NM_000260.4(MYO7A):c.78G>T (p.Ala26=) |
single nucleotide variant |
not provided [RCV003011613] |
Chr11:77142768 [GRCh38] Chr11:76853814 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.5945-9G>A |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 2 [RCV000515762]|not provided [RCV002525012] |
Chr11:77208688 [GRCh38] Chr11:76919733 [GRCh37] Chr11:11q13.5 |
likely benign|uncertain significance |
NM_000260.4(MYO7A):c.652G>A (p.Asp218Asn) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 11 [RCV000022815]|Rare genetic deafness [RCV000215956]|See cases [RCV002251923]|Usher syndrome type 1B [RCV001275897]|not provided [RCV000822163] |
Chr11:77156921 [GRCh38] Chr11:76867967 [GRCh37] Chr11:11q13.5 |
pathogenic|likely pathogenic|uncertain significance |
NM_000260.4(MYO7A):c.2011G>A (p.Gly671Ser) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 11 [RCV000022816]|not specified [RCV000151492] |
Chr11:77174831 [GRCh38] Chr11:76885877 [GRCh37] Chr11:11q13.5 |
pathogenic|uncertain significance |
NM_000260.4(MYO7A):c.1184G>A (p.Arg395His) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 2 [RCV000022817]|Usher syndrome [RCV003317043]|not provided [RCV001852003] |
Chr11:77160266 [GRCh38] Chr11:76871312 [GRCh37] Chr11:11q13.5 |
pathogenic|likely pathogenic |
NM_000260.4(MYO7A):c.767A>G (p.Tyr256Cys) |
single nucleotide variant |
Usher syndrome type 1 [RCV001526726] |
Chr11:77157310 [GRCh38] Chr11:76868356 [GRCh37] Chr11:11q13.5 |
likely pathogenic |
NM_000260.4(MYO7A):c.1201-173A>G |
single nucleotide variant |
not provided [RCV001571529] |
Chr11:77160800 [GRCh38] Chr11:76871846 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.3136dup (p.Leu1046fs) |
duplication |
Hearing loss, autosomal recessive [RCV001291473]|not provided [RCV001863165] |
Chr11:77182449..77182450 [GRCh38] Chr11:76893494..76893495 [GRCh37] Chr11:11q13.5 |
pathogenic|likely pathogenic |
NM_000260.4(MYO7A):c.1258A>T (p.Lys420Ter) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 11 [RCV003447544]|Autosomal recessive nonsyndromic hearing loss 2 [RCV000770845]|Hearing loss, autosomal recessive [RCV001291469]|Rare genetic deafness [RCV000601432]|Usher syndrome type 1 [RCV001003083]|not provided [RCV001091730] |
Chr11:77161030 [GRCh38] Chr11:76872076 [GRCh37] Chr11:11q13.5 |
pathogenic|likely pathogenic |
NM_000260.4(MYO7A):c.1667G>T (p.Gly556Val) |
single nucleotide variant |
Retinitis pigmentosa [RCV000132570] |
Chr11:77162965 [GRCh38] Chr11:76874011 [GRCh37] Chr11:11q13.5 |
likely pathogenic |
NM_000260.4(MYO7A):c.448C>T (p.Arg150Ter) |
single nucleotide variant |
Usher syndrome [RCV000036148]|Usher syndrome type 1B [RCV000012621]|not provided [RCV001390811] |
Chr11:77156069 [GRCh38] Chr11:76867115 [GRCh37] Chr11:11q13.5 |
pathogenic |
NM_000260.4(MYO7A):c.700C>T (p.Gln234Ter) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 2 [RCV000669392]|Autosomal recessive nonsyndromic hearing loss 2 [RCV001807725]|Rare genetic deafness [RCV000036246]|Usher syndrome type 1 [RCV001003081]|Usher syndrome type 1B [RCV000012622]|not provided [RCV001390813] |
Chr11:77156969 [GRCh38] Chr11:76868015 [GRCh37] Chr11:11q13.5 |
pathogenic |
NM_000260.4(MYO7A):c.652_657del (p.Asp218_Ile219del) |
deletion |
Usher syndrome type 1B [RCV000012623] |
Chr11:77156916..77156921 [GRCh38] Chr11:76867962..76867967 [GRCh37] Chr11:11q13.5 |
pathogenic |
NM_000260.4(MYO7A):c.635G>A (p.Arg212His) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 2 [RCV000665766]|Rare genetic deafness [RCV000036232]|Retinal dystrophy [RCV001073914]|Usher syndrome [RCV003389443]|Usher syndrome type 1B [RCV000012624]|not provided [RCV001221383] |
Chr11:77156904 [GRCh38] Chr11:76867950 [GRCh37] Chr11:11q13.5 |
pathogenic|likely pathogenic |
NM_000260.4(MYO7A):c.634C>T (p.Arg212Cys) |
single nucleotide variant |
Usher syndrome type 1B [RCV000012625]|not provided [RCV001047241] |
Chr11:77156903 [GRCh38] Chr11:76867949 [GRCh37] Chr11:11q13.5 |
pathogenic |
NM_000260.4(MYO7A):c.905G>A (p.Arg302His) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 11 [RCV000282374]|Autosomal dominant nonsyndromic hearing loss 11 [RCV002490355]|Autosomal recessive nonsyndromic hearing loss 2 [RCV000337254]|Usher syndrome [RCV000758141]|Usher syndrome type 1 [RCV000386045]|Usher syndrome type 1B [RCV000012626]|not provided [RCV000835045]|not specified [RCV000036251] |
Chr11:77158332 [GRCh38] Chr11:76869378 [GRCh37] Chr11:11q13.5 |
pathogenic|benign|likely benign|conflicting interpretations of pathogenicity |
NM_000260.4(MYO7A):c.731G>C (p.Arg244Pro) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 2 [RCV000012627] |
Chr11:77157000 [GRCh38] Chr11:76868046 [GRCh37] Chr11:11q13.5 |
pathogenic |
MYO7A, IVS3AS, A-G, -2 |
single nucleotide variant |
Deafness, autosomal recessive 2 [RCV000012628] |
Chr11:11q13.5 |
pathogenic |
NM_000260.4(MYO7A):c.3596dup (p.Cys1201fs) |
duplication |
Autosomal recessive nonsyndromic hearing loss 2 [RCV000012629] |
Chr11:77189435..77189436 [GRCh38] Chr11:76900480..76900481 [GRCh37] Chr11:11q13.5 |
pathogenic |
NM_000260.4(MYO7A):c.1797G>A (p.Met599Ile) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 2 [RCV000012630]|Usher syndrome type 1B [RCV000012631] |
Chr11:77166162 [GRCh38] Chr11:76877208 [GRCh37] Chr11:11q13.5 |
pathogenic |
NM_000260.4(MYO7A):c.2662_2670del (p.Lys888_Lys890del) |
deletion |
Autosomal dominant nonsyndromic hearing loss 11 [RCV000012632] |
Chr11:77180443..77180451 [GRCh38] Chr11:76891489..76891497 [GRCh37] Chr11:11q13.5 |
pathogenic |
NM_000260.4(MYO7A):c.1884C>A (p.Cys628Ter) |
single nucleotide variant |
Usher syndrome type 1B [RCV000012633]|not provided [RCV002512985] |
Chr11:77172834 [GRCh38] Chr11:76883880 [GRCh37] Chr11:11q13.5 |
pathogenic |
NM_000260.4(MYO7A):c.93C>A (p.Cys31Ter) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 2 [RCV000665804]|Hearing loss, autosomal recessive [RCV001291462]|Rare genetic deafness [RCV000154341]|Retinitis pigmentosa [RCV000787856]|Usher syndrome type 1B [RCV000012634]|not provided [RCV001226256] |
Chr11:77142783 [GRCh38] Chr11:76853829 [GRCh37] Chr11:11q13.5 |
pathogenic|likely pathogenic |
NM_000260.4(MYO7A):c.1996C>T (p.Arg666Ter) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 11 [RCV002490356]|Autosomal recessive nonsyndromic hearing loss 2 [RCV000669149]|Rare genetic deafness [RCV000151490]|Usher syndrome type 1B [RCV000012635]|not provided [RCV001091731] |
Chr11:77174816 [GRCh38] Chr11:76885862 [GRCh37] Chr11:11q13.5 |
pathogenic |
MYO7A, IVS27AS, G-C, -1 |
single nucleotide variant |
Usher syndrome type 1B [RCV000012636] |
Chr11:11q13.5 |
pathogenic |
NM_000260.4(MYO7A):c.3260T>C (p.Leu1087Pro) |
single nucleotide variant |
Usher syndrome type 1 [RCV000012637] |
Chr11:77182575 [GRCh38] Chr11:76893620 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.1373A>T (p.Asn458Ile) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 11 [RCV000012638]|not provided [RCV001723559] |
Chr11:77162149 [GRCh38] Chr11:76873195 [GRCh37] Chr11:11q13.5 |
pathogenic|likely pathogenic |
NM_000260.4(MYO7A):c.5143GAG[1] (p.Glu1716del) |
microsatellite |
Autosomal recessive nonsyndromic hearing loss 2 [RCV000012639]|Usher syndrome [RCV003230352] |
Chr11:77202398..77202400 [GRCh38] Chr11:76913443..76913445 [GRCh37] Chr11:11q13.5 |
pathogenic |
NM_000260.4(MYO7A):c.5095C>T (p.Gln1699Ter) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 2 [RCV000988614]|not provided [RCV000520405] |
Chr11:77202351 [GRCh38] Chr11:76913396 [GRCh37] Chr11:11q13.5 |
pathogenic|likely pathogenic |
NM_000260.4(MYO7A):c.1960C>T (p.Arg654Cys) |
single nucleotide variant |
Usher syndrome type 1B [RCV001834688]|not provided [RCV000520307] |
Chr11:77174780 [GRCh38] Chr11:76885826 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.5197G>A (p.Val1733Ile) |
single nucleotide variant |
not provided [RCV000520036] |
Chr11:77203088 [GRCh38] Chr11:76914133 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.910G>A (p.Ala304Thr) |
single nucleotide variant |
Usher syndrome type 1B [RCV001835836]|not provided [RCV000518960] |
Chr11:77158337 [GRCh38] Chr11:76869383 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.1097T>C (p.Leu366Pro) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 2 [RCV000666645]|Rare genetic deafness [RCV000036037]|not provided [RCV001268216] |
Chr11:77160179 [GRCh38] Chr11:76871225 [GRCh37] Chr11:11q13.5 |
pathogenic|likely pathogenic |
NM_000260.4(MYO7A):c.1007G>A (p.Arg336His) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 11 [RCV000765013]|Autosomal dominant nonsyndromic hearing loss 11 [RCV001109645]|Autosomal recessive nonsyndromic hearing loss 2 [RCV001109646]|Meniere disease [RCV001526682]|Usher syndrome [RCV001775058]|Usher syndrome type 1 [RCV001109647]|Usher syndrome type 1B [RCV001274696]|not provided [RCV001034270]|not specified [RCV000036038] |
Chr11:77159450 [GRCh38] Chr11:76870496 [GRCh37] Chr11:11q13.5 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_000260.4(MYO7A):c.1132C>T (p.Arg378Cys) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 11 [RCV001111946]|Autosomal recessive nonsyndromic hearing loss 2 [RCV000665432]|Autosomal recessive nonsyndromic hearing loss 2 [RCV001111945]|Retinal dystrophy [RCV001075067]|Usher syndrome type 1 [RCV001111947]|Usher syndrome type 1B [RCV001831624]|not provided [RCV001247583]|not specified [RCV000036039] |
Chr11:77160214 [GRCh38] Chr11:76871260 [GRCh37] Chr11:11q13.5 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_000260.4(MYO7A):c.1133G>A (p.Arg378His) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 2 [RCV000668099]|Usher syndrome type 1B [RCV001831625]|not provided [RCV001762113]|not specified [RCV000036040] |
Chr11:77160215 [GRCh38] Chr11:76871261 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.1133G>C (p.Arg378Pro) |
single nucleotide variant |
not specified [RCV000036041] |
Chr11:77160215 [GRCh38] Chr11:76871261 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.1200+1G>A |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 2 [RCV000672265]|Rare genetic deafness [RCV000036042]|not provided [RCV001852737] |
Chr11:77160283 [GRCh38] Chr11:76871329 [GRCh37] Chr11:11q13.5 |
pathogenic|likely pathogenic |
NM_000260.4(MYO7A):c.1232T>C (p.Val411Ala) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 2 [RCV000665699]|Usher syndrome type 1B [RCV001275900]|not provided [RCV001313198]|not specified [RCV000036043] |
Chr11:77161004 [GRCh38] Chr11:76872050 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.132+5G>A |
single nucleotide variant |
Rare genetic deafness [RCV000036044]|Retinal dystrophy [RCV000225545]|not provided [RCV002513367] |
Chr11:77142827 [GRCh38] Chr11:76853873 [GRCh37] Chr11:11q13.5 |
likely pathogenic|uncertain significance |
NM_000260.4(MYO7A):c.133-7C>T |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 11 [RCV000291242]|Autosomal recessive nonsyndromic hearing loss 2 [RCV000383502]|Usher syndrome type 1 [RCV000339300]|Usher syndrome type 1B [RCV001275885]|not provided [RCV000950439]|not specified [RCV000036045] |
Chr11:77147791 [GRCh38] Chr11:76858837 [GRCh37] Chr11:11q13.5 |
benign|likely benign|uncertain significance |
NM_000260.4(MYO7A):c.1343+8G>A |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 11 [RCV000395456]|Autosomal recessive nonsyndromic hearing loss 2 [RCV000364367]|Usher syndrome type 1 [RCV000309722]|Usher syndrome type 1B [RCV001275901]|not provided [RCV001510009]|not specified [RCV000036046] |
Chr11:77161123 [GRCh38] Chr11:76872169 [GRCh37] Chr11:11q13.5 |
benign|likely benign |
NM_000260.4(MYO7A):c.1344-2A>G |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 2 [RCV000665311]|Ear malformation [RCV001814023]|Nonsyndromic genetic hearing loss [RCV001544528]|Rare genetic deafness [RCV000036047]|Usher syndrome type 1B [RCV001831626]|not provided [RCV001852738] |
Chr11:77162118 [GRCh38] Chr11:76873164 [GRCh37] Chr11:11q13.5 |
pathogenic|likely pathogenic |
NM_000260.4(MYO7A):c.1370C>T (p.Ala457Val) |
single nucleotide variant |
Rare genetic deafness [RCV000036048]|not provided [RCV002513368] |
Chr11:77162146 [GRCh38] Chr11:76873192 [GRCh37] Chr11:11q13.5 |
likely pathogenic |
NM_000260.4(MYO7A):c.1401_1403dup (p.Arg467_His468insGln) |
duplication |
Autosomal recessive nonsyndromic hearing loss 2 [RCV000675070]|Usher syndrome type 1B [RCV001831627]|not provided [RCV001315656]|not specified [RCV000036049] |
Chr11:77162176..77162177 [GRCh38] Chr11:76873222..76873223 [GRCh37] Chr11:11q13.5 |
likely pathogenic|uncertain significance |
NM_000260.4(MYO7A):c.141G>A (p.Trp47Ter) |
single nucleotide variant |
Rare genetic deafness [RCV000036050] |
Chr11:77147806 [GRCh38] Chr11:76858852 [GRCh37] Chr11:11q13.5 |
pathogenic |
NM_000260.4(MYO7A):c.1422G>A (p.Gln474=) |
single nucleotide variant |
not provided [RCV000923601]|not specified [RCV000036051] |
Chr11:77162198 [GRCh38] Chr11:76873244 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.1455G>A (p.Leu485=) |
single nucleotide variant |
not provided [RCV001467280]|not specified [RCV000036052] |
Chr11:77162231 [GRCh38] Chr11:76873277 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.1496T>C (p.Ile499Thr) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 2 [RCV000669217]|not provided [RCV001367505]|not specified [RCV000036053] |
Chr11:77162272 [GRCh38] Chr11:76873318 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.1554+8G>A |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 11 [RCV001112498]|Autosomal recessive nonsyndromic hearing loss 2 [RCV001112497]|Usher syndrome type 1 [RCV001112496]|Usher syndrome type 1B [RCV001276677]|not provided [RCV000724629]|not specified [RCV000036054] |
Chr11:77162338 [GRCh38] Chr11:76873384 [GRCh37] Chr11:11q13.5 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_000260.4(MYO7A):c.1556G>A (p.Gly519Asp) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 11 [RCV001262910]|Autosomal recessive nonsyndromic hearing loss 2 [RCV000669343]|Rare genetic deafness [RCV000844714]|Usher syndrome type 1 [RCV000036055]|Usher syndrome type 1B [RCV001831628]|not provided [RCV000817879] |
Chr11:77162854 [GRCh38] Chr11:76873900 [GRCh37] Chr11:11q13.5 |
pathogenic|likely pathogenic|not provided |
NM_000260.3(MYO7A):c.1556delG |
deletion |
Rare genetic deafness [RCV000036056] |
Chr11:77162852 [GRCh38] Chr11:76873898 [GRCh37] Chr11:11q13.5 |
pathogenic |
NM_000260.4(MYO7A):c.1605C>T (p.Asn535=) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 11 [RCV000283451]|Autosomal recessive nonsyndromic hearing loss 2 [RCV000347843]|Usher syndrome type 1 [RCV000402432]|Usher syndrome type 1B [RCV001272492]|not provided [RCV000886630]|not specified [RCV000036057] |
Chr11:77162903 [GRCh38] Chr11:76873949 [GRCh37] Chr11:11q13.5 |
benign|likely benign|uncertain significance |
NM_000260.4(MYO7A):c.1606G>A (p.Ala536Thr) |
single nucleotide variant |
not provided [RCV001049904]|not specified [RCV000036058] |
Chr11:77162904 [GRCh38] Chr11:76873950 [GRCh37] Chr11:11q13.5 |
likely benign|uncertain significance |
NM_000260.4(MYO7A):c.1690+1G>A |
single nucleotide variant |
Rare genetic deafness [RCV000036059]|not provided [RCV001227530] |
Chr11:77162989 [GRCh38] Chr11:76874035 [GRCh37] Chr11:11q13.5 |
likely pathogenic |
NM_000260.4(MYO7A):c.1721A>C (p.His574Pro) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 2 [RCV000673827]|not specified [RCV000036060] |
Chr11:77166086 [GRCh38] Chr11:76877132 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.1821G>A (p.Ser607=) |
single nucleotide variant |
not provided [RCV000880634]|not specified [RCV000036061] |
Chr11:77172771 [GRCh38] Chr11:76883817 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.182C>G (p.Pro61Arg) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 2 [RCV000672717]|Usher syndrome type 1B [RCV001831629]|not specified [RCV000036062] |
Chr11:77147847 [GRCh38] Chr11:76858893 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.1833_1838dup (p.Ser612_Gln613insHisSer) |
duplication |
Rare genetic deafness [RCV000036063] |
Chr11:77172782..77172783 [GRCh38] Chr11:76883828..76883829 [GRCh37] Chr11:11q13.5 |
likely pathogenic |
NM_000260.4(MYO7A):c.1846C>T (p.Arg616Trp) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 11 [RCV002490492]|Autosomal recessive nonsyndromic hearing loss 2 [RCV000665882]|MYO7A-related condition [RCV003415766]|Usher syndrome type 1B [RCV001826541]|not provided [RCV001060312]|not specified [RCV000036064] |
Chr11:77172796 [GRCh38] Chr11:76883842 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.1854G>A (p.Leu618=) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 11 [RCV000378842]|Autosomal recessive nonsyndromic hearing loss 2 [RCV000265173]|Usher syndrome type 1 [RCV000324225]|not provided [RCV000882335]|not specified [RCV000036065] |
Chr11:77172804 [GRCh38] Chr11:76883850 [GRCh37] Chr11:11q13.5 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_000260.4(MYO7A):c.1868G>A (p.Arg623His) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 2 [RCV000664583]|Usher syndrome type 1B [RCV001276681]|not provided [RCV000933794]|not specified [RCV000036066] |
Chr11:77172818 [GRCh38] Chr11:76883864 [GRCh37] Chr11:11q13.5 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_000260.4(MYO7A):c.19-1G>A |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 2 [RCV000666110]|Rare genetic deafness [RCV000036067]|not provided [RCV001852739] |
Chr11:77142708 [GRCh38] Chr11:76853754 [GRCh37] Chr11:11q13.5 |
likely pathogenic |
NM_000260.4(MYO7A):c.1900C>T (p.Arg634Ter) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 11 [RCV000763275]|Rare genetic deafness [RCV000844715]|Usher syndrome type 1 [RCV000036068]|Usher syndrome type 1B [RCV001272497]|not provided [RCV001238560] |
Chr11:77172850 [GRCh38] Chr11:76883896 [GRCh37] Chr11:11q13.5 |
pathogenic |
NM_000260.4(MYO7A):c.1952_1953insAG (p.Cys652fs) |
insertion |
Rare genetic deafness [RCV000036069] |
Chr11:77174772..77174773 [GRCh38] Chr11:76885818..76885819 [GRCh37] Chr11:11q13.5 |
likely pathogenic |
NM_000260.4(MYO7A):c.1956C>T (p.Cys652=) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 2 [RCV000670890]|not provided [RCV001405305]|not specified [RCV000036070] |
Chr11:77174776 [GRCh38] Chr11:76885822 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.1963C>T (p.Gln655Ter) |
single nucleotide variant |
Rare genetic deafness [RCV000036071]|not provided [RCV001049833] |
Chr11:77174783 [GRCh38] Chr11:76885829 [GRCh37] Chr11:11q13.5 |
pathogenic |
NM_000260.4(MYO7A):c.2002C>T (p.Arg668Cys) |
single nucleotide variant |
Usher syndrome type 1 [RCV001810407]|not provided [RCV000489211]|not specified [RCV000036072] |
Chr11:77174822 [GRCh38] Chr11:76885868 [GRCh37] Chr11:11q13.5 |
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
NM_000260.4(MYO7A):c.2005C>T (p.Arg669Ter) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 11 [RCV000763277]|Autosomal recessive nonsyndromic hearing loss 2 [RCV000409801]|MYO7A-related condition [RCV003390726]|Rare genetic deafness [RCV000844716]|Usher syndrome [RCV000504864]|Usher syndrome type 1 [RCV000036073]|Usher syndrome type 1B [RCV001272498]|not provided [RCV000443077] |
Chr11:77174825 [GRCh38] Chr11:76885871 [GRCh37] Chr11:11q13.5 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
NM_000260.4(MYO7A):c.2035G>A (p.Val679Ile) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 11 [RCV000320261]|Autosomal dominant nonsyndromic hearing loss 11 [RCV002504882]|Autosomal recessive nonsyndromic hearing loss 2 [RCV000289903]|Usher syndrome type 1 [RCV000384251]|Usher syndrome type 1B [RCV001272499]|not provided [RCV000968680]|not specified [RCV000036074] |
Chr11:77174855 [GRCh38] Chr11:76885901 [GRCh37] Chr11:11q13.5 |
benign|likely benign |
NM_000260.4(MYO7A):c.2094+1G>A |
single nucleotide variant |
Rare genetic deafness [RCV000036075]|not provided [RCV001852740] |
Chr11:77174915 [GRCh38] Chr11:76885961 [GRCh37] Chr11:11q13.5 |
pathogenic|likely pathogenic |
NM_000260.4(MYO7A):c.2094+1G>C |
single nucleotide variant |
Rare genetic deafness [RCV000036076] |
Chr11:77174915 [GRCh38] Chr11:76885961 [GRCh37] Chr11:11q13.5 |
likely pathogenic |
NM_000260.4(MYO7A):c.2122A>G (p.Met708Val) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 11 [RCV001578680]|Autosomal recessive nonsyndromic hearing loss 2 [RCV000665188]|Autosomal recessive nonsyndromic hearing loss 2 [RCV001578681]|Usher syndrome type 1 [RCV001526753]|not provided [RCV001288311]|not specified [RCV000036077] |
Chr11:77175399 [GRCh38] Chr11:76886445 [GRCh37] Chr11:11q13.5 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_000260.4(MYO7A):c.2172del (p.Lys725fs) |
deletion |
Rare genetic deafness [RCV000036078]|not provided [RCV001852741] |
Chr11:77175448 [GRCh38] Chr11:76886494 [GRCh37] Chr11:11q13.5 |
pathogenic |
NM_000260.4(MYO7A):c.2187+1G>A |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 11 [RCV002477079]|Rare genetic deafness [RCV000036079]|Usher syndrome type 1 [RCV001003084]|not provided [RCV000519124] |
Chr11:77175465 [GRCh38] Chr11:76886511 [GRCh37] Chr11:11q13.5 |
pathogenic|likely pathogenic |
NM_000260.4(MYO7A):c.2218C>T (p.Arg740Trp) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 11 [RCV001112681]|Autosomal recessive nonsyndromic hearing loss 2 [RCV000666826]|Autosomal recessive nonsyndromic hearing loss 2 [RCV001112680]|Usher syndrome type 1 [RCV001112682]|Usher syndrome type 1B [RCV001276686]|not provided [RCV001852742]|not specified [RCV000036080] |
Chr11:77177579 [GRCh38] Chr11:76888625 [GRCh37] Chr11:11q13.5 |
likely benign|uncertain significance |
NM_000260.4(MYO7A):c.2236G>A (p.Asp746Asn) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 11 [RCV001112684]|Autosomal recessive nonsyndromic hearing loss 2 [RCV001112683]|Usher syndrome type 1 [RCV001112685]|Usher syndrome type 1B [RCV001276687]|not provided [RCV000954644]|not specified [RCV000036081] |
Chr11:77177597 [GRCh38] Chr11:76888643 [GRCh37] Chr11:11q13.5 |
benign|likely benign|conflicting interpretations of pathogenicity |
NM_000260.4(MYO7A):c.2283-1G>T |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 11 [RCV001329739]|Autosomal recessive nonsyndromic hearing loss 2 [RCV000666504]|Rare genetic deafness [RCV000844717]|Usher syndrome type 1 [RCV000036082]|Usher syndrome type 1B [RCV001831630]|not provided [RCV001383209] |
Chr11:77179044 [GRCh38] Chr11:76890090 [GRCh37] Chr11:11q13.5 |
pathogenic |
NM_000260.4(MYO7A):c.2283G>A (p.Arg761=) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 11 [RCV000359683]|Autosomal recessive nonsyndromic hearing loss 2 [RCV000264923]|Usher syndrome type 1 [RCV000329331]|not provided [RCV001041319]|not specified [RCV000036083] |
Chr11:77179045 [GRCh38] Chr11:76890091 [GRCh37] Chr11:11q13.5 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_000260.4(MYO7A):c.2293C>A (p.Leu765Met) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 11 [RCV000270954]|Autosomal recessive nonsyndromic hearing loss 2 [RCV000326027]|Usher syndrome type 1 [RCV000383860]|Usher syndrome type 1B [RCV001276689]|not provided [RCV000727020]|not specified [RCV000036084] |
Chr11:77179055 [GRCh38] Chr11:76890101 [GRCh37] Chr11:11q13.5 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_000260.4(MYO7A):c.2386C>G (p.Arg796Gly) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 2 [RCV000669947]|not specified [RCV000036085] |
Chr11:77179753 [GRCh38] Chr11:76890799 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.2387G>A (p.Arg796Gln) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 2 [RCV000665257]|Usher syndrome type 1B [RCV001826542]|not provided [RCV001296514]|not specified [RCV000036086] |
Chr11:77179754 [GRCh38] Chr11:76890800 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.2447G>A (p.Arg816His) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 11 [RCV000286068]|Autosomal recessive nonsyndromic hearing loss 2 [RCV000343328]|Usher syndrome type 1 [RCV000404583]|Usher syndrome type 1B [RCV001831631]|not provided [RCV000904369]|not specified [RCV000036087] |
Chr11:77179814 [GRCh38] Chr11:76890860 [GRCh37] Chr11:11q13.5 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_000260.4(MYO7A):c.2522T>C (p.Leu841Pro) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 2 [RCV000668293]|Usher syndrome type 1B [RCV001272506]|not specified [RCV000036088] |
Chr11:77179889 [GRCh38] Chr11:76890935 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.2527G>A (p.Val843Met) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 11 [RCV000274914]|Autosomal dominant nonsyndromic hearing loss 11 [RCV002490493]|Autosomal recessive nonsyndromic hearing loss 2 [RCV000367440]|Usher syndrome [RCV001171529]|Usher syndrome type 1 [RCV000318308]|Usher syndrome type 1B [RCV001835641]|not provided [RCV000658008]|not specified [RCV000036089] |
Chr11:77179894 [GRCh38] Chr11:76890940 [GRCh37] Chr11:11q13.5 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_000260.4(MYO7A):c.2558G>A (p.Arg853His) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 11 [RCV000765015]|Autosomal dominant nonsyndromic hearing loss 11 [RCV000791456]|MYO7A-related condition [RCV003407402]|Nonsyndromic genetic hearing loss [RCV001004783]|not provided [RCV000724679]|not specified [RCV000036090] |
Chr11:77179925 [GRCh38] Chr11:76890971 [GRCh37] Chr11:11q13.5 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
NM_000260.4(MYO7A):c.2617C>T (p.Arg873Trp) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 11 [RCV001114121]|Autosomal recessive nonsyndromic hearing loss 2 [RCV000988606]|Meniere disease [RCV001526685]|Usher syndrome type 1 [RCV001110090]|Usher syndrome type 1B [RCV001276694]|not provided [RCV000724180]|not specified [RCV000036091] |
Chr11:77180404 [GRCh38] Chr11:76891450 [GRCh37] Chr11:11q13.5 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_000260.4(MYO7A):c.2754C>T (p.Ala918=) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 11 [RCV000307822]|Autosomal recessive nonsyndromic hearing loss 2 [RCV000403903]|Usher syndrome type 1 [RCV000369469]|Usher syndrome type 1B [RCV001272508]|not provided [RCV000959204]|not specified [RCV000036092] |
Chr11:77181439 [GRCh38] Chr11:76892485 [GRCh37] Chr11:11q13.5 |
benign|likely benign |
NM_000260.4(MYO7A):c.2618G>A (p.Arg873Gln) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 11 [RCV000375210]|Autosomal dominant nonsyndromic hearing loss 11 [RCV002482970]|Autosomal recessive nonsyndromic hearing loss 2 [RCV000317296]|Inborn genetic diseases [RCV002513369]|Usher syndrome type 1 [RCV000278350]|Usher syndrome type 1B [RCV001835642]|not provided [RCV001056783]|not specified [RCV000036093] |
Chr11:77180405 [GRCh38] Chr11:76891451 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.2724C>T (p.Asp908=) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 2 [RCV000669314]|not provided [RCV001409593]|not specified [RCV000036094] |
Chr11:77181409 [GRCh38] Chr11:76892455 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.2850G>A (p.Leu950=) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 2 [RCV000667296]|not provided [RCV002513370]|not specified [RCV000036095] |
Chr11:77181535 [GRCh38] Chr11:76892581 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.286-5C>T |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 11 [RCV000287286]|Autosomal recessive nonsyndromic hearing loss 2 [RCV000373703]|Usher syndrome type 1 [RCV000335289]|Usher syndrome type 1B [RCV001275887]|not provided [RCV000947368]|not specified [RCV000036096] |
Chr11:77155902 [GRCh38] Chr11:76866948 [GRCh37] Chr11:11q13.5 |
benign|likely benign |
NM_000260.4(MYO7A):c.2882G>A (p.Gly961Asp) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 11 [RCV000354842]|Autosomal recessive nonsyndromic hearing loss 2 [RCV000316472]|Usher syndrome type 1 [RCV000263497]|Usher syndrome type 1B [RCV001831632]|not provided [RCV001041392]|not specified [RCV000036097] |
Chr11:77181567 [GRCh38] Chr11:76892613 [GRCh37] Chr11:11q13.5 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_000260.4(MYO7A):c.2886G>C (p.Gln962His) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 11 [RCV001114199]|Autosomal recessive nonsyndromic hearing loss 2 [RCV001114201]|Hearing impairment [RCV001375324]|Usher syndrome type 1 [RCV001114200]|not provided [RCV000585012]|not specified [RCV000036098] |
Chr11:77181571 [GRCh38] Chr11:76892617 [GRCh37] Chr11:11q13.5 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_000260.4(MYO7A):c.288G>A (p.Thr96=) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 11 [RCV000281522]|Autosomal recessive nonsyndromic hearing loss 2 [RCV000404037]|Usher syndrome type 1 [RCV000338664]|Usher syndrome type 1B [RCV001275888]|not provided [RCV000992403]|not specified [RCV000036099] |
Chr11:77155909 [GRCh38] Chr11:76866955 [GRCh37] Chr11:11q13.5 |
benign|likely benign |
NM_000260.4(MYO7A):c.2904G>T (p.Glu968Asp) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 2 [RCV001580451]|Rare genetic deafness [RCV000036100]|Usher syndrome type 1B [RCV003114213]|not provided [RCV000414534] |
Chr11:77181589 [GRCh38] Chr11:76892635 [GRCh37] Chr11:11q13.5 |
pathogenic|likely pathogenic |
NM_000260.4(MYO7A):c.2960C>T (p.Pro987Leu) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 2 [RCV000673709]|not specified [RCV000036101] |
Chr11:77182006 [GRCh38] Chr11:76893052 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.3036A>G (p.Thr1012=) |
single nucleotide variant |
not provided [RCV001474430]|not specified [RCV000036102] |
Chr11:77182082 [GRCh38] Chr11:76893128 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.3042G>T (p.Thr1014=) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 11 [RCV000385063]|Autosomal recessive nonsyndromic hearing loss 2 [RCV000284666]|Usher syndrome type 1 [RCV000328258]|Usher syndrome type 1B [RCV001826543]|not provided [RCV000956980]|not specified [RCV000036103] |
Chr11:77182088 [GRCh38] Chr11:76893134 [GRCh37] Chr11:11q13.5 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_000260.4(MYO7A):c.3246G>A (p.Thr1082=) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 11 [RCV000349362]|Autosomal recessive nonsyndromic hearing loss 2 [RCV000402994]|Usher syndrome type 1 [RCV000296667]|Usher syndrome type 1B [RCV001831633]|not provided [RCV000879767]|not specified [RCV000036104] |
Chr11:77182561 [GRCh38] Chr11:76893606 [GRCh37] Chr11:11q13.5 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_000260.4(MYO7A):c.324C>T (p.Tyr108=) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 11 [RCV000272285]|Autosomal recessive nonsyndromic hearing loss 2 [RCV000364445]|Nonsyndromic genetic hearing loss [RCV000710345]|Usher syndrome type 1 [RCV000307547]|Usher syndrome type 1B [RCV001826544]|not provided [RCV000879348]|not specified [RCV000036105] |
Chr11:77155945 [GRCh38] Chr11:76866991 [GRCh37] Chr11:11q13.5 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_000260.4(MYO7A):c.3327del (p.His1109fs) |
deletion |
Rare genetic deafness [RCV000036106] |
Chr11:77183109 [GRCh38] Chr11:76894154 [GRCh37] Chr11:11q13.5 |
pathogenic |
NM_000260.4(MYO7A):c.3375+3G>A |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 11 [RCV000268456]|Autosomal recessive nonsyndromic hearing loss 2 [RCV000299071]|Autosomal recessive nonsyndromic hearing loss 2 [RCV000668917]|Usher syndrome type 1 [RCV000360825]|Usher syndrome type 1B [RCV001272510]|not provided [RCV002513371]|not specified [RCV000036107] |
Chr11:77183160 [GRCh38] Chr11:76894205 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.3469A>G (p.Ile1157Val) |
single nucleotide variant |
not provided [RCV003105779]|not specified [RCV000036108] |
Chr11:77184681 [GRCh38] Chr11:76895726 [GRCh37] Chr11:11q13.5 |
benign|likely benign|uncertain significance |
NM_000260.4(MYO7A):c.3404C>A (p.Ser1135Tyr) |
single nucleotide variant |
Usher syndrome type 1B [RCV001271745]|not provided [RCV000725729]|not specified [RCV000036109] |
Chr11:77184616 [GRCh38] Chr11:76895661 [GRCh37] Chr11:11q13.5 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_000260.4(MYO7A):c.3476G>T (p.Gly1159Val) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 11 [RCV002496550]|Autosomal recessive nonsyndromic hearing loss 2 [RCV000664879]|Hearing loss [RCV001270103]|Rare genetic deafness [RCV000036110]|Retinal dystrophy [RCV001073977]|Usher syndrome type 1B [RCV001272512]|not provided [RCV000312187] |
Chr11:77184688 [GRCh38] Chr11:76895733 [GRCh37] Chr11:11q13.5 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
NM_000260.4(MYO7A):c.3503+12_3503+33del |
deletion |
Autosomal dominant nonsyndromic hearing loss 11 [RCV002504883]|Autosomal recessive nonsyndromic hearing loss 2 [RCV000988608]|Nonsyndromic genetic hearing loss [RCV000710330]|Usher syndrome type 1B [RCV001831634]|not provided [RCV001510010]|not specified [RCV000036111] |
Chr11:77184726..77184747 [GRCh38] Chr11:76895772..76895793 [GRCh37] Chr11:11q13.5 |
benign |
NM_000260.4(MYO7A):c.3508G>A (p.Glu1170Lys) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 11 [RCV000763278]|Autosomal recessive nonsyndromic hearing loss 2 [RCV000664470]|Autosomal recessive nonsyndromic hearing loss 2 [RCV000988609]|Hearing loss, autosomal recessive [RCV001291476]|Rare genetic deafness [RCV000036112]|Retinal dystrophy [RCV001075104]|Usher syndrome type 1B [RCV001826545]|not provided [RCV001385688] |
Chr11:77189348 [GRCh38] Chr11:76900393 [GRCh37] Chr11:11q13.5 |
pathogenic|likely pathogenic |
NM_000260.4(MYO7A):c.3532del (p.Gln1178fs) |
deletion |
Rare genetic deafness [RCV000036113]|not provided [RCV001852743] |
Chr11:77189372 [GRCh38] Chr11:76900417 [GRCh37] Chr11:11q13.5 |
pathogenic|likely pathogenic |
NM_000260.4(MYO7A):c.3533A>C (p.Gln1178Pro) |
single nucleotide variant |
Rare genetic deafness [RCV000036114] |
Chr11:77189373 [GRCh38] Chr11:76900418 [GRCh37] Chr11:11q13.5 |
likely pathogenic |
NM_000260.4(MYO7A):c.3543_3544dup (p.Asn1182fs) |
microsatellite |
Rare genetic deafness [RCV000036115]|not provided [RCV001219969] |
Chr11:77189380..77189381 [GRCh38] Chr11:76900425..76900426 [GRCh37] Chr11:11q13.5 |
pathogenic|likely pathogenic |
NM_000260.4(MYO7A):c.3572G>A (p.Gly1191Asp) |
single nucleotide variant |
Rare genetic deafness [RCV000036116] |
Chr11:77189412 [GRCh38] Chr11:76900457 [GRCh37] Chr11:11q13.5 |
likely pathogenic |
NM_000260.4(MYO7A):c.358C>A (p.Arg120Ser) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 2 [RCV000665697]|Usher syndrome type 1B [RCV001831635]|not provided [RCV000756411]|not specified [RCV000036117] |
Chr11:77155979 [GRCh38] Chr11:76867025 [GRCh37] Chr11:11q13.5 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_000260.4(MYO7A):c.359G>A (p.Arg120His) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 11 [RCV001196537]|Usher syndrome type 1B [RCV001275889]|not provided [RCV001785454]|not specified [RCV000036118] |
Chr11:77155980 [GRCh38] Chr11:76867026 [GRCh37] Chr11:11q13.5 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_000260.4(MYO7A):c.3602G>C (p.Cys1201Ser) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 11 [RCV001002751]|Autosomal recessive nonsyndromic hearing loss 2 [RCV000665509]|Autosomal recessive nonsyndromic hearing loss 2 [RCV001111010]|Usher syndrome type 1 [RCV001111011]|not provided [RCV000937221]|not specified [RCV000036119] |
Chr11:77189442 [GRCh38] Chr11:76900487 [GRCh37] Chr11:11q13.5 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_000260.4(MYO7A):c.3652G>A (p.Gly1218Arg) |
single nucleotide variant |
Usher syndrome [RCV003230377]|not provided [RCV001852744]|not specified [RCV000036120] |
Chr11:77190041 [GRCh38] Chr11:76901086 [GRCh37] Chr11:11q13.5 |
pathogenic|uncertain significance |
NM_000260.4(MYO7A):c.3696_3706del (p.Arg1232fs) |
deletion |
Rare genetic deafness [RCV000036121]|Usher syndrome type 1B [RCV001826546]|not provided [RCV001852745] |
Chr11:77190084..77190094 [GRCh38] Chr11:76901130..76901140 [GRCh37] Chr11:11q13.5 |
pathogenic |
NM_000260.4(MYO7A):c.3719G>A (p.Arg1240Gln) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 11 [RCV000763279]|Autosomal recessive nonsyndromic hearing loss 2 [RCV000984006]|Inborn genetic diseases [RCV000623302]|MYO7A-Related Disorders [RCV000778342]|MYO7A-related condition [RCV003390727]|Retinal dystrophy [RCV001075882]|Usher syndrome [RCV000504703]|Usher syndrome type 1 [RCV000036122]|Usher syndrome type 1B [RCV001272514]|not provided [RCV000256123] |
Chr11:77190108 [GRCh38] Chr11:76901153 [GRCh37] Chr11:11q13.5 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|not provided |
NM_000260.4(MYO7A):c.3750+5G>A |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 11 [RCV000660456]|Usher syndrome type 1B [RCV001271748]|not provided [RCV000728067]|not specified [RCV000036124] |
Chr11:77190144 [GRCh38] Chr11:76901189 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.3750+7G>A |
single nucleotide variant |
Usher syndrome type 1B [RCV001271749]|not provided [RCV000726843]|not specified [RCV000036125] |
Chr11:77190146 [GRCh38] Chr11:76901191 [GRCh37] Chr11:11q13.5 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_000260.4(MYO7A):c.3750+9G>A |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 11 [RCV000332524]|Autosomal recessive nonsyndromic hearing loss 2 [RCV000292943]|Usher syndrome type 1 [RCV000389407]|Usher syndrome type 1B [RCV001271750]|not provided [RCV000724300]|not specified [RCV000036126] |
Chr11:77190148 [GRCh38] Chr11:76901193 [GRCh37] Chr11:11q13.5 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_000260.4(MYO7A):c.3764del (p.Lys1255fs) |
deletion |
Autosomal dominant nonsyndromic hearing loss 11 [RCV002496551]|Autosomal recessive nonsyndromic hearing loss 2 [RCV000412422]|Rare genetic deafness [RCV000844720]|Usher syndrome [RCV000505077]|Usher syndrome type 1 [RCV000036127]|Usher syndrome type 1B [RCV001835643]|not provided [RCV001785455] |
Chr11:77190709 [GRCh38] Chr11:76901754 [GRCh37] Chr11:11q13.5 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
NM_000260.4(MYO7A):c.380T>C (p.Ile127Thr) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 11 [RCV000324036]|Autosomal recessive nonsyndromic hearing loss 2 [RCV000267119]|Autosomal recessive nonsyndromic hearing loss 2 [RCV000665330]|Usher syndrome type 1 [RCV000371726]|not provided [RCV001034155]|not specified [RCV000036128] |
Chr11:77156001 [GRCh38] Chr11:76867047 [GRCh37] Chr11:11q13.5 |
likely benign|uncertain significance |
NM_000260.4(MYO7A):c.3828G>A (p.Ser1276=) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 11 [RCV000375278]|Autosomal recessive nonsyndromic hearing loss 2 [RCV000278460]|Usher syndrome type 1 [RCV000350138]|Usher syndrome type 1B [RCV001273493]|not provided [RCV000959205]|not specified [RCV000036129] |
Chr11:77190774 [GRCh38] Chr11:76901819 [GRCh37] Chr11:11q13.5 |
benign|likely benign |
NM_000260.4(MYO7A):c.3924+12C>T |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 11 [RCV000339373]|Autosomal recessive nonsyndromic hearing loss 2 [RCV000309114]|Usher syndrome type 1 [RCV000406084]|not provided [RCV001519505]|not specified [RCV000036130] |
Chr11:77190882 [GRCh38] Chr11:76901927 [GRCh37] Chr11:11q13.5 |
benign |
NM_000260.4(MYO7A):c.3978C>T (p.Cys1326=) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 11 [RCV001114464]|Autosomal recessive nonsyndromic hearing loss 2 [RCV001113089]|Usher syndrome type 1 [RCV001114465]|not provided [RCV000761794]|not specified [RCV000036131] |
Chr11:77192104 [GRCh38] Chr11:76903149 [GRCh37] Chr11:11q13.5 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_000260.4(MYO7A):c.397C>T (p.His133Tyr) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 11 [RCV002482971]|Rare genetic deafness [RCV000036132]|not provided [RCV001852746] |
Chr11:77156018 [GRCh38] Chr11:76867064 [GRCh37] Chr11:11q13.5 |
pathogenic|likely pathogenic |
NM_000260.4(MYO7A):c.401T>A (p.Ile134Asn) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 2 [RCV000673536]|MYO7A-Related Disorders [RCV001249698]|Rare genetic deafness [RCV000036134]|Retinal dystrophy [RCV001074683]|Usher syndrome [RCV001775073]|not provided [RCV001231996] |
Chr11:77156022 [GRCh38] Chr11:76867068 [GRCh37] Chr11:11q13.5 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
NM_000260.4(MYO7A):c.4023C>T (p.Pro1341=) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 11 [RCV000307896]|Autosomal recessive nonsyndromic hearing loss 2 [RCV000365602]|Usher syndrome type 1 [RCV000269187]|Usher syndrome type 1B [RCV001273496]|not provided [RCV000956981]|not specified [RCV000036135] |
Chr11:77192149 [GRCh38] Chr11:76903194 [GRCh37] Chr11:11q13.5 |
benign|likely benign |
NM_000260.4(MYO7A):c.4065del (p.His1355fs) |
deletion |
Rare genetic deafness [RCV000036136] |
Chr11:77192191 [GRCh38] Chr11:76903236 [GRCh37] Chr11:11q13.5 |
likely pathogenic |
NM_000260.4(MYO7A):c.4074C>T (p.Ser1358=) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 11 [RCV000386752]|Autosomal recessive nonsyndromic hearing loss 2 [RCV000261940]|Cohen syndrome [RCV001449923]|Usher syndrome type 1 [RCV000319840]|Usher syndrome type 1B [RCV001273497]|not provided [RCV000963474]|not specified [RCV000036137] |
Chr11:77192200 [GRCh38] Chr11:76903245 [GRCh37] Chr11:11q13.5 |
benign|likely benign|uncertain significance |
NM_000260.4(MYO7A):c.4153-10C>G |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 2 [RCV000667318]|not provided [RCV001359554]|not specified [RCV000036138] |
Chr11:77194344 [GRCh38] Chr11:76905389 [GRCh37] Chr11:11q13.5 |
likely benign|uncertain significance |
NM_000260.4(MYO7A):c.4251C>T (p.Ile1417=) |
single nucleotide variant |
not provided [RCV002513372]|not specified [RCV000036139] |
Chr11:77194452 [GRCh38] Chr11:76905497 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.4293G>A (p.Trp1431Ter) |
single nucleotide variant |
Rare genetic deafness [RCV000036140]|Retinal dystrophy [RCV001075167]|Usher syndrome type 1B [RCV001835644]|not provided [RCV001852747] |
Chr11:77194494 [GRCh38] Chr11:76905539 [GRCh37] Chr11:11q13.5 |
pathogenic|likely pathogenic |
NM_000260.4(MYO7A):c.4360G>A (p.Val1454Ile) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 2 [RCV000666151]|Autosomal recessive nonsyndromic hearing loss 2 [RCV000988612]|not provided [RCV001244369]|not specified [RCV000036141] |
Chr11:77197517 [GRCh38] Chr11:76908562 [GRCh37] Chr11:11q13.5 |
benign|likely benign|uncertain significance |
NM_000260.4(MYO7A):c.440G>A (p.Arg147His) |
single nucleotide variant |
Usher syndrome type 1B [RCV001826547]|not provided [RCV002513373]|not specified [RCV000036142] |
Chr11:77156061 [GRCh38] Chr11:76867107 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.4411T>C (p.Ser1471Pro) |
single nucleotide variant |
Rare genetic deafness [RCV000036143]|not provided [RCV001852748] |
Chr11:77197568 [GRCh38] Chr11:76908613 [GRCh37] Chr11:11q13.5 |
likely pathogenic |
NM_000260.4(MYO7A):c.4442-2A>C |
single nucleotide variant |
Rare genetic deafness [RCV000036144]|not provided [RCV001379547] |
Chr11:77198493 [GRCh38] Chr11:76909538 [GRCh37] Chr11:11q13.5 |
likely pathogenic |
NM_000260.4(MYO7A):c.4450C>T (p.Leu1484Phe) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 11 [RCV001113191]|Autosomal recessive nonsyndromic hearing loss 2 [RCV001113192]|Usher syndrome type 1 [RCV000778344]|Usher syndrome type 1B [RCV001273499]|not provided [RCV001239874]|not specified [RCV000036145] |
Chr11:77198503 [GRCh38] Chr11:76909548 [GRCh37] Chr11:11q13.5 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_000260.4(MYO7A):c.4461C>T (p.Asn1487=) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 11 [RCV000344591]|Autosomal recessive nonsyndromic hearing loss 2 [RCV000391381]|Usher syndrome type 1 [RCV000291934]|Usher syndrome type 1B [RCV001273500]|not provided [RCV000959206]|not specified [RCV000036146] |
Chr11:77198514 [GRCh38] Chr11:76909559 [GRCh37] Chr11:11q13.5 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_000260.4(MYO7A):c.4471G>A (p.Val1491Met) |
single nucleotide variant |
Usher syndrome type 1B [RCV001826548]|not provided [RCV001241478]|not specified [RCV000036147] |
Chr11:77198524 [GRCh38] Chr11:76909569 [GRCh37] Chr11:11q13.5 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_000260.4(MYO7A):c.449G>A (p.Arg150Gln) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 11 [RCV000765012]|Autosomal dominant nonsyndromic hearing loss 11 [RCV001109456]|Autosomal recessive nonsyndromic hearing loss 2 [RCV001109455]|Usher syndrome type 1 [RCV001109457]|Usher syndrome type 1B [RCV001275891]|not provided [RCV001241133]|not specified [RCV000036149] |
Chr11:77156070 [GRCh38] Chr11:76867116 [GRCh37] Chr11:11q13.5 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_000260.4(MYO7A):c.4544_4551delinsCA (p.Glu1515_Met1517delinsAla) |
indel |
Rare genetic deafness [RCV000036150]|not provided [RCV000725794] |
Chr11:77198597..77198604 [GRCh38] Chr11:76909642..76909649 [GRCh37] Chr11:11q13.5 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
NM_000260.4(MYO7A):c.4568+12C>G |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 11 [RCV000314200]|Autosomal recessive nonsyndromic hearing loss 2 [RCV000403942]|Usher syndrome type 1 [RCV000371272]|not provided [RCV001519649]|not specified [RCV000036151] |
Chr11:77198633 [GRCh38] Chr11:76909678 [GRCh37] Chr11:11q13.5 |
benign|likely benign |
NM_000260.4(MYO7A):c.4577G>A (p.Arg1526His) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 11 [RCV001108927]|Autosomal recessive nonsyndromic hearing loss 2 [RCV001108929]|Usher syndrome type 1 [RCV001108928]|Usher syndrome type 1B [RCV001831636]|not provided [RCV002513374]|not specified [RCV000036152] |
Chr11:77199543 [GRCh38] Chr11:76910588 [GRCh37] Chr11:11q13.5 |
likely benign|uncertain significance |
NM_000260.4(MYO7A):c.4589C>T (p.Ser1530Leu) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 11 [RCV000313203]|Autosomal recessive nonsyndromic hearing loss 2 [RCV000356336]|Usher syndrome type 1 [RCV000404653]|Usher syndrome type 1B [RCV001273501]|not provided [RCV000992404]|not specified [RCV000036153] |
Chr11:77199555 [GRCh38] Chr11:76910600 [GRCh37] Chr11:11q13.5 |
benign|likely benign |
NM_000260.4(MYO7A):c.458G>A (p.Cys153Tyr) |
single nucleotide variant |
Rare genetic deafness [RCV000036154] |
Chr11:77156079 [GRCh38] Chr11:76867125 [GRCh37] Chr11:11q13.5 |
likely pathogenic |
NM_000260.4(MYO7A):c.4619C>T (p.Ala1540Val) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 11 [RCV001578682]|Autosomal recessive nonsyndromic hearing loss 2 [RCV001578683]|Usher syndrome type 1 [RCV001526433]|not provided [RCV000926624]|not specified [RCV000036155] |
Chr11:77199585 [GRCh38] Chr11:76910630 [GRCh37] Chr11:11q13.5 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_000260.4(MYO7A):c.4620G>A (p.Ala1540=) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 11 [RCV000263890]|Autosomal recessive nonsyndromic hearing loss 2 [RCV000319034]|Usher syndrome type 1 [RCV000359709]|not provided [RCV000967226]|not specified [RCV000036156] |
Chr11:77199586 [GRCh38] Chr11:76910631 [GRCh37] Chr11:11q13.5 |
benign|likely benign|uncertain significance |
NM_000260.4(MYO7A):c.468C>T (p.Ile156=) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 11 [RCV000291648]|Autosomal recessive nonsyndromic hearing loss 2 [RCV000322187]|Usher syndrome type 1 [RCV000376766]|Usher syndrome type 1B [RCV001275892]|not provided [RCV000712351]|not specified [RCV000036157] |
Chr11:77156089 [GRCh38] Chr11:76867135 [GRCh37] Chr11:11q13.5 |
benign|likely benign |
NM_000260.4(MYO7A):c.4695G>A (p.Thr1565=) |
single nucleotide variant |
not provided [RCV001476862]|not specified [RCV000036158] |
Chr11:77199661 [GRCh38] Chr11:76910706 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.4697C>T (p.Thr1566Met) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 11 [RCV000325844]|Autosomal recessive nonsyndromic hearing loss 2 [RCV000384892]|Usher syndrome type 1 [RCV000677317]|Usher syndrome type 1B [RCV001826549]|not provided [RCV000950207]|not specified [RCV000036159] |
Chr11:77199663 [GRCh38] Chr11:76910708 [GRCh37] Chr11:11q13.5 |
benign|likely benign|conflicting interpretations of pathogenicity |
NM_000260.4(MYO7A):c.4698G>A (p.Thr1566=) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 11 [RCV000350236]|Autosomal recessive nonsyndromic hearing loss 2 [RCV000290552]|Usher syndrome type 1 [RCV000393918]|Usher syndrome type 1B [RCV001831637]|not provided [RCV000879068]|not specified [RCV000036160] |
Chr11:77199664 [GRCh38] Chr11:76910709 [GRCh37] Chr11:11q13.5 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_000260.4(MYO7A):c.4739A>G (p.Tyr1580Cys) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 11 [RCV001109030]|Autosomal recessive nonsyndromic hearing loss 2 [RCV001114663]|Hearing impairment [RCV001375116]|Usher syndrome type 1 [RCV001114664]|Usher syndrome type 1B [RCV001271766]|not provided [RCV001246336]|not specified [RCV000036161] |
Chr11:77199705 [GRCh38] Chr11:76910750 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.4755C>T (p.Ser1585=) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 11 [RCV000351371]|Autosomal recessive nonsyndromic hearing loss 2 [RCV000296516]|Usher syndrome type 1 [RCV000403200]|Usher syndrome type 1B [RCV001273502]|not provided [RCV001510011]|not specified [RCV000036162] |
Chr11:77199721 [GRCh38] Chr11:76910766 [GRCh37] Chr11:11q13.5 |
benign |
NM_000260.4(MYO7A):c.47T>C (p.Leu16Ser) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 11 [RCV000261128]|Autosomal recessive nonsyndromic hearing loss 2 [RCV000353260]|Usher syndrome type 1 [RCV000677332]|Usher syndrome type 1B [RCV001275883]|not provided [RCV000132571]|not specified [RCV000036163] |
Chr11:77142737 [GRCh38] Chr11:76853783 [GRCh37] Chr11:11q13.5 |
benign|likely benign |
NM_000260.4(MYO7A):c.4800G>T (p.Gly1600=) |
single nucleotide variant |
not provided [RCV000902990]|not specified [RCV000036164] |
Chr11:77199766 [GRCh38] Chr11:76910811 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.4805G>A (p.Arg1602Gln) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 11 [RCV001111380]|Autosomal dominant nonsyndromic hearing loss 11 [RCV002496552]|Autosomal recessive nonsyndromic hearing loss 2 [RCV001109034]|Usher syndrome type 1 [RCV000223626]|Usher syndrome type 1B [RCV001272799]|not provided [RCV000132572]|not specified [RCV000036165] |
Chr11:77199771 [GRCh38] Chr11:76910816 [GRCh37] Chr11:11q13.5 |
pathogenic|benign|likely benign |
NM_000260.4(MYO7A):c.4821T>A (p.Tyr1607Ter) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 2 [RCV000670662]|Rare genetic deafness [RCV000036166]|not provided [RCV001201930] |
Chr11:77199787 [GRCh38] Chr11:76910832 [GRCh37] Chr11:11q13.5 |
pathogenic|likely pathogenic |
NM_000260.4(MYO7A):c.484G>A (p.Ala162Thr) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 2 [RCV000668896]|Usher syndrome type 1B [RCV001826550]|not provided [RCV001762114]|not specified [RCV000036167] |
Chr11:77156673 [GRCh38] Chr11:76867719 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.4910A>G (p.His1637Arg) |
single nucleotide variant |
Usher syndrome type 1B [RCV001831638]|not specified [RCV000036168] |
Chr11:77201505 [GRCh38] Chr11:76912550 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.494C>T (p.Thr165Met) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 2 [RCV000666360]|Rare genetic deafness [RCV000036169]|Usher syndrome type 1B [RCV001826551]|not provided [RCV000434773] |
Chr11:77156683 [GRCh38] Chr11:76867729 [GRCh37] Chr11:11q13.5 |
pathogenic|likely pathogenic |
NM_000260.4(MYO7A):c.4950C>T (p.Asn1650=) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 11 [RCV000328945]|Autosomal recessive nonsyndromic hearing loss 2 [RCV000363792]|Usher syndrome type 1 [RCV000268680]|Usher syndrome type 1B [RCV001273503]|not provided [RCV000965212]|not specified [RCV000036170] |
Chr11:77201545 [GRCh38] Chr11:76912590 [GRCh37] Chr11:11q13.5 |
benign|likely benign |
NM_000260.4(MYO7A):c.496del (p.Glu166fs) |
deletion |
Autosomal recessive nonsyndromic hearing loss 2 [RCV001837445]|Hearing loss, autosomal recessive [RCV001291465]|Rare genetic deafness [RCV000036171]|not provided [RCV001390812] |
Chr11:77156684 [GRCh38] Chr11:76867730 [GRCh37] Chr11:11q13.5 |
pathogenic|likely pathogenic |
NM_000260.4(MYO7A):c.4983C>T (p.Asp1661=) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 2 [RCV000664868]|Usher syndrome type 1B [RCV001273504]|not provided [RCV000917460]|not specified [RCV000036172] |
Chr11:77201578 [GRCh38] Chr11:76912623 [GRCh37] Chr11:11q13.5 |
likely benign|uncertain significance |
NM_000260.4(MYO7A):c.4992C>T (p.Thr1664=) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 11 [RCV000274957]|Autosomal recessive nonsyndromic hearing loss 2 [RCV000330070]|Usher syndrome type 1 [RCV000383514]|Usher syndrome type 1B [RCV001835645]|not provided [RCV000904370]|not specified [RCV000036173] |
Chr11:77201587 [GRCh38] Chr11:76912632 [GRCh37] Chr11:11q13.5 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_000260.4(MYO7A):c.4996A>T (p.Ser1666Cys) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 11 [RCV000335830]|Autosomal recessive nonsyndromic hearing loss 2 [RCV000294774]|Usher syndrome type 1 [RCV000389186]|Usher syndrome type 1B [RCV001273505]|not provided [RCV001512276]|not specified [RCV000036174] |
Chr11:77201591 [GRCh38] Chr11:76912636 [GRCh37] Chr11:11q13.5 |
benign |
NM_000260.4(MYO7A):c.5101C>T (p.Arg1701Ter) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 2 [RCV000673155]|Autosomal recessive nonsyndromic hearing loss 2 [RCV001807757]|Rare genetic deafness [RCV000036175]|Retinal dystrophy [RCV001074879]|not provided [RCV001852749] |
Chr11:77202357 [GRCh38] Chr11:76913402 [GRCh37] Chr11:11q13.5 |
pathogenic|likely pathogenic |
NM_000260.4(MYO7A):c.5108C>T (p.Ala1703Val) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 11 [RCV000366371]|Autosomal recessive nonsyndromic hearing loss 2 [RCV000404997]|MYO7A-Related Disorders [RCV003330409]|Usher syndrome type 1 [RCV000306975]|Usher syndrome type 1B [RCV001272803]|not provided [RCV000724217]|not specified [RCV000036176] |
