{ "url": "https://dantelabs.com/no/genes/kcnh2", "gene": { "slug": "kcnh2", "symbol": "KCNH2", "name": "potassium voltage-gated channel subfamily H member 2", "hgnc": "HGNC:6251", "summary": null, "location": "7q36.1", "locusType": "gene with protein product", "aliases": [ "Kv11.1", "HERG", "erg1" ], "previousSymbols": [ "LQT2" ], "ensemblId": "ENSG00000055118", "entrezId": 3757, "omim": [ "152427" ], "uniprot": [ "Q12809" ], "model": { "build": "GRCh38", "release": "v1.5", "chrom": "7", "start": 150944961, "end": 150978321, "strand": "-", "ensemblTranscript": "ENST00000262186.10", "refseqTranscript": "NM_000238.4", "ensemblProtein": "ENSP00000262186.5", "refseqProtein": "NP_000229.1", "exons": [ { "start": 150944961, "end": 150945514 }, { "start": 150946877, "end": 150947054 }, { "start": 150947328, "end": 150947514 }, { "start": 150947606, "end": 150947878 }, { "start": 150948444, "end": 150948543 }, { "start": 150948856, "end": 150949049 }, { "start": 150950168, "end": 150950420 }, { "start": 150950921, "end": 150951120 }, { "start": 150951448, "end": 150951835 }, { "start": 150952425, "end": 150952853 }, { "start": 150957291, "end": 150957502 }, { "start": 150958059, "end": 150958502 }, { "start": 150959572, "end": 150959736 }, { "start": 150974711, "end": 150974941 }, { "start": 150977838, "end": 150978321 } ], "cds": { "start": 150945365, "end": 150977913 } }, "grch37": { "build": "GRCh37", "release": "87", "chrom": "7", "start": 150642049, "end": 150675403, "strand": "-" }, "neighbourhood": { "release": "116", "start": 150461641, "end": 151461640, "genes": [ { "symbol": "GIMAP8", "ensemblId": "ENSG00000171115", "biotype": "protein_coding", "start": 150450624, "end": 150479395, "strand": "+", "slug": "gimap8" }, { "symbol": "GIMAP7", "ensemblId": "ENSG00000179144", "biotype": "protein_coding", "start": 150514852, "end": 150521073, "strand": "+", "slug": "gimap7" }, { "symbol": "GIMAP4", "ensemblId": "ENSG00000133574", "biotype": "protein_coding", "start": 150567242, "end": 150574512, "strand": "+", "slug": "gimap4" }, { "symbol": "GIMAP6", "ensemblId": "ENSG00000133561", "biotype": "protein_coding", "start": 150625375, "end": 150632651, "strand": "-", "slug": "gimap6" }, { "symbol": "GIMAP2", "ensemblId": "ENSG00000106560", "biotype": "protein_coding", "start": 150685647, "end": 150694763, "strand": "+", "slug": "gimap2" }, { "symbol": "GIMAP1", "ensemblId": "ENSG00000213203", "biotype": "protein_coding", "start": 150716606, "end": 150724284, "strand": "+", "slug": "gimap1" }, { "symbol": "GIMAP1-GIMAP5", "ensemblId": "ENSG00000281887", "biotype": "protein_coding", "start": 150716668, "end": 150743646, "strand": "+", "slug": "gimap1-gimap5" }, { "symbol": "GIMAP5", "ensemblId": "ENSG00000196329", "biotype": "protein_coding", "start": 150722253, "end": 150750033, "strand": "+", "slug": "gimap5" }, { "symbol": "TMEM176B", "ensemblId": "ENSG00000106565", "biotype": "protein_coding", "start": 150789455, "end": 150823877, "strand": "-", "slug": "tmem176b" }, { "symbol": "TMEM176A", "ensemblId": "ENSG00000002933", "biotype": "protein_coding", "start": 150799598, "end": 150805122, "strand": "+", "slug": "tmem176a" }, { "symbol": "AOC1", "ensemblId": "ENSG00000002726", "biotype": "protein_coding", "start": 150824627, "end": 150872465, "strand": "+", "slug": "aoc1" }, { "symbol": "NOS3", "ensemblId": "ENSG00000164867", "biotype": "protein_coding", "start": 150991017, "end": 151015653, "strand": "+", "slug": "nos3" }, { "symbol": "ATG9B", "ensemblId": "ENSG00000181652", "biotype": "protein_coding", "start": 151012209, "end": 