Variation_Name | GeneID | GeneSymbol | ClinicalSignificance | dbSNP | RCVaccession | TestedInGTR | PhenotypeIDs | Chromosome | Start | Stop | HGVS_c | HGVS_p | HGVS_g | OtherIDs | Disease_ClinVar | Disease_hgmd | NM_004700.3(KCNQ4):c.211_223delCAGCGCTCCTCGG (p.Gln71Profs) | 9132 | KCNQ4 | Pathogenic | 80358271 | RCV000006623; | N | MedGen:C2677637,OMIM:600101 | 1 | 41249976 | 41249988 | NM_004700.3:c.211_223delCAGCGCTCCTCGG | NP_004691.2:p.Gln71Profs | NC_000001.10:g.41249976_41249988delCAGCGCTCCTCGG | OMIM Allelic Variant:603537.0005 | C2677637 600101 DFNA 2 Nonsyndromic Hearing Loss | | |
NM_004700.3(KCNQ4):c.211delC (p.Gln71Serfs) | 9132 | KCNQ4 | Pathogenic | 80358272 | RCV000006626; | N | MedGen:C2677637,OMIM:600101 | 1 | 41249976 | 41249976 | NM_004700.3:c.211delC | NP_004691.2:p.Gln71Serfs | NC_000001.10:g.41249976delC | OMIM Allelic Variant:603537.0008 | C2677637 600101 DFNA 2 Nonsyndromic Hearing Loss | | |
NM_004700.3(KCNQ4):c.228_229dupGC (p.His77Argfs) | 9132 | KCNQ4 | Pathogenic | 748123571 | RCV000195229; | N | MedGen:C2677637,OMIM:600101 | 1 | 41249993 | 41249994 | NM_004700.3:c.228_229dupGC | NP_004691.2:p.His77Argfs | NC_000001.10:g.41249993_41249994dupGC | - | C2677637 600101 DFNA 2 Nonsyndromic Hearing Loss | | |
NM_004700.3(KCNQ4):c.546C>G (p.Phe182Leu) | 9132 | KCNQ4 | Pathogenic | 80358273 | RCV000020609; | N | MedGen:C2677637,OMIM:600101 | 1 | 41284190 | 41284190 | NM_004700.3:c.546C>G | NP_004691.2:p.Phe182Leu | NC_000001.10:g.41284190C>G | - | C2677637 600101 DFNA 2 Nonsyndromic Hearing Loss | | |
NM_004700.3(KCNQ4):c.648C>T (p.Arg216=) | 9132 | KCNQ4 | Benign | 80358269 | RCV000020610; | N | MedGen:C2677637,OMIM:600101 | 1 | 41284292 | 41284292 | NM_004700.3:c.648C>T | NP_004691.2:p.Arg216= | NC_000001.10:g.41284292C>T | - | C2677637 600101 DFNA 2 Nonsyndromic Hearing Loss | | |
NM_004700.3(KCNQ4):c.689T>A (p.Val230Glu) | 9132 | KCNQ4 | Pathogenic | 797044965 | RCV000193083; | N | MedGen:C2677637,OMIM:600101 | 1 | 41284333 | 41284333 | NM_004700.3:c.689T>A | NP_004691.2:p.Val230Glu | NC_000001.10:g.41284333T>A | - | C2677637 600101 DFNA 2 Nonsyndromic Hearing Loss | | |
NM_004700.3(KCNQ4):c.778G>A (p.Glu260Lys) | 9132 | KCNQ4 | Pathogenic | 80358274 | RCV000020611; | N | MedGen:C2677637,OMIM:600101 | 1 | 41285088 | 41285088 | NM_004700.3:c.778G>A | NP_004691.2:p.Glu260Lys | NC_000001.10:g.41285088G>A | - | C2677637 600101 DFNA 2 Nonsyndromic Hearing Loss | | |
NM_004700.3(KCNQ4):c.785A>T (p.Asp262Val) | 9132 | KCNQ4 | Pathogenic | 80358275 | RCV000020612; | N | MedGen:C2677637,OMIM:600101 | 1 | 41285095 | 41285095 | NM_004700.3:c.785A>T | NP_004691.2:p.Asp262Val | NC_000001.10:g.41285095A>T | - | C2677637 600101 DFNA 2 Nonsyndromic Hearing Loss | | |
