{ "url": "https://dantelabs.com/fr/genes/brip1", "gene": { "slug": "brip1", "symbol": "BRIP1", "name": "BRCA1 interacting DNA helicase 1", "hgnc": "HGNC:20473", "summary": null, "location": "17q23.2", "locusType": "gene with protein product", "aliases": [ "OF", "BACH1", "FANCJ" ], "previousSymbols": [], "ensemblId": "ENSG00000136492", "entrezId": 83990, "omim": [ "605882" ], "uniprot": [ "Q9BX63" ], "model": { "build": "GRCh38", "release": "v1.5", "chrom": "17", "start": 61679139, "end": 61863528, "strand": "-", "ensemblTranscript": "ENST00000259008.7", "refseqTranscript": "NM_032043.3", "ensemblProtein": "ENSP00000259008.2", "refseqProtein": "NP_114432.2", "exons": [ { "start": 61679139, "end": 61684140 }, { "start": 61685836, "end": 61686165 }, { "start": 61693430, "end": 61693512 }, { "start": 61715951, "end": 61716063 }, { "start": 61743013, "end": 61743134 }, { "start": 61744432, "end": 61744591 }, { "start": 61776401, "end": 61776562 }, { "start": 61780261, "end": 61780401 }, { "start": 61780840, "end": 61781005 }, { "start": 61784270, "end": 61784424 }, { "start": 61793597, "end": 61793729 }, { "start": 61799100, "end": 61799299 }, { "start": 61801253, "end": 61801474 }, { "start": 61808467, "end": 61808757 }, { "start": 61847101, "end": 61847220 }, { "start": 61849129, "end": 61849256 }, { "start": 61857058, "end": 61857231 }, { "start": 61859796, "end": 61859907 }, { "start": 61861447, "end": 61861569 }, { "start": 61863284, "end": 61863528 } ], "cds": { "start": 61683296, "end": 61861539 } }, "grch37": { "build": "GRCh37", "release": "87", "chrom": "17", "start": 59758627, "end": 59940882, "strand": "-" }, "neighbourhood": { "release": "116", "start": 61271334, "end": 62271333, "genes": [ { "symbol": "BCAS3", "ensemblId": "ENSG00000141376", "biotype": "protein_coding", "start": 60677453, "end": 61392838, "strand": "+", "slug": "bcas3" }, { "symbol": "TBX2", "ensemblId": "ENSG00000121068", "biotype": "protein_coding", "start": 61399630, "end": 61409466, "strand": "+", "slug": "tbx2" }, { "symbol": "TBX4", "ensemblId": "ENSG00000121075", "biotype": "protein_coding", "start": 61451906, "end": 61485110, "strand": "+", "slug": "tbx4" }, { "symbol": "NACA2", "ensemblId": "ENSG00000253506", "biotype": "protein_coding", "start": 61590421, "end": 61591219, "strand": "-", "slug": "naca2" }, { "symbol": "INTS2", "ensemblId": "ENSG00000108506", "biotype": "protein_coding", "start": 61865367, "end": 61928016, "strand": "-", "slug": "ints2" }, { "symbol": "MED13", "ensemblId": "ENSG00000108510", "biotype": "protein_coding", "start": 61942546, "end": 62065365, "strand": "-", "slug": "med13" } ], "truncated": false }, "reports": [ { "slug": "dna-repair-disease", "name": "Maladie liée à la réparation de l'ADN", "diseases": [ { "mondoId": "MONDO:0021190", "name": "Maladie liée à la réparation de l'ADN", "genes": 43, "inheritance": "autosomal-recessive", "description": "Une maladie causée par une altération des mécanismes de réparation de l'ADN.", "management": null, "evidence": { "gencc": [ "Ambry Genetics", "ClinGen", "G2P", "Labcorp Genetics (formerly Invitae)", "PanelApp Australia" ], "clingen": "Definitive", "acmgSf": false, "inheritance": [ "autosomal-recessive" ], "actionability": 9 }, "sameAsReport": true, "broad": false } ], "url": "https://dantelabs.com/fr/conditions/dna-repair-disease" }, { "slug": "fanconi-anemia", "name": "Anémie de Fanconi", "diseases": [ { "mondoId": "MONDO:0019391", "name": "Anémie de Fanconi", "genes": 18, "inheritance": "autosomal-recessive", "description": "L'anémie de Fanconi (AF) est une maladie héréditaire de la réparation de l'ADN caractérisée par une pancytopénie progressive avec insuffisance médullaire, des malformations congénitales variables et une prédisposition au développement de tumeurs hématologiques ou solides.", "management": "Greffe de cellules souches hématopoïétiques avec conditionnement à intensité réduite spécifique à l'AF ; androgènes (oxymétholone) comme traitement d'attente ; surveillance oncologique des cancers des voies aérodigestives supérieures et gynécologiques ; thérapie génique dans le cadre d'essais cliniques", "evidence": { "gencc": [ "Ambry Genetics", "ClinGen", "G2P", "Labcorp Genetics (formerly Invitae)", "PanelApp Australia" ], "clingen": "Definitive", "acmgSf": false, "inheritance": [ "autosomal-recessive" ], "actionability": 9 }, "sameAsReport": true, "broad": false } ], "url": "https://dantelabs.com/fr/conditions/fanconi-anemia" }, { "slug": "moderate-penetrance-breast-ovarian-cancer-genes", "name": "Gènes du cancer du sein et de l'ovaire autres que BRCA1/2", "diseases": [ { "mondoId": "MONDO:0016248", "name": "Cancer de l'ovaire familial", "genes": 1, "inheritance": "autosomal-dominant", "description": "Susceptibilité héréditaire au cancer de l'ovaire, y compris celle liée aux variants de BRIP1.", "management": "L'ablation préventive des ovaires et des trompes de Fallope peut être envisagée.", "evidence": { "gencc": [ "ClinGen" ], "clingen": "Definitive", "acmgSf": false, "inheritance": [ "autosomal-dominant" ] }, "sameAsReport": false, "broad": false }, { "mondoId": "MONDO:0016419", "name": "Cancer du sein héréditaire", "genes": 7, "inheritance": "autosomal-dominant", "description": "Prédisposition héréditaire au cancer du sein due à des variants de l'un de plusieurs gènes.", "management": "Un dépistage mammaire plus précoce et plus intensif, y compris par IRM, peut être recommandé selon le gène.", "evidence": { "gencc": [ "Genomics England PanelApp", "Labcorp Genetics (formerly Invitae)" ], "acmgSf": false, "inheritance": [ "autosomal-dominant" ], "actionability": 9 }, "sameAsReport": false, "broad": false } ], "url": "https://dantelabs.com/fr/conditions/moderate-penetrance-breast-ovarian-cancer-genes" } ], "pharmacogenomics": [], "traits": [], "phenotypes": [ { "slug": "abnormal-aortic-morphology", "name": "Abnormal aortic morphology", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/abnormal-aortic-morphology" }, { "slug": "abnormal-aortic-valve-morphology", "name": "Abnormal aortic valve morphology", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/abnormal-aortic-valve-morphology" }, { "slug": "abnormal-cardiac-septum-morphology", "name": "Abnormal cardiac septum morphology", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/abnormal-cardiac-septum-morphology" }, { "slug": "abnormal-carotid-artery-morphology", "name": "Abnormal carotid artery morphology", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/abnormal-carotid-artery-morphology" }, { "slug": "tracheoesophageal-fistula", "name": "Abnormal connection between trachea and esophagus", "systems": [ "abnormality-of-the-digestive-system", "abnormality-of-the-respiratory-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/tracheoesophageal-fistula" }, { "slug": "abnormal-fallopian-tube-morphology", "name": "Abnormal fallopian tube morphology", "systems": [ "abnormality-of-the-genitourinary-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/abnormal-fallopian-tube-morphology" }, { "slug": "abnormal-foot-morphology", "name": "Abnormal feet structure", "systems": [ "abnormality-of-limbs" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/abnormal-foot-morphology" }, { "slug": "abnormal-localization-of-kidney", "name": "Abnormal localisation of kidneys", "systems": [ "abnormality-of-the-genitourinary-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/abnormal-localization-of-kidney" }, { "slug": "abnormal-morphology-of-ulna", "name": "Abnormal morphology of ulna", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/abnormal-morphology-of-ulna" }, { "slug": "abnormal-preputium-morphology", "name": "Abnormal preputium morphology", "systems": [ "abnormality-of-the-genitourinary-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/abnormal-preputium-morphology" }, { "slug": "abnormal-nervous-system-morphology", "name": "Abnormal shape of nervous system", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/abnormal-nervous-system-morphology" }, { "slug": "abnormal-skin-pigmentation", "name": "Abnormal skin pigmentation", "systems": [ "abnormality-of-the-integument" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/abnormal-skin-pigmentation" }, { "slug": "neoplasm", "name": "Abnormal tissue mass", "systems": [], "frequency": "frequent", "url": "https://dantelabs.com/traits/neoplasm" }, { "slug": "abnormality-of-blood-and-blood-forming-tissues", "name": "Abnormality of blood and blood-forming tissues", "systems": [], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/abnormality-of-blood-and-blood-forming-tissues" }, { "slug": "abnormality-of-chromosome-stability", "name": "Abnormality of chromosome stability", "systems": [ "abnormal-cellular-phenotype", "abnormality-of-metabolism-homeostasis" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/abnormality-of-chromosome-stability" }, { "slug": "abnormality-of-the-eye", "name": "Abnormality of the eye", "systems": [], "frequency": "occasional", "url": "https://dantelabs.com/traits/abnormality-of-the-eye" }, { "slug": "abnormal-eyelid-morphology", "name": "Abnormality of the eyelid", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/abnormal-eyelid-morphology" }, { "slug": "abnormality-of-the-hypothalamus-pituitary-axis", "name": "Abnormality of the hypothalamus-pituitary axis", "systems": [ "abnormality-of-the-endocrine-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/abnormality-of-the-hypothalamus-pituitary-axis" }, { "slug": "abnormality-of-the-liver", "name": "Abnormality of the liver", "systems": [ "abnormality-of-the-digestive-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/abnormality-of-the-liver" }, { "slug": "abnormal-testis-morphology", "name": "Abnormality of the testis", "systems": [ "abnormality-of-the-genitourinary-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/abnormal-testis-morphology" }, { "slug": "abnormal-femur-morphology", "name": "Abnormality of the thighbone", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/abnormal-femur-morphology" }, { "slug": "abnormal-thumb-morphology", "name": "Abnormality of the thumb", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/abnormal-thumb-morphology" }, { "slug": "abnormality-of-the-upper-limb", "name": "Abnormality of the upper limb", "systems": [ "abnormality-of-limbs" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/abnormality-of-the-upper-limb" }, { "slug": "abnormality-of-the-uterus", "name": "Abnormality of the uterus", "systems": [ "abnormality-of-the-genitourinary-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/abnormality-of-the-uterus" }, { "slug": "abnormality-of-vision", "name": "Abnormality of vision", "systems": [ "abnormality-of-the-eye" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/abnormality-of-vision" }, { "slug": "abnormal-pinna-morphology", "name": "Abnormally shaped ears", "systems": [ "abnormality-of-the-ear" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/abnormal-pinna-morphology" }, { "slug": "abnormal-renal-morphology", "name": "Abnormally shaped kidney", "systems": [ "abnormality-of-the-genitourinary-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/abnormal-renal-morphology" }, { "slug": "microphthalmia", "name": "Abnormally small eyeball", "systems": [ "abnormality-of-the-eye" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/microphthalmia" }, { "slug": "microcephaly", "name": "Abnormally small head", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-musculoskeletal-system", "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/microcephaly" }, { "slug": "anal-atresia", "name": "Absent anus", "systems": [ "abnormality-of-the-digestive-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/anal-atresia" }, { "slug": "azoospermia", "name": "Absent sperm in semen", "systems": [ "abnormality-of-the-genitourinary-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/azoospermia" }, { "slug": "absent-testis", "name": "Absent testes", "systems": [ "abnormality-of-the-genitourinary-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/absent-testis" }, { "slug": "aplasia-hypoplasia-of-fingers", "name": "Absent/small fingers", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/aplasia-hypoplasia-of-fingers" }, { "slug": "aplasia-hypoplasia-of-the-iris", "name": "Absent/small iris", "systems": [ "abnormality-of-the-eye" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/aplasia-hypoplasia-of-the-iris" }, { "slug": "renal-hypoplasia-aplasia", "name": "Absent/small kidney", "systems": [ "abnormality-of-the-genitourinary-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/renal-hypoplasia-aplasia" }, { "slug": "almond-shaped-palpebral-fissure", "name": "Almond shaped eyes", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/almond-shaped-palpebral-fissure" }, { "slug": "atrial-septal-defect", "name": "An opening in the wall separating the top two chambers of the heart", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/atrial-septal-defect" }, { "slug": "aplasia-hypoplasia-of-the-radius", "name": "Aplasia/Hypoplasia of the radius", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/aplasia-hypoplasia-of-the-radius" }, { "slug": "aplasia-hypoplasia-of-the-uvula", "name": "Aplasia/Hypoplasia of the uvula", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/aplasia-hypoplasia-of-the-uvula" }, { "slug": "arteriovenous-malformation", "name": "Arteriovenous malformation", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/arteriovenous-malformation" }, { "slug": "astigmatism", "name": "Astigmatism", "systems": [ "abnormality-of-the-eye" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/astigmatism" }, { "slug": "choanal-atresia", "name": "Blockage of the rear opening of the nasal cavity", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/choanal-atresia" }, { "slug": "bone-marrow-hypocellularity", "name": "Bone marrow failure", "systems": [ "abnormality-of-blood-and-blood-forming-tissues" ], "url": "https://dantelabs.com/traits/bone-marrow-hypocellularity" }, { "slug": "breast-carcinoma", "name": "Breast cancer", "systems": [ "abnormality-of-the-breast", "neoplasm" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/breast-carcinoma" }, { "slug": "proptosis", "name": "Bulging eye", "systems": [ "abnormality-of-the-eye" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/proptosis" }, { "slug": "melanoma", "name": "Cancer of skin pigment cells", "systems": [ "neoplasm" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/melanoma" }, { "slug": "neoplasm-of-the-pancreas", "name": "Cancer of the pancreas", "systems": [ "abnormality-of-the-digestive-system", "neoplasm" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/neoplasm-of-the-pancreas" }, { "slug": "chromosomal-breakage-induced-by-crosslinking-agents", "name": "Chromosomal breakage induced by crosslinking agents", "systems": [ "abnormal-cellular-phenotype", "abnormality-of-metabolism-homeostasis" ], "url": "https://dantelabs.com/traits/chromosomal-breakage-induced-by-crosslinking-agents" }, { "slug": "cleft-palate", "name": "Cleft palate", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/cleft-palate" }, { "slug": "cataract", "name": "Clouding of the lens of the eye", "systems": [ "abnormality-of-the-eye" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/cataract" }, { "slug": "clubbing-of-toes", "name": "Clubbed toes", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/clubbing-of-toes" }, { "slug": "cranial-nerve-paralysis", "name": "Cranial nerve paralysis", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/cranial-nerve-paralysis" }, { "slug": "strabismus", "name": "Cross-eyed", "systems": [ "abnormality-of-the-eye" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/strabismus" }, { "slug": "clinodactyly-of-the-5th-finger", "name": "Curvature