NM_016239.4(MYO15A):c.7184_7185del (p.Leu2394_Phe2395insTer) |
deletion |
Rare genetic deafness [RCV000612551]|not provided [RCV000523460] |
Chr17:18149551..18149552 [GRCh38] Chr17:18052865..18052866 [GRCh37] Chr17:17p11.2 |
pathogenic |
NM_016239.4(MYO15A):c.3130_3147dup (p.Ile1044_Asp1049dup) |
duplication |
not provided [RCV001534812]|not specified [RCV000519816] |
Chr17:18121912..18121913 [GRCh38] Chr17:18025226..18025227 [GRCh37] Chr17:17p11.2 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_016239.4(MYO15A):c.3844C>T (p.Arg1282Trp) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 3 [RCV001128473]|not provided [RCV000521316] |
Chr17:18126434 [GRCh38] Chr17:18029748 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.8341G>C (p.Gly2781Arg) |
single nucleotide variant |
not provided [RCV000521663] |
Chr17:18155314 [GRCh38] Chr17:18058628 [GRCh37] Chr17:17p11.2 |
likely pathogenic |
NM_016239.4(MYO15A):c.2456C>A (p.Ser819Ter) |
single nucleotide variant |
Hearing loss, autosomal recessive [RCV001291106]|not provided [RCV001732113] |
Chr17:18121256 [GRCh38] Chr17:18024570 [GRCh37] Chr17:17p11.2 |
pathogenic|likely pathogenic |
NM_016239.4(MYO15A):c.6337A>T (p.Ile2113Phe) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 3 [RCV000007365]|Nonsyndromic genetic hearing loss [RCV002228014] |
Chr17:18145935 [GRCh38] Chr17:18049249 [GRCh37] Chr17:17p11.2 |
pathogenic|likely pathogenic |
NM_016239.4(MYO15A):c.6331A>T (p.Asn2111Tyr) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 3 [RCV000007366] |
Chr17:18145929 [GRCh38] Chr17:18049243 [GRCh37] Chr17:17p11.2 |
pathogenic |
NM_016239.4(MYO15A):c.7801A>T (p.Lys2601Ter) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 3 [RCV000007367] |
Chr17:18151859 [GRCh38] Chr17:18055173 [GRCh37] Chr17:17p11.2 |
pathogenic |
NM_016239.4(MYO15A):c.3685C>T (p.Gln1229Ter) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 3 [RCV000007368] |
Chr17:18124558 [GRCh38] Chr17:18027872 [GRCh37] Chr17:17p11.2 |
pathogenic |
NM_016239.4(MYO15A):c.3756+1G>T |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 3 [RCV000007369] |
Chr17:18125232 [GRCh38] Chr17:18028546 [GRCh37] Chr17:17p11.2 |
pathogenic |
NM_016239.4(MYO15A):c.8148G>T (p.Gln2716His) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 3 [RCV000007370] |
Chr17:18154190 [GRCh38] Chr17:18057504 [GRCh37] Chr17:17p11.2 |
pathogenic |
NM_016239.4(MYO15A):c.6614C>T (p.Thr2205Ile) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 3 [RCV001122993]|Deafness, with smith-magenis syndrome [RCV000007371]|not provided [RCV000835662]|not specified [RCV000038978] |
Chr17:18148133 [GRCh38] Chr17:18051447 [GRCh37] Chr17:17p11.2 |
pathogenic|benign|likely benign|uncertain significance |
NM_016239.4(MYO15A):c.3313G>T (p.Glu1105Ter) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 3 [RCV000007372] |
Chr17:18122113 [GRCh38] Chr17:18025427 [GRCh37] Chr17:17p11.2 |
pathogenic |
NM_016239.4(MYO15A):c.3336del (p.Arg1113fs) |
deletion |
Autosomal recessive nonsyndromic hearing loss 3 [RCV000007373] |
Chr17:18122134 [GRCh38] Chr17:18025448 [GRCh37] Chr17:17p11.2 |
pathogenic |
NM_016239.4(MYO15A):c.5492G>T (p.Gly1831Val) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 3 [RCV000007374] |
Chr17:18141104 [GRCh38] Chr17:18044418 [GRCh37] Chr17:17p11.2 |
pathogenic |
NM_016239.4(MYO15A):c.8968-1G>C |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 3 [RCV000007375] |
Chr17:18158522 [GRCh38] Chr17:18061836 [GRCh37] Chr17:17p11.2 |
pathogenic |
NM_016239.4(MYO15A):c.10573del (p.Ser3525fs) |
deletion |
Autosomal recessive nonsyndromic hearing loss 3 [RCV000007376]|not provided [RCV002464058] |
Chr17:18178850 [GRCh38] Chr17:18082164 [GRCh37] Chr17:17p11.2 |
pathogenic|likely pathogenic |
NM_016239.4(MYO15A):c.9958_9961del (p.Asp3320fs) |
deletion |
Autosomal recessive nonsyndromic hearing loss 3 [RCV000007377] |
Chr17:18167597..18167600 [GRCh38] Chr17:18070911..18070914 [GRCh37] Chr17:17p11.2 |
pathogenic |
NM_016239.4(MYO15A):c.9229+52T>C |
single nucleotide variant |
not provided [RCV001571119] |
Chr17:18159399 [GRCh38] Chr17:18062713 [GRCh37] Chr17:17p11.2 |
likely benign |
NM_016239.4(MYO15A):c.32_40del (p.Ala11_Lys13del) |
deletion |
not provided [RCV000728157] |
Chr17:18118825..18118833 [GRCh38] Chr17:18022139..18022147 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.4990C>A (p.Gln1664Lys) |
single nucleotide variant |
not provided [RCV000727905] |
Chr17:18138229 [GRCh38] Chr17:18041543 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.7396-1G>A |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 3 [RCV002224967]|not provided [RCV000521911] |
Chr17:18150835 [GRCh38] Chr17:18054149 [GRCh37] Chr17:17p11.2 |
pathogenic|likely pathogenic |
NM_016239.4(MYO15A):c.6328G>A (p.Gly2110Arg) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 3 [RCV002476065]|not provided [RCV000521834] |
Chr17:18145926 [GRCh38] Chr17:18049240 [GRCh37] Chr17:17p11.2 |
likely pathogenic|uncertain significance |
NM_016239.4(MYO15A):c.10077G>A (p.Pro3359=) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 3 [RCV001123266]|not provided [RCV000901400]|not specified [RCV000038964] |
Chr17:18167718 [GRCh38] Chr17:18071032 [GRCh37] Chr17:17p11.2 |
likely benign|uncertain significance |
NM_016239.4(MYO15A):c.10182G>A (p.Ala3394=) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 3 [RCV001123268]|not provided [RCV000957557]|not specified [RCV000038965] |
Chr17:18171737 [GRCh38] Chr17:18075051 [GRCh37] Chr17:17p11.2 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_016239.4(MYO15A):c.10393C>T (p.Arg3465Trp) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 3 [RCV001123270]|not provided [RCV000915194]|not specified [RCV000038966] |
Chr17:18173823 [GRCh38] Chr17:18077137 [GRCh37] Chr17:17p11.2 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_016239.4(MYO15A):c.10431T>C (p.Tyr3477=) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 3 [RCV000755583]|not provided [RCV002054725]|not specified [RCV000038967] |
Chr17:18173861 [GRCh38] Chr17:18077175 [GRCh37] Chr17:17p11.2 |
benign|likely benign |
NM_016239.4(MYO15A):c.3979C>T (p.Leu1327=) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 3 [RCV001122773]|not provided [RCV000585141]|not specified [RCV000038968] |
Chr17:18127112 [GRCh38] Chr17:18030426 [GRCh37] Chr17:17p11.2 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_016239.4(MYO15A):c.4206+13C>G |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 3 [RCV000341220]|not provided [RCV001565861]|not specified [RCV000038969] |
Chr17:18131544 [GRCh38] Chr17:18034858 [GRCh37] Chr17:17p11.2 |
benign|likely benign|uncertain significance |
NM_016239.4(MYO15A):c.4779+9G>A |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 3 [RCV000357080]|not provided [RCV000891622]|not specified [RCV000038970] |
Chr17:18136695 [GRCh38] Chr17:18040009 [GRCh37] Chr17:17p11.2 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_016239.4(MYO15A):c.5212-14C>T |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 3 [RCV000269512]|not provided [RCV001610333]|not specified [RCV000038971] |
Chr17:18140503 [GRCh38] Chr17:18043817 [GRCh37] Chr17:17p11.2 |
benign|likely benign |
NM_016239.4(MYO15A):c.5360+13G>T |
single nucleotide variant |
not provided [RCV002513519]|not specified [RCV000038972] |
Chr17:18140678 [GRCh38] Chr17:18043992 [GRCh37] Chr17:17p11.2 |
likely benign |
NM_016239.4(MYO15A):c.5649+14G>A |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 3 [RCV000285198]|not provided [RCV001636626]|not specified [RCV000038973] |
Chr17:18141784 [GRCh38] Chr17:18045098 [GRCh37] Chr17:17p11.2 |
benign|likely benign |
NM_016239.4(MYO15A):c.5826-12A>C |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 3 [RCV000606594]|not provided [RCV001636627]|not specified [RCV000038974] |
Chr17:18142744 [GRCh38] Chr17:18046058 [GRCh37] Chr17:17p11.2 |
benign|likely benign |
NM_016239.4(MYO15A):c.5880C>T (p.His1960=) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 3 [RCV000405699]|not provided [RCV000841384]|not specified [RCV000038975] |
Chr17:18142810 [GRCh38] Chr17:18046124 [GRCh37] Chr17:17p11.2 |
benign|likely benign|uncertain significance |
NM_016239.4(MYO15A):c.5929T>C (p.Cys1977Arg) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 3 [RCV000613633]|Nonsyndromic genetic hearing loss [RCV002228153]|not provided [RCV001618235]|not specified [RCV000038976] |
Chr17:18143584 [GRCh38] Chr17:18046898 [GRCh37] Chr17:17p11.2 |
benign|likely benign |
NM_016239.4(MYO15A):c.6052G>A (p.Gly2018Arg) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 3 [RCV000307901]|not provided [RCV002054726]|not specified [RCV000038977] |
Chr17:18143875 [GRCh38] Chr17:18047189 [GRCh37] Chr17:17p11.2 |
benign|likely benign |
NM_016239.4(MYO15A):c.6743C>T (p.Ala2248Val) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 3 [RCV001124058]|not provided [RCV000884206]|not specified [RCV000038979] |
Chr17:18148547 [GRCh38] Chr17:18051861 [GRCh37] Chr17:17p11.2 |
benign|likely benign|uncertain significance |
NM_016239.4(MYO15A):c.6788G>A (p.Gly2263Asp) |
single nucleotide variant |
Rare genetic deafness [RCV000038980] |
Chr17:18148784 [GRCh38] Chr17:18052098 [GRCh37] Chr17:17p11.2 |
likely pathogenic|uncertain significance |
NM_016239.4(MYO15A):c.7185T>C (p.Phe2395=) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 3 [RCV000278858]|not provided [RCV002054727]|not specified [RCV000038982] |
Chr17:18149553 [GRCh38] Chr17:18052867 [GRCh37] Chr17:17p11.2 |
benign |
NM_016239.4(MYO15A):c.7468G>A (p.Ala2490Thr) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 3 [RCV000348421]|not provided [RCV002054728]|not specified [RCV000038983] |
Chr17:18150908 [GRCh38] Chr17:18054222 [GRCh37] Chr17:17p11.2 |
benign|likely benign |
NM_016239.4(MYO15A):c.7503G>A (p.Thr2501=) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 3 [RCV000344867]|not provided [RCV000992398]|not specified [RCV000038984] |
Chr17:18151139 [GRCh38] Chr17:18054453 [GRCh37] Chr17:17p11.2 |
benign|likely benign|uncertain significance |
NM_016239.4(MYO15A):c.7857G>A (p.Gly2619=) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 3 [RCV000362105]|not provided [RCV002054729]|not specified [RCV000038985] |
Chr17:18151915 [GRCh38] Chr17:18055229 [GRCh37] Chr17:17p11.2 |
benign|likely benign |
NM_016239.4(MYO15A):c.7908C>T (p.Ala2636=) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 3 [RCV001124159]|not provided [RCV000841118]|not specified [RCV000038986] |
Chr17:18152126 [GRCh38] Chr17:18055440 [GRCh37] Chr17:17p11.2 |
likely benign |
NM_016239.4(MYO15A):c.7961C>G (p.Thr2654Ser) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 3 [RCV000267439]|not provided [RCV001799615]|not specified [RCV000038987] |
Chr17:18152179 [GRCh38] Chr17:18055493 [GRCh37] Chr17:17p11.2 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_016239.4(MYO15A):c.8090T>C (p.Val2697Ala) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 3 [RCV001265208]|not provided [RCV001552347]|not specified [RCV000038988] |
Chr17:18154132 [GRCh38] Chr17:18057446 [GRCh37] Chr17:17p11.2 |
pathogenic|likely pathogenic|uncertain significance|no classifications from unflagged records |
NM_016239.4(MYO15A):c.8100del (p.Lys2701fs) |
deletion |
Rare genetic deafness [RCV000038989] |
Chr17:18154139 [GRCh38] Chr17:18057453 [GRCh37] Chr17:17p11.2 |
pathogenic |
NM_016239.4(MYO15A):c.8262G>A (p.Thr2754=) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 3 [RCV000388398]|not provided [RCV000947776]|not specified [RCV000038990] |
Chr17:18155147 [GRCh38] Chr17:18058461 [GRCh37] Chr17:17p11.2 |
benign|uncertain significance |
NM_016239.4(MYO15A):c.8322C>T (p.Ser2774=) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 3 [RCV000344380]|not provided [RCV002054730]|not specified [RCV000038991] |
Chr17:18155207 [GRCh38] Chr17:18058521 [GRCh37] Chr17:17p11.2 |
benign|likely benign |
NM_016239.4(MYO15A):c.8339C>T (p.Thr2780Met) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 3 [RCV000999775]|not provided [RCV000756402]|not specified [RCV000038992] |
Chr17:18155224 [GRCh38] Chr17:18058538 [GRCh37] Chr17:17p11.2 |
benign|likely benign |
NM_016239.4(MYO15A):c.8460-15C>T |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 3 [RCV000339170]|not provided [RCV002054731]|not specified [RCV000038993] |
Chr17:18156180 [GRCh38] Chr17:18059494 [GRCh37] Chr17:17p11.2 |
benign|likely benign |
NM_016239.4(MYO15A):c.8652G>A (p.Ala2884=) |
single nucleotide variant |
not provided [RCV001552378]|not specified [RCV000038994] |
Chr17:18157004 [GRCh38] Chr17:18060318 [GRCh37] Chr17:17p11.2 |
likely benign |
NM_016239.4(MYO15A):c.8767C>T (p.Arg2923Ter) |
single nucleotide variant |
Rare genetic deafness [RCV000038995]|not provided [RCV003128573] |
Chr17:18157209 [GRCh38] Chr17:18060523 [GRCh37] Chr17:17p11.2 |
pathogenic |
NM_016239.4(MYO15A):c.9329G>A (p.Arg3110Gln) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 3 [RCV000355288]|not provided [RCV001852816]|not specified [RCV000038996] |
Chr17:18159960 [GRCh38] Chr17:18063274 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.9478C>T (p.Leu3160Phe) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 3 [RCV000989772]|not provided [RCV000513683]|not specified [RCV000038997] |
Chr17:18161408 [GRCh38] Chr17:18064722 [GRCh37] Chr17:17p11.2 |
benign|likely benign|conflicting interpretations of pathogenicity |
NM_016239.4(MYO15A):c.9486C>T (p.Asp3162=) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 3 [RCV000274944]|not provided [RCV002054732]|not specified [RCV000038998] |
Chr17:18161416 [GRCh38] Chr17:18064730 [GRCh37] Chr17:17p11.2 |
benign|likely benign |
NM_016239.4(MYO15A):c.9518-11T>C |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 3 [RCV000311400]|not provided [RCV001650874]|not specified [RCV000038999] |
Chr17:18162574 [GRCh38] Chr17:18065888 [GRCh37] Chr17:17p11.2 |
benign|likely benign |
NM_016239.4(MYO15A):c.9691-3C>A |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 3 [RCV001126926]|not provided [RCV000882659]|not specified [RCV000039000] |
Chr17:18163739 [GRCh38] Chr17:18067053 [GRCh37] Chr17:17p11.2 |
benign|likely benign|uncertain significance |
NM_016239.4(MYO15A):c.9861C>T (p.Gly3287=) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 3 [RCV000677177]|MYO15A-related condition [RCV003398605]|Rare genetic deafness [RCV000039001]|not provided [RCV000766887] |
Chr17:18166434 [GRCh38] Chr17:18069748 [GRCh37] Chr17:17p11.2 |
pathogenic|likely pathogenic|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
GRCh38/hg38 17p11.2(chr17:16879232-18970941)x3 |
copy number gain |
See cases [RCV000050888] |
Chr17:16879232..18970941 [GRCh38] Chr17:16782546..18874254 [GRCh37] Chr17:16723271..18814979 [NCBI36] Chr17:17p11.2 |
pathogenic |
GRCh38/hg38 17p12-11.2(chr17:15776915-18771753)x1 |
copy number loss |
See cases [RCV000050513] |
Chr17:15776915..18771753 [GRCh38] Chr17:15680229..18675066 [GRCh37] Chr17:15620954..18615791 [NCBI36] Chr17:17p12-11.2 |
pathogenic |
GRCh38/hg38 17p12-11.2(chr17:15898032-20620700)x1 |
copy number loss |
See cases [RCV000050602] |
Chr17:15898032..20620700 [GRCh38] Chr17:15801346..20524013 [GRCh37] Chr17:15742071..20464605 [NCBI36] Chr17:17p12-11.2 |
pathogenic |
GRCh38/hg38 17p11.2(chr17:16879232-20390725)x3 |
copy number gain |
See cases [RCV000050622] |
Chr17:16879232..20390725 [GRCh38] Chr17:16782546..20294038 [GRCh37] Chr17:16723271..20234630 [NCBI36] Chr17:17p11.2 |
pathogenic |
GRCh38/hg38 17p11.2(chr17:16879232-20390725)x1 |
copy number loss |
See cases [RCV000050624] |
Chr17:16879232..20390725 [GRCh38] Chr17:16782546..20294038 [GRCh37] Chr17:16723271..20234630 [NCBI36] Chr17:17p11.2 |
pathogenic |
GRCh38/hg38 17p12-11.2(chr17:15259164-20925299)x3 |
copy number gain |
See cases [RCV000051852] |
Chr17:15259164..20925299 [GRCh38] Chr17:15162481..20828612 [GRCh37] Chr17:15103206..20769204 [NCBI36] Chr17:17p12-11.2 |
pathogenic |
GRCh38/hg38 17p12-11.2(chr17:15897832-20620841)x3 |
copy number gain |
See cases [RCV000051853] |
Chr17:15897832..20620841 [GRCh38] Chr17:15801146..20524154 [GRCh37] Chr17:15741871..20464746 [NCBI36] Chr17:17p12-11.2 |
pathogenic |
GRCh38/hg38 17p11.2(chr17:16836827-20340442)x3 |
copy number gain |
See cases [RCV000051876] |
Chr17:16836827..20340442 [GRCh38] Chr17:16740141..20243755 [GRCh37] Chr17:16680866..20184347 [NCBI36] Chr17:17p11.2 |
pathogenic |
GRCh38/hg38 17p11.2(chr17:16656168-20390725)x3 |
copy number gain |
See cases [RCV000051855] |
Chr17:16656168..20390725 [GRCh38] Chr17:16559482..20294038 [GRCh37] Chr17:16500207..20234630 [NCBI36] Chr17:17p11.2 |
pathogenic |
GRCh38/hg38 17p11.2(chr17:16836827-20504849)x3 |
copy number gain |
See cases [RCV000051877] |
Chr17:16836827..20504849 [GRCh38] Chr17:16740141..20408162 [GRCh37] Chr17:16680866..20348754 [NCBI36] Chr17:17p11.2 |
pathogenic |
GRCh38/hg38 17p11.2(chr17:16919369-20289856)x3 |
copy number gain |
See cases [RCV000051879] |
Chr17:16919369..20289856 [GRCh38] Chr17:16822683..20193169 [GRCh37] Chr17:16763408..20133761 [NCBI36] Chr17:17p11.2 |
pathogenic |
GRCh38/hg38 17p11.2(chr17:16692462-20390725)x3 |
copy number gain |
See cases [RCV000051858] |
Chr17:16692462..20390725 [GRCh38] Chr17:16595776..20294038 [GRCh37] Chr17:16536501..20234630 [NCBI36] Chr17:17p11.2 |
pathogenic |
GRCh38/hg38 17p11.2(chr17:16713514-20582527)x3 |
copy number gain |
See cases [RCV000051860] |
Chr17:16713514..20582527 [GRCh38] Chr17:16616828..20485840 [GRCh37] Chr17:16557553..20426432 [NCBI36] Chr17:17p11.2 |
pathogenic |
GRCh38/hg38 17p11.2(chr17:16713515-20340442)x3 |
copy number gain |
See cases [RCV000051871] |
Chr17:16713515..20340442 [GRCh38] Chr17:16616829..20243755 [GRCh37] Chr17:16557554..20184347 [NCBI36] Chr17:17p11.2 |
pathogenic |
GRCh38/hg38 17p12-11.2(chr17:15234685-20620700)x3 |
copy number gain |
See cases [RCV000051849] |
Chr17:15234685..20620700 [GRCh38] Chr17:15138002..20524013 [GRCh37] Chr17:15078727..20464605 [NCBI36] Chr17:17p12-11.2 |
pathogenic |
GRCh38/hg38 17p11.2(chr17:16760817-20429770)x3 |
copy number gain |
See cases [RCV000051872] |
Chr17:16760817..20429770 [GRCh38] Chr17:16664131..20333083 [GRCh37] Chr17:16604856..20273675 [NCBI36] Chr17:17p11.2 |
pathogenic |
GRCh38/hg38 17p11.2(chr17:16760818-20504849)x3 |
copy number gain |
See cases [RCV000051873] |
Chr17:16760818..20504849 [GRCh38] Chr17:16664132..20408162 [GRCh37] Chr17:16604857..20348754 [NCBI36] Chr17:17p11.2 |
pathogenic |
GRCh38/hg38 17p11.2(chr17:17667721-18301995)x3 |
copy number gain |
See cases [RCV000052477] |
Chr17:17667721..18301995 [GRCh38] Chr17:17571035..18205309 [GRCh37] Chr17:17511760..18146034 [NCBI36] Chr17:17p11.2 |
pathogenic |
GRCh38/hg38 17p12-11.2(chr17:15952071-18362819)x1 |
copy number loss |
See cases [RCV000054329] |
Chr17:15952071..18362819 [GRCh38] Chr17:15855385..18266133 [GRCh37] Chr17:15796110..18206858 [NCBI36] Chr17:17p12-11.2 |
pathogenic |
GRCh38/hg38 17p12-11.2(chr17:16060129-20620841)x1 |
copy number loss |
See cases [RCV000054330] |
Chr17:16060129..20620841 [GRCh38] Chr17:15963443..20524154 [GRCh37] Chr17:15904168..20464746 [NCBI36] Chr17:17p12-11.2 |
pathogenic |
GRCh38/hg38 17p11.2(chr17:16117885-18362819)x1 |
copy number loss |
See cases [RCV000054333] |
Chr17:16117885..18362819 [GRCh38] Chr17:16021199..18266133 [GRCh37] Chr17:15961924..18206858 [NCBI36] Chr17:17p11.2 |
pathogenic |
GRCh38/hg38 17p11.2(chr17:16361086-18219405)x1 |
copy number loss |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054335]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054335]|See cases [RCV000054335] |
Chr17:16361086..18219405 [GRCh38] Chr17:16264400..18122719 [GRCh37] Chr17:16205125..18063444 [NCBI36] Chr17:17p11.2 |
pathogenic |
GRCh38/hg38 17p11.2(chr17:16760818-20390725)x1 |
copy number loss |
See cases [RCV000054337] |
Chr17:16760818..20390725 [GRCh38] Chr17:16664132..20294038 [GRCh37] Chr17:16604857..20234630 [NCBI36] Chr17:17p11.2 |
pathogenic |
GRCh38/hg38 17p11.2(chr17:16817557-18362819)x1 |
copy number loss |
See cases [RCV000054339] |
Chr17:16817557..18362819 [GRCh38] Chr17:16720871..18266133 [GRCh37] Chr17:16661596..18206858 [NCBI36] Chr17:17p11.2 |
pathogenic |
GRCh38/hg38 17p11.2(chr17:16836827-20465067)x1 |
copy number loss |
See cases [RCV000054355] |
Chr17:16836827..20465067 [GRCh38] Chr17:16740141..20368380 [GRCh37] Chr17:16680866..20308972 [NCBI36] Chr17:17p11.2 |
pathogenic |
GRCh38/hg38 17p11.2(chr17:16858444-20340442)x1 |
copy number loss |
See cases [RCV000054356] |
Chr17:16858444..20340442 [GRCh38] Chr17:16761758..20243755 [GRCh37] Chr17:16702483..20184347 [NCBI36] Chr17:17p11.2 |
pathogenic |
GRCh38/hg38 17p11.2(chr17:16858444-20465067)x1 |
copy number loss |
See cases [RCV000054357] |
Chr17:16858444..20465067 [GRCh38] Chr17:16761758..20368380 [GRCh37] Chr17:16702483..20308972 [NCBI36] Chr17:17p11.2 |
pathogenic |
GRCh38/hg38 17p11.2(chr17:17150076-18415759)x1 |
copy number loss |
See cases [RCV000054359] |
Chr17:17150076..18415759 [GRCh38] Chr17:17053390..18319073 [GRCh37] Chr17:16994115..18259798 [NCBI36] Chr17:17p11.2 |
pathogenic |
NM_016239.3(MYO15A):c.9454C>T (p.Leu3152Phe) |
single nucleotide variant |
Malignant melanoma [RCV000071360] |
Chr17:18161384 [GRCh38] Chr17:18064698 [GRCh37] Chr17:18005423 [NCBI36] Chr17:17p11.2 |
not provided |
NM_016239.3(MYO15A):c.10372C>T (p.Leu3458=) |
single nucleotide variant |
Malignant melanoma [RCV000071361] |
Chr17:18173802 [GRCh38] Chr17:18077116 [GRCh37] Chr17:18017841 [NCBI36] Chr17:17p11.2 |
not provided |
NM_016239.3(MYO15A):c.923G>A (p.Gly308Asp) |
single nucleotide variant |
Malignant melanoma [RCV000063156] |
Chr17:18119723 [GRCh38] Chr17:18023037 [GRCh37] Chr17:17963762 [NCBI36] Chr17:17p11.2 |
not provided |
NM_016239.3(MYO15A):c.6095G>A (p.Arg2032Gln) |
single nucleotide variant |
Malignant melanoma [RCV000063157] |
Chr17:18143918 [GRCh38] Chr17:18047232 [GRCh37] Chr17:17987957 [NCBI36] Chr17:17p11.2 |
not provided |
NM_016239.3(MYO15A):c.7766G>A (p.Gly2589Glu) |
single nucleotide variant |
Malignant melanoma [RCV000063158] |
Chr17:18151506 [GRCh38] Chr17:18054820 [GRCh37] Chr17:17995545 [NCBI36] Chr17:17p11.2 |
not provided |
NM_016239.4(MYO15A):c.7006dup (p.Gln2336fs) |
duplication |
Rare genetic deafness [RCV000038981]|not provided [RCV003238726] |
Chr17:18149261..18149262 [GRCh38] Chr17:18052575..18052576 [GRCh37] Chr17:17p11.2 |
pathogenic |
NM_016239.4(MYO15A):c.8340+5G>A |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 3 [RCV002224969]|not specified [RCV000603042] |
Chr17:18155230 [GRCh38] Chr17:18058544 [GRCh37] Chr17:17p11.2 |
pathogenic|uncertain significance |
NM_016239.4(MYO15A):c.7006C>T (p.Gln2336Ter) |
single nucleotide variant |
Childhood onset hearing loss [RCV001328010] |
Chr17:18149265 [GRCh38] Chr17:18052579 [GRCh37] Chr17:17p11.2 |
pathogenic|likely pathogenic |
NM_016239.4(MYO15A):c.10045C>T (p.Gln3349Ter) |
single nucleotide variant |
Inborn genetic diseases [RCV001266949]|Nonsyndromic genetic hearing loss [RCV002240823]|Rare genetic deafness [RCV001195428] |
Chr17:18167686 [GRCh38] Chr17:18071000 [GRCh37] Chr17:17p11.2 |
pathogenic |
GRCh37/hg19 17p11.2(chr17:16664739-20370783) |
copy number gain |
Potocki-Lupski syndrome [RCV003236713] |
Chr17:16664739..20370783 [GRCh37] Chr17:17p11.2 |
pathogenic |
NM_016239.4(MYO15A):c.6253G>A (p.Ala2085Thr) |
single nucleotide variant |
not provided [RCV000593922] |
Chr17:18144572 [GRCh38] Chr17:18047886 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.4153T>G (p.Ser1385Ala) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 3 [RCV001333910] |
Chr17:18131478 [GRCh38] Chr17:18034792 [GRCh37] Chr17:17p11.2 |
uncertain significance |
GRCh38/hg38 17p11.2(chr17:16879232-20316151)x3 |
copy number gain |
See cases [RCV000133695] |
Chr17:16879232..20316151 [GRCh38] Chr17:16782546..20219464 [GRCh37] Chr17:16723271..20160056 [NCBI36] Chr17:17p11.2 |
pathogenic |
GRCh38/hg38 17p11.2(chr17:16854250-20492169)x3 |
copy number gain |
See cases [RCV000134467] |
Chr17:16854250..20492169 [GRCh38] Chr17:16757564..20395482 [GRCh37] Chr17:16698289..20336074 [NCBI36] Chr17:17p11.2 |
pathogenic |
GRCh38/hg38 17p11.2(chr17:17788412-18333372)x1 |
copy number loss |
See cases [RCV000135862] |
Chr17:17788412..18333372 [GRCh38] Chr17:17691726..18236686 [GRCh37] Chr17:17632451..18177411 [NCBI36] Chr17:17p11.2 |
pathogenic |
GRCh38/hg38 17p11.2(chr17:17331511-20022528)x1 |
copy number loss |
See cases [RCV000135874] |
Chr17:17331511..20022528 [GRCh38] Chr17:17234825..19925841 [GRCh37] Chr17:17175550..19866433 [NCBI36] Chr17:17p11.2 |
pathogenic |
GRCh38/hg38 17p11.2(chr17:16734588-18333372)x1 |
copy number loss |
See cases [RCV000135774] |
Chr17:16734588..18333372 [GRCh38] Chr17:16637902..18236686 [GRCh37] Chr17:16578627..18177411 [NCBI36] Chr17:17p11.2 |
pathogenic |
GRCh38/hg38 17p11.2(chr17:16879233-20390697)x1 |
copy number loss |
See cases [RCV000135996] |
Chr17:16879233..20390697 [GRCh38] Chr17:16782547..20294010 [GRCh37] Chr17:16723272..20234602 [NCBI36] Chr17:17p11.2 |
pathogenic |
GRCh38/hg38 17p11.2(chr17:16734558-20390697)x3 |
copy number gain |
See cases [RCV000135997] |
Chr17:16734558..20390697 [GRCh38] Chr17:16637872..20294010 [GRCh37] Chr17:16578597..20234602 [NCBI36] Chr17:17p11.2 |
pathogenic |
GRCh38/hg38 17p11.2(chr17:16734558-20390697)x1 |
copy number loss |
See cases [RCV000135998] |
Chr17:16734558..20390697 [GRCh38] Chr17:16637872..20294010 [GRCh37] Chr17:16578597..20234602 [NCBI36] Chr17:17p11.2 |
pathogenic |
GRCh38/hg38 17p11.2(chr17:16734588-20390725)x1 |
copy number loss |
See cases [RCV000136906] |
Chr17:16734588..20390725 [GRCh38] Chr17:16637902..20294038 [GRCh37] Chr17:16578627..20234630 [NCBI36] Chr17:17p11.2 |
pathogenic |
GRCh38/hg38 17p11.2(chr17:16734588-20316151)x1 |
copy number loss |
See cases [RCV000136951] |
Chr17:16734588..20316151 [GRCh38] Chr17:16637902..20219464 [GRCh37] Chr17:16578627..20160056 [NCBI36] Chr17:17p11.2 |
pathogenic |
GRCh38/hg38 17p12-11.2(chr17:15210400-18280816)x3 |
copy number gain |
See cases [RCV000137171] |
Chr17:15210400..18280816 [GRCh38] Chr17:15113717..18184130 [GRCh37] Chr17:15054442..18124855 [NCBI36] Chr17:17p12-11.2 |
pathogenic|likely pathogenic |
GRCh38/hg38 17p11.2(chr17:16699816-20390725)x1 |
copy number loss |
See cases [RCV000137974] |
Chr17:16699816..20390725 [GRCh38] Chr17:16603130..20294038 [GRCh37] Chr17:16543855..20234630 [NCBI36] Chr17:17p11.2 |
pathogenic|likely benign |
GRCh38/hg38 17p11.2(chr17:16854250-20492214)x3 |
copy number gain |
See cases [RCV000138255] |
Chr17:16854250..20492214 [GRCh38] Chr17:16757564..20395527 [GRCh37] Chr17:16698289..20336119 [NCBI36] Chr17:17p11.2 |
pathogenic |
GRCh38/hg38 17p11.2(chr17:17331511-19017784)x3 |
copy number gain |
See cases [RCV000138572] |
Chr17:17331511..19017784 [GRCh38] Chr17:17234825..18921097 [GRCh37] Chr17:17175550..18861822 [NCBI36] Chr17:17p11.2 |
uncertain significance |
GRCh38/hg38 17p11.2(chr17:16989087-20370816)x1 |
copy number loss |
See cases [RCV000139239] |
Chr17:16989087..20370816 [GRCh38] Chr17:16892401..20274129 [GRCh37] Chr17:16833126..20214721 [NCBI36] Chr17:17p11.2 |
pathogenic |
GRCh38/hg38 17p11.2(chr17:17748602-18551638)x3 |
copy number gain |
See cases [RCV000139243] |
Chr17:17748602..18551638 [GRCh38] Chr17:17651916..18454952 [GRCh37] Chr17:17592641..18395677 [NCBI36] Chr17:17p11.2 |
likely benign |
GRCh38/hg38 17p11.2(chr17:16854250-20560048)x3 |
copy number gain |
See cases [RCV000139188] |
Chr17:16854250..20560048 [GRCh38] Chr17:16757564..20463361 [GRCh37] Chr17:16698289..20403953 [NCBI36] Chr17:17p11.2 |
pathogenic |
GRCh38/hg38 17p11.2(chr17:16699694-20530646)x3 |
copy number gain |
See cases [RCV000140217] |
Chr17:16699694..20530646 [GRCh38] Chr17:16603008..20433959 [GRCh37] Chr17:16543733..20374551 [NCBI36] Chr17:17p11.2 |
pathogenic |
GRCh38/hg38 17p12-11.2(chr17:15883037-20620700)x1 |
copy number loss |
See cases [RCV000139510] |
Chr17:15883037..20620700 [GRCh38] Chr17:15786351..20524013 [GRCh37] Chr17:15727076..20464605 [NCBI36] Chr17:17p12-11.2 |
pathogenic|likely pathogenic |
GRCh38/hg38 17p11.2(chr17:16656162-20390697)x1 |
copy number loss |
See cases [RCV000139558] |
Chr17:16656162..20390697 [GRCh38] Chr17:16559476..20294010 [GRCh37] Chr17:16500201..20234602 [NCBI36] Chr17:17p11.2 |
pathogenic |
GRCh38/hg38 17p11.2(chr17:17018951-20148630)x1 |
copy number loss |
See cases [RCV000141105] |
Chr17:17018951..20148630 [GRCh38] Chr17:16922265..20051943 [GRCh37] Chr17:16862990..19992535 [NCBI36] Chr17:17p11.2 |
pathogenic |
NM_016239.4(MYO15A):c.5978G>A (p.Arg1993Gln) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 3 [RCV000779209]|not provided [RCV001582700]|not specified [RCV000203018] |
Chr17:18143728 [GRCh38] Chr17:18047042 [GRCh37] Chr17:17p11.2 |
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
GRCh38/hg38 17p11.2(chr17:16699816-20492214)x3 |
copy number gain |
See cases [RCV000140852] |
Chr17:16699816..20492214 [GRCh38] Chr17:16603130..20395527 [GRCh37] Chr17:16543855..20336119 [NCBI36] Chr17:17p11.2 |
pathogenic |
GRCh38/hg38 17p11.2(chr17:16838097-20436415)x1 |
copy number loss |
See cases [RCV000141975] |
Chr17:16838097..20436415 [GRCh38] Chr17:16741411..20339728 [GRCh37] Chr17:16682136..20280320 [NCBI36] Chr17:17p11.2 |
pathogenic |
GRCh38/hg38 17p11.2(chr17:17067833-19019419)x1 |
copy number loss |
See cases [RCV000141729] |
Chr17:17067833..19019419 [GRCh38] Chr17:16971147..18922732 [GRCh37] Chr17:16911872..18863457 [NCBI36] Chr17:17p11.2 |
pathogenic |
GRCh38/hg38 17p11.2(chr17:18077127-18521388)x3 |
copy number gain |
See cases [RCV000142462] |
Chr17:18077127..18521388 [GRCh38] Chr17:17980441..18424702 [GRCh37] Chr17:17921166..18365427 [NCBI36] Chr17:17p11.2 |
pathogenic |
NM_016239.4(MYO15A):c.6403G>T (p.Val2135Leu) |
single nucleotide variant |
not provided [RCV003114367]|not specified [RCV000203212] |
Chr17:18146001 [GRCh38] Chr17:18049315 [GRCh37] Chr17:17p11.2 |
uncertain significance |
GRCh38/hg38 17p11.2(chr17:16858500-20570955)x3 |
copy number gain |
See cases [RCV000142075] |
Chr17:16858500..20570955 [GRCh38] Chr17:16761814..20474268 [GRCh37] Chr17:16702539..20414860 [NCBI36] Chr17:17p11.2 |
pathogenic |
GRCh38/hg38 17p12-11.2(chr17:15552362-19014200)x3 |
copy number gain |
See cases [RCV000142169] |
Chr17:15552362..19014200 [GRCh38] Chr17:15455676..18917513 [GRCh37] Chr17:15396401..18858238 [NCBI36] Chr17:17p12-11.2 |
pathogenic |
GRCh38/hg38 17p11.2(chr17:16734588-18834703)x1 |
copy number loss |
See cases [RCV000142986] |
Chr17:16734588..18834703 [GRCh38] Chr17:16637902..18738016 [GRCh37] Chr17:16578627..18678741 [NCBI36] Chr17:17p11.2 |
pathogenic |
GRCh38/hg38 17p11.2(chr17:16696708-20492860)x3 |
copy number gain |
See cases [RCV000143381] |
Chr17:16696708..20492860 [GRCh38] Chr17:16600022..20396173 [GRCh37] Chr17:16540747..20336765 [NCBI36] Chr17:17p11.2 |
pathogenic |
GRCh38/hg38 17p11.2(chr17:16718415-20546210)x3 |
copy number gain |
See cases [RCV000143417] |
Chr17:16718415..20546210 [GRCh38] Chr17:16621729..20449523 [GRCh37] Chr17:16562454..20390115 [NCBI36] Chr17:17p11.2 |
pathogenic |
GRCh38/hg38 17p11.2(chr17:16699816-20428292)x1 |
copy number loss |
See cases [RCV000143181] |
Chr17:16699816..20428292 [GRCh38] Chr17:16603130..20331605 [GRCh37] Chr17:16543855..20272197 [NCBI36] Chr17:17p11.2 |
pathogenic |
GRCh38/hg38 17p11.2(chr17:16858500-20559337)x1 |
copy number loss |
See cases [RCV000143210] |
Chr17:16858500..20559337 [GRCh38] Chr17:16761814..20462650 [GRCh37] Chr17:16702539..20403242 [NCBI36] Chr17:17p11.2 |
pathogenic |
GRCh38/hg38 17p12-11.2(chr17:15883037-20658018)x1 |
copy number loss |
See cases [RCV000143177] |
Chr17:15883037..20658018 [GRCh38] Chr17:15786351..20561331 [GRCh37] Chr17:15727076..20501923 [NCBI36] Chr17:17p12-11.2 |
pathogenic |
GRCh38/hg38 17p11.2(chr17:16426633-20998588)x3 |
copy number gain |
See cases [RCV000143715] |
Chr17:16426633..20998588 [GRCh38] Chr17:16329947..20901901 [GRCh37] Chr17:16270672..20842493 [NCBI36] Chr17:17p11.2 |
pathogenic |
GRCh38/hg38 17p12-11.2(chr17:15850859-20649235)x1 |
copy number loss |
See cases [RCV000143650] |
Chr17:15850859..20649235 [GRCh38] Chr17:15754173..20552548 [GRCh37] Chr17:15694898..20493140 [NCBI36] Chr17:17p12-11.2 |
pathogenic |
GRCh38/hg38 17p11.2(chr17:16853120-20436482)x1 |
copy number loss |
See cases [RCV000143596] |
Chr17:16853120..20436482 [GRCh38] Chr17:16756434..20339795 [GRCh37] Chr17:16697159..20280387 [NCBI36] Chr17:17p11.2 |
pathogenic |
GRCh38/hg38 17p12-11.2(chr17:15729893-20510251)x1 |
copy number loss |
See cases [RCV000143485] |
Chr17:15729893..20510251 [GRCh38] Chr17:15633207..20413564 [GRCh37] Chr17:15573932..20354156 [NCBI36] Chr17:17p12-11.2 |
pathogenic |
NM_016239.4(MYO15A):c.8907C>T (p.Ala2969=) |
single nucleotide variant |
not specified [RCV000155864] |
Chr17:18157840 [GRCh38] Chr17:18061154 [GRCh37] Chr17:17p11.2 |
likely benign |
NM_016239.4(MYO15A):c.6657G>A (p.Lys2219=) |
single nucleotide variant |
not provided [RCV001569035]|not specified [RCV000155992] |
Chr17:18148176 [GRCh38] Chr17:18051490 [GRCh37] Chr17:17p11.2 |
likely benign |
NM_016239.4(MYO15A):c.10136C>A (p.Ser3379Ter) |
single nucleotide variant |
Rare genetic deafness [RCV000156009] |
Chr17:18171691 [GRCh38] Chr17:18075005 [GRCh37] Chr17:17p11.2 |
pathogenic |
NM_016239.4(MYO15A):c.5964+3G>C |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 3 [RCV001254924]|not provided [RCV001570481]|not specified [RCV000156056] |
Chr17:18143622 [GRCh38] Chr17:18046936 [GRCh37] Chr17:17p11.2 |
pathogenic|uncertain significance |
NM_016239.4(MYO15A):c.6669G>A (p.Ala2223=) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 3 [RCV000268143]|not provided [RCV000762237]|not specified [RCV000156109] |
Chr17:18148188 [GRCh38] Chr17:18051502 [GRCh37] Chr17:17p11.2 |
likely benign|uncertain significance |
NM_016239.4(MYO15A):c.7833G>A (p.Glu2611=) |
single nucleotide variant |
not provided [RCV002056113]|not specified [RCV000156153] |
Chr17:18151891 [GRCh38] Chr17:18055205 [GRCh37] Chr17:17p11.2 |
likely benign |
NM_016239.4(MYO15A):c.5958G>A (p.Glu1986=) |
single nucleotide variant |
not specified [RCV000156301] |
Chr17:18143613 [GRCh38] Chr17:18046927 [GRCh37] Chr17:17p11.2 |
likely benign |
NM_016239.4(MYO15A):c.5851del (p.Ser1951fs) |
deletion |
Nonsyndromic genetic hearing loss [RCV000156414] |
Chr17:18142781 [GRCh38] Chr17:18046095 [GRCh37] Chr17:17p11.2 |
pathogenic |
NM_016239.4(MYO15A):c.5934G>A (p.Gln1978=) |
single nucleotide variant |
not provided [RCV000926610]|not specified [RCV000156477] |
Chr17:18143589 [GRCh38] Chr17:18046903 [GRCh37] Chr17:17p11.2 |
likely benign |
NM_016239.4(MYO15A):c.5380C>T (p.Arg1794Cys) |
single nucleotide variant |
Inborn genetic diseases [RCV003343664]|not specified [RCV000156497] |
Chr17:18140806 [GRCh38] Chr17:18044120 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.3658G>A (p.Gly1220Arg) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 3 [RCV001126424]|not provided [RCV000879416]|not specified [RCV000151386] |
Chr17:18124531 [GRCh38] Chr17:18027845 [GRCh37] Chr17:17p11.2 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_016239.4(MYO15A):c.3909C>T (p.Leu1303=) |
single nucleotide variant |
not provided [RCV002055992]|not specified [RCV000151388] |
Chr17:18126833 [GRCh38] Chr17:18030147 [GRCh37] Chr17:17p11.2 |
likely benign |
NM_016239.4(MYO15A):c.4038+7_4038+8del |
deletion |
not specified [RCV000151389] |
Chr17:18130817..18130818 [GRCh38] Chr17:18034131..18034132 [GRCh37] Chr17:17p11.2 |
likely benign |
NM_016239.4(MYO15A):c.4039-15C>T |
single nucleotide variant |
not specified [RCV000151390] |
Chr17:18131224 [GRCh38] Chr17:18034538 [GRCh37] Chr17:17p11.2 |
likely benign |
NM_016239.4(MYO15A):c.4848C>G (p.Phe1616Leu) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 3 [RCV000477791]|not specified [RCV000151392] |
Chr17:18137652 [GRCh38] Chr17:18040966 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.5055C>T (p.Ala1685=) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 3 [RCV001128570]|not provided [RCV000911821]|not specified [RCV000151393] |
Chr17:18138858 [GRCh38] Chr17:18042172 [GRCh37] Chr17:17p11.2 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_016239.4(MYO15A):c.5531+1G>A |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 3 [RCV001254925]|Rare genetic deafness [RCV000151394] |
Chr17:18141144 [GRCh38] Chr17:18044458 [GRCh37] Chr17:17p11.2 |
pathogenic |
NM_016239.4(MYO15A):c.5886C>T (p.Tyr1962=) |
single nucleotide variant |
not provided [RCV002055993]|not specified [RCV000151397] |
Chr17:18142816 [GRCh38] Chr17:18046130 [GRCh37] Chr17:17p11.2 |
likely benign |
NM_016239.4(MYO15A):c.6292G>A (p.Asp2098Asn) |
single nucleotide variant |
not provided [RCV003162615]|not specified [RCV000151399] |
Chr17:18145890 [GRCh38] Chr17:18049204 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.6610C>T (p.Arg2204Cys) |
single nucleotide variant |
Rare genetic deafness [RCV000151402] |
Chr17:18148129 [GRCh38] Chr17:18051443 [GRCh37] Chr17:17p11.2 |
likely pathogenic|uncertain significance |
NM_016239.4(MYO15A):c.6864G>A (p.Ser2288=) |
single nucleotide variant |
not provided [RCV000896997]|not specified [RCV000151403] |
Chr17:18148860 [GRCh38] Chr17:18052174 [GRCh37] Chr17:17p11.2 |
likely benign |
NM_016239.4(MYO15A):c.6932C>A (p.Ala2311Glu) |
single nucleotide variant |
not specified [RCV000151404] |
Chr17:18148928 [GRCh38] Chr17:18052242 [GRCh37] Chr17:17p11.2 |
likely benign |
NM_016239.4(MYO15A):c.7068C>T (p.Asp2356=) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 3 [RCV001124061]|not provided [RCV000929654]|not specified [RCV000151405] |
Chr17:18149327 [GRCh38] Chr17:18052641 [GRCh37] Chr17:17p11.2 |
likely benign|uncertain significance |
NM_016239.4(MYO15A):c.7118-12C>T |
single nucleotide variant |
not specified [RCV000151406] |
Chr17:18149474 [GRCh38] Chr17:18052788 [GRCh37] Chr17:17p11.2 |
likely benign |
NM_016239.4(MYO15A):c.7226del (p.Pro2409fs) |
deletion |
Rare genetic deafness [RCV000151407]|not provided [RCV000255552] |
Chr17:18150441 [GRCh38] Chr17:18053755 [GRCh37] Chr17:17p11.2 |
pathogenic |
NM_016239.4(MYO15A):c.7758G>A (p.Pro2586=) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 3 [RCV001123076]|not provided [RCV000879417]|not specified [RCV000151410] |
Chr17:18151498 [GRCh38] Chr17:18054812 [GRCh37] Chr17:17p11.2 |
likely benign|uncertain significance |
NM_016239.4(MYO15A):c.7893+1G>A |
single nucleotide variant |
Rare genetic deafness [RCV000151411]|not provided [RCV001723714] |
Chr17:18151952 [GRCh38] Chr17:18055266 [GRCh37] Chr17:17p11.2 |
pathogenic|likely pathogenic |
NM_016239.4(MYO15A):c.7893+14G>A |
single nucleotide variant |
not specified [RCV000151412] |
Chr17:18151965 [GRCh38] Chr17:18055279 [GRCh37] Chr17:17p11.2 |
likely benign |
NM_016239.4(MYO15A):c.8170G>A (p.Glu2724Lys) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 3 [RCV002478431]|not specified [RCV000151413] |
Chr17:18154701 [GRCh38] Chr17:18058015 [GRCh37] Chr17:17p11.2 |
likely benign|uncertain significance |
NM_016239.4(MYO15A):c.8404A>G (p.Met2802Val) |
single nucleotide variant |
not specified [RCV000151416] |
Chr17:18155377 [GRCh38] Chr17:18058691 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.8811C>T (p.His2937=) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 3 [RCV000390879]|not provided [RCV000886033]|not specified [RCV000151418] |
Chr17:18157744 [GRCh38] Chr17:18061058 [GRCh37] Chr17:17p11.2 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_016239.4(MYO15A):c.9436C>T (p.His3146Tyr) |
single nucleotide variant |
not specified [RCV000151420] |
Chr17:18161366 [GRCh38] Chr17:18064680 [GRCh37] Chr17:17p11.2 |
benign |
NM_016239.4(MYO15A):c.9517+3G>T |
single nucleotide variant |
not specified [RCV000151421] |
Chr17:18161450 [GRCh38] Chr17:18064764 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.9517+12A>G |
single nucleotide variant |
not specified [RCV000151422] |
Chr17:18161459 [GRCh38] Chr17:18064773 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.10083-4A>C |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 3 [RCV001123267]|not provided [RCV001582621]|not specified [RCV000151429] |
Chr17:18171634 [GRCh38] Chr17:18074948 [GRCh37] Chr17:17p11.2 |
likely benign|uncertain significance |
NM_016239.4(MYO15A):c.10154T>C (p.Val3385Ala) |
single nucleotide variant |
not provided [RCV001850064]|not specified [RCV000151430] |
Chr17:18171709 [GRCh38] Chr17:18075023 [GRCh37] Chr17:17p11.2 |
likely benign|uncertain significance |
NM_016239.4(MYO15A):c.10217-3C>T |
single nucleotide variant |
not specified [RCV000151431] |
Chr17:18172154 [GRCh38] Chr17:18075468 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.6490T>G (p.Phe2164Val) |
single nucleotide variant |
not specified [RCV000156723] |
Chr17:18146088 [GRCh38] Chr17:18049402 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.4777G>A (p.Glu1593Lys) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 3 [RCV002224962]|not provided [RCV001550103]|not specified [RCV000156731] |
Chr17:18136684 [GRCh38] Chr17:18039998 [GRCh37] Chr17:17p11.2 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_016239.4(MYO15A):c.3640C>A (p.Arg1214=) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 3 [RCV001126422]|not specified [RCV000156732] |
Chr17:18124513 [GRCh38] Chr17:18027827 [GRCh37] Chr17:17p11.2 |
likely benign|uncertain significance |
NM_016239.4(MYO15A):c.3866+12G>T |
single nucleotide variant |
not specified [RCV000156863] |
Chr17:18126468 [GRCh38] Chr17:18029782 [GRCh37] Chr17:17p11.2 |
likely benign |
NM_016239.4(MYO15A):c.4482+10C>T |
single nucleotide variant |
not provided [RCV001570355]|not specified [RCV000156925] |
Chr17:18133396 [GRCh38] Chr17:18036710 [GRCh37] Chr17:17p11.2 |
likely benign |
NM_016239.4(MYO15A):c.3774C>T (p.Ile1258=) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 3 [RCV000263636]|not provided [RCV000840173]|not specified [RCV000155188] |
Chr17:18126364 [GRCh38] Chr17:18029678 [GRCh37] Chr17:17p11.2 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_016239.4(MYO15A):c.4719G>A (p.Ala1573=) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 3 [RCV000297869]|not provided [RCV000907717]|not specified [RCV000155189] |
Chr17:18136626 [GRCh38] Chr17:18039940 [GRCh37] Chr17:17p11.2 |
benign|likely benign|uncertain significance |
NM_016239.4(MYO15A):c.5133+15A>G |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 3 [RCV001128571]|not provided [RCV001569624]|not specified [RCV000155190] |
Chr17:18138951 [GRCh38] Chr17:18042265 [GRCh37] Chr17:17p11.2 |
benign|likely benign|uncertain significance |
NM_016239.4(MYO15A):c.5287C>T (p.Arg1763Trp) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 3 [RCV001000460]|not provided [RCV000487626]|not specified [RCV000155191] |
Chr17:18140592 [GRCh38] Chr17:18043906 [GRCh37] Chr17:17p11.2 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_016239.4(MYO15A):c.5754T>G (p.Ile1918Met) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 3 [RCV000392702]|Inborn genetic diseases [RCV001267002]|not provided [RCV000973973]|not specified [RCV000155192] |
Chr17:18142183 [GRCh38] Chr17:18045497 [GRCh37] Chr17:17p11.2 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_016239.4(MYO15A):c.5894G>A (p.Arg1965His) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 3 [RCV001126623]|not provided [RCV000880036]|not specified [RCV000155193] |
Chr17:18142824 [GRCh38] Chr17:18046138 [GRCh37] Chr17:17p11.2 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_016239.4(MYO15A):c.6192G>A (p.Gly2064=) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 3 [RCV000271670]|not provided [RCV001707540]|not specified [RCV000155194] |
Chr17:18144511 [GRCh38] Chr17:18047825 [GRCh37] Chr17:17p11.2 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_016239.4(MYO15A):c.6336C>T (p.Tyr2112=) |
single nucleotide variant |
not provided [RCV000827086]|not specified [RCV000155195] |
Chr17:18145934 [GRCh38] Chr17:18049248 [GRCh37] Chr17:17p11.2 |
benign|likely benign |
NM_016239.4(MYO15A):c.3756C>T (p.Tyr1252=) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 3 [RCV001001965]|not provided [RCV000840090]|not specified [RCV000151387] |
Chr17:18125231 [GRCh38] Chr17:18028545 [GRCh37] Chr17:17p11.2 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_016239.4(MYO15A):c.4655+11G>A |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 3 [RCV001126508]|not provided [RCV001558140]|not specified [RCV000151391] |
Chr17:18136486 [GRCh38] Chr17:18039800 [GRCh37] Chr17:17p11.2 |
benign|likely benign|uncertain significance |
NM_016239.4(MYO15A):c.5532-10C>T |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 3 [RCV001123946]|not provided [RCV000885092]|not specified [RCV000151395] |
Chr17:18141643 [GRCh38] Chr17:18044957 [GRCh37] Chr17:17p11.2 |
likely benign|uncertain significance |
NM_016239.4(MYO15A):c.5866C>T (p.Arg1956Trp) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 3 [RCV000337042]|not provided [RCV000726551]|not specified [RCV000151396] |
Chr17:18142796 [GRCh38] Chr17:18046110 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.6046+1G>A |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 3 [RCV001799510]|Rare genetic deafness [RCV000151398]|not provided [RCV001536291] |
Chr17:18143797 [GRCh38] Chr17:18047111 [GRCh37] Chr17:17p11.2 |
pathogenic|likely pathogenic |
NM_016239.4(MYO15A):c.6112C>T (p.Arg2038Cys) |
single nucleotide variant |
not provided [RCV001450198]|not specified [RCV000151400] |
Chr17:18143935 [GRCh38] Chr17:18047249 [GRCh37] Chr17:17p11.2 |
likely benign |
NM_016239.4(MYO15A):c.6186C>A (p.Ala2062=) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 3 [RCV000362567]|not provided [RCV000726128]|not specified [RCV000151401] |
Chr17:18144505 [GRCh38] Chr17:18047819 [GRCh37] Chr17:17p11.2 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_016239.4(MYO15A):c.7367C>G (p.Ala2456Gly) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 3 [RCV000477852]|not provided [RCV000958415]|not specified [RCV000151408] |
Chr17:18150737 [GRCh38] Chr17:18054051 [GRCh37] Chr17:17p11.2 |
likely benign|uncertain significance |
NM_016239.4(MYO15A):c.7665C>T (p.Ser2555=) |
single nucleotide variant |
not provided [RCV002243825]|not specified [RCV000151409] |
Chr17:18151405 [GRCh38] Chr17:18054719 [GRCh37] Chr17:17p11.2 |
likely benign|uncertain significance |
NM_016239.4(MYO15A):c.8269G>A (p.Val2757Met) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 3 [RCV000289377]|not provided [RCV000762238]|not specified [RCV000151415] |
Chr17:18155154 [GRCh38] Chr17:18058468 [GRCh37] Chr17:17p11.2 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_016239.4(MYO15A):c.8708G>A (p.Arg2903Gln) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 3 [RCV002492559]|Inborn genetic diseases [RCV002516042]|not provided [RCV001657857]|not specified [RCV000151417] |
Chr17:18157060 [GRCh38] Chr17:18060374 [GRCh37] Chr17:17p11.2 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_016239.4(MYO15A):c.9322G>A (p.Val3108Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV003362693]|not provided [RCV000724271]|not specified [RCV000151419] |
Chr17:18159953 [GRCh38] Chr17:18063267 [GRCh37] Chr17:17p11.2 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_016239.4(MYO15A):c.9593T>C (p.Ile3198Thr) |
single nucleotide variant |
not provided [RCV000992399]|not specified [RCV000151423] |
Chr17:18162660 [GRCh38] Chr17:18065974 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.9708G>A (p.Val3236=) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 3 [RCV000272638]|not provided [RCV000947777]|not specified [RCV000151424] |
Chr17:18163759 [GRCh38] Chr17:18067073 [GRCh37] Chr17:17p11.2 |
benign|likely benign|uncertain significance |
NM_016239.4(MYO15A):c.9754A>G (p.Asn3252Asp) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 3 [RCV000327740]|Inborn genetic diseases [RCV002516043]|not provided [RCV000973745]|not specified [RCV000151425] |
Chr17:18163805 [GRCh38] Chr17:18067119 [GRCh37] Chr17:17p11.2 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_016239.4(MYO15A):c.9812G>A (p.Arg3271His) |
single nucleotide variant |
not provided [RCV001847782]|not specified [RCV000151426] |
Chr17:18166385 [GRCh38] Chr17:18069699 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.9873C>T (p.Leu3291=) |
single nucleotide variant |
not provided [RCV000827004]|not specified [RCV000151427] |
Chr17:18166446 [GRCh38] Chr17:18069760 [GRCh37] Chr17:17p11.2 |
benign|likely benign |
NM_016239.4(MYO15A):c.9998G>A (p.Arg3333Gln) |
single nucleotide variant |
Nonsyndromic genetic hearing loss [RCV002228540]|not provided [RCV000896436]|not specified [RCV000151428] |
Chr17:18167639 [GRCh38] Chr17:18070953 [GRCh37] Chr17:17p11.2 |
likely benign |
NM_016239.4(MYO15A):c.6785G>A (p.Arg2262His) |
single nucleotide variant |
not provided [RCV000726301]|not specified [RCV000155196] |
Chr17:18148781 [GRCh38] Chr17:18052095 [GRCh37] Chr17:17p11.2 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_016239.4(MYO15A):c.8714-1G>A |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 3 [RCV000477929]|Rare genetic deafness [RCV000155197]|not provided [RCV002514987] |
Chr17:18157155 [GRCh38] Chr17:18060469 [GRCh37] Chr17:17p11.2 |
pathogenic|likely pathogenic |
NM_016239.4(MYO15A):c.9948+11G>A |
single nucleotide variant |
not specified [RCV000155198] |
Chr17:18166532 [GRCh38] Chr17:18069846 [GRCh37] Chr17:17p11.2 |
likely benign |
NM_016239.4(MYO15A):c.9982A>C (p.Ser3328Arg) |
single nucleotide variant |
not specified [RCV000155199] |
Chr17:18167623 [GRCh38] Chr17:18070937 [GRCh37] Chr17:17p11.2 |
likely benign|uncertain significance |
NM_016239.4(MYO15A):c.10242C>T (p.Phe3414=) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 3 [RCV001123269]|not provided [RCV000954756]|not specified [RCV000155200] |
Chr17:18172182 [GRCh38] Chr17:18075496 [GRCh37] Chr17:17p11.2 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_016239.4(MYO15A):c.6796G>A (p.Val2266Met) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 3 [RCV000999803]|not provided [RCV000755584]|not specified [RCV000155373] |
Chr17:18148792 [GRCh38] Chr17:18052106 [GRCh37] Chr17:17p11.2 |
benign|likely benign|conflicting interpretations of pathogenicity |
NM_016239.4(MYO15A):c.2984_2991del (p.Glu995fs) |
deletion |
not provided [RCV000202813] |
Chr17:18121783..18121790 [GRCh38] Chr17:18025097..18025104 [GRCh37] Chr17:17p11.2 |
pathogenic |
NM_016239.4(MYO15A):c.823G>C (p.Gly275Arg) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 3 [RCV001126235]|not provided [RCV000724577]|not specified [RCV000213326] |