151024499, "strand": "-", "slug": "atg9b" }, { "symbol": "ABCB8", "ensemblId": "ENSG00000197150", "biotype": "protein_coding", "start": 151028422, "end": 151047782, "strand": "+", "slug": "abcb8" }, { "symbol": "ASIC3", "ensemblId": "ENSG00000213199", "biotype": "protein_coding", "start": 151048292, "end": 151052756, "strand": "+", "slug": "asic3" }, { "symbol": "CDK5", "ensemblId": "ENSG00000164885", "biotype": "protein_coding", "start": 151051517, "end": 151057952, "strand": "-", "slug": "cdk5" }, { "symbol": "SLC4A2", "ensemblId": "ENSG00000164889", "biotype": "protein_coding", "start": 151057210, "end": 151076527, "strand": "+", "slug": "slc4a2" }, { "symbol": "", "ensemblId": "ENSG00000288608", "biotype": "protein_coding", "start": 151061928, "end": 151061978, "strand": "+" }, { "symbol": "FASTK", "ensemblId": "ENSG00000164896", "biotype": "protein_coding", "start": 151076585, "end": 151080881, "strand": "-", "slug": "fastk" }, { "symbol": "TMUB1", "ensemblId": "ENSG00000164897", "biotype": "protein_coding", "start": 151081082, "end": 151083533, "strand": "-", "slug": "tmub1" }, { "symbol": "AGAP3", "ensemblId": "ENSG00000133612", "biotype": "protein_coding", "start": 151085831, "end": 151144450, "strand": "+", "slug": "agap3" }, { "symbol": "GBX1", "ensemblId": "ENSG00000164900", "biotype": "protein_coding", "start": 151147669, "end": 151174745, "strand": "-", "slug": "gbx1" }, { "symbol": "ASB10", "ensemblId": "ENSG00000146926", "biotype": "protein_coding", "start": 151175684, "end": 151187832, "strand": "-", "slug": "asb10" }, { "symbol": "DRC11L", "ensemblId": "ENSG00000278685", "biotype": "protein_coding", "start": 151190873, "end": 151205496, "strand": "-", "slug": "drc11l" }, { "symbol": "H2BK1", "ensemblId": "ENSG00000285480", "biotype": "protein_coding", "start": 151207416, "end": 151210488, "strand": "-", "slug": "h2bk1" }, { "symbol": "ABCF2-H2BK1", "ensemblId": "ENSG00000285292", "biotype": "protein_coding", "start": 151207837, "end": 151227166, "strand": "-", "slug": "abcf2-h2bk1" }, { "symbol": "ABCF2", "ensemblId": "ENSG00000033050", "biotype": "protein_coding", "start": 151211484, "end": 151227264, "strand": "-", "slug": "abcf2" }, { "symbol": "CHPF2", "ensemblId": "ENSG00000033100", "biotype": "protein_coding", "start": 151232483, "end": 151240979, "strand": "+", "slug": "chpf2" }, { "symbol": "SMARCD3", "ensemblId": "ENSG00000082014", "biotype": "protein_coding", "start": 151238764, "end": 151277896, "strand": "-", "slug": "smarcd3" }, { "symbol": "NUB1", "ensemblId": "ENSG00000013374", "biotype": "protein_coding", "start": 151341704, "end": 151381097, "strand": "+", "slug": "nub1" }, { "symbol": "WDR86", "ensemblId": "ENSG00000187260", "biotype": "protein_coding", "start": 151375909, "end": 151410727, "strand": "-", "slug": "wdr86" }, { "symbol": "CRYGN", "ensemblId": "ENSG00000127377", "biotype": "protein_coding", "start": 151428293, "end": 151440813, "strand": "-", "slug": "crygn" } ], "truncated": false }, "reports": [ { "slug": "long-qt-syndrome", "name": "Langt QT-syndrom", "diseases": [ { "mondoId": "MONDO:0002442", "name": "Langt QT-syndrom", "genes": 10, "inheritance": null, "description": "En forstyrrelse i hjertets repolarisering, preget av et forlenget QT-intervall og en risiko for farlige ventrikulære arytmier, som torsades de pointes.", "management": "Betablokkere, ICD-implantasjon, begrensning av fysisk aktivitet, genetisk veiledning", "evidence": { "gencc": [ "Ambry Genetics", "ClinGen", "G2P", "Labcorp Genetics (formerly Invitae)" ], "clingen": "Definitive", "acmgSf": true, "inheritance": [ "autosomal-dominant" ], "actionability": 11 }, "sameAsReport": true, "broad": false } ], "url": "https://dantelabs.com/no/conditions/long-qt-syndrome" }, { "slug": "short-qt-syndrome", "name": "Kort QT-syndrom", "diseases": [ { "mondoId": "MONDO:0000453", "name": "Kort QT-syndrom", "genes": 4, "inheritance": "autosomal-dominant", "description": "En genetisk sykdom i hjertets elektriske system, som består av en kombinasjon av tegn og symptomer: et kort QT-intervall på EKG (< 300 ms) som ikke endrer seg vesentlig med hjertefrekvensen, høye og spisse T-bølger, og et strukturelt normalt hjerte. Kort QT-syndrom synes å arves autosomalt dominant, og noen få berørte familier er identifisert", "management": null, "evidence": { "gencc": [ "ClinGen", "G2P", "Labcorp Genetics (formerly Invitae)" ], "clingen": "Definitive", "acmgSf": false, "inheritance": [ "autosomal-dominant" ] }, "sameAsReport": true, "broad": false } ], "url": "https://dantelabs.com/no/conditions/short-qt-syndrome" } ], "pharmacogenomics": [], "traits": [], "phenotypes": [ { "slug": "syncope", "name": "Fainting spell", "systems": [ "abnormality-of-the-cardiovascular-system", "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/syncope" }, { "slug": "cardiac-arrest", "name": "Heart stops beating", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/cardiac-arrest" }, { "slug": "atrioventricular-block", "name": "Interruption of electrical communication between upper and lower chambers of heart", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/atrioventricular-block" }, { "slug": "notched-t-wave", "name": "Notched T wave", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/notched-t-wave" }, { "slug": "palpitations", "name": "Palpitations", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/palpitations" }, { "slug": "paroxysmal-atrial-fibrillation", "name": "Paroxysmal atrial fibrillation", "systems": [ "abnormality-of-the-cardiovascular-system" ], "url": "https://dantelabs.com/traits/paroxysmal-atrial-fibrillation" }, { "slug": "prolonged-qt-interval", "name": "Prolonged QT interval", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/prolonged-qt-interval" }, { "slug": "prolonged-qtc-interval", "name": "Prolonged QTc interval", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/prolonged-qtc-interval" }, { "slug": "atrial-fibrillation", "name": "Quivering upper heart chambers resulting in irregular heartbeat", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/atrial-fibrillation" }, { "slug": "shortened-qt-interval", "name": "Shortened QT interval", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/shortened-qt-interval" }, { "slug": "bradycardia", "name": "Slow heartbeats", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/bradycardia" }, { "slug": "sudden-cardiac-death", "name": "Sudden cardiac death", "systems": [ "abnormality-of-the-cardiovascular-system", "constitutional-symptom" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/sudden-cardiac-death" }, { "slug": "torsade-de-pointes", "name": "Torsade de pointes", "systems": [ "abnormality-of-the-cardiovascular-system" ], "url": "https://dantelabs.com/traits/torsade-de-pointes" }, { "slug": "ventricular-arrhythmia", "name": "Ventricular arrhythmia", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/ventricular-arrhythmia" }, { "slug": "ventricular-fibrillation", "name": "Ventricular fibrillation", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/ventricular-fibrillation" } ], "related": [ { "slug": "kcnj2", "symbol": "KCNJ2", "name": "potassium inwardly rectifying channel subfamily J member 2", "shared": 