NM_004700.3(KCNQ4):c.806_808delCCT (p.Ser269del) | 9132 | KCNQ4 | Pathogenic | 797044966 | RCV000194270; | N | MedGen:C2677637,OMIM:600101 | 1 | 41285116 | 41285118 | NM_004700.3:c.806_808delCCT | NP_004691.2:p.Ser269del | NC_000001.10:g.41285116_41285118delCCT | - | C2677637 600101 DFNA 2 Nonsyndromic Hearing Loss | | |
NM_004700.3(KCNQ4):c.808T>C (p.Tyr270His) | 9132 | KCNQ4 | Pathogenic | 797044967 | RCV000192488; | N | MedGen:C2677637,OMIM:600101 | 1 | 41285118 | 41285118 | NM_004700.3:c.808T>C | NP_004691.2:p.Tyr270His | NC_000001.10:g.41285118T>C | - | C2677637 600101 DFNA 2 Nonsyndromic Hearing Loss | | |
NM_004700.3(KCNQ4):c.821T>A (p.Leu274His) | 9132 | KCNQ4 | Pathogenic | 80358276 | RCV000006625; | N | MedGen:C2677637,OMIM:600101 | 1 | 41285131 | 41285131 | NM_004700.3:c.821T>A | NP_004691.2:p.Leu274His | NC_000001.10:g.41285131T>A | OMIM Allelic Variant:603537.0007 | C2677637 600101 DFNA 2 Nonsyndromic Hearing Loss | | |
NM_004700.3(KCNQ4):c.823T>C (p.Trp275Arg) | 9132 | KCNQ4 | Pathogenic | 797044968 | RCV000193712; | N | MedGen:C2677637,OMIM:600101 | 1 | 41285133 | 41285133 | NM_004700.3:c.823T>C | NP_004691.2:p.Trp275Arg | NC_000001.10:g.41285133T>C | - | C2677637 600101 DFNA 2 Nonsyndromic Hearing Loss | | |
NM_004700.3(KCNQ4):c.827G>C (p.Trp276Ser) | 9132 | KCNQ4 | Pathogenic | 80358277 | RCV000006620; RCV000211784; | N | MedGen:C2677637,OMIM:600101; MedGen:CN043648, Orphanet:ORPHA87884 | 1 | 41285137 | 41285137 | NM_004700.3:c.827G>C | NP_004691.2:p.Trp276Ser | NC_000001.10:g.41285137G>C | OMIM Allelic Variant:603537.0002 | C2677637 600101 DFNA 2 Nonsyndromic Hearing Loss; CN043648 Non-syndromic genetic deafness | | |
NM_004700.3(KCNQ4):c.842T>C (p.Leu281Ser) | 9132 | KCNQ4 | Pathogenic | 80358278 | RCV000006624; | N | MedGen:C2677637,OMIM:600101 | 1 | 41285554 | 41285554 | NM_004700.3:c.842T>C | NP_004691.2:p.Leu281Ser | NC_000001.10:g.41285554T>C | OMIM Allelic Variant:603537.0006 | C2677637 600101 DFNA 2 Nonsyndromic Hearing Loss | | |
NM_004700.3(KCNQ4):c.853G>A (p.Gly285Ser) | 9132 | KCNQ4 | Likely pathogenic;Pathogenic | 28937588 | RCV000006619; RCV000211722; | N | MedGen:C2677637,OMIM:600101; MedGen:CN043648, Orphanet:ORPHA87884 | 1 | 41285565 | 41285565 | NM_004700.3:c.853G>A | NP_004691.2:p.Gly285Ser | NC_000001.10:g.41285565G>A,NC_000001.10:g.41285565G>T | OMIM Allelic Variant:603537.0001 | C2677637 600101 DFNA 2 Nonsyndromic Hearing Loss; CN043648 Non-syndromic genetic deafness | | |