of little finger", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/clinodactyly-of-the-5th-finger" }, { "slug": "hypogonadism", "name": "Decreased activity of gonads", "systems": [ "abnormality-of-the-endocrine-system", "abnormality-of-the-genitourinary-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/hypogonadism" }, { "slug": "decreased-total-leukocyte-count", "name": "Decreased blood leukocyte number", "systems": [ "abnormality-of-blood-and-blood-forming-tissues", "abnormality-of-the-immune-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/decreased-total-leukocyte-count" }, { "slug": "decreased-fertility-in-males", "name": "Decreased fertility in males", "systems": [ "abnormality-of-the-genitourinary-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/decreased-fertility-in-males" }, { "slug": "ptosis", "name": "Drooping upper eyelid", "systems": [ "abnormality-of-the-eye" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/ptosis" }, { "slug": "pes-planus", "name": "Dropped arches", "systems": [ "abnormality-of-limbs" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/pes-planus" }, { "slug": "duodenal-stenosis", "name": "Duodenal stenosis", "systems": [ "abnormality-of-the-digestive-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/duodenal-stenosis" }, { "slug": "hypertrophic-cardiomyopathy", "name": "Enlarged and thickened heart muscle", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/hypertrophic-cardiomyopathy" }, { "slug": "aganglionic-megacolon", "name": "Enlarged colon lacking nerve cells", "systems": [ "abnormality-of-the-digestive-system", "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/aganglionic-megacolon" }, { "slug": "epicanthus", "name": "Eye folds", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/epicanthus" }, { "slug": "facial-asymmetry", "name": "Facial asymmetry", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/facial-asymmetry" }, { "slug": "finger-syndactyly", "name": "Finger syndactyly", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/finger-syndactyly" }, { "slug": "triphalangeal-thumb", "name": "Finger-like thumb", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/triphalangeal-thumb" }, { "slug": "recurrent-urinary-tract-infections", "name": "Frequent urinary tract infections", "systems": [ "abnormality-of-the-genitourinary-system", "abnormality-of-the-immune-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/recurrent-urinary-tract-infections" }, { "slug": "frontal-bossing", "name": "Frontal bossing", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/frontal-bossing" }, { "slug": "toe-syndactyly", "name": "Fused toes", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/toe-syndactyly" }, { "slug": "global-developmental-delay", "name": "Global developmental delay", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/global-developmental-delay" }, { "slug": "growth-delay", "name": "Growth delay", "systems": [ "growth-abnormality" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/growth-delay" }, { "slug": "postnatal-growth-retardation", "name": "Growth delay as children", "systems": [ "growth-abnormality" ], "url": "https://dantelabs.com/traits/postnatal-growth-retardation" }, { "slug": "hearing-abnormality", "name": "Hearing abnormality", "systems": [ "abnormality-of-the-ear" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/hearing-abnormality" }, { "slug": "hearing-impairment", "name": "Hearing impairment", "systems": [ "abnormality-of-the-ear" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/hearing-impairment" }, { "slug": "bicornuate-uterus", "name": "Heart shaped uterus", "systems": [ "abnormality-of-the-genitourinary-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/bicornuate-uterus" }, { "slug": "high-palate", "name": "High palate", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/high-palate" }, { "slug": "hip-dislocation", "name": "Hip dislocation", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/hip-dislocation" }, { "slug": "hydroureter", "name": "Hydroureter", "systems": [ "abnormality-of-the-genitourinary-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/hydroureter" }, { "slug": "hypospadias", "name": "Hypospadias", "systems": [ "abnormality-of-the-genitourinary-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/hypospadias" }, { "slug": "hyperreflexia", "name": "Increased reflexes", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/hyperreflexia" }, { "slug": "intellectual-disability", "name": "Intellectual disability", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/intellectual-disability" }, { "slug": "nystagmus", "name": "Involuntary, rapid, rhythmic eye movements", "systems": [ "abnormality-of-the-eye" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/nystagmus" }, { "slug": "irregular-hyperpigmentation", "name": "Irregular hyperpigmentation", "systems": [ "abnormality-of-the-integument" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/irregular-hyperpigmentation" }, { "slug": "micrognathia", "name": "Little lower jaw", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/micrognathia" }, { "slug": "dolichocephaly", "name": "Long, narrow head", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/dolichocephaly" }, { "slug": "oligohydramnios", "name": "Low levels of amniotic fluid", "systems": [ "abnormality-of-prenatal-development-or-birth" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/oligohydramnios" }, { "slug": "anemia", "name": "Low number of red blood cells or hemoglobin", "systems": [ "abnormality-of-blood-and-blood-forming-tissues" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/anemia" }, { "slug": "thrombocytopenia", "name": "Low platelet count", "systems": [ "abnormality-of-blood-and-blood-forming-tissues" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/thrombocytopenia" }, { "slug": "reduced-bone-mineral-density", "name": "Low solidness and mass of the bones", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/reduced-bone-mineral-density" }, { "slug": "meckel-diverticulum", "name": "Meckel diverticulum", "systems": [ "abnormality-of-the-digestive-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/meckel-diverticulum" }, { "slug": "multiple-cafe-au-lait-spots", "name": "Multiple birthmarks", "systems": [ "abnormality-of-the-integument" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/multiple-cafe-au-lait-spots" }, { "slug": "myelodysplasia", "name": "Myelodysplasia", "systems": [ "abnormality-of-blood-and-blood-forming-tissues", "neoplasm" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/myelodysplasia" }, { "slug": "ovarian-neoplasm", "name": "Ovarian cancer", "systems": [ "abnormality-of-the-genitourinary-system", "neoplasm" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/ovarian-neoplasm" }, { "slug": "hypopigmented-skin-patches", "name": "Patchy loss of skin color", "systems": [ "abnormality-of-the-integument" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/hypopigmented-skin-patches" }, { "slug": "patent-ductus-arteriosus", "name": "Patent ductus arteriosus", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/patent-ductus-arteriosus" }, { "slug": "intrauterine-growth-retardation", "name": "Prenatal growth deficiency", "systems": [ "growth-abnormality" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/intrauterine-growth-retardation" }, { "slug": "primary-peritoneal-carcinoma", "name": "Primary peritoneal carcinoma", "systems": [ "abnormality-of-the-digestive-system", "neoplasm" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/primary-peritoneal-carcinoma" }, { "slug": "prostate-cancer", "name": "Prostate cancer", "systems": [ "abnormality-of-the-genitourinary-system", "neoplasm" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/prostate-cancer" }, { "slug": "pyridoxine-responsive-sideroblastic-anemia", "name": "Pyridoxine-responsive sideroblastic anemia", "systems": [ "abnormality-of-blood-and-blood-forming-tissues" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/pyridoxine-responsive-sideroblastic-anemia" }, { "slug": "renal-insufficiency", "name": "Renal failure", "systems": [ "abnormality-of-the-genitourinary-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/renal-insufficiency" }, { "slug": "scoliosis", "name": "Scoliosis", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/scoliosis" }, { "slug": "short-palpebral-fissure", "name": "Short opening between the eyelids", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/short-palpebral-fissure" }, { "slug": "short-stature", "name": "Short stature", "systems": [ "growth-abnormality" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/short-stature" }, { "slug": "short-thumb", "name": "Short thumb", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/short-thumb" }, { "slug": "sloping-forehead", "name": "Sloping forehead", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/sloping-forehead" }, { "slug": "spina-bifida", "name": "Split spine", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/spina-bifida" }, { "slug": "tetralogy-of-fallot", "name": "Tetralogy of Fallot", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/tetralogy-of-fallot" }, { "slug": "hydrocephalus", "name": "Too much cerebrospinal fluid in the brain", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/hydrocephalus" }, { "slug": "umbilical-hernia", "name": "Umbilical hernia", "systems": [ "abnormality-of-the-digestive-system", "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/umbilical-hernia" }, { "slug": "hypoplasia-of-the-ulna", "name": "Underdeveloped inner large forearm bone", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/hypoplasia-of-the-ulna" }, { "slug": "cryptorchidism", "name": "Undescended testes", "systems": [ "abnormality-of-the-genitourinary-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/cryptorchidism" }, { "slug": "upslanted-palpebral-fissure", "name": "Upward slanting of the opening between the eyelids", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/upslanted-palpebral-fissure" }, { "slug": "abnormality-of-the-urinary-system", "name": "Urinary tract abnormalities", "systems": [ "abnormality-of-the-genitourinary-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/abnormality-of-the-urinary-system" }, { "slug": "ventriculomegaly", "name": "Ventriculomegaly", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/ventriculomegaly" }, { "slug": "visual-impairment", "name": "Visual impairment", "systems": [ "abnormality-of-the-eye" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/visual-impairment" }, { "slug": "weight-loss", "name": "Weight loss", "systems": [ "growth-abnormality" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/weight-loss" }, { "slug": "hypertelorism", "name": "Wide-set eyes", "systems": [ "abnormality-of-the-eye" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/hypertelorism" } ], "related": [ { "slug": "palb2", "symbol": "PALB2", "name": "partner and localizer of BRCA2", "shared": 3, "url": "https://dantelabs.com/fr/genes/palb2" }, { "slug": "brca1", "symbol": "BRCA1", "name": "BRCA1 DNA repair associated", "shared": 2, "url": "https://dantelabs.com/fr/genes/brca1" }, { "slug": "brca2", "symbol": "BRCA2", "name": "BRCA2 DNA repair associated", "shared": 2, "url": "https://dantelabs.com/fr/genes/brca2" }, { "slug": "ercc4", "symbol": "ERCC4", "name": "ERCC excision repair 4, endonuclease catalytic subunit", "shared": 2, "url": "https://dantelabs.com/fr/genes/ercc4" }, { "slug": "fanca", "symbol": "FANCA", "name": "FA complementation group A", "shared": 2, "url": "https://dantelabs.com/fr/genes/fanca" }, { "slug": "fancb", "symbol": "FANCB", "name": "FA complementation group B", "shared": 2, "url": "https://dantelabs.com/fr/genes/fancb" }, { "slug": "fancc", "symbol": "FANCC", "name": "FA complementation group C", "shared": 2, "url": "https://dantelabs.com/fr/genes/fancc" }, { "slug": "fancd2", "symbol": "FANCD2", "name": "FA complementation group D2", "shared": 2, "url": "https://dantelabs.com/fr/genes/fancd2" }, { "slug": "fance", "symbol": "FANCE", "name": "FA complementation group E", "shared": 2, "url": "https://dantelabs.com/fr/genes/fance" }, { "slug": "fancf", "symbol": "FANCF", "name": "FA complementation group F", "shared": 2, "url": "https://dantelabs.com/fr/genes/fancf" }, { "slug": "fancg", "symbol": "FANCG", "name": "FA complementation group G", "shared": 2, "url": "https://dantelabs.com/fr/genes/fancg" }, { "slug": "fanci", "symbol": "FANCI", "name": "FA complementation group I", "shared": 2, "url": "https://dantelabs.com/fr/genes/fanci" } ], "sources": { "bundleId": "2026.10.17-8666dff2", "panel": "2026-10-17", "acmgSf": "SF v3.2" }, "locusKind": "proteinCoding" }, "variants": { "total": 317, "url": "https://dantelabs.com/genes/brip1/variants", "items": [ { "slug": "a27cfs42", "name": "A27Cfs*42", "commonName": null, "symbol": "BRIP1", "classification": "pathogenic", "stars": 2, "hgvsC": "c.78dup", "position": 61861461, "grch37Position": 59938822, "part": { "kind": "exon", "number": 2 }, "url": "https://dantelabs.com/genes/brip1/variants/a27cfs42" }, { "slug": "a349p", "name": "A349P", "commonName": null, "symbol": "BRIP1", "classification": "likely-pathogenic", "stars": 2, "hgvsC": "c.1045G>C", "position": 61801348, "grch37Position": 59878709, "part": { "kind": "exon", "number": 8 }, "url": "https://dantelabs.com/genes/brip1/variants/a349p" }, { "slug": "a402sfs19", "name": "A402Sfs*19", "commonName": null, "symbol": "BRIP1", "classification": "pathogenic", "stars": 2, "hgvsC": "c.1203_1204del", "position": 61799235, "grch37Position": 59876596, "part": { "kind": "exon", "number": 9 }, "url": "https://dantelabs.com/genes/brip1/variants/a402sfs19" }, { "slug": "a402vfs21", "name": "A402Vfs*21", "commonName": null, "symbol": "BRIP1", "classification": "pathogenic", "stars": 2, "hgvsC": "c.1201_1204dup", "position": 61799235, "grch37Position": 59876596, "part": { "kind": "exon", "number": 9 }, "url": "https://dantelabs.com/genes/brip1/variants/a402vfs21" }, { "slug": "a551kfs41", "name": "A551Kfs*41", "commonName": null, "symbol": "BRIP1", "classification": "pathogenic", "stars": 2, "hgvsC": "c.1645_1649dup", "position": 61780984, "grch37Position": 59858345, "part": { "kind": "exon", "number": 12 }, "url": "https://dantelabs.com/genes/brip1/variants/a551kfs41" }, { "slug": "a759sfs6", "name": "A759Sfs*6", "commonName": null, "symbol": "BRIP1", "classification": "pathogenic", "stars": 2, "hgvsC": "c.2273dup", "position": 61743118, "grch37Position": 59820479, "part": { "kind": "exon", "number": 16 }, "url": "https://dantelabs.com/genes/brip1/variants/a759sfs6" }, { "slug": "c-66c-a", "name": "c.66C>A", "commonName": null, "symbol": "BRIP1", "classification": "pathogenic", "stars": 2, "hgvsC": null, "position": 61861474, "grch37Position": 59938835, "part": { "kind": "exon", "number": 2 }, "url": "https://dantelabs.com/genes/brip1/variants/c-66c-a" }, { "slug": "c-73to93plus14del", "name": "c.73_93+14del", "commonName": null, "symbol": "BRIP1", "classification": "likely-pathogenic", "stars": 2, "hgvsC": null, "position": 61861432, "grch37Position": 59938793, "part": { "kind": "intron", "number": 2 }, "url": "https://dantelabs.com/genes/brip1/variants/c-73to93plus14del" }, { "slug": "c-93plus1g-a", "name": "c.93+1G>A", "commonName": null, "symbol": "BRIP1", "classification": "likely-pathogenic", "stars": 2, "hgvsC": null, "position": 61861446, "grch37Position": 59938807, "part": { "kind": "intron", "number": 2 }, "url": "https://dantelabs.com/genes/brip1/variants/c-93plus1g-a" }, { "slug": "c-93plus1g-c", "name": "c.93+1G>C", "commonName": null, "symbol": "BRIP1", "classification": "likely-pathogenic", "stars": 