Chr11:77202364 [GRCh38] Chr11:76913409 [GRCh37] Chr11:11q13.5 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance|not provided |
NM_000260.4(MYO7A):c.510G>A (p.Leu170=) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 11 [RCV001111775]|Autosomal recessive nonsyndromic hearing loss 2 [RCV001111776]|Usher syndrome type 1 [RCV001111777]|Usher syndrome type 1B [RCV001831639]|not provided [RCV000839307]|not specified [RCV000036177] |
Chr11:77156699 [GRCh38] Chr11:76867745 [GRCh37] Chr11:11q13.5 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_000260.4(MYO7A):c.5115C>T (p.Pro1705=) |
single nucleotide variant |
not provided [RCV000910504]|not specified [RCV000036178] |
Chr11:77202371 [GRCh38] Chr11:76913416 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.5156A>G (p.Tyr1719Cys) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 11 [RCV000271936]|Autosomal dominant nonsyndromic hearing loss 11 [RCV002496553]|Autosomal recessive nonsyndromic hearing loss 2 [RCV000367756]|Usher syndrome type 1 [RCV000677322]|Usher syndrome type 1B [RCV001273508]|not provided [RCV000755320]|not specified [RCV000036179] |
Chr11:77202412 [GRCh38] Chr11:76913457 [GRCh37] Chr11:11q13.5 |
benign|likely benign |
NM_000260.4(MYO7A):c.5215C>A (p.Arg1739=) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 11 [RCV000285062]|Autosomal recessive nonsyndromic hearing loss 2 [RCV000380573]|Usher syndrome type 1 [RCV000339967]|Usher syndrome type 1B [RCV001831640]|not provided [RCV000224828]|not specified [RCV000036181] |
Chr11:77203106 [GRCh38] Chr11:76914151 [GRCh37] Chr11:11q13.5 |
benign|likely benign |
NM_000260.4(MYO7A):c.5259G>A (p.Lys1753=) |
single nucleotide variant |
not provided [RCV000712352]|not specified [RCV000036182] |
Chr11:77203150 [GRCh38] Chr11:76914195 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.5227C>T (p.Arg1743Trp) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 11 [RCV000391447]|Autosomal recessive nonsyndromic hearing loss 2 [RCV000988615]|Usher syndrome type 1 [RCV000286019]|Usher syndrome type 1B [RCV001272808]|not provided [RCV000723623]|not specified [RCV000036183] |
Chr11:77203118 [GRCh38] Chr11:76914163 [GRCh37] Chr11:11q13.5 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_000260.4(MYO7A):c.5326+13C>T |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 11 [RCV000370834]|Autosomal recessive nonsyndromic hearing loss 2 [RCV000404613]|Usher syndrome type 1 [RCV000311530]|not provided [RCV001509717]|not specified [RCV000036184] |
Chr11:77203230 [GRCh38] Chr11:76914275 [GRCh37] Chr11:11q13.5 |
benign|likely benign |
NM_000260.4(MYO7A):c.5327-11A>G |
single nucleotide variant |
Rare genetic deafness [RCV000036185] |
Chr11:77204065 [GRCh38] Chr11:76915110 [GRCh37] Chr11:11q13.5 |
likely pathogenic|uncertain significance |
NM_000260.4(MYO7A):c.5355G>A (p.Pro1785=) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 11 [RCV002490494]|not provided [RCV001427485]|not specified [RCV000036186] |
Chr11:77204104 [GRCh38] Chr11:76915149 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.5392C>T (p.Gln1798Ter) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 2 [RCV000669320]|Rare genetic deafness [RCV000036187]|Retinal dystrophy [RCV001074754]|Usher syndrome type 1B [RCV001273512]|not provided [RCV000413379] |
Chr11:77204141 [GRCh38] Chr11:76915186 [GRCh37] Chr11:11q13.5 |
pathogenic |
NM_000260.4(MYO7A):c.5481-14G>A |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 11 [RCV000267858]|Autosomal recessive nonsyndromic hearing loss 2 [RCV000357815]|Usher syndrome type 1 [RCV000321752]|not provided [RCV001520332]|not specified [RCV000036188] |
Chr11:77205448 [GRCh38] Chr11:76916493 [GRCh37] Chr11:11q13.5 |
benign|likely benign|uncertain significance |
NM_000260.4(MYO7A):c.5487C>T (p.Ser1829=) |
single nucleotide variant |
not provided [RCV000658620]|not specified [RCV000036189] |
Chr11:77205468 [GRCh38] Chr11:76916513 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.5528T>G (p.Leu1843Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV003162312]|Usher syndrome type 1B [RCV001273513]|not specified [RCV000036190] |
Chr11:77205509 [GRCh38] Chr11:76916554 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.5559C>T (p.His1853=) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 2 [RCV000664543]|not provided [RCV000906706]|not specified [RCV000036191] |
Chr11:77205540 [GRCh38] Chr11:76916585 [GRCh37] Chr11:11q13.5 |
benign|likely benign |
NM_000260.4(MYO7A):c.5598C>A (p.Leu1866=) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 11 [RCV001114999]|Autosomal recessive nonsyndromic hearing loss 2 [RCV001109355]|Usher syndrome type 1 [RCV001114998]|not provided [RCV000828195]|not specified [RCV000036192] |
Chr11:77205579 [GRCh38] Chr11:76916624 [GRCh37] Chr11:11q13.5 |
benign|likely benign |
NM_000260.4(MYO7A):c.5573T>C (p.Leu1858Pro) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 11 [RCV000763283]|Autosomal recessive nonsyndromic hearing loss 2 [RCV000668342]|MYO7A-Related Disorders [RCV000779082]|MYO7A-related condition [RCV003407403]|Rare genetic deafness [RCV000036193]|Usher syndrome type 1B [RCV001273514]|not provided [RCV001268401] |
Chr11:77205554 [GRCh38] Chr11:76916599 [GRCh37] Chr11:11q13.5 |
pathogenic|likely pathogenic |
NM_000260.4(MYO7A):c.5598C>T (p.Leu1866=) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 11 [RCV000322968]|Autosomal recessive nonsyndromic hearing loss 2 [RCV000382284]|Usher syndrome type 1 [RCV000287528]|Usher syndrome type 1B [RCV001826552]|not provided [RCV000956982]|not specified [RCV000036195] |
Chr11:77205579 [GRCh38] Chr11:76916624 [GRCh37] Chr11:11q13.5 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_000260.4(MYO7A):c.5617C>T (p.Arg1873Trp) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 2 [RCV000668897]|Rare genetic deafness [RCV000036196]|Usher syndrome [RCV003323370]|Usher syndrome type 1B [RCV001826553]|not provided [RCV001069199] |
Chr11:77205598 [GRCh38] Chr11:76916643 [GRCh37] Chr11:11q13.5 |
pathogenic|likely pathogenic |
NM_000260.4(MYO7A):c.5618G>A (p.Arg1873Gln) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 11 [RCV002504884]|Autosomal recessive nonsyndromic hearing loss 2 [RCV000672711]|Rare genetic deafness [RCV000036197]|Usher syndrome [RCV001089676]|not provided [RCV000594226] |
Chr11:77205599 [GRCh38] Chr11:76916644 [GRCh37] Chr11:11q13.5 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
NM_000260.4(MYO7A):c.5619G>A (p.Arg1873=) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 11 [RCV000383003]|Autosomal recessive nonsyndromic hearing loss 2 [RCV000293847]|Usher syndrome type 1 [RCV000328473]|Usher syndrome type 1B [RCV001273515]|not provided [RCV001518734]|not specified [RCV000036198] |
Chr11:77205600 [GRCh38] Chr11:76916645 [GRCh37] Chr11:11q13.5 |
benign|likely benign|uncertain significance |
NM_000260.4(MYO7A):c.5648G>A (p.Arg1883Gln) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 2 [RCV000983988]|Rare genetic deafness [RCV000844722]|Usher syndrome type 1 [RCV000036199]|Usher syndrome type 1B [RCV001273516]|not provided [RCV000413954] |
Chr11:77206108 [GRCh38] Chr11:76917153 [GRCh37] Chr11:11q13.5 |
pathogenic|likely pathogenic|uncertain significance |
NM_000260.4(MYO7A):c.5660C>T (p.Pro1887Leu) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 2 [RCV000669133]|Hearing loss, autosomal recessive [RCV001291104]|Rare genetic deafness [RCV000036200]|Usher syndrome type 1 [RCV001376326]|not provided [RCV001223334] |
Chr11:77206120 [GRCh38] Chr11:76917165 [GRCh37] Chr11:11q13.5 |
pathogenic|likely pathogenic |
NM_000260.4(MYO7A):c.5715A>G (p.Lys1905=) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 11 [RCV000326880]|Autosomal recessive nonsyndromic hearing loss 2 [RCV000361573]|Usher syndrome type 1 [RCV000266939]|Usher syndrome type 1B [RCV001275523]|not provided [RCV001512277]|not specified [RCV000036201] |
Chr11:77206175 [GRCh38] Chr11:76917220 [GRCh37] Chr11:11q13.5 |
benign |
NM_000260.4(MYO7A):c.5743-12T>C |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 11 [RCV000273031]|Autosomal recessive nonsyndromic hearing loss 2 [RCV000328089]|Usher syndrome type 1 [RCV000362954]|not provided [RCV001519506]|not specified [RCV000036202] |
Chr11:77207277 [GRCh38] Chr11:76918322 [GRCh37] Chr11:11q13.5 |
benign |
NM_000260.4(MYO7A):c.5804T>C (p.Leu1935Pro) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 2 [RCV000675068]|Rare genetic deafness [RCV000036203]|Retinal dystrophy [RCV001074201]|Usher syndrome [RCV001252670]|not provided [RCV002513375] |
Chr11:77207350 [GRCh38] Chr11:76918395 [GRCh37] Chr11:11q13.5 |
likely pathogenic|uncertain significance |
NM_000260.4(MYO7A):c.5824G>A (p.Gly1942Arg) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 2 [RCV000671433]|MYO7A-Related Disorders [RCV001095699]|Usher syndrome [RCV003389444]|Usher syndrome type 1B [RCV001826554]|not provided [RCV001531119]|not specified [RCV000036204] |
Chr11:77207370 [GRCh38] Chr11:76918415 [GRCh37] Chr11:11q13.5 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
NM_000260.4(MYO7A):c.5824G>T (p.Gly1942Ter) |
single nucleotide variant |
MYO7A-Related Disorders [RCV000388623]|Rare genetic deafness [RCV000036205]|Usher syndrome type 1 [RCV000665920]|Usher syndrome type 1B [RCV001831641]|not provided [RCV001204875] |
Chr11:77207370 [GRCh38] Chr11:76918415 [GRCh37] Chr11:11q13.5 |
pathogenic|likely pathogenic |
NM_000260.4(MYO7A):c.582del (p.Ile195fs) |
deletion |
Rare genetic deafness [RCV000036206] |
Chr11:77156767 [GRCh38] Chr11:76867813 [GRCh37] Chr11:11q13.5 |
pathogenic |
NM_000260.4(MYO7A):c.5835C>T (p.Leu1945=) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 11 [RCV000406804]|Autosomal recessive nonsyndromic hearing loss 2 [RCV000278156]|Usher syndrome type 1 [RCV000335511]|Usher syndrome type 1B [RCV001275524]|not provided [RCV000879812]|not specified [RCV000036207] |
Chr11:77207381 [GRCh38] Chr11:76918426 [GRCh37] Chr11:11q13.5 |
benign|likely benign |
NM_000260.4(MYO7A):c.5857-7A>T |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 11 [RCV000306203]|Autosomal recessive nonsyndromic hearing loss 2 [RCV000404086]|Usher syndrome type 1 [RCV000344672]|Usher syndrome type 1B [RCV001275525]|not provided [RCV001512278]|not specified [RCV000036208] |
Chr11:77208423 [GRCh38] Chr11:76919468 [GRCh37] Chr11:11q13.5 |
benign |
NM_000260.4(MYO7A):c.5860C>A (p.Leu1954Ile) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 11 [RCV000309473]|Autosomal recessive nonsyndromic hearing loss 2 [RCV000988616]|Usher syndrome type 1 [RCV000366542]|Usher syndrome type 1B [RCV001275527]|not provided [RCV001512279]|not specified [RCV000036209] |
Chr11:77208433 [GRCh38] Chr11:76919478 [GRCh37] Chr11:11q13.5 |
benign |
NM_000260.4(MYO7A):c.5866G>A (p.Val1956Ile) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 11 [RCV000312785]|Autosomal recessive nonsyndromic hearing loss 2 [RCV000369786]|Autosomal recessive nonsyndromic hearing loss 2 [RCV000669735]|Usher syndrome type 1 [RCV000277461]|Usher syndrome type 1B [RCV001831642]|not provided [RCV000963284]|not specified [RCV000036210] |
Chr11:77208439 [GRCh38] Chr11:76919484 [GRCh37] Chr11:11q13.5 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_000260.4(MYO7A):c.587T>C (p.Leu196Pro) |
single nucleotide variant |
Rare genetic deafness [RCV000036211] |
Chr11:77156776 [GRCh38] Chr11:76867822 [GRCh37] Chr11:11q13.5 |
likely pathogenic |
NM_000260.4(MYO7A):c.593-5C>T |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 11 [RCV000354554]|Autosomal recessive nonsyndromic hearing loss 2 [RCV000305167]|Usher syndrome type 1 [RCV000396780]|Usher syndrome type 1B [RCV001275894]|not provided [RCV000992405]|not specified [RCV000036212] |
Chr11:77156857 [GRCh38] Chr11:76867903 [GRCh37] Chr11:11q13.5 |
benign|likely benign |
NM_000260.4(MYO7A):c.5880CTT[2] (p.Phe1963del) |
microsatellite |
Autosomal recessive nonsyndromic hearing loss 2 [RCV003326334]|Rare genetic deafness [RCV000036213]|Usher syndrome type 1 [RCV001376327]|Usher syndrome type 1B [RCV001831643]|not provided [RCV001064922] |
Chr11:77208453..77208455 [GRCh38] Chr11:76919498..76919500 [GRCh37] Chr11:11q13.5 |
pathogenic|likely pathogenic |
NM_000260.4(MYO7A):c.5904C>T (p.His1968=) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 11 [RCV000341592]|Autosomal recessive nonsyndromic hearing loss 2 [RCV000284213]|Usher syndrome type 1 [RCV000376857]|Usher syndrome type 1B [RCV001272817]|not provided [RCV000898379]|not specified [RCV000036214] |
Chr11:77208477 [GRCh38] Chr11:76919522 [GRCh37] Chr11:11q13.5 |
benign|likely benign|uncertain significance |
NM_000260.4(MYO7A):c.5945G>A (p.Gly1982Glu) |
single nucleotide variant |
Rare genetic deafness [RCV000036215] |
Chr11:77208697 [GRCh38] Chr11:76919742 [GRCh37] Chr11:11q13.5 |
likely pathogenic |
NM_000260.4(MYO7A):c.6013A>G (p.Lys2005Glu) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 11 [RCV001334339]|not provided [RCV000916924]|not specified [RCV000036216] |
Chr11:77208765 [GRCh38] Chr11:76919810 [GRCh37] Chr11:11q13.5 |
likely benign|uncertain significance |
NM_000260.4(MYO7A):c.6025G>A (p.Ala2009Thr) |
single nucleotide variant |
not provided [RCV001362557]|not specified [RCV000036217] |
Chr11:77208777 [GRCh38] Chr11:76919822 [GRCh37] Chr11:11q13.5 |
likely pathogenic|uncertain significance |
NM_000260.4(MYO7A):c.6025del (p.Ala2009fs) |
deletion |
Autosomal dominant nonsyndromic hearing loss 11 [RCV002477080]|Autosomal recessive nonsyndromic hearing loss 2 [RCV000984197]|Rare genetic deafness [RCV000844724]|Retinal dystrophy [RCV001075853]|Usher syndrome type 1 [RCV000036218]|Usher syndrome type 1B [RCV001275528]|not provided [RCV001046525] |
Chr11:77208776 [GRCh38] Chr11:76919821 [GRCh37] Chr11:11q13.5 |
pathogenic |
NM_000260.4(MYO7A):c.6029A>G (p.Asp2010Gly) |
single nucleotide variant |
Rare genetic deafness [RCV000036219] |
Chr11:77208781 [GRCh38] Chr11:76919826 [GRCh37] Chr11:11q13.5 |
pathogenic |
NM_000260.4(MYO7A):c.6051+17T>A |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 11 [RCV001533374]|Autosomal recessive nonsyndromic hearing loss 2 [RCV001533375]|Usher syndrome type 1 [RCV001533376]|not provided [RCV001513065]|not specified [RCV000036220] |
Chr11:77208820 [GRCh38] Chr11:76919865 [GRCh37] Chr11:11q13.5 |
benign |
NM_000260.4(MYO7A):c.6052-11G>C |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 11 [RCV000405948]|Autosomal recessive nonsyndromic hearing loss 2 [RCV000313677]|Usher syndrome type 1 [RCV000370790]|not provided [RCV001519572]|not specified [RCV000036221] |
Chr11:77211141 [GRCh38] Chr11:76922186 [GRCh37] Chr11:11q13.5 |
benign|likely benign |
NM_000260.4(MYO7A):c.6063G>A (p.Lys2021=) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 11 [RCV000298298]|Autosomal recessive nonsyndromic hearing loss 2 [RCV000355553]|Usher syndrome type 1 [RCV000259772]|Usher syndrome type 1B [RCV001275530]|not provided [RCV000992406]|not specified [RCV000036222] |
Chr11:77211163 [GRCh38] Chr11:76922208 [GRCh37] Chr11:11q13.5 |
benign|likely benign |
NM_000260.4(MYO7A):c.6070C>T (p.Arg2024Ter) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 11 [RCV002496554]|Autosomal recessive nonsyndromic hearing loss 2 [RCV000665987]|Rare genetic deafness [RCV000844725]|Usher syndrome type 1 [RCV000036223]|not provided [RCV001210670] |
Chr11:77211170 [GRCh38] Chr11:76922215 [GRCh37] Chr11:11q13.5 |
pathogenic|not provided |
NM_000260.4(MYO7A):c.6165C>T (p.Ser2055=) |
single nucleotide variant |
Usher syndrome type 1B [RCV001272821]|not provided [RCV000726540]|not specified [RCV000036224] |
Chr11:77211265 [GRCh38] Chr11:76922310 [GRCh37] Chr11:11q13.5 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_000260.4(MYO7A):c.6173A>G (p.Lys2058Arg) |
single nucleotide variant |
not provided [RCV001852750]|not specified [RCV000036225] |
Chr11:77211273 [GRCh38] Chr11:76922318 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.6209G>A (p.Arg2070Gln) |
single nucleotide variant |
Usher syndrome type 1B [RCV001831644]|not provided [RCV001038973]|not specified [RCV000036226] |
Chr11:77211309 [GRCh38] Chr11:76922354 [GRCh37] Chr11:11q13.5 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_000260.4(MYO7A):c.6214G>A (p.Val2072Ile) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 11 [RCV000320711]|Autosomal recessive nonsyndromic hearing loss 2 [RCV000263244]|Usher syndrome type 1 [RCV000379059]|not provided [RCV000515066]|not specified [RCV000036227] |
Chr11:77211314 [GRCh38] Chr11:76922359 [GRCh37] Chr11:11q13.5 |
benign|likely benign|uncertain significance |
NM_000260.4(MYO7A):c.6240C>T (p.Ser2080=) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 11 [RCV000325505]|Autosomal recessive nonsyndromic hearing loss 2 [RCV000268189]|Usher syndrome type 1 [RCV000382464]|Usher syndrome type 1B [RCV001275534]|not provided [RCV000992407]|not specified [RCV000036228] |
Chr11:77211823 [GRCh38] Chr11:76922868 [GRCh37] Chr11:11q13.5 |
benign|likely benign |
NM_000260.4(MYO7A):c.6318G>A (p.Lys2106=) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 11 [RCV000393809]|Autosomal recessive nonsyndromic hearing loss 2 [RCV000294154]|Usher syndrome type 1 [RCV000351446]|Usher syndrome type 1B [RCV001275535]|not provided [RCV001512280]|not specified [RCV000036229] |
Chr11:77211901 [GRCh38] Chr11:76922946 [GRCh37] Chr11:11q13.5 |
benign|likely benign |
NM_000260.4(MYO7A):c.631A>G (p.Ser211Gly) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 11 [RCV002496555]|Autosomal recessive nonsyndromic hearing loss 2 [RCV000675104]|Retinal dystrophy [RCV001073506]|Usher syndrome [RCV000036230]|Usher syndrome type 1B [RCV001275896]|not provided [RCV001852751] |
Chr11:77156900 [GRCh38] Chr11:76867946 [GRCh37] Chr11:11q13.5 |
pathogenic|likely pathogenic|uncertain significance |
NM_000260.4(MYO7A):c.6345C>T (p.Phe2115=) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 2 [RCV000668733]|not provided [RCV001465033]|not specified [RCV000036231] |
Chr11:77211928 [GRCh38] Chr11:76922973 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.640G>A (p.Gly214Arg) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 11 [RCV000515404]|Autosomal recessive nonsyndromic hearing loss 2 [RCV000667735]|Rare genetic deafness [RCV000036233]|Usher syndrome [RCV003389445]|Usher syndrome type 1 [RCV001003080]|Usher syndrome type 1B [RCV001835646]|not provided [RCV000724325] |
Chr11:77156909 [GRCh38] Chr11:76867955 [GRCh37] Chr11:11q13.5 |
pathogenic|likely pathogenic |
NM_000260.4(MYO7A):c.6424G>A (p.Asp2142Asn) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 11 [RCV000278212]|Autosomal recessive nonsyndromic hearing loss 2 [RCV000335582]|Usher syndrome type 1 [RCV000393795]|Usher syndrome type 1B [RCV001275536]|not provided [RCV001512228]|not specified [RCV000036234] |
Chr11:77213021 [GRCh38] Chr11:76924066 [GRCh37] Chr11:11q13.5 |
benign|likely benign |
NM_000260.4(MYO7A):c.6439-2A>G |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 2 [RCV000664694]|MYO7A-Related Disorders [RCV000778156]|Rare genetic deafness [RCV000036235]|Usher syndrome type 1B [RCV001275537]|not provided [RCV001208546] |
Chr11:77213858 [GRCh38] Chr11:76924903 [GRCh37] Chr11:11q13.5 |
pathogenic|likely pathogenic |
NM_000260.4(MYO7A):c.6498C>A (p.Tyr2166Ter) |
single nucleotide variant |
Rare genetic deafness [RCV000036236] |
Chr11:77213919 [GRCh38] Chr11:76924964 [GRCh37] Chr11:11q13.5 |
pathogenic |
NM_000260.4(MYO7A):c.6519C>T (p.Asn2173=) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 11 [RCV000357524]|Autosomal recessive nonsyndromic hearing loss 2 [RCV000300484]|Usher syndrome type 1 [RCV000402816]|Usher syndrome type 1B [RCV001831645]|not provided [RCV000992408]|not specified [RCV000036237] |
Chr11:77213940 [GRCh38] Chr11:76924985 [GRCh37] Chr11:11q13.5 |
benign|likely benign|uncertain significance |
NM_000260.4(MYO7A):c.6558+16G>A |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 11 [RCV001533408]|Autosomal recessive nonsyndromic hearing loss 2 [RCV001533409]|Usher syndrome type 1 [RCV001533410]|not provided [RCV001513066]|not specified [RCV000036238] |
Chr11:77213995 [GRCh38] Chr11:76925040 [GRCh37] Chr11:11q13.5 |
benign |
NM_000260.4(MYO7A):c.6558+9G>A |
single nucleotide variant |
not provided [RCV000900251]|not specified [RCV000036239] |
Chr11:77213988 [GRCh38] Chr11:76925033 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.6559-11C>T |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 11 [RCV000304974]|Autosomal recessive nonsyndromic hearing loss 2 [RCV000269774]|Usher syndrome type 1 [RCV000361935]|not provided [RCV001513137]|not specified [RCV000036240] |
Chr11:77214596 [GRCh38] Chr11:76925641 [GRCh37] Chr11:11q13.5 |
benign|likely benign |
NM_000260.4(MYO7A):c.6560G>A (p.Gly2187Asp) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 2 [RCV000675126]|Usher syndrome [RCV000036241]|Usher syndrome type 1B [RCV001275540] |
Chr11:77214608 [GRCh38] Chr11:76925653 [GRCh37] Chr11:11q13.5 |
likely pathogenic|uncertain significance |
NM_000260.4(MYO7A):c.6570G>A (p.Met2190Ile) |
single nucleotide variant |
Usher syndrome type 1B [RCV001835647]|not provided [RCV001770054]|not specified [RCV000036242] |
Chr11:77214618 [GRCh38] Chr11:76925663 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.6577C>T (p.Leu2193Phe) |
single nucleotide variant |
Usher syndrome type 1B [RCV001826555]|not specified [RCV000036243] |
Chr11:77214625 [GRCh38] Chr11:76925670 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.6640G>A (p.Gly2214Ser) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 11 [RCV000387468]|Autosomal recessive nonsyndromic hearing loss 2 [RCV000330682]|Meniere disease [RCV001526689]|Usher syndrome type 1 [RCV000295167]|Usher syndrome type 1B [RCV001275541]|not provided [RCV000224230]|not specified [RCV000036244] |
Chr11:77214688 [GRCh38] Chr11:76925733 [GRCh37] Chr11:11q13.5 |
benign|likely benign |
NM_000260.4(MYO7A):c.687C>T (p.Gly229=) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 11 [RCV001111838]|Autosomal recessive nonsyndromic hearing loss 2 [RCV001109574]|Usher syndrome type 1 [RCV001111839]|Usher syndrome type 1B [RCV001831646]|not provided [RCV000906062]|not specified [RCV000036245] |
Chr11:77156956 [GRCh38] Chr11:76868002 [GRCh37] Chr11:11q13.5 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_000260.4(MYO7A):c.722G>A (p.Arg241His) |
single nucleotide variant |
Hearing loss, autosomal recessive [RCV001291466]|Inborn genetic diseases [RCV000622429]|Rare genetic deafness [RCV000036247]|Usher syndrome [RCV003323371]|not provided [RCV001852752] |
Chr11:77156991 [GRCh38] Chr11:76868037 [GRCh37] Chr11:11q13.5 |
pathogenic|likely pathogenic |
NM_000260.4(MYO7A):c.72C>T (p.Ile24=) |
single nucleotide variant |
not provided [RCV001414978]|not specified [RCV000036248] |
Chr11:77142762 [GRCh38] Chr11:76853808 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.736-15_736-4dup |
duplication |
not provided [RCV000224378]|not specified [RCV000036249] |
Chr11:77157263..77157264 [GRCh38] Chr11:76868309..76868310 [GRCh37] Chr11:11q13.5 |
benign|likely benign |
NM_000260.4(MYO7A):c.783T>C (p.Gly261=) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 11 [RCV000359913]|Autosomal dominant nonsyndromic hearing loss 11 [RCV002496556]|Autosomal recessive nonsyndromic hearing loss 2 [RCV000265255]|Usher syndrome type 1 [RCV000320317]|Usher syndrome type 1B [RCV001275898]|not provided [RCV001512275]|not specified [RCV000036250] |
Chr11:77157326 [GRCh38] Chr11:76868372 [GRCh37] Chr11:11q13.5 |
benign |
NM_000260.4(MYO7A):c.93C>T (p.Cys31=) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 11 [RCV000331379]|Autosomal recessive nonsyndromic hearing loss 2 [RCV000357024]|Usher syndrome type 1 [RCV000273950]|Usher syndrome type 1B [RCV001275884]|not provided [RCV000960115]|not specified [RCV000036252] |
Chr11:77142783 [GRCh38] Chr11:76853829 [GRCh37] Chr11:11q13.5 |
benign|likely benign |
NM_000260.4(MYO7A):c.999T>G (p.Tyr333Ter) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 2 [RCV000670120]|Rare genetic deafness [RCV000036253]|Retinal dystrophy [RCV001075598]|Usher syndrome type 1B [RCV001275899]|not provided [RCV000421042] |
Chr11:77158426 [GRCh38] Chr11:76869472 [GRCh37] Chr11:11q13.5 |
pathogenic |
NM_000260.4(MYO7A):c.3474C>T (p.Ile1158=) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 11 [RCV001110260]|Autosomal recessive nonsyndromic hearing loss 2 [RCV000664754]|Autosomal recessive nonsyndromic hearing loss 2 [RCV001110259]|Usher syndrome type 1 [RCV001110261]|not provided [RCV000910290]|not specified [RCV000036930] |
Chr11:77184686 [GRCh38] Chr11:76895731 [GRCh37] Chr11:11q13.5 |
benign|likely benign|uncertain significance |
GRCh38/hg38 11q13.4-14.1(chr11:71923251-79662025)x1 |
copy number loss |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052684]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052684]|See cases [RCV000052684] |
Chr11:71923251..79662025 [GRCh38] Chr11:71634297..79373069 [GRCh37] Chr11:71311945..79050717 [NCBI36] Chr11:11q13.4-14.1 |
pathogenic |
GRCh38/hg38 11q13.4-14.1(chr11:71969881-78232895)x1 |
copy number loss |
See cases [RCV000052709] |
Chr11:71969881..78232895 [GRCh38] Chr11:71680927..77943941 [GRCh37] Chr11:71358575..77621589 [NCBI36] Chr11:11q13.4-14.1 |
pathogenic |
NM_000260.4(MYO7A):c.1324G>A (p.Glu442Lys) |
single nucleotide variant |
Malignant melanoma [RCV000069701] |
Chr11:77161096 [GRCh38] Chr11:76872142 [GRCh37] Chr11:76549790 [NCBI36] Chr11:11q13.5 |
uncertain significance|not provided |
NM_000260.4(MYO7A):c.5166C>T (p.Phe1722=) |
single nucleotide variant |
not provided [RCV000658005] |
Chr11:77202422 [GRCh38] Chr11:76913467 [GRCh37] Chr11:11q13.5 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_000260.4(MYO7A):c.779A>C (p.Glu260Ala) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 11 [RCV000660470]|Usher syndrome type 1B [RCV001278608] |
Chr11:77157322 [GRCh38] Chr11:76868368 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.5637-173C>T |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 2 [RCV000673259] |
Chr11:77205924 [GRCh38] Chr11:76916969 [GRCh37] Chr11:11q13.5 |
likely benign|uncertain significance |
NM_000260.4(MYO7A):c.3728dup (p.Pro1244fs) |
duplication |
Rare genetic deafness [RCV000036123]|Usher syndrome [RCV003155050]|not provided [RCV001388466] |
Chr11:77190115..77190116 [GRCh38] Chr11:76901160..76901161 [GRCh37] Chr11:11q13.5 |
pathogenic|likely pathogenic |
NM_000260.4(MYO7A):c.397dup (p.His133fs) |
duplication |
Autosomal recessive nonsyndromic hearing loss 2 [RCV000409086]|Hearing loss, autosomal recessive [RCV001291464]|MYO7A-related condition [RCV003415767]|Rare genetic deafness [RCV000844713]|Usher syndrome [RCV003324501]|Usher syndrome type 1 [RCV000036133]|not provided [RCV001212883] |
Chr11:77156011..77156012 [GRCh38] Chr11:76867057..76867058 [GRCh37] Chr11:11q13.5 |
pathogenic|likely pathogenic |
NM_000260.4(MYO7A):c.5208dup (p.Lys1737fs) |
duplication |
Rare genetic deafness [RCV000036180]|Retinal dystrophy [RCV001073537]|not provided [RCV001291607] |
Chr11:77203097..77203098 [GRCh38] Chr11:76914142..76914143 [GRCh37] Chr11:11q13.5 |
pathogenic|likely pathogenic |
NM_000260.4(MYO7A):c.5581dup (p.Arg1861fs) |
duplication |
Rare genetic deafness [RCV000036194] |
Chr11:77205559..77205560 [GRCh38] Chr11:76916604..76916605 [GRCh37] Chr11:11q13.5 |
pathogenic |
NM_000260.4(MYO7A):c.4441+19T>C |
single nucleotide variant |
not provided [RCV001457844]|not specified [RCV000127056] |
Chr11:77197617 [GRCh38] Chr11:76908662 [GRCh37] Chr11:11q13.5 |
benign|likely benign |
NM_000260.4(MYO7A):c.5043+20C>T |
single nucleotide variant |
not provided [RCV001520331]|not specified [RCV000127058] |
Chr11:77201658 [GRCh38] Chr11:76912703 [GRCh37] Chr11:11q13.5 |
benign |
NM_000260.4(MYO7A):c.5743-17C>T |
single nucleotide variant |
not provided [RCV001523754]|not specified [RCV000127061] |
Chr11:77207272 [GRCh38] Chr11:76918317 [GRCh37] Chr11:11q13.5 |
benign |
NM_000260.4(MYO7A):c.2462A>G (p.Gln821Arg) |
single nucleotide variant |
not provided [RCV003223971] |
Chr11:77179829 [GRCh38] Chr11:76890875 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.2489G>A (p.Arg830His) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 11 [RCV000307060]|Autosomal dominant nonsyndromic hearing loss 11 [RCV000765014]|Autosomal recessive nonsyndromic hearing loss 2 [RCV000365276]|Autosomal recessive nonsyndromic hearing loss 2 [RCV000675124]|Usher syndrome type 1 [RCV000395526]|Usher syndrome type 1B [RCV001831992]|not provided [RCV000171199] |
Chr11:77179856 [GRCh38] Chr11:76890902 [GRCh37] Chr11:11q13.5 |
likely pathogenic|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_000260.4(MYO7A):c.3502C>T (p.Arg1168Trp) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 11 [RCV000790513]|Autosomal recessive nonsyndromic hearing loss 2 [RCV000668846]|Hearing loss, autosomal recessive [RCV001291475]|MYO7A-related condition [RCV003420184]|not provided [RCV001242948] |
Chr11:77184714 [GRCh38] Chr11:76895759 [GRCh37] Chr11:11q13.5 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
NM_000260.3(MYO7A):c.3586_3587delTC (p.Cys1198Argfs) |
deletion |
not provided [RCV000171464] |
Chr11:77189426..77189427 [GRCh38] Chr11:76900471..76900472 [GRCh37] Chr11:11q13.5 |
likely pathogenic |
NM_000260.4(MYO7A):c.5968C>T (p.Gln1990Ter) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 2 [RCV000667070]|not provided [RCV000178544] |
Chr11:77208720 [GRCh38] Chr11:76919765 [GRCh37] Chr11:11q13.5 |
pathogenic|likely pathogenic |
NM_000260.4(MYO7A):c.5324T>C (p.Ile1775Thr) |
single nucleotide variant |
not provided [RCV000430461]|not specified [RCV000177929] |
Chr11:77203215 [GRCh38] Chr11:76914260 [GRCh37] Chr11:11q13.5 |
benign|likely benign|conflicting interpretations of pathogenicity |
NM_000260.4(MYO7A):c.696T>C (p.Ile232=) |
single nucleotide variant |
not provided [RCV001494145] |
Chr11:77156965 [GRCh38] Chr11:76868011 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.4413C>T (p.Ser1471=) |
single nucleotide variant |
not provided [RCV003221553] |
Chr11:77197570 [GRCh38] Chr11:76908615 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.3262C>T (p.Gln1088Ter) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 2 [RCV000410532]|Usher syndrome type 1 [RCV000408981]|not provided [RCV001850975] |
Chr11:77182577 [GRCh38] Chr11:76893622 [GRCh37] Chr11:11q13.5 |
pathogenic|likely pathogenic |
NM_000260.4(MYO7A):c.3375+153A>T |
single nucleotide variant |
not provided [RCV001572610] |
Chr11:77183310 [GRCh38] Chr11:76894355 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.1977del (p.Gly660fs) |
deletion |
Usher syndrome [RCV000504671] |
Chr11:77174797 [GRCh38] Chr11:76885843 [GRCh37] Chr11:11q13.5 |
likely pathogenic |
NM_000260.4(MYO7A):c.3109-128G>A |
single nucleotide variant |
not provided [RCV001565168] |
Chr11:77182296 [GRCh38] Chr11:76893341 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.3850T>C (p.Cys1284Arg) |
single nucleotide variant |
not provided [RCV001348934] |
Chr11:77190796 [GRCh38] Chr11:76901841 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.6122T>C (p.Ile2041Thr) |
single nucleotide variant |
Usher syndrome type 1B [RCV001825949]|not provided [RCV001349080] |
Chr11:77211222 [GRCh38] Chr11:76922267 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.289T>C (p.Tyr97His) |
single nucleotide variant |
not provided [RCV001348120] |
Chr11:77155910 [GRCh38] Chr11:76866956 [GRCh37] Chr11:11q13.5 |
uncertain significance |
GRCh38/hg38 11q13.5-22.1(chr11:75941754-98357960)x1 |
copy number loss |
See cases [RCV000133838] |
Chr11:75941754..98357960 [GRCh38] Chr11:75652798..98228688 [GRCh37] Chr11:75330446..97733898 [NCBI36] Chr11:11q13.5-22.1 |
pathogenic |
NM_000260.4(MYO7A):c.2025C>T (p.Arg675=) |
single nucleotide variant |
Usher syndrome type 1B [RCV001276684]|not provided [RCV000175132] |
Chr11:77174845 [GRCh38] Chr11:76885891 [GRCh37] Chr11:11q13.5 |
conflicting interpretations of pathogenicity|uncertain significance |
GRCh38/hg38 11q13.5(chr11:77104062-77324724)x1 |
copy number loss |
See cases [RCV000137098] |
Chr11:77104062..77324724 [GRCh38] Chr11:76900813..77035769 [GRCh37] Chr11:76492756..76713417 [NCBI36] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.4667C>T (p.Pro1556Leu) |
single nucleotide variant |
not provided [RCV000914325]|not specified [RCV000202958] |
Chr11:77199633 [GRCh38] Chr11:76910678 [GRCh37] Chr11:11q13.5 |
likely benign|uncertain significance |
NM_000260.4(MYO7A):c.4171C>G (p.Leu1391Val) |
single nucleotide variant |
Usher syndrome type 1B [RCV001279800]|not specified [RCV000155768] |
Chr11:77194372 [GRCh38] Chr11:76905417 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.689C>T (p.Ala230Val) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 11 [RCV000225087]|Bilateral sensorineural hearing impairment [RCV001254945]|MYO7A-related condition [RCV003398811]|Rare genetic deafness [RCV000155771]|not provided [RCV001850134]|not specified [RCV000506187] |
Chr11:77156958 [GRCh38] Chr11:76868004 [GRCh37] Chr11:11q13.5 |
pathogenic|likely pathogenic |
NM_000260.4(MYO7A):c.3564_3571delinsA (p.Tyr1188_Gly1191delinsTer) |
indel |
Rare genetic deafness [RCV000155845] |
Chr11:77189404..77189411 [GRCh38] Chr11:76900449..76900456 [GRCh37] Chr11:11q13.5 |
pathogenic |
NM_000260.4(MYO7A):c.765C>T (p.Phe255=) |
single nucleotide variant |
not specified [RCV000155853] |
Chr11:77157308 [GRCh38] Chr11:76868354 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.3669C>T (p.Tyr1223=) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 2 [RCV000666779]|not provided [RCV001395864]|not specified [RCV000155891] |
Chr11:77190058 [GRCh38] Chr11:76901103 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.1903T>C (p.Cys635Arg) |
single nucleotide variant |
not provided [RCV001347350]|not specified [RCV000155931] |
Chr11:77172853 [GRCh38] Chr11:76883899 [GRCh37] Chr11:11q13.5 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_000260.4(MYO7A):c.1726G>A (p.Asp576Asn) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 2 [RCV000666745]|not provided [RCV001033976]|not specified [RCV000151488] |
Chr11:77166091 [GRCh38] Chr11:76877137 [GRCh37] Chr11:11q13.5 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_000260.4(MYO7A):c.3659C>T (p.Pro1220Leu) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 11 [RCV001113007]|Autosomal dominant nonsyndromic hearing loss 11 [RCV002505174]|Autosomal recessive nonsyndromic hearing loss 2 [RCV000988611]|Usher syndrome type 1 [RCV001113006]|Usher syndrome type 1B [RCV001272513]|not provided [RCV001054597]|not specified [RCV000155994] |
Chr11:77190048 [GRCh38] Chr11:76901093 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.3(MYO7A):c.(?_6355)_(6648_?)del |
deletion |
Rare genetic deafness [RCV000156116] |
Chr11:77212952..77214696 [GRCh38] Chr11:76923997..76925741 [GRCh37] Chr11:11q13.5 |
pathogenic |
NM_000260.4(MYO7A):c.6243C>A (p.Ile2081=) |
single nucleotide variant |
Usher syndrome type 1B [RCV001835698]|not specified [RCV000156175] |
Chr11:77211826 [GRCh38] Chr11:76922871 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.4153-8C>G |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 2 [RCV000664878]|Usher syndrome type 1B [RCV001271757]|not provided [RCV001476029]|not specified [RCV000156221] |
Chr11:77194346 [GRCh38] Chr11:76905391 [GRCh37] Chr11:11q13.5 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_000260.4(MYO7A):c.3503G>A (p.Arg1168Gln) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 2 [RCV000675162]|Inborn genetic diseases [RCV000623408]|Usher syndrome [RCV001004779]|not provided [RCV001091732]|not specified [RCV000156269] |
Chr11:77184715 [GRCh38] Chr11:76895760 [GRCh37] Chr11:11q13.5 |
pathogenic|likely pathogenic|uncertain significance |
NM_000260.4(MYO7A):c.3472A>G (p.Ile1158Val) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 2 [RCV000671980]|not provided [RCV002516332]|not specified [RCV000156304] |
Chr11:77184684 [GRCh38] Chr11:76895729 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.849+7C>G |
single nucleotide variant |
not provided [RCV000724827]|not specified [RCV000156311] |
Chr11:77157399 [GRCh38] Chr11:76868445 [GRCh37] Chr11:11q13.5 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_000260.4(MYO7A):c.5481-15C>T |
single nucleotide variant |
not provided [RCV002056126]|not specified [RCV000156358] |
Chr11:77205447 [GRCh38] Chr11:76916492 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.1A>G (p.Met1Val) |
single nucleotide variant |
Rare genetic deafness [RCV000156361]|Usher syndrome [RCV003398813]|Usher syndrome type 1 [RCV002463651] |
Chr11:77130635 [GRCh38] Chr11:76841681 [GRCh37] Chr11:11q13.5 |
pathogenic|likely pathogenic |
NM_000260.4(MYO7A):c.5172C>G (p.Pro1724=) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 11 [RCV000332953]|Autosomal recessive nonsyndromic hearing loss 2 [RCV000277884]|Usher syndrome type 1 [RCV000373643]|Usher syndrome type 1B [RCV001272807]|not provided [RCV000944578]|not specified [RCV000156425] |
Chr11:77203063 [GRCh38] Chr11:76914108 [GRCh37] Chr11:11q13.5 |
benign|likely benign|uncertain significance |
NM_000260.4(MYO7A):c.470+1G>A |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 2 [RCV000666967]|Rare genetic deafness [RCV000154316]|Usher syndrome type 1 [RCV001028034]|Usher syndrome type 1B [RCV001831959]|not provided [RCV002293422] |
Chr11:77156092 [GRCh38] Chr11:76867138 [GRCh37] Chr11:11q13.5 |
pathogenic |
NM_000260.4(MYO7A):c.73G>A (p.Gly25Arg) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 2 [RCV000674570]|Rare genetic deafness [RCV000154329]|Retinal dystrophy [RCV001073538]|Usher syndrome [RCV003330513]|Usher syndrome type 1B [RCV001831960]|not provided [RCV001224495] |
Chr11:77142763 [GRCh38] Chr11:76853809 [GRCh37] Chr11:11q13.5 |
pathogenic|likely pathogenic |
NM_000260.4(MYO7A):c.3979G>A (p.Glu1327Lys) |
single nucleotide variant |
Rare genetic deafness [RCV000154330]|Usher syndrome [RCV003479023]|Usher syndrome type 1B [RCV001826829]|not provided [RCV001850112] |
Chr11:77192105 [GRCh38] Chr11:76903150 [GRCh37] Chr11:11q13.5 |
pathogenic|likely pathogenic|uncertain significance |
NM_000260.4(MYO7A):c.77C>A (p.Ala26Glu) |
single nucleotide variant |
Rare genetic deafness [RCV000154340]|not provided [RCV002516104] |
Chr11:77142767 [GRCh38] Chr11:76853813 [GRCh37] Chr11:11q13.5 |
pathogenic|likely pathogenic |
NM_000260.4(MYO7A):c.2476G>A (p.Ala826Thr) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 11 [RCV000406568]|Autosomal dominant nonsyndromic hearing loss 11 [RCV000844912]|Autosomal recessive nonsyndromic hearing loss 2 [RCV003152592]|MYO7A-Related Disorders [RCV000303529]|Usher syndrome [RCV000787987]|Usher syndrome type 1 [RCV001003087]|Usher syndrome type 1B [RCV001272505]|not provided [RCV000994688]|not specified [RCV000154342] |
Chr11:77179843 [GRCh38] Chr11:76890889 [GRCh37] Chr11:11q13.5 |
pathogenic|likely pathogenic|benign|conflicting interpretations of pathogenicity|uncertain significance|not provided |
NM_000260.4(MYO7A):c.2863G>A (p.Gly955Ser) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 11 [RCV002478450]|Rare genetic deafness [RCV000154343]|not provided [RCV001222349] |
Chr11:77181548 [GRCh38] Chr11:76892594 [GRCh37] Chr11:11q13.5 |
pathogenic|likely pathogenic |
NM_000260.4(MYO7A):c.758A>G (p.His253Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV002515021]|Usher syndrome type 1B [RCV001826852]|not provided [RCV001571850]|not specified [RCV000156478] |
Chr11:77157301 [GRCh38] Chr11:76868347 [GRCh37] Chr11:11q13.5 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_000260.4(MYO7A):c.6231dup (p.Lys2078fs) |
duplication |
Rare genetic deafness [RCV000156543]|Usher syndrome type 1 [RCV003326124]|not provided [RCV001850162] |
Chr11:77211329..77211330 [GRCh38] Chr11:76922374..76922375 [GRCh37] Chr11:11q13.5 |
pathogenic |
NM_000260.4(MYO7A):c.5857-3C>A |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 2 [RCV000672871]|Usher syndrome type 1B [RCV001275526]|not provided [RCV001307978]|not specified [RCV000156568] |
Chr11:77208427 [GRCh38] Chr11:76919472 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.2421C>T (p.His807=) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 2 [RCV000665709]|not provided [RCV000929501]|not specified [RCV000156626] |
Chr11:77179788 [GRCh38] Chr11:76890834 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.514C>T (p.Leu172=) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 11 [RCV001112218]|Autosomal recessive nonsyndromic hearing loss 2 [RCV001112219]|Usher syndrome type 1 [RCV001112220]|not provided [RCV000939943]|not specified [RCV000156640] |
Chr11:77156703 [GRCh38] Chr11:76867749 [GRCh37] Chr11:11q13.5 |
benign|likely benign|uncertain significance |
NM_000260.4(MYO7A):c.1543A>C (p.Lys515Gln) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 11 [RCV001110523]|Autosomal recessive nonsyndromic hearing loss 2 [RCV000664469]|Autosomal recessive nonsyndromic hearing loss 2 [RCV001110522]|Usher syndrome type 1 [RCV001110524]|not provided [RCV000979350]|not specified [RCV000156665] |
Chr11:77162319 [GRCh38] Chr11:76873365 [GRCh37] Chr11:11q13.5 |
likely benign|uncertain significance |
NM_000260.4(MYO7A):c.3856G>A (p.Ala1286Thr) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 2 [RCV000666382]|Retinal dystrophy [RCV001073912]|Usher syndrome type 1B [RCV001273494]|not provided [RCV001314043]|not specified [RCV000151504] |
Chr11:77190802 [GRCh38] Chr11:76901847 [GRCh37] Chr11:11q13.5 |
likely benign|uncertain significance |
NM_000260.4(MYO7A):c.3892G>A (p.Gly1298Arg) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 2 [RCV001808416]|Rare genetic deafness [RCV000844721]|Usher syndrome type 1 [RCV000151505]|not provided [RCV001214273] |
Chr11:77190838 [GRCh38] Chr11:76901883 [GRCh37] Chr11:11q13.5 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
NM_000260.4(MYO7A):c.4153-11C>T |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 2 [RCV000672424]|not specified [RCV000151506] |
Chr11:77194343 [GRCh38] Chr11:76905388 [GRCh37] Chr11:11q13.5 |
likely benign|uncertain significance |
NM_000260.4(MYO7A):c.4441+7C>T |
single nucleotide variant |
Retinal dystrophy [RCV001073918]|Usher syndrome type 1B [RCV001271762]|not provided [RCV000724056]|not specified [RCV000151510] |
Chr11:77197605 [GRCh38] Chr11:76908650 [GRCh37] Chr11:11q13.5 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_000260.4(MYO7A):c.4488G>A (p.Thr1496=) |
single nucleotide variant |
not provided [RCV001770114]|not specified [RCV000151511] |
Chr11:77198541 [GRCh38] Chr11:76909586 [GRCh37] Chr11:11q13.5 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_000260.4(MYO7A):c.5504A>G (p.Glu1835Gly) |
single nucleotide variant |
not specified [RCV000151516] |
Chr11:77205485 [GRCh38] Chr11:76916530 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.6326C>T (p.Thr2109Ile) |
single nucleotide variant |
Rare genetic deafness [RCV000151522]|Usher syndrome [RCV001089684]|not provided [RCV000591925] |
Chr11:77211909 [GRCh38] Chr11:76922954 [GRCh37] Chr11:11q13.5 |
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
NM_000260.4(MYO7A):c.5169-5G>A |
single nucleotide variant |
Usher syndrome type 1B [RCV001272806]|not provided [RCV001521351]|not specified [RCV000156737] |
Chr11:77203055 [GRCh38] Chr11:76914100 [GRCh37] Chr11:11q13.5 |
benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_000260.4(MYO7A):c.287C>T (p.Thr96Met) |
single nucleotide variant |
Rare genetic deafness [RCV000156777]|not provided [RCV002516348] |
Chr11:77155908 [GRCh38] Chr11:76866954 [GRCh37] Chr11:11q13.5 |
likely pathogenic|uncertain significance |
NM_000260.4(MYO7A):c.4153-7C>A |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 2 [RCV000666882]|Usher syndrome type 1B [RCV001271758]|not provided [RCV000841788]|not specified [RCV000156864] |
Chr11:77194347 [GRCh38] Chr11:76905392 [GRCh37] Chr11:11q13.5 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_000260.4(MYO7A):c.3827C>T (p.Ser1276Leu) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 2 [RCV000675121]|Rare genetic deafness [RCV000155024]|Usher syndrome [RCV001171535]|not provided [RCV001850120] |
Chr11:77190773 [GRCh38] Chr11:76901818 [GRCh37] Chr11:11q13.5 |
likely pathogenic|uncertain significance |
NM_000260.4(MYO7A):c.3109-13_3109-12insTCTGGCCTCTGACATGTGCGC |
insertion |
not specified [RCV000155028] |
Chr11:77182406..77182407 [GRCh38] Chr11:76893456..76893457 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.448C>A (p.Arg150=) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 11 [RCV001115098]|Autosomal recessive nonsyndromic hearing loss 2 [RCV001109454]|Usher syndrome type 1 [RCV001115097]|Usher syndrome type 1B [RCV001274688]|not provided [RCV000487904]|not specified [RCV000155223] |
Chr11:77156069 [GRCh38] Chr11:76867115 [GRCh37] Chr11:11q13.5 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_000260.4(MYO7A):c.133-14C>T |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 11 [RCV000389307]|Autosomal recessive nonsyndromic hearing loss 2 [RCV000326626]|Usher syndrome type 1 [RCV000287875]|not provided [RCV001513645]|not specified [RCV000155224] |
Chr11:77147784 [GRCh38] Chr11:76858830 [GRCh37] Chr11:11q13.5 |
benign|likely benign|uncertain significance |
NM_000260.4(MYO7A):c.803A>G (p.Lys268Arg) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 11 [RCV001112307]|Autosomal recessive nonsyndromic hearing loss 2 [RCV001112308]|Usher syndrome type 1 [RCV001112309]|not provided [RCV000724234]|not specified [RCV000155225] |
Chr11:77157346 [GRCh38] Chr11:76868392 [GRCh37] Chr11:11q13.5 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_000260.4(MYO7A):c.1126A>G (p.Ile376Val) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 11 [RCV001111942]|Autosomal recessive nonsyndromic hearing loss 2 [RCV001111944]|Inborn genetic diseases [RCV002516123]|MYO7A-related condition [RCV003416009]|Usher syndrome type 1 [RCV001111943]|not provided [RCV001040160]|not specified [RCV000155226] |
Chr11:77160208 [GRCh38] Chr11:76871254 [GRCh37] Chr11:11q13.5 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_000260.4(MYO7A):c.1506G>A (p.Lys502=) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 2 [RCV000664693]|not provided [RCV001413576]|not specified [RCV000155227] |
Chr11:77162282 [GRCh38] Chr11:76873328 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.1554+7C>T |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 11 [RCV000342098]|Autosomal recessive nonsyndromic hearing loss 2 [RCV000287143]|Usher syndrome type 1 [RCV000402760]|Usher syndrome type 1B [RCV001275902]|not provided [RCV000903441]|not specified [RCV000155228] |
Chr11:77162337 [GRCh38] Chr11:76873383 [GRCh37] Chr11:11q13.5 |
likely benign|uncertain significance |
NM_000260.4(MYO7A):c.1587C>T (p.Asn529=) |
single nucleotide variant |
not provided [RCV000977245]|not specified [RCV000155229] |
Chr11:77162885 [GRCh38] Chr11:76873931 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.2587-14C>T |
single nucleotide variant |
not provided [RCV001513918]|not specified [RCV000155230] |
Chr11:77180360 [GRCh38] Chr11:76891406 [GRCh37] Chr11:11q13.5 |
benign |
NM_000260.4(MYO7A):c.3086A>G (p.His1029Arg) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 11 [RCV000388720]|Autosomal recessive nonsyndromic hearing loss 2 [RCV000288323]|Usher syndrome type 1 [RCV000345669]|not provided [RCV000974265]|not specified [RCV000155231] |
Chr11:77182132 [GRCh38] Chr11:76893178 [GRCh37] Chr11:11q13.5 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_000260.4(MYO7A):c.3925-8G>A |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 11 [RCV001113087]|Autosomal recessive nonsyndromic hearing loss 2 [RCV001113088]|Usher syndrome type 1 [RCV001113086]|not provided [RCV000828165]|not specified [RCV000155232] |
Chr11:77192043 [GRCh38] Chr11:76903088 [GRCh37] Chr11:11q13.5 |
likely benign|uncertain significance |
NM_000260.4(MYO7A):c.4153-8C>T |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 11 [RCV001111184]|Autosomal recessive nonsyndromic hearing loss 2 [RCV001111183]|Usher syndrome type 1 [RCV001111185]|not provided [RCV000904231]|not specified [RCV000155233] |
Chr11:77194346 [GRCh38] Chr11:76905391 [GRCh37] Chr11:11q13.5 |
likely benign|uncertain significance |
NM_000260.4(MYO7A):c.4195G>C (p.Asp1399His) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 11 [RCV000765017]|Inborn genetic diseases [RCV002514989]|Usher syndrome type 1B [RCV001273498]|not provided [RCV001037020]|not specified [RCV000155234] |
Chr11:77194396 [GRCh38] Chr11:76905441 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.4222C>G (p.Arg1408Gly) |
single nucleotide variant |
Inborn genetic diseases [RCV002516124]|Usher syndrome type 1B [RCV001831963]|not provided [RCV001051946]|not specified [RCV000155235] |
Chr11:77194423 [GRCh38] Chr11:76905468 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.4851C>T (p.Pro1617=) |
single nucleotide variant |
Nonsyndromic Hearing Loss, Dominant [RCV000357884]|Nonsyndromic Hearing Loss, Recessive [RCV000267931]|Retinitis pigmentosa-deafness syndrome [RCV000323066]|Usher syndrome type 1B [RCV001272800]|not provided [RCV000733015]|not specified [RCV000155236] |
Chr11:77199817 [GRCh38] Chr11:76910862 [GRCh37] Chr11:11q13.5 |
likely benign|uncertain significance |
NM_000260.4(MYO7A):c.5253G>T (p.Pro1751=) |
single nucleotide variant |
Usher syndrome type 1B [RCV001273509]|not provided [RCV000733418]|not specified [RCV000155237] |
Chr11:77203144 [GRCh38] Chr11:76914189 [GRCh37] Chr11:11q13.5 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_000260.4(MYO7A):c.5418C>T (p.Ala1806=) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 11 [RCV001112054]|Autosomal recessive nonsyndromic hearing loss 2 [RCV001112055]|Usher syndrome type 1 [RCV001112053]|not provided [RCV001461873]|not specified [RCV000155238] |
Chr11:77204167 [GRCh38] Chr11:76915212 [GRCh37] Chr11:11q13.5 |
likely benign|uncertain significance |
NM_000260.4(MYO7A):c.5356T>A (p.Ser1786Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV003258673]|not provided [RCV001242574]|not specified [RCV000155239] |
Chr11:77204105 [GRCh38] Chr11:76915150 [GRCh37] Chr11:11q13.5 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_000260.4(MYO7A):c.5373C>T (p.Ser1791=) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 11 [RCV001111576]|Autosomal recessive nonsyndromic hearing loss 2 [RCV001111577]|Usher syndrome type 1 [RCV001111578]|not provided [RCV000953292]|not specified [RCV000155240] |
Chr11:77204122 [GRCh38] Chr11:76915167 [GRCh37] Chr11:11q13.5 |
likely benign|uncertain significance |
NM_000260.4(MYO7A):c.6363G>A (p.Thr2121=) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 11 [RCV001111950]|Autosomal recessive nonsyndromic hearing loss 2 [RCV001111952]|Usher syndrome type 1 [RCV001111951]|not provided [RCV000842733]|not specified [RCV000155241] |
Chr11:77212960 [GRCh38] Chr11:76924005 [GRCh37] Chr11:11q13.5 |
likely benign|uncertain significance |
NM_000260.4(MYO7A):c.5495G>A (p.Arg1832Gln) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 11 [RCV000477766]|Usher syndrome type 1B [RCV001826836]|not provided [RCV001241068]|not specified [RCV000155242] |
Chr11:77205476 [GRCh38] Chr11:76916521 [GRCh37] Chr11:11q13.5 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_000260.4(MYO7A):c.5899C>T (p.Arg1967Ter) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 2 [RCV000411148]|MYO7A-Related Disorders [RCV000319894]|Rare genetic deafness [RCV000844723]|Retinal dystrophy [RCV000225571]|Usher syndrome type 1 [RCV000155243]|Usher syndrome type 1B [RCV001831964]|not provided [RCV001544789] |
Chr11:77208472 [GRCh38] Chr11:76919517 [GRCh37] Chr11:11q13.5 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
NM_000260.4(MYO7A):c.6247G>A (p.Ala2083Thr) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 11 [RCV000386123]|Autosomal dominant nonsyndromic hearing loss 11 [RCV000765019]|Autosomal recessive nonsyndromic hearing loss 2 [RCV001089552]|Meniere disease [RCV001526687]|Usher syndrome type 1 [RCV000290561]|Usher syndrome type 1B [RCV001274807]|not provided [RCV001034255]|not specified [RCV000155244] |
Chr11:77211830 [GRCh38] Chr11:76922875 [GRCh37] Chr11:11q13.5 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_000260.4(MYO7A):c.284A>T (p.Tyr95Phe) |
single nucleotide variant |
Rare genetic deafness [RCV000151475] |
Chr11:77147949 [GRCh38] Chr11:76858995 [GRCh37] Chr11:11q13.5 |
likely pathogenic|uncertain significance |
NM_000260.4(MYO7A):c.397C>A (p.His133Asn) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 11 [RCV001115096]|Autosomal recessive nonsyndromic hearing loss 2 [RCV000665283]|Autosomal recessive nonsyndromic hearing loss 2 [RCV001115095]|Usher syndrome type 1 [RCV001115094]|Usher syndrome type 1B [RCV001831942]|not provided [RCV001054443]|not specified [RCV000151476] |
Chr11:77156018 [GRCh38] Chr11:76867064 [GRCh37] Chr11:11q13.5 |
pathogenic|likely benign|uncertain significance |
NM_000260.4(MYO7A):c.973_976del (p.Ile325fs) |
deletion |
Rare genetic deafness [RCV000151481] |
Chr11:77158398..77158401 [GRCh38] Chr11:76869444..76869447 [GRCh37] Chr11:11q13.5 |
pathogenic |
NM_000260.4(MYO7A):c.977T>A (p.Leu326Gln) |
single nucleotide variant |
Hearing loss, autosomal recessive [RCV001291467]|MYO7A-Related Disorders [RCV000778340]|Rare genetic deafness [RCV000151482]|Usher syndrome [RCV001252672]|Usher syndrome type 1 [RCV001810427]|not provided [RCV000498129] |
Chr11:77158404 [GRCh38] Chr11:76869450 [GRCh37] Chr11:11q13.5 |
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