2, "url": "https://dantelabs.com/no/genes/kcnj2" }, { "slug": "kcnq1", "symbol": "KCNQ1", "name": "potassium voltage-gated channel subfamily Q member 1", "shared": 2, "url": "https://dantelabs.com/no/genes/kcnq1" }, { "slug": "cacna1c", "symbol": "CACNA1C", "name": "calcium voltage-gated channel subunit alpha1 C", "shared": 1, "url": "https://dantelabs.com/no/genes/cacna1c" }, { "slug": "calm1", "symbol": "CALM1", "name": "calmodulin 1", "shared": 1, "url": "https://dantelabs.com/no/genes/calm1" }, { "slug": "calm2", "symbol": "CALM2", "name": "calmodulin 2", "shared": 1, "url": "https://dantelabs.com/no/genes/calm2" }, { "slug": "calm3", "symbol": "CALM3", "name": "calmodulin 3", "shared": 1, "url": "https://dantelabs.com/no/genes/calm3" }, { "slug": "kcne1", "symbol": "KCNE1", "name": "potassium voltage-gated channel subfamily E regulatory subunit 1", "shared": 1, "url": "https://dantelabs.com/no/genes/kcne1" }, { "slug": "scn5a", "symbol": "SCN5A", "name": "sodium voltage-gated channel alpha subunit 5", "shared": 1, "url": "https://dantelabs.com/no/genes/scn5a" }, { "slug": "slc4a3", "symbol": "SLC4A3", "name": "solute carrier family 4 member 3", "shared": 1, "url": "https://dantelabs.com/no/genes/slc4a3" }, { "slug": "trdn", "symbol": "TRDN", "name": "triadin", "shared": 1, "url": "https://dantelabs.com/no/genes/trdn" } ], "sources": { "bundleId": "2026.10.17-8666dff2", "panel": "2026-10-17", "acmgSf": "SF v3.2" }, "locusKind": "proteinCoding" }, "variants": { "total": 54, "url": "https://dantelabs.com/genes/kcnh2/variants", "items": [ { "slug": "a490t", "name": "A490T", "commonName": null, "symbol": "KCNH2", "classification": "pathogenic-likely-pathogenic", "stars": 2, "hgvsC": "c.1468G>A", "position": 150952514, "grch37Position": 150649602, "part": { "kind": "exon", "number": 6 }, "url": "https://dantelabs.com/genes/kcnh2/variants/a490t" }, { "slug": "a614v", "name": "A614V", "commonName": null, "symbol": "KCNH2", "classification": "pathogenic", "stars": 2, "hgvsC": "c.1841C>T", "position": 150951552, "grch37Position": 150648640, "part": { "kind": "exon", "number": 7 }, "url": "https://dantelabs.com/genes/kcnh2/variants/a614v" }, { "slug": "a715gfs7", "name": "A715Gfs*7", "commonName": null, "symbol": "KCNH2", "classification": "pathogenic", "stars": 2, "hgvsC": "c.2144_2145del", "position": 150950920, "grch37Position": 150648008, "part": { "kind": "intron", "number": 8 }, "url": "https://dantelabs.com/genes/kcnh2/variants/a715gfs7" }, { "slug": "c-1128g-a", "name": "c.1128G>A", "commonName": null, "symbol": "KCNH2", "classification": "pathogenic-likely-pathogenic", "stars": 2, "hgvsC": null, "position": 150957291, "grch37Position": 150654379, "part": { "kind": "exon", "number": 5 }, "url": "https://dantelabs.com/genes/kcnh2/variants/c-1128g-a" }, { "slug": "c-2398plus5g-t", "name": "c.2398+5G>T", "commonName": null, "symbol": "KCNH2", "classification": "pathogenic-likely-pathogenic", "stars": 2, "hgvsC": null, "position": 150950163, "grch37Position": 150647251, "part": { "kind": "intron", "number": 9 }, "url": "https://dantelabs.com/genes/kcnh2/variants/c-2398plus5g-t" }, { "slug": "c-2966-2a-g", "name": "c.2966-2A>G", "commonName": null, "symbol": "KCNH2", "classification": "likely-pathogenic", "stars": 2, "hgvsC": null, "position": 150947516, "grch37Position": 150644604, "part": { "kind": "intron", "number": 12 }, "url": "https://dantelabs.com/genes/kcnh2/variants/c-2966-2a-g" }, { "slug": "d509n", "name": "D509N", "commonName": null, "symbol": "KCNH2", "classification": "likely-pathogenic", "stars": 2, "hgvsC": "c.1525G>A", "position": 