2, "hgvsC": null, "position": 61861446, "grch37Position": 59938807, "part": { "kind": "intron", "number": 2 }, "url": "https://dantelabs.com/genes/brip1/variants/c-93plus1g-c" }, { "slug": "c-93plus1g-t", "name": "c.93+1G>T", "commonName": null, "symbol": "BRIP1", "classification": "pathogenic-likely-pathogenic", "stars": 2, "hgvsC": null, "position": 61861446, "grch37Position": 59938807, "part": { "kind": "intron", "number": 2 }, "url": "https://dantelabs.com/genes/brip1/variants/c-93plus1g-t" }, { "slug": "c-93plus2del", "name": "c.93+2del", "commonName": null, "symbol": "BRIP1", "classification": "pathogenic-likely-pathogenic", "stars": 2, "hgvsC": null, "position": 61861444, "grch37Position": 59938805, "part": { "kind": "intron", "number": 2 }, "url": "https://dantelabs.com/genes/brip1/variants/c-93plus2del" }, { "slug": "c-93plus2t-c", "name": "c.93+2T>C", "commonName": null, "symbol": "BRIP1", "classification": "likely-pathogenic", "stars": 2, "hgvsC": null, "position": 61861445, "grch37Position": 59938806, "part": { "kind": "intron", "number": 2 }, "url": "https://dantelabs.com/genes/brip1/variants/c-93plus2t-c" }, { "slug": "c-94-1g-a", "name": "c.94-1G>A", "commonName": null, "symbol": "BRIP1", "classification": "likely-pathogenic", "stars": 2, "hgvsC": null, "position": 61859908, "grch37Position": 59937269, "part": { "kind": "intron", "number": 2 }, "url": "https://dantelabs.com/genes/brip1/variants/c-94-1g-a" }, { "slug": "c-189g-a", "name": "c.189G>A", "commonName": null, "symbol": "BRIP1", "classification": "pathogenic", "stars": 2, "hgvsC": null, "position": 61859812, "grch37Position": 59937173, "part": { "kind": "exon", "number": 3 }, "url": "https://dantelabs.com/genes/brip1/variants/c-189g-a" }, { "slug": "c-204to205plus1delinsagt", "name": "c.204_205+1delinsAGT", "commonName": null, "symbol": "BRIP1", "classification": "likely-pathogenic", "stars": 2, "hgvsC": null, "position": 61859795, "grch37Position": 59937156, "part": { "kind": "intron", "number": 3 }, "url": "https://dantelabs.com/genes/brip1/variants/c-204to205plus1delinsagt" }, { "slug": "c-205plus1del", "name": "c.205+1del", "commonName": null, "symbol": "BRIP1", "classification": "pathogenic-likely-pathogenic", "stars": 2, "hgvsC": null, "position": 61859794, "grch37Position": 59937155, "part": { "kind": "intron", "number": 3 }, "url": "https://dantelabs.com/genes/brip1/variants/c-205plus1del" }, { "slug": "c-205plus5g-t", "name": "c.205+5G>T", "commonName": null, "symbol": "BRIP1", "classification": "likely-pathogenic", "stars": 2, "hgvsC": null, "position": 61859791, "grch37Position": 59937152, "part": { "kind": "intron", "number": 3 }, "url": "https://dantelabs.com/genes/brip1/variants/c-205plus5g-t" }, { "slug": "c-440del", "name": "c.440del", "commonName": null, "symbol": "BRIP1", "classification": "pathogenic", "stars": 2, "hgvsC": null, "position": 61849195, "grch37Position": 59926556, "part": { "kind": "exon", "number": 5 }, "url": "https://dantelabs.com/genes/brip1/variants/c-440del" }, { "slug": "c-441to445delinsa", "name": "c.441_445delinsA", "commonName": null, "symbol": "BRIP1", "classification": "pathogenic-likely-pathogenic", "stars": 2, "hgvsC": null, "position": 61849191, "grch37Position": 59926552, "part": { "kind": "exon", "number": 5 }, "url": "https://dantelabs.com/genes/brip1/variants/c-441to445delinsa" }, { "slug": "c-474del", "name": "c.474del", "commonName": null, "symbol": "BRIP1", "classification": "pathogenic", "stars": 2, "hgvsC": null, "position": 61849161, "grch37Position": 59926522, "part": { "kind": "exon", "number": 5 }, "url": "https://dantelabs.com/genes/brip1/variants/c-474del" }, { "slug": "c-507plus1g-t", "name": "c.507+1G>T", "commonName": null, "symbol": "BRIP1", "classification": "pathogenic-likely-pathogenic", "stars": 2, "hgvsC": null, "position": 61849128, "grch37Position": 59926489, "part": { "kind": "intron", "number": 5 }, "url": "https://dantelabs.com/genes/brip1/variants/c-507plus1g-t" }, { "slug": "c-507g-a", "name": "c.507G>A", "commonName": null, "symbol": "BRIP1", "classification": "likely-pathogenic", "stars": 2, "hgvsC": null, "position": 61849129, "grch37Position": 59926490, "part": { "kind": "exon", "number": 5 }, "url": "https://dantelabs.com/genes/brip1/variants/c-507g-a" }, { "slug": "c-507g-c", "name": "c.507G>C", "commonName": null, "symbol": "BRIP1", "classification": "pathogenic-likely-pathogenic", "stars": 2, "hgvsC": null, "position": 61849129, "grch37Position": 59926490, "part": { "kind": "exon", "number": 5 }, "url": "https://dantelabs.com/genes/brip1/variants/c-507g-c" }, { "slug": "c-508-1g-c", "name": "c.508-1G>C", "commonName": null, "symbol": "BRIP1", "classification": "pathogenic", "stars": 2, "hgvsC": null, "position": 61847221, "grch37Position": 59924582, "part": { "kind": "intron", "number": 5 }, "url": "https://dantelabs.com/genes/brip1/variants/c-508-1g-c" }, { "slug": "c-508-1g-t", "name": "c.508-1G>T", "commonName": null, "symbol": "BRIP1", "classification": "pathogenic-likely-pathogenic", "stars": 2, "hgvsC": null, "position": 61847221, "grch37Position": 59924582, "part": { "kind": "intron", "number": 5 }, "url": "https://dantelabs.com/genes/brip1/variants/c-508-1g-t" }, { "slug": "c-508-2a-c", "name": "c.508-2A>C", "commonName": null, "symbol": "BRIP1", "classification": "pathogenic-likely-pathogenic", "stars": 2, "hgvsC": null, "position": 61847222, "grch37Position": 59924583, "part": { "kind": "intron", "number": 5 }, "url": "https://dantelabs.com/genes/brip1/variants/c-508-2a-c" }, { "slug": "c-508-2a-t", "name": "c.508-2A>T", "commonName": null, "symbol": "BRIP1", "classification": "pathogenic-likely-pathogenic", "stars": 2, "hgvsC": null, "position": 61847222, "grch37Position": 59924583, "part": { "kind": "intron", "number": 5 }, "url": "https://dantelabs.com/genes/brip1/variants/c-508-2a-t" }, { "slug": "c-627to627plus1insa", "name": "c.627_627+1insA", "commonName": null, "symbol": "BRIP1", "classification": "pathogenic-likely-pathogenic", "stars": 2, "hgvsC": null, "position": 61847100, "grch37Position": 59924461, "part": { "kind": "intron", "number": 6 }, "url": "https://dantelabs.com/genes/brip1/variants/c-627to627plus1insa" }, { "slug": "c-628-2a-g", "name": "c.628-2A>G", "commonName": null, "symbol": "BRIP1", "classification": "likely-pathogenic", "stars": 2, "hgvsC": null, "position": 61808759, "grch37Position": 59886120, "part": { "kind": "intron", "number": 6 }, "url": "https://dantelabs.com/genes/brip1/variants/c-628-2a-g" }, { "slug": "c-918plus1g-a", "name": "c.918+1G>A", "commonName": null, "symbol": "BRIP1", "classification": "pathogenic-likely-pathogenic", "stars": 2, "hgvsC": null, "position": 61808466, "grch37Position": 59885827, "part": { "kind": "intron", "number": 7 }, "url": "https://dantelabs.com/genes/brip1/variants/c-918plus1g-a" }, { "slug": "c-939t-a", "name": "c.939T>A", "commonName": null, "symbol": "BRIP1", "classification": "pathogenic", "stars": 2, "hgvsC": null, "position": 61801454, "grch37Position": 59878815, "part": { "kind": "exon", "number": 8 }, "url": "https://dantelabs.com/genes/brip1/variants/c-939t-a" }, { "slug": "c-1140plus1g-a", "name": "c.1140+1G>A", "commonName": null, "symbol": "BRIP1", "classification": "likely-pathogenic", "stars": 2, "hgvsC": null, "position": 61801252, "grch37Position": 59878613, "part": { "kind": "intron", "number": 8 }, "url": "https://dantelabs.com/genes/brip1/variants/c-1140plus1g-a" }, { "slug": "c-1141-2a-c", "name": "c.1141-2A>C", "commonName": null, "symbol": "BRIP1", "classification": "likely-pathogenic", "stars": 2, "hgvsC": null, "position": 61799301, "grch37Position": 59876662, "part": { "kind": "intron", "number": 8 }, "url": "https://dantelabs.com/genes/brip1/variants/c-1141-2a-c" }, { "slug": "c-1141-2a-t", "name": "c.1141-2A>T", "commonName": null, "symbol": "BRIP1", "classification": "likely-pathogenic", "stars": 2, "hgvsC": null, "position": 61799301, "grch37Position": 59876662, "part": { "kind": "intron", "number": 8 }, "url": "https://dantelabs.com/genes/brip1/variants/c-1141-2a-t" }, { "slug": "c-1155to1162delinsata", "name": "c.1155_1162delinsATA", "commonName": null, "symbol": "BRIP1", "classification": "pathogenic", "stars": 2, "hgvsC": null, "position": 61799278, "grch37Position": 59876639, "part": { "kind": "exon", "number": 9 }, "url": "https://dantelabs.com/genes/brip1/variants/c-1155to1162delinsata" }, { "slug": "c-1340plus1g-a", "name": "c.1340+1G>A", "commonName": null, "symbol": "BRIP1", "classification": "pathogenic-likely-pathogenic", "stars": 2, "hgvsC": null, "position": 61799099, "grch37Position": 59876460, "part": { "kind": "intron", "number": 9 }, "url": "https://dantelabs.com/genes/brip1/variants/c-1340plus1g-a" }, { "slug": "c-1340plus2to1340plus5del", "name": "c.1340+2_1340+5del", "commonName": null, "symbol": "BRIP1", "classification": "likely-pathogenic", "stars": 2, "hgvsC": null, "position": 61799094, "grch37Position": 59876455, "part": { "kind": "intron", "number": 9 }, "url": "https://dantelabs.com/genes/brip1/variants/c-1340plus2to1340plus5del" }, { "slug": "c-1341-1g-c", "name": "c.1341-1G>C", "commonName": null, "symbol": "BRIP1", "classification": "likely-pathogenic", "stars": 2, "hgvsC": null, "position": 61793730, "grch37Position": 59871091, "part": { "kind": "intron", "number": 9 }, "url": "https://dantelabs.com/genes/brip1/variants/c-1341-1g-c" }, { "slug": "c-1341-2a-c", "name": "c.1341-2A>C", "commonName": null, "symbol": "BRIP1", "classification": "likely-pathogenic", "stars": 2, "hgvsC": null, "position": 61793731, "grch37Position": 59871092, "part": { "kind": "intron", "number": 9 }, "url": "https://dantelabs.com/genes/brip1/variants/c-1341-2a-c" }, { "slug": "c-1473plus1g-a", "name": "c.1473+1G>A", "commonName": null, "symbol": "BRIP1", "classification": "likely-pathogenic", "stars": 2, "hgvsC": null, "position": 61793596, "grch37Position": 59870957, "part": { "kind": "intron", "number": 10 }, "url": "https://dantelabs.com/genes/brip1/variants/c-1473plus1g-a" }, { "slug": "c-1473plus1g-c", "name": "c.1473+1G>C", "commonName": null, "symbol": "BRIP1", "classification": "likely-pathogenic", "stars": 2, "hgvsC": null, "position": 61793596, "grch37Position": 59870957, "part": { "kind": "intron", "number": 10 }, "url": "https://dantelabs.com/genes/brip1/variants/c-1473plus1g-c" }, { "slug": "c-1473plus1g-t", "name": "c.1473+1G>T", "commonName": null, "symbol": "BRIP1", "classification": "likely-pathogenic", "stars": 2, "hgvsC": null, "position": 61793596, "grch37Position": 59870957, "part": { "kind": "intron", "number": 10 }, "url": "https://dantelabs.com/genes/brip1/variants/c-1473plus1g-t" }, { "slug": "c-1474-1g-a", "name": "c.1474-1G>A", "commonName": null, "symbol": "BRIP1", "classification": "pathogenic-likely-pathogenic", "stars": 2, "hgvsC": null, "position": 61784425, "grch37Position": 59861786, "part": { "kind": "intron", "number": 10 }, "url": "https://dantelabs.com/genes/brip1/variants/c-1474-1g-a" }, { "slug": "c-1474-2a-g", "name": "c.1474-2A>G", "commonName": null, "symbol": "BRIP1", "classification": "pathogenic-likely-pathogenic", "stars": 2, "hgvsC": null, "position": 61784426, "grch37Position": 59861787, "part": { "kind": "intron", "number": 10 }, "url": "https://dantelabs.com/genes/brip1/variants/c-1474-2a-g" }, { "slug": "c-1628plus1g-c", "name": "c.1628+1G>C", "commonName": null, "symbol": "BRIP1", "classification": "likely-pathogenic", "stars": 2, "hgvsC": null, "position": 61784269, "grch37Position": 59861630, "part": { "kind": "intron", "number": 11 }, "url": "https://dantelabs.com/genes/brip1/variants/c-1628plus1g-c" }, { "slug": "c-1628plus5g-a", "name": "c.1628+5G>A", "commonName": null, "symbol": "BRIP1", "classification": "pathogenic-likely-pathogenic", "stars": 2, "hgvsC": null, "position": 61784265, "grch37Position": 59861626, "part": { "kind": "intron", "number": 11 }, "url": "https://dantelabs.com/genes/brip1/variants/c-1628plus5g-a" }, { "slug": "c-1629-1g-c", "name": "c.1629-1G>C", "commonName": null, "symbol": "BRIP1", "classification": "likely-pathogenic", "stars": 2, "hgvsC": null, "position": 61781006, "grch37Position": 59858367, "part": { "kind": "intron", "number": 11 }, "url": "https://dantelabs.com/genes/brip1/variants/c-1629-1g-c" }, { "slug": "c-1629-1g-t", "name": "c.1629-1G>T", "commonName": null, "symbol": "BRIP1", "classification": "likely-pathogenic", "stars": 2, "hgvsC": null, "position": 61781006, "grch37Position": 59858367, "part": { "kind": "intron", "number": 11 }, "url": "https://dantelabs.com/genes/brip1/variants/c-1629-1g-t" }, { "slug": "c-1794plus1g-a", "name": "c.1794+1G>A", "commonName": null, "symbol": "BRIP1", "classification": "pathogenic-likely-pathogenic", "stars": 2, "hgvsC": null, "position": 61780839, "grch37Position": 59858200, "part": { "kind": "intron", "number": 12 }, "url": "https://dantelabs.com/genes/brip1/variants/c-1794plus1g-a" }, { "slug": "c-1794plus1g-c", "name": "c.1794+1G>C", "commonName": null, "symbol": "BRIP1", "classification": "likely-pathogenic", "stars": 2, "hgvsC": null, "position": 61780839, "grch37Position": 59858200, "part": { "kind": "intron", "number": 12 }, "url": "https://dantelabs.com/genes/brip1/variants/c-1794plus1g-c" }, { "slug": "c-1936-1g-a", "name": "c.1936-1G>A", "commonName": null, "symbol": "BRIP1", "classification": "likely-pathogenic", "stars": 2, "hgvsC": null, "position": 61776563, "grch37Position": 59853924, "part": { "kind": "intron", "number": 13 }, "url": "https://dantelabs.com/genes/brip1/variants/c-1936-1g-a" }, { "slug": "c-1936-2a-c", "name": "c.1936-2A>C", "commonName": null, "symbol": "BRIP1", "classification": "likely-pathogenic", "stars": 2, "hgvsC": null, "position": 61776564, "grch37Position": 59853925, "part": { "kind": "intron", "number": 13 }, "url": "https://dantelabs.com/genes/brip1/variants/c-1936-2a-c" }, { "slug": "c-1936-2a-g", "name": "c.1936-2A>G", "commonName": null, "symbol": "BRIP1", "classification": "pathogenic-likely-pathogenic", "stars": 2, "hgvsC": null, "position": 61776564, "grch37Position": 59853925, "part": { "kind": "intron", "number": 13 }, "url": "https://dantelabs.com/genes/brip1/variants/c-1936-2a-g" }, { "slug": "c-2097plus2t-a", "name": "c.2097+2T>A", "commonName": null, "symbol": "BRIP1", "classification": "pathogenic-likely-pathogenic", "stars": 2, "hgvsC": null, "position": 61776399, "grch37Position": 59853760, "part": { "kind": "intron", "number": 14 }, "url": "https://dantelabs.com/genes/brip1/variants/c-2097plus2t-a" }, { "slug": "c-2111t-g", "name": "c.2111T>G", "commonName": null, "symbol": "BRIP1", "classification": "pathogenic", "stars": 2, "hgvsC": null, "position": 61744578, "grch37Position": 59821939, "part": { "kind": "exon", "number": 15 }, "url": "https://dantelabs.com/genes/brip1/variants/c-2111t-g" }, { "slug": "c-2124g-a", "name": "c.2124G>A", "commonName": null, "symbol": "BRIP1", "classification": "pathogenic-likely-pathogenic", "stars": 2, "hgvsC": null, "position": 61744565, "grch37Position": 59821926, "part": { "kind": "exon", "number": 15 }, "url": "https://dantelabs.com/genes/brip1/variants/c-2124g-a" }, { "slug": "c-2253to2254del", "name": "c.2253_2254del", "commonName": null, "symbol": "BRIP1", "classification": "pathogenic", "stars": 2, "hgvsC": null, "position": 61744434, "grch37Position": 59821795, "part": { "kind": "exon", "number": 15 }, "url": "https://dantelabs.com/genes/brip1/variants/c-2253to2254del" }, { "slug": "c-2258-1g-a", "name": "c.2258-1G>A", "commonName": null, "symbol": "BRIP1", "classification": "pathogenic-likely-pathogenic", "stars": 2, "hgvsC": null, "position": 61743135, "grch37Position": 59820496, "part": { "kind": "intron", "number": 15 }, "url": "https://dantelabs.com/genes/brip1/variants/c-2258-1g-a" }, { "slug": "c-2258-1g-c", "name": "c.2258-1G>C", "commonName": null, "symbol": "BRIP1", "classification": "pathogenic-likely-pathogenic", "stars": 2, "hgvsC": null, "position": 61743135, "grch37Position": 59820496, "part": { "kind": "intron", "number": 15 }, "url": "https://dantelabs.com/genes/brip1/variants/c-2258-1g-c" }, { "slug": "c-2258-1g-t", "name": "c.2258-1G>T", "commonName": null, "symbol": "BRIP1", "classification": "pathogenic-likely-pathogenic", "stars": 2, "hgvsC": null, "position": 61743135, "grch37Position": 59820496, "part": { "kind": "intron", "number": 15 }, "url": "https://dantelabs.com/genes/brip1/variants/c-2258-1g-t" }, { "slug": "c-2370to2379plus20del", "name": "c.2370_2379+20del", "commonName": null, "symbol": "BRIP1", "classification": "likely-pathogenic", "stars": 2, "hgvsC": null, "position": 61742992, "grch37Position": 59820353, "part": { "kind": "intron", "number": 16 }, "url": "https://dantelabs.com/genes/brip1/variants/c-2370to2379plus20del" }, { "slug": "c-2379plus1g-a", "name": "c.2379+1G>A", "commonName": null, "symbol": "BRIP1", "classification": "likely-pathogenic", "stars": 2, "hgvsC": null, "position": 61743012, "grch37Position": 59820373, "part": { "kind": "intron", "number": 16 }, "url": "https://dantelabs.com/genes/brip1/variants/c-2379plus1g-a" }, { "slug": "c-2379plus1g-t", "name": "c.2379+1G>T", "commonName": null, "symbol": "BRIP1", "classification": "likely-pathogenic", "stars": 2, "hgvsC": null, "position": 61743012, "grch37Position": 59820373, "part": { "kind": "intron", "number": 16 }, "url": "https://dantelabs.com/genes/brip1/variants/c-2379plus1g-t" }, { "slug": "c-2380-1g-a", "name": "c.2380-1G>A", "commonName": null, "symbol": "BRIP1", "classification": "likely-pathogenic", "stars": 2, "hgvsC": null, "position": 61716064, "grch37Position": 59793425, "part": { "kind": "intron", "number": 16 }, "url": "https://dantelabs.com/genes/brip1/variants/c-2380-1g-a" }, { "slug": "c-2380-2a-c", "name": "c.2380-2A>C", "commonName": null, "symbol": "BRIP1", "classification": "likely-pathogenic", "stars": 2, "hgvsC": null, "position": 61716065, "grch37Position": 59793426, "part": { "kind": "intron", "number": 16 }, "url": "https://dantelabs.com/genes/brip1/variants/c-2380-2a-c" }, { "slug": "c-2380-45to2402delinsttgaccatttgaatggt", "name": "c.2380-45_2402delinsTTGACCATTTGAATGGT", "commonName": null, "symbol": "BRIP1", "classification": "likely-pathogenic", "stars": 2, "hgvsC": null, "position": 61716041, "grch37Position": 59793402, "part": { "kind": "exon", "number": 17 }, "url": "https://dantelabs.com/genes/brip1/variants/c-2380-45to2402delinsttgaccatttgaatggt" }, { "slug": "c-2400c-a", "name": "c.2400C>A", "commonName": null, "symbol": "BRIP1", "classification": "pathogenic-likely-pathogenic", "stars": 2, "hgvsC": null, "position": 61716043, "grch37Position": 59793404, "part": { "kind": "exon", "number": 17 }, "url": "https://dantelabs.com/genes/brip1/variants/c-2400c-a" }, { "slug": "c-2448g-a", "name": "c.2448G>A", "commonName": null, "symbol": "BRIP1", "classification": "pathogenic", "stars": 2, "hgvsC": null, "position": 61715995, "grch37Position": 59793356, "part": { "kind": "exon", "number": 17 }, "url": "https://dantelabs.com/genes/brip1/variants/c-2448g-a" }, { "slug": "c-2492to2492plus5del", "name": "c.2492_2492+5del", "commonName": null, "symbol": "BRIP1", "classification": "likely-pathogenic", "stars": 2, "hgvsC": null, "position": 61715945, "grch37Position": 59793306, "part": { "kind": "intron", "number": 17 }, "url": "https://dantelabs.com/genes/brip1/variants/c-2492to2492plus5del" }, { "slug": "c-2492plus1del", "name": "c.2492+1del", "commonName": null, "symbol": "BRIP1", "classification": "likely-pathogenic", "stars": 2, "hgvsC": null, "position": 61715949, "grch37Position": 59793310, "part": { "kind": "intron", "number": 17 }, "url": "https://dantelabs.com/genes/brip1/variants/c-2492plus1del" }, { "slug": "c-2492plus1g-c", "name": "c.2492+1G>C", "commonName": null, "symbol": "BRIP1", "classification": "likely-pathogenic", "stars": 2, "hgvsC": null, "position": 61715950, "grch37Position": 59793311, "part": { "kind": "intron", "number": 17 }, "url": "https://dantelabs.com/genes/brip1/variants/c-2492plus1g-c" }, { "slug": "c-2492plus2to2492plus3inst", "name": "c.2492+2_2492+3insT", "commonName": null, "symbol": "BRIP1", "classification": "pathogenic-likely-pathogenic", "stars": 2, "hgvsC": null, "position": 61715948, "grch37Position": 59793309, "part": { "kind": "intron", "number": 17 }, "url": "https://dantelabs.com/genes/brip1/variants/c-2492plus2to2492plus3inst" }, { "slug": "c-2492plus2t-c", "name": "c.2492+2T>C", "commonName": null, "symbol": "BRIP1", "classification": "likely-pathogenic", "stars": 2, "hgvsC": null, "position": 61715949, "grch37Position": 59793310, "part": { "kind": "intron", "number": 17 }, "url": "https://dantelabs.com/genes/brip1/variants/c-2492plus2t-c" }, { "slug": "c-2493-2a-g", "name": "c.2493-2A>G", "commonName": null, "symbol": "BRIP1", "classification": "likely-pathogenic", "stars": 2, "hgvsC": null, "position": 61693514, "grch37Position": 59770875, "part": { "kind": "intron", "number": 17 }, "url": "https://dantelabs.com/genes/brip1/variants/c-2493-2a-g" }, { "slug": "c-2516g-a", "name": "c.2516G>A", "commonName": null, "symbol": "BRIP1", "classification": "pathogenic", "stars": 2, "hgvsC": null, "position": 61693489, "grch37Position": 59770850, "part": { "kind": "exon", "number": 18 }, "url": "https://dantelabs.com/genes/brip1/variants/c-2516g-a" }, { "slug": "c-2575plus1g-t", "name": "c.2575+1G>T", "commonName": null, "symbol": "BRIP1", "classification": "likely-pathogenic", "stars": 2, "hgvsC": null, "position": 61693429, "grch37Position": 59770790, "part": { "kind": "intron", "number": 18 }, "url": "https://dantelabs.com/genes/brip1/variants/c-2575plus1g-t" }, { "slug": "c-2576-1g-a", "name": "c.2576-1G>A", "commonName": null, "symbol": "BRIP1", "classification": "pathogenic-likely-pathogenic", "stars": 2, "hgvsC": null, "position": 61686166, "grch37Position": 59763527, "part": { "kind": "intron", "number": 18 }, "url": "https://dantelabs.com/genes/brip1/variants/c-2576-1g-a" }, { "slug": "c-2576-1g-t", "name": "c.2576-1G>T", "commonName": null, "symbol": "BRIP1", "classification": "likely-pathogenic", "stars": 2, "hgvsC": null, "position": 61686166, "grch37Position": 59763527, "part": { "kind": "intron", "number": 18 }, "url": "https://dantelabs.com/genes/brip1/variants/c-2576-1g-t" }, { "slug": "c-2576-2a-g", "name": "c.2576-2A>G", "commonName": null, "symbol": "BRIP1", "classification": "likely-pathogenic", "stars": 2, "hgvsC": null, "position": 61686167, "grch37Position": 59763528, "part": { "kind": "intron", "number": 18 }, "url": "https://dantelabs.com/genes/brip1/variants/c-2576-2a-g" }, { "slug": "c-2905plus1g-a", "name": "c.2905+1G>A", "commonName": null, "symbol": "BRIP1", "classification": "likely-pathogenic", "stars": 2, "hgvsC": null, "position": 61685835, "grch37Position": 59763196, "part": { "kind": "intron", "number": 19 }, "url": "https://dantelabs.com/genes/brip1/variants/c-2905plus1g-a" }, { "slug": "c90x", "name": "C90X", "commonName": null, "symbol": "BRIP1", "classification": "pathogenic", "stars": 2, "hgvsC": "c.270C>A", "position": 61857167, "grch37Position": 59934528, "part": { "kind": "exon", "number": 4 }, "url": "https://dantelabs.com/genes/brip1/variants/c90x" }, { "slug": "c693ffs23", "name": "C693Ffs*23", "commonName": null, "symbol": "BRIP1", "classification": "pathogenic-likely-pathogenic", "stars": 2, "hgvsC": "c.2078_2079del", "position": 61776418, "grch37Position": 59853779, "part": { "kind": "exon", "number": 14 }, "url": "https://dantelabs.com/genes/brip1/variants/c693ffs23" }, { "slug": "c761vfs5", "name": "C761Vfs*5", "commonName": null, "symbol": "BRIP1", "classification": "pathogenic", "stars": 2, "hgvsC": "c.2281del", "position": 61743110, "grch37Position": 59820471, "part": { "kind": "exon", "number": 16 }, "url": "https://dantelabs.com/genes/brip1/variants/c761vfs5" }, { "slug": "d460lfs2", "name": "D460Lfs*2", "commonName": null, "symbol": "BRIP1", "classification": "pathogenic", "stars": 2, "hgvsC": "c.1378_1379del", "position": 61793690, "grch37Position": 59871051, "part": { "kind": "exon", "number": 10 }, "url": "https://dantelabs.com/genes/brip1/variants/d460lfs2" }, { "slug": "d566afs24", "name": "D566Afs*24", "commonName": null, "symbol": "BRIP1", "classification": "pathogenic", "stars": 2, "hgvsC": "c.1697del", "position": 61780936, "grch37Position": 59858297, "part": { "kind": "exon", "number": 12 }, "url": "https://dantelabs.com/genes/brip1/variants/d566afs24" }, { "slug": "d736x", "name": "D736X", "commonName": null, "symbol": "BRIP1", "classification": "pathogenic", "stars": 2, "hgvsC": "c.2205dup", "position": 61744483, "grch37Position": 59821844, "part": { "kind": "exon", "number": 15 }, "url": "https://dantelabs.com/genes/brip1/variants/d736x" }, { "slug": "d898tfs14", "name": "D898Tfs*14", "commonName": null, "symbol": "BRIP1", "classification": "pathogenic", "stars": 2, "hgvsC": "c.2692del", "position": 61686048, "grch37Position": 59763409, "part": { "kind": "exon", "number": 19 }, "url": "https://dantelabs.com/genes/brip1/variants/d898tfs14" }, { "slug": "e45x", "name": "E45X", "commonName": null, "symbol": "BRIP1", "classification": "pathogenic", "stars": 2, "hgvsC": "c.133G>T", "position": 61859868, "grch37Position": 59937229, "part": { "kind": "exon", "number": 3 }, "url": "https://dantelabs.com/genes/brip1/variants/e45x" }, { "slug": "e81kfs20", "name": "E81Kfs*20", "commonName": null, "symbol": "BRIP1", "classification": "pathogenic", "stars": 2, "hgvsC": "c.241del", "position": 61857195, "grch37Position": 59934556, "part": { "kind": "exon", "number": 4 }, "url": "https://dantelabs.com/genes/brip1/variants/e81kfs20" }, { "slug": "e130x", "name": "E130X", "commonName": null, "symbol": "BRIP1", "classification": "pathogenic", "stars": 2, "hgvsC": "c.386dup", "position": 61849249, "grch37Position": 59926610, "part": { "kind": "exon", "number": 5 }, "url": "https://dantelabs.com/genes/brip1/variants/e130x" }, { "slug": "e150x", "name": "E150X", "commonName": null, "symbol": "BRIP1", "classification": "pathogenic", "stars": 2, "hgvsC": "c.448G>T", "position": 61849188, "grch37Position": 59926549, "part": { "kind": "exon", "number": 5 }, "url": "https://dantelabs.com/genes/brip1/variants/e150x" }, { "slug": "e412sfs9", "name": "E412Sfs*9", "commonName": null, "symbol": "BRIP1", "classification": "pathogenic", "stars": 2, "hgvsC": "c.1234_1235del", "position": 61799204, "grch37Position": 59876565, "part": { "kind": "exon", "number": 9 }, "url": "https://dantelabs.com/genes/brip1/variants/e412sfs9" }, { "slug": "e454x", "name": "E454X", "commonName": null, "symbol": "BRIP1", "classification": "pathogenic-likely-pathogenic", "stars": 2, "hgvsC": "c.1360G>T", "position": 61793710, "grch37Position": 59871071, "part": { "kind": "exon", "number": 10 }, "url": "https://dantelabs.com/genes/brip1/variants/e454x" }, { "slug": "e458x", "name": "E458X", "commonName": null, "symbol": "BRIP1", "classification": "pathogenic", "stars": 2, "hgvsC": "c.1372G>T", "position": 61793698, "grch37Position": 59871059, "part": { "kind": "exon", "number": 10 }, "url": "https://dantelabs.com/genes/brip1/variants/e458x" }, { "slug": "e472x", "name": "E472X", "commonName": null, "symbol": "BRIP1", "classification": "pathogenic", "stars": 2, "hgvsC": "c.1414G>T", "position": 61793656, "grch37Position": 59871017, "part": { "kind": "exon", "number": 10 }, "url": "https://dantelabs.com/genes/brip1/variants/e472x" }, { "slug": "e501gfs9", "name": "E501Gfs*9", "commonName": null, "symbol": "BRIP1", "classification": "pathogenic", "stars": 2, "hgvsC": "c.1502_1503del", "position": 61784394, "grch37Position": 59861755, "part": { "kind": "exon", "number": 11 }, "url": "https://dantelabs.com/genes/brip1/variants/e501gfs9" }, { "slug": "e501rfs10", "name": "E501Rfs*10", "commonName": null, "symbol": "BRIP1", "classification": "pathogenic", "stars": 2, "hgvsC": "c.1500dup", "position": 61784397, "grch37Position": 59861758, "part": { "kind": "exon", "number": 11 }, "url": "https://dantelabs.com/genes/brip1/variants/e501rfs10" }, { "slug": "e515kfs11", "name": "E515Kfs*11", "commonName": null, "symbol": "BRIP1", "classification": "pathogenic-likely-pathogenic", "stars": 2, "hgvsC": "c.1543del", "position": 61784354, "grch37Position": 59861715, "part": { "kind": "exon", "number": 11 }, "url": "https://dantelabs.com/genes/brip1/variants/e515kfs11" }, { "slug": "e626d", "name": "E626D", "commonName": null, "symbol": "BRIP1", "classification": "pathogenic", "stars": 2, "hgvsC": "c.1878A>T", "position": 61780318, "grch37Position": 59857679, "part": { "kind": "exon", "number": 13 }, "url": "https://dantelabs.com/genes/brip1/variants/e626d" }, { "slug": "e671x", "name": "E671X", "commonName": null, "symbol": "BRIP1", "classification": "pathogenic", "stars": 2, "hgvsC": "c.2010dup", "position": 61776487, "grch37Position": 59853848, "part": { "kind": "exon", "number": 14 }, "url": "https://dantelabs.com/genes/brip1/variants/e671x" }, { "slug": "e675gfs42", "name": "E675Gfs*42", "commonName": null, "symbol": "BRIP1", "classification": "pathogenic", "stars": 2, "hgvsC": "c.2023dup", "position": 61776474, "grch37Position": 59853835, "part": { "kind": "exon", "number": 14 }, "url": "https://dantelabs.com/genes/brip1/variants/e675gfs42" }, { "slug": "e702kfs3", "name": "E702Kfs*3", "commonName": null, "symbol": "BRIP1", "classification": "pathogenic-likely-pathogenic", "stars": 2, "hgvsC": "c.2103del", "position": 61744585, "grch37Position": 59821946, "part": { "kind": "exon", "number": 15 }, "url": "https://dantelabs.com/genes/brip1/variants/e702kfs3" }, { "slug": "e751kfs7", "name": "E751Kfs*7", "commonName": null, "symbol": "BRIP1", "classification": "pathogenic", "stars": 2, "hgvsC": "c.2251_2254del", "position": 61744434, "grch37Position": 59821795, "part": { "kind": "exon", "number": 15 }, "url": "https://dantelabs.com/genes/brip1/variants/e751kfs7" }, { "slug": "e795x", "name": "E795X", "commonName": null, "symbol": "BRIP1", "classification": "pathogenic", "stars": 2, "hgvsC": "c.2383G>T", "position": 61716060, "grch37Position": 59793421, "part": { "kind": "exon", "number": 17 }, "url": "https://dantelabs.com/genes/brip1/variants/e795x" }, { "slug": "e945x", "name": "E945X", "commonName": null, "symbol": "BRIP1", "classification": "pathogenic-likely-pathogenic", "stars": 2, "hgvsC": "c.2833G>T", "position": 61685908, "grch37Position": 59763269, "part": { "kind": "exon", "number": 19 }, "url": "https://dantelabs.com/genes/brip1/variants/e945x" }, { "slug": "f17lfs2", "name": "F17Lfs*2", "commonName": null, "symbol": "BRIP1", "classification": "pathogenic", "stars": 2, "hgvsC": "c.51_55del", "position": 61861484, "grch37Position": 59938845, "part": { "kind": "exon", "number": 2 }, "url": "https://dantelabs.com/genes/brip1/variants/f17lfs2" }, { "slug": "f154sfs17", "name": "F154Sfs*17", "commonName": null, "symbol": "BRIP1", "classification": "pathogenic", "stars": 2, "hgvsC": "c.461_462del", "position": 61849173, "grch37Position": 59926534, "part": { "kind": "exon", "number": 5 }, "url": "https://dantelabs.com/genes/brip1/variants/f154sfs17" }, { "slug": "f292lfs11", "name": "F292Lfs*11", "commonName": null, "symbol": "BRIP1", "classification": "pathogenic", "stars": 2, "hgvsC": "c.876del", "position": 61808508, "grch37Position": 59885869, "part": { "kind": "exon", "number": 7 }, "url": "https://dantelabs.com/genes/brip1/variants/f292lfs11" }, { "slug": "f328lfs8", "name": "F328Lfs*8", "commonName": null, "symbol": "BRIP1", "classification": "pathogenic", "stars": 2, "hgvsC": "c.984_990del", "position": 