NM_000260.4(MYO7A):c.1006C>T (p.Arg336Cys) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 11 [RCV001109643]|Autosomal recessive nonsyndromic hearing loss 2 [RCV001109644]|Retinal dystrophy [RCV001075256]|Usher syndrome type 1 [RCV001109642]|not provided [RCV001514137]|not specified [RCV000151483] |
Chr11:77159449 [GRCh38] Chr11:76870495 [GRCh37] Chr11:11q13.5 |
benign|uncertain significance |
NM_000260.4(MYO7A):c.1123C>G (p.Leu375Val) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 2 [RCV000669568]|not specified [RCV000151484] |
Chr11:77160205 [GRCh38] Chr11:76871251 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.1583T>G (p.Leu528Arg) |
single nucleotide variant |
Usher syndrome [RCV000151486]|Usher syndrome type 1 [RCV001808415] |
Chr11:77162881 [GRCh38] Chr11:76873927 [GRCh37] Chr11:11q13.5 |
likely pathogenic|uncertain significance |
NM_000260.4(MYO7A):c.2091G>A (p.Lys697=) |
single nucleotide variant |
not provided [RCV000982646]|not specified [RCV000151493] |
Chr11:77174911 [GRCh38] Chr11:76885957 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.2106C>T (p.Arg702=) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 11 [RCV001109908]|Autosomal recessive nonsyndromic hearing loss 2 [RCV001109907]|Usher syndrome type 1 [RCV001109909]|not provided [RCV000941064]|not specified [RCV000151495] |
Chr11:77175383 [GRCh38] Chr11:76886429 [GRCh37] Chr11:11q13.5 |
benign|likely benign|uncertain significance |
NM_000260.4(MYO7A):c.2488C>T (p.Arg830Cys) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 2 [RCV000670096]|Usher syndrome type 1B [RCV001276691]|not provided [RCV002514916]|not specified [RCV000151499] |
Chr11:77179855 [GRCh38] Chr11:76890901 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.2625G>A (p.Ala875=) |
single nucleotide variant |
not provided [RCV000927346]|not specified [RCV000151500] |
Chr11:77180412 [GRCh38] Chr11:76891458 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.2829G>A (p.Val943=) |
single nucleotide variant |
not specified [RCV000151501] |
Chr11:77181514 [GRCh38] Chr11:76892560 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.4323+12G>A |
single nucleotide variant |
not provided [RCV001520330]|not specified [RCV000151508] |
Chr11:77194536 [GRCh38] Chr11:76905581 [GRCh37] Chr11:11q13.5 |
benign|likely benign |
NM_000260.4(MYO7A):c.6615G>A (p.Met2205Ile) |
single nucleotide variant |
not provided [RCV001033987]|not specified [RCV000151524] |
Chr11:77214663 [GRCh38] Chr11:76925708 [GRCh37] Chr11:11q13.5 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_000260.4(MYO7A):c.1798-15C>T |
single nucleotide variant |
not provided [RCV001519570]|not specified [RCV000155378] |
Chr11:77172733 [GRCh38] Chr11:76883779 [GRCh37] Chr11:11q13.5 |
benign|likely benign |
NM_000260.4(MYO7A):c.4845C>A (p.Pro1615=) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 11 [RCV001111383]|Autosomal recessive nonsyndromic hearing loss 2 [RCV001111381]|Usher syndrome type 1 [RCV001111382]|not provided [RCV000971579]|not specified [RCV000155379] |
Chr11:77199811 [GRCh38] Chr11:76910856 [GRCh37] Chr11:11q13.5 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_000260.4(MYO7A):c.1208A>G (p.Tyr403Cys) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 2 [RCV000675112]|Rare genetic deafness [RCV000155424]|Usher syndrome [RCV001089675]|not provided [RCV000594093] |
Chr11:77160980 [GRCh38] Chr11:76872026 [GRCh37] Chr11:11q13.5 |
likely pathogenic|uncertain significance |
NM_000260.4(MYO7A):c.5464A>C (p.Thr1822Pro) |
single nucleotide variant |
Rare genetic deafness [RCV000155694] |
Chr11:77204213 [GRCh38] Chr11:76915258 [GRCh37] Chr11:11q13.5 |
likely pathogenic |
NM_000260.4(MYO7A):c.5095C>G (p.Gln1699Glu) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 11 [RCV002498756]|Autosomal recessive nonsyndromic hearing loss 2 [RCV000666398]|Usher syndrome type 1B [RCV001273506]|not provided [RCV001219511]|not specified [RCV000155708] |
Chr11:77202351 [GRCh38] Chr11:76913396 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.6614_6634dup (p.Met2205_Ser2211dup) |
duplication |
not provided [RCV000881565]|not specified [RCV000270443] |
Chr11:77214658..77214659 [GRCh38] Chr11:76925703..76925704 [GRCh37] Chr11:11q13.5 |
likely pathogenic|benign|likely benign|conflicting interpretations of pathogenicity |
NM_000260.4(MYO7A):c.3729G>A (p.Pro1243=) |
single nucleotide variant |
not provided [RCV000153523] |
Chr11:77190118 [GRCh38] Chr11:76901163 [GRCh37] Chr11:11q13.5 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_000260.4(MYO7A):c.5589C>G (p.His1863Gln) |
single nucleotide variant |
not provided [RCV000153524] |
Chr11:77205570 [GRCh38] Chr11:76916615 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.*8C>T |
single nucleotide variant |
not provided [RCV000153525] |
Chr11:77214704 [GRCh38] Chr11:76925749 [GRCh37] Chr11:11q13.5 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_000260.4(MYO7A):c.2572C>T (p.Arg858Cys) |
single nucleotide variant |
not provided [RCV000176147] |
Chr11:77179939 [GRCh38] Chr11:76890985 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.2340T>G (p.Gly780=) |
single nucleotide variant |
not provided [RCV000176029] |
Chr11:77179102 [GRCh38] Chr11:76890148 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.5494C>T (p.Arg1832Trp) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 2 [RCV000667801]|Usher syndrome type 1B [RCV001832023]|not provided [RCV000724417]|not specified [RCV000214220] |
Chr11:77205475 [GRCh38] Chr11:76916520 [GRCh37] Chr11:11q13.5 |
likely pathogenic|uncertain significance |
NM_000260.4(MYO7A):c.3527G>A (p.Ser1176Asn) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 11 [RCV002500491]|Autosomal recessive nonsyndromic hearing loss 2 [RCV000665185]|Retinal dystrophy [RCV001073919]|Usher syndrome [RCV001171544]|Usher syndrome type 1 [RCV000988610]|not provided [RCV000724054] |
Chr11:77189367 [GRCh38] Chr11:76900412 [GRCh37] Chr11:11q13.5 |
likely pathogenic|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_000260.4(MYO7A):c.39C>A (p.Asp13Glu) |
single nucleotide variant |
Usher syndrome type 1B [RCV001278603]|not provided [RCV000177023] |
Chr11:77142729 [GRCh38] Chr11:76853775 [GRCh37] Chr11:11q13.5 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_000260.4(MYO7A):c.4757A>G (p.Asn1586Ser) |
single nucleotide variant |
Usher syndrome type 1B [RCV001272798]|not provided [RCV000724089]|not specified [RCV000177824] |
Chr11:77199723 [GRCh38] Chr11:76910768 [GRCh37] Chr11:11q13.5 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_000260.4(MYO7A):c.6071G>C (p.Arg2024Pro) |
single nucleotide variant |
Usher syndrome type 1 [RCV001526727]|not provided [RCV001873715] |
Chr11:77211171 [GRCh38] Chr11:76922216 [GRCh37] Chr11:11q13.5 |
likely pathogenic|uncertain significance |
NM_000260.4(MYO7A):c.314T>G (p.Val105Gly) |
single nucleotide variant |
Rare genetic deafness [RCV000219484] |
Chr11:77155935 [GRCh38] Chr11:76866981 [GRCh37] Chr11:11q13.5 |
likely pathogenic |
NM_000260.4(MYO7A):c.5600C>T (p.Ala1867Val) |
single nucleotide variant |
not specified [RCV000217181] |
Chr11:77205581 [GRCh38] Chr11:76916626 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.4844C>T (p.Pro1615Leu) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 2 [RCV000667715]|Usher syndrome type 1B [RCV001828079]|not provided [RCV001815253]|not specified [RCV000213297] |
Chr11:77199810 [GRCh38] Chr11:76910855 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NP_000251.3(MYO7A):p.Tyr1302fsTer97 |
protein only |
Usher syndrome type 1 [RCV000213339] |
Chr11:11q13.5 |
pathogenic |
NM_000260.4(MYO7A):c.2308G>A (p.Ala770Thr) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 11 [RCV002503858]|Usher syndrome type 1B [RCV001835732]|not provided [RCV000756410]|not specified [RCV000220021] |
Chr11:77179070 [GRCh38] Chr11:76890116 [GRCh37] Chr11:11q13.5 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_000260.4(MYO7A):c.4254C>T (p.Pro1418=) |
single nucleotide variant |
not provided [RCV001408364]|not specified [RCV000220169] |
Chr11:77194455 [GRCh38] Chr11:76905500 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.1138G>A (p.Glu380Lys) |
single nucleotide variant |
not specified [RCV000215457] |
Chr11:77160220 [GRCh38] Chr11:76871266 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.6557T>C (p.Leu2186Pro) |
single nucleotide variant |
Usher syndrome type 1 [RCV000220295] |
Chr11:77213978 [GRCh38] Chr11:76925023 [GRCh37] Chr11:11q13.5 |
likely pathogenic|not provided |
NM_000260.4(MYO7A):c.3451C>G (p.Leu1151Val) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 2 [RCV000666203]|not provided [RCV002518178]|not specified [RCV000213823] |
Chr11:77184663 [GRCh38] Chr11:76895708 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.2115C>A (p.Cys705Ter) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 2 [RCV000770844]|Rare genetic deafness [RCV000220369] |
Chr11:77175392 [GRCh38] Chr11:76886438 [GRCh37] Chr11:11q13.5 |
pathogenic |
NM_000260.4(MYO7A):c.5845_5855del (p.Ile1949fs) |
deletion |
Rare genetic deafness [RCV000220428] |
Chr11:77207389..77207399 [GRCh38] Chr11:76918436..76918446 [GRCh37] Chr11:11q13.5 |
pathogenic |
NM_000260.4(MYO7A):c.4650G>A (p.Pro1550=) |
single nucleotide variant |
not provided [RCV001411380]|not specified [RCV000213960] |
Chr11:77199616 [GRCh38] Chr11:76910661 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.3491G>A (p.Arg1164Gln) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 2 [RCV000667161]|MYO7A-Related Disorders [RCV000626210]|Usher syndrome [RCV001171528]|Usher syndrome type 1B [RCV001828081]|not provided [RCV001345738]|not specified [RCV000218120] |
Chr11:77184703 [GRCh38] Chr11:76895748 [GRCh37] Chr11:11q13.5 |
likely pathogenic|uncertain significance |
NM_000260.4(MYO7A):c.3702C>G (p.Thr1234=) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 11 [RCV001114379]|Autosomal recessive nonsyndromic hearing loss 2 [RCV001113009]|Usher syndrome type 1 [RCV001113008]|not provided [RCV000879349]|not specified [RCV000220518] |
Chr11:77190091 [GRCh38] Chr11:76901136 [GRCh37] Chr11:11q13.5 |
benign|likely benign|uncertain significance |
NM_000260.4(MYO7A):c.5264C>T (p.Ala1755Val) |
single nucleotide variant |
MYO7A-related condition [RCV003417776]|Usher syndrome type 1B [RCV001828080]|not provided [RCV001566962]|not specified [RCV000220543] |
Chr11:77203155 [GRCh38] Chr11:76914200 [GRCh37] Chr11:11q13.5 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_000260.4(MYO7A):c.3591_3592del (p.Cys1198fs) |
microsatellite |
Rare genetic deafness [RCV000222358]|Usher syndrome [RCV003389465]|not provided [RCV000171464] |
Chr11:77189426..77189427 [GRCh38] Chr11:76900471..76900472 [GRCh37] Chr11:11q13.5 |
pathogenic|likely pathogenic |
NM_000260.4(MYO7A):c.285+14C>G |
single nucleotide variant |
not specified [RCV000222372] |
Chr11:77147964 [GRCh38] Chr11:76859010 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.3924+10CCCGGAAGCACCTCCT[3] |
microsatellite |
not provided [RCV001449399]|not specified [RCV000215847] |
Chr11:77190879..77190880 [GRCh38] Chr11:76901924..76901925 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.2904G>A (p.Glu968=) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 2 [RCV000984287]|Rare genetic deafness [RCV000215887]|Usher syndrome type 1 [RCV000984198]|not provided [RCV002517524] |
Chr11:77181589 [GRCh38] Chr11:76892635 [GRCh37] Chr11:11q13.5 |
pathogenic|likely pathogenic|uncertain significance |
NM_000260.4(MYO7A):c.593-4G>A |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 2 [RCV000672267]|not provided [RCV001429291]|not specified [RCV000218298] |
Chr11:77156858 [GRCh38] Chr11:76867904 [GRCh37] Chr11:11q13.5 |
likely benign|uncertain significance |
NM_000260.4(MYO7A):c.3864C>T (p.Ala1288=) |
single nucleotide variant |
not provided [RCV000842052]|not specified [RCV000214232] |
Chr11:77190810 [GRCh38] Chr11:76901855 [GRCh37] Chr11:11q13.5 |
benign|likely benign |
NM_000260.4(MYO7A):c.2311G>T (p.Ala771Ser) |
single nucleotide variant |
Usher syndrome type 1 [RCV000216077] |
Chr11:77179073 [GRCh38] Chr11:76890119 [GRCh37] Chr11:11q13.5 |
pathogenic|not provided |
NM_000260.4(MYO7A):c.3375+14C>A |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 11 [RCV001114283]|Autosomal recessive nonsyndromic hearing loss 2 [RCV001114284]|Usher syndrome type 1 [RCV001114285]|not provided [RCV002057121]|not specified [RCV000216118] |
Chr11:77183171 [GRCh38] Chr11:76894216 [GRCh37] Chr11:11q13.5 |
likely benign|uncertain significance |
NM_000260.4(MYO7A):c.1288C>T (p.Arg430Cys) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 11 [RCV000405741]|Autosomal recessive nonsyndromic hearing loss 2 [RCV000303792]|Usher syndrome type 1 [RCV000358625]|Usher syndrome type 1B [RCV001274698]|not provided [RCV000725835]|not specified [RCV000218429] |
Chr11:77161060 [GRCh38] Chr11:76872106 [GRCh37] Chr11:11q13.5 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_000260.4(MYO7A):c.3283G>A (p.Glu1095Lys) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 11 [RCV000299195]|Autosomal recessive nonsyndromic hearing loss 2 [RCV000390552]|Pendred syndrome [RCV001375348]|Retinitis pigmentosa [RCV000787855]|Usher syndrome type 1 [RCV000337813]|Usher syndrome type 1B [RCV001276699]|not provided [RCV000585568]|not specified [RCV000220951] |
Chr11:77182598 [GRCh38] Chr11:76893643 [GRCh37] Chr11:11q13.5 |
likely benign|uncertain significance |
NM_000260.4(MYO7A):c.1368C>T (p.Phe456=) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 11 [RCV001110521]|Autosomal recessive nonsyndromic hearing loss 2 [RCV000664870]|Autosomal recessive nonsyndromic hearing loss 2 [RCV001109740]|Usher syndrome type 1 [RCV001109741]|not provided [RCV001476961]|not specified [RCV000222635] |
Chr11:77162144 [GRCh38] Chr11:76873190 [GRCh37] Chr11:11q13.5 |
likely benign|uncertain significance |
NM_000260.4(MYO7A):c.1945C>T (p.Arg649Trp) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 11 [RCV001112601]|Autosomal recessive nonsyndromic hearing loss 2 [RCV000666700]|Autosomal recessive nonsyndromic hearing loss 2 [RCV001112600]|Usher syndrome type 1 [RCV001113932]|Usher syndrome type 1B [RCV001833211]|not provided [RCV001301731]|not specified [RCV000222692] |
Chr11:77174765 [GRCh38] Chr11:76885811 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.5246G>A (p.Arg1749Gln) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 11 [RCV000765018]|Autosomal recessive nonsyndromic hearing loss 2 [RCV000666572]|Usher syndrome type 1B [RCV001272810]|not provided [RCV002518177]|not specified [RCV000216251] |
Chr11:77203137 [GRCh38] Chr11:76914182 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.223del (p.Asp75fs) |
deletion |
Usher syndrome type 1 [RCV000222769]|not provided [RCV001853405] |
Chr11:77147884 [GRCh38] Chr11:76858930 [GRCh37] Chr11:11q13.5 |
pathogenic|not provided |
NM_000260.4(MYO7A):c.1619C>A (p.Pro540His) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 11 [RCV000394833]|Autosomal recessive nonsyndromic hearing loss 2 [RCV000344299]|Autosomal recessive nonsyndromic hearing loss 2 [RCV000675049]|Usher syndrome type 1 [RCV000308007]|Usher syndrome type 1B [RCV001272494]|not provided [RCV001853425]|not specified [RCV000222836] |
Chr11:77162917 [GRCh38] Chr11:76873963 [GRCh37] Chr11:11q13.5 |
likely pathogenic|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_000260.4(MYO7A):c.2506C>T (p.Arg836Cys) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 11 [RCV001112773]|Autosomal recessive nonsyndromic hearing loss 2 [RCV001112774]|Usher syndrome type 1 [RCV001112775]|Usher syndrome type 1B [RCV001276692]|not provided [RCV000901706]|not specified [RCV000222966] |
Chr11:77179873 [GRCh38] Chr11:76890919 [GRCh37] Chr11:11q13.5 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_000260.4(MYO7A):c.1623C>G (p.Pro541=) |
single nucleotide variant |
not provided [RCV001490282]|not specified [RCV000216457] |
Chr11:77162921 [GRCh38] Chr11:76873967 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.1117C>T (p.Arg373Cys) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 2 [RCV000454150]|Autosomal recessive nonsyndromic hearing loss 2 [RCV000675097]|not provided [RCV002510821]|not specified [RCV000223066] |
Chr11:77160199 [GRCh38] Chr11:76871245 [GRCh37] Chr11:11q13.5 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
NM_000260.4(MYO7A):c.6062A>G (p.Lys2021Arg) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 2 [RCV000675133]|Rare genetic deafness [RCV000223094]|Usher syndrome type 1 [RCV001449942]|Usher syndrome type 1B [RCV001275529]|not provided [RCV003126609] |
Chr11:77211162 [GRCh38] Chr11:76922207 [GRCh37] Chr11:11q13.5 |
likely pathogenic|uncertain significance |
NM_000260.4(MYO7A):c.4115T>G (p.Val1372Gly) |
single nucleotide variant |
Retinal dystrophy [RCV000225646]|Usher syndrome [RCV001171542]|Usher syndrome type 1 [RCV000210299]|not provided [RCV002515581] |
Chr11:77192241 [GRCh38] Chr11:76903286 [GRCh37] Chr11:11q13.5 |
likely pathogenic|uncertain significance |
NM_000260.4(MYO7A):c.2798G>A (p.Arg933His) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 11 [RCV001112846]|Autosomal recessive nonsyndromic hearing loss 2 [RCV001112848]|Hearing impairment [RCV001375364]|Usher syndrome type 1 [RCV001112847]|Usher syndrome type 1B [RCV001276696]|not provided [RCV000488266]|not specified [RCV000216662] |
Chr11:77181483 [GRCh38] Chr11:76892529 [GRCh37] Chr11:11q13.5 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_000260.4(MYO7A):c.4555del (p.Val1519fs) |
deletion |
Rare genetic deafness [RCV000216749] |
Chr11:77198608 [GRCh38] Chr11:76909653 [GRCh37] Chr11:11q13.5 |
pathogenic |
NM_000260.4(MYO7A):c.6092G>A (p.Arg2031Gln) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 2 [RCV000664976]|Usher syndrome type 1B [RCV001275531]|not provided [RCV002519643]|not specified [RCV000221469] |
Chr11:77211192 [GRCh38] Chr11:76922237 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.2006G>A (p.Arg669Gln) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 2 [RCV000665596]|Inborn genetic diseases [RCV002519642]|Usher syndrome type 1B [RCV001833212]|not provided [RCV000726877]|not specified [RCV000217051] |
Chr11:77174826 [GRCh38] Chr11:76885872 [GRCh37] Chr11:11q13.5 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_000260.4(MYO7A):c.1952T>C (p.Leu651Pro) |
single nucleotide variant |
Usher syndrome type 1 [RCV000219432] |
Chr11:77174772 [GRCh38] Chr11:76885818 [GRCh37] Chr11:11q13.5 |
pathogenic|not provided |
NM_000260.4(MYO7A):c.2181T>C (p.Phe727=) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 11 [RCV001110702]|Autosomal recessive nonsyndromic hearing loss 2 [RCV001110703]|Usher syndrome type 1 [RCV001112679]|not provided [RCV000941652]|not specified [RCV000219453] |
Chr11:77175458 [GRCh38] Chr11:76886504 [GRCh37] Chr11:11q13.5 |
benign|likely benign|uncertain significance |
Single allele |
insertion |
not provided [RCV000224378] |
Chr11:76868309..76868310 [GRCh37] |
benign |
NM_000260.4(MYO7A):c.4066A>T (p.Ser1356Cys) |
single nucleotide variant |
Usher syndrome type 1B [RCV001271756]|not provided [RCV000224963] |
Chr11:77192192 [GRCh38] Chr11:76903237 [GRCh37] Chr11:11q13.5 |
pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
NM_000260.4(MYO7A):c.3628A>T (p.Lys1210Ter) |
single nucleotide variant |
Retinal dystrophy [RCV000225423]|not provided [RCV001385689] |
Chr11:77189468 [GRCh38] Chr11:76900513 [GRCh37] Chr11:11q13.5 |
pathogenic|likely pathogenic |
NM_000260.4(MYO7A):c.1976C>A (p.Ser659Ter) |
single nucleotide variant |
Retinal dystrophy [RCV000225435]|Usher syndrome type 1 [RCV000760968] |
Chr11:77174796 [GRCh38] Chr11:76885842 [GRCh37] Chr11:11q13.5 |
pathogenic|likely pathogenic |
NM_000260.4(MYO7A):c.1135G>A (p.Gly379Arg) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 2 [RCV000674985]|Retinal dystrophy [RCV000225628] |
Chr11:77160217 [GRCh38] Chr11:76871263 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.620A>G (p.Asn207Ser) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 2 [RCV000225019] |
Chr11:77156889 [GRCh38] Chr11:76867935 [GRCh37] Chr11:11q13.5 |
pathogenic |
NM_000260.4(MYO7A):c.2905-1G>A |
single nucleotide variant |
Usher syndrome [RCV000504686] |
Chr11:77181950 [GRCh38] Chr11:76892996 [GRCh37] Chr11:11q13.5 |
likely pathogenic |
NM_000260.4(MYO7A):c.4084G>A (p.Val1362Met) |
single nucleotide variant |
Usher syndrome type 1B [RCV001829715]|not provided [RCV002529352]|not specified [RCV000603496] |
Chr11:77192210 [GRCh38] Chr11:76903255 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.1284C>T (p.Asn428=) |
single nucleotide variant |
not provided [RCV002064187]|not specified [RCV000603510] |
Chr11:77161056 [GRCh38] Chr11:76872102 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.736-3C>T |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 2 [RCV000669703] |
Chr11:77157276 [GRCh38] Chr11:76868322 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.6628_6643del (p.Gly2210fs) |
deletion |
Autosomal recessive nonsyndromic hearing loss 2 [RCV000669258] |
Chr11:77214676..77214691 [GRCh38] Chr11:76925721..76925736 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.1348G>C (p.Glu450Gln) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 2 [RCV000670043]|not provided [RCV001543540] |
Chr11:77162124 [GRCh38] Chr11:76873170 [GRCh37] Chr11:11q13.5 |
pathogenic|likely pathogenic|uncertain significance |
NM_000260.4(MYO7A):c.5856+50G>A |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 11 [RCV001533344]|Autosomal recessive nonsyndromic hearing loss 2 [RCV001533345]|Usher syndrome type 1 [RCV001533346]|not provided [RCV000829533]|not specified [RCV000251002] |
Chr11:77207452 [GRCh38] Chr11:76918497 [GRCh37] Chr11:11q13.5 |
benign |
NM_000260.4(MYO7A):c.3375+33G>C |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 11 [RCV001533341]|Autosomal recessive nonsyndromic hearing loss 2 [RCV001533342]|Usher syndrome type 1 [RCV001533343]|not provided [RCV000829508]|not specified [RCV000251231] |
Chr11:77183190 [GRCh38] Chr11:76894235 [GRCh37] Chr11:11q13.5 |
benign |
NM_000260.4(MYO7A):c.4323+35G>T |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 11 [RCV001778825]|Autosomal recessive nonsyndromic hearing loss 2 [RCV001778824]|Usher syndrome type 1 [RCV001778826]|not provided [RCV000829528]|not specified [RCV000244381] |
Chr11:77194559 [GRCh38] Chr11:76905604 [GRCh37] Chr11:11q13.5 |
benign |
NM_000260.4(MYO7A):c.736-47C>A |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 11 [RCV001533390]|Autosomal recessive nonsyndromic hearing loss 2 [RCV001533391]|Usher syndrome type 1 [RCV001533392]|not provided [RCV000835222]|not specified [RCV000246986] |
Chr11:77157232 [GRCh38] Chr11:76868278 [GRCh37] Chr11:11q13.5 |
benign |
NM_000260.4(MYO7A):c.6438+50A>T |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 11 [RCV001533380]|Autosomal recessive nonsyndromic hearing loss 2 [RCV001533381]|Usher syndrome type 1 [RCV001533382]|not provided [RCV000829534]|not specified [RCV000242494] |
Chr11:77213085 [GRCh38] Chr11:76924130 [GRCh37] Chr11:11q13.5 |
benign |
NM_000260.4(MYO7A):c.6439-31G>A |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 11 [RCV001533383]|Autosomal recessive nonsyndromic hearing loss 2 [RCV001533384]|Usher syndrome type 1 [RCV001533407]|not provided [RCV001682968]|not specified [RCV000247284] |
Chr11:77213829 [GRCh38] Chr11:76924874 [GRCh37] Chr11:11q13.5 |
benign |
NM_000260.4(MYO7A):c.1004-35C>G |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 11 [RCV001533292]|Autosomal recessive nonsyndromic hearing loss 2 [RCV001533293]|Usher syndrome type 1 [RCV001533294]|not provided [RCV000835223]|not specified [RCV000249862] |
Chr11:77159412 [GRCh38] Chr11:76870458 [GRCh37] Chr11:11q13.5 |
benign |
NM_000260.4(MYO7A):c.1936-23G>A |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 11 [RCV001533301]|Autosomal recessive nonsyndromic hearing loss 2 [RCV001533302]|Usher syndrome type 1 [RCV001533328]|not provided [RCV000829504]|not specified [RCV000242972] |
Chr11:77174733 [GRCh38] Chr11:76885779 [GRCh37] Chr11:11q13.5 |
benign |
NM_000260.4(MYO7A):c.1845del (p.Lys615fs) |
deletion |
Usher syndrome type 1 [RCV000240660] |
Chr11:77172795 [GRCh38] Chr11:76883841 [GRCh37] Chr11:11q13.5 |
pathogenic |
NM_000260.4(MYO7A):c.1343+50T>A |
single nucleotide variant |
not specified [RCV000253010] |
Chr11:77161165 [GRCh38] Chr11:76872211 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.3014C>T (p.Ala1005Val) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 11 [RCV000266912]|Autosomal recessive nonsyndromic hearing loss 2 [RCV000324370]|Hearing impairment [RCV001375357]|Usher syndrome type 1 [RCV000376712]|Usher syndrome type 1B [RCV001279411]|not provided [RCV001239326] |
Chr11:77182060 [GRCh38] Chr11:76893106 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.4280C>T (p.Thr1427Met) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 11 [RCV000380115]|Autosomal recessive nonsyndromic hearing loss 2 [RCV000340846]|Autosomal recessive nonsyndromic hearing loss 2 [RCV000672205]|Usher syndrome type 1 [RCV000283519]|Usher syndrome type 1B [RCV001828315]|not provided [RCV001043573] |
Chr11:77194481 [GRCh38] Chr11:76905526 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.*142A>G |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 11 [RCV000407145]|Autosomal recessive nonsyndromic hearing loss 2 [RCV000337377]|Usher syndrome type 1 [RCV000283549] |
Chr11:77214838 [GRCh38] Chr11:76925883 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.-154G>A |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 11 [RCV000346140]|Autosomal recessive nonsyndromic hearing loss 2 [RCV000301811]|Usher syndrome type 1 [RCV000396989] |
Chr11:77128382 [GRCh38] Chr11:76839428 [GRCh37] Chr11:11q13.5 |
likely benign|uncertain significance |
NM_000260.4(MYO7A):c.2282+5G>A |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 11 [RCV000304617]|Autosomal recessive nonsyndromic hearing loss 2 [RCV000353496]|Usher syndrome type 1 [RCV000268157]|Usher syndrome type 1B [RCV001276688]|not provided [RCV001245741]|not specified [RCV000611667] |
Chr11:77177648 [GRCh38] Chr11:76888694 [GRCh37] Chr11:11q13.5 |
likely benign|uncertain significance |
NM_000260.4(MYO7A):c.5667G>C (p.Leu1889=) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 11 [RCV000355606]|Autosomal recessive nonsyndromic hearing loss 2 [RCV000403039]|Usher syndrome type 1 [RCV000302211]|not provided [RCV002056248] |
Chr11:77206127 [GRCh38] Chr11:76917172 [GRCh37] Chr11:11q13.5 |
likely benign|uncertain significance |
NM_000260.4(MYO7A):c.4842C>A (p.Asn1614Lys) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 11 [RCV000356721]|Autosomal recessive nonsyndromic hearing loss 2 [RCV000303113]|Inborn genetic diseases [RCV002522209]|Usher syndrome type 1 [RCV000403390] |
Chr11:77199808 [GRCh38] Chr11:76910853 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.3662C>G (p.Pro1221Arg) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 11 [RCV000381527]|Autosomal recessive nonsyndromic hearing loss 2 [RCV000270717]|Usher syndrome type 1 [RCV000329095]|not provided [RCV002056247] |
Chr11:77190051 [GRCh38] Chr11:76901096 [GRCh37] Chr11:11q13.5 |
likely benign|uncertain significance |
NM_000260.4(MYO7A):c.2679C>T (p.Ala893=) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 11 [RCV000286807]|Autosomal recessive nonsyndromic hearing loss 2 [RCV000378907]|Usher syndrome type 1 [RCV000339449]|not provided [RCV001458388] |
Chr11:77180466 [GRCh38] Chr11:76891512 [GRCh37] Chr11:11q13.5 |
likely benign|uncertain significance |
NM_000260.4(MYO7A):c.3858G>A (p.Ala1286=) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 11 [RCV000335721]|Autosomal recessive nonsyndromic hearing loss 2 [RCV000404678]|Usher syndrome type 1 [RCV000305550]|Usher syndrome type 1B [RCV001271752]|not provided [RCV000916035]|not specified [RCV000608071] |
Chr11:77190804 [GRCh38] Chr11:76901849 [GRCh37] Chr11:11q13.5 |
likely benign|uncertain significance |
NM_000260.4(MYO7A):c.3415G>A (p.Gly1139Ser) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 11 [RCV000359563]|Autosomal recessive nonsyndromic hearing loss 2 [RCV000271790]|Inborn genetic diseases [RCV003298369]|Usher syndrome type 1 [RCV000302453]|Usher syndrome type 1B [RCV001828314]|not provided [RCV001039078] |
Chr11:77184627 [GRCh38] Chr11:76895672 [GRCh37] Chr11:11q13.5 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_000260.4(MYO7A):c.5930G>A (p.Arg1977Gln) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 11 [RCV000287579]|Autosomal recessive nonsyndromic hearing loss 2 [RCV000344870]|Inborn genetic diseases [RCV002520772]|Usher syndrome type 1 [RCV000379892]|Usher syndrome type 1B [RCV001833452]|not provided [RCV001365996] |
Chr11:77208503 [GRCh38] Chr11:76919548 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.549G>A (p.Ser183=) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 11 [RCV000346581]|Autosomal recessive nonsyndromic hearing loss 2 [RCV000288102]|Usher syndrome type 1 [RCV000382415]|Usher syndrome type 1B [RCV001274690]|not provided [RCV000902461] |
Chr11:77156738 [GRCh38] Chr11:76867784 [GRCh37] Chr11:11q13.5 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_000260.4(MYO7A):c.225C>A (p.Asp75Glu) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 11 [RCV000384820]|Autosomal dominant nonsyndromic hearing loss 11 [RCV002487362]|Autosomal recessive nonsyndromic hearing loss 2 [RCV000270634]|Usher syndrome type 1 [RCV000328010]|Usher syndrome type 1B [RCV001278606]|not provided [RCV002520770] |
Chr11:77147890 [GRCh38] Chr11:76858936 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.874C>T (p.Arg292Trp) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 11 [RCV000365761]|Autosomal recessive nonsyndromic hearing loss 2 [RCV000326285]|Usher syndrome type 1 [RCV000271212]|not provided [RCV001243912] |
Chr11:77158301 [GRCh38] Chr11:76869347 [GRCh37] Chr11:11q13.5 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_000260.4(MYO7A):c.-160G>A |
single nucleotide variant |
Nonsyndromic Hearing Loss, Dominant [RCV000402649]|Nonsyndromic Hearing Loss, Recessive [RCV000351800]|Retinitis pigmentosa-deafness syndrome [RCV000288651] |
Chr11:77128376 [GRCh38] Chr11:76839422 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.2697G>A (p.Glu899=) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 11 [RCV000403147]|Autosomal recessive nonsyndromic hearing loss 2 [RCV000289817]|Usher syndrome type 1 [RCV000347141]|Usher syndrome type 1B [RCV001833450]|not provided [RCV000840679] |
Chr11:77181382 [GRCh38] Chr11:76892428 [GRCh37] Chr11:11q13.5 |
likely benign|uncertain significance |
NM_000260.4(MYO7A):c.*363A>C |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 11 [RCV000332000]|Autosomal recessive nonsyndromic hearing loss 2 [RCV000274629]|Usher syndrome type 1 [RCV000366858]|not provided [RCV001594393] |
Chr11:77215059 [GRCh38] Chr11:76926104 [GRCh37] Chr11:11q13.5 |
benign|likely benign |
NM_000260.4(MYO7A):c.*230A>G |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 11 [RCV000363433]|Autosomal recessive nonsyndromic hearing loss 2 [RCV000309823]|Usher syndrome type 1 [RCV000404031]|not provided [RCV001690014] |
Chr11:77214926 [GRCh38] Chr11:76925971 [GRCh37] Chr11:11q13.5 |
benign|likely benign |
NM_000260.4(MYO7A):c.5265G>A (p.Ala1755=) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 11 [RCV000406574]|Autosomal recessive nonsyndromic hearing loss 2 [RCV000310716]|Usher syndrome type 1 [RCV000346611]|not provided [RCV001444129] |
Chr11:77203156 [GRCh38] Chr11:76914201 [GRCh37] Chr11:11q13.5 |
likely benign|uncertain significance |
NM_000260.4(MYO7A):c.6600G>C (p.Gln2200His) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 11 [RCV000273282]|Autosomal recessive nonsyndromic hearing loss 2 [RCV000327222]|Usher syndrome type 1 [RCV000365309]|not provided [RCV001850626] |
Chr11:77214648 [GRCh38] Chr11:76925693 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.*442T>C |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 11 [RCV000259693]|Autosomal recessive nonsyndromic hearing loss 2 [RCV000370726]|Usher syndrome type 1 [RCV000317300]|not provided [RCV001778900] |
Chr11:77215138 [GRCh38] Chr11:76926183 [GRCh37] Chr11:11q13.5 |
benign|likely benign|uncertain significance |
NM_000260.4(MYO7A):c.-211A>G |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 11 [RCV000260369]|Autosomal recessive nonsyndromic hearing loss 2 [RCV000362086]|Usher syndrome type 1 [RCV000323641] |
Chr11:77128325 [GRCh38] Chr11:76839371 [GRCh37] Chr11:11q13.5 |
likely benign|uncertain significance |
NM_000260.4(MYO7A):c.2507G>A (p.Arg836His) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 11 [RCV000363893]|Autosomal recessive nonsyndromic hearing loss 2 [RCV000333807]|Meniere disease [RCV001526684]|Usher syndrome type 1 [RCV000276334]|Usher syndrome type 1B [RCV001833449]|not provided [RCV001207535] |
Chr11:77179874 [GRCh38] Chr11:76890920 [GRCh37] Chr11:11q13.5 |
likely benign|uncertain significance |
NM_000260.4(MYO7A):c.2107G>A (p.Gly703Arg) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 11 [RCV000406123]|Autosomal recessive nonsyndromic hearing loss 2 [RCV000311742]|Usher syndrome type 1 [RCV000350852]|not provided [RCV001503720] |
Chr11:77175384 [GRCh38] Chr11:76886430 [GRCh37] Chr11:11q13.5 |
likely benign|uncertain significance |
NM_000260.4(MYO7A):c.1358G>A (p.Cys453Tyr) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 11 [RCV000329699]|Autosomal recessive nonsyndromic hearing loss 2 [RCV000374942]|Inborn genetic diseases [RCV002522208]|Usher syndrome type 1 [RCV000274537]|Usher syndrome type 1B [RCV001274700]|not provided [RCV000940796] |
Chr11:77162134 [GRCh38] Chr11:76873180 [GRCh37] Chr11:11q13.5 |
likely benign|uncertain significance |
NM_000260.4(MYO7A):c.4039C>T (p.Arg1347Cys) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 11 [RCV000330024]|Autosomal dominant nonsyndromic hearing loss 11 [RCV002487363]|Autosomal recessive nonsyndromic hearing loss 2 [RCV000369577]|Usher syndrome type 1 [RCV000277269]|not provided [RCV001859830]|not specified [RCV003317189] |
Chr11:77192165 [GRCh38] Chr11:76903210 [GRCh37] Chr11:11q13.5 |
pathogenic|uncertain significance |
NM_000260.4(MYO7A):c.288G>T (p.Thr96=) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 11 [RCV000351609]|Autosomal recessive nonsyndromic hearing loss 2 [RCV000313176]|Usher syndrome type 1 [RCV000394333]|not provided [RCV002056246] |
Chr11:77155909 [GRCh38] Chr11:76866955 [GRCh37] Chr11:11q13.5 |
likely benign|uncertain significance |
NM_000260.4(MYO7A):c.5640C>T (p.Asn1880=) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 11 [RCV000391723]|Autosomal recessive nonsyndromic hearing loss 2 [RCV000348795]|Usher syndrome type 1 [RCV000295020]|Usher syndrome type 1B [RCV001272814]|not provided [RCV000944350] |
Chr11:77206100 [GRCh38] Chr11:76917145 [GRCh37] Chr11:11q13.5 |
likely benign|uncertain significance |
NM_000260.4(MYO7A):c.5896G>A (p.Val1966Ile) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 11 [RCV000262329]|Autosomal recessive nonsyndromic hearing loss 2 [RCV000373397]|Usher syndrome type 1 [RCV000316239]|not provided [RCV000732114] |
Chr11:77208469 [GRCh38] Chr11:76919514 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.2372G>A (p.Arg791His) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 11 [RCV000348276]|Autosomal recessive nonsyndromic hearing loss 2 [RCV000389828]|Usher syndrome type 1 [RCV000295605]|Usher syndrome type 1B [RCV001828313]|not provided [RCV001315547] |
Chr11:77179739 [GRCh38] Chr11:76890785 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.895G>A (p.Ala299Thr) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 11 [RCV000331580]|Autosomal recessive nonsyndromic hearing loss 2 [RCV000295336]|Usher syndrome type 1 [RCV000380951]|not provided [RCV001465852] |
Chr11:77158322 [GRCh38] Chr11:76869368 [GRCh37] Chr11:11q13.5 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_000260.4(MYO7A):c.2057G>A (p.Arg686His) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 11 [RCV000344917]|Autosomal recessive nonsyndromic hearing loss 2 [RCV000295997]|Meniere disease [RCV001526683]|Usher syndrome type 1 [RCV000380863]|Usher syndrome type 1B [RCV001833447]|not provided [RCV001048255] |
Chr11:77174877 [GRCh38] Chr11:76885923 [GRCh37] Chr11:11q13.5 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_000260.4(MYO7A):c.1801G>A (p.Ala601Thr) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 11 [RCV000354619]|Autosomal recessive nonsyndromic hearing loss 2 [RCV000299486]|Usher syndrome type 1 [RCV000259771]|Usher syndrome type 1B [RCV001276679]|not provided [RCV001056085]|not specified [RCV000825399] |
Chr11:77172751 [GRCh38] Chr11:76883797 [GRCh37] Chr11:11q13.5 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_000260.4(MYO7A):c.1690+9G>T |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 11 [RCV000263099]|Autosomal recessive nonsyndromic hearing loss 2 [RCV000367245]|Usher syndrome type 1 [RCV000312541]|not provided [RCV000907024] |
Chr11:77162997 [GRCh38] Chr11:76874043 [GRCh37] Chr11:11q13.5 |
likely benign|uncertain significance |
NM_000260.4(MYO7A):c.239G>A (p.Gly80Asp) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 11 [RCV000264654]|Autosomal recessive nonsyndromic hearing loss 2 [RCV000322029]|Usher syndrome type 1 [RCV000378972]|not provided [RCV001859828] |
Chr11:77147904 [GRCh38] Chr11:76858950 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.5851G>C (p.Asp1951His) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 11 [RCV000281613]|Autosomal recessive nonsyndromic hearing loss 2 [RCV000341172]|Usher syndrome type 1 [RCV000406806]|not provided [RCV001850625] |
Chr11:77207397 [GRCh38] Chr11:76918442 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.160A>G (p.Thr54Ala) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 11 [RCV000395630]|Autosomal recessive nonsyndromic hearing loss 2 [RCV000298034]|Usher syndrome type 1 [RCV000355269]|Usher syndrome type 1B [RCV001833445]|not provided [RCV001059240] |
Chr11:77147825 [GRCh38] Chr11:76858871 [GRCh37] Chr11:11q13.5 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_000260.4(MYO7A):c.*504C>T |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 11 [RCV000374295]|Autosomal recessive nonsyndromic hearing loss 2 [RCV000320801]|Usher syndrome type 1 [RCV000282133]|not provided [RCV001709585] |
Chr11:77215200 [GRCh38] Chr11:76926245 [GRCh37] Chr11:11q13.5 |
benign|likely benign |
NM_000260.4(MYO7A):c.2411G>A (p.Arg804Gln) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 11 [RCV000374878]|Autosomal recessive nonsyndromic hearing loss 2 [RCV000280481]|Usher syndrome type 1 [RCV000335541]|Usher syndrome type 1B [RCV001833448]|not provided [RCV001240935] |
Chr11:77179778 [GRCh38] Chr11:76890824 [GRCh37] Chr11:11q13.5 |
likely benign|uncertain significance |
NM_000260.4(MYO7A):c.5661G>A (p.Pro1887=) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 11 [RCV000404938]|Autosomal recessive nonsyndromic hearing loss 2 [RCV000300737]|Usher syndrome type 1 [RCV000335764]|not provided [RCV000943569] |
Chr11:77206121 [GRCh38] Chr11:76917166 [GRCh37] Chr11:11q13.5 |
likely benign|uncertain significance |
NM_000260.4(MYO7A):c.5380G>A (p.Glu1794Lys) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 11 [RCV000298880]|Autosomal recessive nonsyndromic hearing loss 2 [RCV000263554]|Usher syndrome type 1 [RCV000353636]|Usher syndrome type 1B [RCV001833451]|not provided [RCV001091735]|not specified [RCV000608053] |
Chr11:77204129 [GRCh38] Chr11:76915174 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.1344-7C>G |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 11 [RCV000269702]|Autosomal recessive nonsyndromic hearing loss 2 [RCV000334180]|Usher syndrome type 1 [RCV000369160] |
Chr11:77162113 [GRCh38] Chr11:76873159 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.1554G>A (p.Lys518=) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 11 [RCV000371634]|Autosomal recessive nonsyndromic hearing loss 2 [RCV000316984]|Usher syndrome type 1 [RCV000280524] |
Chr11:77162330 [GRCh38] Chr11:76873376 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.5214C>A (p.Ala1738=) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 11 [RCV000259261]|Autosomal recessive nonsyndromic hearing loss 2 [RCV000319067]|Usher syndrome type 1 [RCV000374841]|not provided [RCV002522210] |
Chr11:77203105 [GRCh38] Chr11:76914150 [GRCh37] Chr11:11q13.5 |
likely benign|uncertain significance |
NM_000260.4(MYO7A):c.5037G>A (p.Glu1679=) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 11 [RCV000371787]|Autosomal recessive nonsyndromic hearing loss 2 [RCV000281106]|Usher syndrome type 1 [RCV000340847] |
Chr11:77201632 [GRCh38] Chr11:76912677 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.5860C>G (p.Leu1954Val) |
single nucleotide variant |
Usher syndrome type 1B [RCV001277330]|not provided [RCV000270823] |
Chr11:77208433 [GRCh38] Chr11:76919478 [GRCh37] Chr11:11q13.5 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_000260.4(MYO7A):c.-196C>T |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 11 [RCV000374627]|Autosomal recessive nonsyndromic hearing loss 2 [RCV000282485]|Usher syndrome type 1 [RCV000317861] |
Chr11:77128340 [GRCh38] Chr11:76839386 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.1091C>A (p.Pro364Gln) |
single nucleotide variant |
MYO7A-related condition [RCV003417893]|not provided [RCV000277131] |
Chr11:77160173 [GRCh38] Chr11:76871219 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.5227C>A (p.Arg1743=) |
single nucleotide variant |
Usher syndrome type 1B [RCV001828223]|not provided [RCV000725788]|not specified [RCV000379856] |
Chr11:77203118 [GRCh38] Chr11:76914163 [GRCh37] Chr11:11q13.5 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_000260.4(MYO7A):c.2208G>A (p.Leu736=) |
single nucleotide variant |
Usher syndrome type 1B [RCV001828195]|not provided [RCV000281308] |
Chr11:77177569 [GRCh38] Chr11:76888615 [GRCh37] Chr11:11q13.5 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_000260.4(MYO7A):c.3582C>T (p.Leu1194=) |
single nucleotide variant |
not provided [RCV000262779] |
Chr11:77189422 [GRCh38] Chr11:76900467 [GRCh37] Chr11:11q13.5 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_000260.4(MYO7A):c.5950G>A (p.Val1984Met) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 11 [RCV000391524]|Autosomal recessive nonsyndromic hearing loss 2 [RCV000348275]|Usher syndrome type 1 [RCV000309751]|not provided [RCV001770244] |
Chr11:77208702 [GRCh38] Chr11:76919747 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.5688G>A (p.Gln1896=) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 11 [RCV001112142]|Autosomal recessive nonsyndromic hearing loss 2 [RCV001112143]|Usher syndrome type 1 [RCV001112141]|Usher syndrome type 1B [RCV001833329]|not provided [RCV000725341]|not specified [RCV000354082] |
Chr11:77206148 [GRCh38] Chr11:76917193 [GRCh37] Chr11:11q13.5 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_000260.4(MYO7A):c.215G>T (p.Arg72Leu) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 11 [RCV000275973]|Autosomal recessive nonsyndromic hearing loss 2 [RCV000315275]|Usher syndrome type 1 [RCV000363005] |
Chr11:77147880 [GRCh38] Chr11:76858926 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.2759G>A (p.Arg920Gln) |
single nucleotide variant |
Nonsyndromic Hearing Loss, Dominant [RCV000311260]|Nonsyndromic Hearing Loss, Recessive [RCV000355987]|Retinitis pigmentosa-deafness syndrome [RCV000394663]|not provided [RCV001859829] |
Chr11:77181444 [GRCh38] Chr11:76892490 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.186G>A (p.Thr62=) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 11 [RCV000311072]|Autosomal recessive nonsyndromic hearing loss 2 [RCV000368170]|Usher syndrome type 1 [RCV000395629]|Usher syndrome type 1B [RCV001275886]|not provided [RCV000977630] |
Chr11:77147851 [GRCh38] Chr11:76858897 [GRCh37] Chr11:11q13.5 |
likely benign|uncertain significance |
NM_000260.4(MYO7A):c.5033G>A (p.Arg1678Gln) |
single nucleotide variant |
not provided [RCV000321111] |
Chr11:77201628 [GRCh38] Chr11:76912673 [GRCh37] Chr11:11q13.5 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_000260.4(MYO7A):c.731G>A (p.Arg244His) |
single nucleotide variant |
Usher syndrome type 1B [RCV001828270]|not provided [RCV000726411]|not specified [RCV000395205] |
Chr11:77157000 [GRCh38] Chr11:76868046 [GRCh37] Chr11:11q13.5 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_000260.4(MYO7A):c.4630G>A (p.Gly1544Ser) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 11 [RCV000379329]|Autosomal recessive nonsyndromic hearing loss 2 [RCV000265020]|Usher syndrome type 1 [RCV000324734] |
Chr11:77199596 [GRCh38] Chr11:76910641 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.562C>G (p.Gln188Glu) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 11 [RCV000406232]|Autosomal recessive nonsyndromic hearing loss 2 [RCV000352175]|Usher syndrome type 1 [RCV000312582]|Usher syndrome type 1B [RCV001833446]|not provided [RCV001245525]|not specified [RCV000606419] |
Chr11:77156751 [GRCh38] Chr11:76867797 [GRCh37] Chr11:11q13.5 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_000260.4(MYO7A):c.3297C>T (p.Pro1099=) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 11 [RCV001112923]|Autosomal recessive nonsyndromic hearing loss 2 [RCV001112924]|Usher syndrome type 1 [RCV001112925]|Usher syndrome type 1B [RCV001271743]|not provided [RCV000323874]|not specified [RCV000825201] |
Chr11:77183079 [GRCh38] Chr11:76894124 [GRCh37] Chr11:11q13.5 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_000260.4(MYO7A):c.676G>A (p.Ala226Thr) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 11 [RCV001109572]|Autosomal recessive nonsyndromic hearing loss 2 [RCV001109573]|Usher syndrome type 1 [RCV001109571]|not provided [RCV000726586] |
Chr11:77156945 [GRCh38] Chr11:76867991 [GRCh37] Chr11:11q13.5 |
benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_000260.4(MYO7A):c.351G>T (p.Glu117Asp) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 11 [RCV000266531]|Autosomal recessive nonsyndromic hearing loss 2 [RCV000301710]|Usher syndrome type 1 [RCV000358818] |
Chr11:77155972 [GRCh38] Chr11:76867018 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.3927G>T (p.Val1309=) |
single nucleotide variant |
not provided [RCV000400811] |
Chr11:77192053 [GRCh38] Chr11:76903098 [GRCh37] Chr11:11q13.5 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_000260.4(MYO7A):c.1242C>T (p.Ile414=) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 11 [RCV000343044]|Autosomal recessive nonsyndromic hearing loss 2 [RCV000404475]|Usher syndrome type 1 [RCV000278740] |
Chr11:77161014 [GRCh38] Chr11:76872060 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.4441+8G>A |
single nucleotide variant |
not provided [RCV000263824] |
Chr11:77197606 [GRCh38] Chr11:76908651 [GRCh37] Chr11:11q13.5 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_000260.4(MYO7A):c.401T>C (p.Ile134Thr) |
single nucleotide variant |
not provided [RCV000331588] |
Chr11:77156022 [GRCh38] Chr11:76867068 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.3503+17G>A |
single nucleotide variant |
not provided [RCV000367619] |
Chr11:77184732 [GRCh38] Chr11:76895777 [GRCh37] Chr11:11q13.5 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_000260.4(MYO7A):c.5169-6C>T |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 11 [RCV001111486]|Autosomal recessive nonsyndromic hearing loss 2 [RCV001111487]|Usher syndrome type 1 [RCV001111485]|Usher syndrome type 1B [RCV001272805]|not provided [RCV000726176]|not specified [RCV000403454] |
Chr11:77203054 [GRCh38] Chr11:76914099 [GRCh37] Chr11:11q13.5 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_000260.4(MYO7A):c.2427G>T (p.Gln809His) |
single nucleotide variant |
Usher syndrome type 1B [RCV001833365]|not provided [RCV000297470] |
Chr11:77179794 [GRCh38] Chr11:76890840 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.*101G>A |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 11 [RCV000372009]|Autosomal recessive nonsyndromic hearing loss 2 [RCV000279885]|Usher syndrome type 1 [RCV000333815] |
Chr11:77214797 [GRCh38] Chr11:76925842 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.4118G>A (p.Arg1373Gln) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 11 [RCV000280029]|Autosomal recessive nonsyndromic hearing loss 2 [RCV000372154]|Usher syndrome type 1 [RCV000323433] |
Chr11:77192244 [GRCh38] Chr11:76903289 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.5536C>G (p.Pro1846Ala) |
single nucleotide variant |
Usher syndrome type 1B [RCV001834585]|not provided [RCV000489106] |
Chr11:77205517 [GRCh38] Chr11:76916562 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.578C>A (p.Thr193Asn) |
single nucleotide variant |
Usher syndrome type 1B [RCV001278607] |
Chr11:77156767 [GRCh38] Chr11:76867813 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.2366T>C (p.Leu789Pro) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 11 [RCV002493493]|Usher syndrome type 1B [RCV001279400]|not provided [RCV001587313] |
Chr11:77179128 [GRCh38] Chr11:76890174 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.388A>G (p.Met130Val) |
single nucleotide variant |
Usher syndrome type 1B [RCV001829399]|not provided [RCV000489594] |
Chr11:77156009 [GRCh38] Chr11:76867055 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.2371C>T (p.Arg791Cys) |
single nucleotide variant |
Inborn genetic diseases [RCV003166607]|Usher syndrome type 1B [RCV001279401]|not provided [RCV001551981] |
Chr11:77179738 [GRCh38] Chr11:76890784 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.4953C>G (p.Gly1651=) |
single nucleotide variant |
Usher syndrome type 1B [RCV001279806] |
Chr11:77201548 [GRCh38] Chr11:76912593 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.2695-145A>T |
single nucleotide variant |
not provided [RCV001566149] |
Chr11:77181235 [GRCh38] Chr11:76892281 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.4664C>A (p.Ser1555Tyr) |
single nucleotide variant |
not provided [RCV000487681] |
Chr11:77199630 [GRCh38] Chr11:76910675 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.4153-71C>T |
single nucleotide variant |
not provided [RCV001574999] |
Chr11:77194283 [GRCh38] Chr11:76905328 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.3038C>T (p.Thr1013Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV002532383]|Usher syndrome type 1B [RCV001835862]|not provided [RCV000726712]|not specified [RCV000597975] |
Chr11:77182084 [GRCh38] Chr11:76893130 [GRCh37] Chr11:11q13.5 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_000260.4(MYO7A):c.4324-86C>T |
single nucleotide variant |
not provided [RCV001575214] |
Chr11:77197395 [GRCh38] Chr11:76908440 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.4568+21A>T |
single nucleotide variant |
not provided [RCV001548540] |
Chr11:77198642 [GRCh38] Chr11:76909687 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.3090C>T (p.Asp1030=) |
single nucleotide variant |
Usher syndrome type 1B [RCV001279412]|not provided [RCV001398489] |
Chr11:77182136 [GRCh38] Chr11:76893182 [GRCh37] Chr11:11q13.5 |
likely benign|uncertain significance |
NM_000260.4(MYO7A):c.5899C>G (p.Arg1967Gly) |
single nucleotide variant |
Usher syndrome type 1B [RCV001277332]|not provided [RCV002541659] |
Chr11:77208472 [GRCh38] Chr11:76919517 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.6441T>C (p.Asp2147=) |
single nucleotide variant |
Usher syndrome type 1B [RCV001277342]|not provided [RCV002069397] |
Chr11:77213862 [GRCh38] Chr11:76924907 [GRCh37] Chr11:11q13.5 |
likely benign|uncertain significance |
NM_000260.4(MYO7A):c.5771C>A (p.Ala1924Asp) |
single nucleotide variant |
Usher syndrome type 1B [RCV001277328] |
Chr11:77207317 [GRCh38] Chr11:76918362 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.2402A>C (p.His801Pro) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 11 [RCV001578632]|Autosomal dominant nonsyndromic hearing loss 11 [RCV002501934]|Autosomal recessive nonsyndromic hearing loss 2 [RCV001578633]|Usher syndrome type 1 [RCV001578634] |
Chr11:77179769 [GRCh38] Chr11:76890815 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.843G>A (p.Leu281=) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 11 [RCV001578778]|Autosomal recessive nonsyndromic hearing loss 2 [RCV001578779]|Usher syndrome type 1 [RCV001578780]|not provided [RCV002570816] |
Chr11:77157386 [GRCh38] Chr11:76868432 [GRCh37] Chr11:11q13.5 |
likely benign|uncertain significance |
NM_000260.4(MYO7A):c.6002C>T (p.Thr2001Met) |
single nucleotide variant |
Usher syndrome type 1B [RCV001272819]|not provided [RCV000489999] |
Chr11:77208754 [GRCh38] Chr11:76919799 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.5159A>T (p.Asp1720Val) |
single nucleotide variant |
not provided [RCV003238957] |
Chr11:77202415 [GRCh38] Chr11:76913460 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.1175T>C (p.Leu392Pro) |
single nucleotide variant |
Usher syndrome type 1B [RCV001278611] |
Chr11:77160257 [GRCh38] Chr11:76871303 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.4192G>A (p.Val1398Ile) |
single nucleotide variant |
not provided [RCV000596625] |
Chr11:77194393 [GRCh38] Chr11:76905438 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.398A>C (p.His133Pro) |
single nucleotide variant |
not provided [RCV000291756] |
Chr11:77156019 [GRCh38] Chr11:76867065 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.5820A>G (p.Ser1940=) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 11 [RCV000334037]|Autosomal recessive nonsyndromic hearing loss 2 [RCV000293070]|Usher syndrome type 1 [RCV000387359]|not provided [RCV001499006] |