Chr17:18119623 [GRCh38] Chr17:18022937 [GRCh37] Chr17:17p11.2 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_016239.4(MYO15A):c.2418C>T (p.Phe806=) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 3 [RCV000371964]|not provided [RCV000724682]|not specified [RCV000218897] |
Chr17:18121218 [GRCh38] Chr17:18024532 [GRCh37] Chr17:17p11.2 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_016239.4(MYO15A):c.1454T>C (p.Val485Ala) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 3 [RCV001122571]|Global developmental delay [RCV000735396]|not provided [RCV000724197]|not specified [RCV000223359] |
Chr17:18120254 [GRCh38] Chr17:18023568 [GRCh37] Chr17:17p11.2 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_016239.4(MYO15A):c.2225G>T (p.Arg742Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV003372635]|not provided [RCV000175876] |
Chr17:18121025 [GRCh38] Chr17:18024339 [GRCh37] Chr17:17p11.2 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_016239.4(MYO15A):c.1783G>A (p.Ala595Thr) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 3 [RCV000606417]|not provided [RCV002056945]|not specified [RCV000219351] |
Chr17:18120583 [GRCh38] Chr17:18023897 [GRCh37] Chr17:17p11.2 |
benign|likely benign|not provided |
NM_016239.4(MYO15A):c.7984C>G (p.Leu2662Val) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 3 [RCV001124160]|Hearing impairment [RCV001375127]|Inborn genetic diseases [RCV002515265]|not provided [RCV000724328]|not specified [RCV000220279] |
Chr17:18153792 [GRCh38] Chr17:18057106 [GRCh37] Chr17:17p11.2 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_016239.4(MYO15A):c.4033A>T (p.Ile1345Leu) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 3 [RCV000316514]|not provided [RCV000724786]|not specified [RCV000180338] |
Chr17:18130805 [GRCh38] Chr17:18034119 [GRCh37] Chr17:17p11.2 |
benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_016239.4(MYO15A):c.6623C>T (p.Pro2208Leu) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 3 [RCV001122994]|not provided [RCV000177567] |
Chr17:18148142 [GRCh38] Chr17:18051456 [GRCh37] Chr17:17p11.2 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_016239.4(MYO15A):c.3311dup (p.Gly1104_Glu1105insTer) |
duplication |
Autosomal recessive nonsyndromic hearing loss 3 [RCV000185530]|not provided [RCV001657964] |
Chr17:18122105..18122106 [GRCh38] Chr17:18025419..18025420 [GRCh37] Chr17:17p11.2 |
pathogenic |
NM_016239.4(MYO15A):c.5925G>A (p.Trp1975Ter) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 3 [RCV000185531]|not provided [RCV000255905]|not specified [RCV000216211] |
Chr17:18143580 [GRCh38] Chr17:18046894 [GRCh37] Chr17:17p11.2 |
pathogenic|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_016239.4(MYO15A):c.10054G>A (p.Ala3352Thr) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 3 [RCV000185567]|not provided [RCV001449238]|not specified [RCV000507566] |
Chr17:18167695 [GRCh38] Chr17:18071009 [GRCh37] Chr17:17p11.2 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance|not provided |
NM_016239.4(MYO15A):c.7533C>T (p.Pro2511=) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 3 [RCV000390668]|not provided [RCV000362350] |
Chr17:18151169 [GRCh38] Chr17:18054483 [GRCh37] Chr17:17p11.2 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_016239.4(MYO15A):c.2790C>T (p.Asp930=) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 3 [RCV000292458]|not provided [RCV000898322]|not specified [RCV000299631] |
Chr17:18121590 [GRCh38] Chr17:18024904 [GRCh37] Chr17:17p11.2 |
benign|uncertain significance |
NM_016239.4(MYO15A):c.6764+2T>A |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 3 [RCV000778490]|Rare genetic deafness [RCV000600824]|not provided [RCV000369680] |
Chr17:18148570 [GRCh38] Chr17:18051884 [GRCh37] Chr17:17p11.2 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
NM_016239.4(MYO15A):c.9518-10G>A |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 3 [RCV000370766]|not provided [RCV000920910]|not specified [RCV000309492] |
Chr17:18162575 [GRCh38] Chr17:18065889 [GRCh37] Chr17:17p11.2 |
benign|likely benign|uncertain significance |
NM_016239.4(MYO15A):c.3866+1G>A |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 3 [RCV002224964]|not provided [RCV000373141] |
Chr17:18126457 [GRCh38] Chr17:18029771 [GRCh37] Chr17:17p11.2 |
pathogenic|likely pathogenic |
GRCh37/hg19 17p11.2(chr17:16603130-20261191)x1 |
copy number loss |
See cases [RCV000449069] |
Chr17:16603130..20261191 [GRCh37] Chr17:17p11.2 |
pathogenic |
NM_016239.4(MYO15A):c.6170A>C (p.His2057Pro) |
single nucleotide variant |
not provided [RCV001762461]|not specified [RCV000219477] |
Chr17:18143993 [GRCh38] Chr17:18047307 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.829C>T (p.His277Tyr) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 3 [RCV001126236]|not provided [RCV001697217]|not specified [RCV000219479] |
Chr17:18119629 [GRCh38] Chr17:18022943 [GRCh37] Chr17:17p11.2 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_016239.4(MYO15A):c.10076C>T (p.Pro3359Leu) |
single nucleotide variant |
not specified [RCV000223624] |
Chr17:18167717 [GRCh38] Chr17:18071031 [GRCh37] Chr17:17p11.2 |
likely benign|uncertain significance |
NM_016239.4(MYO15A):c.6437G>A (p.Arg2146Gln) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 3 [RCV003133185]|Rare genetic deafness [RCV000215334]|not specified [RCV002298530] |
Chr17:18146035 [GRCh38] Chr17:18049349 [GRCh37] Chr17:17p11.2 |
likely pathogenic|uncertain significance |
NM_016239.4(MYO15A):c.876C>T (p.Pro292=) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 3 [RCV000407530]|not provided [RCV001722149]|not specified [RCV000219642] |
Chr17:18119676 [GRCh38] Chr17:18022990 [GRCh37] Chr17:17p11.2 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_016239.4(MYO15A):c.10228G>C (p.Ala3410Pro) |
single nucleotide variant |
Inborn genetic diseases [RCV002517571]|not provided [RCV001853466]|not specified [RCV000221932] |
Chr17:18172168 [GRCh38] Chr17:18075482 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.915C>T (p.Tyr305=) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 3 [RCV001126238]|not provided [RCV000908664]|not specified [RCV000221993] |
Chr17:18119715 [GRCh38] Chr17:18023029 [GRCh37] Chr17:17p11.2 |
pathogenic|benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_016239.4(MYO15A):c.8602-8_8602-5del |
deletion |
not provided [RCV002518173]|not specified [RCV000213100] |
Chr17:18156945..18156948 [GRCh38] Chr17:18060259..18060262 [GRCh37] Chr17:17p11.2 |
benign|uncertain significance |
NM_016239.4(MYO15A):c.3866C>T (p.Pro1289Leu) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 3 [RCV001128474]|not provided [RCV002517573]|not specified [RCV000217232] |
Chr17:18126456 [GRCh38] Chr17:18029770 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.3659G>A (p.Gly1220Glu) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 3 [RCV000999865]|not provided [RCV000733672]|not specified [RCV000219805] |
Chr17:18124532 [GRCh38] Chr17:18027846 [GRCh37] Chr17:17p11.2 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_016239.4(MYO15A):c.4096G>A (p.Asp1366Asn) |
single nucleotide variant |
not provided [RCV003227719]|not specified [RCV000222212] |
Chr17:18131296 [GRCh38] Chr17:18034610 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.3005C>A (p.Thr1002Asn) |
single nucleotide variant |
not specified [RCV000213180] |
Chr17:18121805 [GRCh38] Chr17:18025119 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.5100C>T (p.Thr1700=) |
single nucleotide variant |
not provided [RCV000841812]|not specified [RCV000213253] |
Chr17:18138903 [GRCh38] Chr17:18042217 [GRCh37] Chr17:17p11.2 |
likely benign |
NM_016239.4(MYO15A):c.6624G>A (p.Pro2208=) |
single nucleotide variant |
not specified [RCV000217459] |
Chr17:18148143 [GRCh38] Chr17:18051457 [GRCh37] Chr17:17p11.2 |
likely benign |
NM_016239.4(MYO15A):c.6620C>T (p.Pro2207Leu) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 3 [RCV002224963]|not specified [RCV000219873] |
Chr17:18148139 [GRCh38] Chr17:18051453 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.1047C>T (p.Tyr349=) |
single nucleotide variant |
not provided [RCV001589116]|not specified [RCV000222286] |
Chr17:18119847 [GRCh38] Chr17:18023161 [GRCh37] Chr17:17p11.2 |
likely benign |
NM_016239.4(MYO15A):c.9025C>T (p.Pro3009Ser) |
single nucleotide variant |
not specified [RCV000222316] |
Chr17:18158580 [GRCh38] Chr17:18061894 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.2462A>C (p.Gln821Pro) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 3 [RCV000279765]|not provided [RCV000963809]|not specified [RCV000213458] |
Chr17:18121262 [GRCh38] Chr17:18024576 [GRCh37] Chr17:17p11.2 |
benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_016239.4(MYO15A):c.3658G>C (p.Gly1220Arg) |
single nucleotide variant |
not provided [RCV000894118]|not specified [RCV000217524] |
Chr17:18124531 [GRCh38] Chr17:18027845 [GRCh37] Chr17:17p11.2 |
benign|likely benign |
NM_016239.4(MYO15A):c.3622C>T (p.Arg1208Cys) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 3 [RCV001126421]|not provided [RCV001589134]|not specified [RCV000213556] |
Chr17:18124495 [GRCh38] Chr17:18027809 [GRCh37] Chr17:17p11.2 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_016239.4(MYO15A):c.4424T>C (p.Ile1475Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV002517574]|not provided [RCV002057169]|not specified [RCV000217620] |
Chr17:18133328 [GRCh38] Chr17:18036642 [GRCh37] Chr17:17p11.2 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_016239.4(MYO15A):c.9620G>A (p.Arg3207His) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 3 [RCV000326631]|Rare genetic deafness [RCV000217646]|not provided [RCV000413658] |
Chr17:18163251 [GRCh38] Chr17:18066565 [GRCh37] Chr17:17p11.2 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
NM_016239.4(MYO15A):c.5526C>T (p.Ile1842=) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 3 [RCV000284096]|not provided [RCV001576266]|not specified [RCV000217710] |
Chr17:18141138 [GRCh38] Chr17:18044452 [GRCh37] Chr17:17p11.2 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_016239.4(MYO15A):c.269T>C (p.Met90Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV003258705]|not provided [RCV000727436]|not specified [RCV000220111] |
Chr17:18119069 [GRCh38] Chr17:18022383 [GRCh37] Chr17:17p11.2 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_016239.4(MYO15A):c.5693G>A (p.Arg1898Gln) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 3 [RCV001374672]|not provided [RCV003148682]|not specified [RCV000215427] |
Chr17:18142122 [GRCh38] Chr17:18045436 [GRCh37] Chr17:17p11.2 |
likely pathogenic|uncertain significance |
NM_016239.4(MYO15A):c.7069G>A (p.Gly2357Ser) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 3 [RCV001286719]|Inborn genetic diseases [RCV002519610]|not provided [RCV000732203]|not specified [RCV000215439] |
Chr17:18149328 [GRCh38] Chr17:18052642 [GRCh37] Chr17:17p11.2 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_016239.4(MYO15A):c.4954C>T (p.Leu1652=) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 3 [RCV000367391]|not provided [RCV002054380]|not specified [RCV000217929] |
Chr17:18138193 [GRCh38] Chr17:18041507 [GRCh37] Chr17:17p11.2 |
benign|likely benign |
NM_016239.4(MYO15A):c.3413A>G (p.Gln1138Arg) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 3 [RCV001123769]|not provided [RCV002054379]|not specified [RCV000213849] |
Chr17:18122213 [GRCh38] Chr17:18025527 [GRCh37] Chr17:17p11.2 |
benign|likely benign |
NM_016239.4(MYO15A):c.869A>G (p.Tyr290Cys) |
single nucleotide variant |
not specified [RCV000218048] |
Chr17:18119669 [GRCh38] Chr17:18022983 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.2238G>T (p.Arg746Ser) |
single nucleotide variant |
Nonsyndromic genetic hearing loss [RCV002229766]|not provided [RCV000428684]|not specified [RCV000220411] |
Chr17:18121038 [GRCh38] Chr17:18024352 [GRCh37] Chr17:17p11.2 |
benign|likely benign |
NM_016239.4(MYO15A):c.4354G>A (p.Ala1452Thr) |
single nucleotide variant |
not specified [RCV000213957] |
Chr17:18133258 [GRCh38] Chr17:18036572 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.467T>C (p.Val156Ala) |
single nucleotide variant |
not provided [RCV002057170]|not specified [RCV000215685] |
Chr17:18119267 [GRCh38] Chr17:18022581 [GRCh37] Chr17:17p11.2 |
likely benign|uncertain significance |
NM_016239.4(MYO15A):c.2028C>A (p.Pro676=) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 3 [RCV000320319]|not provided [RCV000953370]|not specified [RCV000215756] |
Chr17:18120828 [GRCh38] Chr17:18024142 [GRCh37] Chr17:17p11.2 |
benign|likely benign |
NM_016239.4(MYO15A):c.3026C>A (p.Pro1009His) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 3 [RCV000989769]|not provided [RCV000835661]|not specified [RCV000215816] |
Chr17:18121826 [GRCh38] Chr17:18025140 [GRCh37] Chr17:17p11.2 |
benign|likely benign|conflicting interpretations of pathogenicity |
NM_016239.4(MYO15A):c.349_357del (p.Tyr117_Arg119del) |
deletion |
Autosomal recessive nonsyndromic hearing loss 3 [RCV002500713]|not provided [RCV000585396]|not specified [RCV000220520] |
Chr17:18119147..18119155 [GRCh38] Chr17:18022461..18022469 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.5568G>A (p.Pro1856=) |
single nucleotide variant |
not provided [RCV001582728]|not specified [RCV000220653] |
Chr17:18141689 [GRCh38] Chr17:18045003 [GRCh37] Chr17:17p11.2 |
likely benign |
NM_016239.4(MYO15A):c.5870C>A (p.Ser1957Tyr) |
single nucleotide variant |
not specified [RCV000215827] |
Chr17:18142800 [GRCh38] Chr17:18046114 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.8329T>C (p.Phe2777Leu) |
single nucleotide variant |
not specified [RCV000218330] |
Chr17:18155214 [GRCh38] Chr17:18058528 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.931G>T (p.Asp311Tyr) |
single nucleotide variant |
not provided [RCV002517577]|not specified [RCV000220674] |
Chr17:18119731 [GRCh38] Chr17:18023045 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.3140C>G (p.Pro1047Arg) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 3 [RCV001123764]|not provided [RCV000835028]|not specified [RCV000220805] |
Chr17:18121940 [GRCh38] Chr17:18025254 [GRCh37] Chr17:17p11.2 |
benign|likely benign|uncertain significance |
NM_016239.4(MYO15A):c.9123C>G (p.Ser3041=) |
single nucleotide variant |
not specified [RCV000222443] |
Chr17:18158964 [GRCh38] Chr17:18062278 [GRCh37] Chr17:17p11.2 |
likely benign |
NM_016239.4(MYO15A):c.7685C>T (p.Ser2562Phe) |
single nucleotide variant |
not provided [RCV001857744]|not specified [RCV000214260] |
Chr17:18151425 [GRCh38] Chr17:18054739 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.4533C>T (p.Ala1511=) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 3 [RCV000305968]|not provided [RCV000965372]|not specified [RCV000214262] |
Chr17:18135761 [GRCh38] Chr17:18039075 [GRCh37] Chr17:17p11.2 |
benign|likely benign|uncertain significance |
NM_016239.4(MYO15A):c.6060C>T (p.Ala2020=) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 3 [RCV001127023]|not provided [RCV000930267]|not specified [RCV000214323] |
Chr17:18143883 [GRCh38] Chr17:18047197 [GRCh37] Chr17:17p11.2 |
likely benign|uncertain significance |
NM_016239.4(MYO15A):c.1103_1105del (p.Tyr368del) |
deletion |
not specified [RCV000218392] |
Chr17:18119901..18119903 [GRCh38] Chr17:18023215..18023217 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.4484C>T (p.Thr1495Met) |
single nucleotide variant |
not provided [RCV001853415]|not specified [RCV000220894] |
Chr17:18135712 [GRCh38] Chr17:18039026 [GRCh37] Chr17:17p11.2 |
likely benign|uncertain significance |
NM_016239.4(MYO15A):c.1158C>T (p.Gly386=) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 3 [RCV001128288]|not provided [RCV000899324]|not specified [RCV000222609] |
Chr17:18119958 [GRCh38] Chr17:18023272 [GRCh37] Chr17:17p11.2 |
benign|likely benign|uncertain significance |
NM_016239.4(MYO15A):c.9303+1G>T |
single nucleotide variant |
Rare genetic deafness [RCV000218653]|not provided [RCV001818513] |
Chr17:18159680 [GRCh38] Chr17:18062994 [GRCh37] Chr17:17p11.2 |
pathogenic|likely pathogenic |
NM_016239.4(MYO15A):c.5804G>T (p.Arg1935Leu) |
single nucleotide variant |
not specified [RCV000222732] |
Chr17:18142233 [GRCh38] Chr17:18045547 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.2015C>G (p.Ser672Cys) |
single nucleotide variant |
Inborn genetic diseases [RCV002517572]|not specified [RCV000216443] |
Chr17:18120815 [GRCh38] Chr17:18024129 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.8183G>A (p.Arg2728His) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 3 [RCV000778491]|Hearing impairment [RCV001375259]|Inborn genetic diseases [RCV000623670]|Rare genetic deafness [RCV000218811]|not provided [RCV000429443] |
Chr17:18154714 [GRCh38] Chr17:18058028 [GRCh37] Chr17:17p11.2 |
pathogenic|likely pathogenic |
NM_016239.4(MYO15A):c.3999C>T (p.Ala1333=) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 3 [RCV001122775]|not provided [RCV000894458]|not specified [RCV000221194] |
Chr17:18127132 [GRCh38] Chr17:18030446 [GRCh37] Chr17:17p11.2 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_016239.4(MYO15A):c.4407T>C (p.Ser1469=) |
single nucleotide variant |
not provided [RCV001561524]|not specified [RCV000222909] |
Chr17:18133311 [GRCh38] Chr17:18036625 [GRCh37] Chr17:17p11.2 |
likely benign |
NM_016239.4(MYO15A):c.1899A>G (p.Pro633=) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 3 [RCV000613452]|not provided [RCV002057075]|not specified [RCV000222997] |
Chr17:18120699 [GRCh38] Chr17:18024013 [GRCh37] Chr17:17p11.2 |
benign|likely benign |
NM_016239.4(MYO15A):c.8045A>T (p.Tyr2682Phe) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 3 [RCV000317870]|not provided [RCV002054381]|not specified [RCV000214657] |
Chr17:18153853 [GRCh38] Chr17:18057167 [GRCh37] Chr17:17p11.2 |
benign|likely benign |
NM_016239.4(MYO15A):c.9181G>A (p.Glu3061Lys) |
single nucleotide variant |
not provided [RCV000735061]|not specified [RCV000214688] |
Chr17:18159299 [GRCh38] Chr17:18062613 [GRCh37] Chr17:17p11.2 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_016239.4(MYO15A):c.6957-13C>A |
single nucleotide variant |
not specified [RCV000216600] |
Chr17:18149203 [GRCh38] Chr17:18052517 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.10573A>G (p.Ser3525Gly) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 3 [RCV001124372]|not provided [RCV000757540]|not specified [RCV000218979] |
Chr17:18178850 [GRCh38] Chr17:18082164 [GRCh37] Chr17:17p11.2 |
benign|likely benign |
NM_016239.4(MYO15A):c.4642G>A (p.Ala1548Thr) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 3 [RCV001265207]|not provided [RCV000727907]|not specified [RCV000221305] |
Chr17:18136462 [GRCh38] Chr17:18039776 [GRCh37] Chr17:17p11.2 |
pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
NM_016239.4(MYO15A):c.10121G>A (p.Arg3374His) |
single nucleotide variant |
not provided [RCV000992395]|not specified [RCV000221367] |
Chr17:18171676 [GRCh38] Chr17:18074990 [GRCh37] Chr17:17p11.2 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_016239.4(MYO15A):c.5893C>T (p.Arg1965Cys) |
single nucleotide variant |
Inborn genetic diseases [RCV002517576]|not provided [RCV002057171]|not specified [RCV000223122] |
Chr17:18142823 [GRCh38] Chr17:18046137 [GRCh37] Chr17:17p11.2 |
likely benign|uncertain significance |
NM_016239.4(MYO15A):c.2562C>T (p.Cys854=) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 3 [RCV000351080]|not provided [RCV000954505]|not specified [RCV000223138] |
Chr17:18121362 [GRCh38] Chr17:18024676 [GRCh37] Chr17:17p11.2 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_016239.4(MYO15A):c.1149C>T (p.Gly383=) |
single nucleotide variant |
not provided [RCV003114378]|not specified [RCV000214816] |
Chr17:18119949 [GRCh38] Chr17:18023263 [GRCh37] Chr17:17p11.2 |
likely benign |
NM_016239.4(MYO15A):c.5301G>A (p.Ala1767=) |
single nucleotide variant |
not provided [RCV002057119]|not specified [RCV000216608] |
Chr17:18140606 [GRCh38] Chr17:18043920 [GRCh37] Chr17:17p11.2 |
likely benign |
NM_016239.4(MYO15A):c.10181C>T (p.Ala3394Val) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 3 [RCV000279962]|Hearing impairment [RCV001375389]|not provided [RCV000584894]|not specified [RCV000216704] |
Chr17:18171736 [GRCh38] Chr17:18075050 [GRCh37] Chr17:17p11.2 |
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
NM_016239.4(MYO15A):c.2152T>G (p.Trp718Gly) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 3 [RCV000600893]|not provided [RCV002054378]|not specified [RCV000216733] |
Chr17:18120952 [GRCh38] Chr17:18024266 [GRCh37] Chr17:17p11.2 |
benign|likely benign |
NM_016239.4(MYO15A):c.5803C>G (p.Arg1935Gly) |
single nucleotide variant |
not provided [RCV002517575]|not specified [RCV000219098] |
Chr17:18142232 [GRCh38] Chr17:18045546 [GRCh37] Chr17:17p11.2 |
benign|uncertain significance |
NM_016239.4(MYO15A):c.1387A>G (p.Met463Val) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 3 [RCV001128291]|not provided [RCV000886638]|not specified [RCV000219120] |
Chr17:18120187 [GRCh38] Chr17:18023501 [GRCh37] Chr17:17p11.2 |
likely benign|uncertain significance |
NM_016239.4(MYO15A):c.7431G>A (p.Gln2477=) |
single nucleotide variant |
not specified [RCV000221522] |
Chr17:18150871 [GRCh38] Chr17:18054185 [GRCh37] Chr17:17p11.2 |
likely benign |
NM_016239.4(MYO15A):c.1185dup (p.Glu396fs) |
duplication |
Autosomal recessive nonsyndromic hearing loss 3 [RCV000851286]|Rare genetic deafness [RCV000223213]|not provided [RCV001853427] |
Chr17:18119978..18119979 [GRCh38] Chr17:18023292..18023293 [GRCh37] Chr17:17p11.2 |
pathogenic|likely pathogenic |
NM_016239.4(MYO15A):c.5896C>T (p.Arg1966Ter) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 3 [RCV000762983]|Rare genetic deafness [RCV000214976] |
Chr17:18142826 [GRCh38] Chr17:18046140 [GRCh37] Chr17:17p11.2 |
pathogenic |
NM_016239.4(MYO15A):c.10457C>T (p.Ala3486Val) |
single nucleotide variant |
not specified [RCV000215056] |
Chr17:18173887 [GRCh38] Chr17:18077201 [GRCh37] Chr17:17p11.2 |
likely benign |
NM_016239.4(MYO15A):c.264G>A (p.Thr88=) |
single nucleotide variant |
not provided [RCV002517484]|not specified [RCV000216839] |
Chr17:18119064 [GRCh38] Chr17:18022378 [GRCh37] Chr17:17p11.2 |
likely benign |
NM_016239.4(MYO15A):c.4109G>A (p.Arg1370His) |
single nucleotide variant |
not specified [RCV000216844] |
Chr17:18131309 [GRCh38] Chr17:18034623 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.8088+5C>G |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 3 [RCV000263807]|not provided [RCV002057076]|not specified [RCV000221604] |
Chr17:18153901 [GRCh38] Chr17:18057215 [GRCh37] Chr17:17p11.2 |
benign|likely benign |
NM_016239.4(MYO15A):c.4987G>A (p.Asp1663Asn) |
single nucleotide variant |
not specified [RCV000221695] |
Chr17:18138226 [GRCh38] Chr17:18041540 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.6691+6dup |
duplication |
not specified [RCV000221750] |
Chr17:18148215..18148216 [GRCh38] Chr17:18051529..18051530 [GRCh37] Chr17:17p11.2 |
likely benign |
NM_016239.4(MYO15A):c.1762C>A (p.Arg588=) |
single nucleotide variant |
not specified [RCV000223369] |
Chr17:18120562 [GRCh38] Chr17:18023876 [GRCh37] Chr17:17p11.2 |
likely benign |
NM_016239.4(MYO15A):c.7473+10G>T |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 3 [RCV000391777]|not provided [RCV000892677]|not specified [RCV000215201] |
Chr17:18150923 [GRCh38] Chr17:18054237 [GRCh37] Chr17:17p11.2 |
likely benign|uncertain significance |
NM_016239.4(MYO15A):c.1385G>A (p.Gly462Asp) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 3 [RCV001128290]|not provided [RCV000884205]|not specified [RCV000217005] |
Chr17:18120185 [GRCh38] Chr17:18023499 [GRCh37] Chr17:17p11.2 |
benign|likely benign|conflicting interpretations of pathogenicity |
NM_016239.4(MYO15A):c.7386C>T (p.Ala2462=) |
single nucleotide variant |
not specified [RCV000217067] |
Chr17:18150756 [GRCh38] Chr17:18054070 [GRCh37] Chr17:17p11.2 |
likely benign |
NM_016239.4(MYO15A):c.10403G>A (p.Arg3468Gln) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 3 [RCV000392767]|not provided [RCV001554937]|not specified [RCV000219329] |
Chr17:18173833 [GRCh38] Chr17:18077147 [GRCh37] Chr17:17p11.2 |
benign|likely benign|uncertain significance |
NM_016239.4(MYO15A):c.4769A>G (p.Tyr1590Cys) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 3 [RCV001126509]|not provided [RCV001853467]|not specified [RCV000219352] |
Chr17:18136676 [GRCh38] Chr17:18039990 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.6178-2A>G |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 3 [RCV000227956] |
Chr17:18144495 [GRCh38] Chr17:18047809 [GRCh37] Chr17:17p11.2 |
pathogenic|likely pathogenic |
NM_016239.4(MYO15A):c.4108C>T (p.Arg1370Cys) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 3 [RCV000229545]|not provided [RCV001762553]|not specified [RCV000825969] |
Chr17:18131308 [GRCh38] Chr17:18034622 [GRCh37] Chr17:17p11.2 |
pathogenic|uncertain significance |
NM_016239.4(MYO15A):c.5809C>T (p.Arg1937Cys) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 3 [RCV000230123]|not provided [RCV003233511] |
Chr17:18142238 [GRCh38] Chr17:18045552 [GRCh37] Chr17:17p11.2 |
pathogenic|uncertain significance |
NM_016239.4(MYO15A):c.6589C>T (p.Gln2197Ter) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 3 [RCV000230303] |
Chr17:18148108 [GRCh38] Chr17:18051422 [GRCh37] Chr17:17p11.2 |
pathogenic|uncertain significance |
NC_000017.1:g.18054799_18058246delinsCTCCCCGGAACGGCTGCTGGTAC |
insertion |
Autosomal recessive nonsyndromic hearing loss 3 [RCV000225024] |
Chr17:17p11.2 |
pathogenic |
NM_016239.4(MYO15A):c.7207G>T (p.Asp2403Tyr) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 3 [RCV000225053]|not provided [RCV002288909] |
Chr17:18149575 [GRCh38] Chr17:18052889 [GRCh37] Chr17:17p11.2 |
pathogenic|likely pathogenic |
NM_016239.4(MYO15A):c.6340G>A (p.Val2114Met) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 3 [RCV000225063] |
Chr17:18145938 [GRCh38] Chr17:18049252 [GRCh37] Chr17:17p11.2 |
pathogenic |
NM_016239.4(MYO15A):c.8467G>A (p.Asp2823Asn) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 3 [RCV000225089] |
Chr17:18156202 [GRCh38] Chr17:18059516 [GRCh37] Chr17:17p11.2 |
pathogenic |
NM_016239.4(MYO15A):c.8340G>A (p.Thr2780=) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 3 [RCV000225093] |
Chr17:18155225 [GRCh38] Chr17:18058539 [GRCh37] Chr17:17p11.2 |
pathogenic |
NM_016239.4(MYO15A):c.742C>G (p.Arg248Gly) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 3 [RCV000231728] |
Chr17:18119542 [GRCh38] Chr17:18022856 [GRCh37] Chr17:17p11.2 |
pathogenic|likely pathogenic |
NM_016239.4(MYO15A):c.3023C>G (p.Thr1008Ser) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 3 [RCV000310430]|not provided [RCV000969313]|not specified [RCV000356908] |
Chr17:18121823 [GRCh38] Chr17:18025137 [GRCh37] Chr17:17p11.2 |
benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_016239.4(MYO15A):c.6146C>A (p.Pro2049His) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 3 [RCV000233062] |
Chr17:18143969 [GRCh38] Chr17:18047283 [GRCh37] Chr17:17p11.2 |
pathogenic |
NM_016239.4(MYO15A):c.4780G>C (p.Asp1594His) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 3 [RCV000233468] |
Chr17:18137584 [GRCh38] Chr17:18040898 [GRCh37] Chr17:17p11.2 |
pathogenic |
NM_016239.4(MYO15A):c.3944G>A (p.Gly1315Glu) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 3 [RCV000226627] |
Chr17:18127077 [GRCh38] Chr17:18030391 [GRCh37] Chr17:17p11.2 |
pathogenic|likely pathogenic |
NM_016239.4(MYO15A):c.5335del (p.Leu1779fs) |
deletion |
Autosomal recessive nonsyndromic hearing loss 3 [RCV000227379] |
Chr17:18140639 [GRCh38] Chr17:18043953 [GRCh37] Chr17:17p11.2 |
pathogenic |
NM_016239.4(MYO15A):c.3358C>T (p.Arg1120Cys) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 3 [RCV000757539]|not provided [RCV001855894] |
Chr17:18122158 [GRCh38] Chr17:18025472 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.6550T>C (p.Cys2184Arg) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 3 [RCV000756403] |
Chr17:18148069 [GRCh38] Chr17:18051383 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.7400G>A (p.Arg2467Gln) |
single nucleotide variant |
not specified [RCV000599785] |
Chr17:18150840 [GRCh38] Chr17:18054154 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.4888C>T (p.Arg1630Cys) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 3 [RCV000312671]|Childhood onset hearing loss [RCV001543604]|not provided [RCV000959372]|not specified [RCV000323567] |
Chr17:18138127 [GRCh38] Chr17:18041441 [GRCh37] Chr17:17p11.2 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
GRCh37/hg19 17p12-11.2(chr17:15767020-20261250)x3 |
copy number gain |
See cases [RCV000240104] |
Chr17:15767020..20261250 [GRCh37] Chr17:17p12-11.2 |
pathogenic |
NM_016239.4(MYO15A):c.6980C>T (p.Ser2327Leu) |
single nucleotide variant |
not provided [RCV000519334] |
Chr17:18149239 [GRCh38] Chr17:18052553 [GRCh37] Chr17:17p11.2 |
uncertain significance |
GRCh37/hg19 17p11.2(chr17:17053390-19893098)x1 |
copy number loss |
See cases [RCV000239910] |
Chr17:17053390..19893098 [GRCh37] Chr17:17p11.2 |
pathogenic |
NM_016239.4(MYO15A):c.6046+18G>A |
single nucleotide variant |
not specified [RCV000251126] |
Chr17:18143814 [GRCh38] Chr17:18047128 [GRCh37] Chr17:17p11.2 |
likely benign |
GRCh37/hg19 17p11.2(chr17:16654302-20261250)x1 |
copy number loss |
See cases [RCV000240274] |
Chr17:16654302..20261250 [GRCh37] Chr17:17p11.2 |
pathogenic |
NM_016239.4(MYO15A):c.7655-17G>A |
single nucleotide variant |
not provided [RCV001660333]|not specified [RCV000247288] |
Chr17:18151378 [GRCh38] Chr17:18054692 [GRCh37] Chr17:17p11.2 |
benign |
NM_016239.4(MYO15A):c.54G>A (p.Lys18=) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 3 [RCV001122475]|not provided [RCV000726060]|not specified [RCV000245052] |
Chr17:18118854 [GRCh38] Chr17:18022168 [GRCh37] Chr17:17p11.2 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_016239.4(MYO15A):c.1854C>T (p.Asp618=) |
single nucleotide variant |
not specified [RCV000247834] |
Chr17:18120654 [GRCh38] Chr17:18023968 [GRCh37] Chr17:17p11.2 |
likely benign |
NM_016239.4(MYO15A):c.894C>G (p.Pro298=) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 3 [RCV000282224] |
Chr17:18119694 [GRCh38] Chr17:18023008 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.9792G>A (p.Gln3264=) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 3 [RCV000283316]|not provided [RCV000832789]|not specified [RCV000600296] |
Chr17:18166365 [GRCh38] Chr17:18069679 [GRCh37] Chr17:17p11.2 |
benign|likely benign|uncertain significance |
NM_016239.4(MYO15A):c.671A>G (p.Tyr224Cys) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 3 [RCV000283672] |
Chr17:18119471 [GRCh38] Chr17:18022785 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.2020C>T (p.Pro674Ser) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 3 [RCV000267604]|not provided [RCV000902792] |
Chr17:18120820 [GRCh38] Chr17:18024134 [GRCh37] Chr17:17p11.2 |
benign|likely benign|uncertain significance |
NM_016239.4(MYO15A):c.8816G>A (p.Arg2939His) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 3 [RCV000304083]|Inborn genetic diseases [RCV002522920]|not provided [RCV001582964]|not specified [RCV000614865] |
Chr17:18157749 [GRCh38] Chr17:18061063 [GRCh37] Chr17:17p11.2 |
likely benign|uncertain significance |
NM_016239.4(MYO15A):c.3623G>A (p.Arg1208His) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 3 [RCV000304539]|not provided [RCV003326409] |
Chr17:18124496 [GRCh38] Chr17:18027810 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.*747T>C |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 3 [RCV000268377] |
Chr17:18179617 [GRCh38] Chr17:18082931 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.-76A>C |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 3 [RCV000272134]|not provided [RCV001675815] |
Chr17:18118725 [GRCh38] Chr17:18022039 [GRCh37] Chr17:17p11.2 |
benign|likely benign |
NM_016239.4(MYO15A):c.*612C>G |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 3 [RCV000272312] |
Chr17:18179482 [GRCh38] Chr17:18082796 [GRCh37] Chr17:17p11.2 |
benign|likely benign |
NM_016239.4(MYO15A):c.484C>T (p.Arg162Cys) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 3 [RCV000289712]|not provided [RCV001551433] |
Chr17:18119284 [GRCh38] Chr17:18022598 [GRCh37] Chr17:17p11.2 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_016239.4(MYO15A):c.4142+12C>G |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 3 [RCV000290782] |
Chr17:18131354 [GRCh38] Chr17:18034668 [GRCh37] Chr17:17p11.2 |
likely benign|uncertain significance |
NM_016239.4(MYO15A):c.4038+6_4038+7insTG |
insertion |
Nonsyndromic Hearing Loss, Recessive [RCV000274657] |
Chr17:18130816..18130817 [GRCh38] Chr17:18034130..18034131 [GRCh37] Chr17:17p11.2 |
likely benign|uncertain significance |
NM_016239.4(MYO15A):c.8225-13T>C |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 3 [RCV000292858] |
Chr17:18155097 [GRCh38] Chr17:18058411 [GRCh37] Chr17:17p11.2 |
likely benign|uncertain significance |
NM_016239.4(MYO15A):c.7436A>G (p.Gln2479Arg) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 3 [RCV000293544]|not provided [RCV002522919]|not specified [RCV000610556] |
Chr17:18150876 [GRCh38] Chr17:18054190 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.6012G>A (p.Pro2004=) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 3 [RCV000276208] |
Chr17:18143762 [GRCh38] Chr17:18047076 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.9602G>A (p.Arg3201Gln) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 3 [RCV000276008]|Inborn genetic diseases [RCV002522921] |
Chr17:18162669 [GRCh38] Chr17:18065983 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.4038+8GT[29] |
microsatellite |
Nonsyndromic Hearing Loss, Recessive [RCV000294473]|not provided [RCV001672534] |
Chr17:18130817..18130818 [GRCh38] Chr17:18034131..18034132 [GRCh37] Chr17:17p11.2 |
benign|uncertain significance |
NM_016239.3(MYO15A):c.-327C>T |
single nucleotide variant |
Nonsyndromic Hearing Loss, Recessive [RCV000260172] |
Chr17:18108717 [GRCh38] Chr17:18012031 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.-203C>T |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 3 [RCV000276945]|not provided [RCV001568775] |
Chr17:18118598 [GRCh38] Chr17:18021912 [GRCh37] Chr17:17p11.2 |
likely benign|uncertain significance |
NM_016239.4(MYO15A):c.-227G>A |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 3 [RCV000299033] |
Chr17:18108817 [GRCh38] Chr17:18012131 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.2287C>T (p.Arg763Trp) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 3 [RCV000319567]|Inborn genetic diseases [RCV002521097]|not provided [RCV002521096] |
Chr17:18121087 [GRCh38] Chr17:18024401 [GRCh37] Chr17:17p11.2 |
likely benign|uncertain significance |
NM_016239.4(MYO15A):c.4597-9C>T |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 3 [RCV000342181]|not provided [RCV001566690] |
Chr17:18136408 [GRCh38] Chr17:18039722 [GRCh37] Chr17:17p11.2 |
likely benign|uncertain significance |
NM_016239.4(MYO15A):c.9948+11G>C |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 3 [RCV000343107]|not provided [RCV002061219] |
Chr17:18166532 [GRCh38] Chr17:18069846 [GRCh37] Chr17:17p11.2 |
benign|uncertain significance |
NM_016239.4(MYO15A):c.7550C>G (p.Thr2517Ser) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 3 [RCV000365435]|not provided [RCV000888922] |
Chr17:18151186 [GRCh38] Chr17:18054500 [GRCh37] Chr17:17p11.2 |
likely benign|uncertain significance |
NM_016239.4(MYO15A):c.3012A>G (p.Ser1004=) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 3 [RCV000390808]|not provided [RCV001660660]|not specified [RCV000613260] |
Chr17:18121812 [GRCh38] Chr17:18025126 [GRCh37] Chr17:17p11.2 |
likely benign|uncertain significance |
NM_016239.4(MYO15A):c.1791G>A (p.Ala597=) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 3 [RCV000268992]|not provided [RCV000969312]|not specified [RCV000613742] |
Chr17:18120591 [GRCh38] Chr17:18023905 [GRCh37] Chr17:17p11.2 |
benign|likely benign|uncertain significance |
NM_016239.4(MYO15A):c.3989G>A (p.Arg1330His) |
single nucleotide variant |
not provided [RCV000268390] |
Chr17:18127122 [GRCh38] Chr17:18030436 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.6634G>A (p.Glu2212Lys) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 3 [RCV002224965]|not provided [RCV000270527]|not specified [RCV003330628] |
Chr17:18148153 [GRCh38] Chr17:18051467 [GRCh37] Chr17:17p11.2 |
likely pathogenic|uncertain significance |
NM_016239.4(MYO15A):c.6274-10C>T |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 3 [RCV000322143]|not provided [RCV000897523]|not specified [RCV000601103] |
Chr17:18145862 [GRCh38] Chr17:18049176 [GRCh37] Chr17:17p11.2 |
benign|uncertain significance |
NM_016239.4(MYO15A):c.8431G>A (p.Gly2811Arg) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 3 [RCV000392531] |
Chr17:18155404 [GRCh38] Chr17:18058718 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.6559C>T (p.Arg2187Cys) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 3 [RCV000358118] |
Chr17:18148078 [GRCh38] Chr17:18051392 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.932A>C (p.Asp311Ala) |
single nucleotide variant |
not provided [RCV000304901] |
Chr17:18119732 [GRCh38] Chr17:18023046 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.730G>A (p.Asp244Asn) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 3 [RCV001126234]|not provided [RCV000725020] |
Chr17:18119530 [GRCh38] Chr17:18022844 [GRCh37] Chr17:17p11.2 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_016239.4(MYO15A):c.1323G>A (p.Ala441=) |
single nucleotide variant |
not provided [RCV000375536] |
Chr17:18120123 [GRCh38] Chr17:18023437 [GRCh37] Chr17:17p11.2 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_016239.4(MYO15A):c.*628C>G |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 3 [RCV000322458] |
Chr17:18179498 [GRCh38] Chr17:18082812 [GRCh37] Chr17:17p11.2 |
likely benign|uncertain significance |
NM_016239.4(MYO15A):c.6689A>G (p.Asn2230Ser) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 3 [RCV000323318] |
Chr17:18148208 [GRCh38] Chr17:18051522 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.642C>T (p.Phe214=) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 3 [RCV000323511]|not specified [RCV000825788] |
Chr17:18119442 [GRCh38] Chr17:18022756 [GRCh37] Chr17:17p11.2 |
likely benign|uncertain significance |
NM_016239.4(MYO15A):c.2259G>T (p.Ala753=) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 3 [RCV000280437] |
Chr17:18121059 [GRCh38] Chr17:18024373 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.*117C>A |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 3 [RCV000370420] |
Chr17:18178987 [GRCh38] Chr17:18082301 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.5965-8C>T |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 3 [RCV000370537]|not provided [RCV000902356] |
Chr17:18143707 [GRCh38] Chr17:18047021 [GRCh37] Chr17:17p11.2 |
likely benign|uncertain significance |
NM_016239.4(MYO15A):c.1602C>T (p.Phe534=) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 3 [RCV000396225]|not provided [RCV001566209]|not specified [RCV000825789] |
Chr17:18120402 [GRCh38] Chr17:18023716 [GRCh37] Chr17:17p11.2 |
benign|likely benign|uncertain significance |
NM_016239.4(MYO15A):c.5007+7C>T |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 3 [RCV000277670]|not provided [RCV000896045] |
Chr17:18138253 [GRCh38] Chr17:18041567 [GRCh37] Chr17:17p11.2 |
likely benign|uncertain significance |
NM_016239.4(MYO15A):c.-219-14T>C |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 3 [RCV000370147]|not provided [RCV001613033] |
Chr17:18118568 [GRCh38] Chr17:18021882 [GRCh37] Chr17:17p11.2 |
benign|likely benign |
NM_016239.4(MYO15A):c.7786A>G (p.Arg2596Gly) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 3 [RCV000302655] |
Chr17:18151526 [GRCh38] Chr17:18054840 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.2680C>T (p.Pro894Ser) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 3 [RCV001128384]|not provided [RCV000959371]|not specified [RCV000344724] |
Chr17:18121480 [GRCh38] Chr17:18024794 [GRCh37] Chr17:17p11.2 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_016239.4(MYO15A):c.*920G>A |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 3 [RCV000373721] |
Chr17:18179790 [GRCh38] Chr17:18083104 [GRCh37] Chr17:17p11.2 |
benign|likely benign |
NM_016239.4(MYO15A):c.8108G>C (p.Ser2703Thr) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 3 [RCV000318593] |
Chr17:18154150 [GRCh38] Chr17:18057464 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.4623G>A (p.Thr1541=) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 3 [RCV001002063]|not provided [RCV000312691] |
Chr17:18136443 [GRCh38] Chr17:18039757 [GRCh37] Chr17:17p11.2 |
benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_016239.4(MYO15A):c.*497G>C |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 3 [RCV000307410] |
Chr17:18179367 [GRCh38] Chr17:18082681 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.5224C>T (p.Leu1742Phe) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 3 [RCV000328698] |
Chr17:18140529 [GRCh38] Chr17:18043843 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.7396-8C>G |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 3 [RCV000374597]|not provided [RCV000488028]|not specified [RCV000599829] |
Chr17:18150828 [GRCh38] Chr17:18054142 [GRCh37] Chr17:17p11.2 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_016239.4(MYO15A):c.877G>A (p.Asp293Asn) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 3 [RCV003129821]|Inborn genetic diseases [RCV002521936]|not provided [RCV000281935] |
Chr17:18119677 [GRCh38] Chr17:18022991 [GRCh37] Chr17:17p11.2 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_016239.4(MYO15A):c.-33G>C |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 3 [RCV000329538] |
Chr17:18118768 [GRCh38] Chr17:18022082 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.-173T>A |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 3 [RCV000329622] |
Chr17:18118628 [GRCh38] Chr17:18021942 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.4038+8GT[30] |
microsatellite |
Nonsyndromic Hearing Loss, Recessive [RCV000344791]|not provided [RCV001660661] |
Chr17:18130817..18130818 [GRCh38] Chr17:18034131..18034132 [GRCh37] Chr17:17p11.2 |
benign|uncertain significance |
NM_016239.4(MYO15A):c.7547C>T (p.Ala2516Val) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 3 [RCV001002758]|not provided [RCV001753782] |
Chr17:18151183 [GRCh38] Chr17:18054497 [GRCh37] Chr17:17p11.2 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_016239.4(MYO15A):c.8050T>C (p.Tyr2684His) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 3 [RCV000353974]|not provided [RCV000418317]|not specified [RCV000607828] |
Chr17:18153858 [GRCh38] Chr17:18057172 [GRCh37] Chr17:17p11.2 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
NM_016239.4(MYO15A):c.9772G>A (p.Val3258Ile) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 3 [RCV000377879]|not provided [RCV000992400] |
Chr17:18163823 [GRCh38] Chr17:18067137 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.10128G>A (p.Thr3376=) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 3 [RCV000379015] |
Chr17:18171683 [GRCh38] Chr17:18074997 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.3591G>A (p.Pro1197=) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 3 [RCV000403822]|not provided [RCV000983662]|not specified [RCV000825790] |
Chr17:18122391 [GRCh38] Chr17:18025705 [GRCh37] Chr17:17p11.2 |
benign|likely benign|uncertain significance |
NM_016239.4(MYO15A):c.5315C>T (p.Ala1772Val) |
single nucleotide variant |
not provided [RCV000284931] |
Chr17:18140620 [GRCh38] Chr17:18043934 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.3757-13G>A |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 3 [RCV000355997] |
Chr17:18126334 [GRCh38] Chr17:18029648 [GRCh37] Chr17:17p11.2 |
likely benign|uncertain significance |
NM_016239.4(MYO15A):c.5649+13C>T |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 3 [RCV000379639] |
Chr17:18141783 [GRCh38] Chr17:18045097 [GRCh37] Chr17:17p11.2 |
likely benign|uncertain significance |
NM_016239.4(MYO15A):c.*714G>A |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 3 [RCV000379418] |
Chr17:18179584 [GRCh38] Chr17:18082898 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.7633G>T (p.Asp2545Tyr) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 3 [RCV001002759] |
Chr17:18151269 [GRCh38] Chr17:18054583 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.8239G>A (p.Asp2747Asn) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 3 [RCV000333765]|not provided [RCV002521098]|not specified [RCV000825967] |
Chr17:18155124 [GRCh38] Chr17:18058438 [GRCh37] Chr17:17p11.2 |
likely benign|uncertain significance |
NM_016239.4(MYO15A):c.6178-1G>A |
single nucleotide variant |
not provided [RCV000361530] |
Chr17:18144496 [GRCh38] Chr17:18047810 [GRCh37] Chr17:17p11.2 |
pathogenic |
NM_016239.4(MYO15A):c.4038+6_4038+7insTCAG |
insertion |
Nonsyndromic Hearing Loss, Recessive [RCV000373539] |
Chr17:18130816..18130817 [GRCh38] Chr17:18034130..18034131 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.8148+15C>G |
single nucleotide variant |
Nonsyndromic Hearing Loss, Recessive [RCV000387152] |
Chr17:18154205 [GRCh38] Chr17:18057519 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.1941A>C (p.Pro647=) |
single nucleotide variant |
not provided [RCV000959370]|not specified [RCV000289643] |
Chr17:18120741 [GRCh38] Chr17:18024055 [GRCh37] Chr17:17p11.2 |
benign|likely benign |
NM_016239.4(MYO15A):c.9665G>A (p.Arg3222His) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 3 [RCV000381218]|Inborn genetic diseases [RCV002522922]|not provided [RCV002251465] |
Chr17:18163296 [GRCh38] Chr17:18066610 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.447G>C (p.Ser149=) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 3 [RCV000381712]|not provided [RCV000943414] |
Chr17:18119247 [GRCh38] Chr17:18022561 [GRCh37] Chr17:17p11.2 |
likely benign|uncertain significance |
NM_016239.4(MYO15A):c.10555C>T (p.Arg3519Trp) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 3 [RCV000405492] |
Chr17:18178832 [GRCh38] Chr17:18082146 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.4038+8GT[28] |
microsatellite |
Nonsyndromic Hearing Loss, Recessive [RCV000388883]|not provided [RCV001672533] |
Chr17:18130817..18130818 [GRCh38] Chr17:18034131..18034132 [GRCh37] Chr17:17p11.2 |
benign|uncertain significance |
NM_016239.4(MYO15A):c.1634C>T (p.Ala545Val) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 3 [RCV000312918]|not provided [RCV000914617]|not specified [RCV000825785] |
Chr17:18120434 [GRCh38] Chr17:18023748 [GRCh37] Chr17:17p11.2 |
benign|likely benign|uncertain significance |
NM_016239.4(MYO15A):c.*68A>C |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 3 [RCV000313382] |
Chr17:18178938 [GRCh38] Chr17:18082252 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.901C>G (p.Pro301Ala) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 3 [RCV000334898] |
Chr17:18119701 [GRCh38] Chr17:18023015 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.10395G>T (p.Arg3465=) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 3 [RCV000335043]|not provided [RCV000923591] |
Chr17:18173825 [GRCh38] Chr17:18077139 [GRCh37] Chr17:17p11.2 |
likely benign|uncertain significance |
NM_016239.4(MYO15A):c.5210G>A (p.Arg1737Gln) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 3 [RCV000382691]|not specified [RCV001195239] |
Chr17:18139610 [GRCh38] Chr17:18042924 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.7502C>T (p.Thr2501Met) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 3 [RCV000294556] |
Chr17:18151138 [GRCh38] Chr17:18054452 [GRCh37] Chr17:17p11.2 |
likely benign|uncertain significance |
NM_016239.4(MYO15A):c.1418T>G (p.Leu473Arg) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 3 [RCV000314057]|not provided [RCV001850719]|not specified [RCV001195236] |
Chr17:18120218 [GRCh38] Chr17:18023532 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.4142+6T>C |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 3 [RCV000385209]|not provided [RCV001552335]|not specified [RCV000609727] |
Chr17:18131348 [GRCh38] Chr17:18034662 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.1196A>G (p.Tyr399Cys) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 3 [RCV000477889]|not provided [RCV000261880] |
Chr17:18119996 [GRCh38] Chr17:18023310 [GRCh37] Chr17:17p11.2 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_016239.4(MYO15A):c.*837T>G |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 3 [RCV000316478] |
Chr17:18179707 [GRCh38] Chr17:18083021 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.3652C>G (p.Gln1218Glu) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 3 [RCV000361765] |
Chr17:18124525 [GRCh38] Chr17:18027839 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.-144G>A |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 3 [RCV000386457] |
Chr17:18118657 [GRCh38] Chr17:18021971 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.4875+11C>T |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 3 [RCV000262272] |
Chr17:18137690 [GRCh38] Chr17:18041004 [GRCh37] Chr17:17p11.2 |
likely benign|uncertain significance |
NM_016239.4(MYO15A):c.10442C>T (p.Ala3481Val) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 3 [RCV000348491] |
Chr17:18173872 [GRCh38] Chr17:18077186 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.858C>G (p.Pro286=) |
single nucleotide variant |
not provided [RCV000725656] |
Chr17:18119658 [GRCh38] Chr17:18022972 [GRCh37] Chr17:17p11.2 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_016239.4(MYO15A):c.5603G>A (p.Arg1868His) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 3 [RCV000339103]|not provided [RCV001660662] |
Chr17:18141724 [GRCh38] Chr17:18045038 [GRCh37] Chr17:17p11.2 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_016239.4(MYO15A):c.3140C>A (p.Pro1047His) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 3 [RCV000362767] |
Chr17:18121940 [GRCh38] Chr17:18025254 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.2855G>A (p.Gly952Asp) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 3 [RCV000349770] |
Chr17:18121655 [GRCh38] Chr17:18024969 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.4207-12C>T |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 3 [RCV000405574]|not provided [RCV002056566] |