61801402, "grch37Position": 59878763, "part": { "kind": "exon", "number": 8 }, "url": "https://dantelabs.com/genes/brip1/variants/f328lfs8" }, { "slug": "f538lfs52", "name": "F538Lfs*52", "commonName": null, "symbol": "BRIP1", "classification": "pathogenic", "stars": 2, "hgvsC": "c.1614del", "position": 61784283, "grch37Position": 59861644, "part": { "kind": "exon", "number": 11 }, "url": "https://dantelabs.com/genes/brip1/variants/f538lfs52" }, { "slug": "f771lfs8", "name": "F771Lfs*8", "commonName": null, "symbol": "BRIP1", "classification": "pathogenic", "stars": 2, "hgvsC": "c.2313_2319del", "position": 61743072, "grch37Position": 59820433, "part": { "kind": "exon", "number": 16 }, "url": "https://dantelabs.com/genes/brip1/variants/f771lfs8" }, { "slug": "g35x", "name": "G35X", "commonName": null, "symbol": "BRIP1", "classification": "pathogenic-likely-pathogenic", "stars": 2, "hgvsC": "c.103G>T", "position": 61859898, "grch37Position": 59937259, "part": { "kind": "exon", "number": 3 }, "url": "https://dantelabs.com/genes/brip1/variants/g35x" }, { "slug": "g212afs62", "name": "G212Afs*62", "commonName": null, "symbol": "BRIP1", "classification": "pathogenic", "stars": 2, "hgvsC": "c.633del", "position": 61808751, "grch37Position": 59886112, "part": { "kind": "exon", "number": 7 }, "url": "https://dantelabs.com/genes/brip1/variants/g212afs62" }, { "slug": "g529x", "name": "G529X", "commonName": null, "symbol": "BRIP1", "classification": "pathogenic", "stars": 2, "hgvsC": "c.1585G>T", "position": 61784313, "grch37Position": 59861674, "part": { "kind": "exon", "number": 11 }, "url": "https://dantelabs.com/genes/brip1/variants/g529x" }, { "slug": "g657vfs31", "name": "G657Vfs*31", "commonName": null, "symbol": "BRIP1", "classification": "pathogenic-likely-pathogenic", "stars": 2, "hgvsC": "c.1970del", "position": 61776527, "grch37Position": 59853888, "part": { "kind": "exon", "number": 14 }, "url": "https://dantelabs.com/genes/brip1/variants/g657vfs31" }, { "slug": "g677efs11", "name": "G677Efs*11", "commonName": null, "symbol": "BRIP1", "classification": "pathogenic", "stars": 2, "hgvsC": "c.2030del", "position": 61776467, "grch37Position": 59853828, "part": { "kind": "exon", "number": 14 }, "url": "https://dantelabs.com/genes/brip1/variants/g677efs11" }, { "slug": "g712vfs9", "name": "G712Vfs*9", "commonName": null, "symbol": "BRIP1", "classification": "pathogenic", "stars": 2, "hgvsC": "c.2133del", "position": 61744555, "grch37Position": 59821916, "part": { "kind": "exon", "number": 15 }, "url": "https://dantelabs.com/genes/brip1/variants/g712vfs9" }, { "slug": "h281ifs8", "name": "H281Ifs*8", "commonName": null, "symbol": "BRIP1", "classification": "pathogenic", "stars": 2, "hgvsC": "c.840del", "position": 61808544, "grch37Position": 59885905, "part": { "kind": "exon", "number": 7 }, "url": "https://dantelabs.com/genes/brip1/variants/h281ifs8" }, { "slug": "h715ffs16", "name": "H715Ffs*16", "commonName": null, "symbol": "BRIP1", "classification": "pathogenic-likely-pathogenic", "stars": 2, "hgvsC": "c.2143_2163delinsTTCT", "position": 61744526, "grch37Position": 59821887, "part": { "kind": "exon", "number": 15 }, "url": "https://dantelabs.com/genes/brip1/variants/h715ffs16" }, { "slug": "i10mfs4", "name": "I10Mfs*4", "commonName": null, "symbol": "BRIP1", "classification": "pathogenic", "stars": 2, "hgvsC": "c.30del", "position": 61861509, "grch37Position": 59938870, "part": { "kind": "exon", "number": 2 }, "url": "https://dantelabs.com/genes/brip1/variants/i10mfs4" }, { "slug": "i504nfs7", "name": "I504Nfs*7", "commonName": null, "symbol": "BRIP1", "classification": "pathogenic", "stars": 2, "hgvsC": "c.1510dup", "position": 61784387, "grch37Position": 59861748, "part": { "kind": "exon", "number": 11 }, "url": "https://dantelabs.com/genes/brip1/variants/i504nfs7" }, { "slug": "i504sfs22", "name": "I504Sfs*22", "commonName": null, "symbol": "BRIP1", "classification": "pathogenic", "stars": 2, "hgvsC": "c.1510del", "position": 61784387, "grch37Position": 59861748, "part": { "kind": "exon", "number": 11 }, "url": "https://dantelabs.com/genes/brip1/variants/i504sfs22" }, { "slug": "i746nfs12", "name": "I746Nfs*12", "commonName": null, "symbol": "BRIP1", "classification": "pathogenic", "stars": 2, "hgvsC": "c.2237_2240del", "position": 61744448, "grch37Position": 59821809, "part": { "kind": "exon", "number": 15 }, "url": "https://dantelabs.com/genes/brip1/variants/i746nfs12" }, { "slug": "i983lfs2", "name": "I983Lfs*2", "commonName": null, "symbol": "BRIP1", "classification": "pathogenic", "stars": 2, "hgvsC": "c.2947del", "position": 61684098, "grch37Position": 59761459, "part": { "kind": "exon", "number": 20 }, "url": "https://dantelabs.com/genes/brip1/variants/i983lfs2" }, { "slug": "k70nfs7", "name": "K70Nfs*7", "commonName": null, "symbol": "BRIP1", "classification": "pathogenic-likely-pathogenic", "stars": 2, "hgvsC": "c.210del", "position": 61857226, "grch37Position": 59934587, "part": { "kind": "exon", "number": 4 }, "url": "https://dantelabs.com/genes/brip1/variants/k70nfs7" }, { "slug": "k137vfs4", "name": "K137Vfs*4", "commonName": null, "symbol": "BRIP1", "classification": "pathogenic", "stars": 2, "hgvsC": "c.409_410del", "position": 61849225, "grch37Position": 59926586, "part": { "kind": "exon", "number": 5 }, "url": "https://dantelabs.com/genes/brip1/variants/k137vfs4" }, { "slug": "k159nfs11", "name": "K159Nfs*11", "commonName": null, "symbol": "BRIP1", "classification": "pathogenic", "stars": 2, "hgvsC": "c.477_481del", "position": 61849154, "grch37Position": 59926515, "part": { "kind": "exon", "number": 5 }, "url": "https://dantelabs.com/genes/brip1/variants/k159nfs11" }, { "slug": "k172x", "name": "K172X", "commonName": null, "symbol": "BRIP1", "classification": "pathogenic", "stars": 2, "hgvsC": "c.514A>T", "position": 61847214, "grch37Position": 59924575, "part": { "kind": "exon", "number": 6 }, "url": "https://dantelabs.com/genes/brip1/variants/k172x" }, { "slug": "k222x", "name": "K222X", "commonName": null, "symbol": "BRIP1", "classification": "pathogenic-likely-pathogenic", "stars": 2, "hgvsC": "c.664A>T", "position": 61808721, "grch37Position": 59886082, "part": { "kind": "exon", "number": 7 }, "url": "https://dantelabs.com/genes/brip1/variants/k222x" }, { "slug": "k254rfs19", "name": "K254Rfs*19", "commonName": null, "symbol": "BRIP1", "classification": "pathogenic", "stars": 2, "hgvsC": "c.761_764del", "position": 61808620, "grch37Position": 59885981, "part": { "kind": "exon", "number": 7 }, "url": "https://dantelabs.com/genes/brip1/variants/k254rfs19" }, { "slug": "k254tfs21", "name": "K254Tfs*21", "commonName": null, "symbol": "BRIP1", "classification": "pathogenic", "stars": 2, "hgvsC": "c.759_760dup", "position": 61808624, "grch37Position": 59885985, "part": { "kind": "exon", "number": 7 }, "url": "https://dantelabs.com/genes/brip1/variants/k254tfs21" }, { "slug": "k297nfs22", "name": "K297Nfs*22", "commonName": null, "symbol": "BRIP1", "classification": "pathogenic", "stars": 2, "hgvsC": "c.890_891insT", "position": 61808494, "grch37Position": 59885855, "part": { "kind": "exon", "number": 7 }, "url": "https://dantelabs.com/genes/brip1/variants/k297nfs22" }, { "slug": "k297sfs6", "name": "K297Sfs*6", "commonName": null, "symbol": "BRIP1", "classification": "pathogenic", "stars": 2, "hgvsC": "c.890del", "position": 61808494, "grch37Position": 59885855, "part": { "kind": "exon", "number": 7 }, "url": "https://dantelabs.com/genes/brip1/variants/k297sfs6" }, { "slug": "k386x", "name": "K386X", "commonName": null, "symbol": "BRIP1", "classification": "pathogenic", "stars": 2, "hgvsC": "c.1156A>T", "position": 61799284, "grch37Position": 59876645, "part": { "kind": "exon", "number": 9 }, "url": "https://dantelabs.com/genes/brip1/variants/k386x" }, { "slug": "k528x", "name": "K528X", "commonName": null, "symbol": "BRIP1", "classification": "pathogenic", "stars": 2, "hgvsC": "c.1582A>T", "position": 61784316, "grch37Position": 59861677, "part": { "kind": "exon", "number": 11 }, "url": "https://dantelabs.com/genes/brip1/variants/k528x" }, { "slug": "k567ifs4", "name": "K567Ifs*4", "commonName": null, "symbol": "BRIP1", "classification": "pathogenic", "stars": 2, "hgvsC": "c.1697_1698insTATATCAAATTGATATTTCAACAAC", "position": 61780936, "grch37Position": 59858297, "part": { "kind": "exon", "number": 12 }, "url": "https://dantelabs.com/genes/brip1/variants/k567ifs4" }, { "slug": "k656x", "name": "K656X", "commonName": null, "symbol": "BRIP1", "classification": "pathogenic", "stars": 2, "hgvsC": "c.1966A>T", "position": 61776532, "grch37Position": 59853893, "part": { "kind": "exon", "number": 14 }, "url": "https://dantelabs.com/genes/brip1/variants/k656x" }, { "slug": "k703ifs3", "name": "K703Ifs*3", "commonName": null, "symbol": "BRIP1", "classification": "pathogenic", "stars": 2, "hgvsC": "c.2108delinsTCC", "position": 61744581, "grch37Position": 59821942, "part": { "kind": "exon", "number": 15 }, "url": "https://dantelabs.com/genes/brip1/variants/k703ifs3" }, { "slug": "k703nfs2", "name": "K703Nfs*2", "commonName": null, "symbol": "BRIP1", "classification": "pathogenic", "stars": 2, "hgvsC": "c.2109del", "position": 61744579, "grch37Position": 59821940, "part": { "kind": "exon", "number": 15 }, "url": "https://dantelabs.com/genes/brip1/variants/k703nfs2" }, { "slug": "k705tfs10", "name": "K705Tfs*10", "commonName": null, "symbol": "BRIP1", "classification": "pathogenic-likely-pathogenic", "stars": 2, "hgvsC": "c.2114_2118del", "position": 61744570, "grch37Position": 59821931, "part": { "kind": "exon", "number": 15 }, "url": "https://dantelabs.com/genes/brip1/variants/k705tfs10" }, { "slug": "k752mfs6", "name": "K752Mfs*6", "commonName": null, "symbol": "BRIP1", "classification": "pathogenic", "stars": 2, "hgvsC": "c.2254_2257del", "position": 61744431, "grch37Position": 59821792, "part": { "kind": "intron", "number": 15 }, "url": "https://dantelabs.com/genes/brip1/variants/k752mfs6" }, { "slug": "k752rfs12", "name": "K752Rfs*12", "commonName": null, "symbol": "BRIP1", "classification": "pathogenic", "stars": 2, "hgvsC": "c.2255_2256del", "position": 61744432, "grch37Position": 59821793, "part": { "kind": "exon", "number": 15 }, "url": "https://dantelabs.com/genes/brip1/variants/k752rfs12" }, { "slug": "k897rfs15", "name": "K897Rfs*15", "commonName": null, "symbol": "BRIP1", "classification": "pathogenic", "stars": 2, "hgvsC": "c.2690del", "position": 61686050, "grch37Position": 59763411, "part": { "kind": "exon", "number": 19 }, "url": "https://dantelabs.com/genes/brip1/variants/k897rfs15" }, { "slug": "l33sfs4", "name": "L33Sfs*4", "commonName": null, "symbol": "BRIP1", "classification": "pathogenic", "stars": 2, "hgvsC": "c.96del", "position": 61859904, "grch37Position": 59937265, "part": { "kind": "exon", "number": 3 }, "url": "https://dantelabs.com/genes/brip1/variants/l33sfs4" }, { "slug": "l43ffs26", "name": "L43Ffs*26", "commonName": null, "symbol": "BRIP1", "classification": "pathogenic-likely-pathogenic", "stars": 2, "hgvsC": "c.128dup", "position": 61859872, "grch37Position": 59937233, "part": { "kind": "exon", "number": 3 }, "url": "https://dantelabs.com/genes/brip1/variants/l43ffs26" }, { "slug": "l43wfs11", "name": "L43Wfs*11", "commonName": null, "symbol": "BRIP1", "classification": "pathogenic", "stars": 2, "hgvsC": "c.128_131del", "position": 61859869, "grch37Position": 59937230, "part": { "kind": "exon", "number": 3 }, "url": "https://dantelabs.com/genes/brip1/variants/l43wfs11" }, { "slug": "l54x", "name": "L54X", "commonName": null, "symbol": "BRIP1", "classification": "pathogenic-likely-pathogenic", "stars": 2, "hgvsC": "c.161T>G", "position": 61859840, "grch37Position": 59937201, "part": { "kind": "exon", "number": 3 }, "url": "https://dantelabs.com/genes/brip1/variants/l54x" }, { "slug": "l56ffs5", "name": "L56Ffs*5", "commonName": null, "symbol": "BRIP1", "classification": "pathogenic", "stars": 2, "hgvsC": "c.168_171del", "position": 61859829, "grch37Position": 59937190, "part": { "kind": "exon", "number": 3 }, "url": "https://dantelabs.com/genes/brip1/variants/l56ffs5" }, { "slug": "l61tfs4", "name": "L61Tfs*4", "commonName": null, "symbol": "BRIP1", "classification": "pathogenic-likely-pathogenic", "stars": 2, "hgvsC": "c.180_190del", "position": 61859810, "grch37Position": 59937171, "part": { "kind": "exon", "number": 3 }, "url": "https://dantelabs.com/genes/brip1/variants/l61tfs4" }, { "slug": "l183wfs11", "name": "L183Wfs*11", "commonName": null, "symbol": "BRIP1", "classification": "pathogenic", "stars": 2, "hgvsC": "c.548del", "position": 61847179, "grch37Position": 59924540, "part": { "kind": "exon", "number": 6 }, "url": "https://dantelabs.com/genes/brip1/variants/l183wfs11" }, { "slug": "l301ffs2", "name": "L301Ffs*2", "commonName": null, "symbol": "BRIP1", "classification": "pathogenic-likely-pathogenic", "stars": 2, "hgvsC": "c.903del", "position": 61808481, "grch37Position": 59885842, "part": { "kind": "exon", "number": 7 }, "url": "https://dantelabs.com/genes/brip1/variants/l301ffs2" }, { "slug": "l340pfs9", "name": "L340Pfs*9", "commonName": null, "symbol": "BRIP1", "classification": "pathogenic-likely-pathogenic", "stars": 2, "hgvsC": "c.1018_1019insCT", "position": 61801374, "grch37Position": 59878735, "part": { "kind": "exon", "number": 8 }, "url": "https://dantelabs.com/genes/brip1/variants/l340pfs9" }, { "slug": "l358pfs6", "name": "L358Pfs*6", "commonName": null, "symbol": "BRIP1", "classification": "pathogenic-likely-pathogenic", "stars": 2, "hgvsC": "c.1072dup", "position": 61801320, "grch37Position": 59878681, "part": { "kind": "exon", "number": 8 }, "url": "https://dantelabs.com/genes/brip1/variants/l358pfs6" }, { "slug": "l358tfs11", "name": "L358Tfs*11", "commonName": null, "symbol": "BRIP1", "classification": "pathogenic-likely-pathogenic", "stars": 2, "hgvsC": "c.1072_1087del", "position": 61801305, "grch37Position": 59878666, "part": { "kind": "exon", "number": 8 }, "url": "https://dantelabs.com/genes/brip1/variants/l358tfs11" }, { "slug": "l372ifs2", "name": "L372Ifs*2", "commonName": null, "symbol": "BRIP1", "classification": "pathogenic", "stars": 2, "hgvsC": "c.1114_1115delinsA", "position": 61801278, "grch37Position": 59878639, "part": { "kind": "exon", "number": 8 }, "url": "https://dantelabs.com/genes/brip1/variants/l372ifs2" }, { "slug": "l438yfs12", "name": "L438Yfs*12", "commonName": null, "symbol": "BRIP1", "classification": "pathogenic", "stars": 2, "hgvsC": "c.1312del", "position": 61799127, "grch37Position": 59876488, "part": { "kind": "exon", "number": 9 }, "url": "https://dantelabs.com/genes/brip1/variants/l438yfs12" }, { "slug": "l475ffs34", "name": "L475Ffs*34", "commonName": null, "symbol": "BRIP1", "classification": "pathogenic", "stars": 2, "hgvsC": "c.1425_1429del", "position": 61793640, "grch37Position": 59871001, "part": { "kind": "exon", "number": 10 }, "url": "https://dantelabs.com/genes/brip1/variants/l475ffs34" }, { "slug": "l537ffs53", "name": "L537Ffs*53", "commonName": null, "symbol": "BRIP1", "classification": "pathogenic", "stars": 2, "hgvsC": "c.1608del", "position": 61784289, "grch37Position": 59861650, "part": { "kind": "exon", "number": 11 }, "url": "https://dantelabs.com/genes/brip1/variants/l537ffs53" }, { "slug": "l570cfs20", "name": "L570Cfs*20", "commonName": null, "symbol": "BRIP1", "classification": "pathogenic", "stars": 2, "hgvsC": "c.1707del", "position": 61780926, "grch37Position": 59858287, "part": { "kind": "exon", "number": 12 }, "url": "https://dantelabs.com/genes/brip1/variants/l570cfs20" }, { "slug": "l680ffs9", "name": "L680Ffs*9", "commonName": null, "symbol": "BRIP1", "classification": "pathogenic", "stars": 2, "hgvsC": "c.2038_2039dup", "position": 