Chr11:77207366 [GRCh38] Chr11:76918411 [GRCh37] Chr11:11q13.5 |
likely benign|uncertain significance |
NM_000260.4(MYO7A):c.-20G>A |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 11 [RCV000396991]|Autosomal recessive nonsyndromic hearing loss 2 [RCV000358921]|Usher syndrome type 1 [RCV000305411] |
Chr11:77130615 [GRCh38] Chr11:76841661 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.5088G>T (p.Arg1696=) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 11 [RCV000393098]|Autosomal recessive nonsyndromic hearing loss 2 [RCV000305655]|Usher syndrome type 1 [RCV000342085]|not provided [RCV000983621] |
Chr11:77202344 [GRCh38] Chr11:76913389 [GRCh37] Chr11:11q13.5 |
likely benign|uncertain significance |
NM_000260.4(MYO7A):c.-170C>T |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 11 [RCV000294597]|Autosomal recessive nonsyndromic hearing loss 2 [RCV000387405]|Usher syndrome type 1 [RCV000330554] |
Chr11:77128366 [GRCh38] Chr11:76839412 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.*208C>G |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 11 [RCV000306456]|Autosomal dominant nonsyndromic hearing loss 11 [RCV002480113]|Autosomal recessive nonsyndromic hearing loss 2 [RCV000407180]|Usher syndrome type 1 [RCV000340901] |
Chr11:77214904 [GRCh38] Chr11:76925949 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.500G>C (p.Ser167Thr) |
single nucleotide variant |
not provided [RCV000386572] |
Chr11:77156689 [GRCh38] Chr11:76867735 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.156C>G (p.Asn52Lys) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 11 [RCV000285555]|Autosomal recessive nonsyndromic hearing loss 2 [RCV000403334]|Usher syndrome type 1 [RCV000342500] |
Chr11:77147821 [GRCh38] Chr11:76858867 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.3(MYO7A):c.*560C>T |
single nucleotide variant |
Nonsyndromic Hearing Loss, Dominant [RCV000266546]|Nonsyndromic Hearing Loss, Recessive [RCV000320271]|Retinitis pigmentosa-deafness syndrome [RCV000358952]|not provided [RCV001786387] |
Chr11:77215256 [GRCh38] Chr11:76926301 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.52C>T (p.Gln18Ter) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 11 [RCV001198157]|Autosomal recessive nonsyndromic hearing loss 2 [RCV000668877]|Rare genetic deafness [RCV000610416]|Usher syndrome type 1B [RCV001834916]|not provided [RCV001090420] |
Chr11:77142742 [GRCh38] Chr11:76853788 [GRCh37] Chr11:11q13.5 |
pathogenic |
NM_000260.4(MYO7A):c.2146C>G (p.His716Asp) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 11 [RCV000338491]|Autosomal recessive nonsyndromic hearing loss 2 [RCV000397773]|Usher syndrome type 1 [RCV000298666]|Usher syndrome type 1B [RCV001279397]|not provided [RCV002520771] |
Chr11:77175423 [GRCh38] Chr11:76886469 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.3(MYO7A):c.*546C>T |
single nucleotide variant |
Nonsyndromic Hearing Loss, Dominant [RCV000364609]|Nonsyndromic Hearing Loss, Recessive [RCV000272212]|Retinitis pigmentosa-deafness syndrome [RCV000307570]|not provided [RCV001840498] |
Chr11:77215242 [GRCh38] Chr11:76926287 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.571G>C (p.Glu191Gln) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 11 [RCV000396773]|Autosomal recessive nonsyndromic hearing loss 2 [RCV000348805]|Usher syndrome type 1 [RCV000299728] |
Chr11:77156760 [GRCh38] Chr11:76867806 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.1056G>A (p.Leu352=) |
single nucleotide variant |
not provided [RCV000342465] |
Chr11:77159499 [GRCh38] Chr11:76870545 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.1623dup (p.Lys542fs) |
duplication |
Inborn genetic diseases [RCV000622289]|Retinal dystrophy [RCV001075145]|Usher syndrome type 1 [RCV001002727]|Usher syndrome type 1B [RCV001272493]|not provided [RCV001224052] |
Chr11:77162914..77162915 [GRCh38] Chr11:76873960..76873961 [GRCh37] Chr11:11q13.5 |
pathogenic |
NM_000260.4(MYO7A):c.5944G>A (p.Gly1982Arg) |
single nucleotide variant |
Retinal dystrophy [RCV001074974]|Usher syndrome type 1B [RCV001829663]|not provided [RCV000591647] |
Chr11:77208517 [GRCh38] Chr11:76919562 [GRCh37] Chr11:11q13.5 |
pathogenic |
NM_000260.4(MYO7A):c.2097C>T (p.Gly699=) |
single nucleotide variant |
Usher syndrome type 1B [RCV001279395]|not provided [RCV000591799] |
Chr11:77175374 [GRCh38] Chr11:76886420 [GRCh37] Chr11:11q13.5 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_000260.4(MYO7A):c.5665C>T (p.Leu1889=) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 11 [RCV001111676]|Autosomal recessive nonsyndromic hearing loss 2 [RCV001111675]|Usher syndrome type 1 [RCV001111677]|not provided [RCV001454263]|not specified [RCV000603293] |
Chr11:77206125 [GRCh38] Chr11:76917170 [GRCh37] Chr11:11q13.5 |
likely benign|uncertain significance |
NM_000260.4(MYO7A):c.2836A>C (p.Met946Leu) |
single nucleotide variant |
Usher syndrome type 1B [RCV001834949]|not provided [RCV002528769]|not specified [RCV000603317] |
Chr11:77181521 [GRCh38] Chr11:76892567 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.4568+13G>A |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 11 [RCV001108925]|Autosomal recessive nonsyndromic hearing loss 2 [RCV001108924]|Usher syndrome type 1 [RCV001108926]|not provided [RCV002062135]|not specified [RCV000607058] |
Chr11:77198634 [GRCh38] Chr11:76909679 [GRCh37] Chr11:11q13.5 |
likely benign|uncertain significance |
NM_000260.4(MYO7A):c.4225del (p.Leu1409fs) |
deletion |
not provided [RCV000592656] |
Chr11:77194425 [GRCh38] Chr11:76905470 [GRCh37] Chr11:11q13.5 |
pathogenic |
NM_000260.4(MYO7A):c.3134T>C (p.Ile1045Thr) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 11 [RCV002483646]|Autosomal recessive nonsyndromic hearing loss 2 [RCV000670848]|Usher syndrome type 1B [RCV001829681]|not provided [RCV000592682] |
Chr11:77182449 [GRCh38] Chr11:76893494 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.285+2T>C |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 2 [RCV000988600]|Rare genetic deafness [RCV000613318]|not provided [RCV000578756] |
Chr11:77147952 [GRCh38] Chr11:76858998 [GRCh37] Chr11:11q13.5 |
pathogenic|likely pathogenic |
NM_000260.4(MYO7A):c.2827G>A (p.Val943Met) |
single nucleotide variant |
not provided [RCV000598505] |
Chr11:77181512 [GRCh38] Chr11:76892558 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.5004C>T (p.Tyr1668=) |
single nucleotide variant |
not provided [RCV000598443] |
Chr11:77201599 [GRCh38] Chr11:76912644 [GRCh37] Chr11:11q13.5 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_000260.4(MYO7A):c.1353_1360del (p.Gln451fs) |
deletion |
not provided [RCV000599564] |
Chr11:77162126..77162133 [GRCh38] Chr11:76873172..76873179 [GRCh37] Chr11:11q13.5 |
pathogenic |
NM_000260.4(MYO7A):c.1820C>A (p.Ser607Ter) |
single nucleotide variant |
not provided [RCV000599567] |
Chr11:77172770 [GRCh38] Chr11:76883816 [GRCh37] Chr11:11q13.5 |
pathogenic|likely pathogenic |
NM_000260.4(MYO7A):c.6027C>T (p.Ala2009=) |
single nucleotide variant |
not provided [RCV000932491]|not specified [RCV000604122] |
Chr11:77208779 [GRCh38] Chr11:76919824 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.1209C>T (p.Tyr403=) |
single nucleotide variant |
not provided [RCV000593793] |
Chr11:77160981 [GRCh38] Chr11:76872027 [GRCh37] Chr11:11q13.5 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_000260.4(MYO7A):c.3157C>T (p.Pro1053Ser) |
single nucleotide variant |
Usher syndrome type 1B [RCV001276697]|not provided [RCV000585238]|not specified [RCV000608684] |
Chr11:77182472 [GRCh38] Chr11:76893517 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.618C>T (p.Arg206=) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 11 [RCV001109569]|Autosomal recessive nonsyndromic hearing loss 2 [RCV001109568]|Usher syndrome type 1 [RCV001109570]|not provided [RCV000841846]|not specified [RCV000599993] |
Chr11:77156887 [GRCh38] Chr11:76867933 [GRCh37] Chr11:11q13.5 |
likely benign|uncertain significance |
NM_000260.4(MYO7A):c.6236G>A (p.Arg2079Gln) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 11 [RCV002480266]|Usher syndrome type 1 [RCV001526422]|Usher syndrome type 1B [RCV001828385]|not provided [RCV001304904]|not specified [RCV000414725] |
Chr11:77211336 [GRCh38] Chr11:76922381 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.4920C>T (p.Gly1640=) |
single nucleotide variant |
not provided [RCV001564655] |
Chr11:77201515 [GRCh38] Chr11:76912560 [GRCh37] Chr11:11q13.5 |
likely benign|conflicting interpretations of pathogenicity |
NM_000260.4(MYO7A):c.2088C>T (p.Tyr696=) |
single nucleotide variant |
not provided [RCV000731186] |
Chr11:77174908 [GRCh38] Chr11:76885954 [GRCh37] Chr11:11q13.5 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_000260.4(MYO7A):c.2323C>T (p.Gln775Ter) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 2 [RCV000411572]|Rare genetic deafness [RCV000844718]|Usher syndrome type 1 [RCV000410053]|Usher syndrome type 1B [RCV001828377]|not provided [RCV001383210] |
Chr11:77179085 [GRCh38] Chr11:76890131 [GRCh37] Chr11:11q13.5 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
NM_000260.4(MYO7A):c.6203T>G (p.Leu2068Arg) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 11 [RCV001578728]|Autosomal recessive nonsyndromic hearing loss 2 [RCV001578729]|Usher syndrome type 1 [RCV001578768]|not provided [RCV000415923] |
Chr11:77211303 [GRCh38] Chr11:76922348 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.3595G>A (p.Val1199Met) |
single nucleotide variant |
not provided [RCV000733211] |
Chr11:77189435 [GRCh38] Chr11:76900480 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.3602G>A (p.Cys1201Tyr) |
single nucleotide variant |
not provided [RCV000416022] |
Chr11:77189442 [GRCh38] Chr11:76900487 [GRCh37] Chr11:11q13.5 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_000260.4(MYO7A):c.137_138dup (p.Trp47fs) |
microsatellite |
Usher syndrome type 2 [RCV001199710]|not provided [RCV000416054] |
Chr11:77147799..77147800 [GRCh38] Chr11:76858845..76858846 [GRCh37] Chr11:11q13.5 |
pathogenic|likely pathogenic |
NM_000260.4(MYO7A):c.3723A>T (p.Thr1241=) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 11 [RCV001114382]|Autosomal recessive nonsyndromic hearing loss 2 [RCV001114381]|Usher syndrome type 1 [RCV001114380]|not provided [RCV000416139] |
Chr11:77190112 [GRCh38] Chr11:76901157 [GRCh37] Chr11:11q13.5 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_000260.4(MYO7A):c.5772C>A (p.Ala1924=) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 11 [RCV001109459]|Autosomal recessive nonsyndromic hearing loss 2 [RCV001109460]|Usher syndrome type 1 [RCV001109461]|not provided [RCV000416261] |
Chr11:77207318 [GRCh38] Chr11:76918363 [GRCh37] Chr11:11q13.5 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_000260.4(MYO7A):c.4973A>G (p.Gln1658Arg) |
single nucleotide variant |
not provided [RCV000734149] |
Chr11:77201568 [GRCh38] Chr11:76912613 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.3724C>T (p.Gln1242Ter) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 11 [RCV000763280]|Autosomal recessive nonsyndromic hearing loss 2 [RCV000670142]|not provided [RCV000413055] |
Chr11:77190113 [GRCh38] Chr11:76901158 [GRCh37] Chr11:11q13.5 |
pathogenic|likely pathogenic |
NM_000260.4(MYO7A):c.4313C>T (p.Ala1438Val) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 11 [RCV000790511]|not provided [RCV002536923] |
Chr11:77194514 [GRCh38] Chr11:76905559 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.4074del (p.Glu1359fs) |
deletion |
not provided [RCV000413681] |
Chr11:77192199 [GRCh38] Chr11:76903244 [GRCh37] Chr11:11q13.5 |
likely pathogenic |
NM_000260.4(MYO7A):c.1555-8C>G |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 2 [RCV000667896]|not provided [RCV000413907] |
Chr11:77162845 [GRCh38] Chr11:76873891 [GRCh37] Chr11:11q13.5 |
pathogenic|likely pathogenic |
NM_000260.4(MYO7A):c.5636+2T>A |
single nucleotide variant |
not provided [RCV000414092] |
Chr11:77205619 [GRCh38] Chr11:76916664 [GRCh37] Chr11:11q13.5 |
likely pathogenic |
NM_000260.4(MYO7A):c.4838del (p.Asp1613fs) |
deletion |
Autosomal recessive nonsyndromic hearing loss 2 [RCV000671853]|Hearing loss, autosomal recessive [RCV001291099]|Usher syndrome [RCV000504720]|not provided [RCV001383415] |
Chr11:77199804 [GRCh38] Chr11:76910849 [GRCh37] Chr11:11q13.5 |
pathogenic|likely pathogenic |
NM_000260.4(MYO7A):c.324C>A (p.Tyr108Ter) |
single nucleotide variant |
Usher syndrome [RCV000504875]|not provided [RCV001390810] |
Chr11:77155945 [GRCh38] Chr11:76866991 [GRCh37] Chr11:11q13.5 |
pathogenic|likely pathogenic |
NM_000260.4(MYO7A):c.6551C>T (p.Thr2184Met) |
single nucleotide variant |
Usher syndrome [RCV000504907]|not provided [RCV001857218] |
Chr11:77213972 [GRCh38] Chr11:76925017 [GRCh37] Chr11:11q13.5 |
pathogenic|likely pathogenic |
NM_000260.4(MYO7A):c.1849T>C (p.Ser617Pro) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 2 [RCV000670176]|Autosomal recessive nonsyndromic hearing loss 2 [RCV000681537]|Hearing loss, autosomal recessive [RCV001291471]|Usher syndrome [RCV000504967] |
Chr11:77172799 [GRCh38] Chr11:76883845 [GRCh37] Chr11:11q13.5 |
pathogenic|likely pathogenic|uncertain significance |
NM_000260.3(MYO7A):c.22dup (p.Asp8Glyfs) |
duplication |
Usher syndrome [RCV000505053] |
Chr11:77142707..77142708 [GRCh38] Chr11:76853753..76853754 [GRCh37] Chr11:11q13.5 |
likely pathogenic |
NM_000260.4(MYO7A):c.3546C>A (p.Asn1182Lys) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 2 [RCV000670174]|Usher syndrome [RCV000505067]|not provided [RCV001047383] |
Chr11:77189386 [GRCh38] Chr11:76900431 [GRCh37] Chr11:11q13.5 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
NM_000260.4(MYO7A):c.721C>T (p.Arg241Cys) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 2 [RCV000666535]|Autosomal recessive nonsyndromic hearing loss 2 [RCV001542592]|Usher syndrome [RCV000505169]|Usher syndrome type 1B [RCV001829440]|not provided [RCV001380427] |
Chr11:77156990 [GRCh38] Chr11:76868036 [GRCh37] Chr11:11q13.5 |
pathogenic|likely pathogenic |
NM_000260.4(MYO7A):c.1349A>T (p.Glu450Val) |
single nucleotide variant |
Usher syndrome type 1 [RCV000505567]|not provided [RCV001229028] |
Chr11:77162125 [GRCh38] Chr11:76873171 [GRCh37] Chr11:11q13.5 |
likely pathogenic|uncertain significance |
NM_000260.4(MYO7A):c.4153-2A>G |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 2 [RCV000454153]|not provided [RCV001861651] |
Chr11:77194352 [GRCh38] Chr11:76905397 [GRCh37] Chr11:11q13.5 |
pathogenic |
NM_000260.4(MYO7A):c.6211C>T (p.Gln2071Ter) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 2 [RCV000454181]|not provided [RCV002522745] |
Chr11:77211311 [GRCh38] Chr11:76922356 [GRCh37] Chr11:11q13.5 |
pathogenic |
NM_000260.4(MYO7A):c.6196C>T (p.Gln2066Ter) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 2 [RCV000454216]|Autosomal recessive nonsyndromic hearing loss 2 [RCV000674950]|Usher syndrome type 1 [RCV001003090]|not provided [RCV002522744] |
Chr11:77211296 [GRCh38] Chr11:76922341 [GRCh37] Chr11:11q13.5 |
pathogenic|likely pathogenic |
NM_000260.4(MYO7A):c.6487G>A (p.Gly2163Ser) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 2 [RCV000454276]|Usher syndrome [RCV003235215]|not provided [RCV000520963] |
Chr11:77213908 [GRCh38] Chr11:76924953 [GRCh37] Chr11:11q13.5 |
pathogenic|likely pathogenic |
NM_000260.4(MYO7A):c.2307del (p.Asn769fs) |
deletion |
Autosomal recessive nonsyndromic hearing loss 2 [RCV000454349]|Usher syndrome type 1 [RCV001003086]|not provided [RCV001043738] |
Chr11:77179069 [GRCh38] Chr11:76890115 [GRCh37] Chr11:11q13.5 |
pathogenic |
NM_000260.4(MYO7A):c.565_566del (p.Val189fs) |
deletion |
Autosomal recessive nonsyndromic hearing loss 2 [RCV000449499] |
Chr11:77156754..77156755 [GRCh38] Chr11:76867800..76867801 [GRCh37] Chr11:11q13.5 |
pathogenic |
NM_000260.4(MYO7A):c.849+5G>A |
single nucleotide variant |
Usher syndrome type 1 [RCV000449574]|not provided [RCV001291561] |
Chr11:77157397 [GRCh38] Chr11:76868443 [GRCh37] Chr11:11q13.5 |
likely pathogenic |
NM_000260.4(MYO7A):c.4018G>A (p.Ala1340Thr) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 2 [RCV000665055]|Usher syndrome type 1B [RCV001273495]|not provided [RCV000421377]|not specified [RCV000825981] |
Chr11:77192144 [GRCh38] Chr11:76903189 [GRCh37] Chr11:11q13.5 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_000260.4(MYO7A):c.5945-4G>A |
single nucleotide variant |
not provided [RCV002062415]|not specified [RCV000443857] |
Chr11:77208693 [GRCh38] Chr11:76919738 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.1871C>A (p.Thr624Lys) |
single nucleotide variant |
not provided [RCV000423441] |
Chr11:77172821 [GRCh38] Chr11:76883867 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.3728C>T (p.Pro1243Leu) |
single nucleotide variant |
Usher syndrome [RCV000504890]|not provided [RCV000482515] |
Chr11:77190117 [GRCh38] Chr11:76901162 [GRCh37] Chr11:11q13.5 |
likely pathogenic |
NM_000260.4(MYO7A):c.3064_3067del (p.Leu1022fs) |
deletion |
not provided [RCV000484218] |
Chr11:77182108..77182111 [GRCh38] Chr11:76893154..76893157 [GRCh37] Chr11:11q13.5 |
likely pathogenic |
NM_000260.4(MYO7A):c.1563del (p.Asp521fs) |
deletion |
Hearing loss [RCV001270108]|Retinal dystrophy [RCV001073399]|not provided [RCV000484743] |
Chr11:77162861 [GRCh38] Chr11:76873907 [GRCh37] Chr11:11q13.5 |
pathogenic|likely pathogenic |
NM_000260.4(MYO7A):c.2219G>C (p.Arg740Pro) |
single nucleotide variant |
not provided [RCV000478341] |
Chr11:77177580 [GRCh38] Chr11:76888626 [GRCh37] Chr11:11q13.5 |
likely pathogenic |
NM_000260.4(MYO7A):c.285+1G>C |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 2 [RCV000672808]|not provided [RCV000478716] |
Chr11:77147951 [GRCh38] Chr11:76858997 [GRCh37] Chr11:11q13.5 |
pathogenic|likely pathogenic |
NM_000260.4(MYO7A):c.338_348dup (p.Glu117fs) |
duplication |
not provided [RCV000485760] |
Chr11:77155955..77155956 [GRCh38] Chr11:76867001..76867002 [GRCh37] Chr11:11q13.5 |
pathogenic |
NM_000260.4(MYO7A):c.4916C>T (p.Thr1639Met) |
single nucleotide variant |
not provided [RCV000482590]|not specified [RCV000825982] |
Chr11:77201511 [GRCh38] Chr11:76912556 [GRCh37] Chr11:11q13.5 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_000260.4(MYO7A):c.6509C>T (p.Thr2170Ile) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 11 [RCV001112406]|Autosomal recessive nonsyndromic hearing loss 2 [RCV001112405]|Usher syndrome type 1 [RCV001112407]|Usher syndrome type 1B [RCV001275538]|not provided [RCV000497657] |
Chr11:77213930 [GRCh38] Chr11:76924975 [GRCh37] Chr11:11q13.5 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_001127179.2(MYO7A):c.3514_3535del22 (p.Gly1172Glufs) |
deletion |
not specified [RCV000494468] |
Chr11:77184726..77184747 [GRCh38] Chr11:76895771..76895792 [GRCh37] Chr11:11q13.5 |
benign |
NM_000260.4(MYO7A):c.2558G>T (p.Arg853Leu) |
single nucleotide variant |
not provided [RCV000492840] |
Chr11:77179925 [GRCh38] Chr11:76890971 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.1652T>C (p.Ile551Thr) |
single nucleotide variant |
not provided [RCV000493265] |
Chr11:77162950 [GRCh38] Chr11:76873996 [GRCh37] Chr11:11q13.5 |
likely pathogenic |
NM_000260.4(MYO7A):c.4281G>A (p.Thr1427=) |
single nucleotide variant |
not provided [RCV000927789]|not specified [RCV000508049] |
Chr11:77194482 [GRCh38] Chr11:76905527 [GRCh37] Chr11:11q13.5 |
likely benign |
GRCh37/hg19 11p15.5-q25(chr11:230616-134938470) |
copy number gain |
See cases [RCV000511729] |
Chr11:230616..134938470 [GRCh37] Chr11:11p15.5-q25 |
pathogenic |
NM_000260.4(MYO7A):c.2878G>T (p.Glu960Ter) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 2 [RCV000669350]|not provided [RCV001861776] |
Chr11:77181563 [GRCh38] Chr11:76892609 [GRCh37] Chr11:11q13.5 |
pathogenic|likely pathogenic |
NM_000260.4(MYO7A):c.313del (p.Ala104_Val105insTer) |
deletion |
Autosomal recessive nonsyndromic hearing loss 2 [RCV000670271] |
Chr11:77155934 [GRCh38] Chr11:76866980 [GRCh37] Chr11:11q13.5 |
likely pathogenic |
NM_000260.4(MYO7A):c.133-7_146dup |
duplication |
Autosomal recessive nonsyndromic hearing loss 2 [RCV000670343] |
Chr11:77147787..77147788 [GRCh38] Chr11:76858833..76858834 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.4576del (p.Arg1526fs) |
deletion |
Autosomal recessive nonsyndromic hearing loss 2 [RCV000670356] |
Chr11:77199541 [GRCh38] Chr11:76910586 [GRCh37] Chr11:11q13.5 |
likely pathogenic |
NM_000260.4(MYO7A):c.3630+7A>G |
single nucleotide variant |
not provided [RCV001433744]|not specified [RCV000600924] |
Chr11:77189477 [GRCh38] Chr11:76900522 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.5886_5889del (p.Phe1962fs) |
deletion |
Autosomal recessive nonsyndromic hearing loss 2 [RCV000669035]|not provided [RCV001861772] |
Chr11:77208457..77208460 [GRCh38] Chr11:76919502..76919505 [GRCh37] Chr11:11q13.5 |
pathogenic |
NM_000260.4(MYO7A):c.5510T>C (p.Leu1837Pro) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 11 [RCV001334338]|Autosomal recessive nonsyndromic hearing loss 2 [RCV000669072]|Autosomal recessive nonsyndromic hearing loss 2 [RCV003152610]|Usher syndrome type 1 [RCV003155267]|not provided [RCV001855514] |
Chr11:77205491 [GRCh38] Chr11:76916536 [GRCh37] Chr11:11q13.5 |
pathogenic|likely pathogenic|uncertain significance|no classifications from unflagged records |
NM_000260.4(MYO7A):c.3701C>G (p.Thr1234Ser) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 2 [RCV000670034] |
Chr11:77190090 [GRCh38] Chr11:76901135 [GRCh37] Chr11:11q13.5 |
uncertain significance |
GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3 |
copy number gain |
See cases [RCV000510881] |
Chr11:230616..134938470 [GRCh37] Chr11:11p15.5-q25 |
pathogenic |
NM_000260.4(MYO7A):c.4735G>A (p.Glu1579Lys) |
single nucleotide variant |
Usher syndrome type 1B [RCV001834919]|not provided [RCV002532729]|not specified [RCV000602682] |
Chr11:77199701 [GRCh38] Chr11:76910746 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.1814A>G (p.Lys605Arg) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 11 [RCV002483679]|Usher syndrome type 1B [RCV001276680]|not provided [RCV001201549]|not specified [RCV000601443] |
Chr11:77172764 [GRCh38] Chr11:76883810 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.2348G>A (p.Cys783Tyr) |
single nucleotide variant |
not provided [RCV000594068] |
Chr11:77179110 [GRCh38] Chr11:76890156 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.6264C>T (p.His2088=) |
single nucleotide variant |
not provided [RCV001476971]|not specified [RCV000600993] |
Chr11:77211847 [GRCh38] Chr11:76922892 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.3213G>T (p.Met1071Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV003257648] |
Chr11:77182528 [GRCh38] Chr11:76893573 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.6054G>A (p.Glu2018=) |
single nucleotide variant |
not provided [RCV001471785]|not specified [RCV000599900] |
Chr11:77211154 [GRCh38] Chr11:76922199 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.439C>T (p.Arg147Cys) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 11 [RCV000626134]|Usher syndrome type 1B [RCV001834981]|not provided [RCV001350027] |
Chr11:77156060 [GRCh38] Chr11:76867106 [GRCh37] Chr11:11q13.5 |
likely pathogenic|uncertain significance |
NM_000260.4(MYO7A):c.3610C>A (p.Pro1204Thr) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 11 [RCV002485557]|Autosomal recessive nonsyndromic hearing loss 2 [RCV000672010]|not provided [RCV001245615] |
Chr11:77189450 [GRCh38] Chr11:76900495 [GRCh37] Chr11:11q13.5 |
pathogenic|uncertain significance |
NM_000260.4(MYO7A):c.2039A>G (p.Glu680Gly) |
single nucleotide variant |
not specified [RCV000607306] |
Chr11:77174859 [GRCh38] Chr11:76885905 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.470+6C>A |
single nucleotide variant |
not provided [RCV001860328]|not specified [RCV000607403] |
Chr11:77156097 [GRCh38] Chr11:76867143 [GRCh37] Chr11:11q13.5 |
likely benign|uncertain significance |
NM_000260.4(MYO7A):c.486C>T (p.Ala162=) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 11 [RCV001109458]|Autosomal recessive nonsyndromic hearing loss 2 [RCV001111771]|Usher syndrome type 1 [RCV001111770]|not provided [RCV000838487]|not specified [RCV000602298] |
Chr11:77156675 [GRCh38] Chr11:76867721 [GRCh37] Chr11:11q13.5 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_000260.4(MYO7A):c.2237A>C (p.Asp746Ala) |
single nucleotide variant |
Inborn genetic diseases [RCV003280470] |
Chr11:77177598 [GRCh38] Chr11:76888644 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.5748C>T (p.Phe1916=) |
single nucleotide variant |
not provided [RCV001445437]|not specified [RCV000615072] |
Chr11:77207294 [GRCh38] Chr11:76918339 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.3656G>T (p.Gly1219Val) |
single nucleotide variant |
not provided [RCV001868088]|not specified [RCV000615073] |
Chr11:77190045 [GRCh38] Chr11:76901090 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.205G>A (p.Asp69Asn) |
single nucleotide variant |
Inborn genetic diseases [RCV003280217] |
Chr11:77147870 [GRCh38] Chr11:76858916 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.1239G>A (p.Lys413=) |
single nucleotide variant |
not provided [RCV000941852]|not specified [RCV000615180] |
Chr11:77161011 [GRCh38] Chr11:76872057 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.4728G>A (p.Lys1576=) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 11 [RCV001114662]|Autosomal recessive nonsyndromic hearing loss 2 [RCV001114660]|Usher syndrome type 1 [RCV001114661]|not provided [RCV001584408]|not specified [RCV000615222] |
Chr11:77199694 [GRCh38] Chr11:76910739 [GRCh37] Chr11:11q13.5 |
likely benign|uncertain significance |
NM_000260.4(MYO7A):c.2928G>A (p.Glu976=) |
single nucleotide variant |
not provided [RCV001427414]|not specified [RCV000601343] |
Chr11:77181974 [GRCh38] Chr11:76893020 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.1984A>T (p.Met662Leu) |
single nucleotide variant |
Usher syndrome type 1B [RCV001276683]|not provided [RCV001228041]|not specified [RCV000615722] |
Chr11:77174804 [GRCh38] Chr11:76885850 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.5243C>T (p.Thr1748Met) |
single nucleotide variant |
MYO7A-related condition [RCV003424169]|not provided [RCV002529323]|not specified [RCV000612824] |
Chr11:77203134 [GRCh38] Chr11:76914179 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.1343+8G>T |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 11 [RCV001113755]|Autosomal recessive nonsyndromic hearing loss 2 [RCV001113756]|Usher syndrome type 1 [RCV001113754]|not provided [RCV001467210]|not specified [RCV000601954] |
Chr11:77161123 [GRCh38] Chr11:76872169 [GRCh37] Chr11:11q13.5 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_000260.4(MYO7A):c.1798-11C>T |
single nucleotide variant |
not provided [RCV001421237]|not specified [RCV000610295] |
Chr11:77172737 [GRCh38] Chr11:76883783 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.1817G>A (p.Arg606His) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 11 [RCV001110610]|Autosomal recessive nonsyndromic hearing loss 2 [RCV001110608]|Nonsyndromic genetic hearing loss [RCV000710344]|Usher syndrome type 1 [RCV001110609]|Usher syndrome type 1B [RCV001272496]|not provided [RCV001043882]|not specified [RCV000613132] |
Chr11:77172767 [GRCh38] Chr11:76883813 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.4978G>A (p.Gly1660Arg) |
single nucleotide variant |
Usher syndrome type 1 [RCV001249570]|Usher syndrome type 1B [RCV001834927]|not provided [RCV001755987]|not specified [RCV000616248] |
Chr11:77201573 [GRCh38] Chr11:76912618 [GRCh37] Chr11:11q13.5 |
uncertain significance|not provided |
NM_000260.4(MYO7A):c.2094+8G>A |
single nucleotide variant |
not provided [RCV002062140]|not specified [RCV000610573] |
Chr11:77174922 [GRCh38] Chr11:76885968 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.3943G>A (p.Gly1315Ser) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 11 [RCV000765016]|Usher syndrome type 1B [RCV001271754]|not provided [RCV001860342]|not specified [RCV000610587] |
Chr11:77192069 [GRCh38] Chr11:76903114 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.3536T>A (p.Leu1179Gln) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 11 [RCV001110262]|Autosomal recessive nonsyndromic hearing loss 2 [RCV001110263]|Usher syndrome type 1 [RCV001110264]|Usher syndrome type 1B [RCV001835874]|not provided [RCV001241943]|not specified [RCV000613382] |
Chr11:77189376 [GRCh38] Chr11:76900421 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.6384C>T (p.Ile2128=) |
single nucleotide variant |
not provided [RCV001410848]|not specified [RCV000608067] |
Chr11:77212981 [GRCh38] Chr11:76924026 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.1617C>G (p.Ile539Met) |
single nucleotide variant |
Usher syndrome type 1B [RCV001834951]|not specified [RCV000608125] |
Chr11:77162915 [GRCh38] Chr11:76873961 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.1555-5C>T |
single nucleotide variant |
not specified [RCV000613522] |
Chr11:77162848 [GRCh38] Chr11:76873894 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.612C>A (p.Thr204=) |
single nucleotide variant |
not specified [RCV000608276] |
Chr11:77156881 [GRCh38] Chr11:76867927 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.6339C>A (p.Ala2113=) |
single nucleotide variant |
not provided [RCV001459122]|not specified [RCV000608360] |
Chr11:77211922 [GRCh38] Chr11:76922967 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.578C>T (p.Thr193Ile) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 2 [RCV000669244]|Usher syndrome type 1B [RCV001829662]|not provided [RCV000595488] |
Chr11:77156767 [GRCh38] Chr11:76867813 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.133-6C>T |
single nucleotide variant |
not provided [RCV001239538] |
Chr11:77147792 [GRCh38] Chr11:76858838 [GRCh37] Chr11:11q13.5 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_000260.4(MYO7A):c.904C>T (p.Arg302Cys) |
single nucleotide variant |
not provided [RCV001860241]|not specified [RCV000606605] |
Chr11:77158331 [GRCh38] Chr11:76869377 [GRCh37] Chr11:11q13.5 |
likely benign|uncertain significance |
NM_000260.4(MYO7A):c.3836C>T (p.Thr1279Met) |
single nucleotide variant |
Inborn genetic diseases [RCV002528788]|Usher syndrome type 1B [RCV001834958]|not specified [RCV000608638] |
Chr11:77190782 [GRCh38] Chr11:76901827 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.1374T>G (p.Asn458Lys) |
single nucleotide variant |
not provided [RCV001294801]|not specified [RCV000611363] |
Chr11:77162150 [GRCh38] Chr11:76873196 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.6475A>G (p.Asn2159Asp) |
single nucleotide variant |
Usher syndrome type 1B [RCV001829712]|not specified [RCV000611400] |
Chr11:77213896 [GRCh38] Chr11:76924941 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.3503+9C>T |
single nucleotide variant |
not provided [RCV000927420]|not specified [RCV000614173] |
Chr11:77184724 [GRCh38] Chr11:76895769 [GRCh37] Chr11:11q13.5 |
likely benign|conflicting interpretations of pathogenicity |
NM_000260.4(MYO7A):c.5480+10G>A |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 11 [RCV001112057]|Autosomal recessive nonsyndromic hearing loss 2 [RCV001112058]|Usher syndrome type 1 [RCV001112056]|not provided [RCV000594036] |
Chr11:77204239 [GRCh38] Chr11:76915284 [GRCh37] Chr11:11q13.5 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_000260.4(MYO7A):c.5857-7A>C |
single nucleotide variant |
not specified [RCV000608823] |
Chr11:77208423 [GRCh38] Chr11:76919468 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.3583G>A (p.Val1195Met) |
single nucleotide variant |
not provided [RCV002529350]|not specified [RCV000611507] |
Chr11:77189423 [GRCh38] Chr11:76900468 [GRCh37] Chr11:11q13.5 |
likely benign|uncertain significance |
NM_000260.4(MYO7A):c.1555-15C>T |
single nucleotide variant |
not provided [RCV002065198]|not specified [RCV000611743] |
Chr11:77162838 [GRCh38] Chr11:76873884 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.5641G>A (p.Gly1881Arg) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 11 [RCV002483670]|Usher syndrome type 1B [RCV001272815]|not provided [RCV001351961]|not specified [RCV000614677] |
Chr11:77206101 [GRCh38] Chr11:76917146 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.2248C>T (p.Leu750Phe) |
single nucleotide variant |
Inborn genetic diseases [RCV003160069]|Usher syndrome type 1B [RCV001272501]|not provided [RCV002529340]|not specified [RCV000614683] |
Chr11:77177609 [GRCh38] Chr11:76888655 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.4505A>G (p.Asp1502Gly) |
single nucleotide variant |
Deafness [RCV000679827]|Hearing loss, autosomal recessive [RCV001291098]|Usher syndrome type 1B [RCV001834957]|not provided [RCV001091734]|not specified [RCV000604476] |
Chr11:77198558 [GRCh38] Chr11:76909603 [GRCh37] Chr11:11q13.5 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
NM_000260.4(MYO7A):c.6267A>G (p.Ala2089=) |
single nucleotide variant |
not provided [RCV001446413]|not specified [RCV000609235] |
Chr11:77211850 [GRCh38] Chr11:76922895 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.6622C>T (p.Gln2208Ter) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 11 [RCV003155246]|Usher syndrome type 1B [RCV001829700]|not provided [RCV002307559]|not specified [RCV000599670] |
Chr11:77214670 [GRCh38] Chr11:76925715 [GRCh37] Chr11:11q13.5 |
likely pathogenic|uncertain significance |
NM_000260.4(MYO7A):c.614T>C (p.Ile205Thr) |
single nucleotide variant |
Retinal dystrophy [RCV001075326]|Usher syndrome type 1B [RCV001274691]|not provided [RCV000730421]|not specified [RCV000604529] |
Chr11:77156883 [GRCh38] Chr11:76867929 [GRCh37] Chr11:11q13.5 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_000260.4(MYO7A):c.1299C>T (p.Ile433=) |
single nucleotide variant |
Usher syndrome type 1B [RCV001829671]|not provided [RCV000595803] |
Chr11:77161071 [GRCh38] Chr11:76872117 [GRCh37] Chr11:11q13.5 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_000260.4(MYO7A):c.2361C>A (p.Tyr787Ter) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 2 [RCV000670160] |
Chr11:77179123 [GRCh38] Chr11:76890169 [GRCh37] Chr11:11q13.5 |
likely pathogenic |
NM_000260.4(MYO7A):c.2759G>T (p.Arg920Leu) |
single nucleotide variant |
Usher syndrome type 1B [RCV001834923]|not provided [RCV000992402]|not specified [RCV000600345] |
Chr11:77181444 [GRCh38] Chr11:76892490 [GRCh37] Chr11:11q13.5 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_000260.4(MYO7A):c.4222C>T (p.Arg1408Cys) |
single nucleotide variant |
Usher syndrome type 1 [RCV001839013]|Usher syndrome type 1B [RCV001829649]|not provided [RCV000594875] |
Chr11:77194423 [GRCh38] Chr11:76905468 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.133G>T (p.Glu45Ter) |
single nucleotide variant |
not provided [RCV000597639] |
Chr11:77147798 [GRCh38] Chr11:76858844 [GRCh37] Chr11:11q13.5 |
pathogenic |
NM_000260.4(MYO7A):c.1690+15C>T |
single nucleotide variant |
not provided [RCV002062144]|not specified [RCV000600785] |
Chr11:77163003 [GRCh38] Chr11:76874049 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.5339A>C (p.Tyr1780Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV000622287] |
Chr11:77204088 [GRCh38] Chr11:76915133 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.4033TTC[1] (p.Phe1346del) |
microsatellite |
Autosomal recessive nonsyndromic hearing loss 2 [RCV000673400]|not provided [RCV002464287] |
Chr11:77192157..77192159 [GRCh38] Chr11:76903202..76903204 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.1797+8G>A |
single nucleotide variant |
not provided [RCV001490227]|not specified [RCV000601404] |
Chr11:77166170 [GRCh38] Chr11:76877216 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.639C>T (p.Phe213=) |
single nucleotide variant |
Usher syndrome type 1B [RCV001834955]|not provided [RCV000941378]|not specified [RCV000601684] |
Chr11:77156908 [GRCh38] Chr11:76867954 [GRCh37] Chr11:11q13.5 |
benign|likely benign |
NM_000260.4(MYO7A):c.1588_1605dup (p.Ser530_Asn535dup) |
duplication |
Autosomal recessive nonsyndromic hearing loss 2 [RCV000671947] |
Chr11:77162882..77162883 [GRCh38] Chr11:76873928..76873929 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.5259del (p.Lys1753fs) |
deletion |
Autosomal recessive nonsyndromic hearing loss 2 [RCV000672007]|not provided [RCV002532120] |
Chr11:77203150 [GRCh38] Chr11:76914195 [GRCh37] Chr11:11q13.5 |
pathogenic|likely pathogenic |
NM_000260.4(MYO7A):c.3998_4012del (p.Gln1333_Glu1337del) |
deletion |
Autosomal recessive nonsyndromic hearing loss 2 [RCV000672154] |
Chr11:77192118..77192132 [GRCh38] Chr11:76903163..76903177 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.4338GAG[1] (p.Arg1448del) |
microsatellite |
Autosomal recessive nonsyndromic hearing loss 2 [RCV000672831]|not provided [RCV001855585] |
Chr11:77197495..77197497 [GRCh38] Chr11:76908540..76908542 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.117_132+6del |
deletion |
Autosomal recessive nonsyndromic hearing loss 2 [RCV000672865] |
Chr11:77142805..77142826 [GRCh38] Chr11:76853851..76853872 [GRCh37] Chr11:11q13.5 |
likely pathogenic |
NM_000260.4(MYO7A):c.5960_5963dup (p.Tyr1989fs) |
microsatellite |
Autosomal recessive nonsyndromic hearing loss 2 [RCV000673007] |
Chr11:77208706..77208707 [GRCh38] Chr11:76919751..76919752 [GRCh37] Chr11:11q13.5 |
likely pathogenic |
NM_000260.4(MYO7A):c.2386C>T (p.Arg796Trp) |
single nucleotide variant |
Hearing impairment [RCV001375469]|not provided [RCV000658618] |
Chr11:77179753 [GRCh38] Chr11:76890799 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.4297del (p.Gln1433fs) |
deletion |
Autosomal recessive nonsyndromic hearing loss 2 [RCV000671977] |
Chr11:77194496 [GRCh38] Chr11:76905541 [GRCh37] Chr11:11q13.5 |
pathogenic |
NM_000260.4(MYO7A):c.2461C>T (p.Gln821Ter) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 2 [RCV000664644]|not provided [RCV001861737] |
Chr11:77179828 [GRCh38] Chr11:76890874 [GRCh37] Chr11:11q13.5 |
pathogenic |
NM_000260.4(MYO7A):c.6433del (p.Thr2145fs) |
deletion |
Autosomal recessive nonsyndromic hearing loss 2 [RCV000673384] |
Chr11:77213027 [GRCh38] Chr11:76924072 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.1183C>T (p.Arg395Cys) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 11 [RCV002485553]|Autosomal recessive nonsyndromic hearing loss 2 [RCV000670895]|Hearing loss, autosomal recessive [RCV001291468]|Nonsyndromic genetic hearing loss [RCV001261013]|Usher syndrome type 1B [RCV001829868]|not provided [RCV001067075] |
Chr11:77160265 [GRCh38] Chr11:76871311 [GRCh37] Chr11:11q13.5 |
pathogenic|likely pathogenic|uncertain significance |
NM_000260.4(MYO7A):c.5632del (p.Ala1877_Leu1878insTer) |
deletion |
Autosomal recessive nonsyndromic hearing loss 2 [RCV000672591]|not provided [RCV001388427] |
Chr11:77205611 [GRCh38] Chr11:76916656 [GRCh37] Chr11:11q13.5 |
pathogenic |
NM_000260.4(MYO7A):c.5560G>A (p.Val1854Met) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 2 [RCV000671222]|not provided [RCV001855555] |
Chr11:77205541 [GRCh38] Chr11:76916586 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.4442-1G>C |
single nucleotide variant |
Hearing impairment [RCV001375470]|not provided [RCV000658619] |
Chr11:77198494 [GRCh38] Chr11:76909539 [GRCh37] Chr11:11q13.5 |
pathogenic|likely pathogenic |
NM_000260.4(MYO7A):c.1343+1G>A |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 2 [RCV000664858] |
Chr11:77161116 [GRCh38] Chr11:76872162 [GRCh37] Chr11:11q13.5 |
likely pathogenic |
NM_000260.4(MYO7A):c.4837_4839dup (p.Asp1613dup) |
duplication |
Autosomal recessive nonsyndromic hearing loss 2 [RCV000664883]|not provided [RCV001855433] |
Chr11:77199802..77199803 [GRCh38] Chr11:76910847..76910848 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.1172C>T (p.Ala391Val) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 2 [RCV000673509] |
Chr11:77160254 [GRCh38] Chr11:76871300 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.54G>C (p.Gln18His) |
single nucleotide variant |
Usher syndrome type 1B [RCV001835061]|not provided [RCV000658025] |
Chr11:77142744 [GRCh38] Chr11:76853790 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.4828dup (p.Ala1610fs) |
duplication |
Autosomal recessive nonsyndromic hearing loss 2 [RCV000669030] |
Chr11:77199792..77199793 [GRCh38] Chr11:76910837..76910838 [GRCh37] Chr11:11q13.5 |
likely pathogenic |
NM_000260.4(MYO7A):c.3504-1G>C |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 2 [RCV000670122]|not provided [RCV001855536] |
Chr11:77189343 [GRCh38] Chr11:76900388 [GRCh37] Chr11:11q13.5 |
pathogenic |
NM_000260.4(MYO7A):c.4642del (p.Gly1547_Leu1548insTer) |
deletion |
Autosomal recessive nonsyndromic hearing loss 2 [RCV000670858]|not provided [RCV001243996] |
Chr11:77199608 [GRCh38] Chr11:76910653 [GRCh37] Chr11:11q13.5 |
pathogenic|likely pathogenic |
NM_000260.4(MYO7A):c.133-2A>C |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 2 [RCV000671042] |
Chr11:77147796 [GRCh38] Chr11:76858842 [GRCh37] Chr11:11q13.5 |
likely pathogenic |
NM_000260.4(MYO7A):c.285+2T>G |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 11 [RCV002485549]|Autosomal recessive nonsyndromic hearing loss 2 [RCV000669696]|Usher syndrome type 1 [RCV001003079]|not provided [RCV000823085] |
Chr11:77147952 [GRCh38] Chr11:76858998 [GRCh37] Chr11:11q13.5 |
pathogenic|likely pathogenic |
NM_000260.4(MYO7A):c.3594C>A (p.Cys1198Ter) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 11 [RCV002499178]|Autosomal recessive nonsyndromic hearing loss 2 [RCV000671459] |
Chr11:77189434 [GRCh38] Chr11:76900479 [GRCh37] Chr11:11q13.5 |
pathogenic |
NM_000260.4(MYO7A):c.4845del (p.Asn1616fs) |
deletion |
Autosomal recessive nonsyndromic hearing loss 2 [RCV000671875] |
Chr11:77199808 [GRCh38] Chr11:76910853 [GRCh37] Chr11:11q13.5 |
likely pathogenic |
NM_000260.4(MYO7A):c.5543del (p.Asn1848fs) |
deletion |
Autosomal recessive nonsyndromic hearing loss 2 [RCV000671898]|not provided [RCV002531299] |
Chr11:77205523 [GRCh38] Chr11:76916568 [GRCh37] Chr11:11q13.5 |
pathogenic|likely pathogenic |
NM_000260.4(MYO7A):c.3924G>A (p.Lys1308=) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 2 [RCV000673613] |
Chr11:77190870 [GRCh38] Chr11:76901915 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.6349G>T (p.Val2117Leu) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 2 [RCV000670000] |
Chr11:77211932 [GRCh38] Chr11:76922977 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.318C>G (p.Asn106Lys) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 2 [RCV000673822] |
Chr11:77155939 [GRCh38] Chr11:76866985 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.6235C>T (p.Arg2079Trp) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 11 [RCV002507154]|Usher syndrome type 1 [RCV001810468]|Usher syndrome type 1B [RCV001275533]|not provided [RCV001043905] |
Chr11:77211335 [GRCh38] Chr11:76922380 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.2283-2_2293del |
deletion |
Autosomal recessive nonsyndromic hearing loss 2 [RCV000666719]|not provided [RCV002532055] |
Chr11:77179039..77179051 [GRCh38] Chr11:76890085..76890097 [GRCh37] Chr11:11q13.5 |
likely pathogenic |
NM_000260.4(MYO7A):c.6238-2A>C |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 2 [RCV000666730]|not provided [RCV001855465] |
Chr11:77211819 [GRCh38] Chr11:76922864 [GRCh37] Chr11:11q13.5 |
likely pathogenic |
NM_000260.4(MYO7A):c.1142C>T (p.Thr381Met) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 11 [RCV001112401]|Autosomal recessive nonsyndromic hearing loss 2 [RCV000667999]|Autosomal recessive nonsyndromic hearing loss 2 [RCV001111948]|Usher syndrome type 1 [RCV001111949]|not provided [RCV002530732]|not specified [RCV003323668] |
Chr11:77160224 [GRCh38] Chr11:76871270 [GRCh37] Chr11:11q13.5 |
likely benign|uncertain significance |
NM_000260.4(MYO7A):c.1575_1592del (p.Ser530_Asn535del) |
deletion |
Autosomal recessive nonsyndromic hearing loss 2 [RCV000668040] |
Chr11:77162873..77162890 [GRCh38] Chr11:76873919..76873936 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.4445C>T (p.Pro1482Leu) |
single nucleotide variant |
Usher syndrome type 1B [RCV001828626]|not provided [RCV001202713] |
Chr11:77198498 [GRCh38] Chr11:76909543 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.3797A>G (p.Asp1266Gly) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 2 [RCV000674032]|Usher syndrome type 1B [RCV001830461]|not provided [RCV001315657] |
Chr11:77190743 [GRCh38] Chr11:76901788 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.3576G>A (p.Trp1192Ter) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 2 [RCV000665547]|Autosomal recessive nonsyndromic hearing loss 2 [RCV000770843]|not provided [RCV001868204] |
Chr11:77189416 [GRCh38] Chr11:76900461 [GRCh37] Chr11:11q13.5 |
pathogenic|likely pathogenic |
NM_000260.4(MYO7A):c.487G>A (p.Gly163Arg) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 2 [RCV000668444]|Usher syndrome [RCV003235337]|Usher syndrome type 1 [RCV003106015]|Usher syndrome type 1B [RCV001835089]|not provided [RCV001378983] |
Chr11:77156676 [GRCh38] Chr11:76867722 [GRCh37] Chr11:11q13.5 |
pathogenic|likely pathogenic |
NM_000260.4(MYO7A):c.4018delinsCC (p.Ala1340fs) |
indel |
Autosomal recessive nonsyndromic hearing loss 2 [RCV000671534] |
Chr11:77192144 [GRCh38] Chr11:76903189 [GRCh37] Chr11:11q13.5 |
likely pathogenic |
NM_000260.4(MYO7A):c.1691-2A>G |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 2 [RCV000672185] |
Chr11:77166054 [GRCh38] Chr11:76877100 [GRCh37] Chr11:11q13.5 |
likely pathogenic |
NM_000260.4(MYO7A):c.3028_3029insTACACCCGGTTGTCC (p.Phe1009_Gln1010insLeuHisProValVal) |
insertion |
Autosomal recessive nonsyndromic hearing loss 2 [RCV000665592] |
Chr11:77182071..77182072 [GRCh38] Chr11:76893117..76893118 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.5065G>A (p.Asp1689Asn) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 11 [RCV002493086]|Autosomal recessive nonsyndromic hearing loss 2 [RCV000665822]|not provided [RCV002532047] |
Chr11:77202321 [GRCh38] Chr11:76913366 [GRCh37] Chr11:11q13.5 |
likely benign|uncertain significance |
NM_000260.4(MYO7A):c.224dup (p.Asp75fs) |
duplication |
Autosomal recessive nonsyndromic hearing loss 2 [RCV000668615]|not provided [RCV001383044] |
Chr11:77147888..77147889 [GRCh38] Chr11:76858934..76858935 [GRCh37] Chr11:11q13.5 |
pathogenic|likely pathogenic |
NM_000260.4(MYO7A):c.1190C>A (p.Ala397Asp) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 11 [RCV002477494]|Retinal dystrophy [RCV001075552]|Usher syndrome type 1 [RCV001810472]|not provided [RCV000812299] |
Chr11:77160272 [GRCh38] Chr11:76871318 [GRCh37] Chr11:11q13.5 |
pathogenic|likely pathogenic |
NM_000260.4(MYO7A):c.1935+1G>C |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 2 [RCV000665847] |
Chr11:77172886 [GRCh38] Chr11:76883932 [GRCh37] Chr11:11q13.5 |
likely pathogenic |
NM_000260.4(MYO7A):c.1969C>T (p.Arg657Trp) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 11 [RCV000763276]|Autosomal recessive nonsyndromic hearing loss 2 [RCV000674391]|Autosomal recessive nonsyndromic hearing loss 2 [RCV001004800]|not provided [RCV001854837] |
Chr11:77174789 [GRCh38] Chr11:76885835 [GRCh37] Chr11:11q13.5 |
pathogenic|likely pathogenic |
NM_000260.4(MYO7A):c.4659_4660del (p.Cys1554fs) |
deletion |
Autosomal recessive nonsyndromic hearing loss 2 [RCV000674582] |
Chr11:77199625..77199626 [GRCh38] Chr11:76910670..76910671 [GRCh37] Chr11:11q13.5 |
likely pathogenic |
NM_000260.4(MYO7A):c.4039C>A (p.Arg1347Ser) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 2 [RCV000666902] |
Chr11:77192165 [GRCh38] Chr11:76903210 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.2339del (p.Gly780fs) |
deletion |
Autosomal recessive nonsyndromic hearing loss 2 [RCV000681547]|Hearing loss, autosomal recessive [RCV001291472] |
Chr11:77179098 [GRCh38] Chr11:76890144 [GRCh37] Chr11:11q13.5 |
pathogenic|likely pathogenic |
NM_000260.4(MYO7A):c.3728C>G (p.Pro1243Arg) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 2 [RCV000681546]|Hearing loss, autosomal recessive [RCV001291097] |
Chr11:77190117 [GRCh38] Chr11:76901162 [GRCh37] Chr11:11q13.5 |
pathogenic|likely pathogenic |
NM_000260.4(MYO7A):c.20G>T (p.Gly7Val) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 2 [RCV000681538]|Hearing loss, autosomal recessive [RCV001291461]|not provided [RCV001212886] |
Chr11:77142710 [GRCh38] Chr11:76853756 [GRCh37] Chr11:11q13.5 |
pathogenic|likely pathogenic |
NM_000260.4(MYO7A):c.6478T>G (p.Trp2160Gly) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 2 [RCV000672842] |
Chr11:77213899 [GRCh38] Chr11:76924944 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.5229del (p.Leu1744fs) |
deletion |
Autosomal recessive nonsyndromic hearing loss 2 [RCV000673005] |
Chr11:77203119 [GRCh38] Chr11:76914164 [GRCh37] Chr11:11q13.5 |
likely pathogenic |
NM_000260.4(MYO7A):c.5581C>T (p.Arg1861Ter) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 11 [RCV002507176]|Autosomal recessive nonsyndromic hearing loss 2 [RCV000673133]|Usher syndrome type 1 [RCV001003089]|Usher syndrome type 1B [RCV001835911]|not provided [RCV001381202] |
Chr11:77205562 [GRCh38] Chr11:76916607 [GRCh37] Chr11:11q13.5 |
pathogenic |
NM_000260.4(MYO7A):c.47T>A (p.Leu16Ter) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 2 [RCV000664572]|not provided [RCV000813222] |
Chr11:77142737 [GRCh38] Chr11:76853783 [GRCh37] Chr11:11q13.5 |
pathogenic|likely pathogenic |
NM_000260.4(MYO7A):c.3815_3822del (p.Leu1272fs) |
deletion |
Autosomal recessive nonsyndromic hearing loss 2 [RCV000674688] |
Chr11:77190761..77190768 [GRCh38] Chr11:76901806..76901813 [GRCh37] Chr11:11q13.5 |
likely pathogenic |
NM_000260.4(MYO7A):c.6051+1G>A |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 2 [RCV000674779]|not provided [RCV001228076] |
Chr11:77208804 [GRCh38] Chr11:76919849 [GRCh37] Chr11:11q13.5 |
pathogenic|likely pathogenic |
NM_000260.4(MYO7A):c.397C>G (p.His133Asp) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 2 [RCV000667248]|not provided [RCV002530709] |
Chr11:77156018 [GRCh38] Chr11:76867064 [GRCh37] Chr11:11q13.5 |
pathogenic|uncertain significance |
NM_000260.4(MYO7A):c.1189G>A (p.Ala397Thr) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 2 [RCV000669802]|not provided [RCV001868236] |
Chr11:77160271 [GRCh38] Chr11:76871317 [GRCh37] Chr11:11q13.5 |
pathogenic|likely pathogenic|uncertain significance |
NM_000260.4(MYO7A):c.3310A>T (p.Lys1104Ter) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 2 [RCV000673719] |
Chr11:77183092 [GRCh38] Chr11:76894137 [GRCh37] Chr11:11q13.5 |
likely pathogenic |
NM_000260.4(MYO7A):c.3504-2A>G |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 2 [RCV000673745] |
Chr11:77189342 [GRCh38] Chr11:76900387 [GRCh37] Chr11:11q13.5 |
likely pathogenic |
NM_000260.4(MYO7A):c.4029G>C (p.Arg1343Ser) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 2 [RCV000665101] |
Chr11:77192155 [GRCh38] Chr11:76903200 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.5043+1G>T |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 2 [RCV000673825]|not provided [RCV002532154] |
Chr11:77201639 [GRCh38] Chr11:76912684 [GRCh37] Chr11:11q13.5 |
likely pathogenic |
NM_000260.4(MYO7A):c.4108_4111del (p.Gln1370fs) |
deletion |
Autosomal recessive nonsyndromic hearing loss 2 [RCV000674024]|not provided [RCV001067344] |
Chr11:77192233..77192236 [GRCh38] Chr11:76903278..76903281 [GRCh37] Chr11:11q13.5 |
pathogenic|likely pathogenic |
NM_000260.4(MYO7A):c.1798-3C>G |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 2 [RCV000665408] |
Chr11:77172745 [GRCh38] Chr11:76883791 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.471-1G>A |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 2 [RCV000673992]|not provided [RCV001868273] |
Chr11:77156659 [GRCh38] Chr11:76867705 [GRCh37] Chr11:11q13.5 |
likely pathogenic |
NM_000260.4(MYO7A):c.196_210del (p.Gly66_Met70del) |
deletion |
Autosomal recessive nonsyndromic hearing loss 2 [RCV000671346] |
Chr11:77147861..77147875 [GRCh38] Chr11:76858907..76858921 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.5177C>T (p.Pro1726Leu) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 2 [RCV000671432]|not provided [RCV001531118] |
Chr11:77203068 [GRCh38] Chr11:76914113 [GRCh37] Chr11:11q13.5 |
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
NM_000260.4(MYO7A):c.3631-1G>C |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 2 [RCV000671701]|not provided [RCV001236089] |
Chr11:77190019 [GRCh38] Chr11:76901064 [GRCh37] Chr11:11q13.5 |
likely pathogenic |
NM_000260.4(MYO7A):c.5856G>A (p.Lys1952=) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 2 [RCV000672578]|not provided [RCV001242938] |
Chr11:77207402 [GRCh38] Chr11:76918447 [GRCh37] Chr11:11q13.5 |
pathogenic|likely pathogenic |
NM_000260.4(MYO7A):c.5753T>A (p.Val1918Glu) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 2 [RCV000674372] |
Chr11:77207299 [GRCh38] Chr11:76918344 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.5013del (p.Thr1672fs) |
deletion |
Autosomal recessive nonsyndromic hearing loss 2 [RCV000670888] |
Chr11:77201606 [GRCh38] Chr11:76912651 [GRCh37] Chr11:11q13.5 |
likely pathogenic |
NM_000260.4(MYO7A):c.1798-1G>A |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 2 [RCV000674069]|not provided [RCV001379546] |
Chr11:77172747 [GRCh38] Chr11:76883793 [GRCh37] Chr11:11q13.5 |
pathogenic|likely pathogenic |
NM_000260.4(MYO7A):c.3924+1G>C |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 2 [RCV000674211]|not provided [RCV001385690] |