Chr17:18132441 [GRCh38] Chr17:18035755 [GRCh37] Chr17:17p11.2 |
likely benign|uncertain significance |
NM_016239.4(MYO15A):c.7838C>A (p.Ala2613Asp) |
single nucleotide variant |
not provided [RCV000298840] |
Chr17:18151896 [GRCh38] Chr17:18055210 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.5651T>A (p.Leu1884Gln) |
single nucleotide variant |
not provided [RCV000334514] |
Chr17:18142080 [GRCh38] Chr17:18045394 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.1414T>A (p.Ser472Thr) |
single nucleotide variant |
not provided [RCV000725030]|not specified [RCV000404439] |
Chr17:18120214 [GRCh38] Chr17:18023528 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.*166C>A |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 3 [RCV000268705] |
Chr17:18179036 [GRCh38] Chr17:18082350 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.723C>T (p.Asp241=) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 3 [RCV000341048] |
Chr17:18119523 [GRCh38] Chr17:18022837 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.8895C>T (p.Arg2965=) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 3 [RCV000354137]|not provided [RCV002056567] |
Chr17:18157828 [GRCh38] Chr17:18061142 [GRCh37] Chr17:17p11.2 |
benign|uncertain significance |
NM_016239.4(MYO15A):c.4030C>T (p.Gln1344Ter) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 3 [RCV001374671] |
Chr17:18127163 [GRCh38] Chr17:18030477 [GRCh37] Chr17:17p11.2 |
likely pathogenic |
NM_016239.4(MYO15A):c.9538_9539del (p.Gln3180fs) |
deletion |
not provided [RCV000522605] |
Chr17:18162605..18162606 [GRCh38] Chr17:18065919..18065920 [GRCh37] Chr17:17p11.2 |
pathogenic |
NM_016239.4(MYO15A):c.6510-254C>T |
single nucleotide variant |
not provided [RCV001547177] |
Chr17:18147775 [GRCh38] Chr17:18051089 [GRCh37] Chr17:17p11.2 |
likely benign |
NM_016239.4(MYO15A):c.5964+3G>A |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 3 [RCV002224977]|not provided [RCV001567720] |
Chr17:18143622 [GRCh38] Chr17:18046936 [GRCh37] Chr17:17p11.2 |
pathogenic|likely benign |
NM_016239.4(MYO15A):c.8194G>A (p.Asp2732Asn) |
single nucleotide variant |
not provided [RCV003321311] |
Chr17:18154725 [GRCh38] Chr17:18058039 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.3261C>T (p.Ala1087=) |
single nucleotide variant |
not provided [RCV002531566]|not specified [RCV000603145] |
Chr17:18122061 [GRCh38] Chr17:18025375 [GRCh37] Chr17:17p11.2 |
likely benign |
NM_016239.4(MYO15A):c.4949_4953dup (p.Leu1652fs) |
duplication |
not provided [RCV000488381] |
Chr17:18138183..18138184 [GRCh38] Chr17:18041497..18041498 [GRCh37] Chr17:17p11.2 |
likely pathogenic |
NM_016239.4(MYO15A):c.8528A>G (p.Lys2843Arg) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 3 [RCV001127231]|not provided [RCV001473736]|not specified [RCV000602589] |
Chr17:18156263 [GRCh38] Chr17:18059577 [GRCh37] Chr17:17p11.2 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_016239.4(MYO15A):c.4038+8_4038+9insAGGG |
insertion |
Nonsyndromic Hearing Loss, Recessive [RCV000329696] |
Chr17:18130817..18130818 [GRCh38] Chr17:18034131..18034132 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.655T>G (p.Ser219Ala) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 3 [RCV000380368] |
Chr17:18119455 [GRCh38] Chr17:18022769 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.5193C>T (p.Phe1731=) |
single nucleotide variant |
not provided [RCV000596427] |
Chr17:18139593 [GRCh38] Chr17:18042907 [GRCh37] Chr17:17p11.2 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_016239.4(MYO15A):c.*515C>G |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 3 [RCV000364553] |
Chr17:18179385 [GRCh38] Chr17:18082699 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.5058C>A (p.Asn1686Lys) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 3 [RCV000332667] |
Chr17:18138861 [GRCh38] Chr17:18042175 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.1162G>A (p.Gly388Arg) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 3 [RCV000403509] |
Chr17:18119962 [GRCh38] Chr17:18023276 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.8443G>A (p.Val2815Ile) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 3 [RCV000284159] |
Chr17:18155416 [GRCh38] Chr17:18058730 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.5709T>A (p.Asn1903Lys) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 3 [RCV000335444] |
Chr17:18142138 [GRCh38] Chr17:18045452 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.4611G>T (p.Glu1537Asp) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 3 [RCV000405851] |
Chr17:18136431 [GRCh38] Chr17:18039745 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.9083+7G>A |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 3 [RCV000406649] |
Chr17:18158645 [GRCh38] Chr17:18061959 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.2670C>T (p.Pro890=) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 3 [RCV000407928] |
Chr17:18121470 [GRCh38] Chr17:18024784 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.2258_2259del (p.Ala753fs) |
deletion |
not provided [RCV000597804] |
Chr17:18121057..18121058 [GRCh38] Chr17:18024371..18024372 [GRCh37] Chr17:17p11.2 |
pathogenic |
NM_016239.4(MYO15A):c.1450C>G (p.Gln484Glu) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 3 [RCV000371081] |
Chr17:18120250 [GRCh38] Chr17:18023564 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.6863C>T (p.Ser2288Leu) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 3 [RCV000373305]|Rare genetic deafness [RCV000604391]|not provided [RCV003238755] |
Chr17:18148859 [GRCh38] Chr17:18052173 [GRCh37] Chr17:17p11.2 |
likely pathogenic|uncertain significance |
NM_016239.4(MYO15A):c.9494G>A (p.Arg3165Gln) |
single nucleotide variant |
not specified [RCV000605376] |
Chr17:18161424 [GRCh38] Chr17:18064738 [GRCh37] Chr17:17p11.2 |
likely benign |
NM_016239.4(MYO15A):c.9157-9C>A |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 3 [RCV000300481] |
Chr17:18159266 [GRCh38] Chr17:18062580 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.8341-2A>C |
single nucleotide variant |
Rare genetic deafness [RCV000615114] |
Chr17:18155312 [GRCh38] Chr17:18058626 [GRCh37] Chr17:17p11.2 |
pathogenic |
NM_016239.4(MYO15A):c.9160C>G (p.Pro3054Ala) |
single nucleotide variant |
Inborn genetic diseases [RCV002532726]|not provided [RCV002532727]|not specified [RCV000600214] |
Chr17:18159278 [GRCh38] Chr17:18062592 [GRCh37] Chr17:17p11.2 |
likely benign|uncertain significance |
NM_016239.4(MYO15A):c.7926G>A (p.Pro2642=) |
single nucleotide variant |
not provided [RCV001564231]|not specified [RCV000600680] |
Chr17:18152144 [GRCh38] Chr17:18055458 [GRCh37] Chr17:17p11.2 |
likely benign |
NM_016239.4(MYO15A):c.6720C>G (p.Ser2240=) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 3 [RCV001124057]|not specified [RCV000606127] |
Chr17:18148524 [GRCh38] Chr17:18051838 [GRCh37] Chr17:17p11.2 |
likely benign|uncertain significance |
NM_016239.4(MYO15A):c.2019G>T (p.Gly673=) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 3 [RCV000360231] |
Chr17:18120819 [GRCh38] Chr17:18024133 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.6440dup (p.Trp2148fs) |
duplication |
Inborn genetic diseases [RCV000622897] |
Chr17:18146034..18146035 [GRCh38] Chr17:18049348..18049349 [GRCh37] Chr17:17p11.2 |
pathogenic |
NM_016239.4(MYO15A):c.3842G>C (p.Gly1281Ala) |
single nucleotide variant |
not specified [RCV000606472] |
Chr17:18126432 [GRCh38] Chr17:18029746 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.5060C>T (p.Pro1687Leu) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 3 [RCV001000757]|not provided [RCV000598477] |
Chr17:18138863 [GRCh38] Chr17:18042177 [GRCh37] Chr17:17p11.2 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_016239.4(MYO15A):c.6787G>A (p.Gly2263Ser) |
single nucleotide variant |
not provided [RCV001662646]|not specified [RCV000606038] |
Chr17:18148783 [GRCh38] Chr17:18052097 [GRCh37] Chr17:17p11.2 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_016239.4(MYO15A):c.534C>T (p.Ala178=) |
single nucleotide variant |
not provided [RCV000730496] |
Chr17:18119334 [GRCh38] Chr17:18022648 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.6691+7T>C |
single nucleotide variant |
not specified [RCV000601692] |
Chr17:18148217 [GRCh38] Chr17:18051531 [GRCh37] Chr17:17p11.2 |
likely benign |
NM_016239.4(MYO15A):c.5305_5306dup (p.Val1770fs) |
microsatellite |
not provided [RCV000598723] |
Chr17:18140606..18140607 [GRCh38] Chr17:18043920..18043921 [GRCh37] Chr17:17p11.2 |
pathogenic |
NM_016239.4(MYO15A):c.8841G>A (p.Leu2947=) |
single nucleotide variant |
not provided [RCV000842023]|not specified [RCV000596759] |
Chr17:18157774 [GRCh38] Chr17:18061088 [GRCh37] Chr17:17p11.2 |
benign|likely benign |
NM_016239.4(MYO15A):c.3841G>A (p.Gly1281Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV002532421]|not provided [RCV000592958] |
Chr17:18126431 [GRCh38] Chr17:18029745 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.7655-7C>G |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 3 [RCV003117371]|not provided [RCV002532700]|not specified [RCV000598704] |
Chr17:18151388 [GRCh38] Chr17:18054702 [GRCh37] Chr17:17p11.2 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_016239.4(MYO15A):c.8005dup (p.Thr2669fs) |
duplication |
Autosomal recessive nonsyndromic hearing loss 3 [RCV000735770]|not provided [RCV000599060] |
Chr17:18153812..18153813 [GRCh38] Chr17:18057126..18057127 [GRCh37] Chr17:17p11.2 |
pathogenic|likely pathogenic |
NM_016239.4(MYO15A):c.1137del (p.Tyr380fs) |
deletion |
Autosomal recessive nonsyndromic hearing loss 3 [RCV000779205]|Hearing impairment [RCV001375258]|Nonsyndromic genetic hearing loss [RCV002232560]|Rare genetic deafness [RCV001195292]|not provided [RCV000597925] |
Chr17:18119934 [GRCh38] Chr17:18023248 [GRCh37] Chr17:17p11.2 |
pathogenic|likely pathogenic |
NM_016239.4(MYO15A):c.3505C>T (p.Arg1169Ter) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 3 [RCV000593373]|Hearing loss, autosomal recessive [RCV001291108]|MYO15A-related condition [RCV003403392]|not provided [RCV000726876] |
Chr17:18122305 [GRCh38] Chr17:18025619 [GRCh37] Chr17:17p11.2 |
pathogenic|likely pathogenic |
arr[hg19]17p11.2(16,757,111-20,219,651)x3 |
duplication |
Potocki-Lupski syndrome [RCV000591005] |
Chr17:16757111..20219651 [GRCh37] Chr17:17p11.2 |
pathogenic |
NM_016239.4(MYO15A):c.8134C>A (p.Leu2712Ile) |
single nucleotide variant |
not provided [RCV000591060] |
Chr17:18154176 [GRCh38] Chr17:18057490 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.4198G>C (p.Val1400Leu) |
single nucleotide variant |
not provided [RCV000591075] |
Chr17:18131523 [GRCh38] Chr17:18034837 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.709G>A (p.Asp237Asn) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 3 [RCV001125263]|not provided [RCV001644703]|not specified [RCV000602979] |
Chr17:18119509 [GRCh38] Chr17:18022823 [GRCh37] Chr17:17p11.2 |
benign|likely benign|uncertain significance |
NM_016239.4(MYO15A):c.996C>G (p.Tyr332Ter) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 3 [RCV000762982]|Nonsyndromic genetic hearing loss [RCV002232717]|Rare genetic deafness [RCV000603268]|not provided [RCV001860245] |
Chr17:18119796 [GRCh38] Chr17:18023110 [GRCh37] Chr17:17p11.2 |
pathogenic|likely pathogenic |
NM_016239.4(MYO15A):c.2311del (p.Ser771fs) |
deletion |
Rare genetic deafness [RCV000605984]|not provided [RCV001860234] |
Chr17:18121111 [GRCh38] Chr17:18024425 [GRCh37] Chr17:17p11.2 |
pathogenic |
NM_016239.4(MYO15A):c.9913G>A (p.Glu3305Lys) |
single nucleotide variant |
not provided [RCV000523960] |
Chr17:18166486 [GRCh38] Chr17:18069800 [GRCh37] Chr17:17p11.2 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_016239.4(MYO15A):c.6357G>A (p.Ala2119=) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 3 [RCV001122990]|not provided [RCV000730176] |
Chr17:18145955 [GRCh38] Chr17:18049269 [GRCh37] Chr17:17p11.2 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_016239.4(MYO15A):c.10312A>G (p.Asn3438Asp) |
single nucleotide variant |
not provided [RCV000735065] |
Chr17:18172252 [GRCh38] Chr17:18075566 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.1552G>A (p.Glu518Lys) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 3 [RCV001328940]|Inborn genetic diseases [RCV002536532]|not provided [RCV000735066]|not specified [RCV000825792] |
Chr17:18120352 [GRCh38] Chr17:18023666 [GRCh37] Chr17:17p11.2 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_016239.4(MYO15A):c.9539A>G (p.Gln3180Arg) |
single nucleotide variant |
not provided [RCV000728423] |
Chr17:18162606 [GRCh38] Chr17:18065920 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.394A>G (p.Thr132Ala) |
single nucleotide variant |
not provided [RCV000733209] |
Chr17:18119194 [GRCh38] Chr17:18022508 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.6638G>A (p.Trp2213Ter) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 3 [RCV000735769] |
Chr17:18148157 [GRCh38] Chr17:18051471 [GRCh37] Chr17:17p11.2 |
pathogenic |
NM_016239.4(MYO15A):c.3183C>T (p.Leu1061=) |
single nucleotide variant |
not provided [RCV000731551] |
Chr17:18121983 [GRCh38] Chr17:18025297 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.7544G>A (p.Arg2515His) |
single nucleotide variant |
not provided [RCV000729118] |
Chr17:18151180 [GRCh38] Chr17:18054494 [GRCh37] Chr17:17p11.2 |
uncertain significance |
GRCh37/hg19 17p11.2(chr17:16740141-20261191)x3 |
copy number gain |
See cases [RCV000449384] |
Chr17:16740141..20261191 [GRCh37] Chr17:17p11.2 |
pathogenic |
GRCh37/hg19 17p11.2(chr17:16651292-18722974)x1 |
copy number loss |
See cases [RCV000449355] |
Chr17:16651292..18722974 [GRCh37] Chr17:17p11.2 |
pathogenic |
NM_016239.4(MYO15A):c.4240G>A (p.Glu1414Lys) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 3 [RCV000454215]|Hearing impairment [RCV001375262] |
Chr17:18132486 [GRCh38] Chr17:18035800 [GRCh37] Chr17:17p11.2 |
pathogenic|likely pathogenic |
NM_016239.4(MYO15A):c.9572G>A (p.Arg3191His) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 3 [RCV000454294] |
Chr17:18162639 [GRCh38] Chr17:18065953 [GRCh37] Chr17:17p11.2 |
pathogenic |
NM_016239.4(MYO15A):c.1223C>T (p.Ala408Val) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 3 [RCV000454352] |
Chr17:18120023 [GRCh38] Chr17:18023337 [GRCh37] Chr17:17p11.2 |
pathogenic |
GRCh37/hg19 17p12-11.2(chr17:10771948-21510992)x1 |
copy number loss |
See cases [RCV000447345] |
Chr17:10771948..21510992 [GRCh37] Chr17:17p12-11.2 |
pathogenic |
GRCh37/hg19 17p12-11.2(chr17:15745315-20261191)x1 |
copy number loss |
See cases [RCV000446498] |
Chr17:15745315..20261191 [GRCh37] Chr17:17p12-11.2 |
pathogenic |
GRCh37/hg19 17p11.2(chr17:16761814-20304295)x1 |
copy number loss |
See cases [RCV000446300] |
Chr17:16761814..20304295 [GRCh37] Chr17:17p11.2 |
pathogenic |
GRCh37/hg19 17p11.2(chr17:16637902-20261250)x1 |
copy number loss |
See cases [RCV000446465] |
Chr17:16637902..20261250 [GRCh37] Chr17:17p11.2 |
pathogenic |
GRCh37/hg19 17p11.2(chr17:17262786-18250574)x3 |
copy number gain |
See cases [RCV000447624] |
Chr17:17262786..18250574 [GRCh37] Chr17:17p11.2 |
pathogenic |
NM_016239.4(MYO15A):c.8088+6G>A |
single nucleotide variant |
not provided [RCV001698253] |
Chr17:18153902 [GRCh38] Chr17:18057216 [GRCh37] Chr17:17p11.2 |
likely benign |
NM_016239.4(MYO15A):c.4176C>A (p.Tyr1392Ter) |
single nucleotide variant |
Nonsyndromic genetic hearing loss [RCV002231209]|not provided [RCV000522918] |
Chr17:18131501 [GRCh38] Chr17:18034815 [GRCh37] Chr17:17p11.2 |
pathogenic |
GRCh37/hg19 17p11.2(chr17:16741771-20430791)x3 |
copy number gain |
See cases [RCV000445753] |
Chr17:16741771..20430791 [GRCh37] Chr17:17p11.2 |
pathogenic |
NM_016239.4(MYO15A):c.3641G>A (p.Arg1214Gln) |
single nucleotide variant |
not provided [RCV000443407] |
Chr17:18124514 [GRCh38] Chr17:18027828 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.9876G>A (p.Trp3292Ter) |
single nucleotide variant |
not provided [RCV000433268] |
Chr17:18166449 [GRCh38] Chr17:18069763 [GRCh37] Chr17:17p11.2 |
pathogenic |
NM_016239.4(MYO15A):c.2194C>T (p.Pro732Ser) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 3 [RCV001000013]|not provided [RCV000727906] |
Chr17:18120994 [GRCh38] Chr17:18024308 [GRCh37] Chr17:17p11.2 |
conflicting interpretations of pathogenicity|uncertain significance |
GRCh37/hg19 17p11.2(chr17:16757564-20261191)x1 |
copy number loss |
See cases [RCV000448145] |
Chr17:16757564..20261191 [GRCh37] Chr17:17p11.2 |
pathogenic |
GRCh37/hg19 17p11.2(chr17:16741411-20304154)x1 |
copy number loss |
See cases [RCV000448636] |
Chr17:16741411..20304154 [GRCh37] Chr17:17p11.2 |
pathogenic |
NM_016239.4(MYO15A):c.4528C>T (p.Gln1510Ter) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 3 [RCV000417183]|Hearing loss, autosomal recessive [RCV001291109] |
Chr17:18135756 [GRCh38] Chr17:18039070 [GRCh37] Chr17:17p11.2 |
pathogenic|likely pathogenic |
NM_016239.4(MYO15A):c.10572dup (p.Ser3525fs) |
duplication |
Autosomal recessive nonsyndromic hearing loss 3 [RCV000417125] |
Chr17:18178843..18178844 [GRCh38] Chr17:18082157..18082158 [GRCh37] Chr17:17p11.2 |
pathogenic |
NM_016239.4(MYO15A):c.6944del (p.Gly2315fs) |
deletion |
Autosomal recessive nonsyndromic hearing loss 3 [RCV000417129] |
Chr17:18148937 [GRCh38] Chr17:18052251 [GRCh37] Chr17:17p11.2 |
pathogenic |
NM_016239.4(MYO15A):c.10209delinsCCAGGCCCGTGCAGCTC (p.Gln3403fs) |
indel |
Autosomal recessive nonsyndromic hearing loss 3 [RCV000417137] |
Chr17:18171764 [GRCh38] Chr17:18075078 [GRCh37] Chr17:17p11.2 |
likely pathogenic |
NM_016239.4(MYO15A):c.8224+3A>G |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 3 [RCV000417149]|Hearing loss, autosomal recessive [RCV001291112] |
Chr17:18154758 [GRCh38] Chr17:18058072 [GRCh37] Chr17:17p11.2 |
likely pathogenic|uncertain significance |
NM_016239.4(MYO15A):c.9229+2T>C |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 3 [RCV000417166] |
Chr17:18159349 [GRCh38] Chr17:18062663 [GRCh37] Chr17:17p11.2 |
pathogenic |
NM_016239.4(MYO15A):c.3932T>C (p.Ile1311Thr) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 3 [RCV000417169] |
Chr17:18126856 [GRCh38] Chr17:18030170 [GRCh37] Chr17:17p11.2 |
likely pathogenic |
GRCh37/hg19 17p11.2(chr17:16741411-20449523)x1 |
copy number loss |
See cases [RCV000448404] |
Chr17:16741411..20449523 [GRCh37] Chr17:17p11.2 |
pathogenic |
GRCh37/hg19 17p11.2(chr17:16741411-20408379)x1 |
copy number loss |
See cases [RCV000447955] |
Chr17:16741411..20408379 [GRCh37] Chr17:17p11.2 |
pathogenic |
GRCh37/hg19 17p11.2(chr17:16761814-20462723)x1 |
copy number loss |
See cases [RCV000448752] |
Chr17:16761814..20462723 [GRCh37] Chr17:17p11.2 |
pathogenic |
GRCh37/hg19 17p11.2(chr17:16772264-20433502)x3 |
copy number gain |
See cases [RCV000448097] |
Chr17:16772264..20433502 [GRCh37] Chr17:17p11.2 |
pathogenic |
NM_016239.4(MYO15A):c.4032+1G>A |
single nucleotide variant |
not provided [RCV000481248] |
Chr17:18127166 [GRCh38] Chr17:18030480 [GRCh37] Chr17:17p11.2 |
pathogenic |
NM_016239.4(MYO15A):c.6580C>T (p.Arg2194Trp) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 3 [RCV000477772]|not provided [RCV001729610] |
Chr17:18148099 [GRCh38] Chr17:18051413 [GRCh37] Chr17:17p11.2 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_016239.4(MYO15A):c.1721G>C (p.Arg574Pro) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 3 [RCV000477833] |
Chr17:18120521 [GRCh38] Chr17:18023835 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.5055dup (p.Asn1686fs) |
duplication |
Autosomal recessive nonsyndromic hearing loss 3 [RCV000477926] |
Chr17:18138856..18138857 [GRCh38] Chr17:18042170..18042171 [GRCh37] Chr17:17p11.2 |
likely pathogenic |
NM_016239.4(MYO15A):c.625G>T (p.Glu209Ter) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 3 [RCV000477946] |
Chr17:18119425 [GRCh38] Chr17:18022739 [GRCh37] Chr17:17p11.2 |
pathogenic |
NM_016239.4(MYO15A):c.4519C>T (p.Arg1507Ter) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 3 [RCV001782968]|not provided [RCV000483838] |
Chr17:18135747 [GRCh38] Chr17:18039061 [GRCh37] Chr17:17p11.2 |
pathogenic |
NM_016239.4(MYO15A):c.1111C>A (p.Pro371Thr) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 3 [RCV001128287]|Nonsyndromic genetic hearing loss [RCV002230958]|not provided [RCV000755585] |
Chr17:18119911 [GRCh38] Chr17:18023225 [GRCh37] Chr17:17p11.2 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_016239.4(MYO15A):c.574C>T (p.Arg192Cys) |
single nucleotide variant |
not provided [RCV000498954] |
Chr17:18119374 [GRCh38] Chr17:18022688 [GRCh37] Chr17:17p11.2 |
uncertain significance |
GRCh37/hg19 17p11.2(chr17:16745600-20396173)x1 |
copy number loss |
See cases [RCV000510506] |
Chr17:16745600..20396173 [GRCh37] Chr17:17p11.2 |
pathogenic |
GRCh37/hg19 17p11.2(chr17:17200426-21900910)x1 |
copy number loss |
See cases [RCV000510254] |
Chr17:17200426..21900910 [GRCh37] Chr17:17p11.2 |
pathogenic |
GRCh37/hg19 17p11.2(chr17:16761814-20339795)x3 |
copy number gain |
See cases [RCV000510267] |
Chr17:16761814..20339795 [GRCh37] Chr17:17p11.2 |
pathogenic |
NM_016239.4(MYO15A):c.7124_7127del (p.Asp2375fs) |
deletion |
Autosomal recessive nonsyndromic hearing loss 3 [RCV000504331]|Congenital sensorineural hearing impairment [RCV000626936]|Rare genetic deafness [RCV000605806]|not provided [RCV001653861] |
Chr17:18149489..18149492 [GRCh38] Chr17:18052803..18052806 [GRCh37] Chr17:17p11.2 |
pathogenic |
NM_016239.4(MYO15A):c.5962G>A (p.Glu1988Lys) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 3 [RCV001333911]|not provided [RCV000498623] |
Chr17:18143617 [GRCh38] Chr17:18046931 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.9785G>C (p.Arg3262Pro) |
single nucleotide variant |
not provided [RCV001327238]|not specified [RCV000508537] |
Chr17:18163836 [GRCh38] Chr17:18067150 [GRCh37] Chr17:17p11.2 |
uncertain significance |
GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938) |
copy number gain |
See cases [RCV000511439] |
Chr17:526..81041938 [GRCh37] Chr17:17p13.3-q25.3 |
pathogenic |
NM_016239.4(MYO15A):c.9232G>C (p.Val3078Leu) |
single nucleotide variant |
not provided [RCV000493635] |
Chr17:18159608 [GRCh38] Chr17:18062922 [GRCh37] Chr17:17p11.2 |
uncertain significance |
GRCh37/hg19 17p11.2(chr17:16727264-20413564)x1 |
copy number loss |
See cases [RCV000511412] |
Chr17:16727264..20413564 [GRCh37] Chr17:17p11.2 |
pathogenic |
NM_016239.4(MYO15A):c.6728C>T (p.Thr2243Met) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 3 [RCV000505627]|not provided [RCV001857240] |
Chr17:18148532 [GRCh38] Chr17:18051846 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.790C>A (p.Leu264Ile) |
single nucleotide variant |
not provided [RCV000494144] |
Chr17:18119590 [GRCh38] Chr17:18022904 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.1672G>A (p.Gly558Ser) |
single nucleotide variant |
not specified [RCV000505948] |
Chr17:18120472 [GRCh38] Chr17:18023786 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.2065dup (p.Arg689fs) |
duplication |
not specified [RCV000506016] |
Chr17:18120861..18120862 [GRCh38] Chr17:18024175..18024176 [GRCh37] Chr17:17p11.2 |
likely pathogenic |
NM_016239.4(MYO15A):c.10394G>A (p.Arg3465Gln) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 3 [RCV001123271]|not provided [RCV002056908]|not specified [RCV000506047] |
Chr17:18173824 [GRCh38] Chr17:18077138 [GRCh37] Chr17:17p11.2 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
GRCh37/hg19 17p11.2(chr17:16772264-20297091)x1 |
copy number loss |
See cases [RCV000511915] |
Chr17:16772264..20297091 [GRCh37] Chr17:17p11.2 |
pathogenic |
NM_016239.4(MYO15A):c.4976G>A (p.Arg1659Gln) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 3 [RCV001128569]|not provided [RCV000506255] |
Chr17:18138215 [GRCh38] Chr17:18041529 [GRCh37] Chr17:17p11.2 |
uncertain significance |
GRCh37/hg19 17p11.2(chr17:16741411-20410218)x1 |
copy number loss |
See cases [RCV000511460] |
Chr17:16741411..20410218 [GRCh37] Chr17:17p11.2 |
pathogenic |
NM_016239.4(MYO15A):c.3743G>A (p.Arg1248Gln) |
single nucleotide variant |
not specified [RCV000506588] |
Chr17:18125218 [GRCh38] Chr17:18028532 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.2099A>T (p.His700Leu) |
single nucleotide variant |
not specified [RCV000506819] |
Chr17:18120899 [GRCh38] Chr17:18024213 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.7476_7477del (p.Lys2492fs) |
deletion |
not specified [RCV000507128] |
Chr17:18151112..18151113 [GRCh38] Chr17:18054426..18054427 [GRCh37] Chr17:17p11.2 |
pathogenic|likely pathogenic |
GRCh37/hg19 17p11.2(chr17:16738161-20338182)x3 |
copy number gain |
See cases [RCV000511433] |
Chr17:16738161..20338182 [GRCh37] Chr17:17p11.2 |
pathogenic |
NM_016239.4(MYO15A):c.8882C>T (p.Thr2961Met) |
single nucleotide variant |
not specified [RCV000507224] |
Chr17:18157815 [GRCh38] Chr17:18061129 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.8644G>A (p.Asp2882Asn) |
single nucleotide variant |
not provided [RCV001303549]|not specified [RCV000507438] |
Chr17:18156996 [GRCh38] Chr17:18060310 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.8590G>C (p.Glu2864Gln) |
single nucleotide variant |
Inborn genetic diseases [RCV002524920]|not specified [RCV000507669] |
Chr17:18156325 [GRCh38] Chr17:18059639 [GRCh37] Chr17:17p11.2 |
uncertain significance |
GRCh37/hg19 17p11.2(chr17:16727264-20395889)x1 |
copy number loss |
See cases [RCV000511111] |
Chr17:16727264..20395889 [GRCh37] Chr17:17p11.2 |
pathogenic |
NM_016239.4(MYO15A):c.9686G>A (p.Cys3229Tyr) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 3 [RCV002483681]|not specified [RCV000605585] |
Chr17:18163317 [GRCh38] Chr17:18066631 [GRCh37] Chr17:17p11.2 |
uncertain significance |
GRCh37/hg19 17p11.2(chr17:16651292-20437532)x3 |
copy number gain |
See cases [RCV000511042] |
Chr17:16651292..20437532 [GRCh37] Chr17:17p11.2 |
pathogenic |
NM_016239.4(MYO15A):c.9997C>G (p.Arg3333Gly) |
single nucleotide variant |
not specified [RCV000607243] |
Chr17:18167638 [GRCh38] Chr17:18070952 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.7205G>A (p.Gly2402Glu) |
single nucleotide variant |
Inborn genetic diseases [RCV003257206] |
Chr17:18149573 [GRCh38] Chr17:18052887 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.9613-13C>T |
single nucleotide variant |
not provided [RCV002532728]|not specified [RCV000607361] |
Chr17:18163231 [GRCh38] Chr17:18066545 [GRCh37] Chr17:17p11.2 |
likely benign |
NM_016239.4(MYO15A):c.10018C>T (p.Gln3340Ter) |
single nucleotide variant |
not provided [RCV000578664] |
Chr17:18167659 [GRCh38] Chr17:18070973 [GRCh37] Chr17:17p11.2 |
pathogenic |
NM_016239.4(MYO15A):c.3238C>T (p.Arg1080Cys) |
single nucleotide variant |
Inborn genetic diseases [RCV003255240] |
Chr17:18122038 [GRCh38] Chr17:18025352 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.4807C>T (p.Leu1603=) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 3 [RCV001126510]|not provided [RCV002532725]|not specified [RCV000604298] |
Chr17:18137611 [GRCh38] Chr17:18040925 [GRCh37] Chr17:17p11.2 |
likely benign|uncertain significance |
NM_016239.4(MYO15A):c.754C>G (p.His252Asp) |
single nucleotide variant |
not provided [RCV001855253]|not specified [RCV000604716] |
Chr17:18119554 [GRCh38] Chr17:18022868 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.3646C>T (p.Arg1216Cys) |
single nucleotide variant |
Hearing impairment [RCV001375275]|not provided [RCV000596450] |
Chr17:18124519 [GRCh38] Chr17:18027833 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.8225-12G>A |
single nucleotide variant |
not specified [RCV000599717] |
Chr17:18155098 [GRCh38] Chr17:18058412 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.8157C>T (p.His2719=) |
single nucleotide variant |
not provided [RCV000594983] |
Chr17:18154688 [GRCh38] Chr17:18058002 [GRCh37] Chr17:17p11.2 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_016239.4(MYO15A):c.3647G>A (p.Arg1216His) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 3 [RCV001126423]|not provided [RCV000584911] |
Chr17:18124520 [GRCh38] Chr17:18027834 [GRCh37] Chr17:17p11.2 |
benign|likely benign|uncertain significance |
NM_016239.4(MYO15A):c.8614G>A (p.Val2872Met) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 3 [RCV000626303] |
Chr17:18156966 [GRCh38] Chr17:18060280 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.3539G>A (p.Gly1180Asp) |
single nucleotide variant |
Inborn genetic diseases [RCV003299389] |
Chr17:18122339 [GRCh38] Chr17:18025653 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.6969C>G (p.Asn2323Lys) |
single nucleotide variant |
not specified [RCV000600440] |
Chr17:18149228 [GRCh38] Chr17:18052542 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.6728C>A (p.Thr2243Lys) |
single nucleotide variant |
not provided [RCV003327757] |
Chr17:18148532 [GRCh38] Chr17:18051846 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.5212-11C>T |
single nucleotide variant |
not provided [RCV003327941] |
Chr17:18140506 [GRCh38] Chr17:18043820 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.8789G>T (p.Gly2930Val) |
single nucleotide variant |
not provided [RCV000597134] |
Chr17:18157722 [GRCh38] Chr17:18061036 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.4932G>A (p.Gln1644=) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 3 [RCV001128568]|not specified [RCV000602290] |
Chr17:18138171 [GRCh38] Chr17:18041485 [GRCh37] Chr17:17p11.2 |
likely benign|uncertain significance |
NM_016239.4(MYO15A):c.4483-6G>A |
single nucleotide variant |
not specified [RCV000602448] |
Chr17:18135705 [GRCh38] Chr17:18039019 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.8707C>T (p.Arg2903Ter) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 3 [RCV001784186]|Congenital sensorineural hearing impairment [RCV000626937]|not provided [RCV003317302] |
Chr17:18157059 [GRCh38] Chr17:18060373 [GRCh37] Chr17:17p11.2 |
pathogenic|likely pathogenic |
NM_016239.4(MYO15A):c.9303+5G>A |
single nucleotide variant |
Congenital sensorineural hearing impairment [RCV000626938]|not provided [RCV002529799] |
Chr17:18159684 [GRCh38] Chr17:18062998 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.1693G>A (p.Val565Met) |
single nucleotide variant |
Inborn genetic diseases [RCV003255403] |
Chr17:18120493 [GRCh38] Chr17:18023807 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.8051A>G (p.Tyr2684Cys) |
single nucleotide variant |
not specified [RCV000609421] |
Chr17:18153859 [GRCh38] Chr17:18057173 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.8781C>T (p.Pro2927=) |
single nucleotide variant |
not provided [RCV002066624]|not specified [RCV000609553] |
Chr17:18157223 [GRCh38] Chr17:18060537 [GRCh37] Chr17:17p11.2 |
likely benign |
NM_016239.4(MYO15A):c.4827C>T (p.Asn1609=) |
single nucleotide variant |
not specified [RCV000612260] |
Chr17:18137631 [GRCh38] Chr17:18040945 [GRCh37] Chr17:17p11.2 |
likely benign |
NM_016239.4(MYO15A):c.7533_7553dup (p.Val2512_Pro2518dup) |
duplication |
not specified [RCV000606758] |
Chr17:18151166..18151167 [GRCh38] Chr17:18054480..18054481 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.381C>G (p.Leu127=) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 3 [RCV001122477]|not provided [RCV000841485]|not specified [RCV000601553] |
Chr17:18119181 [GRCh38] Chr17:18022495 [GRCh37] Chr17:17p11.2 |
likely benign|uncertain significance |
NM_016239.4(MYO15A):c.3026del (p.Pro1009fs) |
deletion |
Rare genetic deafness [RCV000611730] |
Chr17:18121823 [GRCh38] Chr17:18025137 [GRCh37] Chr17:17p11.2 |
pathogenic |
NM_016239.3(MYO15A):c.419dup (p.Phe141Valfs) |
duplication |
Deafness, autosomal recessive 3 [RCV000626163] |
Chr17:18119219 [GRCh38] Chr17:18022533 [GRCh37] Chr17:17p11.2 |
likely pathogenic |
NM_016239.4(MYO15A):c.9083+6T>A |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 3 [RCV000624126] |
Chr17:18158644 [GRCh38] Chr17:18061958 [GRCh37] Chr17:17p11.2 |
pathogenic |
NM_016239.4(MYO15A):c.6612C>T (p.Arg2204=) |
single nucleotide variant |
not provided [RCV001574985]|not specified [RCV000609846] |
Chr17:18148131 [GRCh38] Chr17:18051445 [GRCh37] Chr17:17p11.2 |
likely benign|conflicting interpretations of pathogenicity |
NM_016239.4(MYO15A):c.2055G>T (p.Ser685=) |
single nucleotide variant |
not specified [RCV000607082] |
Chr17:18120855 [GRCh38] Chr17:18024169 [GRCh37] Chr17:17p11.2 |
likely benign |
NM_016239.4(MYO15A):c.1026C>T (p.Tyr342=) |
single nucleotide variant |
not provided [RCV003326474]|not specified [RCV000610020] |
Chr17:18119826 [GRCh38] Chr17:18023140 [GRCh37] Chr17:17p11.2 |
likely benign |
NM_016239.4(MYO15A):c.4146C>A (p.Gly1382=) |
single nucleotide variant |
not specified [RCV000612769] |
Chr17:18131471 [GRCh38] Chr17:18034785 [GRCh37] Chr17:17p11.2 |
likely benign |
NM_016239.4(MYO15A):c.2598G>C (p.Ser866=) |
single nucleotide variant |
not specified [RCV000615623] |
Chr17:18121398 [GRCh38] Chr17:18024712 [GRCh37] Chr17:17p11.2 |
likely benign |
NM_016239.4(MYO15A):c.8768G>A (p.Arg2923Gln) |
single nucleotide variant |
not provided [RCV001391786]|not specified [RCV000616035] |
Chr17:18157210 [GRCh38] Chr17:18060524 [GRCh37] Chr17:17p11.2 |
likely benign|conflicting interpretations of pathogenicity |
NM_016239.4(MYO15A):c.3018C>A (p.Gly1006=) |
single nucleotide variant |
not provided [RCV000929951]|not specified [RCV000600692] |
Chr17:18121818 [GRCh38] Chr17:18025132 [GRCh37] Chr17:17p11.2 |
likely benign |
NM_016239.4(MYO15A):c.1582G>A (p.Gly528Ser) |
single nucleotide variant |
Nonsyndromic genetic hearing loss [RCV002232566]|not provided [RCV000894117]|not specified [RCV000610120] |
Chr17:18120382 [GRCh38] Chr17:18023696 [GRCh37] Chr17:17p11.2 |
likely benign |
NM_016239.4(MYO15A):c.675G>C (p.Gly225=) |
single nucleotide variant |
not specified [RCV000610169] |
Chr17:18119475 [GRCh38] Chr17:18022789 [GRCh37] Chr17:17p11.2 |
likely benign |
NM_016239.4(MYO15A):c.10094A>G (p.Gln3365Arg) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 3 [RCV000765340]|not provided [RCV001461717]|not specified [RCV000601972] |
Chr17:18171649 [GRCh38] Chr17:18074963 [GRCh37] Chr17:17p11.2 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_016239.4(MYO15A):c.4310A>G (p.Tyr1437Cys) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 3 [RCV002224970]|not specified [RCV000602031] |
Chr17:18132556 [GRCh38] Chr17:18035870 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.4251C>T (p.Ala1417=) |
single nucleotide variant |
not provided [RCV000979665]|not specified [RCV000613160] |
Chr17:18132497 [GRCh38] Chr17:18035811 [GRCh37] Chr17:17p11.2 |
likely benign |
NM_016239.4(MYO15A):c.5007+15C>G |
single nucleotide variant |
not specified [RCV000613162] |
Chr17:18138261 [GRCh38] Chr17:18041575 [GRCh37] Chr17:17p11.2 |
likely benign |
NM_016239.4(MYO15A):c.9328C>T (p.Arg3110Trp) |
single nucleotide variant |
Inborn genetic diseases [RCV002528767]|not specified [RCV000616322] |
Chr17:18159959 [GRCh38] Chr17:18063273 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.5925G>T (p.Trp1975Cys) |
single nucleotide variant |
not specified [RCV000616407] |
Chr17:18143580 [GRCh38] Chr17:18046894 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.420G>T (p.Lys140Asn) |
single nucleotide variant |
not specified [RCV000616600] |
Chr17:18119220 [GRCh38] Chr17:18022534 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.4656-11del |
deletion |
not provided [RCV001556410]|not specified [RCV000616626] |
Chr17:18136551 [GRCh38] Chr17:18039865 [GRCh37] Chr17:17p11.2 |
likely benign|uncertain significance |
NM_016239.4(MYO15A):c.1657del (p.Arg553fs) |
deletion |
Autosomal recessive nonsyndromic hearing loss 3 [RCV003314287] |
Chr17:18120456 [GRCh38] Chr17:18023770 [GRCh37] Chr17:17p11.2 |
pathogenic |
NM_016239.4(MYO15A):c.215G>A (p.Arg72His) |
single nucleotide variant |
Inborn genetic diseases [RCV002528772]|not provided [RCV002528773]|not specified [RCV000613684] |
Chr17:18119015 [GRCh38] Chr17:18022329 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.4497G>T (p.Glu1499Asp) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 3 [RCV001123866]|Nonsyndromic genetic hearing loss [RCV002232567]|not provided [RCV001731805]|not specified [RCV000616755] |
Chr17:18135725 [GRCh38] Chr17:18039039 [GRCh37] Chr17:17p11.2 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_016239.4(MYO15A):c.2629G>T (p.Glu877Ter) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 3 [RCV002509458]|not provided [RCV000595059] |
Chr17:18121429 [GRCh38] Chr17:18024743 [GRCh37] Chr17:17p11.2 |
pathogenic|likely pathogenic |
NM_016239.4(MYO15A):c.8957G>A (p.Arg2986His) |
single nucleotide variant |
Inborn genetic diseases [RCV003267540] |
Chr17:18157890 [GRCh38] Chr17:18061204 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.5742T>C (p.Arg1914=) |
single nucleotide variant |
not specified [RCV000608201] |
Chr17:18142171 [GRCh38] Chr17:18045485 [GRCh37] Chr17:17p11.2 |
likely benign |
NM_016239.4(MYO15A):c.9180C>T (p.Ile3060=) |
single nucleotide variant |
not specified [RCV000613703] |
Chr17:18159298 [GRCh38] Chr17:18062612 [GRCh37] Chr17:17p11.2 |
likely benign |
NM_016239.4(MYO15A):c.5028A>G (p.Leu1676=) |
single nucleotide variant |
not specified [RCV000613751] |
Chr17:18138831 [GRCh38] Chr17:18042145 [GRCh37] Chr17:17p11.2 |
likely benign |
NM_016239.4(MYO15A):c.4780-9A>C |
single nucleotide variant |
not specified [RCV000611285] |
Chr17:18137575 [GRCh38] Chr17:18040889 [GRCh37] Chr17:17p11.2 |
likely benign |
NM_016239.4(MYO15A):c.4596C>T (p.Thr1532=) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 3 [RCV001123868]|not provided [RCV000933236] |
Chr17:18135824 [GRCh38] Chr17:18039138 [GRCh37] Chr17:17p11.2 |
likely benign|uncertain significance |
NM_016239.4(MYO15A):c.3866+12G>A |
single nucleotide variant |
not specified [RCV000611549] |
Chr17:18126468 [GRCh38] Chr17:18029782 [GRCh37] Chr17:17p11.2 |
likely benign |
NM_016239.4(MYO15A):c.3179G>A (p.Ser1060Asn) |
single nucleotide variant |
Inborn genetic diseases [RCV003239538] |
Chr17:18121979 [GRCh38] Chr17:18025293 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.9304-15C>T |
single nucleotide variant |
not specified [RCV000609028] |
Chr17:18159920 [GRCh38] Chr17:18063234 [GRCh37] Chr17:17p11.2 |
likely benign |
NM_016239.4(MYO15A):c.9429C>T (p.Thr3143=) |
single nucleotide variant |
not provided [RCV002531641]|not specified [RCV000611652] |
Chr17:18161359 [GRCh38] Chr17:18064673 [GRCh37] Chr17:17p11.2 |
likely benign |
NM_016239.4(MYO15A):c.3299T>A (p.Leu1100Gln) |
single nucleotide variant |
not specified [RCV000611696] |
Chr17:18122099 [GRCh38] Chr17:18025413 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.9880C>T (p.Arg3294Trp) |
single nucleotide variant |
not specified [RCV000614426] |
Chr17:18166453 [GRCh38] Chr17:18069767 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.8683C>T (p.His2895Tyr) |
single nucleotide variant |
Inborn genetic diseases [RCV003281141] |
Chr17:18157035 [GRCh38] Chr17:18060349 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.10443G>A (p.Ala3481=) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 3 [RCV003117372]|not provided [RCV001707750]|not specified [RCV000609087] |
Chr17:18173873 [GRCh38] Chr17:18077187 [GRCh37] Chr17:17p11.2 |
benign|likely benign|conflicting interpretations of pathogenicity |
NM_016239.4(MYO15A):c.8450G>A (p.Arg2817His) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 3 [RCV002483675]|not provided [RCV001854137]|not specified [RCV000611913] |
Chr17:18155423 [GRCh38] Chr17:18058737 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.3386G>A (p.Arg1129Gln) |
single nucleotide variant |
not specified [RCV000614745] |
Chr17:18122186 [GRCh38] Chr17:18025500 [GRCh37] Chr17:17p11.2 |
likely benign |
GRCh37/hg19 17p11.2(chr17:16782546-20294038) |
copy number loss |
Sleep abnormality [RCV000626510] |
Chr17:16782546..20294038 [GRCh37] Chr17:17p11.2 |
pathogenic |
GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3 |
copy number gain |
See cases [RCV000512441] |
Chr17:526..81041938 [GRCh37] Chr17:17p13.3-q25.3 |
pathogenic |
NM_016239.4(MYO15A):c.4038+6_4038+7del |
deletion |
not provided [RCV001797111]|not specified [RCV000605021] |
Chr17:18130816..18130817 [GRCh38] Chr17:18034130..18034131 [GRCh37] Chr17:17p11.2 |
likely benign|uncertain significance |
NM_016239.4(MYO15A):c.2217A>G (p.Pro739=) |
single nucleotide variant |
not specified [RCV000603605] |
Chr17:18121017 [GRCh38] Chr17:18024331 [GRCh37] Chr17:17p11.2 |
likely benign |
GRCh37/hg19 17p11.2(chr17:16591260-20473937)x3 |
copy number gain |
See cases [RCV000512356] |
Chr17:16591260..20473937 [GRCh37] Chr17:17p11.2 |
pathogenic |
NM_016239.3(MYO15A):c.419dup (p.Phe141Valfs) |
duplication |
Autosomal recessive nonsyndromic hearing loss 3 [RCV000625769]|Hearing impairment [RCV001849419]|not provided [RCV002531925] |
Chr17:18119213..18119214 [GRCh38] Chr17:18022527..18022528 [GRCh37] Chr17:17p11.2 |
pathogenic|likely pathogenic |
NM_016239.4(MYO15A):c.6735A>G (p.Glu2245=) |
single nucleotide variant |
not provided [RCV002531645]|not specified [RCV000607510] |
Chr17:18148539 [GRCh38] Chr17:18051853 [GRCh37] Chr17:17p11.2 |
likely benign |
GRCh37/hg19 17p11.2(chr17:16842163-20217777) |
copy number gain |
Delayed speech and language development [RCV000626511] |
Chr17:16842163..20217777 [GRCh37] Chr17:17p11.2 |
pathogenic |
NM_016239.4(MYO15A):c.3385C>T (p.Arg1129Ter) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 3 [RCV001824841]|Rare genetic deafness [RCV000607201]|not provided [RCV001541806] |
Chr17:18122185 [GRCh38] Chr17:18025499 [GRCh37] Chr17:17p11.2 |
pathogenic|likely pathogenic|not provided |
GRCh37/hg19 17p11.2(chr17:16741411-20489023)x1 |
copy number loss |
See cases [RCV000512446] |
Chr17:16741411..20489023 [GRCh37] Chr17:17p11.2 |
pathogenic |
NM_016239.4(MYO15A):c.6893G>A (p.Arg2298Gln) |
single nucleotide variant |
Rare genetic deafness [RCV000612077] |
Chr17:18148889 [GRCh38] Chr17:18052203 [GRCh37] Chr17:17p11.2 |
likely pathogenic |
NM_016239.4(MYO15A):c.6729G>A (p.Thr2243=) |
single nucleotide variant |
not provided [RCV000594597] |
Chr17:18148533 [GRCh38] Chr17:18051847 [GRCh37] Chr17:17p11.2 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_016239.4(MYO15A):c.3201G>A (p.Ala1067=) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 3 [RCV001123765]|not provided [RCV000904774] |
Chr17:18122001 [GRCh38] Chr17:18025315 [GRCh37] Chr17:17p11.2 |
benign|likely benign|uncertain significance |
NM_016239.4(MYO15A):c.406_407insAGTT (p.Trp136Ter) |
insertion |
Inborn genetic diseases [RCV000622501] |
Chr17:18119205..18119206 [GRCh38] Chr17:18022519..18022520 [GRCh37] Chr17:17p11.2 |
pathogenic |
NM_016239.4(MYO15A):c.8309_8311del (p.Glu2770del) |
deletion |
not provided [RCV000585375] |
Chr17:18155192..18155194 [GRCh38] Chr17:18058506..18058508 [GRCh37] Chr17:17p11.2 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
NM_016239.4(MYO15A):c.1661dup (p.Leu555fs) |
duplication |
Autosomal recessive nonsyndromic hearing loss 3 [RCV001824847]|Inborn genetic diseases [RCV000622879] |
Chr17:18120457..18120458 [GRCh38] Chr17:18023771..18023772 [GRCh37] Chr17:17p11.2 |
pathogenic|not provided |
NM_016239.4(MYO15A):c.4641C>T (p.Ser1547=) |
single nucleotide variant |
not provided [RCV001698080] |
Chr17:18136461 [GRCh38] Chr17:18039775 [GRCh37] Chr17:17p11.2 |
likely benign |
NM_016239.4(MYO15A):c.4547T>G (p.Leu1516Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV000623852] |
Chr17:18135775 [GRCh38] Chr17:18039089 [GRCh37] Chr17:17p11.2 |
likely pathogenic |
GRCh37/hg19 17p11.2(chr17:16936603-18184130) |
copy number loss |
Brachydactyly [RCV000626512] |
Chr17:16936603..18184130 [GRCh37] Chr17:17p11.2 |
pathogenic |
NM_016239.4(MYO15A):c.4609G>A (p.Glu1537Lys) |
single nucleotide variant |
not provided [RCV000657988] |
Chr17:18136429 [GRCh38] Chr17:18039743 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.7550C>T (p.Thr2517Ile) |
single nucleotide variant |
not provided [RCV000657989] |
Chr17:18151186 [GRCh38] Chr17:18054500 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.5005C>T (p.Gln1669Ter) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 3 [RCV000681531]|Hearing loss, autosomal recessive [RCV001291111] |
Chr17:18138244 [GRCh38] Chr17:18041558 [GRCh37] Chr17:17p11.2 |
pathogenic|likely pathogenic |
NM_016239.4(MYO15A):c.7050C>A (p.Tyr2350Ter) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 3 [RCV000677663] |
Chr17:18149309 [GRCh38] Chr17:18052623 [GRCh37] Chr17:17p11.2 |
likely pathogenic |
NM_016239.4(MYO15A):c.4570C>T (p.Gln1524Ter) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 3 [RCV000681536]|Hearing loss, autosomal recessive [RCV001291110] |
Chr17:18135798 [GRCh38] Chr17:18039112 [GRCh37] Chr17:17p11.2 |
pathogenic|likely pathogenic |
GRCh37/hg19 17p11.2(chr17:16727264-20310241)x1 |
copy number loss |
not provided [RCV000683897] |
Chr17:16727264..20310241 [GRCh37] Chr17:17p11.2 |
pathogenic |
GRCh37/hg19 17p11.2(chr17:16761814-20292897)x3 |
copy number gain |
not provided [RCV000683900] |
Chr17:16761814..20292897 [GRCh37] Chr17:17p11.2 |
pathogenic |
GRCh37/hg19 17p11.2(chr17:16999980-20298979)x1 |
copy number loss |
not provided [RCV000683901] |
Chr17:16999980..20298979 [GRCh37] Chr17:17p11.2 |
pathogenic |
GRCh37/hg19 17p11.2(chr17:17021607-20015978)x1 |
copy number loss |
not provided [RCV000683902] |
Chr17:17021607..20015978 [GRCh37] Chr17:17p11.2 |
pathogenic |
GRCh37/hg19 17p11.2(chr17:16741411-20430791)x1 |
copy number loss |
not provided [RCV000683898] |
Chr17:16741411..20430791 [GRCh37] Chr17:17p11.2 |
pathogenic |
NM_016239.4(MYO15A):c.9061C>T (p.Arg3021Ter) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 3 [RCV000678988] |
Chr17:18158616 [GRCh38] Chr17:18061930 [GRCh37] Chr17:17p11.2 |
likely pathogenic |
GRCh37/hg19 17p11.2(chr17:17857310-18122856)x3 |
copy number gain |
not provided [RCV000683905] |
Chr17:17857310..18122856 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.6864_6874del (p.Asp2289fs) |
deletion |
Autosomal recessive nonsyndromic hearing loss 3 [RCV001808219] |
Chr17:18148859..18148869 [GRCh38] Chr17:18052173..18052183 [GRCh37] Chr17:17p11.2 |
likely pathogenic |
NM_016239.4(MYO15A):c.6436C>T (p.Arg2146Trp) |
single nucleotide variant |
Ear malformation [RCV001814491]|not provided [RCV002300545] |
Chr17:18146034 [GRCh38] Chr17:18049348 [GRCh37] Chr17:17p11.2 |
likely pathogenic|uncertain significance |
NM_016239.4(MYO15A):c.3956C>G (p.Ser1319Cys) |
single nucleotide variant |
Ear malformation [RCV001814531] |
Chr17:18127089 [GRCh38] Chr17:18030403 [GRCh37] Chr17:17p11.2 |
likely pathogenic |
NM_016239.4(MYO15A):c.8347G>A (p.Val2783Met) |
single nucleotide variant |
not provided [RCV000712350] |
Chr17:18155320 [GRCh38] Chr17:18058634 [GRCh37] Chr17:17p11.2 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_016239.4(MYO15A):c.458A>G (p.Gln153Arg) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 3 [RCV001001120] |
Chr17:18119258 [GRCh38] Chr17:18022572 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.5825+48C>T |
single nucleotide variant |
not provided [RCV001571108] |
Chr17:18142302 [GRCh38] Chr17:18045616 [GRCh37] Chr17:17p11.2 |
likely benign |
GRCh37/hg19 17p13.3-q25.3(chr17:12344-81057996)x3 |
copy number gain |
not provided [RCV000739325] |
Chr17:12344..81057996 [GRCh37] Chr17:17p13.3-q25.3 |
pathogenic |
GRCh37/hg19 17p13.3-q25.3(chr17:8547-81060040)x3 |
copy number gain |
not provided [RCV000739324] |
Chr17:8547..81060040 [GRCh37] Chr17:17p13.3-q25.3 |
pathogenic |
GRCh37/hg19 17p13.3-q25.3(chr17:7214-81058310)x3 |
copy number gain |
not provided [RCV000739320] |
Chr17:7214..81058310 [GRCh37] Chr17:17p13.3-q25.3 |
pathogenic |
GRCh37/hg19 17p11.2(chr17:16768248-20391959)x1 |
copy number loss |
not provided [RCV000739423] |
Chr17:16768248..20391959 [GRCh37] Chr17:17p11.2 |
pathogenic |
Single allele |
duplication |
Autism [RCV000754201] |
Chr17:16770855..20422847 [GRCh38] Chr17:17p11.2 |
pathogenic |
NC_000017.11:g.(?_16770855)_(20585863_?)del |
deletion |
Autism [RCV000754202] |
Chr17:16770855..20585863 [GRCh38] Chr17:17p11.2 |
pathogenic |
GRCh37/hg19 17p11.2(chr17:16660721-20417975)x1 |
copy number loss |
not provided [RCV000739417] |
Chr17:16660721..20417975 [GRCh37] Chr17:17p11.2 |
pathogenic |
NM_016239.4(MYO15A):c.2517G>A (p.Pro839=) |
single nucleotide variant |
not provided [RCV001540489] |
Chr17:18121317 [GRCh38] Chr17:18024631 [GRCh37] Chr17:17p11.2 |
likely benign |
NM_016239.4(MYO15A):c.4038+8GT[34] |
microsatellite |
not provided [RCV000893447] |
Chr17:18130817..18130818 [GRCh38] Chr17:18034131..18034132 [GRCh37] Chr17:17p11.2 |
benign |
NM_016239.4(MYO15A):c.4033-152G>T |
single nucleotide variant |
not provided [RCV001541639] |
Chr17:18130653 [GRCh38] Chr17:18033967 [GRCh37] Chr17:17p11.2 |
likely benign |
NM_016239.4(MYO15A):c.5133+277A>G |
single nucleotide variant |
not provided [RCV001646039] |
Chr17:18139213 [GRCh38] Chr17:18042527 [GRCh37] Chr17:17p11.2 |
benign |
NM_016239.4(MYO15A):c.2961G>A (p.Arg987=) |
single nucleotide variant |
not provided [RCV000977767] |
Chr17:18121761 [GRCh38] Chr17:18025075 [GRCh37] Chr17:17p11.2 |
likely benign |
NM_016239.4(MYO15A):c.4038+7A>T |
single nucleotide variant |
not provided [RCV000919056] |
Chr17:18130817 [GRCh38] Chr17:18034131 [GRCh37] Chr17:17p11.2 |
likely benign |
NM_016239.4(MYO15A):c.9788-47G>T |
single nucleotide variant |
not provided [RCV001679206] |
Chr17:18166314 [GRCh38] Chr17:18069628 [GRCh37] Chr17:17p11.2 |
benign |
NM_016239.4(MYO15A):c.5531+209_5531+211del |
microsatellite |
not provided [RCV001645189] |
Chr17:18141349..18141351 [GRCh38] Chr17:18044663..18044665 [GRCh37] Chr17:17p11.2 |
benign |
NM_016239.4(MYO15A):c.8967+13T>G |
single nucleotide variant |
not provided [RCV001534901] |
Chr17:18157913 [GRCh38] Chr17:18061227 [GRCh37] Chr17:17p11.2 |
likely benign |
NM_016239.4(MYO15A):c.4483-330G>A |
single nucleotide variant |
not provided [RCV001565988] |
Chr17:18135381 [GRCh38] Chr17:18038695 [GRCh37] Chr17:17p11.2 |
likely benign |
NM_016239.4(MYO15A):c.3756+279C>T |
single nucleotide variant |
not provided [RCV001586335] |
Chr17:18125510 [GRCh38] Chr17:18028824 [GRCh37] Chr17:17p11.2 |
likely benign |
NM_016239.4(MYO15A):c.2159C>T (p.Ala720Val) |
single nucleotide variant |
not provided [RCV001586400] |
Chr17:18120959 [GRCh38] Chr17:18024273 [GRCh37] Chr17:17p11.2 |
benign|likely benign |
NM_016239.4(MYO15A):c.4875+3G>A |
single nucleotide variant |
not provided [RCV001574552] |