61776458, "grch37Position": 59853819, "part": { "kind": "exon", "number": 14 }, "url": "https://dantelabs.com/genes/brip1/variants/l680ffs9" }, { "slug": "l704x", "name": "L704X", "commonName": null, "symbol": "BRIP1", "classification": "pathogenic", "stars": 2, "hgvsC": "c.2111T>A", "position": 61744578, "grch37Position": 59821939, "part": { "kind": "exon", "number": 15 }, "url": "https://dantelabs.com/genes/brip1/variants/l704x" }, { "slug": "l713x", "name": "L713X", "commonName": null, "symbol": "BRIP1", "classification": "pathogenic", "stars": 2, "hgvsC": "c.2138T>G", "position": 61744551, "grch37Position": 59821912, "part": { "kind": "exon", "number": 15 }, "url": "https://dantelabs.com/genes/brip1/variants/l713x" }, { "slug": "l842yfs5", "name": "L842Yfs*5", "commonName": null, "symbol": "BRIP1", "classification": "pathogenic", "stars": 2, "hgvsC": "c.2524_2525del", "position": 61693479, "grch37Position": 59770840, "part": { "kind": "exon", "number": 18 }, "url": "https://dantelabs.com/genes/brip1/variants/l842yfs5" }, { "slug": "l881wfs16", "name": "L881Wfs*16", "commonName": null, "symbol": "BRIP1", "classification": "pathogenic", "stars": 2, "hgvsC": "c.2640del", "position": 61686100, "grch37Position": 59763461, "part": { "kind": "exon", "number": 19 }, "url": "https://dantelabs.com/genes/brip1/variants/l881wfs16" }, { "slug": "l914x", "name": "L914X", "commonName": null, "symbol": "BRIP1", "classification": "pathogenic", "stars": 2, "hgvsC": "c.2741del", "position": 61685999, "grch37Position": 59763360, "part": { "kind": "exon", "number": 19 }, "url": "https://dantelabs.com/genes/brip1/variants/l914x" }, { "slug": "l922x", "name": "L922X", "commonName": null, "symbol": "BRIP1", "classification": "pathogenic", "stars": 2, "hgvsC": "c.2765T>G", "position": 61685976, "grch37Position": 59763337, "part": { "kind": "exon", "number": 19 }, "url": "https://dantelabs.com/genes/brip1/variants/l922x" }, { "slug": "m4ifs10", "name": "M4Ifs*10", "commonName": null, "symbol": "BRIP1", "classification": "pathogenic", "stars": 2, "hgvsC": "c.12del", "position": 61861527, "grch37Position": 59938888, "part": { "kind": "exon", "number": 2 }, "url": "https://dantelabs.com/genes/brip1/variants/m4ifs10" }, { "slug": "m532nfs4", "name": "M532Nfs*4", "commonName": null, "symbol": "BRIP1", "classification": "pathogenic", "stars": 2, "hgvsC": "c.1594dup", "position": 61784303, "grch37Position": 59861664, "part": { "kind": "exon", "number": 11 }, "url": "https://dantelabs.com/genes/brip1/variants/m532nfs4" }, { "slug": "n97mfs3", "name": "N97Mfs*3", "commonName": null, "symbol": "BRIP1", "classification": "pathogenic", "stars": 2, "hgvsC": "c.290_293del", "position": 61857143, "grch37Position": 59934504, "part": { "kind": "exon", "number": 4 }, "url": "https://dantelabs.com/genes/brip1/variants/n97mfs3" }, { "slug": "n98x", "name": "N98X", "commonName": null, "symbol": "BRIP1", "classification": "pathogenic-likely-pathogenic", "stars": 2, "hgvsC": "c.292_293del", "position": 61857143, "grch37Position": 59934504, "part": { "kind": "exon", "number": 4 }, "url": "https://dantelabs.com/genes/brip1/variants/n98x" }, { "slug": "n203tfs71", "name": "N203Tfs*71", "commonName": null, "symbol": "BRIP1", "classification": "pathogenic", "stars": 2, "hgvsC": "c.608del", "position": 61847119, "grch37Position": 59924480, "part": { "kind": "exon", "number": 6 }, "url": "https://dantelabs.com/genes/brip1/variants/n203tfs71" }, { "slug": "n306kfs32", "name": "N306Kfs*32", "commonName": null, "symbol": "BRIP1", "classification": "pathogenic", "stars": 2, "hgvsC": "c.918del", "position": 61808466, "grch37Position": 59885827, "part": { "kind": "intron", "number": 7 }, "url": "https://dantelabs.com/genes/brip1/variants/n306kfs32" }, { "slug": "n397x", "name": "N397X", "commonName": null, "symbol": "BRIP1", "classification": "pathogenic-likely-pathogenic", "stars": 2, "hgvsC": "c.1188dup", "position": 61799251, "grch37Position": 59876612, "part": { "kind": "exon", "number": 9 }, "url": "https://dantelabs.com/genes/brip1/variants/n397x" }, { "slug": "n429ifs2", "name": "N429Ifs*2", "commonName": null, "symbol": "BRIP1", "classification": "pathogenic", "stars": 2, "hgvsC": "c.1286del", "position": 61799153, "grch37Position": 59876514, "part": { "kind": "exon", "number": 9 }, "url": "https://dantelabs.com/genes/brip1/variants/n429ifs2" }, { "slug": "n429kfs6", "name": "N429Kfs*6", "commonName": null, "symbol": "BRIP1", "classification": "pathogenic", "stars": 2, "hgvsC": "c.1287_1291del", "position": 61799148, "grch37Position": 59876509, "part": { "kind": "exon", "number": 9 }, "url": "https://dantelabs.com/genes/brip1/variants/n429kfs6" }, { "slug": "n452kfs19", "name": "N452Kfs*19", "commonName": null, "symbol": "BRIP1", "classification": "pathogenic", "stars": 2, "hgvsC": "c.1356_1371del", "position": 61793698, "grch37Position": 59871059, "part": { "kind": "exon", "number": 10 }, "url": "https://dantelabs.com/genes/brip1/variants/n452kfs19" }, { "slug": "n541ifs49", "name": "N541Ifs*49", "commonName": null, "symbol": "BRIP1", "classification": "pathogenic", "stars": 2, "hgvsC": "c.1622del", "position": 61784275, "grch37Position": 59861636, "part": { "kind": "exon", "number": 11 }, "url": "https://dantelabs.com/genes/brip1/variants/n541ifs49" }, { "slug": "n568wfs9", "name": "N568Wfs*9", "commonName": null, "symbol": "BRIP1", "classification": "pathogenic-likely-pathogenic", "stars": 2, "hgvsC": "c.1702_1703del", "position": 61780930, "grch37Position": 59858291, "part": { "kind": "exon", "number": 12 }, "url": "https://dantelabs.com/genes/brip1/variants/n568wfs9" }, { "slug": "n1087kfs4", "name": "N1087Kfs*4", "commonName": null, "symbol": "BRIP1", "classification": "likely-pathogenic", "stars": 2, "hgvsC": "c.3260dup", "position": 61683785, "grch37Position": 59761146, "part": { "kind": "exon", "number": 20 }, "url": "https://dantelabs.com/genes/brip1/variants/n1087kfs4" }, { "slug": "p211lfs3", "name": "P211Lfs*3", "commonName": null, "symbol": "BRIP1", "classification": "pathogenic", "stars": 2, "hgvsC": "c.630_637del", "position": 61808747, "grch37Position": 59886108, "part": { "kind": "exon", "number": 7 }, "url": "https://dantelabs.com/genes/brip1/variants/p211lfs3" }, { "slug": "p488sfs23", "name": "P488Sfs*23", "commonName": null, "symbol": "BRIP1", "classification": "pathogenic", "stars": 2, "hgvsC": "c.1457dup", "position": 61793612, "grch37Position": 59870973, "part": { "kind": "exon", "number": 10 }, "url": "https://dantelabs.com/genes/brip1/variants/p488sfs23" }, { "slug": "p619tfs20", "name": "P619Tfs*20", "commonName": null, "symbol": "BRIP1", "classification": "pathogenic", "stars": 2, "hgvsC": "c.1853_1854insG", "position": 61780342, "grch37Position": 59857703, "part": { "kind": "exon", "number": 13 }, "url": "https://dantelabs.com/genes/brip1/variants/p619tfs20" }, { "slug": "p696afs21", "name": "P696Afs*21", "commonName": null, "symbol": "BRIP1", "classification": "pathogenic", "stars": 2, "hgvsC": "c.2085dup", "position": 61776412, "grch37Position": 59853773, "part": { "kind": "exon", "number": 14 }, "url": "https://dantelabs.com/genes/brip1/variants/p696afs21" }, { "slug": "q25tfs44", "name": "Q25Tfs*44", "commonName": null, "symbol": "BRIP1", "classification": "pathogenic-likely-pathogenic", "stars": 2, "hgvsC": "c.71dup", "position": 61861468, "grch37Position": 59938829, "part": { "kind": "exon", "number": 2 }, "url": "https://dantelabs.com/genes/brip1/variants/q25tfs44" }, { "slug": "q25x", "name": "Q25X", "commonName": null, "symbol": "BRIP1", "classification": "pathogenic", "stars": 2, "hgvsC": "c.73C>T", "position": 61861467, "grch37Position": 59938828, "part": { "kind": "exon", "number": 2 }, "url": "https://dantelabs.com/genes/brip1/variants/q25x" }, { "slug": "q65x", "name": "Q65X", "commonName": null, "symbol": "BRIP1", "classification": "pathogenic-likely-pathogenic", "stars": 2, "hgvsC": "c.193C>T", "position": 61859808, "grch37Position": 59937169, "part": { "kind": "exon", "number": 3 }, "url": "https://dantelabs.com/genes/brip1/variants/q65x" }, { "slug": "q126x", "name": "Q126X", "commonName": null, "symbol": "BRIP1", "classification": "pathogenic", "stars": 2, "hgvsC": "c.376C>T", "position": 61857061, "grch37Position": 59934422, "part": { "kind": "exon", "number": 4 }, "url": "https://dantelabs.com/genes/brip1/variants/q126x" }, { "slug": "q155sfs17", "name": "Q155Sfs*17", "commonName": null, "symbol": "BRIP1", "classification": "pathogenic-likely-pathogenic", "stars": 2, "hgvsC": "c.462dup", "position": 61849173, "grch37Position": 59926534, "part": { "kind": "exon", "number": 5 }, "url": "https://dantelabs.com/genes/brip1/variants/q155sfs17" }, { "slug": "q155x", "name": "Q155X", "commonName": null, "symbol": "BRIP1", "classification": "pathogenic", "stars": 2, "hgvsC": "c.463C>T", "position": 61849173, "grch37Position": 59926534, "part": { "kind": "exon", "number": 5 }, "url": "https://dantelabs.com/genes/brip1/variants/q155x" }, { "slug": "q169h", "name": "Q169H", "commonName": null, "symbol": "BRIP1", "classification": "likely-pathogenic", "stars": 2, "hgvsC": "c.507G>T", "position": 61849129, "grch37Position": 59926490, "part": { "kind": "exon", "number": 5 }, "url": "https://dantelabs.com/genes/brip1/variants/q169h" }, { "slug": "q208x", "name": "Q208X", "commonName": null, "symbol": "BRIP1", "classification": "pathogenic", "stars": 2, "hgvsC": "c.622C>T", "position": 61847106, "grch37Position": 59924467, "part": { "kind": "exon", "number": 6 }, "url": "https://dantelabs.com/genes/brip1/variants/q208x" }, { "slug": "q223x", "name": "Q223X", "commonName": null, "symbol": "BRIP1", "classification": "pathogenic", "stars": 2, "hgvsC": "c.667C>T", "position": 61808718, "grch37Position": 59886079, "part": { "kind": "exon", "number": 7 }, "url": "https://dantelabs.com/genes/brip1/variants/q223x" }, { "slug": "q227x", "name": "Q227X", "commonName": null, "symbol": "BRIP1", "classification": "pathogenic", "stars": 2, "hgvsC": "c.679C>T", "position": 61808706, "grch37Position": 59886067, "part": { "kind": "exon", "number": 7 }, "url": "https://dantelabs.com/genes/brip1/variants/q227x" }, { "slug": "q258x", "name": "Q258X", "commonName": null, "symbol": "BRIP1", "classification": "pathogenic", "stars": 2, "hgvsC": "c.772C>T", "position": 61808613, "grch37Position": 59885974, "part": { "kind": "exon", "number": 7 }, "url": "https://dantelabs.com/genes/brip1/variants/q258x" }, { "slug": "q322sfs16", "name": "Q322Sfs*16", "commonName": null, "symbol": "BRIP1", "classification": "pathogenic", "stars": 2, "hgvsC": "c.964del", "position": 61801428, "grch37Position": 59878789, "part": { "kind": "exon", "number": 8 }, "url": "https://dantelabs.com/genes/brip1/variants/q322sfs16" }, { "slug": "q322x", "name": "Q322X", "commonName": null, "symbol": "BRIP1", "classification": "pathogenic", "stars": 2, "hgvsC": "c.964C>T", "position": 61801429, "grch37Position": 59878790, "part": { "kind": "exon", "number": 8 }, "url": "https://dantelabs.com/genes/brip1/variants/q322x" }, { "slug": "q360x", "name": "Q360X", "commonName": null, "symbol": "BRIP1", "classification": "pathogenic", "stars": 2, "hgvsC": "c.1078C>T", "position": 61801315, "grch37Position": 59878676, "part": { "kind": "exon", "number": 8 }, "url": "https://dantelabs.com/genes/brip1/variants/q360x" }, { "slug": "q376nfs18", "name": "Q376Nfs*18", "commonName": null, "symbol": "BRIP1", "classification": "pathogenic", "stars": 2, "hgvsC": "c.1126_1127del", "position": 61801265, "grch37Position": 59878626, "part": { "kind": "exon", "number": 8 }, "url": "https://dantelabs.com/genes/brip1/variants/q376nfs18" }, { "slug": "q376x", "name": "Q376X", "commonName": null, "symbol": "BRIP1", "classification": "pathogenic", "stars": 2, "hgvsC": "c.1126C>T", "position": 61801267, "grch37Position": 59878628, "part": { "kind": "exon", "number": 8 }, "url": "https://dantelabs.com/genes/brip1/variants/q376x" }, { "slug": "q388x", "name": "Q388X", "commonName": null, "symbol": "BRIP1", "classification": "pathogenic", "stars": 2, "hgvsC": "c.1162C>T", "position": 61799278, "grch37Position": 59876639, "part": { "kind": "exon", "number": 9 }, "url": "https://dantelabs.com/genes/brip1/variants/q388x" }, { "slug": "q414x", "name": "Q414X", "commonName": null, "symbol": "BRIP1", "classification": "pathogenic", "stars": 2, "hgvsC": "c.1240C>T", "position": 61799200, "grch37Position": 59876561, "part": { "kind": "exon", "number": 9 }, "url": "https://dantelabs.com/genes/brip1/variants/q414x" }, { "slug": "q491x", "name": "Q491X", "commonName": null, "symbol": "BRIP1", "classification": "pathogenic-likely-pathogenic", "stars": 2, "hgvsC": "c.1471C>T", "position": 61793599, "grch37Position": 59870960, "part": { "kind": "exon", "number": 10 }, "url": "https://dantelabs.com/genes/brip1/variants/q491x" }, { "slug": "q499x", "name": "Q499X", "commonName": null, "symbol": "BRIP1", "classification": "pathogenic-likely-pathogenic", "stars": 2, "hgvsC": "c.1495C>T", "position": 61784403, "grch37Position": 59861764, "part": { "kind": "exon", "number": 11 }, "url": "https://dantelabs.com/genes/brip1/variants/q499x" }, { "slug": "q540x", "name": "Q540X", "commonName": null, "symbol": "BRIP1", "classification": "pathogenic", "stars": 2, "hgvsC": "c.1618C>T", "position": 61784280, "grch37Position": 59861641, "part": { "kind": "exon", "number": 11 }, "url": "https://dantelabs.com/genes/brip1/variants/q540x" }, { "slug": "q554rfs36", "name": "Q554Rfs*36", "commonName": null, "symbol": "BRIP1", "classification": "pathogenic", "stars": 2, "hgvsC": "c.1661del", "position": 61780972, "grch37Position": 59858333, "part": { "kind": "exon", "number": 12 }, "url": "https://dantelabs.com/genes/brip1/variants/q554rfs36" }, { "slug": "q554x", "name": "Q554X", "commonName": null, "symbol": "BRIP1", "classification": "pathogenic", "stars": 2, "hgvsC": "c.1660C>T", "position": 61780974, "grch37Position": 59858335, "part": { "kind": "exon", "number": 12 }, "url": "https://dantelabs.com/genes/brip1/variants/q554x" }, { "slug": "q582x", "name": "Q582X", "commonName": null, "symbol": "BRIP1", "classification": "pathogenic", "stars": 2, "hgvsC": "c.1744C>T", "position": 61780890, "grch37Position": 59858251, "part": { "kind": "exon", "number": 12 }, "url": "https://dantelabs.com/genes/brip1/variants/q582x" }, { "slug": "q665x", "name": "Q665X", "commonName": null, "symbol": "BRIP1", "classification": "pathogenic", "stars": 2, "hgvsC": "c.1993C>T", "position": 61776505, "grch37Position": 59853866, "part": { "kind": "exon", "number": 14 }, "url": "https://dantelabs.com/genes/brip1/variants/q665x" }, { "slug": "q685x", "name": "Q685X", "commonName": null, "symbol": "BRIP1", "classification": "pathogenic", "stars": 2, "hgvsC": "c.2053C>T", "position": 61776445, "grch37Position": 59853806, "part": { "kind": "exon", "number": 14 }, "url": "https://dantelabs.com/genes/brip1/variants/q685x" }, { "slug": "q728x", "name": "Q728X", "commonName": null, "symbol": "BRIP1", "classification": "pathogenic", "stars": 2, "hgvsC": "c.2182C>T", "position": 61744507, "grch37Position": 59821868, "part": { "kind": "exon", "number": 15 }, "url": "https://dantelabs.com/genes/brip1/variants/q728x" }, { "slug": "q740rfs19", "name": "Q740Rfs*19", "commonName": null, "symbol": "BRIP1", "classification": "pathogenic", "stars": 2, "hgvsC": "c.2218del", "position": 61744470, "grch37Position": 59821831, "part": { "kind": "exon", "number": 15 }, "url": "https://dantelabs.com/genes/brip1/variants/q740rfs19" }, { "slug": "q740x", "name": "Q740X", "commonName": null, "symbol": "BRIP1", "classification": "pathogenic", "stars": 2, "hgvsC": "c.2218C>T", "position": 61744471, "grch37Position": 59821832, "part": { "kind": "exon", "number": 15 }, "url": "https://dantelabs.com/genes/brip1/variants/q740x" }, { "slug": "q793x", "name": "Q793X", "commonName": null, "symbol": "BRIP1", "classification": "pathogenic", "stars": 2, "hgvsC": "c.2377C>T", "position": 61743015, "grch37Position": 59820376, "part": { "kind": "exon", "number": 16 }, "url": "https://dantelabs.com/genes/brip1/variants/q793x" }, { "slug": "q815x", "name": "Q815X", "commonName": null, "symbol": "BRIP1", "classification": "pathogenic", "stars": 2, "hgvsC": "c.2443C>T", "position": 61716000, "grch37Position": 59793361, "part": { "kind": "exon", "number": 17 }, "url": "https://dantelabs.com/genes/brip1/variants/q815x" }, { "slug": "q827x", "name": "Q827X", "commonName": null, "symbol": "BRIP1", "classification": "pathogenic", "stars": 2, "hgvsC": "c.2479C>T", "position": 61715964, "grch37Position": 59793325, "part": { "kind": "exon", "number": 17 }, "url": "https://dantelabs.com/genes/brip1/variants/q827x" }, { "slug": "q866x", "name": "Q866X", "commonName": null, "symbol": "BRIP1", "classification": "pathogenic-likely-pathogenic", "stars": 2, "hgvsC": "c.2596C>T", "position": 61686145, "grch37Position": 59763506, "part": { "kind": "exon", "number": 19 }, "url": "https://dantelabs.com/genes/brip1/variants/q866x" }, { "slug": "q869rfs28", "name": "Q869Rfs*28", "commonName": null, "symbol": "BRIP1", "classification": "pathogenic", "stars": 2, "hgvsC": "c.2606del", "position": 61686134, "grch37Position": 59763495, "part": { "kind": "exon", "number": 19 }, "url": "https://dantelabs.com/genes/brip1/variants/q869rfs28" }, { "slug": "q869x", "name": "Q869X", "commonName": null, "symbol": "BRIP1", "classification": "pathogenic", "stars": 2, "hgvsC": "c.2605C>T", "position": 61686136, "grch37Position": 59763497, "part": { "kind": "exon", "number": 19 }, "url": "https://dantelabs.com/genes/brip1/variants/q869x" }, { "slug": "q903x", "name": "Q903X", "commonName": null, "symbol": "BRIP1", "classification": "pathogenic", "stars": 2, "hgvsC": "c.2707C>T", "position": 61686034, "grch37Position": 59763395, "part": { "kind": "exon", "number": 19 }, "url": "https://dantelabs.com/genes/brip1/variants/q903x" }, { "slug": "q944x", "name": "Q944X", "commonName": null, "symbol": "BRIP1", "classification": "pathogenic", "stars": 2, "hgvsC": "c.2830C>T", "position": 61685911, "grch37Position": 59763272, "part": { "kind": "exon", "number": 19 }, "url": "https://dantelabs.com/genes/brip1/variants/q944x" }, { "slug": "r160efs5", "name": "R160Efs*5", "commonName": null, "symbol": "BRIP1", "classification": "pathogenic", "stars": 2, "hgvsC": "c.478del", "position": 61849157, "grch37Position": 59926518, "part": { "kind": "exon", "number": 5 }, "url": "https://dantelabs.com/genes/brip1/variants/r160efs5" }, { "slug": "r162x", "name": "R162X", "commonName": null, "symbol": "BRIP1", "classification": "pathogenic", "stars": 2, "hgvsC": "c.484C>T", "position": 61849152, "grch37Position": 59926513, "part": { "kind": "exon", "number": 5 }, "url": "https://dantelabs.com/genes/brip1/variants/r162x" }, { "slug": "r216gfs58", "name": "R216Gfs*58", "commonName": null, "symbol": "BRIP1", "classification": "pathogenic-likely-pathogenic", "stars": 2, "hgvsC": "c.646del", "position": 61808738, "grch37Position": 59886099, "part": { "kind": "exon", "number": 7 }, "url": "https://dantelabs.com/genes/brip1/variants/r216gfs58" }, { "slug": "r251c", "name": "R251C", "commonName": null, "symbol": "BRIP1", "classification": "pathogenic-likely-pathogenic", "stars": 2, "hgvsC": "c.751C>T", "position": 61808634, "grch37Position": 59885995, "part": { "kind": "exon", "number": 7 }, "url": "https://dantelabs.com/genes/brip1/variants/r251c" }, { "slug": "r356x", "name": "R356X", "commonName": null, "symbol": "BRIP1", "classification": "pathogenic", "stars": 2, "hgvsC": "c.1066C>T", "position": 61801327, "grch37Position": 59878688, "part": { "kind": "exon", "number": 8 }, "url": "https://dantelabs.com/genes/brip1/variants/r356x" }, { "slug": "r439x", "name": "R439X", "commonName": null, "symbol": "BRIP1", "classification": "pathogenic", "stars": 2, "hgvsC": "c.1315C>T", "position": 61799125, "grch37Position": 59876486, "part": { "kind": "exon", "number": 9 }, "url": "https://dantelabs.com/genes/brip1/variants/r439x" }, { "slug": "r581x", "name": "R581X", "commonName": null, "symbol": "BRIP1", "classification": "pathogenic", "stars": 2, "hgvsC": "c.1741C>T", "position": 61780893, "grch37Position": 59858254, "part": { "kind": "exon", "number": 12 }, "url": "https://dantelabs.com/genes/brip1/variants/r581x" }, { "slug": "r658sfs11", "name": "R658Sfs*11", "commonName": null, "symbol": "BRIP1", "classification": "pathogenic", "stars": 2, "hgvsC": "c.1967dup", "position": 61776530, "grch37Position": 59853891, "part": { "kind": "exon", "number": 14 }, "url": "https://dantelabs.com/genes/brip1/variants/r658sfs11" }, { "slug": "r798tfs5", "name": "R798Tfs*5", "commonName": null, "symbol": "BRIP1", "classification": "pathogenic", "stars": 2, "hgvsC": "c.2391dup", "position": 61716051, "grch37Position": 59793412, "part": { "kind": "exon", "number": 17 }, "url": "https://dantelabs.com/genes/brip1/variants/r798tfs5" }, { "slug": "r798x", "name": "R798X", "commonName": null, "symbol": "BRIP1", "classification": "pathogenic", "stars": 2, "hgvsC": "c.2392C>T", "position": 61716051, "grch37Position": 59793412, "part": { "kind": "exon", "number": 17 }, "url": "https://dantelabs.com/genes/brip1/variants/r798x" }, { "slug": "r823gfs3", "name": "R823Gfs*3", "commonName": null, "symbol": "BRIP1", "classification": "pathogenic-likely-pathogenic", "stars": 2, "hgvsC": "c.2467del", "position": 61715975, "grch37Position": 59793336, "part": { "kind": "exon", "number": 17 }, "url": "https://dantelabs.com/genes/brip1/variants/r823gfs3" }, { "slug": "r836kfs2", "name": "R836Kfs*2", "commonName": null, "symbol": "BRIP1", "classification": "pathogenic", "stars": 2, "hgvsC": "c.2507_2508del", "position": 61693496, "grch37Position": 59770857, "part": { "kind": "exon", "number": 18 }, "url": "https://dantelabs.com/genes/brip1/variants/r836kfs2" }, { "slug": "s24vfs45", "name": "S24Vfs*45", "commonName": null, "symbol": "BRIP1", "classification": "pathogenic-likely-pathogenic", "stars": 2, "hgvsC": "c.68dup", "position": 61861471, "grch37Position": 59938832, "part": { "kind": "exon", "number": 2 }, "url": "https://dantelabs.com/genes/brip1/variants/s24vfs45" }, { "slug": "s38kfs31", "name": "S38Kfs*31", "commonName": null, "symbol": "BRIP1", "classification": "pathogenic", "stars": 2, "hgvsC": "c.112dup", "position": 61859888, "grch37Position": 59937249, "part": { "kind": "exon", "number": 3 }, "url": "https://dantelabs.com/genes/brip1/variants/s38kfs31" }, { "slug": "s68lfs10", "name": "S68Lfs*10", "commonName": null, "symbol": "BRIP1", "classification": "pathogenic", "stars": 2, "hgvsC": "c.200_201dup", "position": 61859799, "grch37Position": 59937160, "part": { "kind": "exon", "number": 3 }, "url": "https://dantelabs.com/genes/brip1/variants/s68lfs10" }, { "slug": "s206rfs68", "name": "S206Rfs*68", "commonName": null, "symbol": "BRIP1", "classification": "pathogenic-likely-pathogenic", "stars": 2, "hgvsC": "c.616del", "position": 61847111, "grch37Position": 59924472, "part": { "kind": "exon", "number": 6 }, "url": "https://dantelabs.com/genes/brip1/variants/s206rfs68" }, { "slug": "s215cfs5", "name": "S215Cfs*5", "commonName": null, "symbol": "BRIP1", "classification": "pathogenic", "stars": 2, "hgvsC": "c.643_644insGTGGCACCCC", "position": 61808741, "grch37Position": 59886102, "part": { "kind": "exon", "number": 7 }, "url": "https://dantelabs.com/genes/brip1/variants/s215cfs5" }, { "slug": "s215x", "name": "S215X", "commonName": null, "symbol": "BRIP1", "classification": "pathogenic", "stars": 2, "hgvsC": "c.644_645del", "position": 61808739, "grch37Position": 59886100, "part": { "kind": "exon", "number": 7 }, "url": "https://dantelabs.com/genes/brip1/variants/s215x" }, { "slug": "s269x", "name": "S269X", "commonName": null, "symbol": "BRIP1", "classification": "pathogenic-likely-pathogenic", "stars": 2, "hgvsC": "c.806C>G", "position": 61808579, "grch37Position": 59885940, "part": { "kind": "exon", "number": 7 }, "url": "https://dantelabs.com/genes/brip1/variants/s269x" }, { "slug": "s320vfs18", "name": "S320Vfs*18", "commonName": null, "symbol": "BRIP1", "classification": "pathogenic", "stars": 2, "hgvsC": "c.958del", "position": 61801434, "grch37Position": 59878795, "part": { "kind": "exon", "number": 8 }, "url": "https://dantelabs.com/genes/brip1/variants/s320vfs18" }, { "slug": "s380vfs4", "name": "S380Vfs*4", "commonName": null, "symbol": "BRIP1", "classification": "pathogenic-likely-pathogenic", "stars": 2, "hgvsC": "c.1138del", "position": 61801254, "grch37Position": 59878615, "part": { "kind": "exon", "number": 8 }, "url": "https://dantelabs.com/genes/brip1/variants/s380vfs4" }, { "slug": "s495ffs16", "name": "S495Ffs*16", "commonName": null, "symbol": "BRIP1", "classification": "pathogenic", "stars": 2, "hgvsC": "c.1483dup", "position": 61784414, "grch37Position": 59861775, "part": { "kind": "exon", "number": 11 }, "url": "https://dantelabs.com/genes/brip1/variants/s495ffs16" }, { "slug": "s580x", "name": "S580X", "commonName": null, "symbol": "BRIP1", "classification": "pathogenic", "stars": 2, "hgvsC": "c.1739C>G", "position": 61780895, "grch37Position": 59858256, "part": { "kind": "exon", "number": 12 }, "url": "https://dantelabs.com/genes/brip1/variants/s580x" }, { "slug": "s601qfs12", "name": "S601Qfs*12", "commonName": null, "symbol": "BRIP1", "classification": "pathogenic", "stars": 2, "hgvsC": "c.1801del", "position": 61780394, "grch37Position": 59857755, "part": { "kind": "exon", "number": 13 }, "url": "https://dantelabs.com/genes/brip1/variants/s601qfs12" }, { "slug": "s624rfs64", "name": "S624Rfs*64", "commonName": null, "symbol": "BRIP1", "classification": "pathogenic", "stars": 2, "hgvsC": "c.1870del", "position": 61780325, "grch37Position": 59857686, "part": { "kind": "exon", "number": 13 }, "url": "https://dantelabs.com/genes/brip1/variants/s624rfs64" }, { "slug": "s624x", "name": "S624X", "commonName": null, "symbol": "BRIP1", "classification": "pathogenic", "stars": 2, "hgvsC": "c.1871C>A", "position": 61780325, "grch37Position": 59857686, "part": { "kind": "exon", "number": 13 }, "url": "https://dantelabs.com/genes/brip1/variants/s624x" }, { "slug": "s644x", "name": "S644X", "commonName": null, "symbol": "BRIP1", "classification": "pathogenic", "stars": 2, "hgvsC": "c.1931C>A", "position": 61780265, "grch37Position": 59857626, "part": { "kind": "exon", "number": 13 }, "url": "https://dantelabs.com/genes/brip1/variants/s644x" }, { "slug": "s766rfs14", "name": "S766Rfs*14", "commonName": null, "symbol": "BRIP1", "classification": "pathogenic", "stars": 2, "hgvsC": "c.2298_2301del", "position": 61743090, "grch37Position": 59820451, "part": { "kind": "exon", "number": 16 }, "url": "https://dantelabs.com/genes/brip1/variants/s766rfs14" }, { "slug": "s805x", "name": "S805X", "commonName": null, "symbol": "BRIP1", "classification": "pathogenic-likely-pathogenic", "stars": 2, "hgvsC": "c.2414C>A", "position": 61716029, "grch37Position": 59793390, "part": { "kind": "exon", "number": 17 }, "url": "https://dantelabs.com/genes/brip1/variants/s805x" }, { "slug": "s861ffs2", "name": "S861Ffs*2", "commonName": null, "symbol": "BRIP1", "classification": "pathogenic", "stars": 2, "hgvsC": "c.2581dup", "position": 61686159, "grch37Position": 59763520, "part": { "kind": "exon", "number": 19 }, "url": "https://dantelabs.com/genes/brip1/variants/s861ffs2" }, { "slug": "s895x", "name": "S895X", "commonName": null, "symbol": "BRIP1", "classification": "pathogenic", "stars": 2, "hgvsC": "c.2684_2687del", "position": 61686053, "grch37Position": 59763414, "part": { "kind": "exon", "number": 19 }, "url": "https://dantelabs.com/genes/brip1/variants/s895x" }, { "slug": "s930x", "name": "S930X", "commonName": null, "symbol": "BRIP1", "classification": "pathogenic", "stars": 2, "hgvsC": "c.2789C>A", "position": 61685952, "grch37Position": 59763313, "part": { "kind": "exon", "number": 19 }, "url": "https://dantelabs.com/genes/brip1/variants/s930x" }, { "slug": "t48qfs7", "name": "T48Qfs*7", "commonName": null, "symbol": "BRIP1", "classification": "pathogenic", "stars": 2, "hgvsC": "c.141del", "position": 61859859, "grch37Position": 59937220, "part": { "kind": "exon", "number": 3 }, "url": "https://dantelabs.com/genes/brip1/variants/t48qfs7" }, { "slug": "t132nfs10", "name": "T132Nfs*10", "commonName": null, "symbol": "BRIP1", "classification": "pathogenic", "stars": 2, "hgvsC": "c.394dup", "position": 61849241, "grch37Position": 59926602, "part": { "kind": "exon", "number": 5 }, "url": "https://dantelabs.com/genes/brip1/variants/t132nfs10" }, { "slug": "t260ifs14", "name": "T260Ifs*14", "commonName": null, "symbol": "BRIP1", "classification": "pathogenic", "stars": 2, "hgvsC": "c.779del", "position": 61808605, "grch37Position": 59885966, "part": { "kind": "exon", "number": 7 }, "url": "https://dantelabs.com/genes/brip1/variants/t260ifs14" }, { "slug": "t260yfs2", "name": "T260Yfs*2", "commonName": null, "symbol": "BRIP1", "classification": "pathogenic", "stars": 2, "hgvsC": "c.777dup", "position": 61808607, "grch37Position": 59885968, "part": { "kind": "exon", "number": 7 }, "url": "https://dantelabs.com/genes/brip1/variants/t260yfs2" }, { "slug": "t282nfs6", "name": "T282Nfs*6", "commonName": null, "symbol": "BRIP1", "classification": "pathogenic", "stars": 2, "hgvsC": "c.844dup", "position": 61808540, "grch37Position": 59885901, "part": { "kind": "exon", "number": 7 }, "url": "https://dantelabs.com/genes/brip1/variants/t282nfs6" }, { "slug": "t486ifs40", "name": "T486Ifs*40", "commonName": null, "symbol": "BRIP1", "classification": "pathogenic", "stars": 2, "hgvsC": "c.1457del", "position": 61793612, "grch37Position": 59870973, "part": { "kind": "exon", "number": 10 }, "url": "https://dantelabs.com/genes/brip1/variants/t486ifs40" }, { "slug": "t630nfs9", "name": "T630Nfs*9", "commonName": null, "symbol": "BRIP1", "classification": "pathogenic", "stars": 2, "hgvsC": "c.1888dup", "position": 61780307, "grch37Position": 59857668, "part": { "kind": "exon", "number": 13 }, "url": "https://dantelabs.com/genes/brip1/variants/t630nfs9" }, { "slug": "t630nfs58", "name": "T630Nfs*58", "commonName": null, "symbol": "BRIP1", "classification": "pathogenic-likely-pathogenic", "stars": 2, "hgvsC": "c.1889del", "position": 61780306, "grch37Position": 59857667, "part": { "kind": "exon", "number": 13 }, "url": "https://dantelabs.com/genes/brip1/variants/t630nfs58" }, { "slug": "t733kfs27", "name": "T733Kfs*27", "commonName": null, "symbol": "BRIP1", "classification": "pathogenic", "stars": 2, "hgvsC": "c.2196_2197dup", "position": 61744491, "grch37Position": 59821852, "part": { "kind": "exon", "number": 15 }, "url": "https://dantelabs.com/genes/brip1/variants/t733kfs27" }, { "slug": "t733qfs26", "name": "T733Qfs*26", "commonName": null, "symbol": "BRIP1", "classification": "pathogenic", "stars": 2, "hgvsC": "c.2197del", "position": 61744491, "grch37Position": 59821852, "part": { "kind": "exon", "number": 15 }, "url": "https://dantelabs.com/genes/brip1/variants/t733qfs26" }, { "slug": "t912dfs27", "name": "T912Dfs*27", "commonName": null, "symbol": "BRIP1", "classification": "pathogenic", "stars": 2, "hgvsC": "c.2732dup", "position": 61686008, "grch37Position": 59763369, "part": { "kind": "exon", "number": 19 }, "url": "https://dantelabs.com/genes/brip1/variants/t912dfs27" }, { "slug": "v13x", "name": "V13X", "commonName": null, "symbol": "BRIP1", "classification": "pathogenic", "stars": 2, "hgvsC": "c.37del", "position": 61861502, "grch37Position": 59938863, "part": { "kind": "exon", "number": 2 }, "url": "https://dantelabs.com/genes/brip1/variants/v13x" }, { "slug": "v82yfs19", "name": "V82Yfs*19", "commonName": null, "symbol": "BRIP1", "classification": "pathogenic-likely-pathogenic", "stars": 2, "hgvsC": "c.243del", "position": 61857193, "grch37Position": 59934554, "part": { "kind": "exon", "number": 4 }, "url": "https://dantelabs.com/genes/brip1/variants/v82yfs19" }, { "slug": "v180kfs15", "name": "V180Kfs*15", "commonName": null, "symbol": "BRIP1", "classification": "pathogenic", "stars": 2, "hgvsC": "c.535_536dup", "position": 61847191, "grch37Position": 59924552, "part": { "kind": "exon", "number": 6 }, "url": "https://dantelabs.com/genes/brip1/variants/v180kfs15" }, { "slug": "v193x", "name": "V193X", "commonName": null, "symbol": "BRIP1", "classification": "pathogenic", "stars": 2, "hgvsC": "c.576del", "position": 61847151, "grch37Position": 59924512, "part": { "kind": "exon", "number": 6 }, "url": "https://dantelabs.com/genes/brip1/variants/v193x" }, { "slug": "v289afs14", "name": "V289Afs*14", "commonName": null, "symbol": "BRIP1", "classification": "pathogenic", "stars": 2, "hgvsC": "c.866del", "position": 61808518, "grch37Position": 59885879, "part": { "kind": "exon", "number": 7 }, "url": "https://dantelabs.com/genes/brip1/variants/v289afs14" }, { "slug": "v390sfs3", "name": "V390Sfs*3", "commonName": null, "symbol": "BRIP1", "classification": "pathogenic-likely-pathogenic", "stars": 2, "hgvsC": "c.1167del", "position": 61799272, "grch37Position": 59876633, "part": { "kind": "exon", "number": 9 }, "url": "https://dantelabs.com/genes/brip1/variants/v390sfs3" }, { "slug": "v413ffs10", "name": "V413Ffs*10", "commonName": null, "symbol": "BRIP1", "classification": "pathogenic", "stars": 2, "hgvsC": "c.1236del", "position": 61799203, "grch37Position": 59876564, "part": { "kind": "exon", "number": 9 }, "url": "https://dantelabs.com/genes/brip1/variants/v413ffs10" }, { "slug": "v497rfs25", "name": "V497Rfs*25", "commonName": null, "symbol": "BRIP1", "classification": "pathogenic", "stars": 2, "hgvsC": "c.1488_1500del", "position": 61784397, "grch37Position": 59861758, "part": { "kind": "exon", "number": 11 }, "url": "https://dantelabs.com/genes/brip1/variants/v497rfs25" }, { "slug": "v598wfs15", "name": "V598Wfs*15", "commonName": null, "symbol": "BRIP1", "classification": "pathogenic", "stars": 2, "hgvsC": "c.1791del", "position": 61780842, "grch37Position": 59858203, "part": { "kind": "exon", "number": 12 }, "url": "https://dantelabs.com/genes/brip1/variants/v598wfs15" }, { "slug": "v611ffs2", "name": "V611Ffs*2", "commonName": null, "symbol": "BRIP1", "classification": "pathogenic", "stars": 2, "hgvsC": "c.1831del", "position": 61780364, "grch37Position": 59857725, "part": { "kind": "exon", "number": 13 }, "url": "https://dantelabs.com/genes/brip1/variants/v611ffs2" }, { "slug": "v646ffs42", "name": "V646Ffs*42", "commonName": null, "symbol": "BRIP1", "classification": "pathogenic", "stars": 2, "hgvsC": "c.1936del", "position": 61776561, "grch37Position": 59853922, "part": { "kind": "exon", "number": 14 }, "url": "https://dantelabs.com/genes/brip1/variants/v646ffs42" }, { "slug": "v687cfs30", "name": "V687Cfs*30", "commonName": null, "symbol": "BRIP1", "classification": "pathogenic", "stars": 2, "hgvsC": "c.2058dup", "position": 61776439, "grch37Position": 59853800, "part": { "kind": "exon", "number": 14 }, "url": "https://dantelabs.com/genes/brip1/variants/v687cfs30" }, { "slug": "v687efs29", "name": "V687Efs*29", "commonName": null, "symbol": "BRIP1", "classification": "pathogenic", "stars": 2, "hgvsC": "c.2060_2061del", "position": 61776436, "grch37Position": 59853797, "part": { "kind": "exon", "number": 14 }, "url": "https://dantelabs.com/genes/brip1/variants/v687efs29" }, { "slug": "v723sfs14", "name": "V723Sfs*14", "commonName": null, "symbol": "BRIP1", "classification": "pathogenic", "stars": 2, "hgvsC": "c.2166dup", "position": 61744522, "grch37Position": 59821883, "part": { "kind": "exon", "number": 15 }, "url": "https://dantelabs.com/genes/brip1/variants/v723sfs14" }, { "slug": "v741gfs4", "name": "V741Gfs*4", "commonName": null, "symbol": "BRIP1", "classification": "pathogenic", "stars": 2, "hgvsC": "c.2221dup", "position": 61744467, "grch37Position": 59821828, "part": { "kind": "exon", "number": 15 }, "url": "https://dantelabs.com/genes/brip1/variants/v741gfs4" }, { "slug": "v864yfs13", "name": "V864Yfs*13", "commonName": null, "symbol": "BRIP1", "classification": "pathogenic", "stars": 2, "hgvsC": "c.2589_2590insTACG", "position": 61686151, "grch37Position": 59763512, "part": { "kind": "exon", "number": 19 }, "url": "https://dantelabs.com/genes/brip1/variants/v864yfs13" }, { "slug": "w5x", "name": "W5X", "commonName": null, "symbol": "BRIP1", "classification": "pathogenic", "stars": 2, "hgvsC": "c.15G>A", "position": 61861525, "grch37Position": 59938886, "part": { "kind": "exon", "number": 2 }, "url": "https://dantelabs.com/genes/brip1/variants/w5x" }, { "slug": "w63x", "name": "W63X", "commonName": null, "symbol": "BRIP1", "classification": "pathogenic", "stars": 2, "hgvsC": "c.188G>A", "position": 61859813, "grch37Position": 59937174, "part": { "kind": "exon", "number": 3 }, "url": "https://dantelabs.com/genes/brip1/variants/w63x" }, { "slug": "w335x", "name": "W335X", "commonName": null, "symbol": "BRIP1", "classification": "pathogenic", "stars": 2, "hgvsC": "c.1004G>A", "position": 61801389, "grch37Position": 59878750, "part": { "kind": "exon", "number": 8 }, "url": "https://dantelabs.com/genes/brip1/variants/w335x" }, { "slug": "w448x", "name": "W448X", "commonName": null, "symbol": "BRIP1", "classification": "pathogenic", "stars": 2, "hgvsC": "c.1343G>A", "position": 61793727, "grch37Position": 59871088, "part": { "kind": "exon", "number": 10 }, "url": "https://dantelabs.com/genes/brip1/variants/w448x" }, { "slug": "w468x", "name": "W468X", "commonName": null, "symbol": "BRIP1", "classification": "pathogenic", "stars": 2, "hgvsC": "c.1403G>A", "position": 61793667, "grch37Position": 59871028, "part": { "kind": "exon", "number": 10 }, "url": "https://dantelabs.com/genes/brip1/variants/w468x" }, { "slug": "w558x", "name": "W558X", "commonName": null, "symbol": "BRIP1", "classification": "pathogenic", "stars": 2, "hgvsC": "c.1673G>A", "position": 61780961, "grch37Position": 59858322, "part": { "kind": "exon", "number": 12 }, "url": "https://dantelabs.com/genes/brip1/variants/w558x" }, { "slug": "w592gfs3", "name": "W592Gfs*3", "commonName": null, "symbol": "BRIP1", "classification": "pathogenic-likely-pathogenic", "stars": 2, "hgvsC": "c.1770del", "position": 61780863, "grch37Position": 59858224, "part": { "kind": "exon", "number": 12 }, "url": "https://dantelabs.com/genes/brip1/variants/w592gfs3" }, { "slug": "w592x", "name": "W592X", "commonName": null, "symbol": "BRIP1", "classification": "pathogenic", "stars": 2, "hgvsC": "c.1776G>A", "position": 61780858, "grch37Position": 59858219, "part": { "kind": "exon", "number": 12 }, "url": "https://dantelabs.com/genes/brip1/variants/w592x" }, { "slug": "w647x", "name": "W647X", "commonName": null, "symbol": "BRIP1", "classification": "pathogenic", "stars": 2, "hgvsC": "c.1941G>A", "position": 61776557, "grch37Position": 59853918, "part": { "kind": "exon", "number": 14 }, "url": "https://dantelabs.com/genes/brip1/variants/w647x" }, { "slug": "w708x", "name": "W708X", "commonName": null, "symbol": "BRIP1", "classification": "pathogenic", "stars": 2, "hgvsC": "c.2123G>A", "position": 61744566, "grch37Position": 59821927, "part": { "kind": "exon", "number": 15 }, "url": "https://dantelabs.com/genes/brip1/variants/w708x" }, { "slug": "w714x", "name": "W714X", "commonName": null, "symbol": "BRIP1", "classification": "pathogenic", "stars": 2, "hgvsC": "c.2142G>A", "position": 61744547, "grch37Position": 59821908, "part": { "kind": "exon", "number": 15 }, "url": "https://dantelabs.com/genes/brip1/variants/w714x" }, { "slug": "w816cfs10", "name": "W816Cfs*10", "commonName": null, "symbol": "BRIP1", "classification": "pathogenic", "stars": 2, "hgvsC": "c.2448del", "position": 61715994, "grch37Position": 59793355, "part": { "kind": "exon", "number": 17 }, "url": "https://dantelabs.com/genes/brip1/variants/w816cfs10" }, { "slug": "w816x", "name": "W816X", "commonName": null, "symbol": "BRIP1", "classification": "pathogenic", "stars": 2, "hgvsC": "c.2447G>A", "position": 61715996, "grch37Position": 59793357, "part": { "kind": "exon", "number": 17 }, "url": "https://dantelabs.com/genes/brip1/variants/w816x" }, { "slug": "w839x", "name": "W839X", "commonName": null, "symbol": "BRIP1", "classification": "pathogenic", "stars": 2, "hgvsC": "c.2517G>A", "position": 61693488, "grch37Position": 59770849, "part": { "kind": "exon", "number": 18 }, "url": "https://dantelabs.com/genes/brip1/variants/w839x" }, { "slug": "w863x", "name": "W863X", "commonName": null, "symbol": "BRIP1", "classification": "pathogenic", "stars": 2, "hgvsC": "c.2589G>A", "position": 61686152, "grch37Position": 59763513, "part": { "kind": "exon", "number": 19 }, "url": "https://dantelabs.com/genes/brip1/variants/w863x" }, { "slug": "y8x", "name": "Y8X", "commonName": null, "symbol": "BRIP1", "classification": "pathogenic", "stars": 2, "hgvsC": "c.24T>A", "position": 61861516, "grch37Position": 59938877, "part": { "kind": "exon", "number": 2 }, "url": "https://dantelabs.com/genes/brip1/variants/y8x" }, { "slug": "y16tfs13", "name": "Y16Tfs*13", "commonName": null, "symbol": "BRIP1", "classification": "pathogenic-likely-pathogenic", "stars": 2, "hgvsC": "c.46del", "position": 61861493, "grch37Position": 59938854, "part": { "kind": "exon", "number": 2 }, "url": "https://dantelabs.com/genes/brip1/variants/y16tfs13" }, { "slug": "y19lfs2", "name": "Y19Lfs*2", "commonName": null, "symbol": "BRIP1", "classification": "pathogenic", "stars": 2, "hgvsC": "c.55dup", "position": 61861484, "grch37Position": 59938845, "part": { "kind": "exon", "number": 2 }, "url": "https://dantelabs.com/genes/brip1/variants/y19lfs2" }, { "slug": "y22x", "name": "Y22X", "commonName": null, "symbol": "BRIP1", "classification": "pathogenic", "stars": 2, "hgvsC": "c.66C>G", "position": 61861474, "grch37Position": 59938835, "part": { "kind": "exon", "number": 2 }, "url": "https://dantelabs.com/genes/brip1/variants/y22x" }, { "slug": "y147sfs10", "name": "Y147Sfs*10", "commonName": null, "symbol": "BRIP1", "classification": "pathogenic-likely-pathogenic", "stars": 2, "hgvsC": "c.438_440delinsCT", "position": 61849196, "grch37Position": 59926557, "part": { "kind": "exon", "number": 5 }, "url": "https://dantelabs.com/genes/brip1/variants/y147sfs10" }, { "slug": "y147x", "name": "Y147X", "commonName": null, "symbol": "BRIP1", "classification": "pathogenic", "stars": 2, "hgvsC": "c.440dup", "position": 61849195, "grch37Position": 59926556, "part": { "kind": "exon", "number": 5 }, "url": "https://dantelabs.com/genes/brip1/variants/y147x" }, { "slug": "y247x", "name": "Y247X", "commonName": null, "symbol": "BRIP1", "classification": "pathogenic-likely-pathogenic", "stars": 2, "hgvsC": "c.734_740dup", "position": 61808644, "grch37Position": 59886005, "part": { "kind": "exon", "number": 7 }, "url": "https://dantelabs.com/genes/brip1/variants/y247x" }, { "slug": "y311ffs26", "name": "Y311Ffs*26", "commonName": null, "symbol": "BRIP1", "classification": "pathogenic", "stars": 2, "hgvsC": "c.932_935del", "position": 61801457, "grch37Position": 59878818, "part": { "kind": "exon", "number": 8 }, "url": "https://dantelabs.com/genes/brip1/variants/y311ffs26" }, { "slug": "y311ffs27", "name": "Y311Ffs*27", "commonName": null, "symbol": "BRIP1", "classification": "pathogenic", "stars": 2, "hgvsC": "c.932del", "position": 61801460, "grch37Position": 59878821, "part": { "kind": "exon", "number": 8 }, "url": "https://dantelabs.com/genes/brip1/variants/y311ffs27" }, { "slug": "y313x", "name": "Y313X", "commonName": null, "symbol": "BRIP1", "classification": "pathogenic", "stars": 2, "hgvsC": "c.939T>G", "position": 61801454, "grch37Position": 59878815, "part": { "kind": "exon", "number": 8 }, "url": "https://dantelabs.com/genes/brip1/variants/y313x" }, { "slug": "y353ifs12", "name": "Y353Ifs*12", "commonName": null, "symbol": "BRIP1", "classification": "pathogenic", "stars": 2, "hgvsC": "c.1052_1055dup", "position": 61801337, "grch37Position": 59878698, "part": { "kind": "exon", "number": 8 }, "url": "https://dantelabs.com/genes/brip1/variants/y353ifs12" }, { "slug": "y353x", "name": "Y353X", "commonName": null, "symbol": "BRIP1", "classification": "pathogenic", "stars": 2, "hgvsC": "c.1058dup", "position": 61801334, "grch37Position": 59878695, "part": { "kind": "exon", "number": 8 }, "url": "https://dantelabs.com/genes/brip1/variants/y353x" }, { "slug": "y369x", "name": "Y369X", "commonName": null, "symbol": "BRIP1", "classification": "pathogenic", "stars": 2, "hgvsC": "c.1107C>G", "position": 61801286, "grch37Position": 59878647, "part": { "kind": "exon", "number": 8 }, "url": "https://dantelabs.com/genes/brip1/variants/y369x" }, { "slug": "y371tfs4", "name": "Y371Tfs*4", "commonName": null, "symbol": "BRIP1", "classification": "pathogenic-likely-pathogenic", "stars": 2, "hgvsC": "c.1109_1110dup", "position": 61801282, "grch37Position": 59878643, "part": { "kind": "exon", "number": 8 }, "url": "https://dantelabs.com/genes/brip1/variants/y371tfs4" }, { "slug": "y408lfs14", "name": "Y408Lfs*14", "commonName": null, "symbol": "BRIP1", "classification": "pathogenic", "stars": 2, "hgvsC": "c.1222dup", "position": 61799217, "grch37Position": 59876578, "part": { "kind": "exon", "number": 9 }, "url": "https://dantelabs.com/genes/brip1/variants/y408lfs14" }, { "slug": "y742x", "name": "Y742X", "commonName": null, "symbol": "BRIP1", "classification": "pathogenic", "stars": 2, "hgvsC": "c.2223_2225dup", "position": 61744463, "grch37Position": 59821824, "part": { "kind": "exon", "number": 15 }, "url": "https://dantelabs.com/genes/brip1/variants/y742x" }, { "slug": "y743x", "name": "Y743X", "commonName": null, "symbol": "BRIP1", "classification": "pathogenic", "stars": 2, "hgvsC": "c.2229T>G", "position": 61744460, "grch37Position": 59821821, "part": { "kind": "exon", "number": 15 }, "url": "https://dantelabs.com/genes/brip1/variants/y743x" }, { "slug": "y748x", "name": "Y748X", "commonName": null, "symbol": "BRIP1", "classification": "pathogenic-likely-pathogenic", "stars": 2, "hgvsC": "c.2244C>G", "position": 61744445, "grch37Position": 59821806, "part": { "kind": "exon", "number": 15 }, "url": "https://dantelabs.com/genes/brip1/variants/y748x" }, { "slug": "y800ifs2", "name": "Y800Ifs*2", "commonName": null, "symbol": "BRIP1", "classification": "pathogenic-likely-pathogenic", "stars": 2, "hgvsC": "c.2398_2400delinsATTTG", "position": 61716043, "grch37Position": 59793404, "part": { "kind": "exon", "number": 17 }, "url": "https://dantelabs.com/genes/brip1/variants/y800ifs2" }, { "slug": "y800x", "name": "Y800X", "commonName": null, "symbol": "BRIP1", "classification": "pathogenic", "stars": 2, "hgvsC": "c.2400C>G", "position": 61716043, "grch37Position": 59793404, "part": { "kind": "exon", "number": 17 }, "url": "https://dantelabs.com/genes/brip1/variants/y800x" }, { "slug": "y822lfs10", "name": "Y822Lfs*10", "commonName": null, "symbol": "BRIP1", "classification": "pathogenic-likely-pathogenic", "stars": 2, "hgvsC": "c.2464dup", "position": 61715978, "grch37Position": 59793339, "part": { "kind": "exon", "number": 17 }, "url": "https://dantelabs.com/genes/brip1/variants/y822lfs10" }, { "slug": "y921x", "name": "Y921X", "commonName": null, "symbol": "BRIP1", "classification": "pathogenic", "stars": 2, "hgvsC": "c.2763T>G", "position": 61685978, "grch37Position": 59763339, "part": { "kind": "exon", "number": 19 }, "url": "https://dantelabs.com/genes/brip1/variants/y921x" } ] } }