Chr11:77190871 [GRCh38] Chr11:76901916 [GRCh37] Chr11:11q13.5 |
pathogenic|likely pathogenic |
NM_000260.4(MYO7A):c.5168+2T>C |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 2 [RCV000674217]|not provided [RCV001206652] |
Chr11:77202426 [GRCh38] Chr11:76913471 [GRCh37] Chr11:11q13.5 |
pathogenic|likely pathogenic |
NM_000260.4(MYO7A):c.4254del (p.Asp1419fs) |
deletion |
Autosomal recessive nonsyndromic hearing loss 2 [RCV000667646]|not provided [RCV001237674] |
Chr11:77194452 [GRCh38] Chr11:76905497 [GRCh37] Chr11:11q13.5 |
pathogenic|likely pathogenic |
NM_000260.4(MYO7A):c.6220C>T (p.Pro2074Ser) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 2 [RCV000667691] |
Chr11:77211320 [GRCh38] Chr11:76922365 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.4117C>T (p.Arg1373Ter) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 11 [RCV000763282]|Autosomal recessive nonsyndromic hearing loss 2 [RCV000666120]|Usher syndrome [RCV003389476]|Usher syndrome type 1B [RCV001835074]|not provided [RCV001038543] |
Chr11:77192243 [GRCh38] Chr11:76903288 [GRCh37] Chr11:11q13.5 |
pathogenic |
NM_000260.4(MYO7A):c.18+2T>A |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 2 [RCV000674636]|not provided [RCV001855611] |
Chr11:77130654 [GRCh38] Chr11:76841700 [GRCh37] Chr11:11q13.5 |
likely pathogenic |
NM_000260.4(MYO7A):c.133-2A>G |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 2 [RCV000012628]|Autosomal recessive nonsyndromic hearing loss 2 [RCV000671659]|MYO7A-Related Disorders [RCV001269086]|Usher syndrome type 1B [RCV001830451]|not provided [RCV001383043] |
Chr11:77147796 [GRCh38] Chr11:76858842 [GRCh37] Chr11:11q13.5 |
pathogenic |
NM_000260.4(MYO7A):c.3397G>A (p.Gly1133Arg) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 2 [RCV000674375]|not provided [RCV002544671] |
Chr11:77184609 [GRCh38] Chr11:76895654 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.2724C>G (p.Asp908Glu) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 2 [RCV000667980]|not provided [RCV002060816] |
Chr11:77181409 [GRCh38] Chr11:76892455 [GRCh37] Chr11:11q13.5 |
likely benign|uncertain significance |
NM_000260.4(MYO7A):c.4894del (p.Leu1632fs) |
deletion |
Autosomal recessive nonsyndromic hearing loss 2 [RCV000668185] |
Chr11:77201488 [GRCh38] Chr11:76912533 [GRCh37] Chr11:11q13.5 |
likely pathogenic |
NM_000260.4(MYO7A):c.3560G>T (p.Ser1187Ile) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 11 [RCV001334333]|Autosomal recessive nonsyndromic hearing loss 2 [RCV000673329] |
Chr11:77189400 [GRCh38] Chr11:76900445 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.5857-2A>G |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 2 [RCV000671897]|not provided [RCV002531298] |
Chr11:77208428 [GRCh38] Chr11:76919473 [GRCh37] Chr11:11q13.5 |
likely pathogenic |
NM_000260.4(MYO7A):c.4569-1G>A |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 2 [RCV000674728]|not provided [RCV001861848] |
Chr11:77199534 [GRCh38] Chr11:76910579 [GRCh37] Chr11:11q13.5 |
likely pathogenic |
NM_000260.4(MYO7A):c.6459del (p.Phe2154fs) |
deletion |
Autosomal recessive nonsyndromic hearing loss 2 [RCV000668360] |
Chr11:77213878 [GRCh38] Chr11:76924923 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.5507T>C (p.Leu1836Pro) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 2 [RCV000668455] |
Chr11:77205488 [GRCh38] Chr11:76916533 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.1591C>T (p.Gln531Ter) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 2 [RCV000668486]|Hearing loss, autosomal recessive [RCV001291470]|not provided [RCV002531200] |
Chr11:77162889 [GRCh38] Chr11:76873935 [GRCh37] Chr11:11q13.5 |
pathogenic|likely pathogenic |
NM_000260.4(MYO7A):c.4024del (p.Trp1342fs) |
deletion |
Autosomal recessive nonsyndromic hearing loss 2 [RCV000666761]|not provided [RCV001389587] |
Chr11:77192150 [GRCh38] Chr11:76903195 [GRCh37] Chr11:11q13.5 |
pathogenic|likely pathogenic |
NM_000260.4(MYO7A):c.3689G>A (p.Arg1230His) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 11 [RCV002507155]|Autosomal recessive nonsyndromic hearing loss 2 [RCV000667036]|Usher syndrome type 1B [RCV001829841]|not provided [RCV001240019] |
Chr11:77190078 [GRCh38] Chr11:76901123 [GRCh37] Chr11:11q13.5 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_000260.4(MYO7A):c.4921G>A (p.Glu1641Lys) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 2 [RCV000667139]|Usher syndrome type 1B [RCV001835081]|not provided [RCV001056892] |
Chr11:77201516 [GRCh38] Chr11:76912561 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.2266C>T (p.Arg756Trp) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 11 [RCV002485530]|Autosomal recessive nonsyndromic hearing loss 2 [RCV000666324]|not provided [RCV002530679] |
Chr11:77177627 [GRCh38] Chr11:76888673 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.2023C>T (p.Arg675Cys) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 11 [RCV003152726]|Autosomal recessive nonsyndromic hearing loss 2 [RCV000674849]|Usher syndrome type 1B [RCV001829885]|not provided [RCV001547725]|not specified [RCV003323677] |
Chr11:77174843 [GRCh38] Chr11:76885889 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.5488dup (p.Glu1830fs) |
duplication |
Autosomal recessive nonsyndromic hearing loss 2 [RCV000668610]|MYO7A-related condition [RCV003403551] |
Chr11:77205468..77205469 [GRCh38] Chr11:76916513..76916514 [GRCh37] Chr11:11q13.5 |
likely pathogenic |
NM_000260.4(MYO7A):c.3G>A (p.Met1Ile) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 2 [RCV000668632]|Meniere disease [RCV001526681]|Usher syndrome type 1B [RCV001829848]|not provided [RCV001203639] |
Chr11:77130637 [GRCh38] Chr11:76841683 [GRCh37] Chr11:11q13.5 |
pathogenic|likely pathogenic |
NM_000260.4(MYO7A):c.2241_2242del (p.Arg747fs) |
microsatellite |
Autosomal recessive nonsyndromic hearing loss 2 [RCV000668658] |
Chr11:77177600..77177601 [GRCh38] Chr11:76888646..76888647 [GRCh37] Chr11:11q13.5 |
likely pathogenic |
NM_000260.4(MYO7A):c.5856+5G>C |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 2 [RCV000681551]|Hearing loss, autosomal recessive [RCV001291105] |
Chr11:77207407 [GRCh38] Chr11:76918452 [GRCh37] Chr11:11q13.5 |
pathogenic|likely pathogenic |
NM_000260.4(MYO7A):c.4919del (p.Gly1640fs) |
deletion |
Autosomal recessive nonsyndromic hearing loss 2 [RCV000665743]|not provided [RCV001855445] |
Chr11:77201512 [GRCh38] Chr11:76912557 [GRCh37] Chr11:11q13.5 |
pathogenic|likely pathogenic |
NM_000260.4(MYO7A):c.3049_3051del (p.Tyr1017del) |
deletion |
Autosomal recessive nonsyndromic hearing loss 2 [RCV000674395] |
Chr11:77182094..77182096 [GRCh38] Chr11:76893140..76893142 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.1403A>G (p.His468Arg) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 11 [RCV002477496]|Autosomal recessive nonsyndromic hearing loss 2 [RCV000668764]|not provided [RCV001724124] |
Chr11:77162179 [GRCh38] Chr11:76873225 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.218T>C (p.Leu73Pro) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 2 [RCV000672457]|Usher syndrome type 1B [RCV001829877]|not provided [RCV001347349]|not specified [RCV003387907] |
Chr11:77147883 [GRCh38] Chr11:76858929 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.392C>T (p.Pro131Leu) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 2 [RCV000673728] |
Chr11:77156013 [GRCh38] Chr11:76867059 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.3298G>T (p.Glu1100Ter) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 2 [RCV000673801]|not provided [RCV001855603] |
Chr11:77183080 [GRCh38] Chr11:76894125 [GRCh37] Chr11:11q13.5 |
pathogenic|likely pathogenic |
NM_000260.4(MYO7A):c.4502_4503del (p.Val1501fs) |
microsatellite |
Autosomal recessive nonsyndromic hearing loss 2 [RCV000665251]|Usher syndrome type 1 [RCV001028035]|not provided [RCV001235336] |
Chr11:77198553..77198554 [GRCh38] Chr11:76909598..76909599 [GRCh37] Chr11:11q13.5 |
pathogenic|likely pathogenic |
NM_000260.4(MYO7A):c.5797del (p.Thr1933fs) |
deletion |
Autosomal recessive nonsyndromic hearing loss 2 [RCV000674703] |
Chr11:77207343 [GRCh38] Chr11:76918388 [GRCh37] Chr11:11q13.5 |
likely pathogenic |
NM_000260.4(MYO7A):c.1997G>A (p.Arg666Gln) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 2 [RCV000672944]|Usher syndrome [RCV001171540]|Usher syndrome type 1 [RCV000988605]|Usher syndrome type 1B [RCV001830456]|not provided [RCV001309116] |
Chr11:77174817 [GRCh38] Chr11:76885863 [GRCh37] Chr11:11q13.5 |
likely pathogenic|uncertain significance |
NM_000260.4(MYO7A):c.29T>C (p.Val10Ala) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 2 [RCV000675065]|Usher syndrome type 1B [RCV001828119]|not provided [RCV001315655] |
Chr11:77142719 [GRCh38] Chr11:76853765 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.6350T>C (p.Val2117Ala) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 2 [RCV000665960] |
Chr11:77211933 [GRCh38] Chr11:76922978 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.616C>T (p.Arg206Cys) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 2 [RCV000665969]|not provided [RCV001855449] |
Chr11:77156885 [GRCh38] Chr11:76867931 [GRCh37] Chr11:11q13.5 |
likely pathogenic|uncertain significance |
NM_000260.4(MYO7A):c.5945-1G>A |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 2 [RCV000673408]|not provided [RCV001041885] |
Chr11:77208696 [GRCh38] Chr11:76919741 [GRCh37] Chr11:11q13.5 |
likely pathogenic |
NM_000260.4(MYO7A):c.19-2A>G |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 2 [RCV000674972] |
Chr11:77142707 [GRCh38] Chr11:76853753 [GRCh37] Chr11:11q13.5 |
pathogenic |
NM_000260.4(MYO7A):c.6321G>A (p.Trp2107Ter) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 2 [RCV000667049]|not provided [RCV001855473] |
Chr11:77211904 [GRCh38] Chr11:76922949 [GRCh37] Chr11:11q13.5 |
pathogenic |
NM_000260.4(MYO7A):c.3437G>A (p.Arg1146Gln) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 2 [RCV000673623]|Usher syndrome type 1B [RCV001829882]|not provided [RCV001317095] |
Chr11:77184649 [GRCh38] Chr11:76895694 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.4184dup (p.Tyr1396fs) |
duplication |
Autosomal recessive nonsyndromic hearing loss 2 [RCV000673649]|Usher syndrome [RCV003389480]|Usher syndrome type 1 [RCV002250680] |
Chr11:77194384..77194385 [GRCh38] Chr11:76905429..76905430 [GRCh37] Chr11:11q13.5 |
pathogenic|likely pathogenic |
NM_000260.4(MYO7A):c.3109-27_3109-7dup |
duplication |
Autosomal recessive nonsyndromic hearing loss 2 [RCV000666662] |
Chr11:77182389..77182390 [GRCh38] Chr11:76893434..76893435 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.6028G>A (p.Asp2010Asn) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 11 [RCV000763284]|Autosomal recessive nonsyndromic hearing loss 2 [RCV000666616]|Usher syndrome type 1B [RCV001835077]|not provided [RCV001239645] |
Chr11:77208780 [GRCh38] Chr11:76919825 [GRCh37] Chr11:11q13.5 |
pathogenic|likely pathogenic |
NM_000260.4(MYO7A):c.5481-1G>C |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 2 [RCV000667676] |
Chr11:77205461 [GRCh38] Chr11:76916506 [GRCh37] Chr11:11q13.5 |
likely pathogenic |
NM_000260.4(MYO7A):c.3364C>A (p.Leu1122Ile) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 11 [RCV002485569]|Deafness [RCV000679824]|Hearing loss, autosomal recessive [RCV001291474]|not provided [RCV001771924]|not specified [RCV003235344] |
Chr11:77183146 [GRCh38] Chr11:76894191 [GRCh37] Chr11:11q13.5 |
pathogenic|likely pathogenic|uncertain significance |
NM_000260.4(MYO7A):c.5326+3A>G |
single nucleotide variant |
Deafness [RCV000679822]|Hearing loss, autosomal recessive [RCV001291100] |
Chr11:77203220 [GRCh38] Chr11:76914265 [GRCh37] Chr11:11q13.5 |
pathogenic|likely pathogenic |
NM_000260.4(MYO7A):c.5522C>G (p.Thr1841Arg) |
single nucleotide variant |
Deafness [RCV000679821]|Hearing loss, autosomal recessive [RCV001291103] |
Chr11:77205503 [GRCh38] Chr11:76916548 [GRCh37] Chr11:11q13.5 |
pathogenic|likely pathogenic |
NM_000260.4(MYO7A):c.5345G>C (p.Gly1782Ala) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 2 [RCV001580535]|Deafness [RCV000679825]|Hearing loss, autosomal recessive [RCV001291101]|not provided [RCV001861875]|not specified [RCV003323681] |
Chr11:77204094 [GRCh38] Chr11:76915139 [GRCh37] Chr11:11q13.5 |
pathogenic|likely pathogenic|uncertain significance |
NM_000260.4(MYO7A):c.3590T>C (p.Leu1197Pro) |
single nucleotide variant |
Deafness [RCV000679826]|Hearing loss, autosomal recessive [RCV001291477] |
Chr11:77189430 [GRCh38] Chr11:76900475 [GRCh37] Chr11:11q13.5 |
pathogenic|likely pathogenic |
NM_000260.4(MYO7A):c.247C>A (p.Arg83Ser) |
single nucleotide variant |
Deafness [RCV000679823]|Hearing loss, autosomal recessive [RCV001291463]|Rare genetic deafness [RCV000825401] |
Chr11:77147912 [GRCh38] Chr11:76858958 [GRCh37] Chr11:11q13.5 |
pathogenic|likely pathogenic|uncertain significance |
GRCh37/hg19 11q13.5-14.1(chr11:76895239-77568340)x3 |
copy number gain |
not provided [RCV000683346] |
Chr11:76895239..77568340 [GRCh37] Chr11:11q13.5-14.1 |
uncertain significance |
NM_000260.4(MYO7A):c.4006C>T (p.Gln1336Ter) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 11 [RCV000763281]|Usher syndrome type 1B [RCV000680440]|not provided [RCV001214311] |
Chr11:77192132 [GRCh38] Chr11:76903177 [GRCh37] Chr11:11q13.5 |
pathogenic|likely pathogenic |
GRCh37/hg19 11q13.4-23.3(chr11:71588805-116680918)x3 |
copy number gain |
not provided [RCV000683374] |
Chr11:71588805..116680918 [GRCh37] Chr11:11q13.4-23.3 |
pathogenic |
NM_000260.4(MYO7A):c.75_82del (p.Ala26fs) |
deletion |
Ear malformation [RCV001814548] |
Chr11:77142763..77142770 [GRCh38] Chr11:76853809..76853816 [GRCh37] Chr11:11q13.5 |
likely pathogenic |
NM_000260.4(MYO7A):c.4852+2T>C |
single nucleotide variant |
Usher syndrome type 1 [RCV001808115] |
Chr11:77199820 [GRCh38] Chr11:76910865 [GRCh37] Chr11:11q13.5 |
likely pathogenic |
NM_000260.4(MYO7A):c.1134_1146dup (p.Ser383fs) |
duplication |
Usher syndrome type 1 [RCV001003082] |
Chr11:77160214..77160215 [GRCh38] Chr11:76871260..76871261 [GRCh37] Chr11:11q13.5 |
pathogenic |
NM_000260.4(MYO7A):c.1168C>T (p.Gln390Ter) |
single nucleotide variant |
Usher syndrome type 1 [RCV001004379]|not provided [RCV003132140] |
Chr11:77160250 [GRCh38] Chr11:76871296 [GRCh37] Chr11:11q13.5 |
likely pathogenic |
NM_000260.4(MYO7A):c.2187+1G>T |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 2 [RCV001809892]|Usher syndrome type 1 [RCV001003085] |
Chr11:77175465 [GRCh38] Chr11:76886511 [GRCh37] Chr11:11q13.5 |
pathogenic|likely pathogenic |
NM_000260.4(MYO7A):c.5069_5070insC (p.Gln1690fs) |
insertion |
Usher syndrome type 1 [RCV001003088] |
Chr11:77202325..77202326 [GRCh38] Chr11:76913370..76913371 [GRCh37] Chr11:11q13.5 |
pathogenic |
NM_000260.4(MYO7A):c.4152+163A>G |
single nucleotide variant |
not provided [RCV001574375] |
Chr11:77192441 [GRCh38] Chr11:76903486 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.2586+209C>T |
single nucleotide variant |
not provided [RCV001582165] |
Chr11:77180162 [GRCh38] Chr11:76891208 [GRCh37] Chr11:11q13.5 |
likely benign |
GRCh37/hg19 11p15.5-q25(chr11:198510-134934063)x3 |
copy number gain |
not provided [RCV000737348] |
Chr11:198510..134934063 [GRCh37] Chr11:11p15.5-q25 |
pathogenic |
GRCh37/hg19 11q13.5(chr11:76895772-76906312)x1 |
copy number loss |
not provided [RCV000737590] |
Chr11:76895772..76906312 [GRCh37] Chr11:11q13.5 |
benign |
GRCh37/hg19 11p15.5-q25(chr11:70864-134938470)x3 |
copy number gain |
not provided [RCV000749874] |
Chr11:70864..134938470 [GRCh37] Chr11:11p15.5-q25 |
pathogenic |
NM_000260.4(MYO7A):c.4107G>T (p.Gln1369His) |
single nucleotide variant |
Hearing impairment [RCV000754556] |
Chr11:77192233 [GRCh38] Chr11:76903278 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.2187+37G>A |
single nucleotide variant |
not provided [RCV001540919] |
Chr11:77175501 [GRCh38] Chr11:76886547 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.132+336C>T |
single nucleotide variant |
not provided [RCV001707144] |
Chr11:77143158 [GRCh38] Chr11:76854204 [GRCh37] Chr11:11q13.5 |
benign |
NM_000260.4(MYO7A):c.3886del (p.Arg1296fs) |
deletion |
Autosomal recessive nonsyndromic hearing loss 2 [RCV001542593] |
Chr11:77190831 [GRCh38] Chr11:76901876 [GRCh37] Chr11:11q13.5 |
likely pathogenic |
NM_000260.4(MYO7A):c.5044-307T>C |
single nucleotide variant |
not provided [RCV001584659] |
Chr11:77201993 [GRCh38] Chr11:76913038 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.6354+206C>A |
single nucleotide variant |
not provided [RCV001668765] |
Chr11:77212143 [GRCh38] Chr11:76923188 [GRCh37] Chr11:11q13.5 |
benign |
NM_000260.4(MYO7A):c.4441+125_4441+128del |
deletion |
not provided [RCV001725266] |
Chr11:77197723..77197726 [GRCh38] Chr11:76908768..76908771 [GRCh37] Chr11:11q13.5 |
benign |
NM_000260.4(MYO7A):c.2905-172_2905-166del |
deletion |
not provided [RCV001725271] |
Chr11:77181773..77181779 [GRCh38] Chr11:76892819..76892825 [GRCh37] Chr11:11q13.5 |
benign |
NM_000260.4(MYO7A):c.3987C>T (p.Tyr1329=) |
single nucleotide variant |
Usher syndrome type 1B [RCV001826989]|not provided [RCV000941299] |
Chr11:77192113 [GRCh38] Chr11:76903158 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.5742+114T>A |
single nucleotide variant |
not provided [RCV001546170] |
Chr11:77206316 [GRCh38] Chr11:76917361 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.6237+87C>A |
single nucleotide variant |
not provided [RCV001583727] |
Chr11:77211424 [GRCh38] Chr11:76922469 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.2797C>T (p.Arg933Cys) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 2 [RCV001580742]|Usher syndrome type 1 [RCV001580743]|not provided [RCV002573268] |
Chr11:77181482 [GRCh38] Chr11:76892528 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.4083C>T (p.Asn1361=) |
single nucleotide variant |
not provided [RCV000978698] |
Chr11:77192209 [GRCh38] Chr11:76903254 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.4852+80A>G |
single nucleotide variant |
not provided [RCV001575448] |
Chr11:77199898 [GRCh38] Chr11:76910943 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.3285+91dup |
duplication |
not provided [RCV001725692] |
Chr11:77182686..77182687 [GRCh38] Chr11:76893731..76893732 [GRCh37] Chr11:11q13.5 |
benign |
NM_000260.4(MYO7A):c.2837T>G (p.Met946Arg) |
single nucleotide variant |
Usher syndrome type 1 [RCV001004381]|not provided [RCV001383211] |
Chr11:77181522 [GRCh38] Chr11:76892568 [GRCh37] Chr11:11q13.5 |
pathogenic|likely pathogenic |
NM_000260.4(MYO7A):c.2081C>T (p.Pro694Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV002533881]|Usher syndrome type 1B [RCV001825508]|not provided [RCV000761793] |
Chr11:77174901 [GRCh38] Chr11:76885947 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.5494C>A (p.Arg1832=) |
single nucleotide variant |
Usher syndrome type 1B [RCV001272813]|not provided [RCV000761795]|not specified [RCV001700303] |
Chr11:77205475 [GRCh38] Chr11:76916520 [GRCh37] Chr11:11q13.5 |
benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_000260.4(MYO7A):c.5228G>A (p.Arg1743Gln) |
single nucleotide variant |
Usher syndrome type 1B [RCV001272809]|not provided [RCV001052995] |
Chr11:77203119 [GRCh38] Chr11:76914164 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.6230G>A (p.Trp2077Ter) |
single nucleotide variant |
not provided [RCV000760715] |
Chr11:77211330 [GRCh38] Chr11:76922375 [GRCh37] Chr11:11q13.5 |
pathogenic |
NM_000260.4(MYO7A):c.6051+207G>A |
single nucleotide variant |
not provided [RCV001586585] |
Chr11:77209010 [GRCh38] Chr11:76920055 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.2399T>C (p.Leu800Pro) |
single nucleotide variant |
not provided [RCV001569407] |
Chr11:77179766 [GRCh38] Chr11:76890812 [GRCh37] Chr11:11q13.5 |
pathogenic |
NM_000260.4(MYO7A):c.2446C>T (p.Arg816Cys) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 11 [RCV001578719]|Autosomal recessive nonsyndromic hearing loss 2 [RCV001578720]|Usher syndrome type 1 [RCV001578721]|Usher syndrome type 1B [RCV001272503]|not provided [RCV001052455] |
Chr11:77179813 [GRCh38] Chr11:76890859 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.19G>A (p.Gly7Arg) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 2 [RCV000988597]|Nonsyndromic genetic hearing loss [RCV001261014]|Usher syndrome type 1B [RCV001827128]|not provided [RCV001036437] |
Chr11:77142709 [GRCh38] Chr11:76853755 [GRCh37] Chr11:11q13.5 |
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
NM_000260.4(MYO7A):c.1708C>T (p.Arg570Ter) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 2 [RCV000988603]|Ear malformation [RCV001814245]|not provided [RCV001869355] |
Chr11:77166073 [GRCh38] Chr11:76877119 [GRCh37] Chr11:11q13.5 |
pathogenic |
NM_000260.4(MYO7A):c.2920C>T (p.Arg974Trp) |
single nucleotide variant |
Usher syndrome type 1B [RCV001832539]|not provided [RCV001060185] |
Chr11:77181966 [GRCh38] Chr11:76893012 [GRCh37] Chr11:11q13.5 |
likely benign|uncertain significance |
NM_000260.4(MYO7A):c.2914C>T (p.Arg972Ter) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 11 [RCV002497440]|Usher syndrome type 1 [RCV001809972]|Usher syndrome type 1B [RCV001832540]|not provided [RCV001060271] |
Chr11:77181960 [GRCh38] Chr11:76893006 [GRCh37] Chr11:11q13.5 |
pathogenic|likely pathogenic |
NM_000260.4(MYO7A):c.4442-1G>A |
single nucleotide variant |
not provided [RCV001054500] |
Chr11:77198494 [GRCh38] Chr11:76909539 [GRCh37] Chr11:11q13.5 |
likely pathogenic |
NM_000260.4(MYO7A):c.1690+116AT[10] |
microsatellite |
not provided [RCV001640959] |
Chr11:77163103..77163104 [GRCh38] Chr11:76874149..76874150 [GRCh37] Chr11:11q13.5 |
benign |
NM_000260.4(MYO7A):c.5327-228A>G |
single nucleotide variant |
not provided [RCV001649347] |
Chr11:77203848 [GRCh38] Chr11:76914893 [GRCh37] Chr11:11q13.5 |
benign |
NM_000260.4(MYO7A):c.1595A>G (p.His532Arg) |
single nucleotide variant |
not provided [RCV001055091] |
Chr11:77162893 [GRCh38] Chr11:76873939 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.3504-331A>G |
single nucleotide variant |
not provided [RCV001565612] |
Chr11:77189013 [GRCh38] Chr11:76900058 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.2500C>T (p.Arg834Cys) |
single nucleotide variant |
Usher syndrome type 1B [RCV001827353]|not provided [RCV001055480]|not specified [RCV001449826] |
Chr11:77179867 [GRCh38] Chr11:76890913 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.4387C>T (p.Arg1463Cys) |
single nucleotide variant |
Usher syndrome type 1B [RCV001271761]|not provided [RCV001055658] |
Chr11:77197544 [GRCh38] Chr11:76908589 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.5326+164G>A |
single nucleotide variant |
not provided [RCV001551560] |
Chr11:77203381 [GRCh38] Chr11:76914426 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.4441+132_4441+197del |
deletion |
not provided [RCV001581211] |
Chr11:77197728..77197793 [GRCh38] Chr11:76908773..76908838 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.286-27G>A |
single nucleotide variant |
not provided [RCV001581361] |
Chr11:77155880 [GRCh38] Chr11:76866926 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.3277G>A (p.Glu1093Lys) |
single nucleotide variant |
Usher syndrome type 1B [RCV001827490]|not provided [RCV001566129] |
Chr11:77182592 [GRCh38] Chr11:76893637 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.470+123C>A |
single nucleotide variant |
not provided [RCV001546976] |
Chr11:77156214 [GRCh38] Chr11:76867260 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.1669A>G (p.Ile557Val) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 11 [RCV001578635]|Autosomal recessive nonsyndromic hearing loss 2 [RCV001578636]|Usher syndrome type 1 [RCV001578637] |
Chr11:77162967 [GRCh38] Chr11:76874013 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.185C>T (p.Thr62Met) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 11 [RCV001578772]|Autosomal recessive nonsyndromic hearing loss 2 [RCV001578773]|Usher syndrome type 1 [RCV001578774] |
Chr11:77147850 [GRCh38] Chr11:76858896 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.593-40G>A |
single nucleotide variant |
not provided [RCV001547836] |
Chr11:77156822 [GRCh38] Chr11:76867868 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.6238-1G>A |
single nucleotide variant |
not provided [RCV001057750] |
Chr11:77211820 [GRCh38] Chr11:76922865 [GRCh37] Chr11:11q13.5 |
likely pathogenic |
NM_000260.4(MYO7A):c.1081-78G>A |
single nucleotide variant |
not provided [RCV001585448] |
Chr11:77160085 [GRCh38] Chr11:76871131 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.5011C>A (p.Pro1671Thr) |
single nucleotide variant |
Usher syndrome type 1B [RCV001827372]|not provided [RCV001058794] |
Chr11:77201606 [GRCh38] Chr11:76912651 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.434T>G (p.Met145Arg) |
single nucleotide variant |
not provided [RCV001889006] |
Chr11:77156055 [GRCh38] Chr11:76867101 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.6181C>T (p.Arg2061Trp) |
single nucleotide variant |
Inborn genetic diseases [RCV003243451]|Usher syndrome type 1B [RCV001275532]|not provided [RCV001059558] |
Chr11:77211281 [GRCh38] Chr11:76922326 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.882_886dup (p.Gln296fs) |
duplication |
Retinitis pigmentosa [RCV000787854] |
Chr11:77158308..77158309 [GRCh38] Chr11:76869354..76869355 [GRCh37] Chr11:11q13.5 |
likely pathogenic |
NM_000260.4(MYO7A):c.5742+27C>T |
single nucleotide variant |
not provided [RCV001575167] |
Chr11:77206229 [GRCh38] Chr11:76917274 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.1797+309G>T |
single nucleotide variant |
not provided [RCV001575788] |
Chr11:77166471 [GRCh38] Chr11:76877517 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.4323+83G>A |
single nucleotide variant |
not provided [RCV001610229] |
Chr11:77194607 [GRCh38] Chr11:76905652 [GRCh37] Chr11:11q13.5 |
benign |
NM_000260.4(MYO7A):c.5168+69G>A |
single nucleotide variant |
not provided [RCV001568698] |
Chr11:77202493 [GRCh38] Chr11:76913538 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.5857-127G>C |
single nucleotide variant |
not provided [RCV001550120] |
Chr11:77208303 [GRCh38] Chr11:76919348 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.5857-296G>A |
single nucleotide variant |
not provided [RCV001666579] |
Chr11:77208134 [GRCh38] Chr11:76919179 [GRCh37] Chr11:11q13.5 |
benign |
NM_000260.4(MYO7A):c.4013G>A (p.Arg1338His) |
single nucleotide variant |
Usher syndrome type 1B [RCV001832780]|not provided [RCV001568847] |
Chr11:77192139 [GRCh38] Chr11:76903184 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.5742+223A>C |
single nucleotide variant |
not provided [RCV001584010] |
Chr11:77206425 [GRCh38] Chr11:76917470 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.1901G>A (p.Arg634Gln) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 2 [RCV000988604]|Usher syndrome type 1B [RCV001827130]|not provided [RCV000994686]|not specified [RCV001195389] |
Chr11:77172851 [GRCh38] Chr11:76883897 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.3963C>T (p.Asp1321=) |
single nucleotide variant |
not provided [RCV000921496] |
Chr11:77192089 [GRCh38] Chr11:76903134 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.19-9C>T |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 11 [RCV001109244]|Autosomal recessive nonsyndromic hearing loss 2 [RCV001109245]|Usher syndrome type 1 [RCV001109243]|Usher syndrome type 1B [RCV001274685]|not provided [RCV000925705] |
Chr11:77142700 [GRCh38] Chr11:76853746 [GRCh37] Chr11:11q13.5 |
likely benign|uncertain significance |
NM_000260.4(MYO7A):c.6438+10G>A |
single nucleotide variant |
not provided [RCV000981962] |
Chr11:77213045 [GRCh38] Chr11:76924090 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.6639C>T (p.Ser2213=) |
single nucleotide variant |
not provided [RCV000969861] |
Chr11:77214687 [GRCh38] Chr11:76925732 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.1344-9C>A |
single nucleotide variant |
not provided [RCV000943898] |
Chr11:77162111 [GRCh38] Chr11:76873157 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.1691-4G>A |
single nucleotide variant |
not provided [RCV000945122] |
Chr11:77166052 [GRCh38] Chr11:76877098 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.4407C>T (p.Leu1469=) |
single nucleotide variant |
not provided [RCV000943071] |
Chr11:77197564 [GRCh38] Chr11:76908609 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.6238-10G>A |
single nucleotide variant |
not provided [RCV000928553] |
Chr11:77211811 [GRCh38] Chr11:76922856 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.19-4A>T |
single nucleotide variant |
not provided [RCV000928565] |
Chr11:77142705 [GRCh38] Chr11:76853751 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.894C>T (p.Tyr298=) |
single nucleotide variant |
Usher syndrome type 1B [RCV001826942]|not provided [RCV000929571] |
Chr11:77158321 [GRCh38] Chr11:76869367 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.6378T>G (p.Pro2126=) |
single nucleotide variant |
not provided [RCV000922993] |
Chr11:77212975 [GRCh38] Chr11:76924020 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.3369A>G (p.Thr1123=) |
single nucleotide variant |
not provided [RCV000923040] |
Chr11:77183151 [GRCh38] Chr11:76894196 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.2475C>T (p.Arg825=) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 11 [RCV001110784]|Autosomal recessive nonsyndromic hearing loss 2 [RCV001110782]|Usher syndrome type 1 [RCV001110783]|Usher syndrome type 1B [RCV001276690]|not provided [RCV000971060] |
Chr11:77179842 [GRCh38] Chr11:76890888 [GRCh37] Chr11:11q13.5 |
likely benign|uncertain significance |
NM_000260.4(MYO7A):c.4324-7C>T |
single nucleotide variant |
not provided [RCV000983041] |
Chr11:77197474 [GRCh38] Chr11:76908519 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.3954C>T (p.His1318=) |
single nucleotide variant |
Usher syndrome type 1B [RCV001271755]|not provided [RCV000983071] |
Chr11:77192080 [GRCh38] Chr11:76903125 [GRCh37] Chr11:11q13.5 |
likely benign|uncertain significance |
NM_000260.4(MYO7A):c.4668G>A (p.Pro1556=) |
single nucleotide variant |
Usher syndrome type 1B [RCV001271765]|not provided [RCV000921949] |
Chr11:77199634 [GRCh38] Chr11:76910679 [GRCh37] Chr11:11q13.5 |
benign|likely benign|uncertain significance |
NM_000260.4(MYO7A):c.2847C>T (p.Phe949=) |
single nucleotide variant |
not provided [RCV000943256] |
Chr11:77181532 [GRCh38] Chr11:76892578 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.3924+8C>T |
single nucleotide variant |
Usher syndrome type 1B [RCV001271753]|not provided [RCV000975628] |
Chr11:77190878 [GRCh38] Chr11:76901923 [GRCh37] Chr11:11q13.5 |
likely benign|uncertain significance |
NM_000260.4(MYO7A):c.5079C>T (p.Asp1693=) |
single nucleotide variant |
not provided [RCV000948869] |
Chr11:77202335 [GRCh38] Chr11:76913380 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.5253G>A (p.Pro1751=) |
single nucleotide variant |
Usher syndrome type 1B [RCV001272811]|not provided [RCV000921306] |
Chr11:77203144 [GRCh38] Chr11:76914189 [GRCh37] Chr11:11q13.5 |
likely benign|uncertain significance |
NM_000260.4(MYO7A):c.3120G>A (p.Ala1040=) |
single nucleotide variant |
not provided [RCV000982626] |
Chr11:77182435 [GRCh38] Chr11:76893480 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.3660G>A (p.Pro1220=) |
single nucleotide variant |
Usher syndrome type 1B [RCV001279794]|not provided [RCV000928804] |
Chr11:77190049 [GRCh38] Chr11:76901094 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.5667G>A (p.Leu1889=) |
single nucleotide variant |
Usher syndrome type 1B [RCV001272816]|not provided [RCV000879658] |
Chr11:77206127 [GRCh38] Chr11:76917172 [GRCh37] Chr11:11q13.5 |
likely benign|uncertain significance |
NM_000260.4(MYO7A):c.2695-6G>A |
single nucleotide variant |
not provided [RCV000928263] |
Chr11:77181374 [GRCh38] Chr11:76892420 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.875G>A (p.Arg292Gln) |
single nucleotide variant |
Usher syndrome type 1B [RCV001274694]|not provided [RCV000926132] |
Chr11:77158302 [GRCh38] Chr11:76869348 [GRCh37] Chr11:11q13.5 |
likely benign|uncertain significance |
NM_000260.4(MYO7A):c.1221C>T (p.Phe407=) |
single nucleotide variant |
not provided [RCV000976228] |
Chr11:77160993 [GRCh38] Chr11:76872039 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.4539C>T (p.Phe1513=) |
single nucleotide variant |
not provided [RCV000915404] |
Chr11:77198592 [GRCh38] Chr11:76909637 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.2868G>A (p.Leu956=) |
single nucleotide variant |
not provided [RCV000943785] |
Chr11:77181553 [GRCh38] Chr11:76892599 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.6309C>T (p.Leu2103=) |
single nucleotide variant |
Usher syndrome type 1B [RCV001830967]|not provided [RCV000901809] |
Chr11:77211892 [GRCh38] Chr11:76922937 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.5244G>A (p.Thr1748=) |
single nucleotide variant |
not provided [RCV000976480] |
Chr11:77203135 [GRCh38] Chr11:76914180 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.5196T>A (p.Arg1732=) |
single nucleotide variant |
not provided [RCV000976487] |
Chr11:77203087 [GRCh38] Chr11:76914132 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.75G>C (p.Gly25=) |
single nucleotide variant |
not provided [RCV000944402] |
Chr11:77142765 [GRCh38] Chr11:76853811 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.286-4G>A |
single nucleotide variant |
not provided [RCV000920147] |
Chr11:77155903 [GRCh38] Chr11:76866949 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.4938G>A (p.Ser1646=) |
single nucleotide variant |
not provided [RCV000924484] |
Chr11:77201533 [GRCh38] Chr11:76912578 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.1343+7C>T |
single nucleotide variant |
Usher syndrome type 1B [RCV001274699]|not provided [RCV000982245] |
Chr11:77161122 [GRCh38] Chr11:76872168 [GRCh37] Chr11:11q13.5 |
likely benign|uncertain significance |
NM_000260.4(MYO7A):c.4512G>A (p.Gln1504=) |
single nucleotide variant |
Usher syndrome type 1B [RCV001271763]|not provided [RCV000927865] |
Chr11:77198565 [GRCh38] Chr11:76909610 [GRCh37] Chr11:11q13.5 |
likely benign|uncertain significance |
NM_000260.4(MYO7A):c.4751C>G (p.Ser1584Cys) |
single nucleotide variant |
not provided [RCV001071331] |
Chr11:77199717 [GRCh38] Chr11:76910762 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.4853-11C>G |
single nucleotide variant |
Retinal dystrophy [RCV001075331] |
Chr11:77201437 [GRCh38] Chr11:76912482 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.6346G>A (p.Glu2116Lys) |
single nucleotide variant |
Usher syndrome type 1B [RCV001274809]|not provided [RCV001037401] |
Chr11:77211929 [GRCh38] Chr11:76922974 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.2468G>C (p.Arg823Pro) |
single nucleotide variant |
Usher syndrome type 1B [RCV001272504]|not provided [RCV001066792] |
Chr11:77179835 [GRCh38] Chr11:76890881 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.5785C>T (p.Gln1929Ter) |
single nucleotide variant |
not provided [RCV001071812] |
Chr11:77207331 [GRCh38] Chr11:76918376 [GRCh37] Chr11:11q13.5 |
pathogenic |
NM_000260.4(MYO7A):c.850-3C>G |
single nucleotide variant |
Retinal dystrophy [RCV001075732] |
Chr11:77158274 [GRCh38] Chr11:76869320 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.1213C>T (p.Arg405Trp) |
single nucleotide variant |
Usher syndrome type 1B [RCV001827227]|not provided [RCV001037937] |
Chr11:77160985 [GRCh38] Chr11:76872031 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.6426T>A (p.Asp2142Glu) |
single nucleotide variant |
Inborn genetic diseases [RCV003243396]|Usher syndrome type 1B [RCV001274811]|not provided [RCV001034150] |
Chr11:77213023 [GRCh38] Chr11:76924068 [GRCh37] Chr11:11q13.5 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_000260.4(MYO7A):c.2267G>A (p.Arg756Gln) |
single nucleotide variant |
Usher syndrome type 1B [RCV001272502]|not provided [RCV001039469] |
Chr11:77177628 [GRCh38] Chr11:76888674 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.4667_4668delinsTA (p.Pro1556Leu) |
indel |
not provided [RCV001034420] |
Chr11:77199633..77199634 [GRCh38] Chr11:76910678..76910679 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.2707C>T (p.Gln903Ter) |
single nucleotide variant |
not provided [RCV001061558] |
Chr11:77181392 [GRCh38] Chr11:76892438 [GRCh37] Chr11:11q13.5 |
pathogenic |
NM_000260.4(MYO7A):c.2717G>T (p.Arg906Leu) |
single nucleotide variant |
Usher syndrome type 1B [RCV001827391]|not provided [RCV001061751] |
Chr11:77181402 [GRCh38] Chr11:76892448 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.1895T>G (p.Phe632Cys) |
single nucleotide variant |
Usher syndrome type 1B [RCV001828515]|not provided [RCV001069292] |
Chr11:77172845 [GRCh38] Chr11:76883891 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.1201-5T>C |
single nucleotide variant |
Retinal dystrophy [RCV001073321] |
Chr11:77160968 [GRCh38] Chr11:76872014 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.1522T>C (p.Ser508Pro) |
single nucleotide variant |
Retinal dystrophy [RCV001073328] |
Chr11:77162298 [GRCh38] Chr11:76873344 [GRCh37] Chr11:11q13.5 |
likely pathogenic |
NM_000260.4(MYO7A):c.6470T>G (p.Ile2157Ser) |
single nucleotide variant |
not provided [RCV001046895] |
Chr11:77213891 [GRCh38] Chr11:76924936 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.5422_5436del (p.Pro1808_Glu1812del) |
deletion |
Autosomal recessive nonsyndromic hearing loss 2 [RCV001089551] |
Chr11:77204167..77204181 [GRCh38] Chr11:76915212..76915226 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.5102G>A (p.Arg1701Gln) |
single nucleotide variant |
Usher syndrome type 1B [RCV001827399]|not provided [RCV001062461] |
Chr11:77202358 [GRCh38] Chr11:76913403 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.4685G>T (p.Gly1562Val) |
single nucleotide variant |
not provided [RCV001066258] |
Chr11:77199651 [GRCh38] Chr11:76910696 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.4568+1G>A |
single nucleotide variant |
Retinal dystrophy [RCV001074204]|not provided [RCV001379779] |
Chr11:77198622 [GRCh38] Chr11:76909667 [GRCh37] Chr11:11q13.5 |
likely pathogenic |
NM_000260.4(MYO7A):c.61G>A (p.Asp21Asn) |
single nucleotide variant |
Usher syndrome type 1B [RCV001274686]|not provided [RCV001048922] |
Chr11:77142751 [GRCh38] Chr11:76853797 [GRCh37] Chr11:11q13.5 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_000260.4(MYO7A):c.3795G>A (p.Met1265Ile) |
single nucleotide variant |
Retinal dystrophy [RCV001074507]|not provided [RCV002557913] |
Chr11:77190741 [GRCh38] Chr11:76901786 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.5749G>T (p.Glu1917Ter) |
single nucleotide variant |
Retinal dystrophy [RCV001074577]|Usher syndrome type 1B [RCV001828538]|not provided [RCV001248517] |
Chr11:77207295 [GRCh38] Chr11:76918340 [GRCh37] Chr11:11q13.5 |
pathogenic|likely pathogenic |
NM_000260.4(MYO7A):c.5892C>G (p.Asp1964Glu) |
single nucleotide variant |
Retinal dystrophy [RCV001074578] |
Chr11:77208465 [GRCh38] Chr11:76919510 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.5369G>A (p.Arg1790His) |
single nucleotide variant |
Usher syndrome type 1B [RCV001836078]|not provided [RCV001042909] |
Chr11:77204118 [GRCh38] Chr11:76915163 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.6355-2A>G |
single nucleotide variant |
Retinal dystrophy [RCV001075106]|not provided [RCV002554742] |
Chr11:77212950 [GRCh38] Chr11:76923995 [GRCh37] Chr11:11q13.5 |
likely pathogenic |
NM_000260.4(MYO7A):c.5434G>A (p.Glu1812Lys) |
single nucleotide variant |
Hearing loss, autosomal recessive [RCV001291102]|MYO7A-Related Disorders [RCV000779081]|not provided [RCV001383418] |
Chr11:77204183 [GRCh38] Chr11:76915228 [GRCh37] Chr11:11q13.5 |
pathogenic|likely pathogenic |
NM_000260.4(MYO7A):c.1798-1G>T |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 2 [RCV000770847]|not provided [RCV001576851] |
Chr11:77172747 [GRCh38] Chr11:76883793 [GRCh37] Chr11:11q13.5 |
likely pathogenic |
NM_000260.4(MYO7A):c.6237+1G>A |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 2 [RCV000770848]|not provided [RCV001855994] |
Chr11:77211338 [GRCh38] Chr11:76922383 [GRCh37] Chr11:11q13.5 |
likely pathogenic |
NM_000260.4(MYO7A):c.4927G>A (p.Val1643Ile) |
single nucleotide variant |
Usher syndrome type 1 [RCV001329741]|not specified [RCV000825397] |
Chr11:77201522 [GRCh38] Chr11:76912567 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.2316A>G (p.Thr772=) |
single nucleotide variant |
Usher syndrome type 1B [RCV001825689]|not provided [RCV000827225] |
Chr11:77179078 [GRCh38] Chr11:76890124 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.3570G>T (p.Arg1190=) |
single nucleotide variant |
not provided [RCV000827536] |
Chr11:77189410 [GRCh38] Chr11:76900455 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.2282+1G>C |
single nucleotide variant |
MYO7A-Related Disorders [RCV000778341] |
Chr11:77177644 [GRCh38] Chr11:76888690 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.4105C>T (p.Gln1369Ter) |
single nucleotide variant |
MYO7A-Related Disorders [RCV000778343] |
Chr11:77192231 [GRCh38] Chr11:76903276 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.4309G>A (p.Ala1437Thr) |
single nucleotide variant |
not provided [RCV000927807] |
Chr11:77194510 [GRCh38] Chr11:76905555 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.3396C>T (p.Asp1132=) |
single nucleotide variant |
Usher syndrome type 1B [RCV001271744]|not provided [RCV000928072] |
Chr11:77184608 [GRCh38] Chr11:76895653 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.4308C>T (p.Ile1436=) |
single nucleotide variant |
Usher syndrome type 1B [RCV001832099]|not provided [RCV000928073] |
Chr11:77194509 [GRCh38] Chr11:76905554 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.2095-4C>G |
single nucleotide variant |
Usher syndrome type 1B [RCV001276685]|not provided [RCV000917813] |
Chr11:77175368 [GRCh38] Chr11:76886414 [GRCh37] Chr11:11q13.5 |
likely benign|uncertain significance |
NM_000260.4(MYO7A):c.1081-7G>A |
single nucleotide variant |
not provided [RCV000983739] |
Chr11:77160156 [GRCh38] Chr11:76871202 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.3546C>T (p.Asn1182=) |
single nucleotide variant |
not provided [RCV000978283] |
Chr11:77189386 [GRCh38] Chr11:76900431 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.4568+10C>A |
single nucleotide variant |
Usher syndrome type 1B [RCV001832248]|not provided [RCV000977551] |
Chr11:77198631 [GRCh38] Chr11:76909676 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.19-8G>A |
single nucleotide variant |
not provided [RCV000903100] |
Chr11:77142701 [GRCh38] Chr11:76853747 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.2961C>G (p.Pro987=) |
single nucleotide variant |
not provided [RCV000910652] |
Chr11:77182007 [GRCh38] Chr11:76893053 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.5445G>A (p.Val1815=) |
single nucleotide variant |
Usher syndrome type 1B [RCV001277326]|not provided [RCV000977631] |
Chr11:77204194 [GRCh38] Chr11:76915239 [GRCh37] Chr11:11q13.5 |
likely benign|uncertain significance |
NM_000260.4(MYO7A):c.759C>T (p.His253=) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 11 [RCV001111844]|Autosomal recessive nonsyndromic hearing loss 2 [RCV001111843]|Usher syndrome type 1 [RCV001111845]|Usher syndrome type 1B [RCV001832269]|not provided [RCV000979396] |
Chr11:77157302 [GRCh38] Chr11:76868348 [GRCh37] Chr11:11q13.5 |
likely benign|uncertain significance |
NM_000260.4(MYO7A):c.3291G>A (p.Gln1097=) |
single nucleotide variant |
Usher syndrome type 1B [RCV001276700]|not provided [RCV000900250] |
Chr11:77183073 [GRCh38] Chr11:76894118 [GRCh37] Chr11:11q13.5 |
likely benign|uncertain significance |
NM_000260.4(MYO7A):c.2382C>T (p.Phe794=) |
single nucleotide variant |
not provided [RCV000982538]|not specified [RCV001449680] |
Chr11:77179749 [GRCh38] Chr11:76890795 [GRCh37] Chr11:11q13.5 |
likely benign|conflicting interpretations of pathogenicity |
NM_000260.4(MYO7A):c.5778C>T (p.Asp1926=) |
single nucleotide variant |
not provided [RCV000943478] |
Chr11:77207324 [GRCh38] Chr11:76918369 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.5466C>T (p.Thr1822=) |
single nucleotide variant |
Usher syndrome type 1B [RCV001277327]|not provided [RCV000944837] |
Chr11:77204215 [GRCh38] Chr11:76915260 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.4353C>T (p.Ala1451=) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 11 [RCV002503108]|not provided [RCV000975535] |
Chr11:77197510 [GRCh38] Chr11:76908555 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.3783C>T (p.Pro1261=) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 11 [RCV001110352]|Autosomal recessive nonsyndromic hearing loss 2 [RCV001110350]|Usher syndrome type 1 [RCV001110351]|Usher syndrome type 1B [RCV001271751]|not provided [RCV000931572] |
Chr11:77190729 [GRCh38] Chr11:76901774 [GRCh37] Chr11:11q13.5 |
likely benign|uncertain significance |
NM_000260.4(MYO7A):c.6504C>T (p.His2168=) |
single nucleotide variant |
not provided [RCV000941848] |
Chr11:77213925 [GRCh38] Chr11:76924970 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.6520T>C (p.Leu2174=) |
single nucleotide variant |
Usher syndrome type 1B [RCV001275539]|not provided [RCV000931635] |
Chr11:77213941 [GRCh38] Chr11:76924986 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.3507C>T (p.Asp1169=) |
single nucleotide variant |
Usher syndrome type 1B [RCV001279790]|not provided [RCV000918754] |
Chr11:77189347 [GRCh38] Chr11:76900392 [GRCh37] Chr11:11q13.5 |
likely benign|uncertain significance |
NM_000260.4(MYO7A):c.2526C>T (p.Thr842=) |
single nucleotide variant |
Usher syndrome type 1B [RCV001276693]|not provided [RCV000979759] |
Chr11:77179893 [GRCh38] Chr11:76890939 [GRCh37] Chr11:11q13.5 |
likely benign|uncertain significance |
NM_000260.4(MYO7A):c.444C>T (p.Asn148=) |
single nucleotide variant |
Usher syndrome type 1B [RCV001275890]|not provided [RCV000979832] |
Chr11:77156065 [GRCh38] Chr11:76867111 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.525G>A (p.Leu175=) |
single nucleotide variant |
not provided [RCV000979856] |
Chr11:77156714 [GRCh38] Chr11:76867760 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.6090G>A (p.Thr2030=) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 11 [RCV001113656]|Autosomal recessive nonsyndromic hearing loss 2 [RCV001113655]|Usher syndrome type 1 [RCV001113657]|not provided [RCV000979886] |
Chr11:77211190 [GRCh38] Chr11:76922235 [GRCh37] Chr11:11q13.5 |
likely benign|uncertain significance |
NM_000260.4(MYO7A):c.5266C>T (p.Leu1756=) |
single nucleotide variant |
not provided [RCV000982528] |
Chr11:77203157 [GRCh38] Chr11:76914202 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.5739C>T (p.Asp1913=) |
single nucleotide variant |
not provided [RCV000942694] |
Chr11:77206199 [GRCh38] Chr11:76917244 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.4158C>T (p.Asp1386=) |
single nucleotide variant |
not provided [RCV000915235] |
Chr11:77194359 [GRCh38] Chr11:76905404 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.1059C>T (p.Ala353=) |
single nucleotide variant |
Usher syndrome type 1B [RCV001274697]|not provided [RCV000979795] |
Chr11:77159502 [GRCh38] Chr11:76870548 [GRCh37] Chr11:11q13.5 |
likely benign|uncertain significance |
NM_000260.4(MYO7A):c.2601C>T (p.Leu867=) |
single nucleotide variant |
Usher syndrome type 1B [RCV001279405]|not provided [RCV000896383] |
Chr11:77180388 [GRCh38] Chr11:76891434 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.5796C>T (p.Ala1932=) |
single nucleotide variant |
not provided [RCV000982647] |
Chr11:77207342 [GRCh38] Chr11:76918387 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.4803C>G (p.Leu1601=) |
single nucleotide variant |
not provided [RCV000943595] |
Chr11:77199769 [GRCh38] Chr11:76910814 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.1053G>A (p.Ser351=) |
single nucleotide variant |
Usher syndrome type 1B [RCV001832260]|not provided [RCV000978730] |
Chr11:77159496 [GRCh38] Chr11:76870542 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.3438G>A (p.Arg1146=) |
single nucleotide variant |
not provided [RCV000981116] |
Chr11:77184650 [GRCh38] Chr11:76895695 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.3555G>A (p.Lys1185=) |
single nucleotide variant |
not provided [RCV000982940] |
Chr11:77189395 [GRCh38] Chr11:76900440 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.6238-7C>T |
single nucleotide variant |
not provided [RCV000928566] |
Chr11:77211814 [GRCh38] Chr11:76922859 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.846C>T (p.Ala282=) |
single nucleotide variant |
not provided [RCV000977997] |
Chr11:77157389 [GRCh38] Chr11:76868435 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.513C>A (p.Ile171=) |
single nucleotide variant |
not provided [RCV000941298] |
Chr11:77156702 [GRCh38] Chr11:76867748 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.3651C>T (p.His1217=) |
single nucleotide variant |
Usher syndrome type 1B [RCV001826980]|not provided [RCV000938817] |
Chr11:77190040 [GRCh38] Chr11:76901085 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.6552G>A (p.Thr2184=) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 11 [RCV001113759]|Autosomal recessive nonsyndromic hearing loss 2 [RCV001113757]|Usher syndrome type 1 [RCV001113758]|Usher syndrome type 1B [RCV001274814]|not provided [RCV000939309] |
Chr11:77213973 [GRCh38] Chr11:76925018 [GRCh37] Chr11:11q13.5 |
likely benign|uncertain significance |
NM_000260.4(MYO7A):c.4439C>A (p.Ser1480Ter) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 2 [RCV000770846] |
Chr11:77197596 [GRCh38] Chr11:76908641 [GRCh37] Chr11:11q13.5 |
pathogenic |
NM_000260.4(MYO7A):c.1530C>T (p.Ile510=) |
single nucleotide variant |
Usher syndrome type 1B [RCV001274702]|not provided [RCV000976552] |
Chr11:77162306 [GRCh38] Chr11:76873352 [GRCh37] Chr11:11q13.5 |
likely benign|uncertain significance |
NM_000260.4(MYO7A):c.4248C>A (p.Tyr1416Ter) |
single nucleotide variant |
not provided [RCV000797609] |
Chr11:77194449 [GRCh38] Chr11:76905494 [GRCh37] Chr11:11q13.5 |
pathogenic|likely pathogenic |
NM_000260.4(MYO7A):c.5388C>T (p.Thr1796=) |
single nucleotide variant |
Usher syndrome type 1B [RCV001272812]|not provided [RCV000828188] |
Chr11:77204137 [GRCh38] Chr11:76915182 [GRCh37] Chr11:11q13.5 |
likely benign|uncertain significance |
NM_000260.4(MYO7A):c.6272A>G (p.Lys2091Arg) |
single nucleotide variant |
Usher syndrome type 1B [RCV001274808]|not provided [RCV000901466]|not specified [RCV000825202] |
Chr11:77211855 [GRCh38] Chr11:76922900 [GRCh37] Chr11:11q13.5 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_000260.4(MYO7A):c.3384G>C (p.Lys1128Asn) |
single nucleotide variant |
Inborn genetic diseases [RCV002536051]|Usher syndrome type 1B [RCV001272511]|not provided [RCV001858389]|not specified [RCV000825402] |
Chr11:77184596 [GRCh38] Chr11:76895641 [GRCh37] Chr11:11q13.5 |
likely benign|uncertain significance |
NM_000260.4(MYO7A):c.617G>A (p.Arg206His) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 2 [RCV001109567]|Usher syndrome type 1 [RCV001113579]|Usher syndrome type 1B [RCV001275895]|not provided [RCV001245266]|not specified [RCV000825983] |
Chr11:77156886 [GRCh38] Chr11:76867932 [GRCh37] Chr11:11q13.5 |
benign|uncertain significance |
NM_000260.4(MYO7A):c.1554+244T>C |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 11 [RCV001533298]|Autosomal recessive nonsyndromic hearing loss 2 [RCV001533299]|Usher syndrome type 1 [RCV001533300]|not provided [RCV000829503] |
Chr11:77162574 [GRCh38] Chr11:76873620 [GRCh37] Chr11:11q13.5 |
benign |
NC_000011.10:g.77183190G>C |
single nucleotide variant |
not provided [RCV000829508] |
Chr11:76894235 [GRCh37] Chr11:11q13.5 |
benign |
NM_000260.4(MYO7A):c.3750+89C>T |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 11 [RCV001533359]|Autosomal recessive nonsyndromic hearing loss 2 [RCV001533360]|Usher syndrome type 1 [RCV001533361]|not provided [RCV000829509] |
Chr11:77190228 [GRCh38] Chr11:76901273 [GRCh37] Chr11:11q13.5 |
benign |
NM_000260.4(MYO7A):c.133del |
deletion |
Autosomal dominant nonsyndromic hearing loss 11 [RCV000985195] |
Chr11:77147797 [GRCh38] Chr11:76858843 [GRCh37] Chr11:11q13.5 |
likely pathogenic |
NM_000260.4(MYO7A):c.2636A>C (p.Lys879Thr) |
single nucleotide variant |
Usher syndrome type 1B [RCV001825686]|not specified [RCV000825984] |
Chr11:77180423 [GRCh38] Chr11:76891469 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.5752G>A (p.Val1918Met) |
single nucleotide variant |
Usher syndrome type 1B [RCV001830844]|not specified [RCV000825985] |
Chr11:77207298 [GRCh38] Chr11:76918343 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.1080+65T>C |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 11 [RCV001533295]|Autosomal recessive nonsyndromic hearing loss 2 [RCV001533296]|Usher syndrome type 1 [RCV001533297]|not provided [RCV000838431] |
Chr11:77159588 [GRCh38] Chr11:76870634 [GRCh37] Chr11:11q13.5 |
benign |
NM_000260.4(MYO7A):c.1691-126_1691-125insT |
insertion |
not provided [RCV000838432] |
Chr11:77165930..77165931 [GRCh38] Chr11:76876976..76876977 [GRCh37] Chr11:11q13.5 |
benign |
NM_000260.4(MYO7A):c.1935+191A>T |
single nucleotide variant |
not provided [RCV000838433] |
Chr11:77173076 [GRCh38] Chr11:76884122 [GRCh37] Chr11:11q13.5 |
benign |
NM_000260.4(MYO7A):c.2187+208G>A |
single nucleotide variant |
not provided [RCV000838434] |
Chr11:77175672 [GRCh38] Chr11:76886718 [GRCh37] Chr11:11q13.5 |