Chr17:18137682 [GRCh38] Chr17:18040996 [GRCh37] Chr17:17p11.2 |
likely benign|conflicting interpretations of pathogenicity |
NM_016239.4(MYO15A):c.7495C>T (p.Gln2499Ter) |
single nucleotide variant |
not provided [RCV000760842] |
Chr17:18151131 [GRCh38] Chr17:18054445 [GRCh37] Chr17:17p11.2 |
likely pathogenic |
NM_016239.4(MYO15A):c.1171_1177dup (p.Tyr393fs) |
duplication |
Autosomal recessive nonsyndromic hearing loss 3 [RCV000761491]|Nonsyndromic genetic hearing loss [RCV002233762] |
Chr17:18119970..18119971 [GRCh38] Chr17:18023284..18023285 [GRCh37] Chr17:17p11.2 |
pathogenic |
NM_016239.4(MYO15A):c.328C>T (p.Arg110Cys) |
single nucleotide variant |
not provided [RCV000756405] |
Chr17:18119128 [GRCh38] Chr17:18022442 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.6503T>G (p.Leu2168Arg) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 3 [RCV000761532]|not provided [RCV001766593] |
Chr17:18146101 [GRCh38] Chr17:18049415 [GRCh37] Chr17:17p11.2 |
pathogenic|uncertain significance |
NM_016239.4(MYO15A):c.2947G>T (p.Ala983Ser) |
single nucleotide variant |
not provided [RCV000762235] |
Chr17:18121747 [GRCh38] Chr17:18025061 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.5197C>T (p.Arg1733Trp) |
single nucleotide variant |
not provided [RCV000762236] |
Chr17:18139597 [GRCh38] Chr17:18042911 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.7012C>T (p.Gln2338Ter) |
single nucleotide variant |
not provided [RCV000760696] |
Chr17:18149271 [GRCh38] Chr17:18052585 [GRCh37] Chr17:17p11.2 |
pathogenic |
NM_016239.4(MYO15A):c.2419C>T (p.Gln807Ter) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 3 [RCV002051890]|not provided [RCV000760714] |
Chr17:18121219 [GRCh38] Chr17:18024533 [GRCh37] Chr17:17p11.2 |
pathogenic|likely pathogenic |
NM_016239.4(MYO15A):c.4655+1G>A |
single nucleotide variant |
not provided [RCV003314847] |
Chr17:18136476 [GRCh38] Chr17:18039790 [GRCh37] Chr17:17p11.2 |
pathogenic |
NM_016239.4(MYO15A):c.1562C>T (p.Pro521Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV002539595]|not provided [RCV001663364] |
Chr17:18120362 [GRCh38] Chr17:18023676 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.8088+91G>A |
single nucleotide variant |
not provided [RCV001680415] |
Chr17:18153987 [GRCh38] Chr17:18057301 [GRCh37] Chr17:17p11.2 |
benign |
NM_016239.4(MYO15A):c.2397G>A (p.Leu799=) |
single nucleotide variant |
not provided [RCV001581675] |
Chr17:18121197 [GRCh38] Chr17:18024511 [GRCh37] Chr17:17p11.2 |
likely benign |
NM_016239.4(MYO15A):c.10082+301A>G |
single nucleotide variant |
not provided [RCV001608767] |
Chr17:18168024 [GRCh38] Chr17:18071338 [GRCh37] Chr17:17p11.2 |
benign |
NM_016239.4(MYO15A):c.3196G>C (p.Ala1066Pro) |
single nucleotide variant |
Childhood onset hearing loss [RCV001328009]|not provided [RCV000756404] |
Chr17:18121996 [GRCh38] Chr17:18025310 [GRCh37] Chr17:17p11.2 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_016239.4(MYO15A):c.9517+208G>A |
single nucleotide variant |
not provided [RCV001668005] |
Chr17:18161655 [GRCh38] Chr17:18064969 [GRCh37] Chr17:17p11.2 |
benign |
NM_016239.4(MYO15A):c.4321-2A>T |
single nucleotide variant |
not provided [RCV000992396] |
Chr17:18133223 [GRCh38] Chr17:18036537 [GRCh37] Chr17:17p11.2 |
likely pathogenic |
NM_016239.4(MYO15A):c.5361-1G>T |
single nucleotide variant |
not provided [RCV001963928] |
Chr17:18140786 [GRCh38] Chr17:18044100 [GRCh37] Chr17:17p11.2 |
likely pathogenic |
NM_016239.4(MYO15A):c.8602-10G>T |
single nucleotide variant |
not provided [RCV001582187] |
Chr17:18156944 [GRCh38] Chr17:18060258 [GRCh37] Chr17:17p11.2 |
likely benign |
NM_016239.4(MYO15A):c.10350+164T>C |
single nucleotide variant |
not provided [RCV001548522] |
Chr17:18172454 [GRCh38] Chr17:18075768 [GRCh37] Chr17:17p11.2 |
likely benign |
NM_016239.4(MYO15A):c.3693-248T>A |
single nucleotide variant |
not provided [RCV001552266] |
Chr17:18124920 [GRCh38] Chr17:18028234 [GRCh37] Chr17:17p11.2 |
likely benign |
NM_016239.4(MYO15A):c.6178-37dup |
duplication |
not provided [RCV001609020] |
Chr17:18144458..18144459 [GRCh38] Chr17:18047772..18047773 [GRCh37] Chr17:17p11.2 |
benign |
GRCh37/hg19 17p12-11.2(chr17:15796140-20331131)x3 |
copy number gain |
not provided [RCV000751941] |
Chr17:15796140..20331131 [GRCh37] Chr17:17p12-11.2 |
pathogenic |
NM_016239.4(MYO15A):c.8937C>T (p.Ala2979=) |
single nucleotide variant |
not provided [RCV000921377] |
Chr17:18157870 [GRCh38] Chr17:18061184 [GRCh37] Chr17:17p11.2 |
likely benign |
NM_016239.4(MYO15A):c.4038+8GT[25] |
microsatellite |
not provided [RCV000949397] |
Chr17:18130818..18130821 [GRCh38] Chr17:18034132..18034135 [GRCh37] Chr17:17p11.2 |
benign |
NM_016239.4(MYO15A):c.6981G>A (p.Ser2327=) |
single nucleotide variant |
not provided [RCV000906745] |
Chr17:18149240 [GRCh38] Chr17:18052554 [GRCh37] Chr17:17p11.2 |
likely benign |
NM_016239.4(MYO15A):c.6651T>C (p.Tyr2217=) |
single nucleotide variant |
not provided [RCV000924076] |
Chr17:18148170 [GRCh38] Chr17:18051484 [GRCh37] Chr17:17p11.2 |
likely benign |
NM_016239.4(MYO15A):c.393C>G (p.Ser131=) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 3 [RCV001122478]|not provided [RCV000892416] |
Chr17:18119193 [GRCh38] Chr17:18022507 [GRCh37] Chr17:17p11.2 |
benign|uncertain significance |
NM_016239.4(MYO15A):c.3363G>A (p.Val1121=) |
single nucleotide variant |
not provided [RCV000968737] |
Chr17:18122163 [GRCh38] Chr17:18025477 [GRCh37] Chr17:17p11.2 |
likely benign |
NM_016239.4(MYO15A):c.5008-5C>T |
single nucleotide variant |
not provided [RCV000981824] |
Chr17:18138806 [GRCh38] Chr17:18042120 [GRCh37] Chr17:17p11.2 |
likely benign |
NM_016239.4(MYO15A):c.250T>A (p.Ser84Thr) |
single nucleotide variant |
not provided [RCV000901290] |
Chr17:18119050 [GRCh38] Chr17:18022364 [GRCh37] Chr17:17p11.2 |
likely benign |
NM_016239.4(MYO15A):c.4239C>T (p.Tyr1413=) |
single nucleotide variant |
not provided [RCV000927206] |
Chr17:18132485 [GRCh38] Chr17:18035799 [GRCh37] Chr17:17p11.2 |
likely benign |
NM_016239.4(MYO15A):c.9369C>T (p.Asp3123=) |
single nucleotide variant |
not provided [RCV000915930] |
Chr17:18160000 [GRCh38] Chr17:18063314 [GRCh37] Chr17:17p11.2 |
likely benign |
NM_016239.4(MYO15A):c.969G>A (p.Ser323=) |
single nucleotide variant |
not provided [RCV000901443]|not specified [RCV001449848] |
Chr17:18119769 [GRCh38] Chr17:18023083 [GRCh37] Chr17:17p11.2 |
likely benign |
NM_016239.4(MYO15A):c.3942-6G>T |
single nucleotide variant |
not provided [RCV000921201] |
Chr17:18127069 [GRCh38] Chr17:18030383 [GRCh37] Chr17:17p11.2 |
likely benign |
NM_016239.4(MYO15A):c.885C>T (p.Tyr295=) |
single nucleotide variant |
not provided [RCV000922705] |
Chr17:18119685 [GRCh38] Chr17:18022999 [GRCh37] Chr17:17p11.2 |
likely benign |
NM_016239.4(MYO15A):c.4038+8GT[26] |
microsatellite |
not provided [RCV000948448] |
Chr17:18130818..18130819 [GRCh38] Chr17:18034132..18034133 [GRCh37] Chr17:17p11.2 |
benign|likely benign |
NM_016239.4(MYO15A):c.10081G>A (p.Val3361Met) |
single nucleotide variant |
not provided [RCV001571084] |
Chr17:18167722 [GRCh38] Chr17:18071036 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.10247CCT[1] (p.Ser3417del) |
microsatellite |
Autosomal recessive nonsyndromic hearing loss 3 [RCV001089558]|not provided [RCV001759858] |
Chr17:18172185..18172187 [GRCh38] Chr17:18075499..18075501 [GRCh37] Chr17:17p11.2 |
pathogenic|likely pathogenic|uncertain significance |
NM_016239.4(MYO15A):c.10491+2T>C |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 3 [RCV001089559] |
Chr17:18173923 [GRCh38] Chr17:18077237 [GRCh37] Chr17:17p11.2 |
pathogenic|likely pathogenic |
NM_016239.4(MYO15A):c.4351G>A (p.Asp1451Asn) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 3 [RCV001089565]|Hearing impairment [RCV001375178]|not provided [RCV001090736] |
Chr17:18133255 [GRCh38] Chr17:18036569 [GRCh37] Chr17:17p11.2 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
NM_016239.4(MYO15A):c.5461del (p.Val1821fs) |
deletion |
Autosomal recessive nonsyndromic hearing loss 3 [RCV001089566] |
Chr17:18141070 [GRCh38] Chr17:18044384 [GRCh37] Chr17:17p11.2 |
likely pathogenic |
NM_016239.4(MYO15A):c.6177+1G>T |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 3 [RCV000770836] |
Chr17:18144001 [GRCh38] Chr17:18047315 [GRCh37] Chr17:17p11.2 |
pathogenic|likely pathogenic |
NM_016239.4(MYO15A):c.2384dup (p.Ser796fs) |
duplication |
Autosomal recessive nonsyndromic hearing loss 3 [RCV000779206] |
Chr17:18121179..18121180 [GRCh38] Chr17:18024493..18024494 [GRCh37] Chr17:17p11.2 |
pathogenic|uncertain significance |
NM_016239.4(MYO15A):c.4198G>A (p.Val1400Met) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 3 [RCV000779207]|Nonsyndromic genetic hearing loss [RCV002233817]|Rare genetic deafness [RCV000825533]|not provided [RCV001561220] |
Chr17:18131523 [GRCh38] Chr17:18034837 [GRCh37] Chr17:17p11.2 |
pathogenic|likely pathogenic |
NM_016239.4(MYO15A):c.5492del (p.Gly1831fs) |
deletion |
Autosomal recessive nonsyndromic hearing loss 3 [RCV000779208] |
Chr17:18141102 [GRCh38] Chr17:18044416 [GRCh37] Chr17:17p11.2 |
pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
NM_016239.4(MYO15A):c.4522G>T (p.Glu1508Ter) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 3 [RCV000770832] |
Chr17:18135750 [GRCh38] Chr17:18039064 [GRCh37] Chr17:17p11.2 |
pathogenic |
NM_016239.4(MYO15A):c.4609G>T (p.Glu1537Ter) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 3 [RCV000770833] |
Chr17:18136429 [GRCh38] Chr17:18039743 [GRCh37] Chr17:17p11.2 |
pathogenic |
NM_016239.4(MYO15A):c.3233G>A (p.Trp1078Ter) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 3 [RCV000770838] |
Chr17:18122033 [GRCh38] Chr17:18025347 [GRCh37] Chr17:17p11.2 |
likely pathogenic |
NM_016239.4(MYO15A):c.5941G>T (p.Gly1981Trp) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 3 [RCV000770839] |
Chr17:18143596 [GRCh38] Chr17:18046910 [GRCh37] Chr17:17p11.2 |
likely pathogenic |
NM_016239.4(MYO15A):c.3241T>G (p.Trp1081Gly) |
single nucleotide variant |
not specified [RCV000825385] |
Chr17:18122041 [GRCh38] Chr17:18025355 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.1525G>A (p.Asp509Asn) |
single nucleotide variant |
not specified [RCV000825391] |
Chr17:18120325 [GRCh38] Chr17:18023639 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.3203G>T (p.Cys1068Phe) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 3 [RCV001123766]|Inborn genetic diseases [RCV002538228]|not provided [RCV001354263]|not specified [RCV000825786] |
Chr17:18122003 [GRCh38] Chr17:18025317 [GRCh37] Chr17:17p11.2 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_016239.4(MYO15A):c.5867G>A (p.Arg1956Gln) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 3 [RCV001328944]|Inborn genetic diseases [RCV002536070]|not provided [RCV001858409]|not specified [RCV000825970] |
Chr17:18142797 [GRCh38] Chr17:18046111 [GRCh37] Chr17:17p11.2 |
uncertain significance |
GRCh37/hg19 17p11.2(chr17:16908991-18322254)x1 |
copy number loss |
See cases [RCV000790581] |
Chr17:16908991..18322254 [GRCh37] Chr17:17p11.2 |
pathogenic |
NM_016239.4(MYO15A):c.605C>A (p.Pro202His) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 3 [RCV000770831] |
Chr17:18119405 [GRCh38] Chr17:18022719 [GRCh37] Chr17:17p11.2 |
pathogenic |
GRCh37/hg19 17p11.2(chr17:16842991-20217316) |
copy number loss |
Smith-Magenis syndrome [RCV000767738] |
Chr17:16842991..20217316 [GRCh37] Chr17:17p11.2 |
pathogenic |
NM_016239.4(MYO15A):c.3384G>A (p.Gln1128=) |
single nucleotide variant |
not provided [RCV000973744] |
Chr17:18122184 [GRCh38] Chr17:18025498 [GRCh37] Chr17:17p11.2 |
likely benign |
NM_016239.4(MYO15A):c.6237C>T (p.Ala2079=) |
single nucleotide variant |
not provided [RCV000895449] |
Chr17:18144556 [GRCh38] Chr17:18047870 [GRCh37] Chr17:17p11.2 |
likely benign |
NM_016239.4(MYO15A):c.8441G>A (p.Arg2814Gln) |
single nucleotide variant |
not provided [RCV000881034] |
Chr17:18155414 [GRCh38] Chr17:18058728 [GRCh37] Chr17:17p11.2 |
likely benign |
NM_016239.4(MYO15A):c.2013C>T (p.Ser671=) |
single nucleotide variant |
not provided [RCV000918499] |
Chr17:18120813 [GRCh38] Chr17:18024127 [GRCh37] Chr17:17p11.2 |
likely benign |
NM_016239.4(MYO15A):c.10227C>T (p.Ser3409=) |
single nucleotide variant |
not provided [RCV000895887] |
Chr17:18172167 [GRCh38] Chr17:18075481 [GRCh37] Chr17:17p11.2 |
benign|likely benign |
NM_016239.4(MYO15A):c.9441C>T (p.Ser3147=) |
single nucleotide variant |
not provided [RCV000943125] |
Chr17:18161371 [GRCh38] Chr17:18064685 [GRCh37] Chr17:17p11.2 |
likely benign |
NM_016239.4(MYO15A):c.544C>A (p.Arg182=) |
single nucleotide variant |
not provided [RCV000938581] |
Chr17:18119344 [GRCh38] Chr17:18022658 [GRCh37] Chr17:17p11.2 |
likely benign |
NM_016239.4(MYO15A):c.7572C>T (p.Ala2524=) |
single nucleotide variant |
not provided [RCV000906219] |
Chr17:18151208 [GRCh38] Chr17:18054522 [GRCh37] Chr17:17p11.2 |
likely benign |
NM_016239.4(MYO15A):c.4287G>C (p.Leu1429=) |
single nucleotide variant |
not provided [RCV000977983] |
Chr17:18132533 [GRCh38] Chr17:18035847 [GRCh37] Chr17:17p11.2 |
likely benign |
NM_016239.4(MYO15A):c.8224+8G>C |
single nucleotide variant |
not provided [RCV000903556] |
Chr17:18154763 [GRCh38] Chr17:18058077 [GRCh37] Chr17:17p11.2 |
benign|likely benign |
NM_016239.4(MYO15A):c.263C>T (p.Thr88Met) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 3 [RCV000770772] |
Chr17:18119063 [GRCh38] Chr17:18022377 [GRCh37] Chr17:17p11.2 |
likely pathogenic |
NM_016239.4(MYO15A):c.1971G>A (p.Trp657Ter) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 3 [RCV000770837] |
Chr17:18120771 [GRCh38] Chr17:18024085 [GRCh37] Chr17:17p11.2 |
likely pathogenic |
NM_016239.4(MYO15A):c.9084-1G>T |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 3 [RCV000770834] |
Chr17:18158924 [GRCh38] Chr17:18062238 [GRCh37] Chr17:17p11.2 |
likely pathogenic |
NM_016239.4(MYO15A):c.8088+1G>A |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 3 [RCV000770835] |
Chr17:18153897 [GRCh38] Chr17:18057211 [GRCh37] Chr17:17p11.2 |
likely pathogenic |
NM_016239.4(MYO15A):c.477G>A (p.Trp159Ter) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 3 [RCV000770829] |
Chr17:18119277 [GRCh38] Chr17:18022591 [GRCh37] Chr17:17p11.2 |
pathogenic |
NM_016239.4(MYO15A):c.8524G>T (p.Glu2842Ter) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 3 [RCV000770830] |
Chr17:18156259 [GRCh38] Chr17:18059573 [GRCh37] Chr17:17p11.2 |
pathogenic |
NM_016239.4(MYO15A):c.9522C>T (p.Ile3174=) |
single nucleotide variant |
not provided [RCV000841004] |
Chr17:18162589 [GRCh38] Chr17:18065903 [GRCh37] Chr17:17p11.2 |
likely benign |
NM_016239.4(MYO15A):c.488C>A (p.Ser163Ter) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 3 [RCV000855723] |
Chr17:18119288 [GRCh38] Chr17:18022602 [GRCh37] Chr17:17p11.2 |
pathogenic |
NM_016239.4(MYO15A):c.7893+10G>A |
single nucleotide variant |
not provided [RCV000841208] |
Chr17:18151961 [GRCh38] Chr17:18055275 [GRCh37] Chr17:17p11.2 |
likely benign |
NM_016239.4(MYO15A):c.4032+7C>T |
single nucleotide variant |
not provided [RCV000976588] |
Chr17:18127172 [GRCh38] Chr17:18030486 [GRCh37] Chr17:17p11.2 |
likely benign |
NM_016239.4(MYO15A):c.3693-11T>A |
single nucleotide variant |
not provided [RCV000841878] |
Chr17:18125157 [GRCh38] Chr17:18028471 [GRCh37] Chr17:17p11.2 |
likely benign |
NM_016239.4(MYO15A):c.2106G>A (p.Pro702=) |
single nucleotide variant |
not provided [RCV000842368] |
Chr17:18120906 [GRCh38] Chr17:18024220 [GRCh37] Chr17:17p11.2 |
likely benign |
NM_016239.4(MYO15A):c.370G>A (p.Ala124Thr) |
single nucleotide variant |
not specified [RCV000825382] |
Chr17:18119170 [GRCh38] Chr17:18022484 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.9161C>T (p.Pro3054Leu) |
single nucleotide variant |
not specified [RCV000825387] |
Chr17:18159279 [GRCh38] Chr17:18062593 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.6273+5G>T |
single nucleotide variant |
not specified [RCV000825389] |
Chr17:18144597 [GRCh38] Chr17:18047911 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.4945C>T (p.Leu1649Phe) |
single nucleotide variant |
not specified [RCV000825393] |
Chr17:18138184 [GRCh38] Chr17:18041498 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.8215G>C (p.Ala2739Pro) |
single nucleotide variant |
Inborn genetic diseases [RCV002536050]|not specified [RCV000825395] |
Chr17:18154746 [GRCh38] Chr17:18058060 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.3941+61T>C |
single nucleotide variant |
not provided [RCV000842643] |
Chr17:18126926 [GRCh38] Chr17:18030240 [GRCh37] Chr17:17p11.2 |
benign |
NM_016239.4(MYO15A):c.8967+27C>G |
single nucleotide variant |
not provided [RCV000842660] |
Chr17:18157927 [GRCh38] Chr17:18061241 [GRCh37] Chr17:17p11.2 |
benign |
NM_016239.4(MYO15A):c.3217G>A (p.Ala1073Thr) |
single nucleotide variant |
not specified [RCV000825388] |
Chr17:18122017 [GRCh38] Chr17:18025331 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.8967+22T>G |
single nucleotide variant |
not provided [RCV000842883] |
Chr17:18157922 [GRCh38] Chr17:18061236 [GRCh37] Chr17:17p11.2 |
benign |
NM_016239.4(MYO15A):c.346_376del (p.Gly116fs) |
deletion |
Autosomal recessive nonsyndromic hearing loss 3 [RCV000984934] |
Chr17:18119144..18119174 [GRCh38] Chr17:18022458..18022488 [GRCh37] Chr17:17p11.2 |
likely pathogenic |
NM_016239.4(MYO15A):c.515T>C (p.Leu172Pro) |
single nucleotide variant |
not specified [RCV000825971] |
Chr17:18119315 [GRCh38] Chr17:18022629 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.7467C>T (p.Pro2489=) |
single nucleotide variant |
not provided [RCV000915929] |
Chr17:18150907 [GRCh38] Chr17:18054221 [GRCh37] Chr17:17p11.2 |
benign |
NM_016239.4(MYO15A):c.700G>C (p.Glu234Gln) |
single nucleotide variant |
not provided [RCV001772148]|not specified [RCV000825390] |
Chr17:18119500 [GRCh38] Chr17:18022814 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.4091_4099del (p.Arg1364_Asp1366del) |
deletion |
not specified [RCV000825394] |
Chr17:18131289..18131297 [GRCh38] Chr17:18034603..18034611 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.9517+2T>C |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 3 [RCV001001764]|Nonsyndromic genetic hearing loss [RCV002235474]|Rare genetic deafness [RCV000825569] |
Chr17:18161449 [GRCh38] Chr17:18064763 [GRCh37] Chr17:17p11.2 |
pathogenic|likely pathogenic |
NM_016239.4(MYO15A):c.3295C>T (p.Pro1099Ser) |
single nucleotide variant |
not specified [RCV000825968] |
Chr17:18122095 [GRCh38] Chr17:18025409 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.9619C>T (p.Arg3207Cys) |
single nucleotide variant |
not specified [RCV000825973] |
Chr17:18163250 [GRCh38] Chr17:18066564 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.4207-35G>T |
single nucleotide variant |
not provided [RCV000844506] |
Chr17:18132418 [GRCh38] Chr17:18035732 [GRCh37] Chr17:17p11.2 |
likely benign |
NM_016239.4(MYO15A):c.1863G>A (p.Lys621=) |
single nucleotide variant |
not provided [RCV000827582] |
Chr17:18120663 [GRCh38] Chr17:18023977 [GRCh37] Chr17:17p11.2 |
likely benign |
NM_016239.4(MYO15A):c.7254G>A (p.Gly2418=) |
single nucleotide variant |
not specified [RCV000825195] |
Chr17:18150470 [GRCh38] Chr17:18053784 [GRCh37] Chr17:17p11.2 |
likely benign |
NM_016239.4(MYO15A):c.6486G>A (p.Pro2162=) |
single nucleotide variant |
not specified [RCV000825196] |
Chr17:18146084 [GRCh38] Chr17:18049398 [GRCh37] Chr17:17p11.2 |
likely benign |
NM_016239.4(MYO15A):c.1261C>T (p.Pro421Ser) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 3 [RCV002224973]|not specified [RCV000825386] |
Chr17:18120061 [GRCh38] Chr17:18023375 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.8967+50C>A |
single nucleotide variant |
not provided [RCV000835897] |
Chr17:18157950 [GRCh38] Chr17:18061264 [GRCh37] Chr17:17p11.2 |
likely benign |
NM_016239.4(MYO15A):c.4607G>T (p.Arg1536Leu) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 3 [RCV001123869]|not provided [RCV001731952]|not specified [RCV000825966] |
Chr17:18136427 [GRCh38] Chr17:18039741 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.4561G>C (p.Glu1521Gln) |
single nucleotide variant |
Inborn genetic diseases [RCV001266547]|not provided [RCV000992397] |
Chr17:18135789 [GRCh38] Chr17:18039103 [GRCh37] Chr17:17p11.2 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_016239.4(MYO15A):c.8460-29G>C |
single nucleotide variant |
not provided [RCV000827087] |
Chr17:18156166 [GRCh38] Chr17:18059480 [GRCh37] Chr17:17p11.2 |
likely benign |
NM_016239.4(MYO15A):c.6378G>C (p.Glu2126Asp) |
single nucleotide variant |
not specified [RCV000825396] |
Chr17:18145976 [GRCh38] Chr17:18049290 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.4461C>T (p.Asn1487=) |
single nucleotide variant |
not provided [RCV001593025]|not specified [RCV000825787] |
Chr17:18133365 [GRCh38] Chr17:18036679 [GRCh37] Chr17:17p11.2 |
likely benign |
GRCh37/hg19 17p12-11.2(chr17:15632431-18726389)x1 |
copy number loss |
not provided [RCV001006874] |
Chr17:15632431..18726389 [GRCh37] Chr17:17p12-11.2 |
pathogenic |
NM_016239.4(MYO15A):c.10166G>A (p.Arg3389Gln) |
single nucleotide variant |
Inborn genetic diseases [RCV002557949]|not provided [RCV001090737] |
Chr17:18171721 [GRCh38] Chr17:18075035 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.2972G>C (p.Gly991Ala) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 3 [RCV000989768] |
Chr17:18121772 [GRCh38] Chr17:18025086 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.9034A>G (p.Met3012Val) |
single nucleotide variant |
not provided [RCV003238983] |
Chr17:18158589 [GRCh38] Chr17:18061903 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.10216+7G>A |
single nucleotide variant |
not provided [RCV000916821] |
Chr17:18171778 [GRCh38] Chr17:18075092 [GRCh37] Chr17:17p11.2 |
likely benign |
NM_016239.4(MYO15A):c.4206+9C>A |
single nucleotide variant |
not provided [RCV000840073] |
Chr17:18131540 [GRCh38] Chr17:18034854 [GRCh37] Chr17:17p11.2 |
likely benign |
NM_016239.4(MYO15A):c.7197G>A (p.Leu2399=) |
single nucleotide variant |
not provided [RCV000840078]|not specified [RCV001449677] |
Chr17:18149565 [GRCh38] Chr17:18052879 [GRCh37] Chr17:17p11.2 |
likely benign |
NM_016239.4(MYO15A):c.3795C>A (p.Tyr1265Ter) |
single nucleotide variant |
Rare genetic deafness [RCV000825534] |
Chr17:18126385 [GRCh38] Chr17:18029699 [GRCh37] Chr17:17p11.2 |
likely pathogenic |
NM_016239.4(MYO15A):c.9702C>T (p.Asp3234=) |
single nucleotide variant |
not provided [RCV000908952]|not specified [RCV000825791] |
Chr17:18163753 [GRCh38] Chr17:18067067 [GRCh37] Chr17:17p11.2 |
likely benign |
NM_016239.4(MYO15A):c.1398C>G (p.Pro466=) |
single nucleotide variant |
not provided [RCV000917865] |
Chr17:18120198 [GRCh38] Chr17:18023512 [GRCh37] Chr17:17p11.2 |
likely benign |
NM_016239.4(MYO15A):c.1585C>T (p.His529Tyr) |
single nucleotide variant |
not provided [RCV003442121]|not specified [RCV000825972] |
Chr17:18120385 [GRCh38] Chr17:18023699 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.549T>C (p.Pro183=) |
single nucleotide variant |
not provided [RCV000827090] |
Chr17:18119349 [GRCh38] Chr17:18022663 [GRCh37] Chr17:17p11.2 |
benign|likely benign |
NM_016239.4(MYO15A):c.4032+45G>A |
single nucleotide variant |
not provided [RCV000842644] |
Chr17:18127210 [GRCh38] Chr17:18030524 [GRCh37] Chr17:17p11.2 |
benign |
NM_016239.4(MYO15A):c.9985G>A (p.Val3329Met) |
single nucleotide variant |
not provided [RCV000992401] |
Chr17:18167626 [GRCh38] Chr17:18070940 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.7500del (p.Thr2501fs) |
deletion |
not provided [RCV001008218] |
Chr17:18151136 [GRCh38] Chr17:18054450 [GRCh37] Chr17:17p11.2 |
likely pathogenic |
NM_016239.4(MYO15A):c.4429C>T (p.Arg1477Cys) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 3 [RCV000984935] |
Chr17:18133333 [GRCh38] Chr17:18036647 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.3524dup (p.Ser1176fs) |
duplication |
Autosomal recessive nonsyndromic hearing loss 3 [RCV000989770]|not provided [RCV001732007] |
Chr17:18122323..18122324 [GRCh38] Chr17:18025637..18025638 [GRCh37] Chr17:17p11.2 |
pathogenic|likely pathogenic |
NM_016239.4(MYO15A):c.4879G>T (p.Glu1627Ter) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 3 [RCV000851574] |
Chr17:18138118 [GRCh38] Chr17:18041432 [GRCh37] Chr17:17p11.2 |
pathogenic |
NM_016239.4(MYO15A):c.3498C>T (p.Pro1166=) |
single nucleotide variant |
not specified [RCV001195458] |
Chr17:18122298 [GRCh38] Chr17:18025612 [GRCh37] Chr17:17p11.2 |
likely benign |
NM_016239.4(MYO15A):c.3867-4C>G |
single nucleotide variant |
not specified [RCV001195461] |
Chr17:18126787 [GRCh38] Chr17:18030101 [GRCh37] Chr17:17p11.2 |
likely benign |
NM_016239.4(MYO15A):c.1795_1798dup (p.Pro600fs) |
duplication |
not provided [RCV001008962] |
Chr17:18120593..18120594 [GRCh38] Chr17:18023907..18023908 [GRCh37] Chr17:17p11.2 |
pathogenic |
NM_016239.4(MYO15A):c.1615C>T (p.Gln539Ter) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 3 [RCV000989767] |
Chr17:18120415 [GRCh38] Chr17:18023729 [GRCh37] Chr17:17p11.2 |
pathogenic |
NM_016239.4(MYO15A):c.5673C>G (p.Tyr1891Ter) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 3 [RCV001250120] |
Chr17:18142102 [GRCh38] Chr17:18045416 [GRCh37] Chr17:17p11.2 |
pathogenic |
NM_016239.4(MYO15A):c.4828G>A (p.Glu1610Lys) |
single nucleotide variant |
not provided [RCV003481488]|not specified [RCV003317920] |
Chr17:18137632 [GRCh38] Chr17:18040946 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.8552C>T (p.Ala2851Val) |
single nucleotide variant |
not specified [RCV003317921] |
Chr17:18156287 [GRCh38] Chr17:18059601 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.7385C>A (p.Ala2462Asp) |
single nucleotide variant |
not provided [RCV003312379] |
Chr17:18150755 [GRCh38] Chr17:18054069 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.1150G>A (p.Val384Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV003290137] |
Chr17:18119950 [GRCh38] Chr17:18023264 [GRCh37] Chr17:17p11.2 |
likely benign |
NM_016239.4(MYO15A):c.8560G>A (p.Val2854Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV003273265] |
Chr17:18156295 [GRCh38] Chr17:18059609 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.3724C>T (p.Leu1242Phe) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 3 [RCV000989771] |
Chr17:18125199 [GRCh38] Chr17:18028513 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.4235T>A (p.Phe1412Tyr) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 3 [RCV001328943]|not provided [RCV000996507] |
Chr17:18132481 [GRCh38] Chr17:18035795 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.9371A>G (p.Asn3124Ser) |
single nucleotide variant |
not provided [RCV000996508] |
Chr17:18160002 [GRCh38] Chr17:18063316 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.9691-3C>T |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 3 [RCV001126927] |
Chr17:18163739 [GRCh38] Chr17:18067053 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.9231T>C (p.Ala3077=) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 3 [RCV001124253] |
Chr17:18159607 [GRCh38] Chr17:18062921 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.7582A>G (p.Lys2528Glu) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 3 [RCV001127116] |
Chr17:18151218 [GRCh38] Chr17:18054532 [GRCh37] Chr17:17p11.2 |
likely benign|uncertain significance |
NM_016239.4(MYO15A):c.*797C>T |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 3 [RCV001127456] |
Chr17:18179667 [GRCh38] Chr17:18082981 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.9612+9_10082del |
deletion |
Rare genetic deafness [RCV001195429] |
Chr17:18162687..18167722 [GRCh38] Chr17:18066001..18071036 [GRCh37] Chr17:17p11.2 |
pathogenic |
NM_016239.4(MYO15A):c.603G>C (p.Glu201Asp) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 3 [RCV001125262] |
Chr17:18119403 [GRCh38] Chr17:18022717 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.2000del (p.Pro667fs) |
deletion |
not provided [RCV001008482] |
Chr17:18120796 [GRCh38] Chr17:18024110 [GRCh37] Chr17:17p11.2 |
likely pathogenic |
NM_016239.4(MYO15A):c.1688G>T (p.Arg563Leu) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 3 [RCV001122574]|not provided [RCV003442209] |
Chr17:18120488 [GRCh38] Chr17:18023802 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.2978A>C (p.His993Pro) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 3 [RCV001122665] |
Chr17:18121778 [GRCh38] Chr17:18025092 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.5212-13G>A |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 3 [RCV001122876] |
Chr17:18140504 [GRCh38] Chr17:18043818 [GRCh37] Chr17:17p11.2 |
likely benign|uncertain significance |
NM_016239.4(MYO15A):c.5237A>G (p.His1746Arg) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 3 [RCV001122877] |
Chr17:18140542 [GRCh38] Chr17:18043856 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.4581del (p.Thr1528fs) |
deletion |
not provided [RCV001008956] |
Chr17:18135809 [GRCh38] Chr17:18039123 [GRCh37] Chr17:17p11.2 |
pathogenic |
NM_016239.4(MYO15A):c.7154A>G (p.Lys2385Arg) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 3 [RCV001126714] |
Chr17:18149522 [GRCh38] Chr17:18052836 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.7180C>G (p.Leu2394Val) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 3 [RCV001126715] |
Chr17:18149548 [GRCh38] Chr17:18052862 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.9872T>C (p.Leu3291Pro) |
single nucleotide variant |
not provided [RCV003233372] |
Chr17:18166445 [GRCh38] Chr17:18069759 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.4858G>A (p.Val1620Ile) |
single nucleotide variant |
not provided [RCV003104994] |
Chr17:18137662 [GRCh38] Chr17:18040976 [GRCh37] Chr17:17p11.2 |
likely benign |
NM_016239.4(MYO15A):c.8088+62A>G |
single nucleotide variant |
not provided [RCV001641956] |
Chr17:18153958 [GRCh38] Chr17:18057272 [GRCh37] Chr17:17p11.2 |
benign |
NM_016239.4(MYO15A):c.5910+17A>C |
single nucleotide variant |
not provided [RCV001576123] |
Chr17:18142857 [GRCh38] Chr17:18046171 [GRCh37] Chr17:17p11.2 |
benign|likely benign |
NM_016239.4(MYO15A):c.3756+1G>A |
single nucleotide variant |
not provided [RCV001576425] |
Chr17:18125232 [GRCh38] Chr17:18028546 [GRCh37] Chr17:17p11.2 |
pathogenic |
NM_016239.4(MYO15A):c.8968-37G>T |
single nucleotide variant |
not provided [RCV001569677] |
Chr17:18158486 [GRCh38] Chr17:18061800 [GRCh37] Chr17:17p11.2 |
likely benign |
NM_016239.4(MYO15A):c.4038+181G>A |
single nucleotide variant |
not provided [RCV001577223] |
Chr17:18130991 [GRCh38] Chr17:18034305 [GRCh37] Chr17:17p11.2 |
likely benign |
NM_016239.4(MYO15A):c.10216+22A>C |
single nucleotide variant |
not provided [RCV001578230] |
Chr17:18171793 [GRCh38] Chr17:18075107 [GRCh37] Chr17:17p11.2 |
likely benign |
NM_016239.4(MYO15A):c.2095C>T (p.Arg699Cys) |
single nucleotide variant |
not provided [RCV001567375] |
Chr17:18120895 [GRCh38] Chr17:18024209 [GRCh37] Chr17:17p11.2 |
likely benign |
NM_016239.4(MYO15A):c.5649+1G>T |
single nucleotide variant |
not provided [RCV001575493] |
Chr17:18141771 [GRCh38] Chr17:18045085 [GRCh37] Chr17:17p11.2 |
likely pathogenic |
NM_016239.4(MYO15A):c.9408G>C (p.Trp3136Cys) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 3 [RCV003317922]|not provided [RCV003443200] |
Chr17:18161338 [GRCh38] Chr17:18064652 [GRCh37] Chr17:17p11.2 |
pathogenic|likely pathogenic |
NM_016239.4(MYO15A):c.8730C>A (p.Cys2910Ter) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 3 [RCV001533147] |
Chr17:18157172 [GRCh38] Chr17:18060486 [GRCh37] Chr17:17p11.2 |
pathogenic |
NM_016239.4(MYO15A):c.6956+1G>A |
single nucleotide variant |
not provided [RCV001575836] |
Chr17:18148953 [GRCh38] Chr17:18052267 [GRCh37] Chr17:17p11.2 |
pathogenic|likely pathogenic |
NM_016239.4(MYO15A):c.6178-138dup |
duplication |
not provided [RCV001612060] |
Chr17:18144357..18144358 [GRCh38] Chr17:18047671..18047672 [GRCh37] Chr17:17p11.2 |
benign |
NM_016239.4(MYO15A):c.5844GAG[2] (p.Arg1950del) |
microsatellite |
not provided [RCV001560636] |
Chr17:18142774..18142776 [GRCh38] Chr17:18046088..18046090 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.-219-289G>A |
single nucleotide variant |
not provided [RCV001671480] |
Chr17:18118293 [GRCh38] Chr17:18021607 [GRCh37] Chr17:17p11.2 |
benign |
NM_016239.4(MYO15A):c.8460-55G>A |
single nucleotide variant |
not provided [RCV001684398] |
Chr17:18156140 [GRCh38] Chr17:18059454 [GRCh37] Chr17:17p11.2 |
benign |
NM_016239.4(MYO15A):c.5133+26A>C |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 3 [RCV001779287]|not provided [RCV001660785] |
Chr17:18138962 [GRCh38] Chr17:18042276 [GRCh37] Chr17:17p11.2 |
benign |
NM_016239.4(MYO15A):c.8971C>T (p.Pro2991Ser) |
single nucleotide variant |
not provided [RCV001593381] |
Chr17:18158526 [GRCh38] Chr17:18061840 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.4597-52C>T |
single nucleotide variant |
not provided [RCV001639086] |
Chr17:18136365 [GRCh38] Chr17:18039679 [GRCh37] Chr17:17p11.2 |
benign |
NM_016239.4(MYO15A):c.10350+296G>A |
single nucleotide variant |
not provided [RCV001679648] |
Chr17:18172586 [GRCh38] Chr17:18075900 [GRCh37] Chr17:17p11.2 |
benign |
NM_016239.4(MYO15A):c.3941+35G>C |
single nucleotide variant |
not provided [RCV001556296] |
Chr17:18126900 [GRCh38] Chr17:18030214 [GRCh37] Chr17:17p11.2 |
likely benign |
NM_016239.4(MYO15A):c.5531+135C>T |
single nucleotide variant |
not provided [RCV001685064] |
Chr17:18141278 [GRCh38] Chr17:18044592 [GRCh37] Chr17:17p11.2 |
benign |
NM_016239.4(MYO15A):c.4321-256A>G |
single nucleotide variant |
not provided [RCV001615710] |
Chr17:18132969 [GRCh38] Chr17:18036283 [GRCh37] Chr17:17p11.2 |
benign |
NM_016239.4(MYO15A):c.8065del (p.Trp2689fs) |
deletion |
not provided [RCV001561851] |
Chr17:18153873 [GRCh38] Chr17:18057187 [GRCh37] Chr17:17p11.2 |
pathogenic |
NM_016239.4(MYO15A):c.7787+76T>C |
single nucleotide variant |
not provided [RCV001654404] |
Chr17:18151603 [GRCh38] Chr17:18054917 [GRCh37] Chr17:17p11.2 |
benign |
NM_016239.4(MYO15A):c.7788-10A>G |
single nucleotide variant |
not provided [RCV001562807] |
Chr17:18151836 [GRCh38] Chr17:18055150 [GRCh37] Chr17:17p11.2 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_016239.4(MYO15A):c.4596+125A>T |
single nucleotide variant |
not provided [RCV001681950] |
Chr17:18135949 [GRCh38] Chr17:18039263 [GRCh37] Chr17:17p11.2 |
benign |
NM_016239.4(MYO15A):c.8789-196T>C |
single nucleotide variant |
not provided [RCV001557924] |
Chr17:18157526 [GRCh38] Chr17:18060840 [GRCh37] Chr17:17p11.2 |
likely benign |
NM_016239.4(MYO15A):c.6273+226_6273+227dup |
duplication |
not provided [RCV001718401] |
Chr17:18144800..18144801 [GRCh38] Chr17:18048114..18048115 [GRCh37] Chr17:17p11.2 |
benign |
NM_016239.4(MYO15A):c.3757-81G>A |
single nucleotide variant |
not provided [RCV001551994] |
Chr17:18126266 [GRCh38] Chr17:18029580 [GRCh37] Chr17:17p11.2 |
likely benign |
NM_016239.4(MYO15A):c.10202G>A (p.Arg3401His) |
single nucleotide variant |
not provided [RCV001546686] |
Chr17:18171757 [GRCh38] Chr17:18075071 [GRCh37] Chr17:17p11.2 |
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
NM_016239.4(MYO15A):c.2478A>C (p.Pro826=) |
single nucleotide variant |
not provided [RCV001570808] |
Chr17:18121278 [GRCh38] Chr17:18024592 [GRCh37] Chr17:17p11.2 |
likely benign |
NM_016239.4(MYO15A):c.9949-301C>G |
single nucleotide variant |
not provided [RCV001546946] |
Chr17:18167289 [GRCh38] Chr17:18070603 [GRCh37] Chr17:17p11.2 |
likely benign |
NM_016239.4(MYO15A):c.4876-8G>A |
single nucleotide variant |
not provided [RCV001588306] |
Chr17:18138107 [GRCh38] Chr17:18041421 [GRCh37] Chr17:17p11.2 |
likely benign |
NM_016239.4(MYO15A):c.10350+160C>G |
single nucleotide variant |
not provided [RCV001590090] |
Chr17:18172450 [GRCh38] Chr17:18075764 [GRCh37] Chr17:17p11.2 |
likely benign |
NM_016239.4(MYO15A):c.4597-272A>G |
single nucleotide variant |
not provided [RCV001574274] |
Chr17:18136145 [GRCh38] Chr17:18039459 [GRCh37] Chr17:17p11.2 |
likely benign |
NM_016239.4(MYO15A):c.10082+38G>A |
single nucleotide variant |
not provided [RCV001574304] |
Chr17:18167761 [GRCh38] Chr17:18071075 [GRCh37] Chr17:17p11.2 |
likely benign |
NM_016239.4(MYO15A):c.5211+51C>A |
single nucleotide variant |
not provided [RCV001609958] |
Chr17:18139662 [GRCh38] Chr17:18042976 [GRCh37] Chr17:17p11.2 |
benign |
NM_016239.4(MYO15A):c.2926C>T (p.Leu976Phe) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 3 [RCV001122664]|not provided [RCV000918226] |
Chr17:18121726 [GRCh38] Chr17:18025040 [GRCh37] Chr17:17p11.2 |
benign|uncertain significance |
NM_016239.4(MYO15A):c.8224+7C>T |
single nucleotide variant |
not provided [RCV000905013] |
Chr17:18154762 [GRCh38] Chr17:18058076 [GRCh37] Chr17:17p11.2 |
likely benign |
NM_016239.4(MYO15A):c.5406+7G>A |
single nucleotide variant |
not provided [RCV000932378] |
Chr17:18140839 [GRCh38] Chr17:18044153 [GRCh37] Chr17:17p11.2 |
likely benign |
NM_016239.4(MYO15A):c.4038+8GT[33] |
microsatellite |
not provided [RCV000954506] |
Chr17:18130817..18130818 [GRCh38] Chr17:18034131..18034132 [GRCh37] Chr17:17p11.2 |
benign |
NM_016239.4(MYO15A):c.3870C>T (p.His1290=) |
single nucleotide variant |
not provided [RCV000980413] |
Chr17:18126794 [GRCh38] Chr17:18030108 [GRCh37] Chr17:17p11.2 |
likely benign |
NM_016239.4(MYO15A):c.4038+8GT[31] |
microsatellite |
not provided [RCV000953039] |
Chr17:18130817..18130818 [GRCh38] Chr17:18034131..18034132 [GRCh37] Chr17:17p11.2 |
benign|likely benign |
NM_016239.4(MYO15A):c.2055G>C (p.Ser685=) |
single nucleotide variant |
not provided [RCV000901291] |
Chr17:18120855 [GRCh38] Chr17:18024169 [GRCh37] Chr17:17p11.2 |
likely benign |
NM_016239.4(MYO15A):c.6692-7G>A |
single nucleotide variant |
not provided [RCV000879679] |
Chr17:18148489 [GRCh38] Chr17:18051803 [GRCh37] Chr17:17p11.2 |
likely benign |
NM_016239.4(MYO15A):c.4038+8GT[24] |
microsatellite |
not provided [RCV000950472] |
Chr17:18130818..18130823 [GRCh38] Chr17:18034132..18034137 [GRCh37] Chr17:17p11.2 |
benign |
NM_016239.4(MYO15A):c.150G>A (p.Lys50=) |
single nucleotide variant |
not provided [RCV000915050] |
Chr17:18118950 [GRCh38] Chr17:18022264 [GRCh37] Chr17:17p11.2 |
likely benign |
NM_016239.4(MYO15A):c.165C>T (p.Ser55=) |
single nucleotide variant |
not provided [RCV000917331] |
Chr17:18118965 [GRCh38] Chr17:18022279 [GRCh37] Chr17:17p11.2 |
likely benign |
NM_016239.4(MYO15A):c.1359C>T (p.Pro453=) |
single nucleotide variant |
not provided [RCV000910867] |
Chr17:18120159 [GRCh38] Chr17:18023473 [GRCh37] Chr17:17p11.2 |
likely benign |
NM_016239.4(MYO15A):c.4710G>A (p.Arg1570=) |
single nucleotide variant |
not provided [RCV000933397] |
Chr17:18136617 [GRCh38] Chr17:18039931 [GRCh37] Chr17:17p11.2 |
likely benign |
NM_016239.4(MYO15A):c.2445C>T (p.Arg815=) |
single nucleotide variant |
not provided [RCV000902355] |
Chr17:18121245 [GRCh38] Chr17:18024559 [GRCh37] Chr17:17p11.2 |
likely benign |
NM_016239.4(MYO15A):c.768G>A (p.Glu256=) |
single nucleotide variant |
not provided [RCV000929337] |
Chr17:18119568 [GRCh38] Chr17:18022882 [GRCh37] Chr17:17p11.2 |
likely benign |
NM_016239.4(MYO15A):c.2823C>T (p.Ser941=) |
single nucleotide variant |
not provided [RCV000887084] |
Chr17:18121623 [GRCh38] Chr17:18024937 [GRCh37] Chr17:17p11.2 |
likely benign |
NM_016239.4(MYO15A):c.6654G>A (p.Glu2218=) |
single nucleotide variant |
not provided [RCV000887085] |
Chr17:18148173 [GRCh38] Chr17:18051487 [GRCh37] Chr17:17p11.2 |
likely benign |
NM_016239.4(MYO15A):c.4038+8GT[21] |
microsatellite |
not provided [RCV000909622] |
Chr17:18130818..18130829 [GRCh38] Chr17:18034132..18034143 [GRCh37] Chr17:17p11.2 |
likely benign |
NM_016239.4(MYO15A):c.6795C>T (p.Thr2265=) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 3 [RCV001124059]|not provided [RCV000933448] |
Chr17:18148791 [GRCh38] Chr17:18052105 [GRCh37] Chr17:17p11.2 |
benign|likely benign|uncertain significance |
NM_016239.4(MYO15A):c.4038+8GT[18] |
microsatellite |
not provided [RCV000899018] |
Chr17:18130818..18130835 [GRCh38] Chr17:18034132..18034149 [GRCh37] Chr17:17p11.2 |
benign |
GRCh37/hg19 17p11.2(chr17:17805688-18067279)x1 |
copy number loss |
not provided [RCV001006879] |
Chr17:17805688..18067279 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.8089-7C>G |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 3 [RCV001126831] |
Chr17:18154124 [GRCh38] Chr17:18057438 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.6255C>T (p.Ala2085=) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 3 [RCV001127024] |
Chr17:18144574 [GRCh38] Chr17:18047888 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.6273+15C>G |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 3 [RCV001127025] |
Chr17:18144607 [GRCh38] Chr17:18047921 [GRCh37] Chr17:17p11.2 |
likely benign|uncertain significance |
NM_016239.4(MYO15A):c.9912C>T (p.Phe3304=) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 3 [RCV001127347] |
Chr17:18166485 [GRCh38] Chr17:18069799 [GRCh37] Chr17:17p11.2 |
likely benign|uncertain significance |
NM_016239.4(MYO15A):c.8162C>A (p.Thr2721Lys) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 3 [RCV001089567] |
Chr17:18154693 [GRCh38] Chr17:18058007 [GRCh37] Chr17:17p11.2 |
pathogenic|likely pathogenic |
NM_016239.4(MYO15A):c.2805C>T (p.Pro935=) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 3 [RCV001122662] |
Chr17:18121605 [GRCh38] Chr17:18024919 [GRCh37] Chr17:17p11.2 |
likely benign|uncertain significance |
NM_016239.4(MYO15A):c.7782C>A (p.Ala2594=) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 3 [RCV001123078] |
Chr17:18151522 [GRCh38] Chr17:18054836 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.8825G>A (p.Arg2942His) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 3 [RCV001123166] |
Chr17:18157758 [GRCh38] Chr17:18061072 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.-224C>T |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 3 [RCV001128211] |
Chr17:18108820 [GRCh38] Chr17:18012134 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.1259C>T (p.Ser420Leu) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 3 [RCV001128289] |
Chr17:18120059 [GRCh38] Chr17:18023373 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.2612C>T (p.Thr871Met) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 3 [RCV001128383] |
Chr17:18121412 [GRCh38] Chr17:18024726 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.3679A>G (p.Met1227Val) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 3 [RCV001128471] |
Chr17:18124552 [GRCh38] Chr17:18027866 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.9506T>C (p.Leu3169Pro) |
single nucleotide variant |
not provided [RCV000911094] |
Chr17:18161436 [GRCh38] Chr17:18064750 [GRCh37] Chr17:17p11.2 |
likely benign |
NM_016239.4(MYO15A):c.9423C>T (p.Ile3141=) |
single nucleotide variant |
not provided [RCV000890495] |
Chr17:18161353 [GRCh38] Chr17:18064667 [GRCh37] Chr17:17p11.2 |
likely benign |
NM_016239.4(MYO15A):c.8346C>T (p.Ser2782=) |
single nucleotide variant |
not provided [RCV000913668] |
Chr17:18155319 [GRCh38] Chr17:18058633 [GRCh37] Chr17:17p11.2 |
likely benign |
NM_016239.4(MYO15A):c.1041G>A (p.Ala347=) |
single nucleotide variant |
not provided [RCV000911455] |
Chr17:18119841 [GRCh38] Chr17:18023155 [GRCh37] Chr17:17p11.2 |
likely benign |
NM_016239.4(MYO15A):c.7202A>G (p.Tyr2401Cys) |
single nucleotide variant |
not provided [RCV000911092] |
Chr17:18149570 [GRCh38] Chr17:18052884 [GRCh37] Chr17:17p11.2 |
likely benign |
NM_016239.4(MYO15A):c.7788-5C>T |
single nucleotide variant |
not provided [RCV000911093] |
Chr17:18151841 [GRCh38] Chr17:18055155 [GRCh37] Chr17:17p11.2 |
benign |
NM_016239.4(MYO15A):c.4032+226A>T |
single nucleotide variant |
not provided [RCV001577149] |
Chr17:18127391 [GRCh38] Chr17:18030705 [GRCh37] Chr17:17p11.2 |
likely benign |
NM_016239.4(MYO15A):c.2729C>A (p.Pro910Gln) |
single nucleotide variant |
Inborn genetic diseases [RCV002836627] |
Chr17:18121529 [GRCh38] Chr17:18024843 [GRCh37] Chr17:17p11.2 |
likely benign |
NM_016239.4(MYO15A):c.2354G>T (p.Gly785Val) |
single nucleotide variant |
not provided [RCV001556791] |
Chr17:18121154 [GRCh38] Chr17:18024468 [GRCh37] Chr17:17p11.2 |
likely benign |
NM_016239.4(MYO15A):c.4602_4603del (p.Met1535fs) |
deletion |
not provided [RCV001557013] |
Chr17:18136422..18136423 [GRCh38] Chr17:18039736..18039737 [GRCh37] Chr17:17p11.2 |
pathogenic |
NM_016239.4(MYO15A):c.6611G>T (p.Arg2204Leu) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 3 [RCV003232059] |
Chr17:18148130 [GRCh38] Chr17:18051444 [GRCh37] Chr17:17p11.2 |
likely pathogenic |
NM_016239.4(MYO15A):c.8149-87A>G |
single nucleotide variant |
not provided [RCV001677278] |
Chr17:18154593 [GRCh38] Chr17:18057907 [GRCh37] Chr17:17p11.2 |
benign |
NM_016239.4(MYO15A):c.8944C>G (p.Gln2982Glu) |
single nucleotide variant |
not provided [RCV001732511] |
Chr17:18157877 [GRCh38] Chr17:18061191 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.2014T>C (p.Ser672Pro) |
single nucleotide variant |
not provided [RCV001563124] |
Chr17:18120814 [GRCh38] Chr17:18024128 [GRCh37] Chr17:17p11.2 |
likely benign |
NM_016239.4(MYO15A):c.9517+180T>G |
single nucleotide variant |
not provided [RCV001598294] |
Chr17:18161627 [GRCh38] Chr17:18064941 [GRCh37] Chr17:17p11.2 |
benign |
NM_016239.4(MYO15A):c.8488C>A (p.Pro2830Thr) |
single nucleotide variant |
not provided [RCV003328030] |
Chr17:18156223 [GRCh38] Chr17:18059537 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.1858G>T (p.Glu620Ter) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 3 [RCV002251010] |
Chr17:18120658 [GRCh38] Chr17:18023972 [GRCh37] Chr17:17p11.2 |
likely pathogenic |
NM_016239.4(MYO15A):c.581G>A (p.Arg194His) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 3 [RCV002251207] |
Chr17:18119381 [GRCh38] Chr17:18022695 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.10083-8G>A |
single nucleotide variant |
not provided [RCV001553277] |
Chr17:18171630 [GRCh38] Chr17:18074944 [GRCh37] Chr17:17p11.2 |
likely benign |
NM_016239.4(MYO15A):c.9229+49C>T |
single nucleotide variant |
not provided [RCV001555139] |
Chr17:18159396 [GRCh38] Chr17:18062710 [GRCh37] Chr17:17p11.2 |
likely benign |
NM_016239.4(MYO15A):c.4038+78G>A |
single nucleotide variant |
not provided [RCV001565854] |
Chr17:18130888 [GRCh38] Chr17:18034202 [GRCh37] Chr17:17p11.2 |
likely benign |
NM_016239.4(MYO15A):c.3866+35T>C |
single nucleotide variant |
not provided [RCV001594208] |
Chr17:18126491 [GRCh38] Chr17:18029805 [GRCh37] Chr17:17p11.2 |
likely benign |
NM_016239.4(MYO15A):c.3693-123G>A |
single nucleotide variant |
not provided [RCV001594260] |
Chr17:18125045 [GRCh38] Chr17:18028359 [GRCh37] Chr17:17p11.2 |
likely benign |
NM_016239.4(MYO15A):c.8019del (p.His2674fs) |
deletion |
not provided [RCV001596520] |
Chr17:18153827 [GRCh38] Chr17:18057141 [GRCh37] Chr17:17p11.2 |
pathogenic |
NM_016239.4(MYO15A):c.3866+18G>A |
single nucleotide variant |
not provided [RCV001568946] |
Chr17:18126474 [GRCh38] Chr17:18029788 [GRCh37] Chr17:17p11.2 |
benign|likely benign |
NM_016239.4(MYO15A):c.2302C>A (p.Arg768=) |
single nucleotide variant |
not provided [RCV001560952] |
Chr17:18121102 [GRCh38] Chr17:18024416 [GRCh37] Chr17:17p11.2 |
likely benign |
NM_016239.4(MYO15A):c.7967-33T>C |
single nucleotide variant |
not provided [RCV001569154] |
Chr17:18153742 [GRCh38] Chr17:18057056 [GRCh37] Chr17:17p11.2 |
likely benign |
NM_016239.4(MYO15A):c.8750T>A (p.Val2917Glu) |
single nucleotide variant |
not provided [RCV002467212] |
Chr17:18157192 [GRCh38] Chr17:18060506 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.3756+5G>T |
single nucleotide variant |
not provided [RCV002464719] |
Chr17:18125236 [GRCh38] Chr17:18028550 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.9765_9766insGG (p.Ile3256fs) |
insertion |
Autosomal recessive nonsyndromic hearing loss 3 [RCV001824912]|not provided [RCV001008493] |
Chr17:18163816..18163817 [GRCh38] Chr17:18067130..18067131 [GRCh37] Chr17:17p11.2 |
pathogenic|likely pathogenic|not provided |
NM_016239.4(MYO15A):c.8602-76G>A |
single nucleotide variant |
not provided [RCV001649942] |
Chr17:18156878 [GRCh38] Chr17:18060192 [GRCh37] Chr17:17p11.2 |
benign |
NM_016239.4(MYO15A):c.2163C>T (p.Phe721=) |
single nucleotide variant |
not provided [RCV001541206] |
Chr17:18120963 [GRCh38] Chr17:18024277 [GRCh37] Chr17:17p11.2 |
likely benign |
NM_016239.4(MYO15A):c.8789-161C>T |
single nucleotide variant |
not provided [RCV001715850] |
Chr17:18157561 [GRCh38] Chr17:18060875 [GRCh37] Chr17:17p11.2 |
benign |
NM_016239.4(MYO15A):c.6764+93T>C |
single nucleotide variant |
not provided [RCV001695657] |
Chr17:18148661 [GRCh38] Chr17:18051975 [GRCh37] Chr17:17p11.2 |
benign |
NM_016239.4(MYO15A):c.3866+87C>T |
single nucleotide variant |
not provided [RCV001657010] |
Chr17:18126543 [GRCh38] Chr17:18029857 [GRCh37] Chr17:17p11.2 |
benign |
NM_016239.4(MYO15A):c.5407-63T>C |
single nucleotide variant |
not provided [RCV001655356] |
Chr17:18140956 [GRCh38] Chr17:18044270 [GRCh37] Chr17:17p11.2 |
benign |
NM_016239.4(MYO15A):c.3141C>G (p.Pro1047=) |
single nucleotide variant |
not provided [RCV001589417] |
Chr17:18121941 [GRCh38] Chr17:18025255 [GRCh37] Chr17:17p11.2 |
likely benign |
NM_016239.4(MYO15A):c.9387-315C>T |
single nucleotide variant |
not provided [RCV001685138] |
Chr17:18161002 [GRCh38] Chr17:18064316 [GRCh37] Chr17:17p11.2 |
benign |
NM_016239.4(MYO15A):c.9229+29C>G |
single nucleotide variant |
not provided [RCV001539222] |
Chr17:18159376 [GRCh38] Chr17:18062690 [GRCh37] Chr17:17p11.2 |
likely benign |
NM_016239.4(MYO15A):c.4666G>A (p.Ala1556Thr) |
single nucleotide variant |
not provided [RCV001723390] |
Chr17:18136573 [GRCh38] Chr17:18039887 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.9949-143G>A |
single nucleotide variant |
not provided [RCV001597331] |
Chr17:18167447 [GRCh38] Chr17:18070761 [GRCh37] Chr17:17p11.2 |
benign |
NM_016239.4(MYO15A):c.9787+252A>G |
single nucleotide variant |
not provided [RCV001672233] |
Chr17:18164090 [GRCh38] Chr17:18067404 [GRCh37] Chr17:17p11.2 |
benign |
NM_016239.4(MYO15A):c.6273+225_6273+227dup |
duplication |
not provided [RCV001654936] |
Chr17:18144800..18144801 [GRCh38] Chr17:18048114..18048115 [GRCh37] Chr17:17p11.2 |
benign |
NM_016239.4(MYO15A):c.10082+1G>A |
single nucleotide variant |
not provided [RCV001723458] |
Chr17:18167724 [GRCh38] Chr17:18071038 [GRCh37] Chr17:17p11.2 |
pathogenic|likely pathogenic |
NM_016239.4(MYO15A):c.5211+181G>A |
single nucleotide variant |
not provided [RCV001616819] |
