Variation_Name | GeneID | GeneSymbol | ClinicalSignificance | dbSNP | RCVaccession | TestedInGTR | PhenotypeIDs | Chromosome | Start | Stop | HGVS_c | HGVS_p | HGVS_g | OtherIDs | Disease_ClinVar | Disease_hgmd | NM_005379.3(MYO1A):c.2728T>C (p.Ser910Pro) | 4640 | MYO1A | Uncertain significance | 121909306 | RCV000008628; | N | MedGen:C1842939,OMIM:607841 | 12 | 57423368 | 57423368 | NM_005379.3:c.2728T>C | NP_005370.1:p.Ser910Pro | NC_000012.11:g.57423368A>G | OMIM Allelic Variant:601478.0006 | C1842939 607841 Deafness, autosomal dominant 48 | | |
NM_005379.3(MYO1A):c.2021G>A (p.Gly674Asp) | 4640 | MYO1A | Likely benign | 148808080 | RCV000211623; | N | MedGen:C1842939,OMIM:607841 | 12 | 57431366 | 57431366 | NM_005379.3:c.2021G>A | NP_005370.1:p.Gly674Asp | NC_000012.11:g.57431366C>T | - | C1842939 607841 Deafness, autosomal dominant 48 | | |
NM_005379.3(MYO1A):c.1985G>A (p.Gly662Glu) | 4640 | MYO1A | Benign;Uncertain significance | 33962952 | RCV000008627; RCV000038471; | N | MedGen:C1842939,OMIM:607841; MedGen:CN169374 | 12 | 57431402 | 57431402 | NM_005379.3:c.1985G>A | NP_005370.1:p.Gly662Glu | NC_000012.11:g.57431402C>T | OMIM Allelic Variant:601478.0005 | C1842939 607841 Deafness, autosomal dominant 48; CN169374 not specified | | |
NM_005379.3(MYO1A):c.1882C>G (p.Arg628Gly) | 4640 | MYO1A | Likely benign | 151187460 | RCV000211654; RCV000151442; | N | MedGen:C1842939,OMIM:607841; MedGen:CN169374 | 12 | 57431732 | 57431732 | NM_005379.3:c.1882C>G | NP_005370.1:p.Arg628Gly | NC_000012.11:g.57431732G>C | - | C1842939 607841 Deafness, autosomal dominant 48; CN169374 not specified | | |
NM_005379.3(MYO1A):c.1155G>T (p.Glu385Asp) | 4640 | MYO1A | Uncertain significance | 61753849 | RCV000008626; | N | MedGen:C1842939,OMIM:607841 | 12 | 57435225 | 57435225 | NM_005379.3:c.1155G>T | NP_005370.1:p.Glu385Asp | NC_000012.11:g.57435225C>A | OMIM Allelic Variant:601478.0004 | C1842939 607841 Deafness, autosomal dominant 48 | | |
NG_012104.1:g.11872T>G | 4640 | MYO1A | Likely benign | -1 | RCV000211571; | N | MedGen:C1842939,OMIM:607841 | 12 | 57437022 | 57437022 | NM_005379.3:c.1011+2T>G | | | - | C1842939 607841 Deafness, autosomal dominant 48 | | |
NM_005379.3(MYO1A):c.916G>A (p.Val306Met) | 4640 | MYO1A | Benign;Likely benign;Uncertain significance | 55679042 | RCV000008625; RCV000038478; | N | MedGen:C1842939,OMIM:607841; MedGen:CN169374 | 12 | 57437119 | 57437119 | NM_005379.3:c.916G>A | NP_005370.1:p.Val306Met | NC_000012.11:g.57437119C>T | OMIM Allelic Variant:601478.0003 | C1842939 607841 Deafness, autosomal dominant 48; CN169374 not specified | | |
NG_012104.1:g.8559G>C | 4640 | MYO1A | Likely benign | 199924915 | RCV000211600; | N | MedGen:C1842939,OMIM:607841 | 12 | 57440335 | 57440335 | NM_005379.3:c.640+1G>C | | NC_000012.11:g.57440335C>G | - | C1842939 607841 Deafness, autosomal dominant 48 | | |
NM_005379.3(MYO1A):c.347_349dupCTT (p.Ser116_Tyr117insSer) | 4640 | MYO1A | Uncertain significance | 864309476 | RCV000008624; | N | MedGen:C1842939,OMIM:607841 | 12 | 57441168 | 57441170 | NM_005379.3:c.347_349dupCTT | NP_005370.1:p.Ser116_Tyr117insSer | NC_000012.11:g.57441168_57441170dupAAG | OMIM Allelic Variant:601478.0002 | C1842939 607841 Deafness, autosomal dominant 48 | | |
NM_005379.3(MYO1A):c.277C>T (p.Arg93Ter) | 4640 | MYO1A | Likely benign;Uncertain significance | 121909305 | RCV000008623; RCV000151452; | N | MedGen:C1842939,OMIM:607841; MedGen:CN169374 | 12 | 57441459 | 57441459 | NM_005379.3:c.277C>T | NP_005370.1:p.Arg93Ter | NC_000012.11:g.57441459G>A | OMIM Allelic Variant:601478.0001 | C1842939 607841 Deafness, autosomal dominant 48; CN169374 not specified | | |
NM_005379.3(MYO1A):c.235G>T (p.Ala79Ser) | 4640 | MYO1A | Likely benign | 147101055 | RCV000211694; | N | MedGen:C1842939,OMIM:607841 | 12 | 57441501 | 57441501 | NM_005379.3:c.235G>T | NP_005370.1:p.Ala79Ser | NC_000012.11:g.57441501C>A | - | C1842939 607841 Deafness, autosomal dominant 48 | | |