benign |
NM_000260.4(MYO7A):c.2367+225T>C |
single nucleotide variant |
not provided [RCV000838435] |
Chr11:77179354 [GRCh38] Chr11:76890400 [GRCh37] Chr11:11q13.5 |
benign |
NM_000260.4(MYO7A):c.2694+58G>A |
single nucleotide variant |
not provided [RCV000838436] |
Chr11:77180539 [GRCh38] Chr11:76891585 [GRCh37] Chr11:11q13.5 |
benign |
NM_000260.4(MYO7A):c.3925-243A>G |
single nucleotide variant |
not provided [RCV000838442] |
Chr11:77191808 [GRCh38] Chr11:76902853 [GRCh37] Chr11:11q13.5 |
benign |
NM_000260.4(MYO7A):c.6051+190T>G |
single nucleotide variant |
not provided [RCV000838450] |
Chr11:77208993 [GRCh38] Chr11:76920038 [GRCh37] Chr11:11q13.5 |
benign |
NM_000260.4(MYO7A):c.6051+234C>G |
single nucleotide variant |
not provided [RCV000838451] |
Chr11:77209037 [GRCh38] Chr11:76920082 [GRCh37] Chr11:11q13.5 |
benign |
NC_000011.10:g.(?_77166046)_(77177653_?)del |
deletion |
not provided [RCV000809304] |
Chr11:77166046..77177653 [GRCh38] Chr11:76877092..76888699 [GRCh37] Chr11:11q13.5 |
pathogenic |
NM_000260.4(MYO7A):c.6356A>C (p.Gln2119Pro) |
single nucleotide variant |
not specified [RCV000825405] |
Chr11:77212953 [GRCh38] Chr11:76923998 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.2367+67T>C |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 11 [RCV001533329]|Autosomal recessive nonsyndromic hearing loss 2 [RCV001533330]|Usher syndrome type 1 [RCV001533331]|not provided [RCV000829505] |
Chr11:77179196 [GRCh38] Chr11:76890242 [GRCh37] Chr11:11q13.5 |
benign |
NM_000260.4(MYO7A):c.2695-58C>G |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 11 [RCV001533332]|Autosomal recessive nonsyndromic hearing loss 2 [RCV001533333]|Usher syndrome type 1 [RCV001533334]|not provided [RCV000829506] |
Chr11:77181322 [GRCh38] Chr11:76892368 [GRCh37] Chr11:11q13.5 |
benign |
NM_000260.4(MYO7A):c.3925-93C>G |
single nucleotide variant |
not provided [RCV000829527] |
Chr11:77191958 [GRCh38] Chr11:76903003 [GRCh37] Chr11:11q13.5 |
benign |
NM_000260.4(MYO7A):c.4323+156C>T |
single nucleotide variant |
not provided [RCV000829529] |
Chr11:77194680 [GRCh38] Chr11:76905725 [GRCh37] Chr11:11q13.5 |
benign |
NC_000011.10:g.77213085A>T |
single nucleotide variant |
not provided [RCV000829534] |
Chr11:76924130 [GRCh37] Chr11:11q13.5 |
benign |
NM_000260.4(MYO7A):c.1003+298C>G |
single nucleotide variant |
not provided [RCV000840461] |
Chr11:77158728 [GRCh38] Chr11:76869774 [GRCh37] Chr11:11q13.5 |
benign |
NM_000260.4(MYO7A):c.1343+253C>G |
single nucleotide variant |
not provided [RCV000840462] |
Chr11:77161368 [GRCh38] Chr11:76872414 [GRCh37] Chr11:11q13.5 |
benign |
NM_000260.4(MYO7A):c.1797+283T>C |
single nucleotide variant |
not provided [RCV000840463] |
Chr11:77166445 [GRCh38] Chr11:76877491 [GRCh37] Chr11:11q13.5 |
benign |
NM_000260.4(MYO7A):c.3504-311G>A |
single nucleotide variant |
not provided [RCV000840469] |
Chr11:77189033 [GRCh38] Chr11:76900078 [GRCh37] Chr11:11q13.5 |
benign |
NM_000260.4(MYO7A):c.4569-261C>T |
single nucleotide variant |
not provided [RCV000840470] |
Chr11:77199274 [GRCh38] Chr11:76910319 [GRCh37] Chr11:11q13.5 |
benign |
NM_000260.4(MYO7A):c.6051+263G>A |
single nucleotide variant |
not provided [RCV000840472] |
Chr11:77209066 [GRCh38] Chr11:76920111 [GRCh37] Chr11:11q13.5 |
benign |
NM_000260.4(MYO7A):c.6559-257T>C |
single nucleotide variant |
not provided [RCV000840476] |
Chr11:77214350 [GRCh38] Chr11:76925395 [GRCh37] Chr11:11q13.5 |
benign |
NM_000260.4(MYO7A):c.268C>T (p.Arg90Trp) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 2 [RCV000988599]|Usher syndrome type 1B [RCV001827129]|not provided [RCV001243585] |
Chr11:77147933 [GRCh38] Chr11:76858979 [GRCh37] Chr11:11q13.5 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_000260.4(MYO7A):c.4489G>C (p.Gly1497Arg) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 2 [RCV000988613]|Usher syndrome [RCV003324544]|not provided [RCV001858695] |
Chr11:77198542 [GRCh38] Chr11:76909587 [GRCh37] Chr11:11q13.5 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
NM_000260.4(MYO7A):c.6044_6047dup (p.Tyr2016Ter) |
duplication |
not provided [RCV000792088] |
Chr11:77208795..77208796 [GRCh38] Chr11:76919840..76919841 [GRCh37] Chr11:11q13.5 |
pathogenic |
NC_000011.10:g.77157232C>A |
single nucleotide variant |
not provided [RCV000835222] |
Chr11:76868278 [GRCh37] Chr11:11q13.5 |
benign |
NC_000011.10:g.77159412C>G |
single nucleotide variant |
not provided [RCV000835223] |
Chr11:76870458 [GRCh37] Chr11:11q13.5 |
benign |
NM_000260.4(MYO7A):c.6196del (p.Gln2066fs) |
deletion |
not provided [RCV000804432] |
Chr11:77211293 [GRCh38] Chr11:76922338 [GRCh37] Chr11:11q13.5 |
pathogenic |
NM_000260.4(MYO7A):c.5944+57G>A |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 11 [RCV001533347]|Autosomal recessive nonsyndromic hearing loss 2 [RCV001533348]|Usher syndrome type 1 [RCV001533349]|not provided [RCV000833703] |
Chr11:77208574 [GRCh38] Chr11:76919619 [GRCh37] Chr11:11q13.5 |
benign |
NM_000260.4(MYO7A):c.5944+67C>T |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 11 [RCV001533350]|Autosomal recessive nonsyndromic hearing loss 2 [RCV001533372]|Usher syndrome type 1 [RCV001533373]|not provided [RCV000833704] |
Chr11:77208584 [GRCh38] Chr11:76919629 [GRCh37] Chr11:11q13.5 |
benign |
NM_000260.4(MYO7A):c.1004-32T>C |
single nucleotide variant |
not provided [RCV000839018] |
Chr11:77159415 [GRCh38] Chr11:76870461 [GRCh37] Chr11:11q13.5 |
benign |
NM_000260.4(MYO7A):c.1935+302C>T |
single nucleotide variant |
not provided [RCV000831689] |
Chr11:77173187 [GRCh38] Chr11:76884233 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.3925-169C>T |
single nucleotide variant |
not provided [RCV000838443] |
Chr11:77191882 [GRCh38] Chr11:76902927 [GRCh37] Chr11:11q13.5 |
benign |
NM_000260.4(MYO7A):c.5044-247T>C |
single nucleotide variant |
not provided [RCV000838445] |
Chr11:77202053 [GRCh38] Chr11:76913098 [GRCh37] Chr11:11q13.5 |
benign |
NM_000260.4(MYO7A):c.5929C>T (p.Arg1977Trp) |
single nucleotide variant |
Retinitis pigmentosa [RCV000787916] |
Chr11:77208502 [GRCh38] Chr11:76919547 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.1690+80C>T |
single nucleotide variant |
not provided [RCV000839256] |
Chr11:77163068 [GRCh38] Chr11:76874114 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.4442-7G>A |
single nucleotide variant |
Usher syndrome type 1B [RCV001830858]|not provided [RCV000841872] |
Chr11:77198488 [GRCh38] Chr11:76909533 [GRCh37] Chr11:11q13.5 |
benign|likely benign |
NM_000260.4(MYO7A):c.5497G>C (p.Gly1833Arg) |
single nucleotide variant |
not specified [RCV000825398] |
Chr11:77205478 [GRCh38] Chr11:76916523 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.5263G>A (p.Ala1755Thr) |
single nucleotide variant |
Usher syndrome type 1B [RCV001273510]|not provided [RCV002067412]|not specified [RCV000825404] |
Chr11:77203154 [GRCh38] Chr11:76914199 [GRCh37] Chr11:11q13.5 |
likely benign|uncertain significance |
NM_000260.4(MYO7A):c.5743-262G>C |
single nucleotide variant |
not provided [RCV000840471] |
Chr11:77207027 [GRCh38] Chr11:76918072 [GRCh37] Chr11:11q13.5 |
benign |
NC_000011.10:g.77194559G>T |
single nucleotide variant |
not provided [RCV000829528] |
Chr11:76905604 [GRCh37] Chr11:11q13.5 |
benign |
NM_000260.4(MYO7A):c.6558+51G>T |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 11 [RCV001533411]|Autosomal recessive nonsyndromic hearing loss 2 [RCV001533412]|Usher syndrome type 1 [RCV001533413]|not provided [RCV000829535] |
Chr11:77214030 [GRCh38] Chr11:76925075 [GRCh37] Chr11:11q13.5 |
benign |
NM_000260.4(MYO7A):c.5822_5823del (p.Glu1941fs) |
microsatellite |
not provided [RCV001059703] |
Chr11:77207366..77207367 [GRCh38] Chr11:76918411..76918412 [GRCh37] Chr11:11q13.5 |
pathogenic |
NM_000260.4(MYO7A):c.-52C>G |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 11 [RCV001114886]|Autosomal recessive nonsyndromic hearing loss 2 [RCV001114888]|Usher syndrome type 1 [RCV001114887] |
Chr11:77128484 [GRCh38] Chr11:76839530 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.2762G>A (p.Arg921Gln) |
single nucleotide variant |
Usher syndrome type 1B [RCV001276695]|not provided [RCV001056595] |
Chr11:77181447 [GRCh38] Chr11:76892493 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.394C>T (p.Pro132Ser) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 11 [RCV001115093]|Autosomal recessive nonsyndromic hearing loss 2 [RCV001115091]|Usher syndrome type 1 [RCV001115092] |
Chr11:77156015 [GRCh38] Chr11:76867061 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.1094A>C (p.Asp365Ala) |
single nucleotide variant |
not provided [RCV001090422] |
Chr11:77160176 [GRCh38] Chr11:76871222 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.1970G>A (p.Arg657Gln) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 11 [RCV001113935]|Autosomal recessive nonsyndromic hearing loss 2 [RCV001113934]|Usher syndrome type 1 [RCV001113933]|not provided [RCV001856501] |
Chr11:77174790 [GRCh38] Chr11:76885836 [GRCh37] Chr11:11q13.5 |
likely pathogenic|uncertain significance |
NM_000260.4(MYO7A):c.5480+162C>G |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 11 [RCV001533303]|Autosomal recessive nonsyndromic hearing loss 2 [RCV001533304]|Usher syndrome type 1 [RCV001533305]|not provided [RCV000829531] |
Chr11:77204391 [GRCh38] Chr11:76915436 [GRCh37] Chr11:11q13.5 |
benign |
NM_000260.4(MYO7A):c.5637-175A>G |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 11 [RCV001533309]|Autosomal recessive nonsyndromic hearing loss 2 [RCV001533310]|Usher syndrome type 1 [RCV001533311]|not provided [RCV000829532] |
Chr11:77205922 [GRCh38] Chr11:76916967 [GRCh37] Chr11:11q13.5 |
benign |
NM_000260.4(MYO7A):c.2919G>A (p.Gly973=) |
single nucleotide variant |
not provided [RCV000980801] |
Chr11:77181965 [GRCh38] Chr11:76893011 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.4324-207C>G |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 11 [RCV001533368]|Autosomal recessive nonsyndromic hearing loss 2 [RCV001533369]|Usher syndrome type 1 [RCV001533370]|not provided [RCV000833189] |
Chr11:77197274 [GRCh38] Chr11:76908319 [GRCh37] Chr11:11q13.5 |
benign |
NM_000260.4(MYO7A):c.4324-202A>G |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 11 [RCV001533371]|Autosomal recessive nonsyndromic hearing loss 2 [RCV001533393]|Usher syndrome type 1 [RCV001533394]|not provided [RCV000833190] |
Chr11:77197279 [GRCh38] Chr11:76908324 [GRCh37] Chr11:11q13.5 |
benign |
NM_000260.4(MYO7A):c.4441+333C>A |
single nucleotide variant |
not provided [RCV000833191] |
Chr11:77197931 [GRCh38] Chr11:76908976 [GRCh37] Chr11:11q13.5 |
benign |
NM_000260.4(MYO7A):c.5865C>T (p.Ser1955=) |
single nucleotide variant |
not provided [RCV000981943] |
Chr11:77208438 [GRCh38] Chr11:76919483 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.5215C>T (p.Arg1739Ter) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 11 [RCV002501115]|Ear malformation [RCV001814241]|Retinal dystrophy [RCV001075462]|not provided [RCV000815067] |
Chr11:77203106 [GRCh38] Chr11:76914151 [GRCh37] Chr11:11q13.5 |
pathogenic|likely pathogenic |
NM_000260.4(MYO7A):c.19-34G>A |
single nucleotide variant |
not provided [RCV000836894] |
Chr11:77142675 [GRCh38] Chr11:76853721 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.2367+269A>G |
single nucleotide variant |
not provided [RCV000840464] |
Chr11:77179398 [GRCh38] Chr11:76890444 [GRCh37] Chr11:11q13.5 |
benign |
NM_000260.4(MYO7A):c.1690+262A>G |
single nucleotide variant |
not provided [RCV000840465] |
Chr11:77163250 [GRCh38] Chr11:76874296 [GRCh37] Chr11:11q13.5 |
benign |
NM_000260.4(MYO7A):c.1838A>G (p.Gln613Arg) |
single nucleotide variant |
not provided [RCV000787915] |
Chr11:77172788 [GRCh38] Chr11:76883834 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.1195G>A (p.Val399Ile) |
single nucleotide variant |
Usher syndrome type 1B [RCV001835981]|not provided [RCV001811507]|not specified [RCV000825400] |
Chr11:77160277 [GRCh38] Chr11:76871323 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.2597G>A (p.Arg866His) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 11 [RCV002507450]|Usher syndrome type 1B [RCV001830836]|not provided [RCV001858390]|not specified [RCV000825403] |
Chr11:77180384 [GRCh38] Chr11:76891430 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.6474C>T (p.Ser2158=) |
single nucleotide variant |
not provided [RCV000981127] |
Chr11:77213895 [GRCh38] Chr11:76924940 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.4194A>G (p.Val1398=) |
single nucleotide variant |
Usher syndrome type 1B [RCV001271759]|not provided [RCV000841486] |
Chr11:77194395 [GRCh38] Chr11:76905440 [GRCh37] Chr11:11q13.5 |
likely benign|uncertain significance |
NM_000260.4(MYO7A):c.2335C>T (p.Arg779Trp) |
single nucleotide variant |
Usher syndrome type 1B [RCV001832806]|not provided [RCV001581720] |
Chr11:77179097 [GRCh38] Chr11:76890143 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.4441+302A>C |
single nucleotide variant |
not provided [RCV001643404] |
Chr11:77197900 [GRCh38] Chr11:76908945 [GRCh37] Chr11:11q13.5 |
benign |
NM_000260.4(MYO7A):c.6495C>T (p.Thr2165=) |
single nucleotide variant |
not provided [RCV000977175] |
Chr11:77213916 [GRCh38] Chr11:76924961 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.1710A>G (p.Arg570=) |
single nucleotide variant |
Usher syndrome type 1B [RCV001276678]|not provided [RCV000941396] |
Chr11:77166075 [GRCh38] Chr11:76877121 [GRCh37] Chr11:11q13.5 |
likely benign|uncertain significance |
NC_000011.10:g.77174733G>A |
single nucleotide variant |
not provided [RCV000829504] |
Chr11:76885779 [GRCh37] Chr11:11q13.5 |
benign |
NM_000260.4(MYO7A):c.2905-54A>G |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 11 [RCV001533338]|Autosomal recessive nonsyndromic hearing loss 2 [RCV001533339]|Usher syndrome type 1 [RCV001533340]|not provided [RCV000829507] |
Chr11:77181897 [GRCh38] Chr11:76892943 [GRCh37] Chr11:11q13.5 |
benign |
NM_000260.4(MYO7A):c.3751-94C>G |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 11 [RCV001533362]|Autosomal recessive nonsyndromic hearing loss 2 [RCV001533363]|Usher syndrome type 1 [RCV001533364]|not provided [RCV000829510] |
Chr11:77190603 [GRCh38] Chr11:76901648 [GRCh37] Chr11:11q13.5 |
benign |
NM_000260.4(MYO7A):c.3924+109G>A |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 11 [RCV001533365]|Autosomal recessive nonsyndromic hearing loss 2 [RCV001533366]|Usher syndrome type 1 [RCV001533367]|not provided [RCV000829511] |
Chr11:77190979 [GRCh38] Chr11:76902024 [GRCh37] Chr11:11q13.5 |
benign |
NM_000260.4(MYO7A):c.4442-113A>G |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 11 [RCV001533404]|Autosomal recessive nonsyndromic hearing loss 2 [RCV001533405]|Usher syndrome type 1 [RCV001533406]|not provided [RCV000829530] |
Chr11:77198382 [GRCh38] Chr11:76909427 [GRCh37] Chr11:11q13.5 |
benign |
NC_000011.10:g.77207452G>A |
single nucleotide variant |
not provided [RCV000829533] |
Chr11:76918497 [GRCh37] Chr11:11q13.5 |
benign |
NM_000260.4(MYO7A):c.2694+134A>G |
single nucleotide variant |
not provided [RCV000838437] |
Chr11:77180615 [GRCh38] Chr11:76891661 [GRCh37] Chr11:11q13.5 |
benign |
NM_000260.4(MYO7A):c.470+96C>T |
single nucleotide variant |
not provided [RCV000838438] |
Chr11:77156187 [GRCh38] Chr11:76867233 [GRCh37] Chr11:11q13.5 |
benign |
NM_000260.4(MYO7A):c.3109-68G>A |
single nucleotide variant |
Usher syndrome type 1B [RCV001272509]|not provided [RCV000838439] |
Chr11:77182356 [GRCh38] Chr11:76893401 [GRCh37] Chr11:11q13.5 |
benign |
NM_000260.4(MYO7A):c.3504-122G>A |
single nucleotide variant |
not provided [RCV000838440] |
Chr11:77189222 [GRCh38] Chr11:76900267 [GRCh37] Chr11:11q13.5 |
benign |
NM_000260.4(MYO7A):c.3751-119_3751-118insGCTGGGGCCTGGAGC |
insertion |
not provided [RCV000838441] |
Chr11:77190578..77190579 [GRCh38] Chr11:76901623..76901624 [GRCh37] Chr11:11q13.5 |
benign |
NM_000260.4(MYO7A):c.5481-83A>G |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 11 [RCV001533306]|Autosomal recessive nonsyndromic hearing loss 2 [RCV001533307]|Usher syndrome type 1 [RCV001533308]|not provided [RCV000838448] |
Chr11:77205379 [GRCh38] Chr11:76916424 [GRCh37] Chr11:11q13.5 |
benign |
NM_000260.4(MYO7A):c.6051+155T>C |
single nucleotide variant |
not provided [RCV000838449] |
Chr11:77208958 [GRCh38] Chr11:76920003 [GRCh37] Chr11:11q13.5 |
benign |
NM_000260.4(MYO7A):c.940G>A (p.Glu314Lys) |
single nucleotide variant |
MYO7A-related disorder [RCV000844973] |
Chr11:77158367 [GRCh38] Chr11:76869413 [GRCh37] Chr11:11q13.5 |
not provided |
NM_000260.4(MYO7A):c.3503+12G>A |
single nucleotide variant |
Retinitis pigmentosa [RCV000787852] |
Chr11:77184727 [GRCh38] Chr11:76895772 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.724G>T (p.Val242Phe) |
single nucleotide variant |
not provided [RCV000787853] |
Chr11:77156993 [GRCh38] Chr11:76868039 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.4530G>A (p.Glu1510=) |
single nucleotide variant |
not provided [RCV000979760] |
Chr11:77198583 [GRCh38] Chr11:76909628 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.1074del (p.Glu360fs) |
deletion |
not provided [RCV001058101] |
Chr11:77159517 [GRCh38] Chr11:76870563 [GRCh37] Chr11:11q13.5 |
pathogenic |
NM_000260.4(MYO7A):c.5018T>A (p.Val1673Asp) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 11 [RCV001114774]|Autosomal recessive nonsyndromic hearing loss 2 [RCV001114776]|Usher syndrome type 1 [RCV001114775]|Usher syndrome type 1B [RCV001828561]|not provided [RCV001308247] |
Chr11:77201613 [GRCh38] Chr11:76912658 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.1868G>T (p.Arg623Leu) |
single nucleotide variant |
Usher syndrome type 1B [RCV001276682]|not provided [RCV001052061] |
Chr11:77172818 [GRCh38] Chr11:76883864 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.1343+5C>T |
single nucleotide variant |
Usher syndrome type 1B [RCV001832509]|not provided [RCV001056541]|not specified [RCV002249664] |
Chr11:77161120 [GRCh38] Chr11:76872166 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.5900G>A (p.Arg1967Gln) |
single nucleotide variant |
Hearing impairment [RCV001375281]|Inborn genetic diseases [RCV002549879]|not provided [RCV000994691] |
Chr11:77208473 [GRCh38] Chr11:76919518 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.6026C>A (p.Ala2009Asp) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 2 [RCV000988617]|Usher syndrome type 1B [RCV001272820]|not provided [RCV001060649] |
Chr11:77208778 [GRCh38] Chr11:76919823 [GRCh37] Chr11:11q13.5 |
pathogenic|uncertain significance |
NM_000260.4(MYO7A):c.1690+4C>T |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 11 [RCV001113840]|Autosomal recessive nonsyndromic hearing loss 2 [RCV001113838]|Usher syndrome type 1 [RCV001113839] |
Chr11:77162992 [GRCh38] Chr11:76874038 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.6512T>C (p.Ile2171Thr) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 11 [RCV001112408]|Autosomal recessive nonsyndromic hearing loss 2 [RCV001112409]|Usher syndrome type 1 [RCV001112410] |
Chr11:77213933 [GRCh38] Chr11:76924978 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.*100C>T |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 11 [RCV001110532]|Autosomal recessive nonsyndromic hearing loss 2 [RCV001110531]|Usher syndrome type 1 [RCV001112499] |
Chr11:77214796 [GRCh38] Chr11:76925841 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.*201T>C |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 11 [RCV001113842]|Autosomal recessive nonsyndromic hearing loss 2 [RCV001112500]|Usher syndrome type 1 [RCV001113841] |
Chr11:77214897 [GRCh38] Chr11:76925942 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.2764AAG[1] (p.Lys923del) |
microsatellite |
Autosomal dominant nonsyndromic hearing loss 11 [RCV001195690] |
Chr11:77181448..77181450 [GRCh38] Chr11:76892494..76892496 [GRCh37] Chr11:11q13.5 |
likely pathogenic |
NM_000260.4(MYO7A):c.254T>C (p.Leu85Pro) |
single nucleotide variant |
not provided [RCV001203144] |
Chr11:77147919 [GRCh38] Chr11:76858965 [GRCh37] Chr11:11q13.5 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_000260.4(MYO7A):c.5116G>A (p.Glu1706Lys) |
single nucleotide variant |
Usher syndrome type 1B [RCV001833759]|not provided [RCV001664745]|not specified [RCV001195384] |
Chr11:77202372 [GRCh38] Chr11:76913417 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.1049C>T (p.Pro350Leu) |
single nucleotide variant |
Usher syndrome type 1B [RCV001827363]|not provided [RCV001058247] |
Chr11:77159492 [GRCh38] Chr11:76870538 [GRCh37] Chr11:11q13.5 |
likely benign|uncertain significance |
NM_000260.4(MYO7A):c.3750+4C>T |
single nucleotide variant |
Usher syndrome type 1B [RCV001829989]|not provided [RCV001246409]|not specified [RCV003155380] |
Chr11:77190143 [GRCh38] Chr11:76901188 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.6205A>T (p.Ile2069Phe) |
single nucleotide variant |
not provided [RCV002561034]|not specified [RCV001195386] |
Chr11:77211305 [GRCh38] Chr11:76922350 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.4732G>A (p.Asp1578Asn) |
single nucleotide variant |
not specified [RCV001195390] |
Chr11:77199698 [GRCh38] Chr11:76910743 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.5486_5487delinsTT (p.Ser1829Ile) |
indel |
not specified [RCV001195391] |
Chr11:77205467..77205468 [GRCh38] Chr11:76916512..76916513 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.4917G>A (p.Thr1639=) |
single nucleotide variant |
not provided [RCV001248357] |
Chr11:77201512 [GRCh38] Chr11:76912557 [GRCh37] Chr11:11q13.5 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_000260.4(MYO7A):c.6238-2A>G |
single nucleotide variant |
not provided [RCV001230982] |
Chr11:77211819 [GRCh38] Chr11:76922864 [GRCh37] Chr11:11q13.5 |
likely pathogenic |
NM_000260.4(MYO7A):c.4689G>A (p.Ala1563=) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 11 [RCV001113298]|Autosomal recessive nonsyndromic hearing loss 2 [RCV001113297]|Usher syndrome type 1 [RCV001113299]|not provided [RCV002556210] |
Chr11:77199655 [GRCh38] Chr11:76910700 [GRCh37] Chr11:11q13.5 |
likely benign|uncertain significance |
NM_000260.4(MYO7A):c.1201-46C>T |
single nucleotide variant |
not provided [RCV001544662] |
Chr11:77160927 [GRCh38] Chr11:76871973 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.5943C>T (p.Asp1981=) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 11 [RCV001111846]|Autosomal recessive nonsyndromic hearing loss 2 [RCV001109576]|Usher syndrome type 1 [RCV001109575]|not provided [RCV002556143] |
Chr11:77208516 [GRCh38] Chr11:76919561 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.3750+20C>T |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 11 [RCV001197959]|not provided [RCV002069288] |
Chr11:77190159 [GRCh38] Chr11:76901204 [GRCh37] Chr11:11q13.5 |
likely benign|uncertain significance |
NM_000260.4(MYO7A):c.3587C>A (p.Ser1196Tyr) |
single nucleotide variant |
not provided [RCV001212570] |
Chr11:77189427 [GRCh38] Chr11:76900472 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.6626G>A (p.Arg2209Gln) |
single nucleotide variant |
Meniere disease [RCV001526688]|Usher syndrome type 1B [RCV001836184]|not provided [RCV001230499] |
Chr11:77214674 [GRCh38] Chr11:76925719 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.2362G>A (p.Gly788Arg) |
single nucleotide variant |
Usher syndrome type 1B [RCV001828904]|not provided [RCV001238701] |
Chr11:77179124 [GRCh38] Chr11:76890170 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.4768A>G (p.Ile1590Val) |
single nucleotide variant |
Usher syndrome type 1B [RCV001279802]|not provided [RCV001241941] |
Chr11:77199734 [GRCh38] Chr11:76910779 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.5950G>T (p.Val1984Leu) |
single nucleotide variant |
Usher syndrome type 1B [RCV001277333]|not provided [RCV001239193] |
Chr11:77208702 [GRCh38] Chr11:76919747 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.1574T>G (p.Leu525Ter) |
single nucleotide variant |
not provided [RCV001203139] |
Chr11:77162872 [GRCh38] Chr11:76873918 [GRCh37] Chr11:11q13.5 |
pathogenic |
NM_000260.4(MYO7A):c.19-3T>C |
single nucleotide variant |
Usher syndrome type 1B [RCV001834070]|not provided [RCV001238997] |
Chr11:77142706 [GRCh38] Chr11:76853752 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.5300C>T (p.Ser1767Leu) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 11 [RCV002484214]|Inborn genetic diseases [RCV002563051]|Usher syndrome type 1B [RCV001828787]|not provided [RCV001224189] |
Chr11:77203191 [GRCh38] Chr11:76914236 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.5590T>C (p.Cys1864Arg) |
single nucleotide variant |
not provided [RCV001226491] |
Chr11:77205571 [GRCh38] Chr11:76916616 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.6052-3C>T |
single nucleotide variant |
Usher syndrome type 1B [RCV001828810]|not provided [RCV001226492] |
Chr11:77211149 [GRCh38] Chr11:76922194 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.5770G>C (p.Ala1924Pro) |
single nucleotide variant |
not provided [RCV001205228] |
Chr11:77207316 [GRCh38] Chr11:76918361 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.4951G>A (p.Gly1651Ser) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 2 [RCV001542594]|Usher syndrome type 1B [RCV001834092]|not provided [RCV001239504] |
Chr11:77201546 [GRCh38] Chr11:76912591 [GRCh37] Chr11:11q13.5 |
pathogenic|likely pathogenic|uncertain significance |
NM_000260.4(MYO7A):c.3490C>T (p.Arg1164Trp) |
single nucleotide variant |
Usher syndrome type 1B [RCV001828753]|not provided [RCV001220399] |
Chr11:77184702 [GRCh38] Chr11:76895747 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.4465G>A (p.Val1489Ile) |
single nucleotide variant |
Usher syndrome type 1B [RCV001834061]|not provided [RCV001237699] |
Chr11:77198518 [GRCh38] Chr11:76909563 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.4993G>A (p.Asp1665Asn) |
single nucleotide variant |
not provided [RCV001223092] |
Chr11:77201588 [GRCh38] Chr11:76912633 [GRCh37] Chr11:11q13.5 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_000260.4(MYO7A):c.44G>T (p.Arg15Ile) |
single nucleotide variant |
not provided [RCV001240192] |
Chr11:77142734 [GRCh38] Chr11:76853780 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.2717G>A (p.Arg906His) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 11 [RCV002484324]|Usher syndrome type 1B [RCV001835102]|not provided [RCV001241415] |
Chr11:77181402 [GRCh38] Chr11:76892448 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.3784G>A (p.Val1262Met) |
single nucleotide variant |
Usher syndrome type 1B [RCV001828977]|not provided [RCV001241459] |
Chr11:77190730 [GRCh38] Chr11:76901775 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.970G>T (p.Ala324Ser) |
single nucleotide variant |
not provided [RCV001243239] |
Chr11:77158397 [GRCh38] Chr11:76869443 [GRCh37] Chr11:11q13.5 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_000260.4(MYO7A):c.2905-1G>C |
single nucleotide variant |
Usher syndrome type 1 [RCV001839034]|Usher syndrome type 1B [RCV001834062]|not provided [RCV001238259] |
Chr11:77181950 [GRCh38] Chr11:76892996 [GRCh37] Chr11:11q13.5 |
likely pathogenic|uncertain significance |
NM_000260.4(MYO7A):c.1549C>T (p.Pro517Ser) |
single nucleotide variant |
not provided [RCV001243479] |
Chr11:77162325 [GRCh38] Chr11:76873371 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.3215C>T (p.Thr1072Ile) |
single nucleotide variant |
Usher syndrome type 1B [RCV001835174]|not provided [RCV001243521] |
Chr11:77182530 [GRCh38] Chr11:76893575 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.1816C>T (p.Arg606Cys) |
single nucleotide variant |
Usher syndrome type 1B [RCV001829970]|not provided [RCV001245817] |
Chr11:77172766 [GRCh38] Chr11:76883812 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.2225A>T (p.Lys742Ile) |
single nucleotide variant |
Usher syndrome type 1B [RCV001835119]|not provided [RCV001242096] |
Chr11:77177586 [GRCh38] Chr11:76888632 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.462C>A (p.Cys154Ter) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 11 [RCV002480760]|not provided [RCV001232281] |
Chr11:77156083 [GRCh38] Chr11:76867129 [GRCh37] Chr11:11q13.5 |
pathogenic |
NM_000260.4(MYO7A):c.3718C>T (p.Arg1240Trp) |
single nucleotide variant |
Ear malformation [RCV001814288]|not provided [RCV001238581] |
Chr11:77190107 [GRCh38] Chr11:76901152 [GRCh37] Chr11:11q13.5 |
pathogenic|likely pathogenic|uncertain significance |
NM_000260.4(MYO7A):c.1940del (p.Phe647fs) |
deletion |
not provided [RCV001226547] |
Chr11:77174759 [GRCh38] Chr11:76885805 [GRCh37] Chr11:11q13.5 |
pathogenic |
NM_000260.4(MYO7A):c.3944_3945dup (p.Ser1316fs) |
duplication |
not provided [RCV001226078] |
Chr11:77192069..77192070 [GRCh38] Chr11:76903114..76903115 [GRCh37] Chr11:11q13.5 |
pathogenic |
NM_000260.4(MYO7A):c.1003+1_1003+33delinsCAGTGCCTTG |
indel |
not provided [RCV001247709] |
Chr11:77158431..77158463 [GRCh38] Chr11:76869477..76869509 [GRCh37] Chr11:11q13.5 |
likely pathogenic |
NM_000260.4(MYO7A):c.3056G>A (p.Arg1019Gln) |
single nucleotide variant |
Usher syndrome type 1B [RCV001834068]|not provided [RCV001238611] |
Chr11:77182102 [GRCh38] Chr11:76893148 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.6362C>T (p.Thr2121Met) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 11 [RCV001198381]|Inborn genetic diseases [RCV002560191]|Usher syndrome type 1B [RCV001828608]|not provided [RCV002560190]|not specified [RCV001195248] |
Chr11:77212959 [GRCh38] Chr11:76924004 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.1040T>C (p.Leu347Pro) |
single nucleotide variant |
not provided [RCV001207482] |
Chr11:77159483 [GRCh38] Chr11:76870529 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.5315T>C (p.Leu1772Pro) |
single nucleotide variant |
not provided [RCV001211517] |
Chr11:77203206 [GRCh38] Chr11:76914251 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.4259G>A (p.Arg1420His) |
single nucleotide variant |
Usher syndrome type 1B [RCV001833983]|not provided [RCV001229281] |
Chr11:77194460 [GRCh38] Chr11:76905505 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.937A>G (p.Thr313Ala) |
single nucleotide variant |
not provided [RCV001212246] |
Chr11:77158364 [GRCh38] Chr11:76869410 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.4727A>G (p.Lys1576Arg) |
single nucleotide variant |
not provided [RCV001202169] |
Chr11:77199693 [GRCh38] Chr11:76910738 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.6193C>A (p.Pro2065Thr) |
single nucleotide variant |
not provided [RCV001247146] |
Chr11:77211293 [GRCh38] Chr11:76922338 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.2455C>G (p.Gln819Glu) |
single nucleotide variant |
Inborn genetic diseases [RCV003288806] |
Chr11:77179822 [GRCh38] Chr11:76890868 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.1046C>A (p.Ser349Tyr) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 2 [RCV000988601]|not provided [RCV003128732] |
Chr11:77159489 [GRCh38] Chr11:76870535 [GRCh37] Chr11:11q13.5 |
likely pathogenic|uncertain significance |
NM_000260.4(MYO7A):c.6439-1G>A |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 2 [RCV000988618]|not provided [RCV001379549] |
Chr11:77213859 [GRCh38] Chr11:76924904 [GRCh37] Chr11:11q13.5 |
pathogenic|likely pathogenic |
NM_000260.4(MYO7A):c.2056C>T (p.Arg686Cys) |
single nucleotide variant |
Usher syndrome type 1B [RCV001272500]|not provided [RCV000994687] |
Chr11:77174876 [GRCh38] Chr11:76885922 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.4037T>C (p.Phe1346Ser) |
single nucleotide variant |
not provided [RCV000994689] |
Chr11:77192163 [GRCh38] Chr11:76903208 [GRCh37] Chr11:11q13.5 |
likely pathogenic |
NM_000260.4(MYO7A):c.5291A>G (p.Glu1764Gly) |
single nucleotide variant |
Hearing impairment [RCV001375362]|not provided [RCV000994690] |
Chr11:77203182 [GRCh38] Chr11:76914227 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.*38G>A |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 11 [RCV001110525]|Autosomal recessive nonsyndromic hearing loss 2 [RCV001110526]|Usher syndrome type 1 [RCV001110527] |
Chr11:77214734 [GRCh38] Chr11:76925779 [GRCh37] Chr11:11q13.5 |
likely benign|uncertain significance |
NM_000260.4(MYO7A):c.638T>A (p.Phe213Tyr) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 11 [RCV002497721]|not provided [RCV001210857] |
Chr11:77156907 [GRCh38] Chr11:76867953 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.3109-15C>T |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 11 [RCV001110926]|Autosomal recessive nonsyndromic hearing loss 2 [RCV001110924]|Usher syndrome type 1 [RCV001110925] |
Chr11:77182409 [GRCh38] Chr11:76893454 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.3638G>A (p.Arg1213Gln) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 11 [RCV001111012]|Autosomal recessive nonsyndromic hearing loss 2 [RCV001111014]|Usher syndrome type 1 [RCV001111013]|not provided [RCV002464388] |
Chr11:77190027 [GRCh38] Chr11:76901072 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.4128G>C (p.Lys1376Asn) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 11 [RCV001111182]|Autosomal recessive nonsyndromic hearing loss 2 [RCV001111181]|Usher syndrome type 1 [RCV001111180]|Usher syndrome type 1B [RCV001833711]|not provided [RCV001301856] |
Chr11:77192254 [GRCh38] Chr11:76903299 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.4772G>A (p.Arg1591His) |
single nucleotide variant |
Inborn genetic diseases [RCV002568657]|Usher syndrome type 1B [RCV001829993]|not provided [RCV001246491] |
Chr11:77199738 [GRCh38] Chr11:76910783 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.5982G>A (p.Met1994Ile) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 11 [RCV001199231]|not provided [RCV001863138] |
Chr11:77208734 [GRCh38] Chr11:76919779 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.5420_5421dup (p.Pro1808fs) |
duplication |
not provided [RCV001008305] |
Chr11:77204167..77204168 [GRCh38] Chr11:76915212..76915213 [GRCh37] Chr11:11q13.5 |
pathogenic |
NM_000260.4(MYO7A):c.655_660del (p.Ile219_His220del) |
deletion |
not provided [RCV001090421] |
Chr11:77156922..77156927 [GRCh38] Chr11:76867968..76867973 [GRCh37] Chr11:11q13.5 |
pathogenic |
NM_000260.4(MYO7A):c.4152+6dup |
duplication |
not provided [RCV001091733] |
Chr11:77192283..77192284 [GRCh38] Chr11:76903328..76903329 [GRCh37] Chr11:11q13.5 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_000260.4(MYO7A):c.4118G>C (p.Arg1373Pro) |
single nucleotide variant |
not provided [RCV001230333] |
Chr11:77192244 [GRCh38] Chr11:76903289 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.1771C>T (p.Gln591Ter) |
single nucleotide variant |
not provided [RCV001230334] |
Chr11:77166136 [GRCh38] Chr11:76877182 [GRCh37] Chr11:11q13.5 |
pathogenic |
NM_000260.4(MYO7A):c.5378A>G (p.Asn1793Ser) |
single nucleotide variant |
Usher syndrome type 1B [RCV001833859]|not provided [RCV001212085] |
Chr11:77204127 [GRCh38] Chr11:76915172 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.3090C>A (p.Asp1030Glu) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 11 [RCV001110162]|Autosomal recessive nonsyndromic hearing loss 2 [RCV001110161]|Usher syndrome type 1 [RCV001110923] |
Chr11:77182136 [GRCh38] Chr11:76893182 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.3594C>T (p.Cys1198=) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 11 [RCV001111008]|Autosomal recessive nonsyndromic hearing loss 2 [RCV001110265]|Usher syndrome type 1 [RCV001111009]|Usher syndrome type 1B [RCV001279791]|not provided [RCV001476549] |
Chr11:77189434 [GRCh38] Chr11:76900479 [GRCh37] Chr11:11q13.5 |
likely benign|uncertain significance |
NM_000260.4(MYO7A):c.1997G>C (p.Arg666Pro) |
single nucleotide variant |
Usher syndrome type 2 [RCV001199712] |
Chr11:77174817 [GRCh38] Chr11:76885863 [GRCh37] Chr11:11q13.5 |
pathogenic |
NM_000260.4(MYO7A):c.1929G>T (p.Lys643Asn) |
single nucleotide variant |
not provided [RCV001213014] |
Chr11:77172879 [GRCh38] Chr11:76883925 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.3853A>C (p.Asn1285His) |
single nucleotide variant |
not provided [RCV003105235] |
Chr11:77190799 [GRCh38] Chr11:76901844 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.1709G>A (p.Arg570Gln) |
single nucleotide variant |
not provided [RCV003105010]|not specified [RCV003331452] |
Chr11:77166074 [GRCh38] Chr11:76877120 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.5620C>A (p.Leu1874Ile) |
single nucleotide variant |
not provided [RCV003234330] |
Chr11:77205601 [GRCh38] Chr11:76916646 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.1691-128_1691-127insT |
insertion |
not provided [RCV001550112] |
Chr11:77165928..77165929 [GRCh38] Chr11:76876974..76876975 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.470+117C>T |
single nucleotide variant |
not provided [RCV001550220] |
Chr11:77156208 [GRCh38] Chr11:76867254 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.6356A>G (p.Gln2119Arg) |
single nucleotide variant |
not provided [RCV001663770] |
Chr11:77212953 [GRCh38] Chr11:76923998 [GRCh37] Chr11:11q13.5 |
likely pathogenic|conflicting interpretations of pathogenicity |
NM_000260.4(MYO7A):c.1004-215G>A |
single nucleotide variant |
not provided [RCV001546009] |
Chr11:77159232 [GRCh38] Chr11:76870278 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.3504-265C>T |
single nucleotide variant |
not provided [RCV001565574] |
Chr11:77189079 [GRCh38] Chr11:76900124 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.4153-8C>A |
single nucleotide variant |
not provided [RCV001552327] |
Chr11:77194346 [GRCh38] Chr11:76905391 [GRCh37] Chr11:11q13.5 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_000260.4(MYO7A):c.1004-228G>A |
single nucleotide variant |
not provided [RCV001575070] |
Chr11:77159219 [GRCh38] Chr11:76870265 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.6354+324G>A |
single nucleotide variant |
not provided [RCV001559903] |
Chr11:77212261 [GRCh38] Chr11:76923306 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.5481-43C>T |
single nucleotide variant |
not provided [RCV001599150] |
Chr11:77205419 [GRCh38] Chr11:76916464 [GRCh37] Chr11:11q13.5 |
benign |
NM_000260.4(MYO7A):c.6354+35G>A |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 11 [RCV001533377]|Autosomal recessive nonsyndromic hearing loss 2 [RCV001533378]|Usher syndrome type 1 [RCV001533379]|not provided [RCV001619946] |
Chr11:77211972 [GRCh38] Chr11:76923017 [GRCh37] Chr11:11q13.5 |
benign|likely benign |
NM_000260.4(MYO7A):c.4441+148A>G |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 11 [RCV001533398]|Autosomal recessive nonsyndromic hearing loss 2 [RCV001533399]|Usher syndrome type 1 [RCV001533400] |
Chr11:77197746 [GRCh38] Chr11:76908791 [GRCh37] Chr11:11q13.5 |
benign |
NM_000260.4(MYO7A):c.1004-40A>C |
single nucleotide variant |
not provided [RCV001647905] |
Chr11:77159407 [GRCh38] Chr11:76870453 [GRCh37] Chr11:11q13.5 |
benign |
NM_000260.4(MYO7A):c.3925-63G>A |
single nucleotide variant |
not provided [RCV001684529] |
Chr11:77191988 [GRCh38] Chr11:76903033 [GRCh37] Chr11:11q13.5 |
benign |
NM_000260.4(MYO7A):c.1690+286C>T |
single nucleotide variant |
not provided [RCV001684195] |
Chr11:77163274 [GRCh38] Chr11:76874320 [GRCh37] Chr11:11q13.5 |
benign |
NM_000260.4(MYO7A):c.632G>A (p.Ser211Asn) |
single nucleotide variant |
not provided [RCV001549866] |
Chr11:77156901 [GRCh38] Chr11:76867947 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.849+230C>T |
single nucleotide variant |
not provided [RCV001560791] |
Chr11:77157622 [GRCh38] Chr11:76868668 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.133-182T>C |
single nucleotide variant |
not provided [RCV001725273] |
Chr11:77147616 [GRCh38] Chr11:76858662 [GRCh37] Chr11:11q13.5 |
benign |
NM_000260.4(MYO7A):c.3013G>A (p.Ala1005Thr) |
single nucleotide variant |
Usher syndrome type 1B [RCV001832764]|not provided [RCV001561081] |
Chr11:77182059 [GRCh38] Chr11:76893105 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.6559-43T>C |
single nucleotide variant |
not provided [RCV001651710] |
Chr11:77214564 [GRCh38] Chr11:76925609 [GRCh37] Chr11:11q13.5 |
benign |
NM_000260.4(MYO7A):c.4441+159T>C |
single nucleotide variant |
not provided [RCV001596459] |
Chr11:77197757 [GRCh38] Chr11:76908802 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.2095-37G>T |
single nucleotide variant |
not provided [RCV001583783] |
Chr11:77175335 [GRCh38] Chr11:76886381 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.1797+55A>G |
single nucleotide variant |
not provided [RCV001637284] |
Chr11:77166217 [GRCh38] Chr11:76877263 [GRCh37] Chr11:11q13.5 |
benign |
NM_000260.4(MYO7A):c.2905-149dup |
duplication |
not provided [RCV001539631] |
Chr11:77181779..77181780 [GRCh38] Chr11:76892825..76892826 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.1344-28C>A |
single nucleotide variant |
not provided [RCV001636325] |
Chr11:77162092 [GRCh38] Chr11:76873138 [GRCh37] Chr11:11q13.5 |
benign |
NM_000260.4(MYO7A):c.735+64C>A |
single nucleotide variant |
not provided [RCV001576719] |
Chr11:77157068 [GRCh38] Chr11:76868114 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.1935+292T>C |
single nucleotide variant |
not provided [RCV001598902] |
Chr11:77173177 [GRCh38] Chr11:76884223 [GRCh37] Chr11:11q13.5 |
benign |
NM_000260.4(MYO7A):c.3108+38G>A |
single nucleotide variant |
not provided [RCV001556594] |
Chr11:77182192 [GRCh38] Chr11:76893238 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.4442-70G>A |
single nucleotide variant |
not provided [RCV001716131] |
Chr11:77198425 [GRCh38] Chr11:76909470 [GRCh37] Chr11:11q13.5 |
benign |
NM_000260.4(MYO7A):c.2487G>A (p.Val829=) |
single nucleotide variant |
Usher syndrome type 1B [RCV001827526]|not provided [RCV001586816] |
Chr11:77179854 [GRCh38] Chr11:76890900 [GRCh37] Chr11:11q13.5 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_000260.4(MYO7A):c.5647C>T (p.Arg1883Trp) |
single nucleotide variant |
Usher syndrome type 1B [RCV001827468]|not provided [RCV001557052] |
Chr11:77206107 [GRCh38] Chr11:76917152 [GRCh37] Chr11:11q13.5 |
pathogenic|likely pathogenic |
NM_000260.4(MYO7A):c.6559-26G>A |
single nucleotide variant |
not provided [RCV001669558] |
Chr11:77214581 [GRCh38] Chr11:76925626 [GRCh37] Chr11:11q13.5 |
benign |
NM_000260.4(MYO7A):c.3504-52G>A |
single nucleotide variant |
not provided [RCV001562772] |
Chr11:77189292 [GRCh38] Chr11:76900337 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.6295G>C (p.Ala2099Pro) |
single nucleotide variant |
not provided [RCV001963959] |
Chr11:77211878 [GRCh38] Chr11:76922923 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.2587-121C>A |
single nucleotide variant |
not provided [RCV001584920] |
Chr11:77180253 [GRCh38] Chr11:76891299 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.5636+42C>T |
single nucleotide variant |
not provided [RCV001592345] |
Chr11:77205659 [GRCh38] Chr11:76916704 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.1555-129C>T |
single nucleotide variant |
not provided [RCV001551843] |
Chr11:77162724 [GRCh38] Chr11:76873770 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.4153-88A>C |
single nucleotide variant |
not provided [RCV001563226] |
Chr11:77194266 [GRCh38] Chr11:76905311 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.1344-242_1344-241insT |
insertion |
not provided [RCV001587723] |
Chr11:77161878..77161879 [GRCh38] Chr11:76872924..76872925 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.3924+39C>A |
single nucleotide variant |
not provided [RCV001614000] |
Chr11:77190909 [GRCh38] Chr11:76901954 [GRCh37] Chr11:11q13.5 |
benign |
NM_000260.4(MYO7A):c.6558+279G>A |
single nucleotide variant |
not provided [RCV001551929] |
Chr11:77214258 [GRCh38] Chr11:76925303 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.3285+67A>G |
single nucleotide variant |
not provided [RCV001558328] |
Chr11:77182667 [GRCh38] Chr11:76893712 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.4568+172G>C |
single nucleotide variant |
not provided [RCV001643843] |
Chr11:77198793 [GRCh38] Chr11:76909838 [GRCh37] Chr11:11q13.5 |
benign |
NM_000260.4(MYO7A):c.4153-276A>G |
single nucleotide variant |
not provided [RCV001620616] |
Chr11:77194078 [GRCh38] Chr11:76905123 [GRCh37] Chr11:11q13.5 |
benign |
NM_000260.4(MYO7A):c.1555-42T>C |
single nucleotide variant |
not provided [RCV001587943] |
Chr11:77162811 [GRCh38] Chr11:76873857 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.6558+248C>T |
single nucleotide variant |
not provided [RCV001540988] |
Chr11:77214227 [GRCh38] Chr11:76925272 [GRCh37] Chr11:11q13.5 |
benign |
NM_000260.4(MYO7A):c.286-246T>C |
single nucleotide variant |
not provided [RCV001689568] |
Chr11:77155661 [GRCh38] Chr11:76866707 [GRCh37] Chr11:11q13.5 |
benign |
NM_000260.4(MYO7A):c.2905-151_2905-149del |
deletion |
not provided [RCV001558687] |
Chr11:77181780..77181782 [GRCh38] Chr11:76892826..76892828 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.5326+51C>T |
single nucleotide variant |
not provided [RCV001566465] |
Chr11:77203268 [GRCh38] Chr11:76914313 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.6439-107G>A |
single nucleotide variant |
not provided [RCV001616587] |
Chr11:77213753 [GRCh38] Chr11:76924798 [GRCh37] Chr11:11q13.5 |
benign |
NM_000260.4(MYO7A):c.3925-141T>A |
single nucleotide variant |
not provided [RCV001583247] |
Chr11:77191910 [GRCh38] Chr11:76902955 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.2905-174_2905-173del |
deletion |
not provided [RCV001574185] |
Chr11:77181768..77181769 [GRCh38] Chr11:76892814..76892815 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.2905-157T>G |
single nucleotide variant |
not provided [RCV001716790] |
Chr11:77181794 [GRCh38] Chr11:76892840 [GRCh37] Chr11:11q13.5 |
benign |
NM_000260.4(MYO7A):c.2095-112G>C |
single nucleotide variant |
not provided [RCV001716791] |
Chr11:77175260 [GRCh38] Chr11:76886306 [GRCh37] Chr11:11q13.5 |
benign |
NM_000260.4(MYO7A):c.3270G>A (p.Leu1090=) |
single nucleotide variant |
Usher syndrome type 1B [RCV001276698]|not provided [RCV000930860]|not specified [RCV001195463] |
Chr11:77182585 [GRCh38] Chr11:76893630 [GRCh37] Chr11:11q13.5 |
likely benign|uncertain significance |
NM_000260.4(MYO7A):c.1003+10C>T |
single nucleotide variant |
Usher syndrome type 1B [RCV001274695]|not provided [RCV000933519] |
Chr11:77158440 [GRCh38] Chr11:76869486 [GRCh37] Chr11:11q13.5 |
likely benign|uncertain significance |
NM_000260.4(MYO7A):c.5781C>T (p.Phe1927=) |
single nucleotide variant |
not provided [RCV000979152] |
Chr11:77207327 [GRCh38] Chr11:76918372 [GRCh37] Chr11:11q13.5 |
likely benign|conflicting interpretations of pathogenicity |
NM_000260.4(MYO7A):c.5374G>A (p.Val1792Ile) |
single nucleotide variant |
not provided [RCV000910594] |
Chr11:77204123 [GRCh38] Chr11:76915168 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.5005G>A (p.Val1669Ile) |
single nucleotide variant |
Usher syndrome type 1B [RCV001272801]|not provided [RCV000941085] |
Chr11:77201600 [GRCh38] Chr11:76912645 [GRCh37] Chr11:11q13.5 |
benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_000260.4(MYO7A):c.1461C>T (p.Ile487=) |
single nucleotide variant |
Usher syndrome type 1B [RCV001274701]|not provided [RCV000907991] |
Chr11:77162237 [GRCh38] Chr11:76873283 [GRCh37] Chr11:11q13.5 |
likely benign|uncertain significance |
NM_000260.4(MYO7A):c.801G>A (p.Lys267=) |
single nucleotide variant |
not provided [RCV000931731] |
Chr11:77157344 [GRCh38] Chr11:76868390 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.5743-10C>G |
single nucleotide variant |
not provided [RCV000888001] |
Chr11:77207279 [GRCh38] Chr11:76918324 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.3093C>T (p.Asp1031=) |
single nucleotide variant |
not provided [RCV000927814] |
Chr11:77182139 [GRCh38] Chr11:76893185 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.1188C>T (p.Asp396=) |
single nucleotide variant |
not provided [RCV000980340] |
Chr11:77160270 [GRCh38] Chr11:76871316 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.2553C>T (p.Ile851=) |
single nucleotide variant |
not provided [RCV000977362] |
Chr11:77179920 [GRCh38] Chr11:76890966 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.6355-8T>C |
single nucleotide variant |
not provided [RCV000909207] |
Chr11:77212944 [GRCh38] Chr11:76923989 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.4441+78_4441+147del |
microsatellite |
not provided [RCV000910067] |
Chr11:77197582..77197651 [GRCh38] Chr11:76908627..76908696 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.4362C>A (p.Val1454=) |
single nucleotide variant |
Usher syndrome type 1B [RCV001271760]|not provided [RCV000980121]|not specified [RCV001195465] |
Chr11:77197519 [GRCh38] Chr11:76908564 [GRCh37] Chr11:11q13.5 |
likely benign|uncertain significance |
NM_000260.4(MYO7A):c.6546C>T (p.Cys2182=) |
single nucleotide variant |
Usher syndrome type 1B [RCV001274813]|not provided [RCV000879306] |
Chr11:77213967 [GRCh38] Chr11:76925012 [GRCh37] Chr11:11q13.5 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_000260.4(MYO7A):c.5969A>G (p.Gln1990Arg) |
single nucleotide variant |
Usher syndrome type 1B [RCV001272818]|not provided [RCV000928316] |
Chr11:77208721 [GRCh38] Chr11:76919766 [GRCh37] Chr11:11q13.5 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_000260.4(MYO7A):c.5151T>C (p.Phe1717=) |
single nucleotide variant |
not provided [RCV000930122] |
Chr11:77202407 [GRCh38] Chr11:76913452 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.5109G>A (p.Ala1703=) |
single nucleotide variant |
Usher syndrome type 1B [RCV001272804]|not provided [RCV000925970]|not specified [RCV001701363] |
Chr11:77202365 [GRCh38] Chr11:76913410 [GRCh37] Chr11:11q13.5 |
benign|likely benign|uncertain significance |
NM_000260.4(MYO7A):c.78G>A (p.Ala26=) |
single nucleotide variant |
Usher syndrome type 1B [RCV001274687]|not provided [RCV000928612] |
Chr11:77142768 [GRCh38] Chr11:76853814 [GRCh37] Chr11:11q13.5 |
likely benign|uncertain significance |
NM_000260.4(MYO7A):c.3012C>T (p.Phe1004=) |
single nucleotide variant |
not provided [RCV000929884] |
Chr11:77182058 [GRCh38] Chr11:76893104 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.102G>A (p.Gly34=) |
single nucleotide variant |
not provided [RCV000975869] |
Chr11:77142792 [GRCh38] Chr11:76853838 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.1890C>G (p.Pro630=) |
single nucleotide variant |
not provided [RCV000978170] |
Chr11:77172840 [GRCh38] Chr11:76883886 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.4647C>A (p.Thr1549=) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 11 [RCV001113295]|Autosomal recessive nonsyndromic hearing loss 2 [RCV001111286]|Usher syndrome type 1 [RCV001113296]|Usher syndrome type 1B [RCV001271764]|not provided [RCV000897829] |
Chr11:77199613 [GRCh38] Chr11:76910658 [GRCh37] Chr11:11q13.5 |
likely benign|uncertain significance |
NM_000260.4(MYO7A):c.470+7G>A |
single nucleotide variant |
not provided [RCV000932814] |
Chr11:77156098 [GRCh38] Chr11:76867144 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.5604C>T (p.Ile1868=) |
single nucleotide variant |
not provided [RCV000932816] |
Chr11:77205585 [GRCh38] Chr11:76916630 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.5472C>T (p.Asn1824=) |
single nucleotide variant |
not provided [RCV000932822] |
Chr11:77204221 [GRCh38] Chr11:76915266 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.519G>A (p.Gln173=) |
single nucleotide variant |
Usher syndrome type 1B [RCV001274689]|not provided [RCV000938258] |
Chr11:77156708 [GRCh38] Chr11:76867754 [GRCh37] Chr11:11q13.5 |
likely benign|uncertain significance |
NM_000260.4(MYO7A):c.3750+15_3750+38del |
deletion |
not provided [RCV000886349] |
Chr11:77190149..77190172 [GRCh38] Chr11:76901194..76901217 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.6486C>T (p.Ser2162=) |
single nucleotide variant |
Usher syndrome type 1B [RCV001274812]|not provided [RCV000978632] |
Chr11:77213907 [GRCh38] Chr11:76924952 [GRCh37] Chr11:11q13.5 |
likely benign|uncertain significance |
NM_000260.4(MYO7A):c.133_153dup |
duplication |
not provided [RCV000930078] |
Chr11:77147791..77147792 [GRCh38] Chr11:76858837..76858838 [GRCh37] Chr11:11q13.5 |
likely benign|conflicting interpretations of pathogenicity |
NM_000260.4(MYO7A):c.5418C>A (p.Ala1806=) |
single nucleotide variant |
not provided [RCV000932986] |
Chr11:77204167 [GRCh38] Chr11:76915212 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.3489G>A (p.Leu1163=) |
single nucleotide variant |
Usher syndrome type 1B [RCV001271746]|not provided [RCV000982634] |
Chr11:77184701 [GRCh38] Chr11:76895746 [GRCh37] Chr11:11q13.5 |
likely benign|uncertain significance |
NM_000260.4(MYO7A):c.1581G>A (p.Lys527=) |
single nucleotide variant |
not provided [RCV000977799] |
Chr11:77162879 [GRCh38] Chr11:76873925 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.2172C>T (p.Thr724=) |
single nucleotide variant |
not provided [RCV000982063] |
Chr11:77175449 [GRCh38] Chr11:76886495 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.1611C>T (p.Asn537=) |
single nucleotide variant |
not provided [RCV000933497] |
Chr11:77162909 [GRCh38] Chr11:76873955 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.6409G>A (p.Gly2137Arg) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 11 [RCV001198584]|not provided [RCV001859204] |
Chr11:77213006 [GRCh38] Chr11:76924051 [GRCh37] Chr11:11q13.5 |
likely pathogenic |
NM_000260.4(MYO7A):c.1916A>G (p.Asn639Ser) |
single nucleotide variant |