Chr17:18139792 [GRCh38] Chr17:18043106 [GRCh37] Chr17:17p11.2 |
benign |
NM_016239.4(MYO15A):c.9948+227A>G |
single nucleotide variant |
not provided [RCV001650235] |
Chr17:18166748 [GRCh38] Chr17:18070062 [GRCh37] Chr17:17p11.2 |
benign |
NM_016239.4(MYO15A):c.9785G>A (p.Arg3262His) |
single nucleotide variant |
not provided [RCV001653051] |
Chr17:18163836 [GRCh38] Chr17:18067150 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.9518-162G>C |
single nucleotide variant |
not provided [RCV001715786] |
Chr17:18162423 [GRCh38] Chr17:18065737 [GRCh37] Chr17:17p11.2 |
benign |
NM_016239.4(MYO15A):c.5910+136T>C |
single nucleotide variant |
not provided [RCV001715466] |
Chr17:18142976 [GRCh38] Chr17:18046290 [GRCh37] Chr17:17p11.2 |
benign |
NM_016239.4(MYO15A):c.2174C>G (p.Pro725Arg) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 3 [RCV002477875]|not provided [RCV001658828] |
Chr17:18120974 [GRCh38] Chr17:18024288 [GRCh37] Chr17:17p11.2 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_016239.4(MYO15A):c.3867-24A>C |
single nucleotide variant |
not provided [RCV001596030] |
Chr17:18126767 [GRCh38] Chr17:18030081 [GRCh37] Chr17:17p11.2 |
likely benign |
NM_016239.4(MYO15A):c.9517+36G>A |
single nucleotide variant |
not provided [RCV001689260] |
Chr17:18161483 [GRCh38] Chr17:18064797 [GRCh37] Chr17:17p11.2 |
benign |
NM_016239.4(MYO15A):c.2012G>A (p.Ser671Asn) |
single nucleotide variant |
Inborn genetic diseases [RCV003161158]|not provided [RCV001658890] |
Chr17:18120812 [GRCh38] Chr17:18024126 [GRCh37] Chr17:17p11.2 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_016239.4(MYO15A):c.6457G>A (p.Ala2153Thr) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 3 [RCV001122991]|Inborn genetic diseases [RCV002558217] |
Chr17:18146055 [GRCh38] Chr17:18049369 [GRCh37] Chr17:17p11.2 |
likely benign|uncertain significance |
NM_016239.4(MYO15A):c.6601G>C (p.Gly2201Arg) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 3 [RCV001122992] |
Chr17:18148120 [GRCh38] Chr17:18051434 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.7662C>A (p.Pro2554=) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 3 [RCV001123075] |
Chr17:18151402 [GRCh38] Chr17:18054716 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.-236C>A |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 3 [RCV001128210] |
Chr17:18108808 [GRCh38] Chr17:18012122 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.3320G>A (p.Arg1107His) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 3 [RCV001123768] |
Chr17:18122120 [GRCh38] Chr17:18025434 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.7990C>A (p.Pro2664Thr) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 3 [RCV001124161] |
Chr17:18153798 [GRCh38] Chr17:18057112 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.*210A>G |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 3 [RCV001125370] |
Chr17:18179080 [GRCh38] Chr17:18082394 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.*369C>T |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 3 [RCV001125372] |
Chr17:18179239 [GRCh38] Chr17:18082553 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.2045C>T (p.Pro682Leu) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 3 [RCV001126337]|Inborn genetic diseases [RCV002556743]|not provided [RCV001664700] |
Chr17:18120845 [GRCh38] Chr17:18024159 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.7745_8224+177delinsCTCCCCGGAACGGCTGCTGGTAC |
indel |
Autosomal recessive nonsyndromic hearing loss 3 [RCV001004801] |
Chr17:18151485..18154932 [GRCh38] Chr17:18054799..18058246 [GRCh37] Chr17:17p11.2 |
pathogenic |
NM_016239.4(MYO15A):c.853G>A (p.Asp285Asn) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 3 [RCV001126237] |
Chr17:18119653 [GRCh38] Chr17:18022967 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.2070G>C (p.Pro690=) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 3 [RCV001126338] |
Chr17:18120870 [GRCh38] Chr17:18024184 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.2116G>A (p.Ala706Thr) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 3 [RCV001126339]|Inborn genetic diseases [RCV002556744]|not provided [RCV001856653] |
Chr17:18120916 [GRCh38] Chr17:18024230 [GRCh37] Chr17:17p11.2 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_016239.4(MYO15A):c.8651C>T (p.Ala2884Val) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 3 [RCV001127232] |
Chr17:18157003 [GRCh38] Chr17:18060317 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.9755A>G (p.Asn3252Ser) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 3 [RCV001127345] |
Chr17:18163806 [GRCh38] Chr17:18067120 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.7266C>T (p.Pro2422=) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 3 [RCV001126716]|not provided [RCV002556759] |
Chr17:18150482 [GRCh38] Chr17:18053796 [GRCh37] Chr17:17p11.2 |
likely benign|uncertain significance |
NM_016239.4(MYO15A):c.8315A>C (p.Tyr2772Ser) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 3 [RCV001126832] |
Chr17:18155200 [GRCh38] Chr17:18058514 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.9585C>T (p.Pro3195=) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 3 [RCV001126925] |
Chr17:18162652 [GRCh38] Chr17:18065966 [GRCh37] Chr17:17p11.2 |
likely benign|uncertain significance |
NM_016239.4(MYO15A):c.7763G>A (p.Arg2588Gln) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 3 [RCV001123077] |
Chr17:18151503 [GRCh38] Chr17:18054817 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.9859G>A (p.Gly3287Ser) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 3 [RCV001127346] |
Chr17:18166432 [GRCh38] Chr17:18069746 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.63G>A (p.Pro21=) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 3 [RCV001122476] |
Chr17:18118863 [GRCh38] Chr17:18022177 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.1613G>A (p.Arg538His) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 3 [RCV001122573]|Inborn genetic diseases [RCV002556643]|not provided [RCV003324817] |
Chr17:18120413 [GRCh38] Chr17:18023727 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.1444C>G (p.Arg482Gly) |
single nucleotide variant |
not specified [RCV001195241] |
Chr17:18120244 [GRCh38] Chr17:18023558 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.-223G>T |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 3 [RCV001128212] |
Chr17:18108821 [GRCh38] Chr17:18012135 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.917G>A (p.Gly306Asp) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 3 [RCV001128285]|not provided [RCV002556805] |
Chr17:18119717 [GRCh38] Chr17:18023031 [GRCh37] Chr17:17p11.2 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_016239.4(MYO15A):c.4391T>C (p.Val1464Ala) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 3 [RCV001123865] |
Chr17:18133295 [GRCh38] Chr17:18036609 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.*535G>A |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 3 [RCV001127454] |
Chr17:18179405 [GRCh38] Chr17:18082719 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.*649C>T |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 3 [RCV001127455] |
Chr17:18179519 [GRCh38] Chr17:18082833 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.9741C>A (p.Arg3247=) |
single nucleotide variant |
not provided [RCV002069273]|not specified [RCV001195459] |
Chr17:18163792 [GRCh38] Chr17:18067106 [GRCh37] Chr17:17p11.2 |
likely benign |
NM_016239.4(MYO15A):c.8928C>G (p.Ala2976=) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 3 [RCV001123168] |
Chr17:18157861 [GRCh38] Chr17:18061175 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.9072G>A (p.Gln3024=) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 3 [RCV001123170]|not provided [RCV002556659] |
Chr17:18158627 [GRCh38] Chr17:18061941 [GRCh37] Chr17:17p11.2 |
likely benign|uncertain significance |
NM_016239.4(MYO15A):c.3807A>G (p.Gly1269=) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 3 [RCV001128472] |
Chr17:18126397 [GRCh38] Chr17:18029711 [GRCh37] Chr17:17p11.2 |
likely benign|uncertain significance |
NM_016239.4(MYO15A):c.5407-5T>G |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 3 [RCV001122879] |
Chr17:18141014 [GRCh38] Chr17:18044328 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.1903G>C (p.Ala635Pro) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 3 [RCV001123658] |
Chr17:18120703 [GRCh38] Chr17:18024017 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.8788+230_8788+233del |
deletion |
not provided [RCV001614080] |
Chr17:18157459..18157462 [GRCh38] Chr17:18060773..18060776 [GRCh37] Chr17:17p11.2 |
benign |
NM_016239.4(MYO15A):c.10082+175C>T |
single nucleotide variant |
not provided [RCV001710529] |
Chr17:18167898 [GRCh38] Chr17:18071212 [GRCh37] Chr17:17p11.2 |
benign |
NM_016239.4(MYO15A):c.6273+227dup |
duplication |
not provided [RCV001714734] |
Chr17:18144800..18144801 [GRCh38] Chr17:18048114..18048115 [GRCh37] Chr17:17p11.2 |
benign |
NM_016239.4(MYO15A):c.9387-141A>G |
single nucleotide variant |
not provided [RCV001588674] |
Chr17:18161176 [GRCh38] Chr17:18064490 [GRCh37] Chr17:17p11.2 |
likely benign |
NM_016239.4(MYO15A):c.3751A>C (p.Ile1251Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV002559648]|not provided [RCV001171927] |
Chr17:18125226 [GRCh38] Chr17:18028540 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.5197C>A (p.Arg1733=) |
single nucleotide variant |
not provided [RCV001171928] |
Chr17:18139597 [GRCh38] Chr17:18042911 [GRCh37] Chr17:17p11.2 |
likely benign |
NM_016239.4(MYO15A):c.2150G>C (p.Ser717Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV002579457]|not provided [RCV001587781] |
Chr17:18120950 [GRCh38] Chr17:18024264 [GRCh37] Chr17:17p11.2 |
likely benign|uncertain significance |
NM_016239.4(MYO15A):c.3693-164C>G |
single nucleotide variant |
not provided [RCV001708659] |
Chr17:18125004 [GRCh38] Chr17:18028318 [GRCh37] Chr17:17p11.2 |
benign |
NM_016239.4(MYO15A):c.6957-64= |
single nucleotide variant |
not provided [RCV001708518] |
Chr17:18149152 [GRCh38] Chr17:18052466 [GRCh37] Chr17:17p11.2 |
benign |
NM_016239.4(MYO15A):c.9371dup (p.Asn3124fs) |
duplication |
Autosomal recessive nonsyndromic hearing loss 3 [RCV001089568] |
Chr17:18160000..18160001 [GRCh38] Chr17:18063314..18063315 [GRCh37] Chr17:17p11.2 |
likely pathogenic |
NM_016239.4(MYO15A):c.5212-65C>G |
single nucleotide variant |
not provided [RCV001692505] |
Chr17:18140452 [GRCh38] Chr17:18043766 [GRCh37] Chr17:17p11.2 |
benign |
NM_016239.4(MYO15A):c.6274-49G>A |
single nucleotide variant |
not provided [RCV001616435] |
Chr17:18145823 [GRCh38] Chr17:18049137 [GRCh37] Chr17:17p11.2 |
benign |
NM_016239.4(MYO15A):c.4206+174G>A |
single nucleotide variant |
not provided [RCV001648457] |
Chr17:18131705 [GRCh38] Chr17:18035019 [GRCh37] Chr17:17p11.2 |
benign |
NM_016239.4(MYO15A):c.9612+149C>T |
single nucleotide variant |
not provided [RCV001615843] |
Chr17:18162828 [GRCh38] Chr17:18066142 [GRCh37] Chr17:17p11.2 |
benign |
NM_016239.4(MYO15A):c.8061C>A (p.Ala2687=) |
single nucleotide variant |
not provided [RCV001546411] |
Chr17:18153869 [GRCh38] Chr17:18057183 [GRCh37] Chr17:17p11.2 |
likely benign |
NM_016239.4(MYO15A):c.5407-62G>A |
single nucleotide variant |
not provided [RCV001590044] |
Chr17:18140957 [GRCh38] Chr17:18044271 [GRCh37] Chr17:17p11.2 |
likely benign |
NM_016239.4(MYO15A):c.8968-309T>G |
single nucleotide variant |
not provided [RCV001536421] |
Chr17:18158214 [GRCh38] Chr17:18061528 [GRCh37] Chr17:17p11.2 |
benign |
NM_016239.4(MYO15A):c.4038+15T>C |
single nucleotide variant |
not provided [RCV001545433] |
Chr17:18130825 [GRCh38] Chr17:18034139 [GRCh37] Chr17:17p11.2 |
likely benign |
NM_016239.4(MYO15A):c.9156+132G>A |
single nucleotide variant |
not provided [RCV001710245] |
Chr17:18159129 [GRCh38] Chr17:18062443 [GRCh37] Chr17:17p11.2 |
benign |
NM_016239.4(MYO15A):c.3122C>A (p.Pro1041His) |
single nucleotide variant |
Inborn genetic diseases [RCV002559238]|not provided [RCV001876269]|not specified [RCV001195456] |
Chr17:18121922 [GRCh38] Chr17:18025236 [GRCh37] Chr17:17p11.2 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_016239.4(MYO15A):c.5217G>A (p.Val1739=) |
single nucleotide variant |
not specified [RCV001195460] |
Chr17:18140522 [GRCh38] Chr17:18043836 [GRCh37] Chr17:17p11.2 |
likely benign |
NM_016239.4(MYO15A):c.2677C>T (p.Arg893Ter) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 3 [RCV001199126]|Hearing impairment [RCV001375261] |
Chr17:18121477 [GRCh38] Chr17:18024791 [GRCh37] Chr17:17p11.2 |
likely pathogenic |
NM_016239.4(MYO15A):c.7894-3C>T |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 3 [RCV001123079] |
Chr17:18152109 [GRCh38] Chr17:18055423 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.9067C>T (p.Pro3023Ser) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 3 [RCV001123169] |
Chr17:18158622 [GRCh38] Chr17:18061936 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.3133A>C (p.Thr1045Pro) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 3 [RCV001123763]|not provided [RCV001472463]|not specified [RCV001195457] |
Chr17:18121933 [GRCh38] Chr17:18025247 [GRCh37] Chr17:17p11.2 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_016239.4(MYO15A):c.3275C>T (p.Ala1092Val) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 3 [RCV001123767] |
Chr17:18122075 [GRCh38] Chr17:18025389 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.5776C>T (p.Arg1926Cys) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 3 [RCV001123947] |
Chr17:18142205 [GRCh38] Chr17:18045519 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.10420A>G (p.Ser3474Gly) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 3 [RCV001124371]|not provided [RCV001517572] |
Chr17:18173850 [GRCh38] Chr17:18077164 [GRCh37] Chr17:17p11.2 |
benign|likely benign|uncertain significance |
NM_016239.4(MYO15A):c.6554A>T (p.Gln2185Leu) |
single nucleotide variant |
not provided [RCV001171929] |
Chr17:18148073 [GRCh38] Chr17:18051387 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.3317G>A (p.Arg1106Gln) |
single nucleotide variant |
Inborn genetic diseases [RCV003363133]|not provided [RCV001171926] |
Chr17:18122117 [GRCh38] Chr17:18025431 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.6371G>A (p.Arg2124Gln) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 3 [RCV002491675]|not provided [RCV001217315] |
Chr17:18145969 [GRCh38] Chr17:18049283 [GRCh37] Chr17:17p11.2 |
pathogenic|likely pathogenic |
NM_016239.4(MYO15A):c.*324T>G |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 3 [RCV001125371] |
Chr17:18179194 [GRCh38] Chr17:18082508 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.4898T>C (p.Ile1633Thr) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 3 [RCV002224975]|not specified [RCV001195238] |
Chr17:18138137 [GRCh38] Chr17:18041451 [GRCh37] Chr17:17p11.2 |
likely pathogenic|uncertain significance |
NM_016239.4(MYO15A):c.4026G>A (p.Met1342Ile) |
single nucleotide variant |
not specified [RCV001195242] |
Chr17:18127159 [GRCh38] Chr17:18030473 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.1589C>T (p.Pro530Leu) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 3 [RCV001122572]|Inborn genetic diseases [RCV002556642] |
Chr17:18120389 [GRCh38] Chr17:18023703 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.4038+11T>A |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 3 [RCV001122776] |
Chr17:18130821 [GRCh38] Chr17:18034135 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.2200G>A (p.Asp734Asn) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 3 [RCV001126340] |
Chr17:18121000 [GRCh38] Chr17:18024314 [GRCh37] Chr17:17p11.2 |
likely benign|uncertain significance |
NM_016239.4(MYO15A):c.4015C>T (p.Arg1339Trp) |
single nucleotide variant |
not provided [RCV002560188]|not specified [RCV001195237] |
Chr17:18127148 [GRCh38] Chr17:18030462 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.5288G>A (p.Arg1763Gln) |
single nucleotide variant |
not provided [RCV003327493]|not specified [RCV001195243] |
Chr17:18140593 [GRCh38] Chr17:18043907 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.3006del (p.Lys1003fs) |
deletion |
Rare genetic deafness [RCV001195278] |
Chr17:18121805 [GRCh38] Chr17:18025119 [GRCh37] Chr17:17p11.2 |
pathogenic|likely pathogenic |
NM_016239.4(MYO15A):c.4454T>C (p.Leu1485Pro) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 3 [RCV001249185] |
Chr17:18133358 [GRCh38] Chr17:18036672 [GRCh37] Chr17:17p11.2 |
likely pathogenic |
NM_016239.4(MYO15A):c.8115C>T (p.Ser2705=) |
single nucleotide variant |
not specified [RCV001195462] |
Chr17:18154157 [GRCh38] Chr17:18057471 [GRCh37] Chr17:17p11.2 |
likely benign |
NM_016239.4(MYO15A):c.8892C>T (p.Gly2964=) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 3 [RCV001123167]|not provided [RCV002558219] |
Chr17:18157825 [GRCh38] Chr17:18061139 [GRCh37] Chr17:17p11.2 |
likely benign|uncertain significance |
NM_016239.4(MYO15A):c.9706G>A (p.Val3236Met) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 3 [RCV001126928] |
Chr17:18163757 [GRCh38] Chr17:18067071 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.8334C>T (p.Pro2778=) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 3 [RCV001127230]|not provided [RCV002070080] |
Chr17:18155219 [GRCh38] Chr17:18058533 [GRCh37] Chr17:17p11.2 |
likely benign|uncertain significance |
NM_016239.4(MYO15A):c.9984T>C (p.Ser3328=) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 3 [RCV001127348] |
Chr17:18167625 [GRCh38] Chr17:18070939 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.6899A>C (p.Lys2300Thr) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 3 [RCV001124060]|Inborn genetic diseases [RCV002556686] |
Chr17:18148895 [GRCh38] Chr17:18052209 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.9467T>C (p.Leu3156Pro) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 3 [RCV001124254]|Hearing impairment [RCV001849474] |
Chr17:18161397 [GRCh38] Chr17:18064711 [GRCh37] Chr17:17p11.2 |
likely pathogenic|uncertain significance |
NM_016239.4(MYO15A):c.2920C>T (p.Pro974Ser) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 3 [RCV001122663] |
Chr17:18121720 [GRCh38] Chr17:18025034 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.1043C>A (p.Pro348Gln) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 3 [RCV001128286]|Inborn genetic diseases [RCV002558259] |
Chr17:18119843 [GRCh38] Chr17:18023157 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.3891C>T (p.Leu1297=) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 3 [RCV001128475] |
Chr17:18126815 [GRCh38] Chr17:18030129 [GRCh37] Chr17:17p11.2 |
likely benign|uncertain significance |
NM_016239.4(MYO15A):c.4507G>T (p.Val1503Leu) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 3 [RCV001123867] |
Chr17:18135735 [GRCh38] Chr17:18039049 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.8054A>G (p.Gln2685Arg) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 3 [RCV001124162] |
Chr17:18153862 [GRCh38] Chr17:18057176 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.*473G>A |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 3 [RCV001125373] |
Chr17:18179343 [GRCh38] Chr17:18082657 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.4207-3C>G |
single nucleotide variant |
not specified [RCV001195240] |
Chr17:18132450 [GRCh38] Chr17:18035764 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.3988C>T (p.Arg1330Cys) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 3 [RCV001122774]|not provided [RCV001776119] |
Chr17:18127121 [GRCh38] Chr17:18030435 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.5354T>C (p.Met1785Thr) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 3 [RCV001122878]|Inborn genetic diseases [RCV002556650] |
Chr17:18140659 [GRCh38] Chr17:18043973 [GRCh37] Chr17:17p11.2 |
uncertain significance |
GRCh37/hg19 17p11.2(chr17:16763370-20395611)x1 |
copy number loss |
not provided [RCV001259291] |
Chr17:16763370..20395611 [GRCh37] Chr17:17p11.2 |
pathogenic |
GRCh37/hg19 17p12-11.2(chr17:15810015-18537436)x1 |
copy number loss |
not provided [RCV001259296] |
Chr17:15810015..18537436 [GRCh37] Chr17:17p12-11.2 |
pathogenic |
NM_016239.4(MYO15A):c.4057del (p.Leu1353fs) |
deletion |
Inborn genetic diseases [RCV001267193]|not provided [RCV002537697] |
Chr17:18131254 [GRCh38] Chr17:18034568 [GRCh37] Chr17:17p11.2 |
pathogenic |
NM_016239.4(MYO15A):c.3080C>T (p.Thr1027Ile) |
single nucleotide variant |
not provided [RCV001663611] |
Chr17:18121880 [GRCh38] Chr17:18025194 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.25A>G (p.Lys9Glu) |
single nucleotide variant |
not provided [RCV002284741] |
Chr17:18118825 [GRCh38] Chr17:18022139 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.8375T>C (p.Val2792Ala) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 3 [RCV001254926] |
Chr17:18155348 [GRCh38] Chr17:18058662 [GRCh37] Chr17:17p11.2 |
pathogenic |
NM_016239.4(MYO15A):c.10373del (p.Leu3458fs) |
deletion |
Inborn genetic diseases [RCV001266950] |
Chr17:18173803 [GRCh38] Chr17:18077117 [GRCh37] Chr17:17p11.2 |
pathogenic |
NM_016239.4(MYO15A):c.707A>G (p.Tyr236Cys) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 3 [RCV001265209] |
Chr17:18119507 [GRCh38] Chr17:18022821 [GRCh37] Chr17:17p11.2 |
likely pathogenic |
NM_016239.4(MYO15A):c.8897_8900dup (p.Ala2968fs) |
duplication |
Autosomal recessive nonsyndromic hearing loss 3 [RCV001265211] |
Chr17:18157827..18157828 [GRCh38] Chr17:18061141..18061142 [GRCh37] Chr17:17p11.2 |
pathogenic |
NM_016239.4(MYO15A):c.4571dup (p.Lys1525fs) |
duplication |
Autosomal recessive nonsyndromic hearing loss 3 [RCV001265210] |
Chr17:18135798..18135799 [GRCh38] Chr17:18039112..18039113 [GRCh37] Chr17:17p11.2 |
pathogenic |
NM_016239.4(MYO15A):c.7994dup (p.Pro2665_Glu2666insTer) |
duplication |
Deafness, autosomal recessive 3 [RCV001333914] |
Chr17:18153797..18153798 [GRCh38] Chr17:18057111..18057112 [GRCh37] Chr17:17p11.2 |
pathogenic |
NM_016239.4(MYO15A):c.823G>A (p.Gly275Ser) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 3 [RCV001333915]|not provided [RCV001859318] |
Chr17:18119623 [GRCh38] Chr17:18022937 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.10472T>A (p.Leu3491Ter) |
single nucleotide variant |
Deafness, autosomal recessive 3 [RCV001333909] |
Chr17:18173902 [GRCh38] Chr17:18077216 [GRCh37] Chr17:17p11.2 |
pathogenic |
NM_016239.4(MYO15A):c.10585del (p.Leu3529fs) |
deletion |
Autosomal recessive nonsyndromic hearing loss 3 [RCV001265212] |
Chr17:18178860 [GRCh38] Chr17:18082174 [GRCh37] Chr17:17p11.2 |
pathogenic |
GRCh37/hg19 17p11.2(chr17:16761814-20330062)x3 |
copy number gain |
not provided [RCV001259290] |
Chr17:16761814..20330062 [GRCh37] Chr17:17p11.2 |
pathogenic |
GRCh37/hg19 17p11.2(chr17:17151140-20187953) |
copy number loss |
Smith-Magenis syndrome [RCV002280652] |
Chr17:17151140..20187953 [GRCh37] Chr17:17p11.2 |
pathogenic |
NM_016239.4(MYO15A):c.1337A>T (p.Gln446Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV001267400] |
Chr17:18120137 [GRCh38] Chr17:18023451 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.7966+77G>C |
single nucleotide variant |
not provided [RCV001539166] |
Chr17:18152261 [GRCh38] Chr17:18055575 [GRCh37] Chr17:17p11.2 |
likely benign |
GRCh37/hg19 17p11.2(chr17:17145361-20137943) |
copy number loss |
Smith-Magenis syndrome [RCV001352632] |
Chr17:17145361..20137943 [GRCh37] Chr17:17p11.2 |
pathogenic |
GRCh37/hg19 17p11.2(chr17:16601603-20063369) |
copy number gain |
Potocki-Lupski syndrome [RCV001352635] |
Chr17:16601603..20063369 [GRCh37] Chr17:17p11.2 |
pathogenic |
NM_016239.4(MYO15A):c.1603del (p.Leu535fs) |
deletion |
not provided [RCV001560679] |
Chr17:18120402 [GRCh38] Chr17:18023716 [GRCh37] Chr17:17p11.2 |
pathogenic|likely pathogenic |
NM_016239.4(MYO15A):c.5777G>A (p.Arg1926His) |
single nucleotide variant |
Childhood onset hearing loss [RCV001328008]|not provided [RCV001863183] |
Chr17:18142206 [GRCh38] Chr17:18045520 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.2452C>A (p.Arg818Ser) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 3 [RCV001328942] |
Chr17:18121252 [GRCh38] Chr17:18024566 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.1277C>T (p.Ala426Val) |
single nucleotide variant |
not provided [RCV001288310] |
Chr17:18120077 [GRCh38] Chr17:18023391 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.9620G>T (p.Arg3207Leu) |
single nucleotide variant |
Hearing impairment [RCV001375260] |
Chr17:18163251 [GRCh38] Chr17:18066565 [GRCh37] Chr17:17p11.2 |
likely pathogenic |
NM_016239.4(MYO15A):c.3359G>A (p.Arg1120His) |
single nucleotide variant |
not provided [RCV001357171] |
Chr17:18122159 [GRCh38] Chr17:18025473 [GRCh37] Chr17:17p11.2 |
benign|uncertain significance |
NM_016239.4(MYO15A):c.4462G>A (p.Val1488Ile) |
single nucleotide variant |
not provided [RCV002557521]|not specified [RCV001449825] |
Chr17:18133366 [GRCh38] Chr17:18036680 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.7473+2T>G |
single nucleotide variant |
not provided [RCV002597608] |
Chr17:18150915 [GRCh38] Chr17:18054229 [GRCh37] Chr17:17p11.2 |
pathogenic|likely pathogenic |
NM_016239.4(MYO15A):c.5491G>A (p.Gly1831Arg) |
single nucleotide variant |
Hearing impairment [RCV001375263] |
Chr17:18141103 [GRCh38] Chr17:18044417 [GRCh37] Chr17:17p11.2 |
likely pathogenic|uncertain significance |
NM_016239.4(MYO15A):c.9515A>G (p.Gln3172Arg) |
single nucleotide variant |
Hearing impairment [RCV001375384]|not provided [RCV001865879] |
Chr17:18161445 [GRCh38] Chr17:18064759 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.6302T>C (p.Leu2101Pro) |
single nucleotide variant |
Childhood onset hearing loss [RCV001328012]|not provided [RCV001586129] |
Chr17:18145900 [GRCh38] Chr17:18049214 [GRCh37] Chr17:17p11.2 |
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
NM_016239.4(MYO15A):c.6258G>A (p.Val2086=) |
single nucleotide variant |
not provided [RCV002284821] |
Chr17:18144577 [GRCh38] Chr17:18047891 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.1238G>C (p.Trp413Ser) |
single nucleotide variant |
Hearing impairment [RCV001375143] |
Chr17:18120038 [GRCh38] Chr17:18023352 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.6911T>C (p.Ile2304Thr) |
single nucleotide variant |
not provided [RCV001357764] |
Chr17:18148907 [GRCh38] Chr17:18052221 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.4252G>A (p.Gly1418Arg) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 3 [RCV002224976]|Rare genetic deafness [RCV001449688]|not provided [RCV001572126] |
Chr17:18132498 [GRCh38] Chr17:18035812 [GRCh37] Chr17:17p11.2 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
NM_016239.4(MYO15A):c.4039A>T (p.Ile1347Phe) |
single nucleotide variant |
Hearing impairment [RCV001375285] |
Chr17:18131239 [GRCh38] Chr17:18034553 [GRCh37] Chr17:17p11.2 |
likely pathogenic |
NM_016239.4(MYO15A):c.2873del (p.Pro958fs) |
deletion |
Autosomal recessive nonsyndromic hearing loss 3 [RCV003333765]|Hearing impairment [RCV001375289] |
Chr17:18121669 [GRCh38] Chr17:18024983 [GRCh37] Chr17:17p11.2 |
likely pathogenic |
NM_016239.4(MYO15A):c.7762C>T (p.Arg2588Trp) |
single nucleotide variant |
not provided [RCV002284490]|not specified [RCV001449678] |
Chr17:18151502 [GRCh38] Chr17:18054816 [GRCh37] Chr17:17p11.2 |
likely benign|uncertain significance |
NM_016239.4(MYO15A):c.8281G>A (p.Val2761Met) |
single nucleotide variant |
Hearing impairment [RCV001375313]|Inborn genetic diseases [RCV002550215] |
Chr17:18155166 [GRCh38] Chr17:18058480 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.3585C>T (p.Val1195=) |
single nucleotide variant |
not specified [RCV001449849] |
Chr17:18122385 [GRCh38] Chr17:18025699 [GRCh37] Chr17:17p11.2 |
risk factor|likely benign |
NM_016239.4(MYO15A):c.266A>C (p.Gln89Pro) |
single nucleotide variant |
Hearing impairment [RCV001375222] |
Chr17:18119066 [GRCh38] Chr17:18022380 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.9583C>T (p.Pro3195Ser) |
single nucleotide variant |
Hearing impairment [RCV001375274] |
Chr17:18162650 [GRCh38] Chr17:18065964 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.8261C>T (p.Thr2754Met) |
single nucleotide variant |
Hearing impairment [RCV001375276] |
Chr17:18155146 [GRCh38] Chr17:18058460 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.7925C>T (p.Pro2642Leu) |
single nucleotide variant |
Alport syndrome [RCV001375387]|not provided [RCV002550218] |
Chr17:18152143 [GRCh38] Chr17:18055457 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.4216G>A (p.Glu1406Lys) |
single nucleotide variant |
Childhood onset hearing loss [RCV001328011]|not provided [RCV001539883] |
Chr17:18132462 [GRCh38] Chr17:18035776 [GRCh37] Chr17:17p11.2 |
likely pathogenic|uncertain significance |
NM_016239.4(MYO15A):c.4821C>A (p.Tyr1607Ter) |
single nucleotide variant |
not provided [RCV001382216] |
Chr17:18137625 [GRCh38] Chr17:18040939 [GRCh37] Chr17:17p11.2 |
pathogenic |
NM_016239.4(MYO15A):c.7267G>A (p.Gly2423Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV003355497]|not provided [RCV001487094] |
Chr17:18150483 [GRCh38] Chr17:18053797 [GRCh37] Chr17:17p11.2 |
likely benign |
NM_016239.4(MYO15A):c.7015del (p.Glu2339fs) |
deletion |
not provided [RCV001380389] |
Chr17:18149273 [GRCh38] Chr17:18052587 [GRCh37] Chr17:17p11.2 |
pathogenic |
NM_016239.4(MYO15A):c.8940dup (p.Ala2981fs) |
duplication |
not provided [RCV001385110] |
Chr17:18157872..18157873 [GRCh38] Chr17:18061186..18061187 [GRCh37] Chr17:17p11.2 |
pathogenic |
NM_016239.4(MYO15A):c.5768G>A (p.Arg1923His) |
single nucleotide variant |
not provided [RCV001481437] |
Chr17:18142197 [GRCh38] Chr17:18045511 [GRCh37] Chr17:17p11.2 |
likely benign |
NM_016239.4(MYO15A):c.7395+23G>C |
single nucleotide variant |
not provided [RCV001540014] |
Chr17:18150788 [GRCh38] Chr17:18054102 [GRCh37] Chr17:17p11.2 |
likely benign |
NM_016239.4(MYO15A):c.850G>A (p.Glu284Lys) |
single nucleotide variant |
not provided [RCV001397935] |
Chr17:18119650 [GRCh38] Chr17:18022964 [GRCh37] Chr17:17p11.2 |
likely benign|conflicting interpretations of pathogenicity |
NM_016239.4(MYO15A):c.3609+21C>G |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 3 [RCV001779318]|not provided [RCV001695124] |
Chr17:18122430 [GRCh38] Chr17:18025744 [GRCh37] Chr17:17p11.2 |
benign |
NM_016239.4(MYO15A):c.4780-208C>T |
single nucleotide variant |
not provided [RCV001654818] |
Chr17:18137376 [GRCh38] Chr17:18040690 [GRCh37] Chr17:17p11.2 |
benign |
NM_016239.4(MYO15A):c.3897C>T (p.Phe1299=) |
single nucleotide variant |
not provided [RCV001592679] |
Chr17:18126821 [GRCh38] Chr17:18030135 [GRCh37] Chr17:17p11.2 |
likely benign |
NM_016239.4(MYO15A):c.9304-81G>T |
single nucleotide variant |
not provided [RCV001592775] |
Chr17:18159854 [GRCh38] Chr17:18063168 [GRCh37] Chr17:17p11.2 |
likely benign |
NM_016239.4(MYO15A):c.10350+22C>G |
single nucleotide variant |
not provided [RCV001582266] |
Chr17:18172312 [GRCh38] Chr17:18075626 [GRCh37] Chr17:17p11.2 |
likely benign |
NM_016239.4(MYO15A):c.7787+27G>T |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 3 [RCV001779305]|not provided [RCV001671860] |
Chr17:18151554 [GRCh38] Chr17:18054868 [GRCh37] Chr17:17p11.2 |
benign |
NM_016239.4(MYO15A):c.5825+73G>A |
single nucleotide variant |
not provided [RCV001654614] |
Chr17:18142327 [GRCh38] Chr17:18045641 [GRCh37] Chr17:17p11.2 |
benign |
NM_016239.4(MYO15A):c.5532-74G>A |
single nucleotide variant |
not provided [RCV001671874] |
Chr17:18141579 [GRCh38] Chr17:18044893 [GRCh37] Chr17:17p11.2 |
benign |
NM_016239.4(MYO15A):c.9690+156C>T |
single nucleotide variant |
not provided [RCV001715785] |
Chr17:18163477 [GRCh38] Chr17:18066791 [GRCh37] Chr17:17p11.2 |
benign |
NM_016239.4(MYO15A):c.9386+110T>C |
single nucleotide variant |
not provided [RCV001686137] |
Chr17:18160127 [GRCh38] Chr17:18063441 [GRCh37] Chr17:17p11.2 |
benign |
NM_016239.4(MYO15A):c.4718C>T (p.Ala1573Val) |
single nucleotide variant |
not provided [RCV001424744] |
Chr17:18136625 [GRCh38] Chr17:18039939 [GRCh37] Chr17:17p11.2 |
likely benign |
NM_016239.4(MYO15A):c.7474-76C>G |
single nucleotide variant |
not provided [RCV001539102] |
Chr17:18151034 [GRCh38] Chr17:18054348 [GRCh37] Chr17:17p11.2 |
likely benign |
NM_016239.4(MYO15A):c.8548C>T (p.Arg2850Ter) |
single nucleotide variant |
not provided [RCV001727025] |
Chr17:18156283 [GRCh38] Chr17:18059597 [GRCh37] Chr17:17p11.2 |
pathogenic |
NM_016239.4(MYO15A):c.593C>T (p.Ala198Val) |
single nucleotide variant |
not provided [RCV001756417] |
Chr17:18119393 [GRCh38] Chr17:18022707 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.10217-28G>A |
single nucleotide variant |
not provided [RCV001732730] |
Chr17:18172129 [GRCh38] Chr17:18075443 [GRCh37] Chr17:17p11.2 |
likely benign |
NM_016239.4(MYO15A):c.8896G>A (p.Gly2966Ser) |
single nucleotide variant |
not specified [RCV002238646] |
Chr17:18157829 [GRCh38] Chr17:18061143 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.526T>C (p.Ser176Pro) |
single nucleotide variant |
Inborn genetic diseases [RCV003346681]|not provided [RCV001754952] |
Chr17:18119326 [GRCh38] Chr17:18022640 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.950C>T (p.Ala317Val) |
single nucleotide variant |
not provided [RCV002284850] |
Chr17:18119750 [GRCh38] Chr17:18023064 [GRCh37] Chr17:17p11.2 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_016239.4(MYO15A):c.902C>T (p.Pro301Leu) |
single nucleotide variant |
not provided [RCV003108938] |
Chr17:18119702 [GRCh38] Chr17:18023016 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.3316C>T (p.Arg1106Trp) |
single nucleotide variant |
not provided [RCV001756997] |
Chr17:18122116 [GRCh38] Chr17:18025430 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.836A>T (p.Tyr279Phe) |
single nucleotide variant |
not provided [RCV001755072] |
Chr17:18119636 [GRCh38] Chr17:18022950 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.2017G>A (p.Gly673Arg) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 3 [RCV001822949]|Inborn genetic diseases [RCV002568268]|not provided [RCV001732204] |
Chr17:18120817 [GRCh38] Chr17:18024131 [GRCh37] Chr17:17p11.2 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_016239.4(MYO15A):c.1990C>A (p.Pro664Thr) |
single nucleotide variant |
not provided [RCV001732581] |
Chr17:18120790 [GRCh38] Chr17:18024104 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.4606C>T (p.Arg1536Ter) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 3 [RCV001784694] |
Chr17:18136426 [GRCh38] Chr17:18039740 [GRCh37] Chr17:17p11.2 |
pathogenic |
NM_016239.4(MYO15A):c.855dup (p.Pro286fs) |
duplication |
Autosomal recessive nonsyndromic hearing loss 3 [RCV001784695] |
Chr17:18119654..18119655 [GRCh38] Chr17:18022968..18022969 [GRCh37] Chr17:17p11.2 |
pathogenic |
NM_016239.4(MYO15A):c.3928T>G (p.Cys1310Gly) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 3 [RCV002251162] |
Chr17:18126852 [GRCh38] Chr17:18030166 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.9703G>A (p.Val3235Met) |
single nucleotide variant |
not provided [RCV002254119] |
Chr17:18163754 [GRCh38] Chr17:18067068 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.9517G>A (p.Gly3173Arg) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 3 [RCV002251184] |
Chr17:18161447 [GRCh38] Chr17:18064761 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.5354T>A (p.Met1785Lys) |
single nucleotide variant |
not provided [RCV001758367] |
Chr17:18140659 [GRCh38] Chr17:18043973 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.9815G>A (p.Arg3272His) |
single nucleotide variant |
not provided [RCV001763785] |
Chr17:18166388 [GRCh38] Chr17:18069702 [GRCh37] Chr17:17p11.2 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_016239.4(MYO15A):c.6502C>T (p.Leu2168Phe) |
single nucleotide variant |
not provided [RCV001763894] |
Chr17:18146100 [GRCh38] Chr17:18049414 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.5597T>C (p.Leu1866Pro) |
single nucleotide variant |
not provided [RCV001770609] |
Chr17:18141718 [GRCh38] Chr17:18045032 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.1425C>T (p.Arg475=) |
single nucleotide variant |
not provided [RCV001770887] |
Chr17:18120225 [GRCh38] Chr17:18023539 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.10324del (p.Leu3442fs) |
deletion |
Autosomal recessive nonsyndromic hearing loss 3 [RCV001782478] |
Chr17:18172263 [GRCh38] Chr17:18075577 [GRCh37] Chr17:17p11.2 |
likely pathogenic |
NM_016239.4(MYO15A):c.5557C>G (p.His1853Asp) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 3 [RCV001771831] |
Chr17:18141678 [GRCh38] Chr17:18044992 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.5699A>G (p.His1900Arg) |
single nucleotide variant |
not provided [RCV001771234] |
Chr17:18142128 [GRCh38] Chr17:18045442 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.5929_5930inv (p.Cys1977His) |
inversion |
not provided [RCV001733322] |
Chr17:18143584..18143585 [GRCh38] Chr17:18046898..18046899 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.3952G>A (p.Gly1318Ser) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 3 [RCV002506792]|not provided [RCV001763632] |
Chr17:18127085 [GRCh38] Chr17:18030399 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.3340T>C (p.Phe1114Leu) |
single nucleotide variant |
not provided [RCV003237999] |
Chr17:18122140 [GRCh38] Chr17:18025454 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.5502G>A (p.Val1834=) |
single nucleotide variant |
not provided [RCV001786682] |
Chr17:18141114 [GRCh38] Chr17:18044428 [GRCh37] Chr17:17p11.2 |
likely benign |
NM_016239.4(MYO15A):c.4622C>T (p.Thr1541Met) |
single nucleotide variant |
not provided [RCV001765725] |
Chr17:18136442 [GRCh38] Chr17:18039756 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.4152C>G (p.Ile1384Met) |
single nucleotide variant |
not provided [RCV001767662] |
Chr17:18131477 [GRCh38] Chr17:18034791 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.530G>T (p.Gly177Val) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 3 [RCV002477991]|not provided [RCV001773218] |
Chr17:18119330 [GRCh38] Chr17:18022644 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.4016G>T (p.Arg1339Leu) |
single nucleotide variant |
not provided [RCV001764843] |
Chr17:18127149 [GRCh38] Chr17:18030463 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.9400C>T (p.Arg3134Ter) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 3 [RCV001780438] |
Chr17:18161330 [GRCh38] Chr17:18064644 [GRCh37] Chr17:17p11.2 |
pathogenic |
NM_016239.4(MYO15A):c.7499C>T (p.Pro2500Leu) |
single nucleotide variant |
not provided [RCV001774122] |
Chr17:18151135 [GRCh38] Chr17:18054449 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.8549G>C (p.Arg2850Pro) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 3 [RCV001810313]|not provided [RCV001752584] |
Chr17:18156284 [GRCh38] Chr17:18059598 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.560T>G (p.Leu187Arg) |
single nucleotide variant |
not provided [RCV001769426] |
Chr17:18119360 [GRCh38] Chr17:18022674 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.1849A>C (p.Met617Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV002540513]|not provided [RCV001769427] |
Chr17:18120649 [GRCh38] Chr17:18023963 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.1967A>G (p.His656Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV002538783]|not provided [RCV001768501] |
Chr17:18120767 [GRCh38] Chr17:18024081 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.6055C>A (p.Leu2019Met) |
single nucleotide variant |
not provided [RCV001765758] |
Chr17:18143878 [GRCh38] Chr17:18047192 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.395C>T (p.Thr132Met) |
single nucleotide variant |
Inborn genetic diseases [RCV002544013]|not provided [RCV001770886] |
Chr17:18119195 [GRCh38] Chr17:18022509 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.4526T>C (p.Ile1509Thr) |
single nucleotide variant |
not provided [RCV001774500] |
Chr17:18135754 [GRCh38] Chr17:18039068 [GRCh37] Chr17:17p11.2 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_016239.4(MYO15A):c.9698T>G (p.Leu3233Arg) |
single nucleotide variant |
not provided [RCV001766872] |
Chr17:18163749 [GRCh38] Chr17:18067063 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.3897C>A (p.Phe1299Leu) |
single nucleotide variant |
not provided [RCV001754174] |
Chr17:18126821 [GRCh38] Chr17:18030135 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.3869A>G (p.His1290Arg) |
single nucleotide variant |
not provided [RCV001771233] |
Chr17:18126793 [GRCh38] Chr17:18030107 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.3620T>C (p.Ile1207Thr) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 3 [RCV001733686] |
Chr17:18124493 [GRCh38] Chr17:18027807 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.8224+1G>A |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 3 [RCV001782479] |
Chr17:18154756 [GRCh38] Chr17:18058070 [GRCh37] Chr17:17p11.2 |
likely pathogenic |
NM_016239.4(MYO15A):c.7655-16C>T |
single nucleotide variant |
not provided [RCV001799884] |
Chr17:18151379 [GRCh38] Chr17:18054693 [GRCh37] Chr17:17p11.2 |
benign|likely benign |
NM_016239.4(MYO15A):c.5261G>A (p.Arg1754His) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 3 [RCV001803652] |
Chr17:18140566 [GRCh38] Chr17:18043880 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.7352T>C (p.Leu2451Ser) |
single nucleotide variant |
not provided [RCV001732901] |
Chr17:18150722 [GRCh38] Chr17:18054036 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.5001del (p.Gln1669fs) |
deletion |
Autosomal recessive nonsyndromic hearing loss 3 [RCV001784696] |
Chr17:18138238 [GRCh38] Chr17:18041552 [GRCh37] Chr17:17p11.2 |
pathogenic |
NM_016239.4(MYO15A):c.5141A>T (p.Lys1714Met) |
single nucleotide variant |
not provided [RCV001757896] |
Chr17:18139541 [GRCh38] Chr17:18042855 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.9116G>A (p.Arg3039Gln) |
single nucleotide variant |
not provided [RCV001797315] |
Chr17:18158957 [GRCh38] Chr17:18062271 [GRCh37] Chr17:17p11.2 |
uncertain significance |
GRCh37/hg19 17p11.2(chr17:16829153-20361747)x3 |
copy number gain |
Potocki-Lupski syndrome [RCV001801179] |
Chr17:16829153..20361747 [GRCh37] Chr17:17p11.2 |
pathogenic |
NM_016239.4(MYO15A):c.10263C>G (p.Ile3421Met) |
single nucleotide variant |
not provided [RCV001756661] |
Chr17:18172203 [GRCh38] Chr17:18075517 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.6106G>A (p.Glu2036Lys) |
single nucleotide variant |
not provided [RCV001757055] |
Chr17:18143929 [GRCh38] Chr17:18047243 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.6847G>A (p.Val2283Met) |
single nucleotide variant |
not provided [RCV001758294] |
Chr17:18148843 [GRCh38] Chr17:18052157 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.4142+1G>T |
single nucleotide variant |
Ear malformation [RCV001814366] |
Chr17:18131343 [GRCh38] Chr17:18034657 [GRCh37] Chr17:17p11.2 |
pathogenic |
NM_016239.4(MYO15A):c.9355A>T (p.Lys3119Ter) |
single nucleotide variant |
Ear malformation [RCV001814490] |
Chr17:18159986 [GRCh38] Chr17:18063300 [GRCh37] Chr17:17p11.2 |
pathogenic |
NM_016239.4(MYO15A):c.10080C>T (p.Ser3360=) |
single nucleotide variant |
not provided [RCV001806276] |
Chr17:18167721 [GRCh38] Chr17:18071035 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.9023C>T (p.Pro3008Leu) |
single nucleotide variant |
not provided [RCV001806606] |
Chr17:18158578 [GRCh38] Chr17:18061892 [GRCh37] Chr17:17p11.2 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_016239.4(MYO15A):c.6273+207_6273+208insA |
insertion |
not provided [RCV001810388] |
Chr17:18144799..18144800 [GRCh38] Chr17:18048113..18048114 [GRCh37] Chr17:17p11.2 |
benign |
NM_016239.4(MYO15A):c.9523G>A (p.Ala3175Thr) |
single nucleotide variant |
not provided [RCV001806644] |
Chr17:18162590 [GRCh38] Chr17:18065904 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.5810G>A (p.Arg1937His) |
single nucleotide variant |
Ear malformation [RCV001814405] |
Chr17:18142239 [GRCh38] Chr17:18045553 [GRCh37] Chr17:17p11.2 |
likely pathogenic |
NM_016239.4(MYO15A):c.3867-1G>A |
single nucleotide variant |
Ear malformation [RCV001814406] |
Chr17:18126790 [GRCh38] Chr17:18030104 [GRCh37] Chr17:17p11.2 |
likely pathogenic |
NM_016239.4(MYO15A):c.806C>T (p.Pro269Leu) |
single nucleotide variant |
not provided [RCV001806275] |
Chr17:18119606 [GRCh38] Chr17:18022920 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.8147A>G (p.Gln2716Arg) |
single nucleotide variant |
not provided [RCV001988433] |
Chr17:18154189 [GRCh38] Chr17:18057503 [GRCh37] Chr17:17p11.2 |
likely pathogenic |
NM_016239.4(MYO15A):c.9888_9898delinsTCGGGGGG (p.Leu3297_Gln3300delinsArgGlyGlu) |
indel |
Autosomal recessive nonsyndromic hearing loss 3 [RCV001822961] |
Chr17:18166461..18166471 [GRCh38] Chr17:18069775..18069785 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.10419_10423del (p.Ser3474fs) |
deletion |
Autosomal recessive nonsyndromic hearing loss 3 [RCV001823229] |
Chr17:18173849..18173853 [GRCh38] Chr17:18077163..18077167 [GRCh37] Chr17:17p11.2 |
pathogenic |
NM_016239.4(MYO15A):c.4195A>T (p.Ile1399Phe) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 3 [RCV001823275] |
Chr17:18131520 [GRCh38] Chr17:18034834 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.5193_5194insACAG (p.Val1732fs) |
insertion |
Autosomal recessive nonsyndromic hearing loss 3 [RCV001823286] |
Chr17:18139593..18139594 [GRCh38] Chr17:18042907..18042908 [GRCh37] Chr17:17p11.2 |
pathogenic |
NM_016239.4(MYO15A):c.10207_10208insCCACC (p.Gln3403fs) |
microsatellite |
not provided [RCV002041358] |
Chr17:18171760..18171761 [GRCh38] Chr17:18075074..18075075 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.9941del (p.Tyr3314fs) |
deletion |
Autosomal recessive nonsyndromic hearing loss 3 [RCV001823257] |
Chr17:18166514 [GRCh38] Chr17:18069828 [GRCh37] Chr17:17p11.2 |
pathogenic |
NM_016239.4(MYO15A):c.4482+2T>C |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 3 [RCV001823223] |
Chr17:18133388 [GRCh38] Chr17:18036702 [GRCh37] Chr17:17p11.2 |
likely pathogenic |
NM_016239.4(MYO15A):c.7654+1G>C |
single nucleotide variant |
not provided [RCV001837648] |
Chr17:18151291 [GRCh38] Chr17:18054605 [GRCh37] Chr17:17p11.2 |
pathogenic |
NM_016239.4(MYO15A):c.23A>T (p.Glu8Val) |
single nucleotide variant |
not provided [RCV001929755] |
Chr17:18118823 [GRCh38] Chr17:18022137 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.352_360del (p.Gly118_Leu120del) |
deletion |
not provided [RCV002004115] |
Chr17:18119152..18119160 [GRCh38] Chr17:18022466..18022474 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.3602G>A (p.Arg1201Gln) |
single nucleotide variant |
not provided [RCV001927145] |
Chr17:18122402 [GRCh38] Chr17:18025716 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.9989C>T (p.Pro3330Leu) |
single nucleotide variant |
not provided [RCV002024849] |
Chr17:18167630 [GRCh38] Chr17:18070944 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.4779+5G>A |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 3 [RCV002491958]|not provided [RCV001948233] |
Chr17:18136691 [GRCh38] Chr17:18040005 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.7998G>C (p.Glu2666Asp) |
single nucleotide variant |
not provided [RCV001950100] |
Chr17:18153806 [GRCh38] Chr17:18057120 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.104G>C (p.Arg35Pro) |
single nucleotide variant |
not provided [RCV001983828] |
Chr17:18118904 [GRCh38] Chr17:18022218 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.6581G>A (p.Arg2194Gln) |
single nucleotide variant |
not provided [RCV002042223] |
Chr17:18148100 [GRCh38] Chr17:18051414 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.112A>C (p.Met38Leu) |
single nucleotide variant |
not provided [RCV001915146] |
Chr17:18118912 [GRCh38] Chr17:18022226 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.4178T>C (p.Leu1393Pro) |
single nucleotide variant |
Inborn genetic diseases [RCV002562228]|not provided [RCV001950484] |
Chr17:18131503 [GRCh38] Chr17:18034817 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.8354C>G (p.Thr2785Ser) |
single nucleotide variant |
not provided [RCV001890974] |
Chr17:18155327 [GRCh38] Chr17:18058641 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.9823A>G (p.Ile3275Val) |
single nucleotide variant |
not provided [RCV001986111] |
Chr17:18166396 [GRCh38] Chr17:18069710 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.3092C>T (p.Thr1031Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV003375460]|not provided [RCV001964914] |
Chr17:18121892 [GRCh38] Chr17:18025206 [GRCh37] Chr17:17p11.2 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_016239.4(MYO15A):c.3435del (p.Lys1146fs) |
deletion |
Autosomal recessive nonsyndromic hearing loss 3 [RCV001822955] |
Chr17:18122232 [GRCh38] Chr17:18025546 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.4538C>T (p.Ala1513Val) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 3 [RCV001823233] |
Chr17:18135766 [GRCh38] Chr17:18039080 [GRCh37] Chr17:17p11.2 |
likely pathogenic |
NM_016239.4(MYO15A):c.1661del (p.Gly554fs) |
deletion |
Autosomal recessive nonsyndromic hearing loss 3 [RCV001823292] |
Chr17:18120458 [GRCh38] Chr17:18023772 [GRCh37] Chr17:17p11.2 |
pathogenic |
NM_016239.4(MYO15A):c.9530C>T (p.Ala3177Val) |
single nucleotide variant |
not provided [RCV002002932] |
Chr17:18162597 [GRCh38] Chr17:18065911 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.9190G>C (p.Asp3064His) |
single nucleotide variant |
not provided [RCV001847405] |
Chr17:18159308 [GRCh38] Chr17:18062622 [GRCh37] Chr17:17p11.2 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_016239.4(MYO15A):c.7245C>T (p.Arg2415=) |
single nucleotide variant |
not provided [RCV001966290] |
Chr17:18150461 [GRCh38] Chr17:18053775 [GRCh37] Chr17:17p11.2 |
likely benign|uncertain significance |
NM_016239.4(MYO15A):c.5835T>G (p.Tyr1945Ter) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 3 [RCV002051752] |
Chr17:18142765 [GRCh38] Chr17:18046079 [GRCh37] Chr17:17p11.2 |
pathogenic|likely pathogenic |
NM_016239.4(MYO15A):c.2863A>G (p.Arg955Gly) |
single nucleotide variant |
not provided [RCV002004268] |
Chr17:18121663 [GRCh38] Chr17:18024977 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.9690+1G>A |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 3 [RCV002051749] |
Chr17:18163322 [GRCh38] Chr17:18066636 [GRCh37] Chr17:17p11.2 |