150952457, "grch37Position": 150649545, "part": { "kind": "exon", "number": 6 }, "url": "https://dantelabs.com/genes/kcnh2/variants/d509n" }, { "slug": "d837g", "name": "D837G", "commonName": null, "symbol": "KCNH2", "classification": "pathogenic-likely-pathogenic", "stars": 2, "hgvsC": "c.2510A>G", "position": 150948938, "grch37Position": 150646026, "part": { "kind": "exon", "number": 10 }, "url": "https://dantelabs.com/genes/kcnh2/variants/d837g" }, { "slug": "e23x", "name": "E23X", "commonName": null, "symbol": "KCNH2", "classification": "pathogenic-likely-pathogenic", "stars": 2, "hgvsC": "c.66dup", "position": 150977847, "grch37Position": 150674935, "part": { "kind": "exon", "number": 1 }, "url": "https://dantelabs.com/genes/kcnh2/variants/e23x" }, { "slug": "e58k", "name": "E58K", "commonName": null, "symbol": "KCNH2", "classification": "pathogenic-likely-pathogenic", "stars": 2, "hgvsC": "c.172G>A", "position": 150974846, "grch37Position": 150671934, "part": { "kind": "exon", "number": 2 }, "url": "https://dantelabs.com/genes/kcnh2/variants/e58k" }, { "slug": "e544rfs111", "name": "E544Rfs*111", "commonName": null, "symbol": "KCNH2", "classification": "pathogenic", "stars": 2, "hgvsC": "c.1629dup", "position": 150951763, "grch37Position": 150648851, "part": { "kind": "exon", "number": 7 }, "url": "https://dantelabs.com/genes/kcnh2/variants/e544rfs111" }, { "slug": "f29l", "name": "F29L", "commonName": null, "symbol": "KCNH2", "classification": "pathogenic", "stars": 2, "hgvsC": "c.87C>A", "position": 150974931, "grch37Position": 150672019, "part": { "kind": "exon", "number": 2 }, "url": "https://dantelabs.com/genes/kcnh2/variants/f29l" }, { "slug": "g572s", "name": "G572S", "commonName": null, "symbol": "KCNH2", "classification": "pathogenic", "stars": 2, "hgvsC": "c.1714G>A", "position": 150951679, "grch37Position": 150648767, "part": { "kind": "exon", "number": 7 }, "url": "https://dantelabs.com/genes/kcnh2/variants/g572s" }, { "slug": "g584s", "name": "G584S", "commonName": null, "symbol": "KCNH2", "classification": "pathogenic-likely-pathogenic", "stars": 2, "hgvsC": "c.1750G>A", "position": 150951643, "grch37Position": 150648731, "part": { "kind": "exon", "number": 7 }, "url": "https://dantelabs.com/genes/kcnh2/variants/g584s" }, { "slug": "g604s", "name": "G604S", "commonName": null, "symbol": "KCNH2", "classification": "pathogenic", "stars": 2, "hgvsC": "c.1810G>A", "position": 150951583, "grch37Position": 150648671, "part": { "kind": "exon", "number": 7 }, "url": "https://dantelabs.com/genes/kcnh2/variants/g604s" }, { "slug": "g626s", "name": "G626S", "commonName": null, "symbol": "KCNH2", "classification": "pathogenic-likely-pathogenic", "stars": 2, "hgvsC": "c.1876G>A", "position": 150951517, "grch37Position": 150648605, "part": { "kind": "exon", "number": 7 }, "url": "https://dantelabs.com/genes/kcnh2/variants/g626s" }, { "slug": "g628s", "name": "G628S", "commonName": null, "symbol": "KCNH2", "classification": "pathogenic", "stars": 2, "hgvsC": "c.1882G>A", "position": 150951511, "grch37Position": 150648599, "part": { "kind": "exon", "number": 7 }, "url": "https://dantelabs.com/genes/kcnh2/variants/g628s" }, { "slug": "g1006afs51", "name": "G1006Afs*51", "commonName": null, "symbol": "KCNH2", "classification": "pathogenic", "stars": 2, "hgvsC": "c.3017del", "position": 150947462, "grch37Position": 150644550, "part": { "kind": "exon", "number": 13 }, "url": "https://dantelabs.com/genes/kcnh2/variants/g1006afs51" }, { "slug": "h492y", "name": "H492Y", "commonName": null, "symbol": "KCNH2", "classification": "likely-pathogenic", "stars": 