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6751530, "strand": "+", "slug": "trip10" }, { "symbol": "SH2D3A", "ensemblId": "ENSG00000125731", "biotype": "protein_coding", "start": 6751899, "end": 6768109, "strand": "-", "slug": "sh2d3a" }, { "symbol": "VAV1", "ensemblId": "ENSG00000141968", "biotype": "protein_coding", "start": 6772676, "end": 6857366, "strand": "+", "slug": "vav1" } ], "truncated": false }, "reports": [ { "slug": "female-infertility", "name": "Infertilitet hos kvinder", "diseases": [ { "mondoId": "MONDO:0021124", "name": "Infertilitet hos kvinder", "genes": 37, "inheritance": null, "description": "Nedsat eller manglende evne hos en kvinde til at opnå graviditet.", "management": null, "evidence": { "gencc": [ "ClinGen", "G2P", "Labcorp Genetics (formerly Invitae)" ], "clingen": "Definitive", "acmgSf": false, "inheritance": [ "autosomal-recessive" ] }, "sameAsReport": true, "broad": false } ], "url": "https://dantelabs.com/da/conditions/female-infertility" } ], "pharmacogenomics": [], "traits": [], "phenotypes": [ { "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": "elevated-circulating-follicle-stimulating-hormone-level", "name": "Elevated circulating follicle stimulating hormone level", "systems": [ "abnormality-of-the-endocrine-system", "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/elevated-circulating-follicle-stimulating-hormone-level" }, { "slug": "elevated-circulating-luteinizing-hormone-level", "name": "Elevated circulating luteinizing hormone level", "systems": [ "abnormality-of-the-endocrine-system", "abnormality-of-the-nervous-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/elevated-circulating-luteinizing-hormone-level" }, { "slug": "seizure", "name": "Epilepsy", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/seizure" }, { "slug": "hypergonadotropic-hypogonadism", "name": "Hypergonadotropic hypogonadism", "systems": [ "abnormality-of-the-endocrine-system", "abnormality-of-the-genitourinary-system" ], "url": "https://dantelabs.com/traits/hypergonadotropic-hypogonadism" }, { "slug": "primary-amenorrhea", "name": "Primary amenorrhea", "systems": [ "abnormality-of-the-genitourinary-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/primary-amenorrhea" }, { "slug": "sensorineural-hearing-impairment", "name": "Sensorineural hearing impairment", "systems": [ "abnormality-of-the-ear" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/sensorineural-hearing-impairment" }, { "slug": "short-stature", "name": "Short stature", "systems": [ "growth-abnormality" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/short-stature" }, { "slug": "hypoplasia-of-the-uterus", "name": "Small uterus", "systems": [ "abnormality-of-the-genitourinary-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/hypoplasia-of-the-uterus" }, { "slug": "streak-ovary", "name": "Streak ovary", "systems": [ "abnormality-of-the-genitourinary-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/streak-ovary" } ], "related": [ { "slug": "ankrd31", "symbol": "ANKRD31", "name": "ankyrin repeat domain 31", "shared": 1, "url": "https://dantelabs.com/da/genes/ankrd31" }, { "slug": "atm", "symbol": "ATM", "name": "ATM serine/threonine kinase", "shared": 1, "url": "https://dantelabs.com/da/genes/atm" }, { "slug": "bmp15", "symbol": "BMP15", "name": "bone morphogenetic protein 15", "shared": 1, "url": "https://dantelabs.com/da/genes/bmp15" }, { "slug": "bnc1", "symbol": "BNC1", "name": "basonuclin zinc finger protein 1", "shared": 1, "url": "https://dantelabs.com/da/genes/bnc1" }, { "slug": "cyp19a1", "symbol": "CYP19A1", "name": "cytochrome P450 family 19 subfamily A member 1", "shared": 1, "url": "https://dantelabs.com/da/genes/cyp19a1" }, { "slug": "fancm", "symbol": "FANCM", "name": "FA complementation group M", "shared": 1, "url": "https://dantelabs.com/da/genes/fancm" }, { "slug": "figla", "symbol": "FIGLA", "name": "folliculogenesis specific bHLH transcription factor", "shared": 1, "url": "https://dantelabs.com/da/genes/figla" }, { "slug": "fmr1", "symbol": "FMR1", "name": "fragile X messenger ribonucleoprotein 1", "shared": 1, "url": "https://dantelabs.com/da/genes/fmr1" }, { "slug": "foxl2", "symbol": "FOXL2", "name": "forkhead box L2", "shared": 1, "url": "https://dantelabs.com/da/genes/foxl2" }, { "slug": "fshr", "symbol": "FSHR", "name": "follicle stimulating hormone receptor", "shared": 1, "url": "https://dantelabs.com/da/genes/fshr" }, { "slug": "galt", "symbol": "GALT", "name": "galactose-1-phosphate uridylyltransferase", "shared": 1, "url": "https://dantelabs.com/da/genes/galt" }, { "slug": "gdf9", "symbol": "GDF9", "name": "growth differentiation factor 9", "shared": 1, "url": "https://dantelabs.com/da/genes/gdf9" } ], "sources": { "bundleId": "2026.10.18-8b139e39", "panel": "2026-10-18", "acmgSf": "SF v3.2" }, "locusKind": "proteinCoding" }, "variants": { "total": 0, "url": null, "items": [] } }