pathogenic |
NM_016239.4(MYO15A):c.10556G>A (p.Arg3519Gln) |
single nucleotide variant |
not provided [RCV001871189] |
Chr17:18178833 [GRCh38] Chr17:18082147 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.4534G>A (p.Val1512Met) |
single nucleotide variant |
not provided [RCV002052318] |
Chr17:18135762 [GRCh38] Chr17:18039076 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.7871T>A (p.Leu2624Gln) |
single nucleotide variant |
not provided [RCV002007851] |
Chr17:18151929 [GRCh38] Chr17:18055243 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NC_000017.10:g.(?_16842861)_(18218092_?)dup |
duplication |
Birt-Hogg-Dube syndrome [RCV003120781]|not provided [RCV001949508] |
Chr17:16842861..18218092 [GRCh37] Chr17:17p11.2 |
pathogenic|uncertain significance|no classifications from unflagged records |
NM_016239.4(MYO15A):c.3358C>G (p.Arg1120Gly) |
single nucleotide variant |
not provided [RCV002004967] |
Chr17:18122158 [GRCh38] Chr17:18025472 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.659G>A (p.Arg220His) |
single nucleotide variant |
not provided [RCV002003973] |
Chr17:18119459 [GRCh38] Chr17:18022773 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.5683G>A (p.Glu1895Lys) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 3 [RCV002051730] |
Chr17:18142112 [GRCh38] Chr17:18045426 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.3239G>A (p.Arg1080His) |
single nucleotide variant |
not provided [RCV001914094] |
Chr17:18122039 [GRCh38] Chr17:18025353 [GRCh37] Chr17:17p11.2 |
likely benign|uncertain significance |
NM_016239.4(MYO15A):c.7711_7712dup (p.Gln2571fs) |
microsatellite |
Autosomal recessive nonsyndromic hearing loss 3 [RCV001822900] |
Chr17:18151448..18151449 [GRCh38] Chr17:18054762..18054763 [GRCh37] Chr17:17p11.2 |
likely pathogenic |
NM_016239.4(MYO15A):c.8681T>C (p.Ile2894Thr) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 3 [RCV001822950] |
Chr17:18157033 [GRCh38] Chr17:18060347 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.1168G>T (p.Glu390Ter) |
single nucleotide variant |
not provided [RCV001895123] |
Chr17:18119968 [GRCh38] Chr17:18023282 [GRCh37] Chr17:17p11.2 |
pathogenic |
NM_016239.4(MYO15A):c.9310G>A (p.Gly3104Arg) |
single nucleotide variant |
not provided [RCV001890297] |
Chr17:18159941 [GRCh38] Chr17:18063255 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.10183C>T (p.Leu3395Phe) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 3 [RCV001822951] |
Chr17:18171738 [GRCh38] Chr17:18075052 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.10538_10544del (p.Leu3513fs) |
deletion |
Autosomal recessive nonsyndromic hearing loss 3 [RCV001823226] |
Chr17:18178812..18178818 [GRCh38] Chr17:18082126..18082132 [GRCh37] Chr17:17p11.2 |
pathogenic |
NM_016239.4(MYO15A):c.4596+2_4596+3del |
deletion |
Autosomal recessive nonsyndromic hearing loss 3 [RCV001823228] |
Chr17:18135825..18135826 [GRCh38] Chr17:18039139..18039140 [GRCh37] Chr17:17p11.2 |
pathogenic |
NM_016239.4(MYO15A):c.3693-2A>G |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 3 [RCV001823232] |
Chr17:18125166 [GRCh38] Chr17:18028480 [GRCh37] Chr17:17p11.2 |
pathogenic |
NM_016239.4(MYO15A):c.9820T>C (p.Tyr3274His) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 3 [RCV001823242] |
Chr17:18166393 [GRCh38] Chr17:18069707 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.10350+6T>C |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 3 [RCV001823244] |
Chr17:18172296 [GRCh38] Chr17:18075610 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.5095T>G (p.Phe1699Val) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 3 [RCV001823248] |
Chr17:18138898 [GRCh38] Chr17:18042212 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.6045A>T (p.Ala2015=) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 3 [RCV001823267] |
Chr17:18143795 [GRCh38] Chr17:18047109 [GRCh37] Chr17:17p11.2 |
likely pathogenic |
NM_016239.4(MYO15A):c.5111A>G (p.Tyr1704Cys) |
single nucleotide variant |
not provided [RCV001894435] |
Chr17:18138914 [GRCh38] Chr17:18042228 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.6821G>T (p.Trp2274Leu) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 3 [RCV002503370]|not provided [RCV002044491] |
Chr17:18148817 [GRCh38] Chr17:18052131 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.10360_10362del (p.Val3454del) |
deletion |
Autosomal recessive nonsyndromic hearing loss 3 [RCV001822902] |
Chr17:18173788..18173790 [GRCh38] Chr17:18077102..18077104 [GRCh37] Chr17:17p11.2 |
likely pathogenic |
NM_016239.4(MYO15A):c.4190C>A (p.Ser1397Tyr) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 3 [RCV001822960] |
Chr17:18131515 [GRCh38] Chr17:18034829 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.6356C>T (p.Ala2119Val) |
single nucleotide variant |
Inborn genetic diseases [RCV002542727]|not provided [RCV001823387] |
Chr17:18145954 [GRCh38] Chr17:18049268 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.2834G>A (p.Gly945Glu) |
single nucleotide variant |
not provided [RCV001823397] |
Chr17:18121634 [GRCh38] Chr17:18024948 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.9029A>T (p.Tyr3010Phe) |
single nucleotide variant |
not provided [RCV001894348] |
Chr17:18158584 [GRCh38] Chr17:18061898 [GRCh37] Chr17:17p11.2 |
likely benign|uncertain significance |
NM_016239.4(MYO15A):c.2456C>G (p.Ser819Trp) |
single nucleotide variant |
not provided [RCV001912412] |
Chr17:18121256 [GRCh38] Chr17:18024570 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.350_363del (p.Tyr117fs) |
deletion |
not provided [RCV001892002] |
Chr17:18119150..18119163 [GRCh38] Chr17:18022464..18022477 [GRCh37] Chr17:17p11.2 |
pathogenic |
NM_016239.4(MYO15A):c.4228C>T (p.His1410Tyr) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 3 [RCV002052242] |
Chr17:18132474 [GRCh38] Chr17:18035788 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.7606C>T (p.Pro2536Ser) |
single nucleotide variant |
not provided [RCV001908417] |
Chr17:18151242 [GRCh38] Chr17:18054556 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.10193A>T (p.His3398Leu) |
single nucleotide variant |
not provided [RCV002043222] |
Chr17:18171748 [GRCh38] Chr17:18075062 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NC_000017.10:g.(?_16842861)_(19578885_?)del |
deletion |
Immunodeficiency, common variable, 2 [RCV002049406]|Joubert syndrome [RCV002047402] |
Chr17:16842861..19578885 [GRCh37] Chr17:17p11.2 |
pathogenic |
NM_016239.4(MYO15A):c.5194G>C (p.Val1732Leu) |
single nucleotide variant |
not provided [RCV001843618] |
Chr17:18139594 [GRCh38] Chr17:18042908 [GRCh37] Chr17:17p11.2 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_016239.4(MYO15A):c.5977C>T (p.Arg1993Trp) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 3 [RCV001822901] |
Chr17:18143727 [GRCh38] Chr17:18047041 [GRCh37] Chr17:17p11.2 |
pathogenic |
NM_016239.4(MYO15A):c.4461C>A (p.Asn1487Lys) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 3 [RCV001823214] |
Chr17:18133365 [GRCh38] Chr17:18036679 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.3904del (p.Met1302fs) |
deletion |
Autosomal recessive nonsyndromic hearing loss 3 [RCV001823246] |
Chr17:18126825 [GRCh38] Chr17:18030139 [GRCh37] Chr17:17p11.2 |
likely pathogenic |
NM_016239.4(MYO15A):c.8474T>C (p.Leu2825Pro) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 3 [RCV001823247] |
Chr17:18156209 [GRCh38] Chr17:18059523 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.7654+1G>A |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 3 [RCV001823268] |
Chr17:18151291 [GRCh38] Chr17:18054605 [GRCh37] Chr17:17p11.2 |
pathogenic |
NM_016239.4(MYO15A):c.6551_6552del (p.Cys2184fs) |
microsatellite |
Autosomal recessive nonsyndromic hearing loss 3 [RCV001823215] |
Chr17:18148065..18148066 [GRCh38] Chr17:18051379..18051380 [GRCh37] Chr17:17p11.2 |
likely pathogenic |
NM_016239.4(MYO15A):c.6898A>T (p.Lys2300Ter) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 3 [RCV001823237] |
Chr17:18148894 [GRCh38] Chr17:18052208 [GRCh37] Chr17:17p11.2 |
pathogenic |
NM_016239.4(MYO15A):c.212del (p.Lys71fs) |
deletion |
Autosomal recessive nonsyndromic hearing loss 3 [RCV001823256] |
Chr17:18119011 [GRCh38] Chr17:18022325 [GRCh37] Chr17:17p11.2 |
pathogenic |
NM_016239.4(MYO15A):c.2266_2272dup (p.Pro758fs) |
duplication |
Autosomal recessive nonsyndromic hearing loss 3 [RCV001823264] |
Chr17:18121064..18121065 [GRCh38] Chr17:18024378..18024379 [GRCh37] Chr17:17p11.2 |
pathogenic |
NM_016239.4(MYO15A):c.9482A>C (p.Gln3161Pro) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 3 [RCV001823274] |
Chr17:18161412 [GRCh38] Chr17:18064726 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.3848C>T (p.Ala1283Val) |
single nucleotide variant |
not provided [RCV001887384] |
Chr17:18126438 [GRCh38] Chr17:18029752 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.5804G>A (p.Arg1935Gln) |
single nucleotide variant |
not provided [RCV001990964] |
Chr17:18142233 [GRCh38] Chr17:18045547 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.7967-2A>T |
single nucleotide variant |
not provided [RCV002037626] |
Chr17:18153773 [GRCh38] Chr17:18057087 [GRCh37] Chr17:17p11.2 |
pathogenic |
NM_016239.4(MYO15A):c.2557C>A (p.Leu853Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV003355684]|not provided [RCV001939316] |
Chr17:18121357 [GRCh38] Chr17:18024671 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.2178C>G (p.Ala726=) |
single nucleotide variant |
not provided [RCV002014799] |
Chr17:18120978 [GRCh38] Chr17:18024292 [GRCh37] Chr17:17p11.2 |
likely benign|uncertain significance |
NM_016239.4(MYO15A):c.8113A>C (p.Ser2705Arg) |
single nucleotide variant |
not provided [RCV001981205] |
Chr17:18154155 [GRCh38] Chr17:18057469 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.2987C>G (p.Pro996Arg) |
single nucleotide variant |
not provided [RCV001887848] |
Chr17:18121787 [GRCh38] Chr17:18025101 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.175T>A (p.Phe59Ile) |
single nucleotide variant |
not provided [RCV001994437] |
Chr17:18118975 [GRCh38] Chr17:18022289 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.3007A>C (p.Lys1003Gln) |
single nucleotide variant |
not provided [RCV002038314] |
Chr17:18121807 [GRCh38] Chr17:18025121 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.343dup (p.Arg115fs) |
duplication |
not provided [RCV001939510] |
Chr17:18119141..18119142 [GRCh38] Chr17:18022455..18022456 [GRCh37] Chr17:17p11.2 |
pathogenic |
NM_016239.4(MYO15A):c.5473G>A (p.Val1825Met) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 3 [RCV002479654]|not provided [RCV002000715] |
Chr17:18141085 [GRCh38] Chr17:18044399 [GRCh37] Chr17:17p11.2 |
likely benign|uncertain significance |
NM_016239.4(MYO15A):c.5260C>T (p.Arg1754Cys) |
single nucleotide variant |
not provided [RCV001994917] |
Chr17:18140565 [GRCh38] Chr17:18043879 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.10575C>G (p.Ser3525Arg) |
single nucleotide variant |
not provided [RCV001956955] |
Chr17:18178852 [GRCh38] Chr17:18082166 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.8080C>A (p.Arg2694Ser) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 3 [RCV003155451]|not provided [RCV001977995] |
Chr17:18153888 [GRCh38] Chr17:18057202 [GRCh37] Chr17:17p11.2 |
likely pathogenic|uncertain significance |
NM_016239.4(MYO15A):c.6113G>A (p.Arg2038His) |
single nucleotide variant |
not provided [RCV001932733] |
Chr17:18143936 [GRCh38] Chr17:18047250 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.3308G>C (p.Gly1103Ala) |
single nucleotide variant |
not provided [RCV001930239] |
Chr17:18122108 [GRCh38] Chr17:18025422 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.1024T>C (p.Tyr342His) |
single nucleotide variant |
not provided [RCV001930430] |
Chr17:18119824 [GRCh38] Chr17:18023138 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.1423C>T (p.Arg475Cys) |
single nucleotide variant |
not provided [RCV001879634] |
Chr17:18120223 [GRCh38] Chr17:18023537 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.4232TCT[1] (p.Phe1412del) |
microsatellite |
not provided [RCV001917442] |
Chr17:18132478..18132480 [GRCh38] Chr17:18035792..18035794 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.5830C>T (p.Arg1944Cys) |
single nucleotide variant |
not provided [RCV001932033] |
Chr17:18142760 [GRCh38] Chr17:18046074 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.2509G>A (p.Gly837Ser) |
single nucleotide variant |
not provided [RCV001882068] |
Chr17:18121309 [GRCh38] Chr17:18024623 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.5730dup (p.Arg1911fs) |
duplication |
not provided [RCV001922275] |
Chr17:18142158..18142159 [GRCh38] Chr17:18045472..18045473 [GRCh37] Chr17:17p11.2 |
pathogenic |
NM_016239.4(MYO15A):c.9163C>A (p.Leu3055Ile) |
single nucleotide variant |
not provided [RCV001960825] |
Chr17:18159281 [GRCh38] Chr17:18062595 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.4723G>A (p.Val1575Met) |
single nucleotide variant |
not provided [RCV001940754] |
Chr17:18136630 [GRCh38] Chr17:18039944 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.6765-2A>G |
single nucleotide variant |
not provided [RCV001995551] |
Chr17:18148759 [GRCh38] Chr17:18052073 [GRCh37] Chr17:17p11.2 |
likely pathogenic |
NM_016239.4(MYO15A):c.8363del (p.Gln2788fs) |
deletion |
not provided [RCV001939610] |
Chr17:18155336 [GRCh38] Chr17:18058650 [GRCh37] Chr17:17p11.2 |
pathogenic |
NM_016239.4(MYO15A):c.1114T>C (p.Tyr372His) |
single nucleotide variant |
not provided [RCV001933770] |
Chr17:18119914 [GRCh38] Chr17:18023228 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.2374T>A (p.Leu792Met) |
single nucleotide variant |
not provided [RCV001916860] |
Chr17:18121174 [GRCh38] Chr17:18024488 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.2368_2378del (p.Ser790fs) |
deletion |
not provided [RCV001904732] |
Chr17:18121166..18121176 [GRCh38] Chr17:18024480..18024490 [GRCh37] Chr17:17p11.2 |
pathogenic |
NM_016239.4(MYO15A):c.9542A>G (p.Asn3181Ser) |
single nucleotide variant |
not provided [RCV002014733] |
Chr17:18162609 [GRCh38] Chr17:18065923 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.3127_3135del (p.Asp1043_Thr1045del) |
deletion |
not provided [RCV002013486] |
Chr17:18121927..18121935 [GRCh38] Chr17:18025241..18025249 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.9115C>T (p.Arg3039Trp) |
single nucleotide variant |
Inborn genetic diseases [RCV002625393]|not provided [RCV002019201] |
Chr17:18158956 [GRCh38] Chr17:18062270 [GRCh37] Chr17:17p11.2 |
likely benign|uncertain significance |
NM_016239.4(MYO15A):c.3551C>A (p.Ala1184Asp) |
single nucleotide variant |
not provided [RCV002029318] |
Chr17:18122351 [GRCh38] Chr17:18025665 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.4597-2A>G |
single nucleotide variant |
not provided [RCV001996861] |
Chr17:18136415 [GRCh38] Chr17:18039729 [GRCh37] Chr17:17p11.2 |
pathogenic |
NM_016239.4(MYO15A):c.9109G>T (p.Glu3037Ter) |
single nucleotide variant |
not provided [RCV001938084] |
Chr17:18158950 [GRCh38] Chr17:18062264 [GRCh37] Chr17:17p11.2 |
pathogenic |
NM_016239.4(MYO15A):c.5065T>C (p.Tyr1689His) |
single nucleotide variant |
not provided [RCV001926075] |
Chr17:18138868 [GRCh38] Chr17:18042182 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.4038+3A>G |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 3 [RCV003134303]|not provided [RCV001960764] |
Chr17:18130813 [GRCh38] Chr17:18034127 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.10253T>C (p.Phe3418Ser) |
single nucleotide variant |
not provided [RCV001996800] |
Chr17:18172193 [GRCh38] Chr17:18075507 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.1374C>G (p.Phe458Leu) |
single nucleotide variant |
not provided [RCV001975672] |
Chr17:18120174 [GRCh38] Chr17:18023488 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.6995C>A (p.Ser2332Tyr) |
single nucleotide variant |
not provided [RCV002009753] |
Chr17:18149254 [GRCh38] Chr17:18052568 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.9469dup (p.Thr3157fs) |
duplication |
not provided [RCV001915804] |
Chr17:18161398..18161399 [GRCh38] Chr17:18064712..18064713 [GRCh37] Chr17:17p11.2 |
pathogenic |
NM_016239.4(MYO15A):c.6291C>T (p.Gly2097=) |
single nucleotide variant |
not provided [RCV001979046] |
Chr17:18145889 [GRCh38] Chr17:18049203 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.2112G>C (p.Trp704Cys) |
single nucleotide variant |
Inborn genetic diseases [RCV003264323]|not provided [RCV001958401] |
Chr17:18120912 [GRCh38] Chr17:18024226 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.3836A>G (p.Tyr1279Cys) |
single nucleotide variant |
not provided [RCV001882954] |
Chr17:18126426 [GRCh38] Chr17:18029740 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.201_202del (p.Gln68fs) |
deletion |
Autosomal recessive nonsyndromic hearing loss 3 [RCV002224982] |
Chr17:18118998..18118999 [GRCh38] Chr17:18022312..18022313 [GRCh37] Chr17:17p11.2 |
pathogenic |
NM_016239.4(MYO15A):c.3971C>A (p.Ala1324Asp) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 3 [RCV002224991] |
Chr17:18127104 [GRCh38] Chr17:18030418 [GRCh37] Chr17:17p11.2 |
uncertain significance |
GRCh37/hg19 17p11.2(chr17:16664739-20217378)x1 |
copy number loss |
not provided [RCV002211424] |
Chr17:16664739..20217378 [GRCh37] Chr17:17p11.2 |
pathogenic |
NM_016239.4(MYO15A):c.5134-1G>A |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 3 [RCV002225001] |
Chr17:18139533 [GRCh38] Chr17:18042847 [GRCh37] Chr17:17p11.2 |
pathogenic |
NM_016239.4(MYO15A):c.596C>G (p.Ser199Ter) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 3 [RCV002225009] |
Chr17:18119396 [GRCh38] Chr17:18022710 [GRCh37] Chr17:17p11.2 |
pathogenic |
NM_016239.4(MYO15A):c.6397A>G (p.Asn2133Asp) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 3 [RCV002225011] |
Chr17:18145995 [GRCh38] Chr17:18049309 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.6611G>A (p.Arg2204His) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 3 [RCV002225014]|not provided [RCV003227038] |
Chr17:18148130 [GRCh38] Chr17:18051444 [GRCh37] Chr17:17p11.2 |
pathogenic|likely pathogenic |
NM_016239.4(MYO15A):c.10294_10308del (p.Pro3432_Ala3436del) |
deletion |
Autosomal recessive nonsyndromic hearing loss 3 [RCV002225016] |
Chr17:18172231..18172245 [GRCh38] Chr17:18075545..18075559 [GRCh37] Chr17:17p11.2 |
likely pathogenic |
NM_016239.4(MYO15A):c.8130dup (p.Asp2711Ter) |
duplication |
Autosomal recessive nonsyndromic hearing loss 3 [RCV002225026] |
Chr17:18154170..18154171 [GRCh38] Chr17:18057484..18057485 [GRCh37] Chr17:17p11.2 |
pathogenic |
NM_016239.4(MYO15A):c.8828dup (p.Ser2945fs) |
duplication |
Autosomal recessive nonsyndromic hearing loss 3 [RCV002225039] |
Chr17:18157759..18157760 [GRCh38] Chr17:18061073..18061074 [GRCh37] Chr17:17p11.2 |
pathogenic |
NM_016239.4(MYO15A):c.9358C>T (p.Gln3120Ter) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 3 [RCV002225045] |
Chr17:18159989 [GRCh38] Chr17:18063303 [GRCh37] Chr17:17p11.2 |
pathogenic |
NM_016239.4(MYO15A):c.9787+1G>A |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 3 [RCV002225049] |
Chr17:18163839 [GRCh38] Chr17:18067153 [GRCh37] Chr17:17p11.2 |
pathogenic |
NM_016239.4(MYO15A):c.7327+11C>T |
single nucleotide variant |
not provided [RCV002205786] |
Chr17:18150554 [GRCh38] Chr17:18053868 [GRCh37] Chr17:17p11.2 |
likely benign |
NM_016239.4(MYO15A):c.5650-16T>C |
single nucleotide variant |
not provided [RCV002074521] |
Chr17:18142063 [GRCh38] Chr17:18045377 [GRCh37] Chr17:17p11.2 |
likely benign |
NM_016239.4(MYO15A):c.5008-16C>G |
single nucleotide variant |
not provided [RCV002209609] |
Chr17:18138795 [GRCh38] Chr17:18042109 [GRCh37] Chr17:17p11.2 |
benign |
NM_016239.4(MYO15A):c.4033-10G>T |
single nucleotide variant |
not provided [RCV002165672] |
Chr17:18130795 [GRCh38] Chr17:18034109 [GRCh37] Chr17:17p11.2 |
likely benign |
NM_016239.4(MYO15A):c.9942_9943delinsTGTGTG (p.Asn3315delinsValTer) |
indel |
Autosomal recessive nonsyndromic hearing loss 3 [RCV002224979] |
Chr17:18166515..18166516 [GRCh38] Chr17:18069829..18069830 [GRCh37] Chr17:17p11.2 |
pathogenic |
NM_016239.4(MYO15A):c.1651G>A (p.Ala551Thr) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 3 [RCV002224981] |
Chr17:18120451 [GRCh38] Chr17:18023765 [GRCh37] Chr17:17p11.2 |
likely pathogenic |
NM_016239.4(MYO15A):c.2958del (p.Arg987fs) |
deletion |
Autosomal recessive nonsyndromic hearing loss 3 [RCV002224984] |
Chr17:18121757 [GRCh38] Chr17:18025071 [GRCh37] Chr17:17p11.2 |
pathogenic |
NM_016239.4(MYO15A):c.5036G>A (p.Cys1679Tyr) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 3 [RCV002225000] |
Chr17:18138839 [GRCh38] Chr17:18042153 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.10350+2T>G |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 3 [RCV002225025] |
Chr17:18172292 [GRCh38] Chr17:18075606 [GRCh37] Chr17:17p11.2 |
pathogenic |
NM_016239.4(MYO15A):c.8458A>C (p.Ser2820Arg) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 3 [RCV002225033] |
Chr17:18155431 [GRCh38] Chr17:18058745 [GRCh37] Chr17:17p11.2 |
likely pathogenic |
NM_016239.4(MYO15A):c.8944C>T (p.Gln2982Ter) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 3 [RCV002225041] |
Chr17:18157877 [GRCh38] Chr17:18061191 [GRCh37] Chr17:17p11.2 |
pathogenic|likely pathogenic |
NM_016239.4(MYO15A):c.9868A>G (p.Met3290Val) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 3 [RCV002225050] |
Chr17:18166441 [GRCh38] Chr17:18069755 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.3123del (p.Lys1042fs) |
deletion |
Autosomal recessive nonsyndromic hearing loss 3 [RCV002224985] |
Chr17:18121918 [GRCh38] Chr17:18025232 [GRCh37] Chr17:17p11.2 |
pathogenic |
NM_016239.4(MYO15A):c.3700C>T (p.Gln1234Ter) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 3 [RCV002224988] |
Chr17:18125175 [GRCh38] Chr17:18028489 [GRCh37] Chr17:17p11.2 |
pathogenic |
NM_016239.4(MYO15A):c.3829C>T (p.Gln1277Ter) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 3 [RCV002224989] |
Chr17:18126419 [GRCh38] Chr17:18029733 [GRCh37] Chr17:17p11.2 |
pathogenic |
NM_016239.4(MYO15A):c.5809C>G (p.Arg1937Gly) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 3 [RCV002225007] |
Chr17:18142238 [GRCh38] Chr17:18045552 [GRCh37] Chr17:17p11.2 |
pathogenic |
NM_016239.4(MYO15A):c.1101del (p.Tyr368fs) |
deletion |
Autosomal recessive nonsyndromic hearing loss 3 [RCV002225044] |
Chr17:18119899 [GRCh38] Chr17:18023213 [GRCh37] Chr17:17p11.2 |
likely pathogenic |
NM_016239.4(MYO15A):c.9223T>C (p.Phe3075Leu) |
single nucleotide variant |
not provided [RCV002211390] |
Chr17:18159341 [GRCh38] Chr17:18062655 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.4038+8GT[20] |
microsatellite |
not provided [RCV002124840] |
Chr17:18130818..18130831 [GRCh38] Chr17:18034132..18034145 [GRCh37] Chr17:17p11.2 |
benign |
NM_016239.4(MYO15A):c.4597-17G>C |
single nucleotide variant |
not provided [RCV002091455] |
Chr17:18136400 [GRCh38] Chr17:18039714 [GRCh37] Chr17:17p11.2 |
likely benign |
NM_016239.4(MYO15A):c.10491+16A>G |
single nucleotide variant |
not provided [RCV002164864] |
Chr17:18173937 [GRCh38] Chr17:18077251 [GRCh37] Chr17:17p11.2 |
likely benign |
NM_016239.4(MYO15A):c.8795G>A (p.Arg2932Lys) |
single nucleotide variant |
not provided [RCV002087153] |
Chr17:18157728 [GRCh38] Chr17:18061042 [GRCh37] Chr17:17p11.2 |
likely benign |
NM_016239.4(MYO15A):c.4784T>C (p.Leu1595Pro) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 3 [RCV002224998] |
Chr17:18137588 [GRCh38] Chr17:18040902 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.5504G>T (p.Arg1835Leu) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 3 [RCV002225004] |
Chr17:18141116 [GRCh38] Chr17:18044430 [GRCh37] Chr17:17p11.2 |
likely pathogenic |
NM_016239.4(MYO15A):c.5722_5725del (p.Thr1908fs) |
deletion |
Autosomal recessive nonsyndromic hearing loss 3 [RCV002225006] |
Chr17:18142148..18142151 [GRCh38] Chr17:18045462..18045465 [GRCh37] Chr17:17p11.2 |
pathogenic |
NM_016239.4(MYO15A):c.6338T>A (p.Ile2113Asn) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 3 [RCV002225010] |
Chr17:18145936 [GRCh38] Chr17:18049250 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.6510-1G>T |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 3 [RCV002225013] |
Chr17:18148028 [GRCh38] Chr17:18051342 [GRCh37] Chr17:17p11.2 |
likely pathogenic |
NM_016239.4(MYO15A):c.8324G>A (p.Arg2775His) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 3 [RCV002225030] |
Chr17:18155209 [GRCh38] Chr17:18058523 [GRCh37] Chr17:17p11.2 |
likely pathogenic |
NM_016239.4(MYO15A):c.8828T>C (p.Phe2943Ser) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 3 [RCV002225040] |
Chr17:18157761 [GRCh38] Chr17:18061075 [GRCh37] Chr17:17p11.2 |
likely pathogenic |
NM_016239.4(MYO15A):c.900del (p.Pro301fs) |
deletion |
Autosomal recessive nonsyndromic hearing loss 3 [RCV002225043] |
Chr17:18119700 [GRCh38] Chr17:18023014 [GRCh37] Chr17:17p11.2 |
pathogenic |
NM_016239.4(MYO15A):c.9534C>A (p.Cys3178Ter) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 3 [RCV002225048] |
Chr17:18162601 [GRCh38] Chr17:18065915 [GRCh37] Chr17:17p11.2 |
pathogenic |
NM_016239.4(MYO15A):c.3866+9C>T |
single nucleotide variant |
not provided [RCV002206958] |
Chr17:18126465 [GRCh38] Chr17:18029779 [GRCh37] Chr17:17p11.2 |
likely benign |
NM_016239.4(MYO15A):c.10129dup (p.Ala3377fs) |
duplication |
Autosomal recessive nonsyndromic hearing loss 3 [RCV002224978] |
Chr17:18171682..18171683 [GRCh38] Chr17:18074996..18074997 [GRCh37] Chr17:17p11.2 |
likely pathogenic |
NM_016239.4(MYO15A):c.10177C>T (p.Gln3393Ter) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 3 [RCV002224987] |
Chr17:18171732 [GRCh38] Chr17:18075046 [GRCh37] Chr17:17p11.2 |
pathogenic |
NM_016239.4(MYO15A):c.4037A>G (p.Lys1346Arg) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 3 [RCV002224992] |
Chr17:18130809 [GRCh38] Chr17:18034123 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.4322G>T (p.Gly1441Val) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 3 [RCV002224993] |
Chr17:18133226 [GRCh38] Chr17:18036540 [GRCh37] Chr17:17p11.2 |
pathogenic |
NM_016239.4(MYO15A):c.5360G>A (p.Arg1787Lys) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 3 [RCV002225002] |
Chr17:18140665 [GRCh38] Chr17:18043979 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.5362T>G (p.Cys1788Gly) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 3 [RCV002225003] |
Chr17:18140788 [GRCh38] Chr17:18044102 [GRCh37] Chr17:17p11.2 |
likely pathogenic |
NM_016239.4(MYO15A):c.5507T>C (p.Leu1836Pro) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 3 [RCV002225005] |
Chr17:18141119 [GRCh38] Chr17:18044433 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.10252TTC[2] (p.Phe3420del) |
microsatellite |
Autosomal recessive nonsyndromic hearing loss 3 [RCV002225008] |
Chr17:18172191..18172193 [GRCh38] Chr17:18075505..18075507 [GRCh37] Chr17:17p11.2 |
pathogenic |
NM_016239.4(MYO15A):c.735C>G (p.Tyr245Ter) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 3 [RCV002225021] |
Chr17:18119535 [GRCh38] Chr17:18022849 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.7523del (p.Pro2508fs) |
deletion |
Autosomal recessive nonsyndromic hearing loss 3 [RCV002225022] |
Chr17:18151155 [GRCh38] Chr17:18054469 [GRCh37] Chr17:17p11.2 |
pathogenic |
NM_016239.4(MYO15A):c.8285_8308del (p.Val2762_Trp2769del) |
deletion |
Autosomal recessive nonsyndromic hearing loss 3 [RCV002225029] |
Chr17:18155168..18155191 [GRCh38] Chr17:18058482..18058505 [GRCh37] Chr17:17p11.2 |
likely pathogenic |
NM_016239.4(MYO15A):c.8583del (p.Phe2861fs) |
deletion |
Autosomal recessive nonsyndromic hearing loss 3 [RCV002225035] |
Chr17:18156318 [GRCh38] Chr17:18059632 [GRCh37] Chr17:17p11.2 |
pathogenic |
NM_016239.4(MYO15A):c.8976dup (p.Val2993fs) |
duplication |
Autosomal recessive nonsyndromic hearing loss 3 [RCV002225042] |
Chr17:18158530..18158531 [GRCh38] Chr17:18061844..18061845 [GRCh37] Chr17:17p11.2 |
pathogenic |
NM_016239.4(MYO15A):c.9532T>C (p.Cys3178Arg) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 3 [RCV002225047] |
Chr17:18162599 [GRCh38] Chr17:18065913 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.4430G>A (p.Arg1477His) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 3 [RCV002224994]|Inborn genetic diseases [RCV002539841] |
Chr17:18133334 [GRCh38] Chr17:18036648 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.4676T>C (p.Leu1559Ser) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 3 [RCV002224997] |
Chr17:18136583 [GRCh38] Chr17:18039897 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.4656-6dup |
duplication |
not provided [RCV002186204] |
Chr17:18136556..18136557 [GRCh38] Chr17:18039870..18039871 [GRCh37] Chr17:17p11.2 |
likely benign |
NM_016239.4(MYO15A):c.6442T>A (p.Trp2148Arg) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 3 [RCV002225012] |
Chr17:18146040 [GRCh38] Chr17:18049354 [GRCh37] Chr17:17p11.2 |
likely pathogenic |
NM_016239.4(MYO15A):c.6841G>A (p.Asp2281Asn) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 3 [RCV002225019]|not provided [RCV002300572] |
Chr17:18148837 [GRCh38] Chr17:18052151 [GRCh37] Chr17:17p11.2 |
likely pathogenic|uncertain significance |
NM_016239.4(MYO15A):c.8152del (p.Leu2718fs) |
deletion |
Autosomal recessive nonsyndromic hearing loss 3 [RCV002225027] |
Chr17:18154682 [GRCh38] Chr17:18057996 [GRCh37] Chr17:17p11.2 |
pathogenic |
NM_016239.4(MYO15A):c.8713+3_8713+6del |
deletion |
Autosomal recessive nonsyndromic hearing loss 3 [RCV002225036] |
Chr17:18157066..18157069 [GRCh38] Chr17:18060380..18060383 [GRCh37] Chr17:17p11.2 |
pathogenic |
NM_016239.4(MYO15A):c.8746GTG[1] (p.Val2917del) |
microsatellite |
Autosomal recessive nonsyndromic hearing loss 3 [RCV002225037] |
Chr17:18157187..18157189 [GRCh38] Chr17:18060501..18060503 [GRCh37] Chr17:17p11.2 |
pathogenic |
NM_016239.4(MYO15A):c.6692-8C>T |
single nucleotide variant |
not provided [RCV002124409] |
Chr17:18148488 [GRCh38] Chr17:18051802 [GRCh37] Chr17:17p11.2 |
likely benign |
NM_016239.4(MYO15A):c.4207-18del |
deletion |
not provided [RCV002170976] |
Chr17:18132433 [GRCh38] Chr17:18035747 [GRCh37] Chr17:17p11.2 |
likely benign |
NM_016239.4(MYO15A):c.1898_1899delinsAG (p.Pro633Gln) |
indel |
not provided [RCV002210994] |
Chr17:18120698..18120699 [GRCh38] Chr17:18024012..18024013 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.4717G>A (p.Ala1573Thr) |
single nucleotide variant |
not provided [RCV002107829] |
Chr17:18136624 [GRCh38] Chr17:18039938 [GRCh37] Chr17:17p11.2 |
likely benign |
NM_016239.4(MYO15A):c.773A>C (p.Glu258Ala) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 3 [RCV002481028]|not provided [RCV002211389] |
Chr17:18119573 [GRCh38] Chr17:18022887 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.10146C>T (p.Leu3382=) |
single nucleotide variant |
not provided [RCV002134576] |
Chr17:18171701 [GRCh38] Chr17:18075015 [GRCh37] Chr17:17p11.2 |
likely benign |
NM_016239.4(MYO15A):c.1464T>C (p.Phe488=) |
single nucleotide variant |
not provided [RCV002197491] |
Chr17:18120264 [GRCh38] Chr17:18023578 [GRCh37] Chr17:17p11.2 |
likely benign |
NM_016239.4(MYO15A):c.2257G>C (p.Ala753Pro) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 3 [RCV002224983]|not provided [RCV002274202] |
Chr17:18121057 [GRCh38] Chr17:18024371 [GRCh37] Chr17:17p11.2 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_016239.4(MYO15A):c.4441T>C (p.Ser1481Pro) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 3 [RCV002224995] |
Chr17:18133345 [GRCh38] Chr17:18036659 [GRCh37] Chr17:17p11.2 |
pathogenic |
NM_016239.4(MYO15A):c.4567C>A (p.Leu1523Met) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 3 [RCV002224996] |
Chr17:18135795 [GRCh38] Chr17:18039109 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.2586G>A (p.Leu862=) |
single nucleotide variant |
not provided [RCV002079827] |
Chr17:18121386 [GRCh38] Chr17:18024700 [GRCh37] Chr17:17p11.2 |
likely benign |
NM_016239.4(MYO15A):c.2705C>T (p.Ala902Val) |
single nucleotide variant |
not provided [RCV002112760] |
Chr17:18121505 [GRCh38] Chr17:18024819 [GRCh37] Chr17:17p11.2 |
likely benign |
NM_016239.4(MYO15A):c.6716A>C (p.His2239Pro) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 3 [RCV002225017] |
Chr17:18148520 [GRCh38] Chr17:18051834 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.6956+9C>G |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 3 [RCV002225020] |
Chr17:18148961 [GRCh38] Chr17:18052275 [GRCh37] Chr17:17p11.2 |
pathogenic |
NM_016239.4(MYO15A):c.7698_7699del (p.Glu2567fs) |
deletion |
Autosomal recessive nonsyndromic hearing loss 3 [RCV002225023] |
Chr17:18151438..18151439 [GRCh38] Chr17:18054752..18054753 [GRCh37] Chr17:17p11.2 |
pathogenic |
NM_016239.4(MYO15A):c.7771del (p.Arg2591fs) |
deletion |
Autosomal recessive nonsyndromic hearing loss 3 [RCV002225024] |
Chr17:18151510 [GRCh38] Chr17:18054824 [GRCh37] Chr17:17p11.2 |
likely pathogenic |
NM_016239.4(MYO15A):c.8324G>T (p.Arg2775Leu) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 3 [RCV002225031] |
Chr17:18155209 [GRCh38] Chr17:18058523 [GRCh37] Chr17:17p11.2 |
pathogenic |
NM_016239.4(MYO15A):c.8459G>C (p.Ser2820Thr) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 3 [RCV002225034] |
Chr17:18155432 [GRCh38] Chr17:18058746 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.9401G>C (p.Arg3134Pro) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 3 [RCV002225046] |
Chr17:18161331 [GRCh38] Chr17:18064645 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.2409G>C (p.Thr803=) |
single nucleotide variant |
not provided [RCV002080579] |
Chr17:18121209 [GRCh38] Chr17:18024523 [GRCh37] Chr17:17p11.2 |
likely benign |
NM_016239.4(MYO15A):c.6560G>A (p.Arg2187His) |
single nucleotide variant |
not provided [RCV002113442] |
Chr17:18148079 [GRCh38] Chr17:18051393 [GRCh37] Chr17:17p11.2 |
likely benign |
NM_016239.4(MYO15A):c.8613C>T (p.Tyr2871=) |
single nucleotide variant |
not provided [RCV002128662] |
Chr17:18156965 [GRCh38] Chr17:18060279 [GRCh37] Chr17:17p11.2 |
likely benign |
NM_016239.4(MYO15A):c.9230-11C>A |
single nucleotide variant |
not provided [RCV002096743] |
Chr17:18159595 [GRCh38] Chr17:18062909 [GRCh37] Chr17:17p11.2 |
likely benign |
NM_016239.4(MYO15A):c.6046+19G>C |
single nucleotide variant |
not provided [RCV002150521] |
Chr17:18143815 [GRCh38] Chr17:18047129 [GRCh37] Chr17:17p11.2 |
likely benign |
NM_016239.4(MYO15A):c.1201del (p.Tyr401fs) |
deletion |
Autosomal recessive nonsyndromic hearing loss 3 [RCV002224980] |
Chr17:18119997 [GRCh38] Chr17:18023311 [GRCh37] Chr17:17p11.2 |
pathogenic |
NM_016239.4(MYO15A):c.3141del (p.Lys1048fs) |
deletion |
Autosomal recessive nonsyndromic hearing loss 3 [RCV002224986] |
Chr17:18121936 [GRCh38] Chr17:18025250 [GRCh37] Chr17:17p11.2 |
pathogenic |
NM_016239.4(MYO15A):c.3926A>T (p.Gln1309Leu) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 3 [RCV002224990] |
Chr17:18126850 [GRCh38] Chr17:18030164 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.4817A>G (p.Asn1606Ser) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 3 [RCV002224999] |
Chr17:18137621 [GRCh38] Chr17:18040935 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.6616T>A (p.Leu2206Ile) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 3 [RCV002225015] |
Chr17:18148135 [GRCh38] Chr17:18051449 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.6764+1G>T |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 3 [RCV002225018] |
Chr17:18148569 [GRCh38] Chr17:18051883 [GRCh37] Chr17:17p11.2 |
likely pathogenic |
NM_016239.4(MYO15A):c.8245_8246del (p.Gln2749fs) |
microsatellite |
Autosomal recessive nonsyndromic hearing loss 3 [RCV002225028] |
Chr17:18155125..18155126 [GRCh38] Chr17:18058439..18058440 [GRCh37] Chr17:17p11.2 |
likely pathogenic |
NM_016239.4(MYO15A):c.8362C>T (p.Gln2788Ter) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 3 [RCV002225032] |
Chr17:18155335 [GRCh38] Chr17:18058649 [GRCh37] Chr17:17p11.2 |
pathogenic |
NM_016239.4(MYO15A):c.8791del (p.Trp2931fs) |
deletion |
Autosomal recessive nonsyndromic hearing loss 3 [RCV002225038] |
Chr17:18157724 [GRCh38] Chr17:18061038 [GRCh37] Chr17:17p11.2 |
likely pathogenic |
NM_016239.4(MYO15A):c.8088+19G>A |
single nucleotide variant |
not provided [RCV002126494] |
Chr17:18153915 [GRCh38] Chr17:18057229 [GRCh37] Chr17:17p11.2 |
likely benign |
NM_016239.4(MYO15A):c.4326G>A (p.Gly1442=) |
single nucleotide variant |
not provided [RCV002170565] |
Chr17:18133230 [GRCh38] Chr17:18036544 [GRCh37] Chr17:17p11.2 |
likely benign |
NM_016239.4(MYO15A):c.1875C>G (p.Pro625=) |
single nucleotide variant |
not provided [RCV002133337] |
Chr17:18120675 [GRCh38] Chr17:18023989 [GRCh37] Chr17:17p11.2 |
likely benign |
NM_016239.4(MYO15A):c.5134-10C>T |
single nucleotide variant |
not provided [RCV002150736] |
Chr17:18139524 [GRCh38] Chr17:18042838 [GRCh37] Chr17:17p11.2 |
likely benign |
NM_016239.4(MYO15A):c.10053C>T (p.Arg3351=) |
single nucleotide variant |
not provided [RCV002114167] |
Chr17:18167694 [GRCh38] Chr17:18071008 [GRCh37] Chr17:17p11.2 |
likely benign |
NM_016239.4(MYO15A):c.4207-9A>G |
single nucleotide variant |
not provided [RCV002146898] |
Chr17:18132444 [GRCh38] Chr17:18035758 [GRCh37] Chr17:17p11.2 |
likely benign |
NM_016239.4(MYO15A):c.4038+8GT[19] |
microsatellite |
not provided [RCV002077884] |
Chr17:18130818..18130833 [GRCh38] Chr17:18034132..18034147 [GRCh37] Chr17:17p11.2 |
likely benign |
GRCh37/hg19 17p11.2(chr17:16651292-20286898) |
copy number loss |
Smith-Magenis syndrome [RCV002280651] |
Chr17:16651292..20286898 [GRCh37] Chr17:17p11.2 |
pathogenic |
NM_016239.4(MYO15A):c.8967+7C>G |
single nucleotide variant |
not provided [RCV002113865] |
Chr17:18157907 [GRCh38] Chr17:18061221 [GRCh37] Chr17:17p11.2 |
likely benign |
NM_016239.4(MYO15A):c.7966+22dup |
duplication |
not provided [RCV002181094] |
Chr17:18152203..18152204 [GRCh38] Chr17:18055517..18055518 [GRCh37] Chr17:17p11.2 |
likely benign |
NM_016239.4(MYO15A):c.6600G>A (p.Ser2200=) |
single nucleotide variant |
not provided [RCV002217187] |
Chr17:18148119 [GRCh38] Chr17:18051433 [GRCh37] Chr17:17p11.2 |
likely benign |
NM_016239.4(MYO15A):c.6274-17C>T |
single nucleotide variant |
not provided [RCV002138033] |
Chr17:18145855 [GRCh38] Chr17:18049169 [GRCh37] Chr17:17p11.2 |
likely benign |
NM_016239.4(MYO15A):c.8925G>A (p.Val2975=) |
single nucleotide variant |
not provided [RCV002202620] |
Chr17:18157858 [GRCh38] Chr17:18061172 [GRCh37] Chr17:17p11.2 |
likely benign |
NM_016239.4(MYO15A):c.959C>G (p.Ser320Trp) |
single nucleotide variant |
Inborn genetic diseases [RCV003081035]|not provided [RCV002160582] |
Chr17:18119759 [GRCh38] Chr17:18023073 [GRCh37] Chr17:17p11.2 |
likely benign|uncertain significance |
NM_016239.4(MYO15A):c.8077C>T (p.Leu2693=) |
single nucleotide variant |
not provided [RCV002158839] |
Chr17:18153885 [GRCh38] Chr17:18057199 [GRCh37] Chr17:17p11.2 |
likely benign |
NM_016239.4(MYO15A):c.9304-16C>T |
single nucleotide variant |
not provided [RCV002121551] |
Chr17:18159919 [GRCh38] Chr17:18063233 [GRCh37] Chr17:17p11.2 |
likely benign |
NM_016239.4(MYO15A):c.4038+8GT[16] |
microsatellite |
not provided [RCV002143482] |
Chr17:18130818..18130839 [GRCh38] Chr17:18034132..18034153 [GRCh37] Chr17:17p11.2 |
likely benign |
NM_016239.4(MYO15A):c.6463C>T (p.Leu2155Phe) |
single nucleotide variant |
not provided [RCV002251620] |
Chr17:18146061 [GRCh38] Chr17:18049375 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.3942-7C>T |
single nucleotide variant |
not provided [RCV002175885] |
Chr17:18127068 [GRCh38] Chr17:18030382 [GRCh37] Chr17:17p11.2 |
likely benign |
NM_016239.4(MYO15A):c.6768G>T (p.Gly2256=) |
single nucleotide variant |
not provided [RCV002183225] |
Chr17:18148764 [GRCh38] Chr17:18052078 [GRCh37] Chr17:17p11.2 |
likely benign |
NM_016239.4(MYO15A):c.2385G>A (p.Pro795=) |
single nucleotide variant |
not provided [RCV002100978] |
Chr17:18121185 [GRCh38] Chr17:18024499 [GRCh37] Chr17:17p11.2 |
likely benign |
NM_016239.4(MYO15A):c.7787+16G>A |
single nucleotide variant |
not provided [RCV002176399] |
Chr17:18151543 [GRCh38] Chr17:18054857 [GRCh37] Chr17:17p11.2 |
likely benign |
NM_016239.4(MYO15A):c.1467G>A (p.Gly489=) |
single nucleotide variant |
not provided [RCV002140132] |
Chr17:18120267 [GRCh38] Chr17:18023581 [GRCh37] Chr17:17p11.2 |
likely benign |
NM_016239.4(MYO15A):c.4038+17T>C |
single nucleotide variant |
not provided [RCV002123999] |
Chr17:18130827 [GRCh38] Chr17:18034141 [GRCh37] Chr17:17p11.2 |
likely benign |
NM_016239.4(MYO15A):c.4038+19T>C |
single nucleotide variant |
not provided [RCV002124000] |
Chr17:18130829 [GRCh38] Chr17:18034143 [GRCh37] Chr17:17p11.2 |
likely benign |
NM_016239.4(MYO15A):c.5134-14G>T |
single nucleotide variant |
not provided [RCV002143584] |
Chr17:18139520 [GRCh38] Chr17:18042834 [GRCh37] Chr17:17p11.2 |
likely benign |
NM_016239.4(MYO15A):c.8460-14G>A |
single nucleotide variant |
not provided [RCV002140231] |
Chr17:18156181 [GRCh38] Chr17:18059495 [GRCh37] Chr17:17p11.2 |
likely benign |
NM_016239.4(MYO15A):c.117C>A (p.Gly39=) |
single nucleotide variant |
not provided [RCV002158882] |
Chr17:18118917 [GRCh38] Chr17:18022231 [GRCh37] Chr17:17p11.2 |
likely benign |
NM_016239.4(MYO15A):c.3910G>A (p.Asp1304Asn) |
single nucleotide variant |
not provided [RCV002220587] |
Chr17:18126834 [GRCh38] Chr17:18030148 [GRCh37] Chr17:17p11.2 |
likely benign |
NM_016239.4(MYO15A):c.6765-15G>A |
single nucleotide variant |
not provided [RCV002183149] |
Chr17:18148746 [GRCh38] Chr17:18052060 [GRCh37] Chr17:17p11.2 |
likely benign |
NM_016239.4(MYO15A):c.594G>A (p.Ala198=) |
single nucleotide variant |
not provided [RCV002141877] |
Chr17:18119394 [GRCh38] Chr17:18022708 [GRCh37] Chr17:17p11.2 |
likely benign |
NM_016239.4(MYO15A):c.7328-19T>C |
single nucleotide variant |
not provided [RCV002155263] |
Chr17:18150679 [GRCh38] Chr17:18053993 [GRCh37] Chr17:17p11.2 |
likely benign |
NM_016239.4(MYO15A):c.8910_8939del (p.Val2971_Ala2980del) |
deletion |
not provided [RCV002222794] |
Chr17:18157835..18157864 [GRCh38] Chr17:18061149..18061178 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.7623_7624insA (p.Leu2542fs) |
insertion |
not provided [RCV003118214] |
Chr17:18151259..18151260 [GRCh38] Chr17:18054573..18054574 [GRCh37] Chr17:17p11.2 |
pathogenic |
NC_000017.10:g.(?_16842861)_(19578885_?)dup |
duplication |
Familial aplasia of the vermis [RCV003116613]|Immunodeficiency, common variable, 2 [RCV003116614] |
Chr17:16842861..19578885 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.9876G>T (p.Trp3292Cys) |
single nucleotide variant |
not provided [RCV003112357] |
Chr17:18166449 [GRCh38] Chr17:18069763 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.8824C>T (p.Arg2942Cys) |
single nucleotide variant |
not provided [RCV003121108] |
Chr17:18157757 [GRCh38] Chr17:18061071 [GRCh37] Chr17:17p11.2 |
likely benign |
NM_016239.4(MYO15A):c.1573G>A (p.Val525Met) |
single nucleotide variant |
Inborn genetic diseases [RCV003253335] |
Chr17:18120373 [GRCh38] Chr17:18023687 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.7313dup (p.Glu2439fs) |
duplication |
Autosomal recessive nonsyndromic hearing loss 3 [RCV003128283] |
Chr17:18150524..18150525 [GRCh38] Chr17:18053838..18053839 [GRCh37] Chr17:17p11.2 |
likely pathogenic |
NM_016239.4(MYO15A):c.3346G>C (p.Val1116Leu) |
single nucleotide variant |
not provided [RCV003156536] |
Chr17:18122146 [GRCh38] Chr17:18025460 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.1205_1224del (p.Pro402fs) |
deletion |
Autosomal recessive nonsyndromic hearing loss 3 [RCV002251199] |
Chr17:18120003..18120022 [GRCh38] Chr17:18023317..18023336 [GRCh37] Chr17:17p11.2 |
likely pathogenic |
NM_016239.4(MYO15A):c.7472A>G (p.Glu2491Gly) |
single nucleotide variant |
not provided [RCV002272109] |
Chr17:18150912 [GRCh38] Chr17:18054226 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.1648G>A (p.Gly550Ser) |
single nucleotide variant |
not provided [RCV003149246] |
Chr17:18120448 [GRCh38] Chr17:18023762 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.10475dup (p.Leu3493fs) |
duplication |
Autosomal recessive nonsyndromic hearing loss 3 [RCV002251228] |
Chr17:18173904..18173905 [GRCh38] Chr17:18077218..18077219 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.1210G>A (p.Glu404Lys) |
single nucleotide variant |
not provided [RCV002255747] |
Chr17:18120010 [GRCh38] Chr17:18023324 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.8968-1G>T |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 3 [RCV002505896]|not provided [RCV002254059] |
Chr17:18158522 [GRCh38] Chr17:18061836 [GRCh37] Chr17:17p11.2 |
pathogenic |
NM_016239.4(MYO15A):c.8335G>A (p.Ala2779Thr) |
single nucleotide variant |
not provided [RCV003237142] |
Chr17:18155220 [GRCh38] Chr17:18058534 [GRCh37] Chr17:17p11.2 |
uncertain significance |
GRCh37/hg19 17p11.2(chr17:17579860-18469185) |
copy number gain |
Potocki-Lupski syndrome [RCV002280640] |
Chr17:17579860..18469185 [GRCh37] Chr17:17p11.2 |
pathogenic |
NM_016239.4(MYO15A):c.1281C>A (p.His427Gln) |
single nucleotide variant |
not provided [RCV002273634] |
Chr17:18120081 [GRCh38] Chr17:18023395 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.7212G>A (p.Ala2404=) |
single nucleotide variant |
not provided [RCV002265099] |
Chr17:18149580 [GRCh38] Chr17:18052894 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.8428G>A (p.Gly2810Ser) |
single nucleotide variant |
not provided [RCV002260756] |
Chr17:18155401 [GRCh38] Chr17:18058715 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.7327+5G>A |
single nucleotide variant |
not provided [RCV002267376] |
Chr17:18150548 [GRCh38] Chr17:18053862 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.3640C>T (p.Arg1214Trp) |
single nucleotide variant |
not provided [RCV002288121] |
Chr17:18124513 [GRCh38] Chr17:18027827 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.6046+6_6046+7insAAGCACCAGGCGGGT |
insertion |
not provided [RCV002287152] |
Chr17:18143798..18143799 [GRCh38] Chr17:18047112..18047113 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.6530G>A (p.Arg2177Gln) |
single nucleotide variant |
not provided [RCV002275765] |
Chr17:18148049 [GRCh38] Chr17:18051363 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.3474G>A (p.Trp1158Ter) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 3 [RCV002281637] |
Chr17:18122274 [GRCh38] Chr17:18025588 [GRCh37] Chr17:17p11.2 |
pathogenic |
NM_016239.4(MYO15A):c.8601+2T>G |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 3 [RCV002283897] |
Chr17:18156338 [GRCh38] Chr17:18059652 [GRCh37] Chr17:17p11.2 |
likely pathogenic |
NM_016239.4(MYO15A):c.7957C>A (p.Pro2653Thr) |
single nucleotide variant |
not provided [RCV002265295] |
Chr17:18152175 [GRCh38] Chr17:18055489 [GRCh37] Chr17:17p11.2 |
uncertain significance |
GRCh37/hg19 17p11.2(chr17:16736709-20339460)x3 |
copy number gain |
See cases [RCV002292216] |
Chr17:16736709..20339460 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.648C>A (p.His216Gln) |
single nucleotide variant |
not provided [RCV002274590] |
Chr17:18119448 [GRCh38] Chr17:18022762 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.8620G>A (p.Ala2874Thr) |
single nucleotide variant |
not provided [RCV002287001] |
Chr17:18156972 [GRCh38] Chr17:18060286 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.4360G>T (p.Asp1454Tyr) |
single nucleotide variant |
not provided [RCV003232971] |
Chr17:18133264 [GRCh38] Chr17:18036578 [GRCh37] Chr17:17p11.2 |
uncertain significance |
Single allele |
complex |
PMP22-RAI1 contiguous gene duplication syndrome [RCV002280690] |
Chr17:14876984..22124952 [GRCh37] Chr17:17p12-11.2 |
pathogenic |
NM_016239.4(MYO15A):c.1913G>A (p.Ser638Asn) |
single nucleotide variant |
not provided [RCV002283225] |
Chr17:18120713 [GRCh38] Chr17:18024027 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.10425C>A (p.Tyr3475Ter) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 3 [RCV002287843] |
Chr17:18173855 [GRCh38] Chr17:18077169 [GRCh37] Chr17:17p11.2 |
pathogenic |
NM_016239.4(MYO15A):c.7728C>G (p.Ile2576Met) |
single nucleotide variant |
not provided [RCV002293827] |
Chr17:18151468 [GRCh38] Chr17:18054782 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.32C>A (p.Ala11Asp) |
single nucleotide variant |
not provided [RCV002281395] |
Chr17:18118832 [GRCh38] Chr17:18022146 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.160C>T (p.Arg54Cys) |
single nucleotide variant |
not provided [RCV002287031] |
Chr17:18118960 [GRCh38] Chr17:18022274 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.2615G>C (p.Trp872Ser) |
single nucleotide variant |
not provided [RCV002297623] |
Chr17:18121415 [GRCh38] Chr17:18024729 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.8812G>A (p.Gly2938Arg) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 3 [RCV003148577] |
Chr17:18157745 [GRCh38] Chr17:18061059 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.1445G>A (p.Arg482Gln) |
single nucleotide variant |
not provided [RCV003156514] |
Chr17:18120245 [GRCh38] Chr17:18023559 [GRCh37] Chr17:17p11.2 |
likely pathogenic |
NM_016239.4(MYO15A):c.3157G>C (p.Glu1053Gln) |
single nucleotide variant |
Inborn genetic diseases [RCV003258014] |
Chr17:18121957 [GRCh38] Chr17:18025271 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.1918G>A (p.Asp640Asn) |
single nucleotide variant |
Inborn genetic diseases [RCV003262758] |
Chr17:18120718 [GRCh38] Chr17:18024032 [GRCh37] Chr17:17p11.2 |
likely benign |
NM_016239.4(MYO15A):c.8450G>C (p.Arg2817Pro) |
single nucleotide variant |
not provided [RCV003156593] |
Chr17:18155423 [GRCh38] Chr17:18058737 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.5074C>T (p.Pro1692Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV003262144] |
Chr17:18138877 [GRCh38] Chr17:18042191 [GRCh37] Chr17:17p11.2 |
uncertain significance |
GRCh37/hg19 17p11.2(chr17:17103571-19331028)x3 |
copy number gain |
not provided [RCV002474502] |
Chr17:17103571..19331028 [GRCh37] Chr17:17p11.2 |
pathogenic |
NM_016239.4(MYO15A):c.8855C>T (p.Ala2952Val) |
single nucleotide variant |
not provided [RCV002469842] |
Chr17:18157788 [GRCh38] Chr17:18061102 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.2879C>G (p.Pro960Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV003269169]|not provided [RCV002464806] |