Usher syndrome type 1B [RCV001827431]|not provided [RCV001066758] |
Chr11:77172866 [GRCh38] Chr11:76883912 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.3729dup (p.Pro1244fs) |
duplication |
not provided [RCV001207150] |
Chr11:77190117..77190118 [GRCh38] Chr11:76901162..76901163 [GRCh37] Chr11:11q13.5 |
pathogenic |
NM_000260.4(MYO7A):c.5887_5889del (p.Phe1963del) |
deletion |
not provided [RCV001210444] |
Chr11:77208460..77208462 [GRCh38] Chr11:76919505..76919507 [GRCh37] Chr11:11q13.5 |
pathogenic |
NM_000260.4(MYO7A):c.5080G>A (p.Val1694Ile) |
single nucleotide variant |
Usher syndrome type 1B [RCV001834073]|not provided [RCV001239048] |
Chr11:77202336 [GRCh38] Chr11:76913381 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.3330G>C (p.Lys1110Asn) |
single nucleotide variant |
not provided [RCV001247609] |
Chr11:77183112 [GRCh38] Chr11:76894157 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.5566C>T (p.Arg1856Cys) |
single nucleotide variant |
Usher syndrome type 1B [RCV001829935]|not provided [RCV001244691] |
Chr11:77205547 [GRCh38] Chr11:76916592 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.813C>T (p.Gly271=) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 11 [RCV001113654]|Autosomal recessive nonsyndromic hearing loss 2 [RCV001112310]|Usher syndrome type 1 [RCV001112311]|not provided [RCV001478941] |
Chr11:77157356 [GRCh38] Chr11:76868402 [GRCh37] Chr11:11q13.5 |
likely benign|uncertain significance |
NM_000260.4(MYO7A):c.2598C>T (p.Arg866=) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 11 [RCV001114119]|Autosomal recessive nonsyndromic hearing loss 2 [RCV001114118]|Usher syndrome type 1 [RCV001114120]|not provided [RCV001288312]|not specified [RCV001195464] |
Chr11:77180385 [GRCh38] Chr11:76891431 [GRCh37] Chr11:11q13.5 |
likely benign|uncertain significance |
NM_000260.4(MYO7A):c.2120G>C (p.Arg707Pro) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 2 [RCV001089550] |
Chr11:77175397 [GRCh38] Chr11:76886443 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.1201-12A>G |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 11 [RCV001112403]|Autosomal recessive nonsyndromic hearing loss 2 [RCV001112402]|Usher syndrome type 1 [RCV001112404]|not provided [RCV002069813] |
Chr11:77160961 [GRCh38] Chr11:76872007 [GRCh37] Chr11:11q13.5 |
likely benign|uncertain significance |
NM_000260.4(MYO7A):c.3751-14T>C |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 11 [RCV001110348]|Autosomal recessive nonsyndromic hearing loss 2 [RCV001110349]|Usher syndrome type 1 [RCV001114383] |
Chr11:77190683 [GRCh38] Chr11:76901728 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.6392T>C (p.Ile2131Thr) |
single nucleotide variant |
Usher syndrome type 1B [RCV001828922]|not provided [RCV001239488] |
Chr11:77212989 [GRCh38] Chr11:76924034 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.2003G>A (p.Arg668His) |
single nucleotide variant |
not provided [RCV001243218] |
Chr11:77174823 [GRCh38] Chr11:76885869 [GRCh37] Chr11:11q13.5 |
pathogenic |
NM_000260.4(MYO7A):c.4852G>A (p.Ala1618Thr) |
single nucleotide variant |
Usher syndrome type 1B [RCV001829946]|not provided [RCV001245047] |
Chr11:77199818 [GRCh38] Chr11:76910863 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.5146G>T (p.Glu1716Ter) |
single nucleotide variant |
Usher syndrome type 1B [RCV001833964]|not provided [RCV001227348] |
Chr11:77202402 [GRCh38] Chr11:76913447 [GRCh37] Chr11:11q13.5 |
pathogenic |
NM_000260.4(MYO7A):c.5186C>T (p.Thr1729Met) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 11 [RCV001113481]|Autosomal recessive nonsyndromic hearing loss 2 [RCV001113479]|Usher syndrome type 1 [RCV001113480]|not provided [RCV001856495] |
Chr11:77203077 [GRCh38] Chr11:76914122 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.6135G>C (p.Lys2045Asn) |
single nucleotide variant |
not provided [RCV001230968] |
Chr11:77211235 [GRCh38] Chr11:76922280 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.4940G>C (p.Gly1647Ala) |
single nucleotide variant |
Usher syndrome type 1B [RCV001834001]|not provided [RCV001231022] |
Chr11:77201535 [GRCh38] Chr11:76912580 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.4285G>A (p.Glu1429Lys) |
single nucleotide variant |
Usher syndrome type 1B [RCV001829037]|not provided [RCV001243587] |
Chr11:77194486 [GRCh38] Chr11:76905531 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.4804C>T (p.Arg1602Trp) |
single nucleotide variant |
Usher syndrome type 1B [RCV001279804]|not provided [RCV001245315] |
Chr11:77199770 [GRCh38] Chr11:76910815 [GRCh37] Chr11:11q13.5 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_000260.4(MYO7A):c.5162A>G (p.Tyr1721Cys) |
single nucleotide variant |
Usher syndrome type 1B [RCV001835239]|not provided [RCV001245419] |
Chr11:77202418 [GRCh38] Chr11:76913463 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.2404C>T (p.Arg802Cys) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 11 [RCV002489715]|Usher syndrome type 1B [RCV001833676]|not provided [RCV001071637] |
Chr11:77179771 [GRCh38] Chr11:76890817 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.3887G>A (p.Arg1296Gln) |
single nucleotide variant |
not provided [RCV001243799] |
Chr11:77190833 [GRCh38] Chr11:76901878 [GRCh37] Chr11:11q13.5 |
likely benign|uncertain significance |
NM_000260.4(MYO7A):c.1961G>A (p.Arg654His) |
single nucleotide variant |
Usher syndrome type 1B [RCV001833836]|not provided [RCV001208944] |
Chr11:77174781 [GRCh38] Chr11:76885827 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.5156_5157del (p.Ser1718_Tyr1719insTer) |
deletion |
not provided [RCV001209036] |
Chr11:77202411..77202412 [GRCh38] Chr11:76913456..76913457 [GRCh37] Chr11:11q13.5 |
pathogenic |
NM_000260.4(MYO7A):c.3607G>T (p.Ala1203Ser) |
single nucleotide variant |
Usher syndrome type 1B [RCV001835186]|not provided [RCV001243889] |
Chr11:77189447 [GRCh38] Chr11:76900492 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.4153-7C>G |
single nucleotide variant |
Usher syndrome type 1B [RCV001835173]|not provided [RCV001243517] |
Chr11:77194347 [GRCh38] Chr11:76905392 [GRCh37] Chr11:11q13.5 |
likely benign|uncertain significance |
NM_000260.4(MYO7A):c.4759G>T (p.Ala1587Ser) |
single nucleotide variant |
Usher syndrome type 1B [RCV001833810]|not provided [RCV001206308] |
Chr11:77199725 [GRCh38] Chr11:76910770 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.4398G>A (p.Trp1466Ter) |
single nucleotide variant |
not provided [RCV001217557] |
Chr11:77197555 [GRCh38] Chr11:76908600 [GRCh37] Chr11:11q13.5 |
pathogenic |
NM_000260.4(MYO7A):c.5458C>G (p.Gln1820Glu) |
single nucleotide variant |
Usher syndrome type 1B [RCV001827377]|not provided [RCV001059915] |
Chr11:77204207 [GRCh38] Chr11:76915252 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.982C>T (p.Leu328=) |
single nucleotide variant |
not provided [RCV000934454] |
Chr11:77158409 [GRCh38] Chr11:76869455 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.879G>A (p.Val293=) |
single nucleotide variant |
not provided [RCV000890137] |
Chr11:77158306 [GRCh38] Chr11:76869352 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.5636+8G>A |
single nucleotide variant |
not provided [RCV000913728] |
Chr11:77205625 [GRCh38] Chr11:76916670 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.1357T>C (p.Cys453Arg) |
single nucleotide variant |
not provided [RCV003011723] |
Chr11:77162133 [GRCh38] Chr11:76873179 [GRCh37] Chr11:11q13.5 |
pathogenic |
NM_000260.4(MYO7A):c.3664G>A (p.Gly1222Ser) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 11 [RCV001578722]|Autosomal recessive nonsyndromic hearing loss 2 [RCV001578723]|Usher syndrome type 1 [RCV001578724]|not provided [RCV001751803] |
Chr11:77190053 [GRCh38] Chr11:76901098 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.2905-172_2905-164del |
deletion |
not provided [RCV001570259] |
Chr11:77181771..77181779 [GRCh38] Chr11:76892817..76892825 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.1343+32C>T |
single nucleotide variant |
not provided [RCV001575358] |
Chr11:77161147 [GRCh38] Chr11:76872193 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.183del (p.Thr62fs) |
deletion |
Autosomal recessive nonsyndromic hearing loss 2 [RCV000988598]|not provided [RCV002549717] |
Chr11:77147845 [GRCh38] Chr11:76858891 [GRCh37] Chr11:11q13.5 |
pathogenic |
NM_000260.4(MYO7A):c.1198_1199dup (p.Gly401fs) |
duplication |
Autosomal recessive nonsyndromic hearing loss 2 [RCV000988602] |
Chr11:77160278..77160279 [GRCh38] Chr11:76871324..76871325 [GRCh37] Chr11:11q13.5 |
pathogenic |
NM_000260.4(MYO7A):c.2750del (p.Glu917fs) |
deletion |
Autosomal recessive nonsyndromic hearing loss 2 [RCV000988607]|not provided [RCV001869356] |
Chr11:77181435 [GRCh38] Chr11:76892481 [GRCh37] Chr11:11q13.5 |
pathogenic |
NM_000260.4(MYO7A):c.1118G>T (p.Arg373Leu) |
single nucleotide variant |
Usher syndrome type 1B [RCV001827475]|not provided [RCV001560018] |
Chr11:77160200 [GRCh38] Chr11:76871246 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.2694+194G>C |
single nucleotide variant |
not provided [RCV001635777] |
Chr11:77180675 [GRCh38] Chr11:76891721 [GRCh37] Chr11:11q13.5 |
benign |
NM_000260.4(MYO7A):c.3286-229A>G |
single nucleotide variant |
not provided [RCV001594075] |
Chr11:77182839 [GRCh38] Chr11:76893884 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.2905-172_2905-162del |
deletion |
not provided [RCV001568621] |
Chr11:77181769..77181779 [GRCh38] Chr11:76892815..76892825 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.3504-39T>C |
single nucleotide variant |
not provided [RCV001554982] |
Chr11:77189305 [GRCh38] Chr11:76900350 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.5326+95G>A |
single nucleotide variant |
not provided [RCV001560383] |
Chr11:77203312 [GRCh38] Chr11:76914357 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.736-117C>G |
single nucleotide variant |
not provided [RCV001560415] |
Chr11:77157162 [GRCh38] Chr11:76868208 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.3924+247C>T |
single nucleotide variant |
not provided [RCV001555290] |
Chr11:77191117 [GRCh38] Chr11:76902162 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.1797+51C>T |
single nucleotide variant |
not provided [RCV001555328] |
Chr11:77166213 [GRCh38] Chr11:76877259 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.1201-316G>A |
single nucleotide variant |
not provided [RCV001555602] |
Chr11:77160657 [GRCh38] Chr11:76871703 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.3925-119C>T |
single nucleotide variant |
not provided [RCV001561228] |
Chr11:77191932 [GRCh38] Chr11:76902977 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.5857-29_5857-25dup |
duplication |
not provided [RCV001566464] |
Chr11:77208400..77208401 [GRCh38] Chr11:76919445..76919446 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.850-328G>T |
single nucleotide variant |
not provided [RCV001556103] |
Chr11:77157949 [GRCh38] Chr11:76868995 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.2534C>T (p.Ala845Val) |
single nucleotide variant |
Inborn genetic diseases [RCV003295172] |
Chr11:77179901 [GRCh38] Chr11:76890947 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.5458C>T (p.Gln1820Ter) |
single nucleotide variant |
not provided [RCV001053710] |
Chr11:77204207 [GRCh38] Chr11:76915252 [GRCh37] Chr11:11q13.5 |
pathogenic |
NM_000260.4(MYO7A):c.321_322insA (p.Tyr108fs) |
insertion |
not provided [RCV001008197] |
Chr11:77155942..77155943 [GRCh38] Chr11:76866988..76866989 [GRCh37] Chr11:11q13.5 |
pathogenic |
NM_000260.4(MYO7A):c.5481-84C>T |
single nucleotide variant |
not provided [RCV001593316] |
Chr11:77205378 [GRCh38] Chr11:76916423 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.5326+90G>A |
single nucleotide variant |
not provided [RCV001618075] |
Chr11:77203307 [GRCh38] Chr11:76914352 [GRCh37] Chr11:11q13.5 |
benign |
NM_000260.4(MYO7A):c.6051+130C>T |
single nucleotide variant |
not provided [RCV001677030] |
Chr11:77208933 [GRCh38] Chr11:76919978 [GRCh37] Chr11:11q13.5 |
benign |
NM_000260.4(MYO7A):c.5168+318G>A |
single nucleotide variant |
not provided [RCV001619635] |
Chr11:77202742 [GRCh38] Chr11:76913787 [GRCh37] Chr11:11q13.5 |
benign |
NM_000260.4(MYO7A):c.132+133C>G |
single nucleotide variant |
not provided [RCV001621478] |
Chr11:77142955 [GRCh38] Chr11:76854001 [GRCh37] Chr11:11q13.5 |
benign |
NM_000260.4(MYO7A):c.4074C>A (p.Ser1358=) |
single nucleotide variant |
not provided [RCV001727927]|not specified [RCV001699848] |
Chr11:77192200 [GRCh38] Chr11:76903245 [GRCh37] Chr11:11q13.5 |
benign|likely benign |
NM_000260.4(MYO7A):c.2695-88T>C |
single nucleotide variant |
not provided [RCV001688822] |
Chr11:77181292 [GRCh38] Chr11:76892338 [GRCh37] Chr11:11q13.5 |
benign |
NM_000260.4(MYO7A):c.5742+155C>T |
single nucleotide variant |
not provided [RCV001593336] |
Chr11:77206357 [GRCh38] Chr11:76917402 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.5043+131A>G |
single nucleotide variant |
not provided [RCV001619462] |
Chr11:77201769 [GRCh38] Chr11:76912814 [GRCh37] Chr11:11q13.5 |
benign |
NM_000260.4(MYO7A):c.5169-189G>A |
single nucleotide variant |
not provided [RCV001536618] |
Chr11:77202871 [GRCh38] Chr11:76913916 [GRCh37] Chr11:11q13.5 |
benign |
NM_000260.4(MYO7A):c.3289C>T (p.Gln1097Ter) |
single nucleotide variant |
not provided [RCV001723297] |
Chr11:77183071 [GRCh38] Chr11:76894116 [GRCh37] Chr11:11q13.5 |
pathogenic |
NM_000260.4(MYO7A):c.2905-180_2905-179insGTT |
insertion |
not provided [RCV001714010] |
Chr11:77181769..77181770 [GRCh38] Chr11:76892815..76892816 [GRCh37] Chr11:11q13.5 |
benign |
NM_000260.4(MYO7A):c.6051+98C>A |
single nucleotide variant |
not provided [RCV001716567] |
Chr11:77208901 [GRCh38] Chr11:76919946 [GRCh37] Chr11:11q13.5 |
benign |
NM_000260.4(MYO7A):c.5856+58C>T |
single nucleotide variant |
not provided [RCV001597945] |
Chr11:77207460 [GRCh38] Chr11:76918505 [GRCh37] Chr11:11q13.5 |
benign |
NM_000260.4(MYO7A):c.1691-195T>C |
single nucleotide variant |
not provided [RCV001717797] |
Chr11:77165861 [GRCh38] Chr11:76876907 [GRCh37] Chr11:11q13.5 |
benign |
NM_000260.4(MYO7A):c.6355-278G>A |
single nucleotide variant |
not provided [RCV001580948] |
Chr11:77212674 [GRCh38] Chr11:76923719 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.5327-301C>G |
single nucleotide variant |
not provided [RCV001581006] |
Chr11:77203775 [GRCh38] Chr11:76914820 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.3276C>T (p.Gly1092=) |
single nucleotide variant |
Usher syndrome type 1B [RCV001832836]|not provided [RCV001663353] |
Chr11:77182591 [GRCh38] Chr11:76893636 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.6559-255G>C |
single nucleotide variant |
not provided [RCV001675400] |
Chr11:77214352 [GRCh38] Chr11:76925397 [GRCh37] Chr11:11q13.5 |
benign |
NM_000260.4(MYO7A):c.2905-150_2905-149del |
deletion |
not provided [RCV001719672] |
Chr11:77181780..77181781 [GRCh38] Chr11:76892826..76892827 [GRCh37] Chr11:11q13.5 |
benign |
NM_000260.4(MYO7A):c.2094+162G>A |
single nucleotide variant |
not provided [RCV001719673] |
Chr11:77175076 [GRCh38] Chr11:76886122 [GRCh37] Chr11:11q13.5 |
benign |
NM_000260.4(MYO7A):c.284A>G (p.Tyr95Cys) |
single nucleotide variant |
not provided [RCV001564693] |
Chr11:77147949 [GRCh38] Chr11:76858995 [GRCh37] Chr11:11q13.5 |
likely pathogenic |
NM_000260.4(MYO7A):c.6237+234del |
deletion |
not provided [RCV001717794] |
Chr11:77211570 [GRCh38] Chr11:76922615 [GRCh37] Chr11:11q13.5 |
benign |
NM_000260.4(MYO7A):c.5749G>A (p.Glu1917Lys) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 11 [RCV002496024]|not provided [RCV001699768] |
Chr11:77207295 [GRCh38] Chr11:76918340 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.2695-247G>A |
single nucleotide variant |
not provided [RCV001669735] |
Chr11:77181133 [GRCh38] Chr11:76892179 [GRCh37] Chr11:11q13.5 |
benign |
NM_000260.4(MYO7A):c.133-128C>G |
single nucleotide variant |
not provided [RCV001674377] |
Chr11:77147670 [GRCh38] Chr11:76858716 [GRCh37] Chr11:11q13.5 |
benign |
NM_000260.4(MYO7A):c.2282+177T>C |
single nucleotide variant |
not provided [RCV001716297] |
Chr11:77177820 [GRCh38] Chr11:76888866 [GRCh37] Chr11:11q13.5 |
benign |
NM_000260.4(MYO7A):c.2517T>C (p.Ala839=) |
single nucleotide variant |
not provided [RCV001727936]|not specified [RCV001699733] |
Chr11:77179884 [GRCh38] Chr11:76890930 [GRCh37] Chr11:11q13.5 |
benign|likely benign |
NM_000260.4(MYO7A):c.1003+179G>A |
single nucleotide variant |
not provided [RCV001638450] |
Chr11:77158609 [GRCh38] Chr11:76869655 [GRCh37] Chr11:11q13.5 |
benign |
NM_000260.4(MYO7A):c.4762G>A (p.Glu1588Lys) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 11 [RCV001109031]|Autosomal recessive nonsyndromic hearing loss 2 [RCV001109032]|Usher syndrome type 1 [RCV001109033]|not provided [RCV001207900] |
Chr11:77199728 [GRCh38] Chr11:76910773 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.5327-10C>G |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 11 [RCV001109247]|Autosomal recessive nonsyndromic hearing loss 2 [RCV001109246]|Usher syndrome type 1 [RCV001111575] |
Chr11:77204066 [GRCh38] Chr11:76915111 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.1719G>T (p.Leu573=) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 11 [RCV001109813]|Autosomal recessive nonsyndromic hearing loss 2 [RCV001109815]|Usher syndrome type 1 [RCV001109814] |
Chr11:77166084 [GRCh38] Chr11:76877130 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.*392A>G |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 11 [RCV001109822]|Autosomal recessive nonsyndromic hearing loss 2 [RCV001110611]|Usher syndrome type 1 [RCV001109823]|not provided [RCV001786434] |
Chr11:77215088 [GRCh38] Chr11:76926133 [GRCh37] Chr11:11q13.5 |
benign|likely benign|uncertain significance |
NM_000260.4(MYO7A):c.2410C>T (p.Arg804Trp) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 11 [RCV001110002]|Autosomal recessive nonsyndromic hearing loss 2 [RCV001110000]|Inborn genetic diseases [RCV003163257]|Usher syndrome type 1 [RCV001110001]|not provided [RCV001856470] |
Chr11:77179777 [GRCh38] Chr11:76890823 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.4040G>A (p.Arg1347His) |
single nucleotide variant |
Retinal dystrophy [RCV001075520]|Usher syndrome type 1B [RCV001827221]|not provided [RCV001037188] |
Chr11:77192166 [GRCh38] Chr11:76903211 [GRCh37] Chr11:11q13.5 |
likely pathogenic|uncertain significance |
NM_000260.4(MYO7A):c.495G>A (p.Thr165=) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 11 [RCV001111774]|Autosomal recessive nonsyndromic hearing loss 2 [RCV001111772]|Usher syndrome type 1 [RCV001111773]|not provided [RCV001862884] |
Chr11:77156684 [GRCh38] Chr11:76867730 [GRCh37] Chr11:11q13.5 |
likely benign|uncertain significance |
NM_000260.4(MYO7A):c.5963C>T (p.Thr1988Ile) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 11 [RCV001112313]|Autosomal recessive nonsyndromic hearing loss 2 [RCV001112312]|Usher syndrome type 1 [RCV001111850] |
Chr11:77208715 [GRCh38] Chr11:76919760 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.5397C>A (p.Ile1799=) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 11 [RCV001112052]|Autosomal recessive nonsyndromic hearing loss 2 [RCV001111579]|Usher syndrome type 1 [RCV001112051]|not provided [RCV001471251] |
Chr11:77204146 [GRCh38] Chr11:76915191 [GRCh37] Chr11:11q13.5 |
likely benign|uncertain significance |
NM_000260.4(MYO7A):c.2838del (p.Met946fs) |
deletion |
not provided [RCV001069008] |
Chr11:77181523 [GRCh38] Chr11:76892569 [GRCh37] Chr11:11q13.5 |
pathogenic|likely pathogenic |
NM_000260.4(MYO7A):c.2787G>A (p.Met929Ile) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 11 [RCV001112843]|Autosomal recessive nonsyndromic hearing loss 2 [RCV001112845]|Usher syndrome type 1 [RCV001112844] |
Chr11:77181472 [GRCh38] Chr11:76892518 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.4432A>C (p.Lys1478Gln) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 11 [RCV001113188]|Autosomal recessive nonsyndromic hearing loss 2 [RCV001113189]|Usher syndrome type 1 [RCV001113190] |
Chr11:77197589 [GRCh38] Chr11:76908634 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.37G>C (p.Asp13His) |
single nucleotide variant |
Usher syndrome type 1B [RCV001828521]|not provided [RCV001069821] |
Chr11:77142727 [GRCh38] Chr11:76853773 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.2694+1G>A |
single nucleotide variant |
Retinal dystrophy [RCV001075695]|not provided [RCV001053752] |
Chr11:77180482 [GRCh38] Chr11:76891528 [GRCh37] Chr11:11q13.5 |
likely pathogenic |
NM_000260.4(MYO7A):c.6111G>A (p.Leu2037=) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 11 [RCV001113658]|Autosomal recessive nonsyndromic hearing loss 2 [RCV001113660]|Usher syndrome type 1 [RCV001113659]|not provided [RCV001435998] |
Chr11:77211211 [GRCh38] Chr11:76922256 [GRCh37] Chr11:11q13.5 |
likely benign|uncertain significance |
NM_000260.4(MYO7A):c.3865G>A (p.Asp1289Asn) |
single nucleotide variant |
Usher syndrome type 1B [RCV001827362]|not provided [RCV001057963] |
Chr11:77190811 [GRCh38] Chr11:76901856 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.6632C>T (p.Ser2211Phe) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 11 [RCV001109744]|Autosomal recessive nonsyndromic hearing loss 2 [RCV001109742]|Usher syndrome type 1 [RCV001109743]|Usher syndrome type 1B [RCV001277343]|not provided [RCV002556146] |
Chr11:77214680 [GRCh38] Chr11:76925725 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.1797+13C>T |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 11 [RCV001109817]|Autosomal recessive nonsyndromic hearing loss 2 [RCV001109818]|Usher syndrome type 1 [RCV001109816]|not provided [RCV001856467] |
Chr11:77166175 [GRCh38] Chr11:76877221 [GRCh37] Chr11:11q13.5 |
likely benign|uncertain significance |
NM_000260.4(MYO7A):c.*315C>G |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 11 [RCV001109821]|Autosomal recessive nonsyndromic hearing loss 2 [RCV001109819]|Usher syndrome type 1 [RCV001109820] |
Chr11:77215011 [GRCh38] Chr11:76926056 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.4051T>C (p.Phe1351Leu) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 11 [RCV001110440]|Autosomal recessive nonsyndromic hearing loss 2 [RCV001110441]|Usher syndrome type 1 [RCV001110439]|not provided [RCV001213029] |
Chr11:77192177 [GRCh38] Chr11:76903222 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.*75C>T |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 11 [RCV001110530]|Autosomal recessive nonsyndromic hearing loss 2 [RCV001110528]|Usher syndrome type 1 [RCV001110529] |
Chr11:77214771 [GRCh38] Chr11:76925816 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.*416C>T |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 11 [RCV001110612]|Autosomal recessive nonsyndromic hearing loss 2 [RCV001110614]|Usher syndrome type 1 [RCV001110613] |
Chr11:77215112 [GRCh38] Chr11:76926157 [GRCh37] Chr11:11q13.5 |
likely benign|uncertain significance |
NM_000260.4(MYO7A):c.*440G>A |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 11 [RCV001110617]|Autosomal recessive nonsyndromic hearing loss 2 [RCV001110615]|Usher syndrome type 1 [RCV001110616] |
Chr11:77215136 [GRCh38] Chr11:76926181 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.735+3G>A |
single nucleotide variant |
Usher syndrome type 1B [RCV001274693]|not provided [RCV001064523] |
Chr11:77157007 [GRCh38] Chr11:76868053 [GRCh37] Chr11:11q13.5 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_000260.4(MYO7A):c.3862G>T (p.Ala1288Ser) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 11 [RCV001111092]|Autosomal recessive nonsyndromic hearing loss 2 [RCV001111094]|Usher syndrome type 1 [RCV001111093] |
Chr11:77190808 [GRCh38] Chr11:76901853 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.3658C>G (p.Pro1220Ala) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 11 [RCV002476887]|Autosomal recessive nonsyndromic hearing loss 2 [RCV001580738] |
Chr11:77190047 [GRCh38] Chr11:76901092 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.6464C>T (p.Thr2155Ile) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 2 [RCV001580740]|Usher syndrome type 1 [RCV001580741] |
Chr11:77213885 [GRCh38] Chr11:76924930 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.2905-153_2905-149del |
deletion |
not provided [RCV001588180] |
Chr11:77181780..77181784 [GRCh38] Chr11:76892826..76892830 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.3750+57GT[6] |
microsatellite |
not provided [RCV001588734] |
Chr11:77190196..77190197 [GRCh38] Chr11:76901241..76901242 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.2355del (p.Asn786fs) |
deletion |
Usher syndrome type 1 [RCV001004380] |
Chr11:77179117 [GRCh38] Chr11:76890163 [GRCh37] Chr11:11q13.5 |
likely pathogenic |
NM_000260.4(MYO7A):c.3108+82dup |
duplication |
not provided [RCV001650047] |
Chr11:77182234..77182235 [GRCh38] Chr11:76893280..76893281 [GRCh37] Chr11:11q13.5 |
benign |
NM_000260.4(MYO7A):c.1690+116AT[9] |
microsatellite |
not provided [RCV001671400] |
Chr11:77163103..77163104 [GRCh38] Chr11:76874149..76874150 [GRCh37] Chr11:11q13.5 |
benign |
NM_000260.4(MYO7A):c.548C>T (p.Ser183Leu) |
single nucleotide variant |
MYO7A-related condition [RCV003405287]|Usher syndrome type 1B [RCV001275893]|not provided [RCV001067781]|not specified [RCV001195388] |
Chr11:77156737 [GRCh38] Chr11:76867783 [GRCh37] Chr11:11q13.5 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_000260.4(MYO7A):c.2905-162T>G |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 11 [RCV001533335]|Autosomal recessive nonsyndromic hearing loss 2 [RCV001533336]|Usher syndrome type 1 [RCV001533337]|not provided [RCV001647369] |
Chr11:77181789 [GRCh38] Chr11:76892835 [GRCh37] Chr11:11q13.5 |
benign |
NM_000260.4(MYO7A):c.4441+89T>C |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 11 [RCV001533395]|Autosomal recessive nonsyndromic hearing loss 2 [RCV001533396]|Usher syndrome type 1 [RCV001533397] |
Chr11:77197687 [GRCh38] Chr11:76908732 [GRCh37] Chr11:11q13.5 |
benign|likely benign |
NM_000260.4(MYO7A):c.5637-36C>T |
single nucleotide variant |
not provided [RCV001691194] |
Chr11:77206061 [GRCh38] Chr11:76917106 [GRCh37] Chr11:11q13.5 |
benign |
NM_000260.4(MYO7A):c.3375+261C>T |
single nucleotide variant |
not provided [RCV001707410] |
Chr11:77183418 [GRCh38] Chr11:76894463 [GRCh37] Chr11:11q13.5 |
benign |
NM_000260.4(MYO7A):c.6558+25A>G |
single nucleotide variant |
not provided [RCV001640801] |
Chr11:77214004 [GRCh38] Chr11:76925049 [GRCh37] Chr11:11q13.5 |
benign |
NM_000260.4(MYO7A):c.2587-155G>A |
single nucleotide variant |
not provided [RCV001589599] |
Chr11:77180219 [GRCh38] Chr11:76891265 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.3376-193C>T |
single nucleotide variant |
not provided [RCV001691260] |
Chr11:77184395 [GRCh38] Chr11:76895440 [GRCh37] Chr11:11q13.5 |
benign |
NM_000260.4(MYO7A):c.1935+203del |
deletion |
not provided [RCV001613980] |
Chr11:77173083 [GRCh38] Chr11:76884129 [GRCh37] Chr11:11q13.5 |
benign |
NM_000260.4(MYO7A):c.6089del (p.Thr2030fs) |
deletion |
not provided [RCV001543514] |
Chr11:77211189 [GRCh38] Chr11:76922234 [GRCh37] Chr11:11q13.5 |
pathogenic |
NM_000260.4(MYO7A):c.5327-406G>T |
single nucleotide variant |
not provided [RCV001649079] |
Chr11:77203670 [GRCh38] Chr11:76914715 [GRCh37] Chr11:11q13.5 |
benign |
NM_000260.4(MYO7A):c.6558+238A>G |
single nucleotide variant |
not provided [RCV001650069] |
Chr11:77214217 [GRCh38] Chr11:76925262 [GRCh37] Chr11:11q13.5 |
benign |
NM_000260.4(MYO7A):c.785T>G (p.Met262Arg) |
single nucleotide variant |
Retinitis pigmentosa [RCV001591802] |
Chr11:77157328 [GRCh38] Chr11:76868374 [GRCh37] Chr11:11q13.5 |
likely pathogenic |
NM_000260.4(MYO7A):c.2587-111_2587-110insTGCCAAATTATTTGGC |
insertion |
not provided [RCV001680348] |
Chr11:77180262..77180263 [GRCh38] Chr11:76891308..76891309 [GRCh37] Chr11:11q13.5 |
benign |
NM_000260.4(MYO7A):c.4442-398C>T |
single nucleotide variant |
not provided [RCV001669545] |
Chr11:77198097 [GRCh38] Chr11:76909142 [GRCh37] Chr11:11q13.5 |
benign |
NM_000260.4(MYO7A):c.5480+231A>G |
single nucleotide variant |
not provided [RCV001589952] |
Chr11:77204460 [GRCh38] Chr11:76915505 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.5326+101A>C |
single nucleotide variant |
not provided [RCV001536197] |
Chr11:77203318 [GRCh38] Chr11:76914363 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.3924+87G>A |
single nucleotide variant |
not provided [RCV001641039] |
Chr11:77190957 [GRCh38] Chr11:76902002 [GRCh37] Chr11:11q13.5 |
benign |
NM_000260.4(MYO7A):c.285+73C>T |
single nucleotide variant |
not provided [RCV001651850] |
Chr11:77148023 [GRCh38] Chr11:76859069 [GRCh37] Chr11:11q13.5 |
benign |
NM_000260.4(MYO7A):c.5945-9G>C |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 11 [RCV001111848]|Autosomal recessive nonsyndromic hearing loss 2 [RCV001111849]|Usher syndrome type 1 [RCV001111847] |
Chr11:77208688 [GRCh38] Chr11:76919733 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.6354+300G>A |
single nucleotide variant |
not provided [RCV001581316] |
Chr11:77212237 [GRCh38] Chr11:76923282 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.3924+96C>T |
single nucleotide variant |
not provided [RCV001583749] |
Chr11:77190966 [GRCh38] Chr11:76902011 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.3750+8C>T |
single nucleotide variant |
Usher syndrome type 1B [RCV001272515]|not provided [RCV001065863] |
Chr11:77190147 [GRCh38] Chr11:76901192 [GRCh37] Chr11:11q13.5 |
likely benign|uncertain significance |
NM_000260.4(MYO7A):c.2755G>A (p.Ala919Thr) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 11 [RCV001110853]|Autosomal recessive nonsyndromic hearing loss 2 [RCV001112842]|Usher syndrome type 1 [RCV001110852]|Usher syndrome type 1B [RCV001833710]|not provided [RCV001245665] |
Chr11:77181440 [GRCh38] Chr11:76892486 [GRCh37] Chr11:11q13.5 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_000260.4(MYO7A):c.4853-87A>C |
single nucleotide variant |
not provided [RCV001682408] |
Chr11:77201361 [GRCh38] Chr11:76912406 [GRCh37] Chr11:11q13.5 |
benign |
NM_000260.4(MYO7A):c.1343+121G>A |
single nucleotide variant |
not provided [RCV001696554] |
Chr11:77161236 [GRCh38] Chr11:76872282 [GRCh37] Chr11:11q13.5 |
benign |
NM_000260.4(MYO7A):c.3825C>T (p.Asp1275=) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 11 [RCV001578629]|Autosomal recessive nonsyndromic hearing loss 2 [RCV001578630]|Usher syndrome type 1 [RCV001578631]|not provided [RCV002072278] |
Chr11:77190771 [GRCh38] Chr11:76901816 [GRCh37] Chr11:11q13.5 |
likely benign|uncertain significance |
NM_000260.4(MYO7A):c.5856+289A>G |
single nucleotide variant |
not provided [RCV001530761] |
Chr11:77207691 [GRCh38] Chr11:76918736 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.2758C>G (p.Arg920Gly) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 11 [RCV001095757] |
Chr11:77181443 [GRCh38] Chr11:76892489 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.613A>G (p.Ile205Val) |
single nucleotide variant |
not provided [RCV001047349] |
Chr11:77156882 [GRCh38] Chr11:76867928 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.3957dup (p.Met1320fs) |
duplication |
not provided [RCV001047384] |
Chr11:77192082..77192083 [GRCh38] Chr11:76903127..76903128 [GRCh37] Chr11:11q13.5 |
pathogenic |
NM_000260.4(MYO7A):c.4003G>A (p.Ala1335Thr) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 11 [RCV002480775]|Usher syndrome type 1B [RCV001828883]|not provided [RCV001236711] |
Chr11:77192129 [GRCh38] Chr11:76903174 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.1655A>G (p.Asn552Ser) |
single nucleotide variant |
Usher syndrome type 1B [RCV001833832]|not provided [RCV001208431] |
Chr11:77162953 [GRCh38] Chr11:76873999 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.285C>A (p.Tyr95Ter) |
single nucleotide variant |
not provided [RCV001208462] |
Chr11:77147950 [GRCh38] Chr11:76858996 [GRCh37] Chr11:11q13.5 |
pathogenic |
NM_000260.4(MYO7A):c.4470C>G (p.Ile1490Met) |
single nucleotide variant |
not provided [RCV001204856] |
Chr11:77198523 [GRCh38] Chr11:76909568 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.1426G>T (p.Glu476Ter) |
single nucleotide variant |
not provided [RCV001234814] |
Chr11:77162202 [GRCh38] Chr11:76873248 [GRCh37] Chr11:11q13.5 |
pathogenic |
NM_000260.4(MYO7A):c.2464G>C (p.Ala822Pro) |
single nucleotide variant |
Retinal dystrophy [RCV001074878] |
Chr11:77179831 [GRCh38] Chr11:76890877 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.3616G>A (p.Glu1206Lys) |
single nucleotide variant |
Usher syndrome type 1B [RCV001832400]|not provided [RCV001040536] |
Chr11:77189456 [GRCh38] Chr11:76900501 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.3143del (p.Phe1048fs) |
deletion |
not provided [RCV001048879] |
Chr11:77182457 [GRCh38] Chr11:76893502 [GRCh37] Chr11:11q13.5 |
pathogenic |
NM_000260.4(MYO7A):c.5681C>T (p.Ala1894Val) |
single nucleotide variant |
Usher syndrome type 1B [RCV001833793]|not provided [RCV001203972] |
Chr11:77206141 [GRCh38] Chr11:76917186 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.5245C>T (p.Arg1749Trp) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 11 [RCV001114890]|Autosomal recessive nonsyndromic hearing loss 2 [RCV001114889]|Usher syndrome type 1 [RCV001114891]|Usher syndrome type 1B [RCV001833660]|not provided [RCV001069161] |
Chr11:77203136 [GRCh38] Chr11:76914181 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.5837_5838del (p.Phe1946fs) |
deletion |
not provided [RCV001229859] |
Chr11:77207382..77207383 [GRCh38] Chr11:76918427..76918428 [GRCh37] Chr11:11q13.5 |
pathogenic |
NM_000260.4(MYO7A):c.4385C>A (p.Ala1462Asp) |
single nucleotide variant |
Retinal dystrophy [RCV001075694] |
Chr11:77197542 [GRCh38] Chr11:76908587 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.2120G>A (p.Arg707His) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 11 [RCV001110699]|Autosomal recessive nonsyndromic hearing loss 2 [RCV001110701]|Usher syndrome type 1 [RCV001110700]|Usher syndrome type 1B [RCV001832403]|not provided [RCV001041686] |
Chr11:77175397 [GRCh38] Chr11:76886443 [GRCh37] Chr11:11q13.5 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_000260.4(MYO7A):c.2019del (p.Ile674fs) |
deletion |
not provided [RCV001041730] |
Chr11:77174836 [GRCh38] Chr11:76885882 [GRCh37] Chr11:11q13.5 |
pathogenic |
NM_000260.4(MYO7A):c.1621C>A (p.Pro541Thr) |
single nucleotide variant |
Usher syndrome type 1B [RCV001272495]|not provided [RCV001049816] |
Chr11:77162919 [GRCh38] Chr11:76873965 [GRCh37] Chr11:11q13.5 |
likely benign|uncertain significance |
NM_000260.4(MYO7A):c.4613del (p.Cys1538fs) |
deletion |
not provided [RCV001050111] |
Chr11:77199579 [GRCh38] Chr11:76910624 [GRCh37] Chr11:11q13.5 |
pathogenic |
NM_000260.4(MYO7A):c.5368C>T (p.Arg1790Cys) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 2 [RCV001580562]|Usher syndrome type 1B [RCV001273511]|not provided [RCV001050122] |
Chr11:77204117 [GRCh38] Chr11:76915162 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.741G>A (p.Leu247=) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 11 [RCV001111841]|Autosomal recessive nonsyndromic hearing loss 2 [RCV001111842]|Usher syndrome type 1 [RCV001111840] |
Chr11:77157284 [GRCh38] Chr11:76868330 [GRCh37] Chr11:11q13.5 |
likely benign|uncertain significance |
NM_000260.4(MYO7A):c.1853T>G (p.Leu618Arg) |
single nucleotide variant |
Usher syndrome type 2 [RCV001199711] |
Chr11:77172803 [GRCh38] Chr11:76883849 [GRCh37] Chr11:11q13.5 |
pathogenic |
NM_000260.4(MYO7A):c.4852+1G>A |
single nucleotide variant |
Usher syndrome type 1 [RCV001199713] |
Chr11:77199819 [GRCh38] Chr11:76910864 [GRCh37] Chr11:11q13.5 |
pathogenic |
NM_000260.4(MYO7A):c.1871C>T (p.Thr624Met) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 11 [RCV001112596]|Autosomal dominant nonsyndromic hearing loss 11 [RCV002482207]|Autosomal recessive nonsyndromic hearing loss 2 [RCV001112595]|Usher syndrome type 1 [RCV001112594]|Usher syndrome type 1B [RCV001279390]|not provided [RCV001568541] |
Chr11:77172821 [GRCh38] Chr11:76883867 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.1942G>A (p.Asp648Asn) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 11 [RCV001112599]|Autosomal recessive nonsyndromic hearing loss 2 [RCV001112598]|Usher syndrome type 1 [RCV001112597]|not provided [RCV002558125] |
Chr11:77174762 [GRCh38] Chr11:76885808 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.3878_3879del (p.Leu1293fs) |
microsatellite |
Usher syndrome type 1 [RCV001004382] |
Chr11:77190818..77190819 [GRCh38] Chr11:76901863..76901864 [GRCh37] Chr11:11q13.5 |
pathogenic |
NM_000260.4(MYO7A):c.4996_4997del (p.Ser1666fs) |
deletion |
Usher syndrome type 1 [RCV001002685] |
Chr11:77201591..77201592 [GRCh38] Chr11:76912636..76912637 [GRCh37] Chr11:11q13.5 |
pathogenic |
NM_000260.4(MYO7A):c.2287A>C (p.Asn763His) |
single nucleotide variant |
not provided [RCV001234997] |
Chr11:77179049 [GRCh38] Chr11:76890095 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.5342T>C (p.Met1781Thr) |
single nucleotide variant |
not provided [RCV001051558] |
Chr11:77204091 [GRCh38] Chr11:76915136 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.4354C>T (p.Gln1452Ter) |
single nucleotide variant |
Retinal dystrophy [RCV001075422]|Usher syndrome type 1B [RCV001832511]|not provided [RCV001056879] |
Chr11:77197511 [GRCh38] Chr11:76908556 [GRCh37] Chr11:11q13.5 |
pathogenic |
NM_000260.4(MYO7A):c.999T>A (p.Tyr333Ter) |
single nucleotide variant |
not provided [RCV001071737] |
Chr11:77158426 [GRCh38] Chr11:76869472 [GRCh37] Chr11:11q13.5 |
pathogenic |
NM_000260.4(MYO7A):c.3844G>C (p.Glu1282Gln) |
single nucleotide variant |
Usher syndrome type 1B [RCV001834008]|not provided [RCV001231771] |
Chr11:77190790 [GRCh38] Chr11:76901835 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.385G>T (p.Glu129Ter) |
single nucleotide variant |
not provided [RCV001035066] |
Chr11:77156006 [GRCh38] Chr11:76867052 [GRCh37] Chr11:11q13.5 |
pathogenic |
NM_000260.4(MYO7A):c.2116C>T (p.Gln706Ter) |
single nucleotide variant |
not provided [RCV001035569] |
Chr11:77175393 [GRCh38] Chr11:76886439 [GRCh37] Chr11:11q13.5 |
pathogenic |
NM_000260.4(MYO7A):c.99_100del (p.Gly34fs) |
deletion |
not provided [RCV001215769] |
Chr11:77142789..77142790 [GRCh38] Chr11:76853835..76853836 [GRCh37] Chr11:11q13.5 |
pathogenic |
NM_000260.4(MYO7A):c.4476C>T (p.Ala1492=) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 11 [RCV001114558]|Autosomal recessive nonsyndromic hearing loss 2 [RCV001114560]|Usher syndrome type 1 [RCV001114559]|not provided [RCV001499717] |
Chr11:77198529 [GRCh38] Chr11:76909574 [GRCh37] Chr11:11q13.5 |
likely benign|uncertain significance |
NM_000260.4(MYO7A):c.4852+798_5673del |
deletion |
not provided [RCV001044714] |
Chr11:77200615..77206132 [GRCh38] Chr11:76911660..76917177 [GRCh37] Chr11:11q13.5 |
likely pathogenic |
NM_000260.4(MYO7A):c.13C>T (p.Gln5Ter) |
single nucleotide variant |
not provided [RCV001204835] |
Chr11:77130647 [GRCh38] Chr11:76841693 [GRCh37] Chr11:11q13.5 |
pathogenic |
NM_000260.4(MYO7A):c.5589C>T (p.His1863=) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 11 [RCV001114995]|Autosomal recessive nonsyndromic hearing loss 2 [RCV001114996]|Usher syndrome type 1 [RCV001114997]|not provided [RCV002069850] |
Chr11:77205570 [GRCh38] Chr11:76916615 [GRCh37] Chr11:11q13.5 |
likely benign|uncertain significance |
NM_000260.4(MYO7A):c.6527G>A (p.Arg2176His) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 11 [RCV002484272]|Usher syndrome type 1B [RCV001828854]|not provided [RCV001232659] |
Chr11:77213948 [GRCh38] Chr11:76924993 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.1186G>A (p.Asp396Asn) |
single nucleotide variant |
Usher syndrome type 1B [RCV001827283]|not provided [RCV001045502] |
Chr11:77160268 [GRCh38] Chr11:76871314 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NC_000011.10:g.(?_77208430)_(77211937_?)del |
deletion |
not provided [RCV001032503] |
Chr11:76919475..76922982 [GRCh37] Chr11:11q13.5 |
pathogenic |
NM_000260.4(MYO7A):c.2680G>A (p.Glu894Lys) |
single nucleotide variant |
Usher syndrome type 1B [RCV001272507]|not provided [RCV001037676] |
Chr11:77180467 [GRCh38] Chr11:76891513 [GRCh37] Chr11:11q13.5 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_000260.4(MYO7A):c.4694C>T (p.Thr1565Met) |
single nucleotide variant |
Inborn genetic diseases [RCV002570379]|not provided [RCV001248414] |
Chr11:77199660 [GRCh38] Chr11:76910705 [GRCh37] Chr11:11q13.5 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_000260.4(MYO7A):c.4351G>T (p.Ala1451Ser) |
single nucleotide variant |
Usher syndrome type 1B [RCV001834019]|not provided [RCV001232719] |
Chr11:77197508 [GRCh38] Chr11:76908553 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.1979G>T (p.Gly660Val) |
single nucleotide variant |
Usher syndrome type 1B [RCV001835339]|not provided [RCV001248504] |
Chr11:77174799 [GRCh38] Chr11:76885845 [GRCh37] Chr11:11q13.5 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_000260.4(MYO7A):c.1354C>T (p.Leu452Phe) |
single nucleotide variant |
not provided [RCV001217003] |
Chr11:77162130 [GRCh38] Chr11:76873176 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.658C>T (p.His220Tyr) |
single nucleotide variant |
Usher syndrome type 1B [RCV001274692]|not provided [RCV001047124] |
Chr11:77156927 [GRCh38] Chr11:76867973 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.6412G>A (p.Val2138Ile) |
single nucleotide variant |
Usher syndrome type 1B [RCV001274810]|not provided [RCV001034761] |
Chr11:77213009 [GRCh38] Chr11:76924054 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.5001_5002del (p.Tyr1668fs) |
microsatellite |
Usher syndrome type 1 [RCV001029770] |
Chr11:77201592..77201593 [GRCh38] Chr11:76912637..76912638 [GRCh37] Chr11:11q13.5 |
likely pathogenic |
NM_000260.4(MYO7A):c.1798-7_1800delinsATCGGCTGCT |
indel |
Usher syndrome [RCV001195280]|Usher syndrome type 1 [RCV001587218]|not provided [RCV001243097] |
Chr11:77172741..77172750 [GRCh38] Chr11:76883787..76883796 [GRCh37] Chr11:11q13.5 |
pathogenic|likely pathogenic |
NM_000260.4(MYO7A):c.3568C>T (p.Arg1190Trp) |
single nucleotide variant |
Usher syndrome type 1B [RCV001827448]|not provided [RCV001068403] |
Chr11:77189408 [GRCh38] Chr11:76900453 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.4271C>G (p.Pro1424Arg) |
single nucleotide variant |
not provided [RCV001247297] |
Chr11:77194472 [GRCh38] Chr11:76905517 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.397del (p.His133fs) |
deletion |
not provided [RCV001036142] |
Chr11:77156012 [GRCh38] Chr11:76867058 [GRCh37] Chr11:11q13.5 |
pathogenic |
NM_000260.4(MYO7A):c.2467C>T (p.Arg823Cys) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 11 [RCV001578775]|Autosomal recessive nonsyndromic hearing loss 2 [RCV001578776]|Usher syndrome type 1 [RCV001578777]|Usher syndrome type 1B [RCV001833760]|not provided [RCV001876267]|not specified [RCV001195385] |
Chr11:77179834 [GRCh38] Chr11:76890880 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.2656G>A (p.Ala886Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV002561035]|Usher syndrome type 1B [RCV001279407]|not provided [RCV001419885]|not specified [RCV001195387] |
Chr11:77180443 [GRCh38] Chr11:76891489 [GRCh37] Chr11:11q13.5 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_000260.4(MYO7A):c.1852C>G (p.Leu618Val) |
single nucleotide variant |
Usher syndrome type 1B [RCV001828851]|not provided [RCV001232109] |
Chr11:77172802 [GRCh38] Chr11:76883848 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.4857C>T (p.Gly1619=) |
single nucleotide variant |
not provided [RCV001318526]|not specified [RCV001195575] |
Chr11:77201452 [GRCh38] Chr11:76912497 [GRCh37] Chr11:11q13.5 |
likely benign|uncertain significance |
NM_000260.4(MYO7A):c.1052C>A (p.Ser351Ter) |
single nucleotide variant |
Retinal dystrophy [RCV001073269] |
Chr11:77159495 [GRCh38] Chr11:76870541 [GRCh37] Chr11:11q13.5 |
likely pathogenic |
NM_000260.4(MYO7A):c.5122C>T (p.Arg1708Cys) |
single nucleotide variant |
Inborn genetic diseases [RCV003160234]|Usher syndrome type 1B [RCV001273507]|not provided [RCV001038153] |
Chr11:77202378 [GRCh38] Chr11:76913423 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.3375+12C>T |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 11 [RCV001114282]|Autosomal recessive nonsyndromic hearing loss 2 [RCV001114281]|Usher syndrome type 1 [RCV001114280]|not provided [RCV001417990] |
Chr11:77183169 [GRCh38] Chr11:76894214 [GRCh37] Chr11:11q13.5 |
likely benign|uncertain significance |
NM_000260.4(MYO7A):c.3688C>T (p.Arg1230Cys) |
single nucleotide variant |
Usher syndrome type 1B [RCV001271747]|not provided [RCV001038493] |
Chr11:77190077 [GRCh38] Chr11:76901122 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.1690+3A>G |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 11 [RCV002497784]|Usher syndrome type 1B [RCV001833998]|not provided [RCV001230821] |
Chr11:77162991 [GRCh38] Chr11:76874037 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.1623del (p.Lys542fs) |
deletion |
not provided [RCV001210764] |
Chr11:77162915 [GRCh38] Chr11:76873961 [GRCh37] Chr11:11q13.5 |
pathogenic |
NM_000260.4(MYO7A):c.4871T>C (p.Phe1624Ser) |
single nucleotide variant |
not provided [RCV001245728] |
Chr11:77201466 [GRCh38] Chr11:76912511 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.1058C>T (p.Ala353Val) |
single nucleotide variant |
Usher syndrome type 1B [RCV001828824]|not provided [RCV001228421] |
Chr11:77159501 [GRCh38] Chr11:76870547 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.4909_4914del (p.His1637_Asp1638del) |
deletion |
not provided [RCV001231234] |
Chr11:77201501..77201506 [GRCh38] Chr11:76912546..76912551 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.4569-2A>C |
single nucleotide variant |
not provided [RCV001210973] |
Chr11:77199533 [GRCh38] Chr11:76910578 [GRCh37] Chr11:11q13.5 |
likely pathogenic |
NM_000260.4(MYO7A):c.3055C>T (p.Arg1019Trp) |
single nucleotide variant |
Retinal dystrophy [RCV001075069] |
Chr11:77182101 [GRCh38] Chr11:76893147 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.1085_1086del (p.Asn362fs) |
deletion |
Usher syndrome type 1 [RCV001004378] |
Chr11:77160167..77160168 [GRCh38] Chr11:76871213..76871214 [GRCh37] Chr11:11q13.5 |
likely pathogenic |
NM_000260.4(MYO7A):c.3862G>C (p.Ala1288Pro) |
single nucleotide variant |
Nonsyndromic genetic hearing loss [RCV003117740]|Retinal dystrophy [RCV001075168]|Usher syndrome [RCV003387963]|Usher syndrome type 1 [RCV003227909]|not provided [RCV001339495] |
Chr11:77190808 [GRCh38] Chr11:76901853 [GRCh37] Chr11:11q13.5 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
NM_000260.4(MYO7A):c.1240A>G (p.Ile414Val) |
single nucleotide variant |
Retinal dystrophy [RCV001075260] |
Chr11:77161012 [GRCh38] Chr11:76872058 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.2288_2292delinsCA (p.Asn763_Phe764delinsThr) |
indel |
Retinal dystrophy [RCV001075460] |
Chr11:77179050..77179054 [GRCh38] Chr11:76890096..76890100 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.2302A>T (p.Lys768Ter) |
single nucleotide variant |
Retinal dystrophy [RCV001075461] |
Chr11:77179064 [GRCh38] Chr11:76890110 [GRCh37] Chr11:11q13.5 |
likely pathogenic |
NM_000260.4(MYO7A):c.133-1G>T |
single nucleotide variant |
not provided [RCV001215630] |
Chr11:77147797 [GRCh38] Chr11:76858843 [GRCh37] Chr11:11q13.5 |
pathogenic|likely pathogenic |
NM_000260.4(MYO7A):c.3424A>G (p.Met1142Val) |
single nucleotide variant |
not provided [RCV001204323] |
Chr11:77184636 [GRCh38] Chr11:76895681 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.5029C>T (p.Pro1677Ser) |
single nucleotide variant |
Usher syndrome type 1B [RCV001272802]|not provided [RCV001034173]|not specified [RCV003117713] |
Chr11:77201624 [GRCh38] Chr11:76912669 [GRCh37] Chr11:11q13.5 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_000260.4(MYO7A):c.2761C>T (p.Arg921Trp) |
single nucleotide variant |
Usher syndrome type 1B [RCV001833647]|not provided [RCV001066568] |
Chr11:77181446 [GRCh38] Chr11:76892492 [GRCh37] Chr11:11q13.5 |
likely benign|uncertain significance |
NM_000260.4(MYO7A):c.4261G>A (p.Glu1421Lys) |
single nucleotide variant |
Usher syndrome type 1B [RCV001829981]|not provided [RCV001246205] |
Chr11:77194462 [GRCh38] Chr11:76905507 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.2473C>T (p.Arg825Cys) |
single nucleotide variant |
not provided [RCV001246084] |
Chr11:77179840 [GRCh38] Chr11:76890886 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.2684G>A (p.Arg895His) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 11 [RCV001253661]|not provided [RCV002570536] |
Chr11:77180471 [GRCh38] Chr11:76891517 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.3503+28G>T |
single nucleotide variant |
not specified [RCV001261570] |
Chr11:77184743 [GRCh38] Chr11:76895788 [GRCh37] Chr11:11q13.5 |
benign |
NM_000260.4(MYO7A):c.5481-236T>C |
single nucleotide variant |
not provided [RCV001580899] |
Chr11:77205226 [GRCh38] Chr11:76916271 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.3802_3805del (p.Thr1268fs) |
deletion |
Autosomal recessive nonsyndromic hearing loss 2 [RCV001334334] |
Chr11:77190748..77190751 [GRCh38] Chr11:76901793..76901796 [GRCh37] Chr11:11q13.5 |
likely pathogenic |
NM_000260.4(MYO7A):c.2003G>T (p.Arg668Leu) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 11 [RCV001262911] |
Chr11:77174823 [GRCh38] Chr11:76885869 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.1797+7C>T |
single nucleotide variant |
Usher syndrome type 1B [RCV001278616]|not provided [RCV001426180] |
Chr11:77166169 [GRCh38] Chr11:76877215 [GRCh37] Chr11:11q13.5 |
likely benign|uncertain significance |
NM_000260.4(MYO7A):c.285+301T>C |
single nucleotide variant |
not provided [RCV001565022] |
Chr11:77148251 [GRCh38] Chr11:76859297 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.109C>T (p.Gln37Ter) |
single nucleotide variant |
Usher syndrome type 1 [RCV001263712]|not provided [RCV001880066] |
Chr11:77142799 [GRCh38] Chr11:76853845 [GRCh37] Chr11:11q13.5 |
pathogenic|likely pathogenic |
NM_000260.4(MYO7A):c.517C>T (p.Gln173Ter) |
single nucleotide variant |
Usher syndrome type 1 [RCV001263713]|not provided [RCV001880067] |
Chr11:77156706 [GRCh38] Chr11:76867752 [GRCh37] Chr11:11q13.5 |
pathogenic|likely pathogenic |
NM_000260.4(MYO7A):c.712G>T (p.Glu238Ter) |
single nucleotide variant |
Usher syndrome type 1 [RCV001263714] |
Chr11:77156981 [GRCh38] Chr11:76868027 [GRCh37] Chr11:11q13.5 |
likely pathogenic |
NM_000260.4(MYO7A):c.778G>T (p.Glu260Ter) |
single nucleotide variant |
Usher syndrome type 1 [RCV001263715] |
Chr11:77157321 [GRCh38] Chr11:76868367 [GRCh37] Chr11:11q13.5 |
likely pathogenic |
NM_000260.4(MYO7A):c.842T>A (p.Leu281Ter) |
single nucleotide variant |
Usher syndrome type 1 [RCV001263716] |
Chr11:77157385 [GRCh38] Chr11:76868431 [GRCh37] Chr11:11q13.5 |
likely pathogenic |
NM_000260.4(MYO7A):c.956C>A (p.Ser319Ter) |
single nucleotide variant |
Usher syndrome type 1 [RCV001263718] |
Chr11:77158383 [GRCh38] Chr11:76869429 [GRCh37] Chr11:11q13.5 |
likely pathogenic |
NM_000260.4(MYO7A):c.4153G>T (p.Glu1385Ter) |
single nucleotide variant |
Usher syndrome type 1 [RCV001263735] |
Chr11:77194354 [GRCh38] Chr11:76905399 [GRCh37] Chr11:11q13.5 |
likely pathogenic |
NM_000260.4(MYO7A):c.4219G>T (p.Glu1407Ter) |
single nucleotide variant |
Usher syndrome type 1 [RCV001263736] |
Chr11:77194420 [GRCh38] Chr11:76905465 [GRCh37] Chr11:11q13.5 |
likely pathogenic |
NM_000260.4(MYO7A):c.4321A>T (p.Lys1441Ter) |
single nucleotide variant |
Usher syndrome type 1 [RCV001263737] |
Chr11:77194522 [GRCh38] Chr11:76905567 [GRCh37] Chr11:11q13.5 |
likely pathogenic |
NM_000260.4(MYO7A):c.4423G>T (p.Glu1475Ter) |
single nucleotide variant |
Usher syndrome type 1 [RCV001263738] |
Chr11:77197580 [GRCh38] Chr11:76908625 [GRCh37] Chr11:11q13.5 |
likely pathogenic |
NM_000260.4(MYO7A):c.4432A>T (p.Lys1478Ter) |
single nucleotide variant |
Usher syndrome type 1 [RCV001263739] |
Chr11:77197589 [GRCh38] Chr11:76908634 [GRCh37] Chr11:11q13.5 |
likely pathogenic |
NM_000260.4(MYO7A):c.4507G>T (p.Glu1503Ter) |
single nucleotide variant |
Usher syndrome type 1 [RCV001263740] |
Chr11:77198560 [GRCh38] Chr11:76909605 [GRCh37] Chr11:11q13.5 |
likely pathogenic |
NM_000260.4(MYO7A):c.4762G>T (p.Glu1588Ter) |
single nucleotide variant |
Usher syndrome type 1 [RCV001263741] |
Chr11:77199728 [GRCh38] Chr11:76910773 [GRCh37] Chr11:11q13.5 |
likely pathogenic |
NM_000260.4(MYO7A):c.5209A>T (p.Lys1737Ter) |
single nucleotide variant |
Usher syndrome type 1 [RCV001263742] |
Chr11:77203100 [GRCh38] Chr11:76914145 [GRCh37] Chr11:11q13.5 |
likely pathogenic |
NM_000260.4(MYO7A):c.1351C>T (p.Gln451Ter) |
single nucleotide variant |
Usher syndrome type 1 [RCV001263799] |
Chr11:77162127 [GRCh38] Chr11:76873173 [GRCh37] Chr11:11q13.5 |
likely pathogenic |
NM_000260.4(MYO7A):c.1423G>T (p.Glu475Ter) |
single nucleotide variant |
Usher syndrome type 1 [RCV001263800] |
Chr11:77162199 [GRCh38] Chr11:76873245 [GRCh37] Chr11:11q13.5 |
likely pathogenic |
NM_000260.4(MYO7A):c.1843A>T (p.Lys615Ter) |
single nucleotide variant |
Usher syndrome type 1 [RCV001263801] |
Chr11:77172793 [GRCh38] Chr11:76883839 [GRCh37] Chr11:11q13.5 |
likely pathogenic |
NM_000260.4(MYO7A):c.1885C>T (p.Gln629Ter) |
single nucleotide variant |
Usher syndrome type 1 [RCV001263802]|not provided [RCV001880069] |
Chr11:77172835 [GRCh38] Chr11:76883881 [GRCh37] Chr11:11q13.5 |
pathogenic|likely pathogenic |