2, "hgvsC": "c.1474C>T", "position": 150952508, "grch37Position": 150649596, "part": { "kind": "exon", "number": 6 }, "url": "https://dantelabs.com/genes/kcnh2/variants/h492y" }, { "slug": "h562r", "name": "H562R", "commonName": null, "symbol": "KCNH2", "classification": "pathogenic", "stars": 2, "hgvsC": "c.1685A>G", "position": 150951708, "grch37Position": 150648796, "part": { "kind": "exon", "number": 7 }, "url": "https://dantelabs.com/genes/kcnh2/variants/h562r" }, { "slug": "l380rfs54", "name": "L380Rfs*54", "commonName": null, "symbol": "KCNH2", "classification": "pathogenic", "stars": 2, "hgvsC": "c.1139del", "position": 150952842, "grch37Position": 150649930, "part": { "kind": "exon", "number": 6 }, "url": "https://dantelabs.com/genes/kcnh2/variants/l380rfs54" }, { "slug": "l552s", "name": "L552S", "commonName": null, "symbol": "KCNH2", "classification": "pathogenic", "stars": 2, "hgvsC": "c.1655T>C", "position": 150951738, "grch37Position": 150648826, "part": { "kind": "exon", "number": 7 }, "url": "https://dantelabs.com/genes/kcnh2/variants/l552s" }, { "slug": "l987vfs131", "name": "L987Vfs*131", "commonName": null, "symbol": "KCNH2", "classification": "pathogenic", "stars": 2, "hgvsC": "c.2959_2960del", "position": 150947610, "grch37Position": 150644698, "part": { "kind": "exon", "number": 12 }, "url": "https://dantelabs.com/genes/kcnh2/variants/l987vfs131" }, { "slug": "m756v", "name": "M756V", "commonName": null, "symbol": "KCNH2", "classification": "pathogenic-likely-pathogenic", "stars": 2, "hgvsC": "c.2266A>G", "position": 150950300, "grch37Position": 150647388, "part": { "kind": "exon", "number": 9 }, "url": "https://dantelabs.com/genes/kcnh2/variants/m756v" }, { "slug": "n33t", "name": "N33T", "commonName": null, "symbol": "KCNH2", "classification": "likely-pathogenic", "stars": 2, "hgvsC": "c.98A>C", "position": 150974920, "grch37Position": 150672008, "part": { "kind": "exon", "number": 2 }, "url": "https://dantelabs.com/genes/kcnh2/variants/n33t" }, { "slug": "n629s", "name": "N629S", "commonName": null, "symbol": "KCNH2", "classification": "pathogenic", "stars": 2, "hgvsC": "c.1886A>G", "position": 150951507, "grch37Position": 150648595, "part": { "kind": "exon", "number": 7 }, "url": "https://dantelabs.com/genes/kcnh2/variants/n629s" }, { "slug": "n996i", "name": "N996I", "commonName": null, "symbol": "KCNH2", "classification": "pathogenic-likely-pathogenic", "stars": 2, "hgvsC": "c.2987A>T", "position": 150947493, "grch37Position": 150644581, "part": { "kind": "exon", "number": 13 }, "url": "https://dantelabs.com/genes/kcnh2/variants/n996i" }, { "slug": "p605l", "name": "P605L", "commonName": null, "symbol": "KCNH2", "classification": "pathogenic-likely-pathogenic", "stars": 2, "hgvsC": "c.1814C>T", "position": 150951579, "grch37Position": 150648667, "part": { "kind": "exon", "number": 7 }, "url": "https://dantelabs.com/genes/kcnh2/variants/p605l" }, { "slug": "p721l", "name": "P721L", "commonName": null, "symbol": "KCNH2", "classification": "likely-pathogenic", "stars": 2, "hgvsC": "c.2162C>T", "position": 150950404, "grch37Position": 150647492, "part": { "kind": "exon", "number": 9 }, "url": "https://dantelabs.com/genes/kcnh2/variants/p721l" }, { "slug": "p926afs14", "name": "P926Afs*14", "commonName": null, "symbol": "KCNH2", "classification": "pathogenic", "stars": 2, "hgvsC": "c.2775dup", "position": 150947795, "grch37Position": 150644883, "part": { "kind": "exon", "number": 12 }, "url": "https://dantelabs.com/genes/kcnh2/variants/p926afs14" }, { "slug": "p926rfs48", "name": "P926Rfs*48", "commonName": null, "symbol": "KCNH2", "classification": "pathogenic", "stars": 