Chr17:18121679 [GRCh38] Chr17:18024993 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.9369C>A (p.Asp3123Glu) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 3 [RCV002465018] |
Chr17:18160000 [GRCh38] Chr17:18063314 [GRCh37] Chr17:17p11.2 |
benign|uncertain significance |
NM_016239.4(MYO15A):c.3259G>A (p.Ala1087Thr) |
single nucleotide variant |
not provided [RCV002474478] |
Chr17:18122059 [GRCh38] Chr17:18025373 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.8449C>T (p.Arg2817Cys) |
single nucleotide variant |
not provided [RCV002469850] |
Chr17:18155422 [GRCh38] Chr17:18058736 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.9401G>A (p.Arg3134Gln) |
single nucleotide variant |
not provided [RCV002464856] |
Chr17:18161331 [GRCh38] Chr17:18064645 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.7657T>A (p.Ser2553Thr) |
single nucleotide variant |
not provided [RCV002467241] |
Chr17:18151397 [GRCh38] Chr17:18054711 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.8911G>A (p.Val2971Met) |
single nucleotide variant |
Inborn genetic diseases [RCV002772271] |
Chr17:18157844 [GRCh38] Chr17:18061158 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.881A>G (p.Tyr294Cys) |
single nucleotide variant |
Inborn genetic diseases [RCV002749120] |
Chr17:18119681 [GRCh38] Chr17:18022995 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.4355C>T (p.Ala1452Val) |
single nucleotide variant |
not provided [RCV002295168] |
Chr17:18133259 [GRCh38] Chr17:18036573 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.2354G>A (p.Gly785Asp) |
single nucleotide variant |
not provided [RCV002300781] |
Chr17:18121154 [GRCh38] Chr17:18024468 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.8910del (p.Val2971fs) |
deletion |
Autosomal recessive nonsyndromic hearing loss 3 [RCV002444391] |
Chr17:18157842 [GRCh38] Chr17:18061156 [GRCh37] Chr17:17p11.2 |
likely pathogenic |
NM_016239.4(MYO15A):c.743G>C (p.Arg248Pro) |
single nucleotide variant |
not provided [RCV002299146] |
Chr17:18119543 [GRCh38] Chr17:18022857 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.4147G>A (p.Val1383Met) |
single nucleotide variant |
not provided [RCV002616194] |
Chr17:18131472 [GRCh38] Chr17:18034786 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.5911-9C>T |
single nucleotide variant |
not provided [RCV002837745] |
Chr17:18143557 [GRCh38] Chr17:18046871 [GRCh37] Chr17:17p11.2 |
likely benign |
NM_016239.4(MYO15A):c.5910+3A>G |
single nucleotide variant |
not provided [RCV002511241] |
Chr17:18142843 [GRCh38] Chr17:18046157 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.4410G>C (p.Glu1470Asp) |
single nucleotide variant |
Inborn genetic diseases [RCV002777108] |
Chr17:18133314 [GRCh38] Chr17:18036628 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.5155A>G (p.Asn1719Asp) |
single nucleotide variant |
not provided [RCV003015833] |
Chr17:18139555 [GRCh38] Chr17:18042869 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.8789-2A>G |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 3 [RCV002510689] |
Chr17:18157720 [GRCh38] Chr17:18061034 [GRCh37] Chr17:17p11.2 |
likely pathogenic |
NM_016239.4(MYO15A):c.5450G>A (p.Arg1817His) |
single nucleotide variant |
Inborn genetic diseases [RCV002729568] |
Chr17:18141062 [GRCh38] Chr17:18044376 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.7772G>A (p.Arg2591Gln) |
single nucleotide variant |
Inborn genetic diseases [RCV003095593]|not provided [RCV003088688] |
Chr17:18151512 [GRCh38] Chr17:18054826 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.8713+5G>C |
single nucleotide variant |
not provided [RCV002751213] |
Chr17:18157070 [GRCh38] Chr17:18060384 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.6177+2T>G |
single nucleotide variant |
not provided [RCV002775052] |
Chr17:18144002 [GRCh38] Chr17:18047316 [GRCh37] Chr17:17p11.2 |
likely pathogenic |
NM_016239.4(MYO15A):c.6046+18G>C |
single nucleotide variant |
not provided [RCV002776292] |
Chr17:18143814 [GRCh38] Chr17:18047128 [GRCh37] Chr17:17p11.2 |
likely benign |
NM_016239.4(MYO15A):c.5392C>T (p.Pro1798Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV002749958] |
Chr17:18140818 [GRCh38] Chr17:18044132 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.633G>C (p.Glu211Asp) |
single nucleotide variant |
Inborn genetic diseases [RCV002905899] |
Chr17:18119433 [GRCh38] Chr17:18022747 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.2024C>G (p.Pro675Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV002905190] |
Chr17:18120824 [GRCh38] Chr17:18024138 [GRCh37] Chr17:17p11.2 |
likely benign|uncertain significance |
NM_016239.4(MYO15A):c.4031A>G (p.Gln1344Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV002859322] |
Chr17:18127164 [GRCh38] Chr17:18030478 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.7477C>G (p.Pro2493Ala) |
single nucleotide variant |
Inborn genetic diseases [RCV002840380] |
Chr17:18151113 [GRCh38] Chr17:18054427 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.1995G>A (p.Val665=) |
single nucleotide variant |
not provided [RCV002882243] |
Chr17:18120795 [GRCh38] Chr17:18024109 [GRCh37] Chr17:17p11.2 |
likely benign |
NM_016239.4(MYO15A):c.5482C>T (p.Arg1828Cys) |
single nucleotide variant |
not provided [RCV003097610] |
Chr17:18141094 [GRCh38] Chr17:18044408 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.8161A>C (p.Thr2721Pro) |
single nucleotide variant |
not provided [RCV003034193] |
Chr17:18154692 [GRCh38] Chr17:18058006 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.2215C>T (p.Pro739Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV002733162] |
Chr17:18121015 [GRCh38] Chr17:18024329 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.7210G>A (p.Ala2404Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV002794245] |
Chr17:18149578 [GRCh38] Chr17:18052892 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.6325T>C (p.Phe2109Leu) |
single nucleotide variant |
not provided [RCV003034858] |
Chr17:18145923 [GRCh38] Chr17:18049237 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.1619G>A (p.Arg540His) |
single nucleotide variant |
not provided [RCV002613757] |
Chr17:18120419 [GRCh38] Chr17:18023733 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.10351-16C>T |
single nucleotide variant |
not provided [RCV002731620] |
Chr17:18173765 [GRCh38] Chr17:18077079 [GRCh37] Chr17:17p11.2 |
likely benign |
NM_016239.4(MYO15A):c.3443G>C (p.Arg1148Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV002992050] |
Chr17:18122243 [GRCh38] Chr17:18025557 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.4038+6_4038+7insTGTG |
insertion |
not provided [RCV002993764] |
Chr17:18130816..18130817 [GRCh38] Chr17:18034130..18034131 [GRCh37] Chr17:17p11.2 |
likely benign |
NM_016239.4(MYO15A):c.1117G>C (p.Gly373Arg) |
single nucleotide variant |
not provided [RCV002615346] |
Chr17:18119917 [GRCh38] Chr17:18023231 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.7961C>T (p.Thr2654Ile) |
single nucleotide variant |
not provided [RCV002615239] |
Chr17:18152179 [GRCh38] Chr17:18055493 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.1034C>T (p.Pro345Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV002774058] |
Chr17:18119834 [GRCh38] Chr17:18023148 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.9054G>T (p.Lys3018Asn) |
single nucleotide variant |
not provided [RCV002726811] |
Chr17:18158609 [GRCh38] Chr17:18061923 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.1540G>A (p.Glu514Lys) |
single nucleotide variant |
not provided [RCV002755409] |
Chr17:18120340 [GRCh38] Chr17:18023654 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.2054C>A (p.Ser685Ter) |
single nucleotide variant |
not provided [RCV002775014] |
Chr17:18120854 [GRCh38] Chr17:18024168 [GRCh37] Chr17:17p11.2 |
pathogenic |
NM_016239.4(MYO15A):c.2422C>T (p.Pro808Ser) |
single nucleotide variant |
not provided [RCV002972224] |
Chr17:18121222 [GRCh38] Chr17:18024536 [GRCh37] Chr17:17p11.2 |
likely benign |
NM_016239.4(MYO15A):c.7244G>A (p.Arg2415His) |
single nucleotide variant |
Inborn genetic diseases [RCV002967593]|not provided [RCV002967592] |
Chr17:18150460 [GRCh38] Chr17:18053774 [GRCh37] Chr17:17p11.2 |
likely benign|uncertain significance |
NM_016239.4(MYO15A):c.3609+6dup |
duplication |
not provided [RCV002861825] |
Chr17:18122413..18122414 [GRCh38] Chr17:18025727..18025728 [GRCh37] Chr17:17p11.2 |
likely benign |
NM_016239.4(MYO15A):c.2681C>T (p.Pro894Leu) |
single nucleotide variant |
not provided [RCV002730077] |
Chr17:18121481 [GRCh38] Chr17:18024795 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.359T>G (p.Leu120Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV002773986] |
Chr17:18119159 [GRCh38] Chr17:18022473 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.1167C>A (p.Asp389Glu) |
single nucleotide variant |
not provided [RCV003033390] |
Chr17:18119967 [GRCh38] Chr17:18023281 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.1758C>T (p.Ile586=) |
single nucleotide variant |
not provided [RCV002618645] |
Chr17:18120558 [GRCh38] Chr17:18023872 [GRCh37] Chr17:17p11.2 |
likely benign |
NM_016239.4(MYO15A):c.9881G>A (p.Arg3294Gln) |
single nucleotide variant |
not provided [RCV002462610] |
Chr17:18166454 [GRCh38] Chr17:18069768 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.8731G>A (p.Val2911Met) |
single nucleotide variant |
Inborn genetic diseases [RCV002688488] |
Chr17:18157173 [GRCh38] Chr17:18060487 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.2513C>T (p.Ser838Leu) |
single nucleotide variant |
not provided [RCV002511463] |
Chr17:18121313 [GRCh38] Chr17:18024627 [GRCh37] Chr17:17p11.2 |
conflicting interpretations of pathogenicity |
NM_016239.4(MYO15A):c.2348C>G (p.Ser783Trp) |
single nucleotide variant |
not provided [RCV002462737] |
Chr17:18121148 [GRCh38] Chr17:18024462 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.9G>A (p.Lys3=) |
single nucleotide variant |
not provided [RCV002755926] |
Chr17:18118809 [GRCh38] Chr17:18022123 [GRCh37] Chr17:17p11.2 |
likely benign |
NM_016239.4(MYO15A):c.9811C>T (p.Arg3271Cys) |
single nucleotide variant |
not provided [RCV002509936] |
Chr17:18166384 [GRCh38] Chr17:18069698 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.546G>C (p.Arg182=) |
single nucleotide variant |
not provided [RCV002908268] |
Chr17:18119346 [GRCh38] Chr17:18022660 [GRCh37] Chr17:17p11.2 |
likely benign |
NM_016239.4(MYO15A):c.712T>G (p.Tyr238Asp) |
single nucleotide variant |
Inborn genetic diseases [RCV002882485] |
Chr17:18119512 [GRCh38] Chr17:18022826 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.766G>A (p.Glu256Lys) |
single nucleotide variant |
Inborn genetic diseases [RCV002905382] |
Chr17:18119566 [GRCh38] Chr17:18022880 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.8387G>A (p.Gly2796Asp) |
single nucleotide variant |
not provided [RCV002705892] |
Chr17:18155360 [GRCh38] Chr17:18058674 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.8926G>T (p.Ala2976Ser) |
single nucleotide variant |
not provided [RCV002622856] |
Chr17:18157859 [GRCh38] Chr17:18061173 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.1519T>G (p.Leu507Val) |
single nucleotide variant |
Inborn genetic diseases [RCV002696343]|not provided [RCV003149057] |
Chr17:18120319 [GRCh38] Chr17:18023633 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.10292C>T (p.Ala3431Val) |
single nucleotide variant |
Inborn genetic diseases [RCV002762424] |
Chr17:18172232 [GRCh38] Chr17:18075546 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.10083-12C>T |
single nucleotide variant |
not provided [RCV002622265] |
Chr17:18171626 [GRCh38] Chr17:18074940 [GRCh37] Chr17:17p11.2 |
likely benign |
NM_016239.4(MYO15A):c.4615A>G (p.Ile1539Val) |
single nucleotide variant |
Inborn genetic diseases [RCV002572174]|not provided [RCV002572002] |
Chr17:18136435 [GRCh38] Chr17:18039749 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.4038+8GT[32] |
microsatellite |
not provided [RCV003039657] |
Chr17:18130817..18130818 [GRCh38] Chr17:18034131..18034132 [GRCh37] Chr17:17p11.2 |
benign |
NM_016239.4(MYO15A):c.2201A>C (p.Asp734Ala) |
single nucleotide variant |
Inborn genetic diseases [RCV002692472] |
Chr17:18121001 [GRCh38] Chr17:18024315 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.4038+8GT[13] |
microsatellite |
not provided [RCV002979031] |
Chr17:18130818..18130845 [GRCh38] Chr17:18034132..18034159 [GRCh37] Chr17:17p11.2 |
likely benign |
NM_016239.4(MYO15A):c.10465C>T (p.Arg3489Cys) |
single nucleotide variant |
Inborn genetic diseases [RCV002981227]|not provided [RCV003314757] |
Chr17:18173895 [GRCh38] Chr17:18077209 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.2791G>A (p.Val931Met) |
single nucleotide variant |
not provided [RCV002639323] |
Chr17:18121591 [GRCh38] Chr17:18024905 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.10006G>A (p.Glu3336Lys) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 3 [RCV003135228]|Inborn genetic diseases [RCV002708201] |
Chr17:18167647 [GRCh38] Chr17:18070961 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.8162C>T (p.Thr2721Met) |
single nucleotide variant |
Inborn genetic diseases [RCV002925897] |
Chr17:18154693 [GRCh38] Chr17:18058007 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.4320+2_4320+3insA |
insertion |
not provided [RCV002695924] |
Chr17:18132568..18132569 [GRCh38] Chr17:18035882..18035883 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.7263G>A (p.Gln2421=) |
single nucleotide variant |
not provided [RCV002953433] |
Chr17:18150479 [GRCh38] Chr17:18053793 [GRCh37] Chr17:17p11.2 |
likely benign |
NM_016239.4(MYO15A):c.6046+16G>A |
single nucleotide variant |
not provided [RCV002593201] |
Chr17:18143812 [GRCh38] Chr17:18047126 [GRCh37] Chr17:17p11.2 |
likely benign |
NM_016239.4(MYO15A):c.5639G>A (p.Gly1880Glu) |
single nucleotide variant |
not provided [RCV003019450] |
Chr17:18141760 [GRCh38] Chr17:18045074 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.2881G>A (p.Glu961Lys) |
single nucleotide variant |
Inborn genetic diseases [RCV002844518] |
Chr17:18121681 [GRCh38] Chr17:18024995 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.1891G>C (p.Ala631Pro) |
single nucleotide variant |
Inborn genetic diseases [RCV002845716] |
Chr17:18120691 [GRCh38] Chr17:18024005 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.6657G>C (p.Lys2219Asn) |
single nucleotide variant |
not provided [RCV002923088] |
Chr17:18148176 [GRCh38] Chr17:18051490 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.3942T>C (p.Ser1314=) |
single nucleotide variant |
not provided [RCV002638952] |
Chr17:18127075 [GRCh38] Chr17:18030389 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.1283C>T (p.Ala428Val) |
single nucleotide variant |
Inborn genetic diseases [RCV002822181] |
Chr17:18120083 [GRCh38] Chr17:18023397 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.7973C>T (p.Pro2658Leu) |
single nucleotide variant |
not provided [RCV003037038] |
Chr17:18153781 [GRCh38] Chr17:18057095 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.1888A>G (p.Arg630Gly) |
single nucleotide variant |
Inborn genetic diseases [RCV002943036]|not provided [RCV002923952] |
Chr17:18120688 [GRCh38] Chr17:18024002 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.8275C>T (p.Arg2759Trp) |
single nucleotide variant |
not provided [RCV002618949] |
Chr17:18155160 [GRCh38] Chr17:18058474 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.9304-8C>T |
single nucleotide variant |
not provided [RCV002591125] |
Chr17:18159927 [GRCh38] Chr17:18063241 [GRCh37] Chr17:17p11.2 |
likely benign |
NM_016239.4(MYO15A):c.8232C>A (p.Asn2744Lys) |
single nucleotide variant |
not provided [RCV002796801] |
Chr17:18155117 [GRCh38] Chr17:18058431 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.7967-14C>T |
single nucleotide variant |
not provided [RCV002781406] |
Chr17:18153761 [GRCh38] Chr17:18057075 [GRCh37] Chr17:17p11.2 |
likely benign |
NM_016239.4(MYO15A):c.6845A>G (p.Tyr2282Cys) |
single nucleotide variant |
not provided [RCV003079211] |
Chr17:18148841 [GRCh38] Chr17:18052155 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.4038+8GT[35] |
microsatellite |
not provided [RCV002913000] |
Chr17:18130817..18130818 [GRCh38] Chr17:18034131..18034132 [GRCh37] Chr17:17p11.2 |
benign |
NM_016239.4(MYO15A):c.6017A>G (p.Glu2006Gly) |
single nucleotide variant |
not provided [RCV002867890] |
Chr17:18143767 [GRCh38] Chr17:18047081 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.5762G>A (p.Arg1921Gln) |
single nucleotide variant |
Inborn genetic diseases [RCV002799714] |
Chr17:18142191 [GRCh38] Chr17:18045505 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.8059G>T (p.Ala2687Ser) |
single nucleotide variant |
not provided [RCV003021054] |
Chr17:18153867 [GRCh38] Chr17:18057181 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.8597A>G (p.Lys2866Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV002691761] |
Chr17:18156332 [GRCh38] Chr17:18059646 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.6571G>A (p.Ala2191Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV002925162] |
Chr17:18148090 [GRCh38] Chr17:18051404 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.5198G>A (p.Arg1733Gln) |
single nucleotide variant |
not provided [RCV002570255] |
Chr17:18139598 [GRCh38] Chr17:18042912 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.7654+15C>A |
single nucleotide variant |
not provided [RCV002571049] |
Chr17:18151305 [GRCh38] Chr17:18054619 [GRCh37] Chr17:17p11.2 |
likely benign |
NM_016239.4(MYO15A):c.7688C>T (p.Thr2563Met) |
single nucleotide variant |
Inborn genetic diseases [RCV002848552] |
Chr17:18151428 [GRCh38] Chr17:18054742 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.6675C>T (p.Asp2225=) |
single nucleotide variant |
not provided [RCV002781032] |
Chr17:18148194 [GRCh38] Chr17:18051508 [GRCh37] Chr17:17p11.2 |
likely benign |
NM_016239.4(MYO15A):c.10152G>A (p.Leu3384=) |
single nucleotide variant |
not provided [RCV002735206] |
Chr17:18171707 [GRCh38] Chr17:18075021 [GRCh37] Chr17:17p11.2 |
likely benign |
NM_016239.4(MYO15A):c.2825C>T (p.Pro942Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV002569690]|not provided [RCV002575114] |
Chr17:18121625 [GRCh38] Chr17:18024939 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.1144G>A (p.Glu382Lys) |
single nucleotide variant |
Inborn genetic diseases [RCV002781655] |
Chr17:18119944 [GRCh38] Chr17:18023258 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.9172T>C (p.Ser3058Pro) |
single nucleotide variant |
not provided [RCV002622547] |
Chr17:18159290 [GRCh38] Chr17:18062604 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.411C>T (p.Leu137=) |
single nucleotide variant |
not provided [RCV002796279] |
Chr17:18119211 [GRCh38] Chr17:18022525 [GRCh37] Chr17:17p11.2 |
likely benign |
NM_016239.4(MYO15A):c.5997dup (p.His2000fs) |
duplication |
not provided [RCV002870785] |
Chr17:18143743..18143744 [GRCh38] Chr17:18047057..18047058 [GRCh37] Chr17:17p11.2 |
pathogenic |
NM_016239.4(MYO15A):c.5061G>A (p.Pro1687=) |
single nucleotide variant |
not provided [RCV002575795] |
Chr17:18138864 [GRCh38] Chr17:18042178 [GRCh37] Chr17:17p11.2 |
likely benign |
NM_016239.4(MYO15A):c.7422G>C (p.Thr2474=) |
single nucleotide variant |
not provided [RCV002745238] |
Chr17:18150862 [GRCh38] Chr17:18054176 [GRCh37] Chr17:17p11.2 |
likely benign |
NM_016239.4(MYO15A):c.218A>G (p.Lys73Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV002892989] |
Chr17:18119018 [GRCh38] Chr17:18022332 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.9949-13G>A |
single nucleotide variant |
not provided [RCV002852387] |
Chr17:18167577 [GRCh38] Chr17:18070891 [GRCh37] Chr17:17p11.2 |
likely benign |
NM_016239.4(MYO15A):c.951G>A (p.Ala317=) |
single nucleotide variant |
not provided [RCV002668010] |
Chr17:18119751 [GRCh38] Chr17:18023065 [GRCh37] Chr17:17p11.2 |
likely benign |
NM_016239.4(MYO15A):c.3756+6G>A |
single nucleotide variant |
not provided [RCV002642221] |
Chr17:18125237 [GRCh38] Chr17:18028551 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.7905G>A (p.Glu2635=) |
single nucleotide variant |
not provided [RCV002918981] |
Chr17:18152123 [GRCh38] Chr17:18055437 [GRCh37] Chr17:17p11.2 |
likely benign |
NM_016239.4(MYO15A):c.1630C>T (p.Arg544Cys) |
single nucleotide variant |
not provided [RCV002958612] |
Chr17:18120430 [GRCh38] Chr17:18023744 [GRCh37] Chr17:17p11.2 |
likely benign|conflicting interpretations of pathogenicity |
NM_016239.4(MYO15A):c.233C>A (p.Thr78Asn) |
single nucleotide variant |
not provided [RCV003007889] |
Chr17:18119033 [GRCh38] Chr17:18022347 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.1887G>C (p.Arg629Ser) |
single nucleotide variant |
not provided [RCV002829058] |
Chr17:18120687 [GRCh38] Chr17:18024001 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.6784C>T (p.Arg2262Cys) |
single nucleotide variant |
not provided [RCV002594914] |
Chr17:18148780 [GRCh38] Chr17:18052094 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.10408A>C (p.Thr3470Pro) |
single nucleotide variant |
not provided [RCV003007914] |
Chr17:18173838 [GRCh38] Chr17:18077152 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.837C>G (p.Tyr279Ter) |
single nucleotide variant |
not provided [RCV002985560] |
Chr17:18119637 [GRCh38] Chr17:18022951 [GRCh37] Chr17:17p11.2 |
pathogenic |
NM_016239.4(MYO15A):c.5081T>C (p.Met1694Thr) |
single nucleotide variant |
not provided [RCV003043552] |
Chr17:18138884 [GRCh38] Chr17:18042198 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.6698A>G (p.Gln2233Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV002764760] |
Chr17:18148502 [GRCh38] Chr17:18051816 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.2963T>G (p.Val988Gly) |
single nucleotide variant |
not provided [RCV002765787] |
Chr17:18121763 [GRCh38] Chr17:18025077 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.10395G>C (p.Arg3465=) |
single nucleotide variant |
not provided [RCV003024013] |
Chr17:18173825 [GRCh38] Chr17:18077139 [GRCh37] Chr17:17p11.2 |
likely benign |
NM_016239.4(MYO15A):c.4207-16C>T |
single nucleotide variant |
not provided [RCV002625587] |
Chr17:18132437 [GRCh38] Chr17:18035751 [GRCh37] Chr17:17p11.2 |
likely benign |
NM_016239.4(MYO15A):c.1138T>C (p.Tyr380His) |
single nucleotide variant |
not provided [RCV002917641] |
Chr17:18119938 [GRCh38] Chr17:18023252 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.4497G>A (p.Glu1499=) |
single nucleotide variant |
not provided [RCV003058182] |
Chr17:18135725 [GRCh38] Chr17:18039039 [GRCh37] Chr17:17p11.2 |
likely benign |
NM_016239.4(MYO15A):c.2091C>T (p.Leu697=) |
single nucleotide variant |
not provided [RCV002624191] |
Chr17:18120891 [GRCh38] Chr17:18024205 [GRCh37] Chr17:17p11.2 |
likely benign |
NM_016239.4(MYO15A):c.762C>G (p.Tyr254Ter) |
single nucleotide variant |
not provided [RCV003005930] |
Chr17:18119562 [GRCh38] Chr17:18022876 [GRCh37] Chr17:17p11.2 |
pathogenic |
NM_016239.4(MYO15A):c.3576G>A (p.Trp1192Ter) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 3 [RCV002508345] |
Chr17:18122376 [GRCh38] Chr17:18025690 [GRCh37] Chr17:17p11.2 |
likely pathogenic |
NM_016239.4(MYO15A):c.2326C>T (p.Pro776Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV002743328]|not provided [RCV003128885] |
Chr17:18121126 [GRCh38] Chr17:18024440 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.1781A>C (p.Lys594Thr) |
single nucleotide variant |
not provided [RCV002829057] |
Chr17:18120581 [GRCh38] Chr17:18023895 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.4897A>T (p.Ile1633Leu) |
single nucleotide variant |
not provided [RCV002574239] |
Chr17:18138136 [GRCh38] Chr17:18041450 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.4597-4del |
deletion |
not provided [RCV002623332] |
Chr17:18136411 [GRCh38] Chr17:18039725 [GRCh37] Chr17:17p11.2 |
likely benign |
NM_016239.4(MYO15A):c.3478C>T (p.Arg1160Trp) |
single nucleotide variant |
Inborn genetic diseases [RCV002763955] |
Chr17:18122278 [GRCh38] Chr17:18025592 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.2254G>A (p.Gly752Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV003004423] |
Chr17:18121054 [GRCh38] Chr17:18024368 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.5211+17A>T |
single nucleotide variant |
not provided [RCV002575585] |
Chr17:18139628 [GRCh38] Chr17:18042942 [GRCh37] Chr17:17p11.2 |
likely benign |
NM_016239.4(MYO15A):c.3359G>C (p.Arg1120Pro) |
single nucleotide variant |
Inborn genetic diseases [RCV002826634] |
Chr17:18122159 [GRCh38] Chr17:18025473 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.382A>G (p.Ser128Gly) |
single nucleotide variant |
Inborn genetic diseases [RCV002873518] |
Chr17:18119182 [GRCh38] Chr17:18022496 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.4038+8GT[23] |
microsatellite |
not provided [RCV002894564] |
Chr17:18130818..18130825 [GRCh38] Chr17:18034132..18034139 [GRCh37] Chr17:17p11.2 |
benign |
NM_016239.4(MYO15A):c.2405G>A (p.Arg802His) |
single nucleotide variant |
Inborn genetic diseases [RCV002701808] |
Chr17:18121205 [GRCh38] Chr17:18024519 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.4548G>A (p.Leu1516=) |
single nucleotide variant |
not provided [RCV003005660] |
Chr17:18135776 [GRCh38] Chr17:18039090 [GRCh37] Chr17:17p11.2 |
likely benign |
NM_016239.4(MYO15A):c.6047-15C>T |
single nucleotide variant |
not provided [RCV002575098] |
Chr17:18143855 [GRCh38] Chr17:18047169 [GRCh37] Chr17:17p11.2 |
likely benign |
NM_016239.4(MYO15A):c.6005A>C (p.Glu2002Ala) |
single nucleotide variant |
not provided [RCV002852540] |
Chr17:18143755 [GRCh38] Chr17:18047069 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.937G>A (p.Glu313Lys) |
single nucleotide variant |
Inborn genetic diseases [RCV002804073] |
Chr17:18119737 [GRCh38] Chr17:18023051 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.5761C>T (p.Arg1921Ter) |
single nucleotide variant |
not provided [RCV002740577] |
Chr17:18142190 [GRCh38] Chr17:18045504 [GRCh37] Chr17:17p11.2 |
pathogenic |
NM_016239.4(MYO15A):c.10003A>G (p.Ser3335Gly) |
single nucleotide variant |
Inborn genetic diseases [RCV002581999]|not provided [RCV002574655] |
Chr17:18167644 [GRCh38] Chr17:18070958 [GRCh37] Chr17:17p11.2 |
likely benign|uncertain significance |
NM_016239.4(MYO15A):c.576C>T (p.Arg192=) |
single nucleotide variant |
not provided [RCV002595146] |
Chr17:18119376 [GRCh38] Chr17:18022690 [GRCh37] Chr17:17p11.2 |
benign |
NM_016239.4(MYO15A):c.7798G>A (p.Gly2600Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV002698476] |
Chr17:18151856 [GRCh38] Chr17:18055170 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.3122C>T (p.Pro1041Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV002825895] |
Chr17:18121922 [GRCh38] Chr17:18025236 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.8653C>T (p.Leu2885=) |
single nucleotide variant |
not provided [RCV002710388] |
Chr17:18157005 [GRCh38] Chr17:18060319 [GRCh37] Chr17:17p11.2 |
likely benign |
NM_016239.4(MYO15A):c.6449T>A (p.Leu2150Gln) |
single nucleotide variant |
not provided [RCV003007826] |
Chr17:18146047 [GRCh38] Chr17:18049361 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.1813G>A (p.Ala605Thr) |
single nucleotide variant |
not provided [RCV002623705] |
Chr17:18120613 [GRCh38] Chr17:18023927 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.9884G>A (p.Arg3295His) |
single nucleotide variant |
Inborn genetic diseases [RCV002666945]|not provided [RCV002650135] |
Chr17:18166457 [GRCh38] Chr17:18069771 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.2872C>G (p.Pro958Ala) |
single nucleotide variant |
not provided [RCV002741476] |
Chr17:18121672 [GRCh38] Chr17:18024986 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.5420_5421del (p.Leu1806_Phe1807insTer) |
deletion |
not provided [RCV002830206] |
Chr17:18141031..18141032 [GRCh38] Chr17:18044345..18044346 [GRCh37] Chr17:17p11.2 |
pathogenic |
NM_016239.4(MYO15A):c.4206G>C (p.Gln1402His) |
single nucleotide variant |
not provided [RCV003056250] |
Chr17:18131531 [GRCh38] Chr17:18034845 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.3353T>C (p.Met1118Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV002893218] |
Chr17:18122153 [GRCh38] Chr17:18025467 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.1835A>G (p.Tyr612Cys) |
single nucleotide variant |
Inborn genetic diseases [RCV002665996] |
Chr17:18120635 [GRCh38] Chr17:18023949 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.9767T>C (p.Ile3256Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV003083401]|not provided [RCV003071849] |
Chr17:18163818 [GRCh38] Chr17:18067132 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.6353dup (p.Ala2119fs) |
duplication |
not provided [RCV003065889] |
Chr17:18145950..18145951 [GRCh38] Chr17:18049264..18049265 [GRCh37] Chr17:17p11.2 |
pathogenic |
NM_016239.4(MYO15A):c.10071C>T (p.Tyr3357=) |
single nucleotide variant |
not provided [RCV002941938] |
Chr17:18167712 [GRCh38] Chr17:18071026 [GRCh37] Chr17:17p11.2 |
likely benign |
NM_016239.4(MYO15A):c.8521A>G (p.Ser2841Gly) |
single nucleotide variant |
not provided [RCV002676589] |
Chr17:18156256 [GRCh38] Chr17:18059570 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.2352G>T (p.Pro784=) |
single nucleotide variant |
not provided [RCV002938960] |
Chr17:18121152 [GRCh38] Chr17:18024466 [GRCh37] Chr17:17p11.2 |
likely benign |
NM_016239.4(MYO15A):c.3061C>T (p.Pro1021Ser) |
single nucleotide variant |
not provided [RCV002580534] |
Chr17:18121861 [GRCh38] Chr17:18025175 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.5767C>T (p.Arg1923Cys) |
single nucleotide variant |
not provided [RCV002632323] |
Chr17:18142196 [GRCh38] Chr17:18045510 [GRCh37] Chr17:17p11.2 |
likely benign |
NM_016239.4(MYO15A):c.10554G>A (p.Lys3518=) |
single nucleotide variant |
not provided [RCV003027899] |
Chr17:18178831 [GRCh38] Chr17:18082145 [GRCh37] Chr17:17p11.2 |
likely benign |
NM_016239.4(MYO15A):c.5432T>C (p.Val1811Ala) |
single nucleotide variant |
not provided [RCV002835015] |
Chr17:18141044 [GRCh38] Chr17:18044358 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.9283G>A (p.Val3095Met) |
single nucleotide variant |
Inborn genetic diseases [RCV002673131] |
Chr17:18159659 [GRCh38] Chr17:18062973 [GRCh37] Chr17:17p11.2 |
likely benign|uncertain significance |
NM_016239.4(MYO15A):c.6485C>T (p.Pro2162Leu) |
single nucleotide variant |
not provided [RCV002938393] |
Chr17:18146083 [GRCh38] Chr17:18049397 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.7083G>C (p.Glu2361Asp) |
single nucleotide variant |
not provided [RCV002834536] |
Chr17:18149342 [GRCh38] Chr17:18052656 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.77C>T (p.Pro26Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV002809784] |
Chr17:18118877 [GRCh38] Chr17:18022191 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.1561C>T (p.Pro521Ser) |
single nucleotide variant |
not provided [RCV002599821] |
Chr17:18120361 [GRCh38] Chr17:18023675 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.8167T>G (p.Ser2723Ala) |
single nucleotide variant |
Inborn genetic diseases [RCV002855796] |
Chr17:18154698 [GRCh38] Chr17:18058012 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.5686_5687dup (p.Ser1896fs) |
microsatellite |
not provided [RCV003010104] |
Chr17:18142111..18142112 [GRCh38] Chr17:18045425..18045426 [GRCh37] Chr17:17p11.2 |
pathogenic |
NM_016239.4(MYO15A):c.6668C>T (p.Ala2223Val) |
single nucleotide variant |
not provided [RCV002597671] |
Chr17:18148187 [GRCh38] Chr17:18051501 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.4038+8GT[22] |
microsatellite |
not provided [RCV002895496] |
Chr17:18130818..18130827 [GRCh38] Chr17:18034132..18034141 [GRCh37] Chr17:17p11.2 |
likely benign |
NM_016239.4(MYO15A):c.6094C>T (p.Arg2032Ter) |
single nucleotide variant |
not provided [RCV003029480] |
Chr17:18143917 [GRCh38] Chr17:18047231 [GRCh37] Chr17:17p11.2 |
pathogenic |
NM_016239.4(MYO15A):c.6624G>C (p.Pro2208=) |
single nucleotide variant |
not provided [RCV002937150] |
Chr17:18148143 [GRCh38] Chr17:18051457 [GRCh37] Chr17:17p11.2 |
likely benign |
NM_016239.4(MYO15A):c.5674C>T (p.Gln1892Ter) |
single nucleotide variant |
not provided [RCV002834114] |
Chr17:18142103 [GRCh38] Chr17:18045417 [GRCh37] Chr17:17p11.2 |
pathogenic |
NM_016239.4(MYO15A):c.9304-19C>T |
single nucleotide variant |
not provided [RCV002806345] |
Chr17:18159916 [GRCh38] Chr17:18063230 [GRCh37] Chr17:17p11.2 |
likely benign |
NM_016239.4(MYO15A):c.1632C>A (p.Arg544=) |
single nucleotide variant |
not provided [RCV002597829] |
Chr17:18120432 [GRCh38] Chr17:18023746 [GRCh37] Chr17:17p11.2 |
likely benign |
NM_016239.4(MYO15A):c.5381G>A (p.Arg1794His) |
single nucleotide variant |
Inborn genetic diseases [RCV002672396] |
Chr17:18140807 [GRCh38] Chr17:18044121 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.5407-16C>T |
single nucleotide variant |
not provided [RCV002577641] |
Chr17:18141003 [GRCh38] Chr17:18044317 [GRCh37] Chr17:17p11.2 |
likely benign |
NM_016239.4(MYO15A):c.8083A>G (p.Lys2695Glu) |
single nucleotide variant |
not provided [RCV002715868] |
Chr17:18153891 [GRCh38] Chr17:18057205 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.4745T>C (p.Leu1582Pro) |
single nucleotide variant |
not provided [RCV002895425] |
Chr17:18136652 [GRCh38] Chr17:18039966 [GRCh37] Chr17:17p11.2 |
likely benign |
NM_016239.4(MYO15A):c.5400C>G (p.His1800Gln) |
single nucleotide variant |
Inborn genetic diseases [RCV002896571] |
Chr17:18140826 [GRCh38] Chr17:18044140 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.10083-9C>T |
single nucleotide variant |
not provided [RCV002599248] |
Chr17:18171629 [GRCh38] Chr17:18074943 [GRCh37] Chr17:17p11.2 |
likely benign |
NM_016239.4(MYO15A):c.311C>T (p.Pro104Leu) |
single nucleotide variant |
not provided [RCV002578768] |
Chr17:18119111 [GRCh38] Chr17:18022425 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.5531+14G>C |
single nucleotide variant |
not provided [RCV002645876] |
Chr17:18141157 [GRCh38] Chr17:18044471 [GRCh37] Chr17:17p11.2 |
likely benign |
NM_016239.4(MYO15A):c.10382T>A (p.Ile3461Asn) |
single nucleotide variant |
not provided [RCV003063995] |
Chr17:18173812 [GRCh38] Chr17:18077126 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.2037G>A (p.Pro679=) |
single nucleotide variant |
not provided [RCV003088428] |
Chr17:18120837 [GRCh38] Chr17:18024151 [GRCh37] Chr17:17p11.2 |
likely benign |
NM_016239.4(MYO15A):c.7853A>C (p.Lys2618Thr) |
single nucleotide variant |
not provided [RCV002716520] |
Chr17:18151911 [GRCh38] Chr17:18055225 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.6139A>G (p.Asn2047Asp) |
single nucleotide variant |
not provided [RCV003044310] |
Chr17:18143962 [GRCh38] Chr17:18047276 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.4682C>T (p.Ala1561Val) |
single nucleotide variant |
not provided [RCV002598431] |
Chr17:18136589 [GRCh38] Chr17:18039903 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.631G>A (p.Glu211Lys) |
single nucleotide variant |
Inborn genetic diseases [RCV002714539] |
Chr17:18119431 [GRCh38] Chr17:18022745 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.7960A>G (p.Thr2654Ala) |
single nucleotide variant |
not provided [RCV002921880] |
Chr17:18152178 [GRCh38] Chr17:18055492 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.340C>T (p.Arg114Cys) |
single nucleotide variant |
Inborn genetic diseases [RCV002719529] |
Chr17:18119140 [GRCh38] Chr17:18022454 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.8340+4C>T |
single nucleotide variant |
not provided [RCV002579349] |
Chr17:18155229 [GRCh38] Chr17:18058543 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.6046+18G>T |
single nucleotide variant |
not provided [RCV002601466] |
Chr17:18143814 [GRCh38] Chr17:18047128 [GRCh37] Chr17:17p11.2 |
likely benign |
NM_016239.4(MYO15A):c.1075C>G (p.Pro359Ala) |
single nucleotide variant |
Inborn genetic diseases [RCV002835668] |
Chr17:18119875 [GRCh38] Chr17:18023189 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.2933C>A (p.Pro978His) |
single nucleotide variant |
Inborn genetic diseases [RCV002836180] |
Chr17:18121733 [GRCh38] Chr17:18025047 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.4173del (p.Gln1391fs) |
deletion |
not provided [RCV003062006] |
Chr17:18131498 [GRCh38] Chr17:18034812 [GRCh37] Chr17:17p11.2 |
pathogenic |
NM_016239.4(MYO15A):c.5203C>T (p.Arg1735Trp) |
single nucleotide variant |
not provided [RCV002601816] |
Chr17:18139603 [GRCh38] Chr17:18042917 [GRCh37] Chr17:17p11.2 |
likely pathogenic |
NM_016239.4(MYO15A):c.6004del (p.Glu2002fs) |
deletion |
not provided [RCV003011045] |
Chr17:18143753 [GRCh38] Chr17:18047067 [GRCh37] Chr17:17p11.2 |
pathogenic|likely pathogenic |
NM_016239.4(MYO15A):c.3881T>C (p.Val1294Ala) |
single nucleotide variant |
not provided [RCV002716519] |
Chr17:18126805 [GRCh38] Chr17:18030119 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.8459+14G>T |
single nucleotide variant |
not provided [RCV002630170] |
Chr17:18155446 [GRCh38] Chr17:18058760 [GRCh37] Chr17:17p11.2 |
likely benign |
NM_016239.4(MYO15A):c.5881G>A (p.Ala1961Thr) |
single nucleotide variant |
not provided [RCV002675908] |
Chr17:18142811 [GRCh38] Chr17:18046125 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.1631G>A (p.Arg544His) |
single nucleotide variant |
Inborn genetic diseases [RCV002714171] |
Chr17:18120431 [GRCh38] Chr17:18023745 [GRCh37] Chr17:17p11.2 |
likely benign|uncertain significance |
NM_016239.4(MYO15A):c.9771C>T (p.Phe3257=) |
single nucleotide variant |
not provided [RCV002806164] |
Chr17:18163822 [GRCh38] Chr17:18067136 [GRCh37] Chr17:17p11.2 |
likely benign |
NM_016239.4(MYO15A):c.793G>C (p.Gly265Arg) |
single nucleotide variant |
not provided [RCV002577180] |
Chr17:18119593 [GRCh38] Chr17:18022907 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.7213-3C>T |
single nucleotide variant |
not provided [RCV002895514] |
Chr17:18150426 [GRCh38] Chr17:18053740 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.5360+13G>A |
single nucleotide variant |
not provided [RCV002650441] |
Chr17:18140678 [GRCh38] Chr17:18043992 [GRCh37] Chr17:17p11.2 |
likely benign |
NM_016239.4(MYO15A):c.5890del (p.Ser1964fs) |
deletion |
not provided [RCV002899309] |
Chr17:18142820 [GRCh38] Chr17:18046134 [GRCh37] Chr17:17p11.2 |
pathogenic |
NM_016239.4(MYO15A):c.7399C>T (p.Arg2467Trp) |
single nucleotide variant |
not provided [RCV003063109] |
Chr17:18150839 [GRCh38] Chr17:18054153 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.25A>C (p.Lys9Gln) |
single nucleotide variant |
Inborn genetic diseases [RCV002807943] |
Chr17:18118825 [GRCh38] Chr17:18022139 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.5965-10G>A |
single nucleotide variant |
not provided [RCV003061896] |
Chr17:18143705 [GRCh38] Chr17:18047019 [GRCh37] Chr17:17p11.2 |
likely benign |
NM_016239.4(MYO15A):c.7761C>T (p.Phe2587=) |
single nucleotide variant |
not provided [RCV003026710] |
Chr17:18151501 [GRCh38] Chr17:18054815 [GRCh37] Chr17:17p11.2 |
likely benign |
NM_016239.4(MYO15A):c.7773G>A (p.Arg2591=) |
single nucleotide variant |
not provided [RCV002646345] |
Chr17:18151513 [GRCh38] Chr17:18054827 [GRCh37] Chr17:17p11.2 |
likely benign |
NM_016239.4(MYO15A):c.1419C>G (p.Leu473=) |
single nucleotide variant |
not provided [RCV002938392] |
Chr17:18120219 [GRCh38] Chr17:18023533 [GRCh37] Chr17:17p11.2 |
likely benign |
NM_016239.4(MYO15A):c.185G>A (p.Gly62Asp) |
single nucleotide variant |
not provided [RCV002602399] |
Chr17:18118985 [GRCh38] Chr17:18022299 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.8750T>C (p.Val2917Ala) |
single nucleotide variant |
not provided [RCV002716846] |
Chr17:18157192 [GRCh38] Chr17:18060506 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.3756+20_3756+52del |
deletion |
not provided [RCV002630983] |
Chr17:18125248..18125280 [GRCh38] Chr17:18028562..18028594 [GRCh37] Chr17:17p11.2 |
likely benign |
NM_016239.4(MYO15A):c.962G>C (p.Gly321Ala) |
single nucleotide variant |
not provided [RCV002720809] |
Chr17:18119762 [GRCh38] Chr17:18023076 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.8927C>G (p.Ala2976Gly) |
single nucleotide variant |
not provided [RCV002583722] |
Chr17:18157860 [GRCh38] Chr17:18061174 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.10127C>T (p.Thr3376Met) |
single nucleotide variant |
not provided [RCV002605525] |
Chr17:18171682 [GRCh38] Chr17:18074996 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.1321G>A (p.Ala441Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV002656539] |
Chr17:18120121 [GRCh38] Chr17:18023435 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.2315C>G (p.Pro772Arg) |
single nucleotide variant |
not provided [RCV002585426] |
Chr17:18121115 [GRCh38] Chr17:18024429 [GRCh37] Chr17:17p11.2 |
benign |
NM_016239.4(MYO15A):c.6046+20G>C |
single nucleotide variant |
not provided [RCV002582662] |
Chr17:18143816 [GRCh38] Chr17:18047130 [GRCh37] Chr17:17p11.2 |
likely benign |
NM_016239.4(MYO15A):c.7212+9G>A |
single nucleotide variant |
not provided [RCV002604489] |
Chr17:18149589 [GRCh38] Chr17:18052903 [GRCh37] Chr17:17p11.2 |
likely benign |
NM_016239.4(MYO15A):c.9814C>T (p.Arg3272Cys) |
single nucleotide variant |
Inborn genetic diseases [RCV002944919] |
Chr17:18166387 [GRCh38] Chr17:18069701 [GRCh37] Chr17:17p11.2 |
likely benign |
NM_016239.4(MYO15A):c.2795A>G (p.Asp932Gly) |
single nucleotide variant |
not provided [RCV002635244] |
Chr17:18121595 [GRCh38] Chr17:18024909 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.9518-2A>G |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 3 [RCV003153018] |
Chr17:18162583 [GRCh38] Chr17:18065897 [GRCh37] Chr17:17p11.2 |
pathogenic |
NM_016239.4(MYO15A):c.2753C>T (p.Thr918Met) |
single nucleotide variant |
not provided [RCV002635243] |
Chr17:18121553 [GRCh38] Chr17:18024867 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.9938A>G (p.His3313Arg) |
single nucleotide variant |
not provided [RCV002726061] |
Chr17:18166511 [GRCh38] Chr17:18069825 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.3479G>T (p.Arg1160Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV002944515] |
Chr17:18122279 [GRCh38] Chr17:18025593 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.1318del (p.Asp440fs) |
deletion |
MYO15A-related condition [RCV003404053]|not provided [RCV003071725] |
Chr17:18120117 [GRCh38] Chr17:18023431 [GRCh37] Chr17:17p11.2 |
pathogenic|likely pathogenic |
NM_016239.4(MYO15A):c.7714C>T (p.Pro2572Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV002944997] |
Chr17:18151454 [GRCh38] Chr17:18054768 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.4708A>C (p.Arg1570=) |
single nucleotide variant |
not provided [RCV003067226] |
Chr17:18136615 [GRCh38] Chr17:18039929 [GRCh37] Chr17:17p11.2 |
likely benign |
NM_016239.4(MYO15A):c.5085G>A (p.Pro1695=) |
single nucleotide variant |
not provided [RCV002604571] |
Chr17:18138888 [GRCh38] Chr17:18042202 [GRCh37] Chr17:17p11.2 |
likely benign |
NM_016239.4(MYO15A):c.8382C>T (p.His2794=) |
single nucleotide variant |
not provided [RCV002607965] |
Chr17:18155355 [GRCh38] Chr17:18058669 [GRCh37] Chr17:17p11.2 |
likely benign |
NM_016239.4(MYO15A):c.2257G>A (p.Ala753Thr) |
single nucleotide variant |
not provided [RCV002608124] |
Chr17:18121057 [GRCh38] Chr17:18024371 [GRCh37] Chr17:17p11.2 |
likely benign |
NM_016239.4(MYO15A):c.6633C>T (p.Leu2211=) |
single nucleotide variant |
not provided [RCV002604815] |
Chr17:18148152 [GRCh38] Chr17:18051466 [GRCh37] Chr17:17p11.2 |
likely benign |
NM_016239.4(MYO15A):c.5314G>A (p.Ala1772Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV002656832] |
Chr17:18140619 [GRCh38] Chr17:18043933 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.894C>T (p.Pro298=) |
single nucleotide variant |
not provided [RCV002943637] |
Chr17:18119694 [GRCh38] Chr17:18023008 [GRCh37] Chr17:17p11.2 |
benign |
NM_016239.4(MYO15A):c.9200T>G (p.Leu3067Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV002724238] |
Chr17:18159318 [GRCh38] Chr17:18062632 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.1352G>A (p.Arg451His) |
single nucleotide variant |
Inborn genetic diseases [RCV002677577] |
Chr17:18120152 [GRCh38] Chr17:18023466 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.1946C>G (p.Pro649Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV002677750]|not provided [RCV003481408] |
Chr17:18120746 [GRCh38] Chr17:18024060 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.2222C>T (p.Pro741Leu) |
single nucleotide variant |
not provided [RCV002609467] |
Chr17:18121022 [GRCh38] Chr17:18024336 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.8771G>A (p.Arg2924His) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 3 [RCV003134650]|not provided [RCV003093203] |
Chr17:18157213 [GRCh38] Chr17:18060527 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.8114G>A (p.Ser2705Asn) |
single nucleotide variant |
Inborn genetic diseases [RCV002945060] |
Chr17:18154156 [GRCh38] Chr17:18057470 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.2187G>T (p.Pro729=) |
single nucleotide variant |
not provided [RCV002814300] |
Chr17:18120987 [GRCh38] Chr17:18024301 [GRCh37] Chr17:17p11.2 |
likely benign |
NM_016239.4(MYO15A):c.4482+6G>A |
single nucleotide variant |
not provided [RCV002590212] |
Chr17:18133392 [GRCh38] Chr17:18036706 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.6194del (p.Met2065fs) |
deletion |
Autosomal recessive nonsyndromic hearing loss 3 [RCV003155574] |
Chr17:18144513 [GRCh38] Chr17:18047827 [GRCh37] Chr17:17p11.2 |
pathogenic |
NM_016239.4(MYO15A):c.9443G>A (p.Cys3148Tyr) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 3 [RCV003155577] |
Chr17:18161373 [GRCh38] Chr17:18064687 [GRCh37] Chr17:17p11.2 |
likely pathogenic |
NM_016239.4(MYO15A):c.8831del (p.Pro2944fs) |
deletion |
Autosomal recessive nonsyndromic hearing loss 3 [RCV003155576] |
Chr17:18157762 [GRCh38] Chr17:18061076 [GRCh37] Chr17:17p11.2 |
pathogenic |
NM_016239.4(MYO15A):c.2766G>A (p.Val922=) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 3 [RCV003132790] |
Chr17:18121566 [GRCh38] Chr17:18024880 [GRCh37] Chr17:17p11.2 |
likely benign|uncertain significance |
NM_016239.4(MYO15A):c.6599C>A (p.Ser2200Ter) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 3 [RCV003155575] |
Chr17:18148118 [GRCh38] Chr17:18051432 [GRCh37] Chr17:17p11.2 |
pathogenic |
NM_016239.4(MYO15A):c.10351-15T>G |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 3 [RCV003155578] |
Chr17:18173766 [GRCh38] Chr17:18077080 [GRCh37] Chr17:17p11.2 |
likely pathogenic|uncertain significance |
NM_016239.4(MYO15A):c.4000G>A (p.Ala1334Thr) |
single nucleotide variant |
not provided [RCV003327981] |
Chr17:18127133 [GRCh38] Chr17:18030447 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.6454G>A (p.Ala2152Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV003184865] |
Chr17:18146052 [GRCh38] Chr17:18049366 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.4907A>G (p.Gln1636Arg) |
single nucleotide variant |
not provided [RCV003225388] |
Chr17:18138146 [GRCh38] Chr17:18041460 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.5030A>G (p.Gln1677Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV003218116] |
Chr17:18138833 [GRCh38] Chr17:18042147 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.10508G>A (p.Arg3503His) |
single nucleotide variant |
Inborn genetic diseases [RCV003193074]|not provided [RCV003314763] |
Chr17:18178785 [GRCh38] Chr17:18082099 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.7624C>A (p.Leu2542Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV003193136] |
Chr17:18151260 [GRCh38] Chr17:18054574 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.6466A>G (p.Ser2156Gly) |
single nucleotide variant |
not provided [RCV003159409] |
Chr17:18146064 [GRCh38] Chr17:18049378 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.518C>T (p.Pro173Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV003204911] |
Chr17:18119318 [GRCh38] Chr17:18022632 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.2641C>T (p.Arg881Trp) |
single nucleotide variant |
Inborn genetic diseases [RCV003206296] |
Chr17:18121441 [GRCh38] Chr17:18024755 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.2720G>A (p.Arg907Gln) |
single nucleotide variant |
Inborn genetic diseases [RCV003207939] |
Chr17:18121520 [GRCh38] Chr17:18024834 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.10228G>A (p.Ala3410Thr) |
single nucleotide variant |
not provided [RCV003225597] |
Chr17:18172168 [GRCh38] Chr17:18075482 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.5281G>A (p.Val1761Ile) |
single nucleotide variant |
not provided [RCV003228354] |
Chr17:18140586 [GRCh38] Chr17:18043900 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.8998C>T (p.His3000Tyr) |
single nucleotide variant |
not provided [RCV003225322] |
Chr17:18158553 [GRCh38] Chr17:18061867 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.4596+1G>A |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 3 [RCV003227459] |
Chr17:18135825 [GRCh38] Chr17:18039139 [GRCh37] Chr17:17p11.2 |
pathogenic |
NM_016239.4(MYO15A):c.373_374del (p.Arg125fs) |
deletion |
Autosomal recessive nonsyndromic hearing loss 3 [RCV003137851] |
Chr17:18119173..18119174 [GRCh38] Chr17:18022487..18022488 [GRCh37] Chr17:17p11.2 |
pathogenic |
NM_016239.4(MYO15A):c.4366C>T (p.Arg1456Cys) |
single nucleotide variant |
Inborn genetic diseases [RCV003192991] |
Chr17:18133270 [GRCh38] Chr17:18036584 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.5404_5405delinsGT (p.Lys1802Val) |
indel |
not provided [RCV003223801] |
Chr17:18140830..18140831 [GRCh38] Chr17:18044144..18044145 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.8789-1G>A |
single nucleotide variant |
not provided [RCV003223831] |
Chr17:18157721 [GRCh38] Chr17:18061035 [GRCh37] Chr17:17p11.2 |
likely pathogenic |
NM_016239.4(MYO15A):c.4964A>G (p.Tyr1655Cys) |
single nucleotide variant |
not provided [RCV003222905] |
Chr17:18138203 [GRCh38] Chr17:18041517 [GRCh37] Chr17:17p11.2 |
uncertain significance |
GRCh37/hg19 17p11.2(chr17:17116969-20217378)x1 |
copy number loss |
not provided [RCV003222939] |
Chr17:17116969..20217378 [GRCh37] Chr17:17p11.2 |
pathogenic |
NM_016239.4(MYO15A):c.9775G>T (p.Val3259Phe) |
single nucleotide variant |
Inborn genetic diseases [RCV003194006] |