NM_004700.3(KCNQ4):c.853G>T (p.Gly285Cys) | 9132 | KCNQ4 | Pathogenic | 28937588 | RCV000006622; | N | MedGen:C2677637,OMIM:600101 | 1 | 41285565 | 41285565 | NM_004700.3:c.853G>T | NP_004691.2:p.Gly285Cys | NC_000001.10:g.41285565G>A,NC_000001.10:g.41285565G>T | OMIM Allelic Variant:603537.0004 | C2677637 600101 DFNA 2 Nonsyndromic Hearing Loss | | |
NM_004700.3(KCNQ4):c.871C>T (p.Pro291Ser) | 9132 | KCNQ4 | Pathogenic | 797044969 | RCV000194192; | N | MedGen:C2677637,OMIM:600101 | 1 | 41285583 | 41285583 | NM_004700.3:c.871C>T | NP_004691.2:p.Pro291Ser | NC_000001.10:g.41285583C>T | - | C2677637 600101 DFNA 2 Nonsyndromic Hearing Loss | | |
NM_004700.3(KCNQ4):c.872C>T (p.Pro291Leu) | 9132 | KCNQ4 | Pathogenic | 797044970 | RCV000192551; | N | MedGen:C2677637,OMIM:600101 | 1 | 41285584 | 41285584 | NM_004700.3:c.872C>T | NP_004691.2:p.Pro291Leu | NC_000001.10:g.41285584C>T | - | C2677637 600101 DFNA 2 Nonsyndromic Hearing Loss | | |
NM_004700.3(KCNQ4):c.886G>A (p.Gly296Ser) | 9132 | KCNQ4 | Pathogenic | 80358279 | RCV000006627; | N | MedGen:C2677637,OMIM:600101 | 1 | 41285598 | 41285598 | NM_004700.3:c.886G>A | NP_004691.2:p.Gly296Ser | NC_000001.10:g.41285598G>A | OMIM Allelic Variant:603537.0009 | C2677637 600101 DFNA 2 Nonsyndromic Hearing Loss | | |
NM_004700.3(KCNQ4):c.891G>T (p.Arg297Ser) | 9132 | KCNQ4 | Pathogenic | 797044971 | RCV000193774; | N | MedGen:C2677637,OMIM:600101 | 1 | 41285603 | 41285603 | NM_004700.3:c.891G>T | NP_004691.2:p.Arg297Ser | NC_000001.10:g.41285603G>T | - | C2677637 600101 DFNA 2 Nonsyndromic Hearing Loss | | |
NM_004700.3(KCNQ4):c.961G>A (p.Gly321Ser) | 9132 | KCNQ4 | Pathogenic | 28939710 | RCV000006621; | N | MedGen:C2677637,OMIM:600101 | 1 | 41285852 | 41285852 | NM_004700.3:c.961G>A | NP_004691.2:p.Gly321Ser | NC_000001.10:g.41285852G>A | OMIM Allelic Variant:603537.0003 | C2677637 600101 DFNA 2 Nonsyndromic Hearing Loss | | |
NM_004700.3(KCNQ4):c.1044_1051delTGCCTGGC (p.Ala349Profs) | 9132 | KCNQ4 | Pathogenic | 797044972 | RCV000194638; | N | MedGen:C2677637,OMIM:600101 | 1 | 41287988 | 41287995 | NM_004700.3:c.1044_1051delTGCCTGGC | NP_004691.2:p.Ala349Profs | NC_000001.10:g.41287988_41287995delTGCCTGGC | - | C2677637 600101 DFNA 2 Nonsyndromic Hearing Loss | | |
NM_004700.3(KCNQ4):c.1503C>T (p.Thr501=) | 9132 | KCNQ4 | Benign | 80358270 | RCV000020608; | N | MedGen:C2677637,OMIM:600101 | 1 | 41296966 | 41296966 | NM_004700.3:c.1503C>T | NP_004691.2:p.Thr501= | NC_000001.10:g.41296966C>T | - | C2677637 600101 DFNA 2 Nonsyndromic Hearing Loss | | |
NM_004700.3(KCNQ4):c.2039C>T (p.Ser680Phe) | 9132 | KCNQ4 | Pathogenic | 772135867 | RCV000192858; | N | MedGen:C2677637,OMIM:600101 | 1 | 41304146 | 41304146 | NM_004700.3:c.2039C>T | NP_004691.2:p.Ser680Phe | NC_000001.10:g.41304146C>T | - | C2677637 600101 DFNA 2 Nonsyndromic Hearing Loss | | |