Variation_Name | GeneID | GeneSymbol | ClinicalSignificance | dbSNP | RCVaccession | TestedInGTR | PhenotypeIDs | Chromosome | Start | Stop | HGVS_c | HGVS_p | HGVS_g | OtherIDs | Disease_ClinVar | Disease_hgmd | NM_001145809.1(MYH14):c.20C>A (p.Ser7Ter) | 79784 | MYH14 | Pathogenic | 119103279 | RCV000002280; | N | MedGen:C1833503,OMIM:600652 | 19 | 50713642 | 50713642 | NM_001145809.1:c.20C>A | NP_001139281.1:p.Ser7Ter | NC_000019.9:g.50713642C>A | OMIM Allelic Variant:608568.0001 | C1833503 600652 Deafness, autosomal dominant 4 | | |
NM_001145809.1(MYH14):c.359C>T (p.Ser120Leu) | 79784 | MYH14 | Pathogenic | 119103281 | RCV000002284; | N | MedGen:C1833503,OMIM:600652 | 19 | 50713981 | 50713981 | NM_001145809.1:c.359C>T | NP_001139281.1:p.Ser120Leu | NC_000019.9:g.50713981C>T | OMIM Allelic Variant:608568.0005 | C1833503 600652 Deafness, autosomal dominant 4 | | |
NM_001145809.1(MYH14):c.1150G>T (p.Gly384Cys) | 79784 | MYH14 | Likely benign;Pathogenic | 119103280 | RCV000002283; RCV000037022; | N | MedGen:C1833503,OMIM:600652; MedGen:CN169374 | 19 | 50747534 | 50747534 | NM_001145809.1:c.1150G>T | NP_001139281.1:p.Gly384Cys | NC_000019.9:g.50747534G>T | OMIM Allelic Variant:608568.0004 | C1833503 600652 Deafness, autosomal dominant 4; CN169374 not specified | | |
NM_001145809.1(MYH14):c.2299C>A (p.Arg767Ser) | 79784 | MYH14 | Pathogenic | 28940307 | RCV000002282; | N | MedGen:C1833503,OMIM:600652 | 19 | 50762467 | 50762467 | NM_001145809.1:c.2299C>A | NP_001139281.1:p.Arg767Ser | NC_000019.9:g.50762467C>A | OMIM Allelic Variant:608568.0003 | C1833503 600652 Deafness, autosomal dominant 4 | | |
NM_001145809.1(MYH14):c.3049C>T (p.Leu1017Phe) | 79784 | MYH14 | Pathogenic | 28940306 | RCV000002281; | N | MedGen:C1833503,OMIM:600652 | 19 | 50774681 | 50774681 | NM_001145809.1:c.3049C>T | NP_001139281.1:p.Leu1017Phe | NC_000019.9:g.50774681C>T | OMIM Allelic Variant:608568.0002 | C1833503 600652 Deafness, autosomal dominant 4 | | |
NM_001077186.1(MYH14):c.3369-3C>T | 79784 | MYH14 | Benign | 78192108 | RCV000144089; RCV000037042; | N | MedGen:C1833503,OMIM:600652; MedGen:CN169374 | 19 | 50779245 | 50779245 | NM_001077186.1:c.3369-3C>T | | NC_000019.9:g.50779245C>T | - | C1833503 600652 Deafness, autosomal dominant 4; CN169374 not specified | | |
NM_024729.3(MYH14):c.3506G>A (p.Arg1169Gln) | 79784 | MYH14 | Uncertain significance | 794729639 | RCV000185540; | N | MedGen:C1833503,OMIM:600652 | 19 | 50779409 | 50779409 | NM_024729.3:c.3506G>A | NP_079005.3:p.Arg1169Gln | NC_000019.9:g.50779409G>A | - | C1833503 600652 Deafness, autosomal dominant 4 | | |