Chr17:18163826 [GRCh38] Chr17:18067140 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.4072G>A (p.Gly1358Ser) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 3 [RCV003388637]|not provided [RCV003219034] |
Chr17:18131272 [GRCh38] Chr17:18034586 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.3047C>T (p.Ala1016Val) |
single nucleotide variant |
Inborn genetic diseases [RCV003219359] |
Chr17:18121847 [GRCh38] Chr17:18025161 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.9691-2A>C |
single nucleotide variant |
not provided [RCV003228380] |
Chr17:18163740 [GRCh38] Chr17:18067054 [GRCh37] Chr17:17p11.2 |
pathogenic |
NM_016239.4(MYO15A):c.5886C>A (p.Tyr1962Ter) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 3 [RCV003229554] |
Chr17:18142816 [GRCh38] Chr17:18046130 [GRCh37] Chr17:17p11.2 |
likely pathogenic |
NM_016239.4(MYO15A):c.1099C>T (p.Pro367Ser) |
single nucleotide variant |
not provided [RCV003228322] |
Chr17:18119899 [GRCh38] Chr17:18023213 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.2413C>T (p.Pro805Ser) |
single nucleotide variant |
not provided [RCV003227245] |
Chr17:18121213 [GRCh38] Chr17:18024527 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.9590G>T (p.Ser3197Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV003309026] |
Chr17:18162657 [GRCh38] Chr17:18065971 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.2855G>T (p.Gly952Val) |
single nucleotide variant |
not provided [RCV003321304] |
Chr17:18121655 [GRCh38] Chr17:18024969 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.8538C>T (p.Leu2846=) |
single nucleotide variant |
not provided [RCV003872503] |
Chr17:18156273 [GRCh38] Chr17:18059587 [GRCh37] Chr17:17p11.2 |
likely benign |
NM_016239.4(MYO15A):c.9424G>A (p.Val3142Met) |
single nucleotide variant |
Inborn genetic diseases [RCV003284899] |
Chr17:18161354 [GRCh38] Chr17:18064668 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.1898C>A (p.Pro633Gln) |
single nucleotide variant |
Inborn genetic diseases [RCV003263743] |
Chr17:18120698 [GRCh38] Chr17:18024012 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.10453G>A (p.Val3485Met) |
single nucleotide variant |
not provided [RCV003325835] |
Chr17:18173883 [GRCh38] Chr17:18077197 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.725G>A (p.Gly242Asp) |
single nucleotide variant |
not provided [RCV003329777] |
Chr17:18119525 [GRCh38] Chr17:18022839 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.5831G>A (p.Arg1944His) |
single nucleotide variant |
not provided [RCV003326961] |
Chr17:18142761 [GRCh38] Chr17:18046075 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.5529C>A (p.Asp1843Glu) |
single nucleotide variant |
not provided [RCV003325707] |
Chr17:18141141 [GRCh38] Chr17:18044455 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.9103T>C (p.Ser3035Pro) |
single nucleotide variant |
not provided [RCV003328793] |
Chr17:18158944 [GRCh38] Chr17:18062258 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.9983G>C (p.Ser3328Thr) |
single nucleotide variant |
not provided [RCV003329039] |
Chr17:18167624 [GRCh38] Chr17:18070938 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.9995G>C (p.Ser3332Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV003356638] |
Chr17:18167636 [GRCh38] Chr17:18070950 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.7705T>C (p.Phe2569Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV003342549] |
Chr17:18151445 [GRCh38] Chr17:18054759 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.7546G>A (p.Ala2516Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV003357295] |
Chr17:18151182 [GRCh38] Chr17:18054496 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.7990C>G (p.Pro2664Ala) |
single nucleotide variant |
Inborn genetic diseases [RCV003343147] |
Chr17:18153798 [GRCh38] Chr17:18057112 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.6109C>G (p.Pro2037Ala) |
single nucleotide variant |
Inborn genetic diseases [RCV003345951] |
Chr17:18143932 [GRCh38] Chr17:18047246 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.1318G>C (p.Asp440His) |
single nucleotide variant |
Inborn genetic diseases [RCV003385904] |
Chr17:18120118 [GRCh38] Chr17:18023432 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.1022A>G (p.Tyr341Cys) |
single nucleotide variant |
Inborn genetic diseases [RCV003349633] |
Chr17:18119822 [GRCh38] Chr17:18023136 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.5747T>G (p.Phe1916Cys) |
single nucleotide variant |
Inborn genetic diseases [RCV003351025] |
Chr17:18142176 [GRCh38] Chr17:18045490 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.2246G>A (p.Arg749His) |
single nucleotide variant |
Inborn genetic diseases [RCV003386513] |
Chr17:18121046 [GRCh38] Chr17:18024360 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.8513A>C (p.Asn2838Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV003353455]|not provided [RCV003443208] |
Chr17:18156248 [GRCh38] Chr17:18059562 [GRCh37] Chr17:17p11.2 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_016239.4(MYO15A):c.2348C>T (p.Ser783Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV003374597] |
Chr17:18121148 [GRCh38] Chr17:18024462 [GRCh37] Chr17:17p11.2 |
likely benign |
NM_016239.4(MYO15A):c.394A>C (p.Thr132Pro) |
single nucleotide variant |
Inborn genetic diseases [RCV003374716] |
Chr17:18119194 [GRCh38] Chr17:18022508 [GRCh37] Chr17:17p11.2 |
likely benign|uncertain significance |
NM_016239.4(MYO15A):c.9390C>G (p.Asp3130Glu) |
single nucleotide variant |
Inborn genetic diseases [RCV003385249] |
Chr17:18161320 [GRCh38] Chr17:18064634 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.7619C>T (p.Pro2540Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV003371318] |
Chr17:18151255 [GRCh38] Chr17:18054569 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.9500C>A (p.Pro3167Gln) |
single nucleotide variant |
Inborn genetic diseases [RCV003351472] |
Chr17:18161430 [GRCh38] Chr17:18064744 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.6076G>A (p.Ala2026Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV003355152] |
Chr17:18143899 [GRCh38] Chr17:18047213 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.6093_6100del (p.Arg2032fs) |
deletion |
not provided [RCV003543680] |
Chr17:18143910..18143917 [GRCh38] Chr17:18047224..18047231 [GRCh37] Chr17:17p11.2 |
pathogenic |
NM_016239.4(MYO15A):c.7770C>G (p.Gly2590=) |
single nucleotide variant |
not provided [RCV003874469] |
Chr17:18151510 [GRCh38] Chr17:18054824 [GRCh37] Chr17:17p11.2 |
likely benign |
NM_016239.4(MYO15A):c.4207-20C>A |
single nucleotide variant |
not provided [RCV003570788] |
Chr17:18132433 [GRCh38] Chr17:18035747 [GRCh37] Chr17:17p11.2 |
likely benign |
NM_016239.4(MYO15A):c.3761_3764dup (p.Gly1256fs) |
microsatellite |
not provided [RCV003569987] |
Chr17:18126346..18126347 [GRCh38] Chr17:18029660..18029661 [GRCh37] Chr17:17p11.2 |
pathogenic |
NM_016239.4(MYO15A):c.9733C>T (p.Leu3245=) |
single nucleotide variant |
not provided [RCV003873088] |
Chr17:18163784 [GRCh38] Chr17:18067098 [GRCh37] Chr17:17p11.2 |
likely benign |
NM_016239.4(MYO15A):c.3610-9C>G |
single nucleotide variant |
not provided [RCV003569400] |
Chr17:18124474 [GRCh38] Chr17:18027788 [GRCh37] Chr17:17p11.2 |
likely benign |
NM_016239.4(MYO15A):c.6708C>T (p.Cys2236=) |
single nucleotide variant |
not provided [RCV003571105] |
Chr17:18148512 [GRCh38] Chr17:18051826 [GRCh37] Chr17:17p11.2 |
likely benign |
NM_016239.4(MYO15A):c.1564del (p.Val522fs) |
deletion |
not provided [RCV003571219] |
Chr17:18120363 [GRCh38] Chr17:18023677 [GRCh37] Chr17:17p11.2 |
pathogenic |
NM_016239.4(MYO15A):c.9882G>A (p.Arg3294=) |
single nucleotide variant |
not provided [RCV003875239] |
Chr17:18166455 [GRCh38] Chr17:18069769 [GRCh37] Chr17:17p11.2 |
likely benign |
NM_016239.4(MYO15A):c.7967-1G>C |
single nucleotide variant |
not provided [RCV003571322] |
Chr17:18153774 [GRCh38] Chr17:18057088 [GRCh37] Chr17:17p11.2 |
pathogenic |
NM_016239.4(MYO15A):c.7473+18A>G |
single nucleotide variant |
not provided [RCV003686333] |
Chr17:18150931 [GRCh38] Chr17:18054245 [GRCh37] Chr17:17p11.2 |
likely benign |
NM_016239.4(MYO15A):c.6081T>A (p.Pro2027=) |
single nucleotide variant |
not provided [RCV003712530] |
Chr17:18143904 [GRCh38] Chr17:18047218 [GRCh37] Chr17:17p11.2 |
likely benign |
NM_016239.4(MYO15A):c.2778C>G (p.Ala926=) |
single nucleotide variant |
not provided [RCV003570478] |
Chr17:18121578 [GRCh38] Chr17:18024892 [GRCh37] Chr17:17p11.2 |
likely benign |
NM_016239.4(MYO15A):c.2733A>G (p.Arg911=) |
single nucleotide variant |
not provided [RCV003543369] |
Chr17:18121533 [GRCh38] Chr17:18024847 [GRCh37] Chr17:17p11.2 |
likely benign |
NM_016239.4(MYO15A):c.9673A>G (p.Lys3225Glu) |
single nucleotide variant |
not provided [RCV003543762] |
Chr17:18163304 [GRCh38] Chr17:18066618 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.1011C>T (p.His337=) |
single nucleotide variant |
not provided [RCV003873475] |
Chr17:18119811 [GRCh38] Chr17:18023125 [GRCh37] Chr17:17p11.2 |
likely benign |
NM_016239.4(MYO15A):c.7893+9G>A |
single nucleotide variant |
not provided [RCV003569832] |
Chr17:18151960 [GRCh38] Chr17:18055274 [GRCh37] Chr17:17p11.2 |
likely benign |
NM_016239.4(MYO15A):c.8602-8T>C |
single nucleotide variant |
not provided [RCV003570366] |
Chr17:18156946 [GRCh38] Chr17:18060260 [GRCh37] Chr17:17p11.2 |
likely benign |
NM_016239.4(MYO15A):c.8967+19G>A |
single nucleotide variant |
not provided [RCV003570294] |
Chr17:18157919 [GRCh38] Chr17:18061233 [GRCh37] Chr17:17p11.2 |
likely benign |
NM_016239.4(MYO15A):c.1938G>A (p.Ala646=) |
single nucleotide variant |
not provided [RCV003571163] |
Chr17:18120738 [GRCh38] Chr17:18024052 [GRCh37] Chr17:17p11.2 |
likely benign |
NM_016239.4(MYO15A):c.2475C>A (p.Ala825=) |
single nucleotide variant |
not provided [RCV003571165] |
Chr17:18121275 [GRCh38] Chr17:18024589 [GRCh37] Chr17:17p11.2 |
likely benign |
NM_016239.4(MYO15A):c.3140_3141del (p.Pro1047fs) |
deletion |
not provided [RCV003571296] |
Chr17:18121936..18121937 [GRCh38] Chr17:18025250..18025251 [GRCh37] Chr17:17p11.2 |
pathogenic |
NM_016239.4(MYO15A):c.3693-12G>C |
single nucleotide variant |
not provided [RCV003571469] |
Chr17:18125156 [GRCh38] Chr17:18028470 [GRCh37] Chr17:17p11.2 |
likely benign |
NM_016239.4(MYO15A):c.2358C>T (p.Leu786=) |
single nucleotide variant |
not provided [RCV003712433] |
Chr17:18121158 [GRCh38] Chr17:18024472 [GRCh37] Chr17:17p11.2 |
likely benign |
NM_016239.4(MYO15A):c.7976C>A (p.Ser2659Ter) |
single nucleotide variant |
not provided [RCV003571817] |
Chr17:18153784 [GRCh38] Chr17:18057098 [GRCh37] Chr17:17p11.2 |
pathogenic |
NM_016239.4(MYO15A):c.8149-17A>T |
single nucleotide variant |
not provided [RCV003569950] |
Chr17:18154663 [GRCh38] Chr17:18057977 [GRCh37] Chr17:17p11.2 |
likely benign |
NM_016239.4(MYO15A):c.7327+19T>G |
single nucleotide variant |
not provided [RCV003686254] |
Chr17:18150562 [GRCh38] Chr17:18053876 [GRCh37] Chr17:17p11.2 |
likely benign |
NM_016239.4(MYO15A):c.2334C>T (p.Pro778=) |
single nucleotide variant |
not provided [RCV003570807] |
Chr17:18121134 [GRCh38] Chr17:18024448 [GRCh37] Chr17:17p11.2 |
likely benign |
GRCh37/hg19 17p12-11.2(chr17:15694772-20582794)x1 |
copy number loss |
not provided [RCV003483314] |
Chr17:15694772..20582794 [GRCh37] Chr17:17p12-11.2 |
pathogenic |
NM_016239.4(MYO15A):c.8788+11C>T |
single nucleotide variant |
not provided [RCV003570878] |
Chr17:18157241 [GRCh38] Chr17:18060555 [GRCh37] Chr17:17p11.2 |
likely benign |
NM_016239.4(MYO15A):c.1257G>A (p.Pro419=) |
single nucleotide variant |
not provided [RCV003570602] |
Chr17:18120057 [GRCh38] Chr17:18023371 [GRCh37] Chr17:17p11.2 |
likely benign |
NM_016239.4(MYO15A):c.3193C>T (p.Leu1065=) |
single nucleotide variant |
not provided [RCV003570924] |
Chr17:18121993 [GRCh38] Chr17:18025307 [GRCh37] Chr17:17p11.2 |
likely benign |
NM_016239.4(MYO15A):c.6339C>T (p.Ile2113=) |
single nucleotide variant |
not provided [RCV003875354] |
Chr17:18145937 [GRCh38] Chr17:18049251 [GRCh37] Chr17:17p11.2 |
likely benign |
NM_016239.4(MYO15A):c.4207-18C>G |
single nucleotide variant |
not provided [RCV003570934] |
Chr17:18132435 [GRCh38] Chr17:18035749 [GRCh37] Chr17:17p11.2 |
likely benign |
NM_016239.4(MYO15A):c.6957-1G>A |
single nucleotide variant |
not provided [RCV003571642] |
Chr17:18149215 [GRCh38] Chr17:18052529 [GRCh37] Chr17:17p11.2 |
likely pathogenic |
NM_016239.4(MYO15A):c.2502C>A (p.Gly834=) |
single nucleotide variant |
not provided [RCV003686097] |
Chr17:18121302 [GRCh38] Chr17:18024616 [GRCh37] Chr17:17p11.2 |
likely benign |
NM_016239.4(MYO15A):c.5136G>T (p.Val1712=) |
single nucleotide variant |
not provided [RCV003712565] |
Chr17:18139536 [GRCh38] Chr17:18042850 [GRCh37] Chr17:17p11.2 |
likely benign |
NM_016239.4(MYO15A):c.9864C>T (p.Gly3288=) |
single nucleotide variant |
not provided [RCV003570754] |
Chr17:18166437 [GRCh38] Chr17:18069751 [GRCh37] Chr17:17p11.2 |
likely benign |
NM_016239.4(MYO15A):c.4039-2A>G |
single nucleotide variant |
not provided [RCV003571012] |
Chr17:18131237 [GRCh38] Chr17:18034551 [GRCh37] Chr17:17p11.2 |
likely pathogenic |
NM_016239.4(MYO15A):c.1692C>G (p.Pro564=) |
single nucleotide variant |
not provided [RCV003571583] |
Chr17:18120492 [GRCh38] Chr17:18023806 [GRCh37] Chr17:17p11.2 |
likely benign |
NM_016239.4(MYO15A):c.7061del (p.Asn2354fs) |
deletion |
not provided [RCV003686191] |
Chr17:18149319 [GRCh38] Chr17:18052633 [GRCh37] Chr17:17p11.2 |
pathogenic |
NM_016239.4(MYO15A):c.2007C>A (p.Pro669=) |
single nucleotide variant |
not provided [RCV003686326] |
Chr17:18120807 [GRCh38] Chr17:18024121 [GRCh37] Chr17:17p11.2 |
likely benign |
NM_016239.4(MYO15A):c.5406+10A>G |
single nucleotide variant |
not provided [RCV003543570] |
Chr17:18140842 [GRCh38] Chr17:18044156 [GRCh37] Chr17:17p11.2 |
likely benign |
NM_016239.4(MYO15A):c.5911-18A>T |
single nucleotide variant |
not provided [RCV003543571] |
Chr17:18143548 [GRCh38] Chr17:18046862 [GRCh37] Chr17:17p11.2 |
likely benign |
NM_016239.4(MYO15A):c.6668C>G (p.Ala2223Gly) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 3 [RCV003494509] |
Chr17:18148187 [GRCh38] Chr17:18051501 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.4320+7G>A |
single nucleotide variant |
not provided [RCV003872642] |
Chr17:18132573 [GRCh38] Chr17:18035887 [GRCh37] Chr17:17p11.2 |
likely benign |
NM_016239.4(MYO15A):c.7966+16G>A |
single nucleotide variant |
not provided [RCV003712607] |
Chr17:18152200 [GRCh38] Chr17:18055514 [GRCh37] Chr17:17p11.2 |
likely benign |
NM_016239.4(MYO15A):c.6514del (p.Val2172fs) |
deletion |
not provided [RCV003569193] |
Chr17:18148033 [GRCh38] Chr17:18051347 [GRCh37] Chr17:17p11.2 |
pathogenic |
NM_016239.4(MYO15A):c.2902C>T (p.Leu968=) |
single nucleotide variant |
not provided [RCV003872934] |
Chr17:18121702 [GRCh38] Chr17:18025016 [GRCh37] Chr17:17p11.2 |
likely benign |
NM_016239.4(MYO15A):c.6367C>T (p.Leu2123=) |
single nucleotide variant |
not provided [RCV003872953] |
Chr17:18145965 [GRCh38] Chr17:18049279 [GRCh37] Chr17:17p11.2 |
likely benign |
NM_016239.4(MYO15A):c.6692-18G>T |
single nucleotide variant |
not provided [RCV003569777] |
Chr17:18148478 [GRCh38] Chr17:18051792 [GRCh37] Chr17:17p11.2 |
likely benign |
NM_016239.4(MYO15A):c.232dup (p.Thr78fs) |
duplication |
not provided [RCV003570018] |
Chr17:18119031..18119032 [GRCh38] Chr17:18022345..18022346 [GRCh37] Chr17:17p11.2 |
pathogenic |
NM_016239.4(MYO15A):c.9084-19C>T |
single nucleotide variant |
not provided [RCV003571790] |
Chr17:18158906 [GRCh38] Chr17:18062220 [GRCh37] Chr17:17p11.2 |
likely benign |
NM_016239.4(MYO15A):c.9756T>C (p.Asn3252=) |
single nucleotide variant |
not provided [RCV003569498] |
Chr17:18163807 [GRCh38] Chr17:18067121 [GRCh37] Chr17:17p11.2 |
likely benign |
GRCh37/hg19 17p11.2(chr17:16651293-20450566)x1 |
copy number loss |
not provided [RCV003483315] |
Chr17:16651293..20450566 [GRCh37] Chr17:17p11.2 |
pathogenic |
Single allele |
duplication |
not provided [RCV003448668] |
Chr17:16757513..18772328 [GRCh37] Chr17:17p11.2 |
pathogenic |
NM_016239.4(MYO15A):c.749C>G (p.Ser250Ter) |
single nucleotide variant |
not provided [RCV003569047] |
Chr17:18119549 [GRCh38] Chr17:18022863 [GRCh37] Chr17:17p11.2 |
pathogenic |
NM_016239.4(MYO15A):c.2088C>T (p.Ser696=) |
single nucleotide variant |
not provided [RCV003872604] |
Chr17:18120888 [GRCh38] Chr17:18024202 [GRCh37] Chr17:17p11.2 |
likely benign |
NM_016239.4(MYO15A):c.6708C>A (p.Cys2236Ter) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 3 [RCV003484515] |
Chr17:18148512 [GRCh38] Chr17:18051826 [GRCh37] Chr17:17p11.2 |
pathogenic |
NM_016239.4(MYO15A):c.343del (p.Arg115fs) |
deletion |
Autosomal recessive nonsyndromic hearing loss 3 [RCV003484514] |
Chr17:18119142 [GRCh38] Chr17:18022456 [GRCh37] Chr17:17p11.2 |
pathogenic |
NM_016239.4(MYO15A):c.5424G>A (p.Glu1808=) |
single nucleotide variant |
not provided [RCV003428176] |
Chr17:18141036 [GRCh38] Chr17:18044350 [GRCh37] Chr17:17p11.2 |
likely benign |
NM_016239.4(MYO15A):c.151G>A (p.Gly51Ser) |
single nucleotide variant |
not provided [RCV003441264] |
Chr17:18118951 [GRCh38] Chr17:18022265 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.1581C>T (p.Tyr527=) |
single nucleotide variant |
not provided [RCV003428175] |
Chr17:18120381 [GRCh38] Chr17:18023695 [GRCh37] Chr17:17p11.2 |
likely benign |
NM_016239.4(MYO15A):c.9612+1G>A |
single nucleotide variant |
MYO15A-related condition [RCV003406217] |
Chr17:18162680 [GRCh38] Chr17:18065994 [GRCh37] Chr17:17p11.2 |
likely pathogenic |
NM_016239.4(MYO15A):c.8371G>A (p.Ala2791Thr) |
single nucleotide variant |
not provided [RCV003480233] |
Chr17:18155344 [GRCh38] Chr17:18058658 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.9341dup (p.Tyr3114Ter) |
duplication |
Autosomal recessive nonsyndromic hearing loss 3 [RCV003388787] |
Chr17:18159971..18159972 [GRCh38] Chr17:18063285..18063286 [GRCh37] Chr17:17p11.2 |
likely pathogenic |
NM_016239.4(MYO15A):c.484_488delinsACTT (p.Arg162fs) |
indel |
MYO15A-related condition [RCV003408510]|not provided [RCV003481499] |
Chr17:18119284..18119288 [GRCh38] Chr17:18022598..18022602 [GRCh37] Chr17:17p11.2 |
likely pathogenic |
NM_016239.4(MYO15A):c.4520G>A (p.Arg1507Gln) |
single nucleotide variant |
not provided [RCV003441347] |
Chr17:18135748 [GRCh38] Chr17:18039062 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.5945C>T (p.Ala1982Val) |
single nucleotide variant |
not provided [RCV003441454] |
Chr17:18143600 [GRCh38] Chr17:18046914 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.10192C>T (p.His3398Tyr) |
single nucleotide variant |
MYO15A-related condition [RCV003414231] |
Chr17:18171747 [GRCh38] Chr17:18075061 [GRCh37] Chr17:17p11.2 |
likely benign|uncertain significance |
NM_016239.4(MYO15A):c.1529C>A (p.Ala510Glu) |
single nucleotide variant |
not provided [RCV003413163] |
Chr17:18120329 [GRCh38] Chr17:18023643 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.3840C>T (p.Asn1280=) |
single nucleotide variant |
not provided [RCV003413164] |
Chr17:18126430 [GRCh38] Chr17:18029744 [GRCh37] Chr17:17p11.2 |
likely benign |
NM_016239.4(MYO15A):c.4423dup (p.Ile1475fs) |
duplication |
not provided [RCV003413165] |
Chr17:18133326..18133327 [GRCh38] Chr17:18036640..18036641 [GRCh37] Chr17:17p11.2 |
pathogenic |
NM_016239.4(MYO15A):c.8319C>T (p.Phe2773=) |
single nucleotide variant |
not provided [RCV003413166] |
Chr17:18155204 [GRCh38] Chr17:18058518 [GRCh37] Chr17:17p11.2 |
likely benign |
NM_016239.4(MYO15A):c.879C>G (p.Asp293Glu) |
single nucleotide variant |
not provided [RCV003442556] |
Chr17:18119679 [GRCh38] Chr17:18022993 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.374G>A (p.Arg125Gln) |
single nucleotide variant |
not provided [RCV003428174] |
Chr17:18119174 [GRCh38] Chr17:18022488 [GRCh37] Chr17:17p11.2 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_016239.4(MYO15A):c.9107A>G (p.Lys3036Arg) |
single nucleotide variant |
MYO15A-related condition [RCV003420834] |
Chr17:18158948 [GRCh38] Chr17:18062262 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.2046G>C (p.Pro682=) |
single nucleotide variant |
not provided [RCV003572361] |
Chr17:18120846 [GRCh38] Chr17:18024160 [GRCh37] Chr17:17p11.2 |
likely benign |
NM_016239.4(MYO15A):c.2526C>A (p.Gly842=) |
single nucleotide variant |
not provided [RCV003659906] |
Chr17:18121326 [GRCh38] Chr17:18024640 [GRCh37] Chr17:17p11.2 |
likely benign |
NM_016239.4(MYO15A):c.9304-10C>G |
single nucleotide variant |
not provided [RCV003573750] |
Chr17:18159925 [GRCh38] Chr17:18063239 [GRCh37] Chr17:17p11.2 |
likely benign |
NM_016239.4(MYO15A):c.8089-10G>A |
single nucleotide variant |
not provided [RCV003544541] |
Chr17:18154121 [GRCh38] Chr17:18057435 [GRCh37] Chr17:17p11.2 |
likely benign |
NM_016239.4(MYO15A):c.5667C>T (p.His1889=) |
single nucleotide variant |
not provided [RCV003687110] |
Chr17:18142096 [GRCh38] Chr17:18045410 [GRCh37] Chr17:17p11.2 |
likely benign |
NM_016239.4(MYO15A):c.1977G>A (p.Ala659=) |
single nucleotide variant |
not provided [RCV003661565] |
Chr17:18120777 [GRCh38] Chr17:18024091 [GRCh37] Chr17:17p11.2 |
likely benign |
NM_016239.4(MYO15A):c.3692+17G>T |
single nucleotide variant |
not provided [RCV003687113] |
Chr17:18124582 [GRCh38] Chr17:18027896 [GRCh37] Chr17:17p11.2 |
likely benign |
NM_016239.4(MYO15A):c.6156G>A (p.Lys2052=) |
single nucleotide variant |
not provided [RCV003663098] |
Chr17:18143979 [GRCh38] Chr17:18047293 [GRCh37] Chr17:17p11.2 |
likely benign |
NM_016239.4(MYO15A):c.5910+13C>T |
single nucleotide variant |
not provided [RCV003824581] |
Chr17:18142853 [GRCh38] Chr17:18046167 [GRCh37] Chr17:17p11.2 |
likely benign |
NM_016239.4(MYO15A):c.5838del (p.Gln1946fs) |
deletion |
not provided [RCV003662038] |
Chr17:18142768 [GRCh38] Chr17:18046082 [GRCh37] Chr17:17p11.2 |
pathogenic |
NM_016239.4(MYO15A):c.2461C>T (p.Gln821Ter) |
single nucleotide variant |
not provided [RCV003824750] |
Chr17:18121261 [GRCh38] Chr17:18024575 [GRCh37] Chr17:17p11.2 |
pathogenic |
NM_016239.4(MYO15A):c.9303+14A>G |
single nucleotide variant |
not provided [RCV003573085] |
Chr17:18159693 [GRCh38] Chr17:18063007 [GRCh37] Chr17:17p11.2 |
likely benign |
NM_016239.4(MYO15A):c.1578_1585del (p.Tyr527fs) |
deletion |
not provided [RCV003574629] |
Chr17:18120375..18120382 [GRCh38] Chr17:18023689..18023696 [GRCh37] Chr17:17p11.2 |
pathogenic |
NM_016239.4(MYO15A):c.3912T>C (p.Asp1304=) |
single nucleotide variant |
not provided [RCV003543862] |
Chr17:18126836 [GRCh38] Chr17:18030150 [GRCh37] Chr17:17p11.2 |
likely benign |
NM_016239.4(MYO15A):c.4320+1G>C |
single nucleotide variant |
not provided [RCV003572114] |
Chr17:18132567 [GRCh38] Chr17:18035881 [GRCh37] Chr17:17p11.2 |
pathogenic |
NM_016239.4(MYO15A):c.9915G>A (p.Glu3305=) |
single nucleotide variant |
not provided [RCV003575954] |
Chr17:18166488 [GRCh38] Chr17:18069802 [GRCh37] Chr17:17p11.2 |
likely benign |
NM_016239.4(MYO15A):c.5673C>T (p.Tyr1891=) |
single nucleotide variant |
not provided [RCV003572101] |
Chr17:18142102 [GRCh38] Chr17:18045416 [GRCh37] Chr17:17p11.2 |
likely benign |
NM_016239.4(MYO15A):c.300G>A (p.Lys100=) |
single nucleotide variant |
not provided [RCV003714255] |
Chr17:18119100 [GRCh38] Chr17:18022414 [GRCh37] Chr17:17p11.2 |
likely benign |
NM_016239.4(MYO15A):c.438C>A (p.Ala146=) |
single nucleotide variant |
not provided [RCV003714266] |
Chr17:18119238 [GRCh38] Chr17:18022552 [GRCh37] Chr17:17p11.2 |
likely benign |
NM_016239.4(MYO15A):c.10326C>T (p.Leu3442=) |
single nucleotide variant |
not provided [RCV003661152] |
Chr17:18172266 [GRCh38] Chr17:18075580 [GRCh37] Chr17:17p11.2 |
likely benign |
NM_016239.4(MYO15A):c.4780-20C>T |
single nucleotide variant |
not provided [RCV003662453] |
Chr17:18137564 [GRCh38] Chr17:18040878 [GRCh37] Chr17:17p11.2 |
likely benign |
NM_016239.4(MYO15A):c.7704C>T (p.His2568=) |
single nucleotide variant |
not provided [RCV003659758] |
Chr17:18151444 [GRCh38] Chr17:18054758 [GRCh37] Chr17:17p11.2 |
likely benign |
NM_016239.4(MYO15A):c.9564C>T (p.Phe3188=) |
single nucleotide variant |
not provided [RCV003545473] |
Chr17:18162631 [GRCh38] Chr17:18065945 [GRCh37] Chr17:17p11.2 |
likely benign |
NM_016239.4(MYO15A):c.9597G>A (p.Glu3199=) |
single nucleotide variant |
not provided [RCV003715000] |
Chr17:18162664 [GRCh38] Chr17:18065978 [GRCh37] Chr17:17p11.2 |
likely benign |
NM_016239.4(MYO15A):c.10272C>T (p.Cys3424=) |
single nucleotide variant |
not provided [RCV003547563] |
Chr17:18172212 [GRCh38] Chr17:18075526 [GRCh37] Chr17:17p11.2 |
likely benign |
NM_016239.4(MYO15A):c.33C>G (p.Ala11=) |
single nucleotide variant |
not provided [RCV003573716] |
Chr17:18118833 [GRCh38] Chr17:18022147 [GRCh37] Chr17:17p11.2 |
likely benign |
NM_016239.4(MYO15A):c.7500G>A (p.Pro2500=) |
single nucleotide variant |
not provided [RCV003715087] |
Chr17:18151136 [GRCh38] Chr17:18054450 [GRCh37] Chr17:17p11.2 |
likely benign |
NM_016239.4(MYO15A):c.507C>G (p.Ser169=) |
single nucleotide variant |
not provided [RCV003659851] |
Chr17:18119307 [GRCh38] Chr17:18022621 [GRCh37] Chr17:17p11.2 |
likely benign |
NM_016239.4(MYO15A):c.9183A>G (p.Glu3061=) |
single nucleotide variant |
not provided [RCV003713077] |
Chr17:18159301 [GRCh38] Chr17:18062615 [GRCh37] Chr17:17p11.2 |
likely benign |
NM_016239.4(MYO15A):c.5787C>A (p.Ile1929=) |
single nucleotide variant |
not provided [RCV003824682] |
Chr17:18142216 [GRCh38] Chr17:18045530 [GRCh37] Chr17:17p11.2 |
likely benign |
NM_016239.4(MYO15A):c.9534C>T (p.Cys3178=) |
single nucleotide variant |
not provided [RCV003545015] |
Chr17:18162601 [GRCh38] Chr17:18065915 [GRCh37] Chr17:17p11.2 |
likely benign |
NM_016239.4(MYO15A):c.5649+1_5649+3del |
deletion |
not provided [RCV003573176] |
Chr17:18141770..18141772 [GRCh38] Chr17:18045084..18045086 [GRCh37] Chr17:17p11.2 |
likely pathogenic |
NM_016239.4(MYO15A):c.6573C>T (p.Ala2191=) |
single nucleotide variant |
not provided [RCV003573137] |
Chr17:18148092 [GRCh38] Chr17:18051406 [GRCh37] Chr17:17p11.2 |
likely benign |
NM_016239.4(MYO15A):c.4864C>T (p.Gln1622Ter) |
single nucleotide variant |
not provided [RCV003689205] |
Chr17:18137668 [GRCh38] Chr17:18040982 [GRCh37] Chr17:17p11.2 |
pathogenic |
NM_016239.4(MYO15A):c.1299C>G (p.Ala433=) |
single nucleotide variant |
not provided [RCV003663294] |
Chr17:18120099 [GRCh38] Chr17:18023413 [GRCh37] Chr17:17p11.2 |
likely benign |
NM_016239.4(MYO15A):c.9083+14C>G |
single nucleotide variant |
not provided [RCV003686988] |
Chr17:18158652 [GRCh38] Chr17:18061966 [GRCh37] Chr17:17p11.2 |
likely benign |
NM_016239.4(MYO15A):c.9083+18C>A |
single nucleotide variant |
not provided [RCV003546390] |
Chr17:18158656 [GRCh38] Chr17:18061970 [GRCh37] Chr17:17p11.2 |
likely benign |
NM_016239.4(MYO15A):c.3207C>T (p.Asp1069=) |
single nucleotide variant |
not provided [RCV003689146] |
Chr17:18122007 [GRCh38] Chr17:18025321 [GRCh37] Chr17:17p11.2 |
likely benign |
NM_016239.4(MYO15A):c.7788-11A>C |
single nucleotide variant |
not provided [RCV003575301] |
Chr17:18151835 [GRCh38] Chr17:18055149 [GRCh37] Chr17:17p11.2 |
likely benign |
NM_016239.4(MYO15A):c.2403G>A (p.Leu801=) |
single nucleotide variant |
not provided [RCV003660687] |
Chr17:18121203 [GRCh38] Chr17:18024517 [GRCh37] Chr17:17p11.2 |
likely benign |
NM_016239.4(MYO15A):c.10350+19G>A |
single nucleotide variant |
not provided [RCV003573198] |
Chr17:18172309 [GRCh38] Chr17:18075623 [GRCh37] Chr17:17p11.2 |
likely benign |
NM_016239.4(MYO15A):c.756C>T (p.His252=) |
single nucleotide variant |
not provided [RCV003547321] |
Chr17:18119556 [GRCh38] Chr17:18022870 [GRCh37] Chr17:17p11.2 |
likely benign |
NM_016239.4(MYO15A):c.4422C>T (p.Ser1474=) |
single nucleotide variant |
not provided [RCV003547787] |
Chr17:18133326 [GRCh38] Chr17:18036640 [GRCh37] Chr17:17p11.2 |
likely benign |
NM_016239.4(MYO15A):c.8968-12C>T |
single nucleotide variant |
not provided [RCV003545911] |
Chr17:18158511 [GRCh38] Chr17:18061825 [GRCh37] Chr17:17p11.2 |
likely benign |
NM_016239.4(MYO15A):c.27G>A (p.Lys9=) |
single nucleotide variant |
not provided [RCV003877948] |
Chr17:18118827 [GRCh38] Chr17:18022141 [GRCh37] Chr17:17p11.2 |
likely benign |
NM_016239.4(MYO15A):c.2874T>C (p.Pro958=) |
single nucleotide variant |
not provided [RCV003544578] |
Chr17:18121674 [GRCh38] Chr17:18024988 [GRCh37] Chr17:17p11.2 |
likely benign |
NM_016239.4(MYO15A):c.6046+12C>G |
single nucleotide variant |
not provided [RCV003688549] |
Chr17:18143808 [GRCh38] Chr17:18047122 [GRCh37] Chr17:17p11.2 |
likely benign |
NM_016239.4(MYO15A):c.6880A>C (p.Arg2294=) |
single nucleotide variant |
not provided [RCV003547904] |
Chr17:18148876 [GRCh38] Chr17:18052190 [GRCh37] Chr17:17p11.2 |
likely benign |
NM_016239.4(MYO15A):c.2007C>G (p.Pro669=) |
single nucleotide variant |
not provided [RCV003686416] |
Chr17:18120807 [GRCh38] Chr17:18024121 [GRCh37] Chr17:17p11.2 |
likely benign |
NM_016239.4(MYO15A):c.1386C>T (p.Gly462=) |
single nucleotide variant |
not provided [RCV003714096] |
Chr17:18120186 [GRCh38] Chr17:18023500 [GRCh37] Chr17:17p11.2 |
likely benign |
NM_016239.4(MYO15A):c.3866+11C>T |
single nucleotide variant |
not provided [RCV003877275] |
Chr17:18126467 [GRCh38] Chr17:18029781 [GRCh37] Chr17:17p11.2 |
likely benign |
NM_016239.4(MYO15A):c.9157-1G>A |
single nucleotide variant |
not provided [RCV003689975] |
Chr17:18159274 [GRCh38] Chr17:18062588 [GRCh37] Chr17:17p11.2 |
likely pathogenic |
NM_016239.4(MYO15A):c.7992C>T (p.Pro2664=) |
single nucleotide variant |
not provided [RCV003660277] |
Chr17:18153800 [GRCh38] Chr17:18057114 [GRCh37] Chr17:17p11.2 |
likely benign |
NM_016239.4(MYO15A):c.2052C>A (p.Leu684=) |
single nucleotide variant |
not provided [RCV003663514] |
Chr17:18120852 [GRCh38] Chr17:18024166 [GRCh37] Chr17:17p11.2 |
likely benign |
NM_016239.4(MYO15A):c.3941+8G>A |
single nucleotide variant |
not provided [RCV003713032] |
Chr17:18126873 [GRCh38] Chr17:18030187 [GRCh37] Chr17:17p11.2 |
likely benign |
NM_016239.4(MYO15A):c.4038+8GT[14] |
microsatellite |
not provided [RCV003545875] |
Chr17:18130818..18130843 [GRCh38] Chr17:18034132..18034157 [GRCh37] Chr17:17p11.2 |
likely benign |
NM_016239.4(MYO15A):c.7516G>A (p.Gly2506Ser) |
single nucleotide variant |
not provided [RCV003824794] |
Chr17:18151152 [GRCh38] Chr17:18054466 [GRCh37] Chr17:17p11.2 |
likely benign |
NM_016239.4(MYO15A):c.2274C>T (p.Pro758=) |
single nucleotide variant |
not provided [RCV003714714] |
Chr17:18121074 [GRCh38] Chr17:18024388 [GRCh37] Chr17:17p11.2 |
likely benign |
NM_016239.4(MYO15A):c.4039-16T>C |
single nucleotide variant |
not provided [RCV003574653] |
Chr17:18131223 [GRCh38] Chr17:18034537 [GRCh37] Chr17:17p11.2 |
likely benign |
NM_016239.4(MYO15A):c.9948+7A>C |
single nucleotide variant |
not provided [RCV003686986] |
Chr17:18166528 [GRCh38] Chr17:18069842 [GRCh37] Chr17:17p11.2 |
likely benign |
NM_016239.4(MYO15A):c.5406+18C>T |
single nucleotide variant |
not provided [RCV003661554] |
Chr17:18140850 [GRCh38] Chr17:18044164 [GRCh37] Chr17:17p11.2 |
likely benign |
NM_016239.4(MYO15A):c.8400G>A (p.Leu2800=) |
single nucleotide variant |
not provided [RCV003688523] |
Chr17:18155373 [GRCh38] Chr17:18058687 [GRCh37] Chr17:17p11.2 |
likely benign |
NM_016239.4(MYO15A):c.10137G>C (p.Ser3379=) |
single nucleotide variant |
not provided [RCV003878742] |
Chr17:18171692 [GRCh38] Chr17:18075006 [GRCh37] Chr17:17p11.2 |
likely benign |
NM_016239.4(MYO15A):c.8967+11T>C |
single nucleotide variant |
not provided [RCV003662364] |
Chr17:18157911 [GRCh38] Chr17:18061225 [GRCh37] Chr17:17p11.2 |
likely benign |
NM_016239.4(MYO15A):c.121del (p.Arg41fs) |
deletion |
not provided [RCV003824958] |
Chr17:18118920 [GRCh38] Chr17:18022234 [GRCh37] Chr17:17p11.2 |
pathogenic |
NM_016239.4(MYO15A):c.6456C>T (p.Ala2152=) |
single nucleotide variant |
not provided [RCV003713369] |
Chr17:18146054 [GRCh38] Chr17:18049368 [GRCh37] Chr17:17p11.2 |
likely benign |
NM_016239.4(MYO15A):c.6959dup (p.Phe2321fs) |
duplication |
not provided [RCV003545928] |
Chr17:18149217..18149218 [GRCh38] Chr17:18052531..18052532 [GRCh37] Chr17:17p11.2 |
pathogenic |
NM_016239.4(MYO15A):c.9678C>T (p.Ile3226=) |
single nucleotide variant |
not provided [RCV003716086] |
Chr17:18163309 [GRCh38] Chr17:18066623 [GRCh37] Chr17:17p11.2 |
likely benign |
NM_016239.4(MYO15A):c.2395C>T (p.Leu799=) |
single nucleotide variant |
not provided [RCV003659652] |
Chr17:18121195 [GRCh38] Chr17:18024509 [GRCh37] Chr17:17p11.2 |
likely benign |
NM_016239.4(MYO15A):c.9480C>G (p.Leu3160=) |
single nucleotide variant |
not provided [RCV003714953] |
Chr17:18161410 [GRCh38] Chr17:18064724 [GRCh37] Chr17:17p11.2 |
likely benign |
NM_016239.4(MYO15A):c.4662C>T (p.Ala1554=) |
single nucleotide variant |
not provided [RCV003878814] |
Chr17:18136569 [GRCh38] Chr17:18039883 [GRCh37] Chr17:17p11.2 |
likely benign |
NM_016239.4(MYO15A):c.7707C>T (p.Phe2569=) |
single nucleotide variant |
not provided [RCV003878822] |
Chr17:18151447 [GRCh38] Chr17:18054761 [GRCh37] Chr17:17p11.2 |
likely benign |
NM_016239.4(MYO15A):c.6957-2A>C |
single nucleotide variant |
not provided [RCV003663051] |
Chr17:18149214 [GRCh38] Chr17:18052528 [GRCh37] Chr17:17p11.2 |
likely pathogenic |
NM_016239.4(MYO15A):c.5427A>G (p.Pro1809=) |
single nucleotide variant |
not provided [RCV003712973] |
Chr17:18141039 [GRCh38] Chr17:18044353 [GRCh37] Chr17:17p11.2 |
likely benign |
NM_016239.4(MYO15A):c.2802T>G (p.Pro934=) |
single nucleotide variant |
not provided [RCV003662450] |
Chr17:18121602 [GRCh38] Chr17:18024916 [GRCh37] Chr17:17p11.2 |
likely benign |
NM_016239.4(MYO15A):c.5370C>T (p.Pro1790=) |
single nucleotide variant |
not provided [RCV003687948] |
Chr17:18140796 [GRCh38] Chr17:18044110 [GRCh37] Chr17:17p11.2 |
likely benign |
NM_016239.4(MYO15A):c.5360+18T>G |
single nucleotide variant |
not provided [RCV003715005] |
Chr17:18140683 [GRCh38] Chr17:18043997 [GRCh37] Chr17:17p11.2 |
likely benign |
NM_016239.4(MYO15A):c.2224C>T (p.Arg742Ter) |
single nucleotide variant |
not provided [RCV003544396] |
Chr17:18121024 [GRCh38] Chr17:18024338 [GRCh37] Chr17:17p11.2 |
pathogenic |
NM_016239.4(MYO15A):c.6645G>A (p.Ala2215=) |
single nucleotide variant |
not provided [RCV003713303] |
Chr17:18148164 [GRCh38] Chr17:18051478 [GRCh37] Chr17:17p11.2 |
likely benign |
NM_016239.4(MYO15A):c.1713G>A (p.Ser571=) |
single nucleotide variant |
not provided [RCV003876380] |
Chr17:18120513 [GRCh38] Chr17:18023827 [GRCh37] Chr17:17p11.2 |
likely benign |
NM_016239.4(MYO15A):c.666G>C (p.Ser222=) |
single nucleotide variant |
not provided [RCV003660062] |
Chr17:18119466 [GRCh38] Chr17:18022780 [GRCh37] Chr17:17p11.2 |
benign |
NM_016239.4(MYO15A):c.8968-8T>G |
single nucleotide variant |
not provided [RCV003544635] |
Chr17:18158515 [GRCh38] Chr17:18061829 [GRCh37] Chr17:17p11.2 |
likely benign |
NM_016239.4(MYO15A):c.6948C>A (p.Gly2316=) |
single nucleotide variant |
not provided [RCV003714409] |
Chr17:18148944 [GRCh38] Chr17:18052258 [GRCh37] Chr17:17p11.2 |
likely benign |
NM_016239.4(MYO15A):c.10452C>T (p.Asp3484=) |
single nucleotide variant |
not provided [RCV003878311] |
Chr17:18173882 [GRCh38] Chr17:18077196 [GRCh37] Chr17:17p11.2 |
likely benign |
NM_016239.4(MYO15A):c.7655-11C>T |
single nucleotide variant |
not provided [RCV003660427] |
Chr17:18151384 [GRCh38] Chr17:18054698 [GRCh37] Chr17:17p11.2 |
likely benign |
NM_016239.4(MYO15A):c.8088+10A>G |
single nucleotide variant |
not provided [RCV003713697] |
Chr17:18153906 [GRCh38] Chr17:18057220 [GRCh37] Chr17:17p11.2 |
likely benign |
NM_016239.4(MYO15A):c.3060C>T (p.Asp1020=) |
single nucleotide variant |
not provided [RCV003879073] |
Chr17:18121860 [GRCh38] Chr17:18025174 [GRCh37] Chr17:17p11.2 |
likely benign |
NM_016239.4(MYO15A):c.1884G>A (p.Leu628=) |
single nucleotide variant |
not provided [RCV003575208] |
Chr17:18120684 [GRCh38] Chr17:18023998 [GRCh37] Chr17:17p11.2 |
likely benign |
NM_016239.4(MYO15A):c.1299C>T (p.Ala433=) |
single nucleotide variant |
not provided [RCV003687514] |
Chr17:18120099 [GRCh38] Chr17:18023413 [GRCh37] Chr17:17p11.2 |
likely benign |
NM_016239.4(MYO15A):c.33C>T (p.Ala11=) |
single nucleotide variant |
not provided [RCV003877704] |
Chr17:18118833 [GRCh38] Chr17:18022147 [GRCh37] Chr17:17p11.2 |
likely benign |
NM_016239.4(MYO15A):c.8602-16C>A |
single nucleotide variant |
not provided [RCV003662148] |
Chr17:18156938 [GRCh38] Chr17:18060252 [GRCh37] Chr17:17p11.2 |
likely benign |
NM_016239.4(MYO15A):c.4146C>T (p.Gly1382=) |
single nucleotide variant |
not provided [RCV003879049] |
Chr17:18131471 [GRCh38] Chr17:18034785 [GRCh37] Chr17:17p11.2 |
likely benign |
NM_016239.4(MYO15A):c.9676dup (p.Ile3226fs) |
duplication |
not provided [RCV003716475] |
Chr17:18163303..18163304 [GRCh38] Chr17:18066617..18066618 [GRCh37] Chr17:17p11.2 |
pathogenic |
NM_016239.4(MYO15A):c.9948+1G>A |
single nucleotide variant |
not provided [RCV003545038] |
Chr17:18166522 [GRCh38] Chr17:18069836 [GRCh37] Chr17:17p11.2 |
likely pathogenic |
NM_016239.4(MYO15A):c.5870_5876del (p.Ser1957fs) |
deletion |
not provided [RCV003574632] |
Chr17:18142797..18142803 [GRCh38] Chr17:18046111..18046117 [GRCh37] Chr17:17p11.2 |
pathogenic |
NM_016239.4(MYO15A):c.1195T>C (p.Tyr399His) |
single nucleotide variant |
not provided [RCV003572522] |
Chr17:18119995 [GRCh38] Chr17:18023309 [GRCh37] Chr17:17p11.2 |
likely benign |
NM_016239.4(MYO15A):c.4906C>T (p.Gln1636Ter) |
single nucleotide variant |
not provided [RCV003575201] |
Chr17:18138145 [GRCh38] Chr17:18041459 [GRCh37] Chr17:17p11.2 |
pathogenic |
NM_016239.4(MYO15A):c.7056C>T (p.Ser2352=) |
single nucleotide variant |
not provided [RCV003572377] |
Chr17:18149315 [GRCh38] Chr17:18052629 [GRCh37] Chr17:17p11.2 |
likely benign |
NM_016239.4(MYO15A):c.5911-18A>G |
single nucleotide variant |
not provided [RCV003544347] |
Chr17:18143548 [GRCh38] Chr17:18046862 [GRCh37] Chr17:17p11.2 |
likely benign |
NM_016239.4(MYO15A):c.7336C>T (p.Leu2446=) |
single nucleotide variant |
not provided [RCV003663190] |
Chr17:18150706 [GRCh38] Chr17:18054020 [GRCh37] Chr17:17p11.2 |
likely benign |
NM_016239.4(MYO15A):c.9787+12G>A |
single nucleotide variant |
not provided [RCV003824808] |
Chr17:18163850 [GRCh38] Chr17:18067164 [GRCh37] Chr17:17p11.2 |
likely benign |
NM_016239.4(MYO15A):c.5335C>T (p.Leu1779=) |
single nucleotide variant |
not provided [RCV003661518] |
Chr17:18140640 [GRCh38] Chr17:18043954 [GRCh37] Chr17:17p11.2 |
likely benign |
NM_016239.4(MYO15A):c.10047G>A (p.Gln3349=) |
single nucleotide variant |
not provided [RCV003544346] |
Chr17:18167688 [GRCh38] Chr17:18071002 [GRCh37] Chr17:17p11.2 |
likely benign |
NM_016239.4(MYO15A):c.9604G>A (p.Ala3202Thr) |
single nucleotide variant |
not provided [RCV003877684] |
Chr17:18162671 [GRCh38] Chr17:18065985 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_016239.4(MYO15A):c.6510-13T>C |
single nucleotide variant |
not provided [RCV003714742] |
Chr17:18148016 [GRCh38] Chr17:18051330 [GRCh37] Chr17:17p11.2 |
likely benign |
NM_016239.4(MYO15A):c.2384del (p.Pro795fs) |
deletion |
not provided [RCV003572830] |
Chr17:18121180 [GRCh38] Chr17:18024494 [GRCh37] Chr17:17p11.2 |
pathogenic |
NM_016239.4(MYO15A):c.6055C>T (p.Leu2019=) |
single nucleotide variant |
not provided [RCV003546427] |
Chr17:18143878 [GRCh38] Chr17:18047192 [GRCh37] Chr17:17p11.2 |
likely benign |
NM_016239.4(MYO15A):c.8788+19G>A |
single nucleotide variant |
not provided [RCV003714827] |
Chr17:18157249 [GRCh38] Chr17:18060563 [GRCh37] Chr17:17p11.2 |
likely benign |
NM_016239.4(MYO15A):c.3692+14del |
deletion |
not provided [RCV003574429] |
Chr17:18124577 [GRCh38] Chr17:18027891 [GRCh37] Chr17:17p11.2 |
likely benign |
NM_016239.4(MYO15A):c.489G>A (p.Ser163=) |
single nucleotide variant |
not provided [RCV003824428] |
Chr17:18119289 [GRCh38] Chr17:18022603 [GRCh37] Chr17:17p11.2 |
likely benign |
NM_016239.4(MYO15A):c.3015T>C (p.Ala1005=) |
single nucleotide variant |
not provided [RCV003689973] |
Chr17:18121815 [GRCh38] Chr17:18025129 [GRCh37] Chr17:17p11.2 |
likely benign |
NM_016239.4(MYO15A):c.2446del (p.Arg816fs) |
deletion |
not provided [RCV003690368] |
Chr17:18121245 [GRCh38] Chr17:18024559 [GRCh37] Chr17:17p11.2 |
pathogenic |
NM_016239.4(MYO15A):c.9083dup (p.Asp3029fs) |
duplication |
not provided [RCV003687476] |
Chr17:18158637..18158638 [GRCh38] Chr17:18061951..18061952 [GRCh37] Chr17:17p11.2 |
pathogenic |
NM_016239.4(MYO15A):c.7655-18C>G |
single nucleotide variant |
not provided [RCV003688299] |
Chr17:18151377 [GRCh38] Chr17:18054691 [GRCh37] Chr17:17p11.2 |
likely benign |
NM_016239.4(MYO15A):c.4930C>T (p.Gln1644Ter) |
single nucleotide variant |
not provided [RCV003715332] |
Chr17:18138169 [GRCh38] Chr17:18041483 [GRCh37] Chr17:17p11.2 |
pathogenic |
NM_016239.4(MYO15A):c.4038+9T>A |
single nucleotide variant |
not provided [RCV003715747] |
Chr17:18130819 [GRCh38] Chr17:18034133 [GRCh37] Chr17:17p11.2 |
likely benign |
NM_016239.4(MYO15A):c.5406+16G>C |
single nucleotide variant |
not provided [RCV003689982] |
Chr17:18140848 [GRCh38] Chr17:18044162 [GRCh37] Chr17:17p11.2 |
likely benign |
NM_016239.4(MYO15A):c.8862C>T (p.Pro2954=) |
single nucleotide variant |
not provided [RCV003716485] |
Chr17:18157795 [GRCh38] Chr17:18061109 [GRCh37] Chr17:17p11.2 |
likely benign |
NM_016239.4(MYO15A):c.9948+10C>T |
single nucleotide variant |
not provided [RCV003824851] |
Chr17:18166531 [GRCh38] Chr17:18069845 [GRCh37] Chr17:17p11.2 |
likely benign |
NM_016239.4(MYO15A):c.8079G>T (p.Leu2693=) |
single nucleotide variant |
not provided [RCV003687122] |
Chr17:18153887 [GRCh38] Chr17:18057201 [GRCh37] Chr17:17p11.2 |
likely benign |
NM_016239.4(MYO15A):c.609G>C (p.Leu203=) |
single nucleotide variant |
not provided [RCV003574547] |
Chr17:18119409 [GRCh38] Chr17:18022723 [GRCh37] Chr17:17p11.2 |
likely benign |
NM_016239.4(MYO15A):c.969G>C (p.Ser323=) |
single nucleotide variant |
not provided [RCV003662801] |
Chr17:18119769 [GRCh38] Chr17:18023083 [GRCh37] Chr17:17p11.2 |
likely benign |
NM_016239.4(MYO15A):c.4983T>G (p.Leu1661=) |
single nucleotide variant |
not provided [RCV003547788] |
Chr17:18138222 [GRCh38] Chr17:18041536 [GRCh37] Chr17:17p11.2 |
likely benign |
NM_016239.4(MYO15A):c.519C>T (p.Pro173=) |
single nucleotide variant |
not provided [RCV003876984] |
Chr17:18119319 [GRCh38] Chr17:18022633 [GRCh37] Chr17:17p11.2 |
likely benign |
NM_016239.4(MYO15A):c.1119A>G (p.Gly373=) |
single nucleotide variant |
not provided [RCV003574562] |
Chr17:18119919 [GRCh38] Chr17:18023233 [GRCh37] Chr17:17p11.2 |
likely benign |
NM_016239.4(MYO15A):c.6791G>A (p.Trp2264Ter) |
single nucleotide variant |
not provided [RCV003690338] |
Chr17:18148787 [GRCh38] Chr17:18052101 [GRCh37] Chr17:17p11.2 |
pathogenic |
NM_016239.4(MYO15A):c.4038+8GT[38] |
microsatellite |
not provided [RCV003660438] |
Chr17:18130817..18130818 [GRCh38] Chr17:18034131..18034132 [GRCh37] Chr17:17p11.2 |
likely benign |
NM_016239.4(MYO15A):c.7920G>A (p.Val2640=) |
single nucleotide variant |
not provided [RCV003544813] |
Chr17:18152138 [GRCh38] Chr17:18055452 [GRCh37] Chr17:17p11.2 |
likely benign |
NM_016239.4(MYO15A):c.5676G>A (p.Gln1892=) |
single nucleotide variant |
not provided [RCV003574644] |
Chr17:18142105 [GRCh38] Chr17:18045419 [GRCh37] Chr17:17p11.2 |
likely benign |
NM_016239.4(MYO15A):c.7422G>A (p.Thr2474=) |
single nucleotide variant |
not provided [RCV003878620] |
Chr17:18150862 [GRCh38] Chr17:18054176 [GRCh37] Chr17:17p11.2 |
likely benign |
NM_016239.4(MYO15A):c.8862del (p.Asp2955fs) |
deletion |
not provided [RCV003689329] |
Chr17:18157791 [GRCh38] Chr17:18061105 [GRCh37] Chr17:17p11.2 |
pathogenic |
NM_016239.4(MYO15A):c.8973C>T (p.Pro2991=) |
single nucleotide variant |
not provided [RCV003662259] |
Chr17:18158528 [GRCh38] Chr17:18061842 [GRCh37] Chr17:17p11.2 |
likely benign |
NM_016239.4(MYO15A):c.3675G>A (p.Glu1225=) |
single nucleotide variant |
not provided [RCV003689854] |
Chr17:18124548 [GRCh38] Chr17:18027862 [GRCh37] Chr17:17p11.2 |
likely benign |
NM_016239.4(MYO15A):c.2588dup (p.Asn863fs) |
duplication |
not provided [RCV003547407] |
Chr17:18121386..18121387 [GRCh38] Chr17:18024700..18024701 [GRCh37] Chr17:17p11.2 |
pathogenic |
NM_016239.4(MYO15A):c.3866+16G>T |
single nucleotide variant |
not provided [RCV003687549] |
Chr17:18126472 [GRCh38] Chr17:18029786 [GRCh37] Chr17:17p11.2 |
likely benign |
NM_016239.4(MYO15A):c.7967-17A>G |
single nucleotide variant |
not provided [RCV003662116] |
Chr17:18153758 [GRCh38] Chr17:18057072 [GRCh37] Chr17:17p11.2 |
likely benign |
NM_016239.4(MYO15A):c.6509+12T>C |
single nucleotide variant |
not provided [RCV003663073] |
Chr17:18146119 [GRCh38] Chr17:18049433 [GRCh37] Chr17:17p11.2 |
likely benign |
NM_016239.4(MYO15A):c.10492-9C>T |
single nucleotide variant |
not provided [RCV003716514] |
Chr17:18178760 [GRCh38] Chr17:18082074 [GRCh37] Chr17:17p11.2 |
likely benign |
NM_016239.4(MYO15A):c.3867-14A>T |
single nucleotide variant |
not provided [RCV003574682] |
Chr17:18126777 [GRCh38] Chr17:18030091 [GRCh37] Chr17:17p11.2 |
likely benign |
NM_016239.4(MYO15A):c.9990G>A (p.Pro3330=) |
single nucleotide variant |
not provided [RCV003877143] |
Chr17:18167631 [GRCh38] Chr17:18070945 [GRCh37] Chr17:17p11.2 |
likely benign |
NM_016239.4(MYO15A):c.7893+13G>A |
single nucleotide variant |
not provided [RCV003687722] |
Chr17:18151964 [GRCh38] Chr17:18055278 [GRCh37] Chr17:17p11.2 |
likely benign |
NM_016239.4(MYO15A):c.8089-11C>T |
single nucleotide variant |
not provided [RCV003662186] |
Chr17:18154120 [GRCh38] Chr17:18057434 [GRCh37] Chr17:17p11.2 |
likely benign |
NM_016239.4(MYO15A):c.7335C>T (p.Gly2445=) |
single nucleotide variant |
not provided [RCV003824957] |
Chr17:18150705 [GRCh38] Chr17:18054019 [GRCh37] Chr17:17p11.2 |
likely benign |
NM_016239.4(MYO15A):c.6579_6582dup (p.Ala2195fs) |
duplication |
not provided [RCV003543908] |
Chr17:18148095..18148096 [GRCh38] Chr17:18051409..18051410 [GRCh37] Chr17:17p11.2 |
pathogenic |
NM_016239.4(MYO15A):c.9519G>T (p.Gly3173=) |
single nucleotide variant |
not provided [RCV003715360] |
Chr17:18162586 [GRCh38] Chr17:18065900 [GRCh37] Chr17:17p11.2 |
likely benign |
NM_016239.4(MYO15A):c.6691+16C>T |
single nucleotide variant |
not provided [RCV003715416] |
Chr17:18148226 [GRCh38] Chr17:18051540 [GRCh37] Chr17:17p11.2 |
likely benign |
NM_016239.4(MYO15A):c.9009C>T (p.Asp3003=) |
single nucleotide variant |
not provided [RCV003877428] |
Chr17:18158564 [GRCh38] Chr17:18061878 [GRCh37] Chr17:17p11.2 |
likely benign |
NM_016239.4(MYO15A):c.6754_6755del (p.Leu2252fs) |
deletion |
not provided [RCV003545064] |
Chr17:18148557..18148558 [GRCh38] Chr17:18051871..18051872 [GRCh37] Chr17:17p11.2 |
pathogenic |
NM_016239.4(MYO15A):c.1737G>C (p.Thr579=) |
single nucleotide variant |
not provided [RCV003573383] |
Chr17:18120537 [GRCh38] Chr17:18023851 [GRCh37] Chr17:17p11.2 |
likely benign |
NM_016239.4(MYO15A):c.4321-6A>T |
single nucleotide variant |
not provided [RCV003690495] |
Chr17:18133219 [GRCh38] Chr17:18036533 [GRCh37] Chr17:17p11.2 |
likely benign |
NM_016239.4(MYO15A):c.10492-16T>C |
single nucleotide variant |
not provided [RCV003712895] |
Chr17:18178753 [GRCh38] Chr17:18082067 [GRCh37] Chr17:17p11.2 |
likely benign |
NM_016239.4(MYO15A):c.390G>A (p.Ala130=) |
single nucleotide variant |
not provided [RCV003689450] |
Chr17:18119190 [GRCh38] Chr17:18022504 [GRCh37] Chr17:17p11.2 |
likely benign |
NM_016239.4(MYO15A):c.7213-13_7213-10del |
microsatellite |
not provided [RCV003659757] |
Chr17:18150412..18150415 [GRCh38] Chr17:18053726..18053729 [GRCh37] Chr17:17p11.2 |
likely benign |
NM_016239.4(MYO15A):c.3492T>C (p.Tyr1164=) |
single nucleotide variant |
not provided [RCV003714177] |
Chr17:18122292 [GRCh38] Chr17:18025606 [GRCh37] Chr17:17p11.2 |
likely benign |
NM_016239.4(MYO15A):c.1404G>A (p.Arg468=) |
single nucleotide variant |
not provided [RCV003716175] |
Chr17:18120204 [GRCh38] Chr17:18023518 [GRCh37] Chr17:17p11.2 |
likely benign |
NM_016239.4(MYO15A):c.8713+14G>C |
single nucleotide variant |
not provided [RCV003879937] |
Chr17:18157079 [GRCh38] Chr17:18060393 [GRCh37] Chr17:17p11.2 |
likely benign |
NM_016239.4(MYO15A):c.9342C>T (p.Tyr3114=) |
single nucleotide variant |
not provided [RCV003571900] |
Chr17:18159973 [GRCh38] Chr17:18063287 [GRCh37] Chr17:17p11.2 |
likely benign |
NM_016239.4(MYO15A):c.8368C>T (p.Leu2790=) |
single nucleotide variant |
not provided [RCV003714048] |
Chr17:18155341 [GRCh38] Chr17:18058655 [GRCh37] Chr17:17p11.2 |
likely benign |
NM_016239.4(MYO15A):c.4207-5T>G |
single nucleotide variant |
not provided [RCV003878145] |
Chr17:18132448 [GRCh38] Chr17:18035762 [GRCh37] Chr17:17p11.2 |
likely benign |
NM_016239.4(MYO15A):c.498C>G (p.Arg166=) |
single nucleotide variant |
not provided [RCV003659745] |
Chr17:18119298 [GRCh38] Chr17:18022612 [GRCh37] Chr17:17p11.2 |
likely benign |
NM_016239.4(MYO15A):c.3692+17G>A |
single nucleotide variant |
not provided [RCV003877488] |
Chr17:18124582 [GRCh38] Chr17:18027896 [GRCh37] Chr17:17p11.2 |
likely benign |
NM_016239.4(MYO15A):c.8961G>A (p.Arg2987=) |
single nucleotide variant |
not provided [RCV003662480] |
Chr17:18157894 [GRCh38] Chr17:18061208 [GRCh37] Chr17:17p11.2 |
likely benign |
NM_016239.4(MYO15A):c.5212-12A>T |
single nucleotide variant |
not provided [RCV003686810] |
Chr17:18140505 [GRCh38] Chr17:18043819 [GRCh37] Chr17:17p11.2 |
likely benign |
NM_016239.4(MYO15A):c.2169G>A (p.Glu723=) |
single nucleotide variant |
not provided [RCV003543970] |
Chr17:18120969 [GRCh38] Chr17:18024283 [GRCh37] Chr17:17p11.2 |
likely benign |
NM_016239.4(MYO15A):c.1444C>T (p.Arg482Ter) |
single nucleotide variant |
not provided [RCV003661313] |
Chr17:18120244 [GRCh38] Chr17:18023558 [GRCh37] Chr17:17p11.2 |
pathogenic |
NM_016239.4(MYO15A):c.7296C>T (p.Asp2432=) |
single nucleotide variant |
not provided [RCV003544281] |
Chr17:18150512 [GRCh38] Chr17:18053826 [GRCh37] Chr17:17p11.2 |
likely benign |
NM_016239.4(MYO15A):c.8225-15C>A |
single nucleotide variant |
not provided [RCV003712894] |
Chr17:18155095 [GRCh38] Chr17:18058409 [GRCh37] Chr17:17p11.2 |
likely benign |
NM_016239.4(MYO15A):c.1935C>T (p.Pro645=) |
single nucleotide variant |
not provided [RCV003662569] |
Chr17:18120735 [GRCh38] Chr17:18024049 [GRCh37] Chr17:17p11.2 |
likely benign |
NM_016239.4(MYO15A):c.4038+20dup |
duplication |
not provided [RCV003661301] |
Chr17:18130829..18130830 [GRCh38] Chr17:18034143..18034144 [GRCh37] Chr17:17p11.2 |
likely benign |
NM_016239.4(MYO15A):c.2232G>A (p.Ser744=) |
single nucleotide variant |
not provided [RCV003714486] |
Chr17:18121032 [GRCh38] Chr17:18024346 [GRCh37] Chr17:17p11.2 |
likely benign |