2, "hgvsC": "c.2775del", "position": 150947795, "grch37Position": 150644883, "part": { "kind": "exon", "number": 12 }, "url": "https://dantelabs.com/genes/kcnh2/variants/p926rfs48" }, { "slug": "q450x", "name": "Q450X", "commonName": null, "symbol": "KCNH2", "classification": "pathogenic", "stars": 2, "hgvsC": "c.1348C>T", "position": 150952634, "grch37Position": 150649722, "part": { "kind": "exon", "number": 6 }, "url": "https://dantelabs.com/genes/kcnh2/variants/q450x" }, { "slug": "q664x", "name": "Q664X", "commonName": null, "symbol": "KCNH2", "classification": "pathogenic", "stars": 2, "hgvsC": "c.1990C>T", "position": 150951076, "grch37Position": 150648164, "part": { "kind": "exon", "number": 8 }, "url": "https://dantelabs.com/genes/kcnh2/variants/q664x" }, { "slug": "q702x", "name": "Q702X", "commonName": null, "symbol": "KCNH2", "classification": "pathogenic", "stars": 2, "hgvsC": "c.2104C>T", "position": 150950962, "grch37Position": 150648050, "part": { "kind": "exon", "number": 8 }, "url": "https://dantelabs.com/genes/kcnh2/variants/q702x" }, { "slug": "r273x", "name": "R273X", "commonName": null, "symbol": "KCNH2", "classification": "pathogenic", "stars": 2, "hgvsC": "c.817C>T", "position": 150958158, "grch37Position": 150655246, "part": { "kind": "exon", "number": 4 }, "url": "https://dantelabs.com/genes/kcnh2/variants/r273x" }, { "slug": "r366x", "name": "R366X", "commonName": null, "symbol": "KCNH2", "classification": "pathogenic", "stars": 2, "hgvsC": "c.1096C>T", "position": 150957323, "grch37Position": 150654411, "part": { "kind": "exon", "number": 5 }, "url": "https://dantelabs.com/genes/kcnh2/variants/r366x" }, { "slug": "r531w", "name": "R531W", "commonName": null, "symbol": "KCNH2", "classification": "pathogenic-likely-pathogenic", "stars": 2, "hgvsC": "c.1591C>T", "position": 150951802, "grch37Position": 150648890, "part": { "kind": "exon", "number": 7 }, "url": "https://dantelabs.com/genes/kcnh2/variants/r531w" }, { "slug": "r744x", "name": "R744X", "commonName": null, "symbol": "KCNH2", "classification": "pathogenic", "stars": 2, "hgvsC": "c.2230C>T", "position": 150950336, "grch37Position": 150647424, "part": { "kind": "exon", "number": 9 }, "url": "https://dantelabs.com/genes/kcnh2/variants/r744x" }, { "slug": "r752w", "name": "R752W", "commonName": null, "symbol": "KCNH2", "classification": "pathogenic", "stars": 2, "hgvsC": "c.2254C>T", "position": 150950312, "grch37Position": 150647400, "part": { "kind": "exon", "number": 9 }, "url": "https://dantelabs.com/genes/kcnh2/variants/r752w" }, { "slug": "r823w", "name": "R823W", "commonName": null, "symbol": "KCNH2", "classification": "pathogenic", "stars": 2, "hgvsC": "c.2467C>T", "position": 150948981, "grch37Position": 150646069, "part": { "kind": "exon", "number": 10 }, "url": "https://dantelabs.com/genes/kcnh2/variants/r823w" }, { "slug": "r863x", "name": "R863X", "commonName": null, "symbol": "KCNH2", "classification": "pathogenic", "stars": 2, "hgvsC": "c.2587C>T", "position": 150948861, "grch37Position": 150645949, "part": { "kind": "exon", "number": 10 }, "url": "https://dantelabs.com/genes/kcnh2/variants/r863x" }, { "slug": "r1014x", "name": "R1014X", "commonName": null, "symbol": "KCNH2", "classification": "pathogenic", "stars": 2, "hgvsC": "c.3040C>T", "position": 150947440, "grch37Position": 150644528, "part": { "kind": "exon", "number": 13 }, "url": "https://dantelabs.com/genes/kcnh2/variants/r1014x" }, { "slug": "r1033pfs23", "name": "R1033Pfs*23", "commonName": null, "symbol": "KCNH2", "classification": "pathogenic", "stars": 2, "hgvsC": "c.3096_3099del", "position": 150947380, "grch37Position": 150644468, "part": { "kind": "exon", "number": 13 }, "url": "https://dantelabs.com/genes/kcnh2/variants/r1033pfs23" }, { "slug": "r1033vfs26", "name": "R1033Vfs*26", "commonName": null, "symbol": "KCNH2", "classification": "pathogenic", "stars": 2, "hgvsC": "c.3092_3096dup", "position": 150947383, "grch37Position": 150644471, "part": { "kind": "exon", "number": 13 }, "url": "https://dantelabs.com/genes/kcnh2/variants/r1033vfs26" }, { "slug": "s428l", "name": "S428L", "commonName": null, "symbol": "KCNH2", "classification": "pathogenic-likely-pathogenic", "stars": 2, "hgvsC": "c.1283C>T", "position": 150952699, "grch37Position": 150649787, "part": { "kind": "exon", "number": 6 }, "url": "https://dantelabs.com/genes/kcnh2/variants/s428l" }, { "slug": "s660l", "name": "S660L", "commonName": null, "symbol": "KCNH2", "classification": "likely-pathogenic", "stars": 2, "hgvsC": "c.1979C>T", "position": 150951087, "grch37Position": 150648175, "part": { "kind": "exon", "number": 8 }, "url": "https://dantelabs.com/genes/kcnh2/variants/s660l" }, { "slug": "s818l", "name": "S818L", "commonName": null, "symbol": "KCNH2", "classification": "pathogenic", "stars": 2, "hgvsC": "c.2453C>T", "position": 150948995, "grch37Position": 150646083, "part": { "kind": "exon", "number": 10 }, "url": "https://dantelabs.com/genes/kcnh2/variants/s818l" }, { "slug": "s906l", "name": "S906L", "commonName": null, "symbol": "KCNH2", "classification": "pathogenic-likely-pathogenic", "stars": 2, "hgvsC": "c.2717C>T", "position": 150947854, "grch37Position": 150644942, "part": { "kind": "exon", "number": 12 }, "url": "https://dantelabs.com/genes/kcnh2/variants/s906l" }, { "slug": "t74rfs32", "name": "T74Rfs*32", "commonName": null, "symbol": "KCNH2", "classification": "pathogenic", "stars": 2, "hgvsC": "c.221_251del", "position": 150974766, "grch37Position": 150671854, "part": { "kind": "exon", "number": 2 }, "url": "https://dantelabs.com/genes/kcnh2/variants/t74rfs32" }, { "slug": "t421m", "name": "T421M", "commonName": null, "symbol": "KCNH2", "classification": "likely-pathogenic", "stars": 2, "hgvsC": "c.1262C>T", "position": 150952720, "grch37Position": 150649808, "part": { "kind": "exon", "number": 6 }, "url": "https://dantelabs.com/genes/kcnh2/variants/t421m" }, { "slug": "t623i", "name": "T623I", "commonName": null, "symbol": "KCNH2", "classification": "pathogenic", "stars": 2, "hgvsC": "c.1868C>T", "position": 150951525, "grch37Position": 150648613, "part": { "kind": "exon", "number": 7 }, "url": "https://dantelabs.com/genes/kcnh2/variants/t623i" }, { "slug": "v822m", "name": "V822M", "commonName": null, "symbol": "KCNH2", "classification": "pathogenic", "stars": 2, "hgvsC": "c.2464G>A", "position": 150948984, "grch37Position": 150646072, "part": { "kind": "exon", "number": 10 }, "url": "https://dantelabs.com/genes/kcnh2/variants/v822m" }, { "slug": "w927x", "name": "W927X", "commonName": null, "symbol": "KCNH2", "classification": "pathogenic", "stars": 2, "hgvsC": "c.2780G>A", "position": 150947791, "grch37Position": 150644879, "part": { "kind": "exon", "number": 12 }, "url": "https://dantelabs.com/genes/kcnh2/variants/w927x" }, { "slug": "w1001x", "name": "W1001X", "commonName": null, "symbol": "KCNH2", "classification": "pathogenic", "stars": 2, "hgvsC": "c.3002G>A", "position": 150947478, "grch37Position": 150644566, "part": { "kind": "exon", "number": 13 }, "url": "https://dantelabs.com/genes/kcnh2/variants/w1001x" } ] } }