NM_000260.4(MYO7A):c.1905C>A (p.Cys635Ter) |
single nucleotide variant |
Usher syndrome type 1 [RCV001263803] |
Chr11:77172855 [GRCh38] Chr11:76883901 [GRCh37] Chr11:11q13.5 |
likely pathogenic |
NM_000260.4(MYO7A):c.1974C>A (p.Tyr658Ter) |
single nucleotide variant |
Usher syndrome type 1 [RCV001263804] |
Chr11:77174794 [GRCh38] Chr11:76885840 [GRCh37] Chr11:11q13.5 |
likely pathogenic |
NM_000260.4(MYO7A):c.2157G>A (p.Trp719Ter) |
single nucleotide variant |
Usher syndrome type 1 [RCV001263805]|not provided [RCV002541613] |
Chr11:77175434 [GRCh38] Chr11:76886480 [GRCh37] Chr11:11q13.5 |
pathogenic|likely pathogenic |
NM_000260.4(MYO7A):c.2392C>T (p.Gln798Ter) |
single nucleotide variant |
Usher syndrome type 1 [RCV001263806] |
Chr11:77179759 [GRCh38] Chr11:76890805 [GRCh37] Chr11:11q13.5 |
likely pathogenic |
NM_000260.4(MYO7A):c.5442T>A (p.Tyr1814Ter) |
single nucleotide variant |
Usher syndrome type 1 [RCV001263821] |
Chr11:77204191 [GRCh38] Chr11:76915236 [GRCh37] Chr11:11q13.5 |
likely pathogenic |
NM_000260.4(MYO7A):c.5488G>T (p.Glu1830Ter) |
single nucleotide variant |
Usher syndrome type 1 [RCV001263822] |
Chr11:77205469 [GRCh38] Chr11:76916514 [GRCh37] Chr11:11q13.5 |
likely pathogenic |
NM_000260.4(MYO7A):c.5655C>A (p.Tyr1885Ter) |
single nucleotide variant |
Usher syndrome type 1 [RCV001263824] |
Chr11:77206115 [GRCh38] Chr11:76917160 [GRCh37] Chr11:11q13.5 |
likely pathogenic |
NM_000260.4(MYO7A):c.5701C>T (p.Gln1901Ter) |
single nucleotide variant |
Usher syndrome type 1 [RCV001263825] |
Chr11:77206161 [GRCh38] Chr11:76917206 [GRCh37] Chr11:11q13.5 |
likely pathogenic |
NM_000260.4(MYO7A):c.5842A>T (p.Lys1948Ter) |
single nucleotide variant |
Usher syndrome type 1 [RCV001263826] |
Chr11:77207388 [GRCh38] Chr11:76918433 [GRCh37] Chr11:11q13.5 |
likely pathogenic |
NM_000260.4(MYO7A):c.6013A>T (p.Lys2005Ter) |
single nucleotide variant |
Usher syndrome type 1 [RCV001263828] |
Chr11:77208765 [GRCh38] Chr11:76919810 [GRCh37] Chr11:11q13.5 |
likely pathogenic |
NM_000260.4(MYO7A):c.5610C>A (p.Cys1870Ter) |
single nucleotide variant |
Usher syndrome type 1 [RCV001263823] |
Chr11:77205591 [GRCh38] Chr11:76916636 [GRCh37] Chr11:11q13.5 |
likely pathogenic |
NM_000260.4(MYO7A):c.2782C>T (p.Gln928Ter) |
single nucleotide variant |
Usher syndrome type 1 [RCV001264304] |
Chr11:77181467 [GRCh38] Chr11:76892513 [GRCh37] Chr11:11q13.5 |
likely pathogenic |
NM_000260.4(MYO7A):c.6106C>T (p.Gln2036Ter) |
single nucleotide variant |
Usher syndrome type 1 [RCV001263994]|not provided [RCV002537664] |
Chr11:77211206 [GRCh38] Chr11:76922251 [GRCh37] Chr11:11q13.5 |
pathogenic|likely pathogenic |
NM_000260.4(MYO7A):c.6184G>T (p.Glu2062Ter) |
single nucleotide variant |
Usher syndrome type 1 [RCV001263995]|not provided [RCV001387385] |
Chr11:77211284 [GRCh38] Chr11:76922329 [GRCh37] Chr11:11q13.5 |
pathogenic|likely pathogenic |
NM_000260.4(MYO7A):c.6231G>A (p.Trp2077Ter) |
single nucleotide variant |
Usher syndrome type 1 [RCV001263996] |
Chr11:77211331 [GRCh38] Chr11:76922376 [GRCh37] Chr11:11q13.5 |
likely pathogenic |
NM_000260.4(MYO7A):c.6252C>A (p.Tyr2084Ter) |
single nucleotide variant |
Usher syndrome type 1 [RCV001263998] |
Chr11:77211835 [GRCh38] Chr11:76922880 [GRCh37] Chr11:11q13.5 |
likely pathogenic |
NM_000260.4(MYO7A):c.858C>A (p.Cys286Ter) |
single nucleotide variant |
Usher syndrome type 1 [RCV001263717] |
Chr11:77158285 [GRCh38] Chr11:76869331 [GRCh37] Chr11:11q13.5 |
likely pathogenic |
NM_000260.4(MYO7A):c.5967C>A (p.Tyr1989Ter) |
single nucleotide variant |
Usher syndrome type 1 [RCV001263827]|not provided [RCV001880070] |
Chr11:77208719 [GRCh38] Chr11:76919764 [GRCh37] Chr11:11q13.5 |
pathogenic|likely pathogenic |
NM_000260.4(MYO7A):c.6252C>G (p.Tyr2084Ter) |
single nucleotide variant |
Usher syndrome type 1 [RCV001263997] |
Chr11:77211835 [GRCh38] Chr11:76922880 [GRCh37] Chr11:11q13.5 |
likely pathogenic |
NM_000260.4(MYO7A):c.32G>A (p.Trp11Ter) |
single nucleotide variant |
Usher syndrome type 1 [RCV001264284] |
Chr11:77142722 [GRCh38] Chr11:76853768 [GRCh37] Chr11:11q13.5 |
likely pathogenic |
NM_000260.4(MYO7A):c.33G>A (p.Trp11Ter) |
single nucleotide variant |
Usher syndrome type 1 [RCV001264285] |
Chr11:77142723 [GRCh38] Chr11:76853769 [GRCh37] Chr11:11q13.5 |
likely pathogenic |
NM_000260.4(MYO7A):c.103C>T (p.Gln35Ter) |
single nucleotide variant |
Usher syndrome type 1 [RCV001264286] |
Chr11:77142793 [GRCh38] Chr11:76853839 [GRCh37] Chr11:11q13.5 |
likely pathogenic |
NM_000260.4(MYO7A):c.2455C>T (p.Gln819Ter) |
single nucleotide variant |
Usher syndrome type 1 [RCV001264302] |
Chr11:77179822 [GRCh38] Chr11:76890868 [GRCh37] Chr11:11q13.5 |
likely pathogenic |
NM_000260.4(MYO7A):c.2472C>A (p.Cys824Ter) |
single nucleotide variant |
Usher syndrome type 1 [RCV001264303] |
Chr11:77179839 [GRCh38] Chr11:76890885 [GRCh37] Chr11:11q13.5 |
likely pathogenic |
NM_000260.4(MYO7A):c.2819C>A (p.Ser940Ter) |
single nucleotide variant |
Usher syndrome type 1 [RCV001264305] |
Chr11:77181504 [GRCh38] Chr11:76892550 [GRCh37] Chr11:11q13.5 |
likely pathogenic |
NM_000260.4(MYO7A):c.3084C>A (p.Tyr1028Ter) |
single nucleotide variant |
Usher syndrome type 1 [RCV001264306] |
Chr11:77182130 [GRCh38] Chr11:76893176 [GRCh37] Chr11:11q13.5 |
likely pathogenic |
NM_000260.4(MYO7A):c.3271C>T (p.Gln1091Ter) |
single nucleotide variant |
Usher syndrome type 1 [RCV001264307] |
Chr11:77182586 [GRCh38] Chr11:76893631 [GRCh37] Chr11:11q13.5 |
likely pathogenic |
NM_000260.4(MYO7A):c.3982C>T (p.Gln1328Ter) |
single nucleotide variant |
Usher syndrome type 1 [RCV001264308] |
Chr11:77192108 [GRCh38] Chr11:76903153 [GRCh37] Chr11:11q13.5 |
likely pathogenic |
NM_000260.4(MYO7A):c.4126A>T (p.Lys1376Ter) |
single nucleotide variant |
Usher syndrome type 1 [RCV001264309] |
Chr11:77192252 [GRCh38] Chr11:76903297 [GRCh37] Chr11:11q13.5 |
likely pathogenic |
NM_000260.4(MYO7A):c.3503+32T>G |
single nucleotide variant |
not specified [RCV001261571] |
Chr11:77184747 [GRCh38] Chr11:76895792 [GRCh37] Chr11:11q13.5 |
benign |
NM_000260.4(MYO7A):c.202_285+34del |
deletion |
not provided [RCV001268708] |
Chr11:77147867..77147984 [GRCh38] Chr11:76858913..76859030 [GRCh37] Chr11:11q13.5 |
likely pathogenic |
NM_000260.4(MYO7A):c.3109-16_3109-15insTGCGCTCTGGCCTCTGACATGCGCGCTCTGGCCTCTGACATG |
insertion |
Usher syndrome type 1B [RCV001832790]|not provided [RCV001575501] |
Chr11:77182389..77182390 [GRCh38] Chr11:76893434..76893435 [GRCh37] Chr11:11q13.5 |
benign|likely benign |
NM_000260.4(MYO7A):c.6381G>A (p.Glu2127=) |
single nucleotide variant |
Usher syndrome type 1B [RCV001277339] |
Chr11:77212978 [GRCh38] Chr11:76924023 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.690G>A (p.Ala230=) |
single nucleotide variant |
not provided [RCV001402040] |
Chr11:77156959 [GRCh38] Chr11:76868005 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.5856+275C>T |
single nucleotide variant |
not provided [RCV001549478] |
Chr11:77207677 [GRCh38] Chr11:76918722 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.2468G>A (p.Arg823His) |
single nucleotide variant |
Usher syndrome type 1B [RCV001279404]|not provided [RCV002537847] |
Chr11:77179835 [GRCh38] Chr11:76890881 [GRCh37] Chr11:11q13.5 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_000260.4(MYO7A):c.2649G>A (p.Glu883=) |
single nucleotide variant |
Usher syndrome type 1B [RCV001279406] |
Chr11:77180436 [GRCh38] Chr11:76891482 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.3503+10_3503+32delinsA |
indel |
not provided [RCV001288313] |
Chr11:77184725..77184747 [GRCh38] Chr11:76895770..76895792 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.6406T>C (p.Tyr2136His) |
single nucleotide variant |
not provided [RCV001304793] |
Chr11:77213003 [GRCh38] Chr11:76924048 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.4130T>C (p.Phe1377Ser) |
single nucleotide variant |
Usher syndrome type 1B [RCV001830321]|not provided [RCV001318788] |
Chr11:77192256 [GRCh38] Chr11:76903301 [GRCh37] Chr11:11q13.5 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_000260.4(MYO7A):c.2553C>G (p.Ile851Met) |
single nucleotide variant |
Usher syndrome type 1B [RCV001836279]|not provided [RCV001308134] |
Chr11:77179920 [GRCh38] Chr11:76890966 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.5730T>A (p.Asp1910Glu) |
single nucleotide variant |
not provided [RCV001341869] |
Chr11:77206190 [GRCh38] Chr11:76917235 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.3779T>C (p.Leu1260Ser) |
single nucleotide variant |
not provided [RCV001307030] |
Chr11:77190725 [GRCh38] Chr11:76901770 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.4379G>C (p.Ser1460Thr) |
single nucleotide variant |
Usher syndrome type 1B [RCV001825972]|not provided [RCV001351378] |
Chr11:77197536 [GRCh38] Chr11:76908581 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.1847G>A (p.Arg616Gln) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 2 [RCV001329737]|not provided [RCV002546349] |
Chr11:77172797 [GRCh38] Chr11:76883843 [GRCh37] Chr11:11q13.5 |
likely benign|uncertain significance |
NM_000260.4(MYO7A):c.655A>G (p.Ile219Val) |
single nucleotide variant |
not provided [RCV001350970] |
Chr11:77156924 [GRCh38] Chr11:76867970 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.2427G>C (p.Gln809His) |
single nucleotide variant |
not provided [RCV001305924] |
Chr11:77179794 [GRCh38] Chr11:76890840 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.3509A>G (p.Glu1170Gly) |
single nucleotide variant |
MYO7A-related condition [RCV003416212]|Usher syndrome type 1 [RCV003155394]|Usher syndrome type 1B [RCV001831011]|not provided [RCV001325860] |
Chr11:77189349 [GRCh38] Chr11:76900394 [GRCh37] Chr11:11q13.5 |
likely pathogenic|uncertain significance |
NM_000260.4(MYO7A):c.2365C>T (p.Leu789=) |
single nucleotide variant |
not provided [RCV001327647] |
Chr11:77179127 [GRCh38] Chr11:76890173 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.4522C>G (p.Leu1508Val) |
single nucleotide variant |
not provided [RCV001351165] |
Chr11:77198575 [GRCh38] Chr11:76909620 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.5138C>T (p.Thr1713Met) |
single nucleotide variant |
Inborn genetic diseases [RCV002543676]|Usher syndrome type 1B [RCV001835562]|not provided [RCV001315665] |
Chr11:77202394 [GRCh38] Chr11:76913439 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.1723G>A (p.Gly575Arg) |
single nucleotide variant |
Usher syndrome type 1B [RCV001830416]|not provided [RCV001339937] |
Chr11:77166088 [GRCh38] Chr11:76877134 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.6516G>T (p.Gly2172=) |
single nucleotide variant |
not provided [RCV001349698] |
Chr11:77213937 [GRCh38] Chr11:76924982 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.3899C>G (p.Ser1300Cys) |
single nucleotide variant |
not provided [RCV001321513] |
Chr11:77190845 [GRCh38] Chr11:76901890 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.4243A>G (p.Thr1415Ala) |
single nucleotide variant |
Usher syndrome type 1B [RCV001830363]|not provided [RCV001324854] |
Chr11:77194444 [GRCh38] Chr11:76905489 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.6044A>G (p.Tyr2015Cys) |
single nucleotide variant |
Usher syndrome type 1 [RCV001807977] |
Chr11:77208796 [GRCh38] Chr11:76919841 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.6355C>A (p.Gln2119Lys) |
single nucleotide variant |
Childhood onset hearing loss [RCV001328029] |
Chr11:77212952 [GRCh38] Chr11:76923997 [GRCh37] Chr11:11q13.5 |
likely pathogenic|uncertain significance |
NM_000260.4(MYO7A):c.857G>A (p.Cys286Tyr) |
single nucleotide variant |
not provided [RCV001340565] |
Chr11:77158284 [GRCh38] Chr11:76869330 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.6091C>T (p.Arg2031Trp) |
single nucleotide variant |
Usher syndrome type 1B [RCV001825897]|not provided [RCV001343868] |
Chr11:77211191 [GRCh38] Chr11:76922236 [GRCh37] Chr11:11q13.5 |
likely benign|uncertain significance |
NM_000260.4(MYO7A):c.2755G>T (p.Ala919Ser) |
single nucleotide variant |
not provided [RCV001300775] |
Chr11:77181440 [GRCh38] Chr11:76892486 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.166A>T (p.Ile56Phe) |
single nucleotide variant |
not provided [RCV001326447] |
Chr11:77147831 [GRCh38] Chr11:76858877 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.1798-4C>A |
single nucleotide variant |
not provided [RCV001392347] |
Chr11:77172744 [GRCh38] Chr11:76883790 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.6051+7A>C |
single nucleotide variant |
not provided [RCV001422739] |
Chr11:77208810 [GRCh38] Chr11:76919855 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.1155A>G (p.Pro385=) |
single nucleotide variant |
not provided [RCV001397343] |
Chr11:77160237 [GRCh38] Chr11:76871283 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.2670G>A (p.Lys890=) |
single nucleotide variant |
not provided [RCV001392807] |
Chr11:77180457 [GRCh38] Chr11:76891503 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.4491T>A (p.Gly1497=) |
single nucleotide variant |
not provided [RCV001397669] |
Chr11:77198544 [GRCh38] Chr11:76909589 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.1165G>A (p.Glu389Lys) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 2 [RCV001580591]|Usher syndrome type 1 [RCV001580592]|not provided [RCV001315824] |
Chr11:77160247 [GRCh38] Chr11:76871293 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.2746A>G (p.Lys916Glu) |
single nucleotide variant |
Usher syndrome type 1B [RCV001831218]|not provided [RCV001361358] |
Chr11:77181431 [GRCh38] Chr11:76892477 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.5623C>T (p.Gln1875Ter) |
single nucleotide variant |
not provided [RCV001382378] |
Chr11:77205604 [GRCh38] Chr11:76916649 [GRCh37] Chr11:11q13.5 |
pathogenic |
NM_000260.4(MYO7A):c.3732C>T (p.Pro1244=) |
single nucleotide variant |
not provided [RCV001392539] |
Chr11:77190121 [GRCh38] Chr11:76901166 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.6468G>A (p.Lys2156=) |
single nucleotide variant |
not provided [RCV001394715] |
Chr11:77213889 [GRCh38] Chr11:76924934 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.3992A>G (p.Lys1331Arg) |
single nucleotide variant |
Hearing impairment [RCV001375196] |
Chr11:77192118 [GRCh38] Chr11:76903163 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.3151G>C (p.Asp1051His) |
single nucleotide variant |
not provided [RCV001372653] |
Chr11:77182466 [GRCh38] Chr11:76893511 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.2149G>A (p.Asp717Asn) |
single nucleotide variant |
not provided [RCV001412764] |
Chr11:77175426 [GRCh38] Chr11:76886472 [GRCh37] Chr11:11q13.5 |
likely benign|conflicting interpretations of pathogenicity |
NM_000260.4(MYO7A):c.2247C>T (p.Ile749=) |
single nucleotide variant |
not provided [RCV001422587] |
Chr11:77177608 [GRCh38] Chr11:76888654 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.3956T>C (p.Val1319Ala) |
single nucleotide variant |
Usher syndrome type 1B [RCV001831221]|not provided [RCV001361765] |
Chr11:77192082 [GRCh38] Chr11:76903127 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.3381C>T (p.Thr1127=) |
single nucleotide variant |
not provided [RCV001412815] |
Chr11:77184593 [GRCh38] Chr11:76895638 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.372C>T (p.Asn124=) |
single nucleotide variant |
not provided [RCV001391972] |
Chr11:77155993 [GRCh38] Chr11:76867039 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.6117G>A (p.Ala2039=) |
single nucleotide variant |
not provided [RCV001422129] |
Chr11:77211217 [GRCh38] Chr11:76922262 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.5823G>A (p.Glu1941=) |
single nucleotide variant |
not provided [RCV001396932] |
Chr11:77207369 [GRCh38] Chr11:76918414 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.2083G>A (p.Ala695Thr) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 2 [RCV001329738]|not provided [RCV003132422] |
Chr11:77174903 [GRCh38] Chr11:76885949 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.5123G>A (p.Arg1708His) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 2 [RCV001329742]|not provided [RCV002462937] |
Chr11:77202379 [GRCh38] Chr11:76913424 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.6319T>C (p.Trp2107Arg) |
single nucleotide variant |
not provided [RCV001369538] |
Chr11:77211902 [GRCh38] Chr11:76922947 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.6048C>T (p.Tyr2016=) |
single nucleotide variant |
Usher syndrome type 1B [RCV001277334]|not provided [RCV002537745] |
Chr11:77208800 [GRCh38] Chr11:76919845 [GRCh37] Chr11:11q13.5 |
likely benign|uncertain significance |
NM_000260.4(MYO7A):c.6352A>G (p.Lys2118Glu) |
single nucleotide variant |
Usher syndrome type 1B [RCV001277338] |
Chr11:77211935 [GRCh38] Chr11:76922980 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.6431A>G (p.Lys2144Arg) |
single nucleotide variant |
Usher syndrome type 1B [RCV001277341] |
Chr11:77213028 [GRCh38] Chr11:76924073 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.2460C>T (p.Phe820=) |
single nucleotide variant |
not provided [RCV001396802] |
Chr11:77179827 [GRCh38] Chr11:76890873 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.968C>G (p.Ala323Gly) |
single nucleotide variant |
Usher syndrome type 1B [RCV001278609] |
Chr11:77158395 [GRCh38] Chr11:76869441 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.1635T>C (p.His545=) |
single nucleotide variant |
Usher syndrome type 1B [RCV001278614]|not provided [RCV001437223] |
Chr11:77162933 [GRCh38] Chr11:76873979 [GRCh37] Chr11:11q13.5 |
likely benign|uncertain significance |
NM_000260.4(MYO7A):c.152A>C (p.Gln51Pro) |
single nucleotide variant |
Hearing impairment [RCV001375135] |
Chr11:77147817 [GRCh38] Chr11:76858863 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.1792G>A (p.Ala598Thr) |
single nucleotide variant |
Hearing impairment [RCV001375267]|Inborn genetic diseases [RCV002550212]|not provided [RCV002550213] |
Chr11:77166157 [GRCh38] Chr11:76877203 [GRCh37] Chr11:11q13.5 |
likely pathogenic|uncertain significance |
NM_000260.4(MYO7A):c.1021C>G (p.Leu341Val) |
single nucleotide variant |
Hearing impairment [RCV001375394] |
Chr11:77159464 [GRCh38] Chr11:76870510 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.5088G>A (p.Arg1696=) |
single nucleotide variant |
not provided [RCV001415005] |
Chr11:77202344 [GRCh38] Chr11:76913389 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.2420A>C (p.His807Pro) |
single nucleotide variant |
Inborn genetic diseases [RCV002537845]|Usher syndrome type 1B [RCV001279402]|not provided [RCV002537846] |
Chr11:77179787 [GRCh38] Chr11:76890833 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.2662A>G (p.Lys888Glu) |
single nucleotide variant |
Usher syndrome type 1B [RCV001279408]|not specified [RCV003331097] |
Chr11:77180449 [GRCh38] Chr11:76891495 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.2703G>A (p.Leu901=) |
single nucleotide variant |
Usher syndrome type 1B [RCV001279409]|not provided [RCV001457105] |
Chr11:77181388 [GRCh38] Chr11:76892434 [GRCh37] Chr11:11q13.5 |
likely benign|uncertain significance |
NM_000260.4(MYO7A):c.3615C>T (p.Ser1205=) |
single nucleotide variant |
Usher syndrome type 1B [RCV001279792]|not provided [RCV001444671] |
Chr11:77189455 [GRCh38] Chr11:76900500 [GRCh37] Chr11:11q13.5 |
likely benign|uncertain significance |
NM_000260.4(MYO7A):c.5087G>A (p.Arg1696Gln) |
single nucleotide variant |
Inborn genetic diseases [RCV002542934]|Usher syndrome type 1B [RCV001279809]|not provided [RCV001303071] |
Chr11:77202343 [GRCh38] Chr11:76913388 [GRCh37] Chr11:11q13.5 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_000260.4(MYO7A):c.2586+9G>A |
single nucleotide variant |
not provided [RCV001423027] |
Chr11:77179962 [GRCh38] Chr11:76891008 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.6348_6352dup (p.Lys2118delinsArgTer) |
duplication |
not provided [RCV001383130] |
Chr11:77211928..77211929 [GRCh38] Chr11:76922973..76922974 [GRCh37] Chr11:11q13.5 |
pathogenic |
NM_000260.4(MYO7A):c.3504-9C>T |
single nucleotide variant |
not provided [RCV001422778] |
Chr11:77189335 [GRCh38] Chr11:76900380 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.5786A>G (p.Gln1929Arg) |
single nucleotide variant |
Hearing impairment [RCV001375361] |
Chr11:77207332 [GRCh38] Chr11:76918377 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.3958A>G (p.Met1320Val) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 11 [RCV002493910]|Hearing impairment [RCV001375392] |
Chr11:77192084 [GRCh38] Chr11:76903129 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.1144G>T (p.Val382Leu) |
single nucleotide variant |
Hearing impairment [RCV001375395] |
Chr11:77160226 [GRCh38] Chr11:76871272 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.1326G>A (p.Glu442=) |
single nucleotide variant |
not provided [RCV001433898] |
Chr11:77161098 [GRCh38] Chr11:76872144 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.2823C>T (p.Asp941=) |
single nucleotide variant |
not provided [RCV001391899] |
Chr11:77181508 [GRCh38] Chr11:76892554 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.294G>A (p.Thr98=) |
single nucleotide variant |
not provided [RCV001413782] |
Chr11:77155915 [GRCh38] Chr11:76866961 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.6421A>G (p.Ile2141Val) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 11 [RCV001334340]|Usher syndrome type 1B [RCV001831038]|not provided [RCV001373989] |
Chr11:77213018 [GRCh38] Chr11:76924063 [GRCh37] Chr11:11q13.5 |
likely benign|uncertain significance |
NM_000260.4(MYO7A):c.659A>G (p.His220Arg) |
single nucleotide variant |
not provided [RCV001356190] |
Chr11:77156928 [GRCh38] Chr11:76867974 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.2480A>G (p.Tyr827Cys) |
single nucleotide variant |
Usher syndrome type 1B [RCV001835465]|not provided [RCV001303844] |
Chr11:77179847 [GRCh38] Chr11:76890893 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.2431C>T (p.Arg811Cys) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 11 [RCV002499727]|Usher syndrome type 1B [RCV001825999]|not provided [RCV001360225] |
Chr11:77179798 [GRCh38] Chr11:76890844 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.4075G>A (p.Glu1359Lys) |
single nucleotide variant |
Usher syndrome type 1B [RCV001831200]|not provided [RCV001360329] |
Chr11:77192201 [GRCh38] Chr11:76903246 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.3829G>A (p.Ala1277Thr) |
single nucleotide variant |
Usher syndrome type 1B [RCV001831325]|not provided [RCV001373414] |
Chr11:77190775 [GRCh38] Chr11:76901820 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.1941C>T (p.Phe647=) |
single nucleotide variant |
not provided [RCV001433299] |
Chr11:77174761 [GRCh38] Chr11:76885807 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.354C>T (p.His118=) |
single nucleotide variant |
not provided [RCV001414633] |
Chr11:77155975 [GRCh38] Chr11:76867021 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.849G>A (p.Met283Ile) |
single nucleotide variant |
not provided [RCV001360433] |
Chr11:77157392 [GRCh38] Chr11:76868438 [GRCh37] Chr11:11q13.5 |
likely pathogenic|uncertain significance |
NM_000260.4(MYO7A):c.5300C>A (p.Ser1767Ter) |
single nucleotide variant |
not provided [RCV001382582] |
Chr11:77203191 [GRCh38] Chr11:76914236 [GRCh37] Chr11:11q13.5 |
pathogenic |
NM_000260.4(MYO7A):c.2905-163_2905-162insG |
insertion |
not provided [RCV001538462] |
Chr11:77181788..77181789 [GRCh38] Chr11:76892834..76892835 [GRCh37] Chr11:11q13.5 |
benign |
NM_000260.4(MYO7A):c.1128C>T (p.Ile376=) |
single nucleotide variant |
not provided [RCV001414655] |
Chr11:77160210 [GRCh38] Chr11:76871256 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.5007C>T (p.Val1669=) |
single nucleotide variant |
not provided [RCV001396880] |
Chr11:77201602 [GRCh38] Chr11:76912647 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.1069T>C (p.Ser357Pro) |
single nucleotide variant |
Usher syndrome type 1B [RCV001836348]|not provided [RCV001349449] |
Chr11:77159512 [GRCh38] Chr11:76870558 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.358C>T (p.Arg120Cys) |
single nucleotide variant |
Usher syndrome type 1B [RCV001825960]|not provided [RCV001350134] |
Chr11:77155979 [GRCh38] Chr11:76867025 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.1343+297G>T |
single nucleotide variant |
not provided [RCV001581349] |
Chr11:77161412 [GRCh38] Chr11:76872458 [GRCh37] Chr11:11q13.5 |
likely benign |
NC_000011.10:g.77158278del |
deletion |
not provided [RCV001382611] |
Chr11:77158276 [GRCh38] Chr11:76869322 [GRCh37] Chr11:11q13.5 |
pathogenic |
NM_000260.4(MYO7A):c.2628G>A (p.Glu876=) |
single nucleotide variant |
not provided [RCV001415406] |
Chr11:77180415 [GRCh38] Chr11:76891461 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.2641C>T (p.Arg881Trp) |
single nucleotide variant |
Usher syndrome type 1B [RCV001826101]|not provided [RCV001372004] |
Chr11:77180428 [GRCh38] Chr11:76891474 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.1612T>C (p.Tyr538His) |
single nucleotide variant |
Usher syndrome type 1B [RCV001831279]|not provided [RCV001367943] |
Chr11:77162910 [GRCh38] Chr11:76873956 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.5586G>T (p.Lys1862Asn) |
single nucleotide variant |
not provided [RCV001345743] |
Chr11:77205567 [GRCh38] Chr11:76916612 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.3226G>A (p.Glu1076Lys) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 11 [RCV001329740] |
Chr11:77182541 [GRCh38] Chr11:76893586 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.5809C>T (p.Leu1937Phe) |
single nucleotide variant |
Usher syndrome type 1B [RCV001831100]|not provided [RCV001343666] |
Chr11:77207355 [GRCh38] Chr11:76918400 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.3193A>G (p.Ser1065Gly) |
single nucleotide variant |
Usher syndrome type 1B [RCV001835618]|not provided [RCV001321780] |
Chr11:77182508 [GRCh38] Chr11:76893553 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.2970C>T (p.Asp990=) |
single nucleotide variant |
not provided [RCV001417554] |
Chr11:77182016 [GRCh38] Chr11:76893062 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.5327-10C>T |
single nucleotide variant |
not provided [RCV001289030] |
Chr11:77204066 [GRCh38] Chr11:76915111 [GRCh37] Chr11:11q13.5 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_000260.4(MYO7A):c.133-3C>A |
single nucleotide variant |
Childhood onset hearing loss [RCV001328028] |
Chr11:77147795 [GRCh38] Chr11:76858841 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.5182C>T (p.His1728Tyr) |
single nucleotide variant |
not provided [RCV001309783] |
Chr11:77203073 [GRCh38] Chr11:76914118 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.3292C>G (p.Leu1098Val) |
single nucleotide variant |
Usher syndrome type 1B [RCV001835593]|not provided [RCV001318831] |
Chr11:77183074 [GRCh38] Chr11:76894119 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.5365A>T (p.Thr1789Ser) |
single nucleotide variant |
not provided [RCV001321999] |
Chr11:77204114 [GRCh38] Chr11:76915159 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.19-9C>A |
single nucleotide variant |
not provided [RCV001294474] |
Chr11:77142700 [GRCh38] Chr11:76853746 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.592+18A>T |
single nucleotide variant |
not provided [RCV001307619] |
Chr11:77156799 [GRCh38] Chr11:76867845 [GRCh37] Chr11:11q13.5 |
likely benign|uncertain significance |
NM_000260.4(MYO7A):c.2098G>C (p.Asp700His) |
single nucleotide variant |
Inborn genetic diseases [RCV003365341]|not provided [RCV001340946] |
Chr11:77175375 [GRCh38] Chr11:76886421 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.4592T>C (p.Leu1531Pro) |
single nucleotide variant |
Usher syndrome type 1B [RCV001830353]|not provided [RCV001323144] |
Chr11:77199558 [GRCh38] Chr11:76910603 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.132+6T>C |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 11 [RCV002499473]|Usher syndrome type 1B [RCV001278604]|not provided [RCV001880268] |
Chr11:77142828 [GRCh38] Chr11:76853874 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.1343+6G>A |
single nucleotide variant |
Usher syndrome type 1B [RCV001278613]|not provided [RCV002542902] |
Chr11:77161121 [GRCh38] Chr11:76872167 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.5327-5C>G |
single nucleotide variant |
Usher syndrome type 1B [RCV001277325] |
Chr11:77204071 [GRCh38] Chr11:76915116 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.6145G>A (p.Asp2049Asn) |
single nucleotide variant |
Usher syndrome type 1B [RCV001277336]|not provided [RCV001880223] |
Chr11:77211245 [GRCh38] Chr11:76922290 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.2307C>T (p.Asn769=) |
single nucleotide variant |
Usher syndrome type 1B [RCV001279398]|not provided [RCV001407889] |
Chr11:77179069 [GRCh38] Chr11:76890115 [GRCh37] Chr11:11q13.5 |
likely benign|uncertain significance |
NM_000260.4(MYO7A):c.2337G>A (p.Arg779=) |
single nucleotide variant |
Usher syndrome type 1B [RCV001279399]|not provided [RCV001435541] |
Chr11:77179099 [GRCh38] Chr11:76890145 [GRCh37] Chr11:11q13.5 |
likely benign|uncertain significance |
NM_000260.4(MYO7A):c.3260T>G (p.Leu1087Arg) |
single nucleotide variant |
Usher syndrome type 1B [RCV001279413] |
Chr11:77182575 [GRCh38] Chr11:76893620 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.3456G>A (p.Glu1152=) |
single nucleotide variant |
Usher syndrome type 1B [RCV001279788]|not provided [RCV001476099] |
Chr11:77184668 [GRCh38] Chr11:76895713 [GRCh37] Chr11:11q13.5 |
likely benign|uncertain significance |
NM_000260.4(MYO7A):c.3891C>A (p.Phe1297Leu) |
single nucleotide variant |
Usher syndrome type 1B [RCV001279796] |
Chr11:77190837 [GRCh38] Chr11:76901882 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.3964G>A (p.Ala1322Thr) |
single nucleotide variant |
Usher syndrome type 1B [RCV001279797]|not provided [RCV002537863] |
Chr11:77192090 [GRCh38] Chr11:76903135 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.4593G>T (p.Leu1531=) |
single nucleotide variant |
Usher syndrome type 1B [RCV001279801] |
Chr11:77199559 [GRCh38] Chr11:76910604 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.1092A>T (p.Pro364=) |
single nucleotide variant |
Usher syndrome type 1B [RCV001278610] |
Chr11:77160174 [GRCh38] Chr11:76871220 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.492G>C (p.Lys164Asn) |
single nucleotide variant |
not provided [RCV001324871] |
Chr11:77156681 [GRCh38] Chr11:76867727 [GRCh37] Chr11:11q13.5 |
pathogenic|uncertain significance |
NM_000260.4(MYO7A):c.2057G>C (p.Arg686Pro) |
single nucleotide variant |
Usher syndrome type 1B [RCV001279394] |
Chr11:77174877 [GRCh38] Chr11:76885923 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.2806C>T (p.Pro936Ser) |
single nucleotide variant |
Usher syndrome type 1B [RCV001279410]|not provided [RCV001423888] |
Chr11:77181491 [GRCh38] Chr11:76892537 [GRCh37] Chr11:11q13.5 |
likely benign|uncertain significance |
NM_000260.4(MYO7A):c.3503+8C>A |
single nucleotide variant |
Usher syndrome type 1B [RCV001279789] |
Chr11:77184723 [GRCh38] Chr11:76895768 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.3631-6C>A |
single nucleotide variant |
Usher syndrome type 1B [RCV001279793] |
Chr11:77190014 [GRCh38] Chr11:76901059 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.4032C>T (p.Leu1344=) |
single nucleotide variant |
Usher syndrome type 1B [RCV001279798]|not provided [RCV001438660] |
Chr11:77192158 [GRCh38] Chr11:76903203 [GRCh37] Chr11:11q13.5 |
likely benign|uncertain significance |
NM_000260.4(MYO7A):c.4035C>G (p.Phe1345Leu) |
single nucleotide variant |
Usher syndrome type 1B [RCV001279799] |
Chr11:77192161 [GRCh38] Chr11:76903206 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.4868G>A (p.Gly1623Asp) |
single nucleotide variant |
Usher syndrome type 1B [RCV001279805] |
Chr11:77201463 [GRCh38] Chr11:76912508 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.5098C>T (p.Leu1700=) |
single nucleotide variant |
Usher syndrome type 1B [RCV001279810] |
Chr11:77202354 [GRCh38] Chr11:76913399 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.3752CCA[1] (p.Thr1252del) |
microsatellite |
not provided [RCV001307067] |
Chr11:77190698..77190700 [GRCh38] Chr11:76901743..76901745 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.1610A>G (p.Asn537Ser) |
single nucleotide variant |
not provided [RCV001298519] |
Chr11:77162908 [GRCh38] Chr11:76873954 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.5327-5C>T |
single nucleotide variant |
not provided [RCV001320900] |
Chr11:77204071 [GRCh38] Chr11:76915116 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.3229A>T (p.Thr1077Ser) |
single nucleotide variant |
Usher syndrome type 1B [RCV001830364]|not provided [RCV001324901] |
Chr11:77182544 [GRCh38] Chr11:76893589 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.4327A>C (p.Ile1443Leu) |
single nucleotide variant |
Usher syndrome type 1B [RCV001830241]|not provided [RCV001308130] |
Chr11:77197484 [GRCh38] Chr11:76908529 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.6128G>C (p.Arg2043Thr) |
single nucleotide variant |
not provided [RCV001319405] |
Chr11:77211228 [GRCh38] Chr11:76922273 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.1796T>C (p.Met599Thr) |
single nucleotide variant |
Usher syndrome type 1B [RCV001830419]|not provided [RCV001340238] |
Chr11:77166161 [GRCh38] Chr11:76877207 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.4019C>T (p.Ala1340Val) |
single nucleotide variant |
Usher syndrome type 1B [RCV001826067]|not provided [RCV001368024] |
Chr11:77192145 [GRCh38] Chr11:76903190 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.2904+5C>T |
single nucleotide variant |
not provided [RCV001364373] |
Chr11:77181594 [GRCh38] Chr11:76892640 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.3285+3G>A |
single nucleotide variant |
Usher syndrome type 1B [RCV001830354]|not provided [RCV001323752] |
Chr11:77182603 [GRCh38] Chr11:76893648 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.1004C>T (p.Ala335Val) |
single nucleotide variant |
Usher syndrome type 1B [RCV001831252]|not provided [RCV001364514] |
Chr11:77159447 [GRCh38] Chr11:76870493 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.3631-18C>T |
single nucleotide variant |
not provided [RCV001314428] |
Chr11:77190002 [GRCh38] Chr11:76901047 [GRCh37] Chr11:11q13.5 |
likely benign|uncertain significance |
NM_000260.4(MYO7A):c.4749C>T (p.Thr1583=) |
single nucleotide variant |
not provided [RCV001395590] |
Chr11:77199715 [GRCh38] Chr11:76910760 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.337A>G (p.Ile113Val) |
single nucleotide variant |
not provided [RCV001294646] |
Chr11:77155958 [GRCh38] Chr11:76867004 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.5006T>C (p.Val1669Ala) |
single nucleotide variant |
Usher syndrome type 1B [RCV001831000]|not provided [RCV001325220] |
Chr11:77201601 [GRCh38] Chr11:76912646 [GRCh37] Chr11:11q13.5 |
likely benign|uncertain significance |
NM_000260.4(MYO7A):c.6280G>C (p.Glu2094Gln) |
single nucleotide variant |
Usher syndrome type 1B [RCV001830293]|not provided [RCV001315434] |
Chr11:77211863 [GRCh38] Chr11:76922908 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.2819C>T (p.Ser940Leu) |
single nucleotide variant |
Usher syndrome type 1B [RCV001830284]|not provided [RCV001314551] |
Chr11:77181504 [GRCh38] Chr11:76892550 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.639C>G (p.Phe213Leu) |
single nucleotide variant |
Usher syndrome type 1B [RCV001830309]|not provided [RCV001318028] |
Chr11:77156908 [GRCh38] Chr11:76867954 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.1476C>T (p.Asn492=) |
single nucleotide variant |
not provided [RCV001413679] |
Chr11:77162252 [GRCh38] Chr11:76873298 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.3924+11_3924+12insTGGAAGCACCTCCTCC |
insertion |
not provided [RCV001421602] |
Chr11:77190879..77190880 [GRCh38] Chr11:76901924..76901925 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.4852+6T>C |
single nucleotide variant |
not provided [RCV001350441] |
Chr11:77199824 [GRCh38] Chr11:76910869 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.285+18C>G |
single nucleotide variant |
not provided [RCV001395422] |
Chr11:77147968 [GRCh38] Chr11:76859014 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.3503+10G>A |
single nucleotide variant |
not provided [RCV001288314] |
Chr11:77184725 [GRCh38] Chr11:76895770 [GRCh37] Chr11:11q13.5 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_000260.4(MYO7A):c.4749C>G (p.Thr1583=) |
single nucleotide variant |
not provided [RCV001413786] |
Chr11:77199715 [GRCh38] Chr11:76910760 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.586C>T (p.Leu196=) |
single nucleotide variant |
not provided [RCV001396091] |
Chr11:77156775 [GRCh38] Chr11:76867821 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.6052-17T>G |
single nucleotide variant |
not provided [RCV001396096] |
Chr11:77211135 [GRCh38] Chr11:76922180 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.5086C>T (p.Arg1696Trp) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 11 [RCV002275351]|Usher syndrome type 1B [RCV001830313]|not provided [RCV001318376] |
Chr11:77202342 [GRCh38] Chr11:76913387 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.5471A>G (p.Asn1824Ser) |
single nucleotide variant |
not provided [RCV001366823] |
Chr11:77204220 [GRCh38] Chr11:76915265 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.4715T>C (p.Leu1572Pro) |
single nucleotide variant |
not provided [RCV001269854] |
Chr11:77199681 [GRCh38] Chr11:76910726 [GRCh37] Chr11:11q13.5 |
likely pathogenic |
NM_000260.4(MYO7A):c.5195G>A (p.Arg1732His) |
single nucleotide variant |
Inborn genetic diseases [RCV002537744]|Usher syndrome type 1B [RCV001277324]|not provided [RCV001880222] |
Chr11:77203086 [GRCh38] Chr11:76914131 [GRCh37] Chr11:11q13.5 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_000260.4(MYO7A):c.6154T>G (p.Tyr2052Asp) |
single nucleotide variant |
Usher syndrome type 1B [RCV001277337] |
Chr11:77211254 [GRCh38] Chr11:76922299 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.6384CCT[1] (p.Leu2130del) |
microsatellite |
Usher syndrome type 1B [RCV001277340] |
Chr11:77212980..77212982 [GRCh38] Chr11:76924025..76924027 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.5146G>A (p.Glu1716Lys) |
single nucleotide variant |
Usher syndrome type 1B [RCV001277323] |
Chr11:77202402 [GRCh38] Chr11:76913447 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.5826A>G (p.Gly1942=) |
single nucleotide variant |
Usher syndrome type 1B [RCV001277329]|not provided [RCV002542865] |
Chr11:77207372 [GRCh38] Chr11:76918417 [GRCh37] Chr11:11q13.5 |
likely benign|uncertain significance |
NM_000260.4(MYO7A):c.5879A>T (p.Asp1960Val) |
single nucleotide variant |
Usher syndrome type 1B [RCV001277331] |
Chr11:77208452 [GRCh38] Chr11:76919497 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.6089C>T (p.Thr2030Met) |
single nucleotide variant |
Usher syndrome type 1B [RCV001277335]|not provided [RCV002537746] |
Chr11:77211189 [GRCh38] Chr11:76922234 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.3630+8G>T |
single nucleotide variant |
not provided [RCV001395033] |
Chr11:77189478 [GRCh38] Chr11:76900523 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.6528C>T (p.Arg2176=) |
single nucleotide variant |
not provided [RCV001414161] |
Chr11:77213949 [GRCh38] Chr11:76924994 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.5442T>G (p.Tyr1814Ter) |
single nucleotide variant |
Sensorineural hearing loss disorder [RCV001353208] |
Chr11:77204191 [GRCh38] Chr11:76915236 [GRCh37] Chr11:11q13.5 |
pathogenic |
NM_000260.4(MYO7A):c.156C>T (p.Asn52=) |
single nucleotide variant |
Usher syndrome type 1B [RCV001278605] |
Chr11:77147821 [GRCh38] Chr11:76858867 [GRCh37] Chr11:11q13.5 |
likely benign|uncertain significance |
NM_000260.4(MYO7A):c.1741G>T (p.Val581Phe) |
single nucleotide variant |
Usher syndrome type 1B [RCV001278615] |
Chr11:77166106 [GRCh38] Chr11:76877152 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.3962A>G (p.Asp1321Gly) |
single nucleotide variant |
not provided [RCV001309692] |
Chr11:77192088 [GRCh38] Chr11:76903133 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.6003G>A (p.Thr2001=) |
single nucleotide variant |
Usher syndrome type 1B [RCV001830257]|not provided [RCV001309749] |
Chr11:77208755 [GRCh38] Chr11:76919800 [GRCh37] Chr11:11q13.5 |
likely benign|uncertain significance |
NM_000260.4(MYO7A):c.1191C>T (p.Ala397=) |
single nucleotide variant |
Usher syndrome type 1B [RCV001278612]|not provided [RCV001456207] |
Chr11:77160273 [GRCh38] Chr11:76871319 [GRCh37] Chr11:11q13.5 |
likely benign|uncertain significance |
Single allele |
deletion |
Intellectual disability [RCV001293382] |
Chr11:118359328..118372573 [GRCh37] Chr11:11p15.3-q23.3 |
pathogenic |
NM_000260.4(MYO7A):c.1957G>A (p.Val653Met) |
single nucleotide variant |
Usher syndrome type 1B [RCV001279391] |
Chr11:77174777 [GRCh38] Chr11:76885823 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.2001C>T (p.Ile667=) |
single nucleotide variant |
Usher syndrome type 1B [RCV001279392] |
Chr11:77174821 [GRCh38] Chr11:76885867 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.2034C>T (p.Phe678=) |
single nucleotide variant |
Usher syndrome type 1B [RCV001279393]|not provided [RCV001436775] |
Chr11:77174854 [GRCh38] Chr11:76885900 [GRCh37] Chr11:11q13.5 |
likely benign|uncertain significance |
NM_000260.4(MYO7A):c.2452A>G (p.Ile818Val) |
single nucleotide variant |
Usher syndrome type 1B [RCV001279403]|not provided [RCV001303604] |
Chr11:77179819 [GRCh38] Chr11:76890865 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.6237+9G>A |
single nucleotide variant |
not provided [RCV001421238] |
Chr11:77211346 [GRCh38] Chr11:76922391 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.2119C>A (p.Arg707Ser) |
single nucleotide variant |
Usher syndrome type 1B [RCV001279396]|not provided [RCV001316008] |
Chr11:77175396 [GRCh38] Chr11:76886442 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.3449A>G (p.Asn1150Ser) |
single nucleotide variant |
Usher syndrome type 1B [RCV001279787]|not provided [RCV002542933] |
Chr11:77184661 [GRCh38] Chr11:76895706 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.4791C>A (p.Phe1597Leu) |
single nucleotide variant |
Usher syndrome type 1B [RCV001279803] |
Chr11:77199757 [GRCh38] Chr11:76910802 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.2913G>A (p.Glu971=) |
single nucleotide variant |
not provided [RCV001421812] |
Chr11:77181959 [GRCh38] Chr11:76893005 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.1399C>T (p.Arg467Trp) |
single nucleotide variant |
Hearing impairment [RCV001375360]|not provided [RCV001871973] |
Chr11:77162175 [GRCh38] Chr11:76873221 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.3855C>T (p.Asn1285=) |
single nucleotide variant |
Usher syndrome type 1B [RCV001279795]|not provided [RCV001417085] |
Chr11:77190801 [GRCh38] Chr11:76901846 [GRCh37] Chr11:11q13.5 |
likely benign|uncertain significance |
NM_000260.4(MYO7A):c.5021C>A (p.Thr1674Asn) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 11 [RCV002504408]|Usher syndrome type 1B [RCV001279807]|not provided [RCV002537864] |
Chr11:77201616 [GRCh38] Chr11:76912661 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.5075A>G (p.Gln1692Arg) |
single nucleotide variant |
Usher syndrome type 1B [RCV001279808] |
Chr11:77202331 [GRCh38] Chr11:76913376 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.293C>T (p.Thr98Met) |
single nucleotide variant |
Usher syndrome type 1B [RCV001826040]|not provided [RCV001365377] |
Chr11:77155914 [GRCh38] Chr11:76866960 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.652G>C (p.Asp218His) |
single nucleotide variant |
not specified [RCV001449828] |
Chr11:77156921 [GRCh38] Chr11:76867967 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.4652C>T (p.Ala1551Val) |
single nucleotide variant |
Usher syndrome type 1B [RCV001832580]|not provided [RCV002557522]|not specified [RCV001449829] |
Chr11:77199618 [GRCh38] Chr11:76910663 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.776T>C (p.Leu259Pro) |
single nucleotide variant |
not provided [RCV001306108] |
Chr11:77157319 [GRCh38] Chr11:76868365 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.5782T>C (p.Cys1928Arg) |
single nucleotide variant |
Usher syndrome type 1B [RCV001831208]|not provided [RCV001360957] |
Chr11:77207328 [GRCh38] Chr11:76918373 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.5346C>T (p.Gly1782=) |
single nucleotide variant |
Usher syndrome type 1B [RCV001831209]|not provided [RCV001360959] |
Chr11:77204095 [GRCh38] Chr11:76915140 [GRCh37] Chr11:11q13.5 |
likely benign|uncertain significance |
NM_000260.4(MYO7A):c.3504-10G>A |
single nucleotide variant |
not provided [RCV001395017] |
Chr11:77189334 [GRCh38] Chr11:76900379 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.5106G>A (p.Thr1702=) |
single nucleotide variant |
not provided [RCV001412772] |
Chr11:77202362 [GRCh38] Chr11:76913407 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.5874G>A (p.Glu1958=) |
single nucleotide variant |
not provided [RCV001413649] |
Chr11:77208447 [GRCh38] Chr11:76919492 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.6439-10G>C |
single nucleotide variant |
not provided [RCV001421579] |
Chr11:77213850 [GRCh38] Chr11:76924895 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.5168+9T>G |
single nucleotide variant |
not provided [RCV001395988] |
Chr11:77202433 [GRCh38] Chr11:76913478 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.2666C>T (p.Ala889Val) |
single nucleotide variant |
Hearing impairment [RCV001375081] |
Chr11:77180453 [GRCh38] Chr11:76891499 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.1211G>A (p.Gly404Glu) |
single nucleotide variant |
Hearing impairment [RCV001375266] |
Chr11:77160983 [GRCh38] Chr11:76872029 [GRCh37] Chr11:11q13.5 |
likely pathogenic |
NM_000260.4(MYO7A):c.410T>C (p.Ile137Thr) |
single nucleotide variant |
not provided [RCV001317024] |
Chr11:77156031 [GRCh38] Chr11:76867077 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.3420C>T (p.Asn1140=) |
single nucleotide variant |
not provided [RCV001395070] |
Chr11:77184632 [GRCh38] Chr11:76895677 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.3631-7G>A |
single nucleotide variant |
not provided [RCV001396294] |
Chr11:77190013 [GRCh38] Chr11:76901058 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.4570G>C (p.Glu1524Gln) |
single nucleotide variant |
not provided [RCV001349792] |
Chr11:77199536 [GRCh38] Chr11:76910581 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.4153-7C>T |
single nucleotide variant |
not provided [RCV001412371] |
Chr11:77194347 [GRCh38] Chr11:76905392 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.2573G>A (p.Arg858His) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 11 [RCV001333315]|not provided [RCV002546625] |
Chr11:77179940 [GRCh38] Chr11:76890986 [GRCh37] Chr11:11q13.5 |
likely benign|uncertain significance |
NM_000260.4(MYO7A):c.5179A>C (p.Lys1727Gln) |
single nucleotide variant |
Usher syndrome type 1B [RCV001830402]|not provided [RCV001338433] |
Chr11:77203070 [GRCh38] Chr11:76914115 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.194_217del (p.His65_Arg72del) |
deletion |
not provided [RCV001294315] |
Chr11:77147857..77147880 [GRCh38] Chr11:76858903..76858926 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.341A>G (p.Tyr114Cys) |
single nucleotide variant |
Usher syndrome type 1B [RCV001835421]|not provided [RCV001299065] |
Chr11:77155962 [GRCh38] Chr11:76867008 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.4676C>T (p.Ser1559Phe) |
single nucleotide variant |
Usher syndrome type 1B [RCV001826046]|not provided [RCV001365978] |
Chr11:77199642 [GRCh38] Chr11:76910687 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.1011A>C (p.Thr337=) |
single nucleotide variant |
not provided [RCV001506809] |
Chr11:77159454 [GRCh38] Chr11:76870500 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.2214G>A (p.Val738=) |
single nucleotide variant |
not provided [RCV001472982] |
Chr11:77177575 [GRCh38] Chr11:76888621 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.2235C>T (p.Thr745=) |
single nucleotide variant |
not provided [RCV001494063] |
Chr11:77177596 [GRCh38] Chr11:76888642 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.4635G>A (p.Trp1545Ter) |
single nucleotide variant |
Meniere disease [RCV001526686] |
Chr11:77199601 [GRCh38] Chr11:76910646 [GRCh37] Chr11:11q13.5 |
likely pathogenic |
NM_000260.4(MYO7A):c.2523C>A (p.Leu841=) |
single nucleotide variant |
not provided [RCV001498996] |
Chr11:77179890 [GRCh38] Chr11:76890936 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.2319G>T (p.Leu773=) |
single nucleotide variant |
not provided [RCV001424460] |
Chr11:77179081 [GRCh38] Chr11:76890127 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.4422T>G (p.Tyr1474Ter) |
single nucleotide variant |
not provided [RCV001380124] |
Chr11:77197579 [GRCh38] Chr11:76908624 [GRCh37] Chr11:11q13.5 |
pathogenic |
NM_000260.4(MYO7A):c.5471_5480+5del |
deletion |
not provided [RCV001377536] |
Chr11:77204220..77204234 [GRCh38] Chr11:76915265..76915279 [GRCh37] Chr11:11q13.5 |
likely pathogenic |
NM_000260.4(MYO7A):c.1798-14G>A |
single nucleotide variant |
not provided [RCV001398920] |
Chr11:77172734 [GRCh38] Chr11:76883780 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.4536C>T (p.Ser1512=) |
single nucleotide variant |
not provided [RCV001469552] |
Chr11:77198589 [GRCh38] Chr11:76909634 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.4005C>G (p.Ala1335=) |
single nucleotide variant |
not provided [RCV001469605] |
Chr11:77192131 [GRCh38] Chr11:76903176 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.3633C>T (p.Tyr1211=) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 11 [RCV001578769]|Autosomal recessive nonsyndromic hearing loss 2 [RCV001578770]|Usher syndrome type 1 [RCV001578771]|not provided [RCV001486886] |
Chr11:77190022 [GRCh38] Chr11:76901067 [GRCh37] Chr11:11q13.5 |
likely benign|uncertain significance |
NM_000260.4(MYO7A):c.876G>C (p.Arg292=) |
single nucleotide variant |
not provided [RCV001465024] |
Chr11:77158303 [GRCh38] Chr11:76869349 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.6243C>T (p.Ile2081=) |
single nucleotide variant |
not provided [RCV001450422] |
Chr11:77211826 [GRCh38] Chr11:76922871 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.2368-10G>A |
single nucleotide variant |
not provided [RCV001427723] |
Chr11:77179725 [GRCh38] Chr11:76890771 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.2175G>A (p.Lys725=) |
single nucleotide variant |
not provided [RCV001424532] |
Chr11:77175452 [GRCh38] Chr11:76886498 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.3675G>T (p.Pro1225=) |
single nucleotide variant |
not provided [RCV001398993] |
Chr11:77190064 [GRCh38] Chr11:76901109 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.4734C>T (p.Asp1578=) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 11 [RCV001578725]|Autosomal recessive nonsyndromic hearing loss 2 [RCV001578726]|Usher syndrome type 1 [RCV001578727]|not provided [RCV001435516] |
Chr11:77199700 [GRCh38] Chr11:76910745 [GRCh37] Chr11:11q13.5 |
likely benign|uncertain significance |
NM_000260.4(MYO7A):c.5403G>A (p.Glu1801=) |
single nucleotide variant |
not provided [RCV001457077] |
Chr11:77204152 [GRCh38] Chr11:76915197 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.3660G>T (p.Pro1220=) |
single nucleotide variant |
not provided [RCV001466727] |
Chr11:77190049 [GRCh38] Chr11:76901094 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.133-17G>A |
single nucleotide variant |
not provided [RCV001519966] |
Chr11:77147781 [GRCh38] Chr11:76858827 [GRCh37] Chr11:11q13.5 |
benign |
NM_000260.4(MYO7A):c.810G>T (p.Leu270=) |
single nucleotide variant |
not provided [RCV001458003] |
Chr11:77157353 [GRCh38] Chr11:76868399 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.4852+15G>A |
single nucleotide variant |
not provided [RCV001465240] |
Chr11:77199833 [GRCh38] Chr11:76910878 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.6633C>G (p.Ser2211=) |
single nucleotide variant |
not provided [RCV001399443] |
Chr11:77214681 [GRCh38] Chr11:76925726 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.1416G>T (p.Leu472=) |
single nucleotide variant |
not provided [RCV001402204] |
Chr11:77162192 [GRCh38] Chr11:76873238 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.132+7A>C |
single nucleotide variant |
not provided [RCV001490712] |
Chr11:77142829 [GRCh38] Chr11:76853875 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.4359G>A (p.Lys1453=) |
single nucleotide variant |
not provided [RCV001475194] |
Chr11:77197516 [GRCh38] Chr11:76908561 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.1691-10C>G |
single nucleotide variant |
not provided [RCV001492408] |
Chr11:77166046 [GRCh38] Chr11:76877092 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.1953G>A (p.Leu651=) |
single nucleotide variant |
not provided [RCV001499605] |
Chr11:77174773 [GRCh38] Chr11:76885819 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.4971G>A (p.Lys1657=) |
single nucleotide variant |
not provided [RCV001425089] |
Chr11:77201566 [GRCh38] Chr11:76912611 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.833_841del (p.Tyr278_Tyr280del) |
deletion |
not provided [RCV001380475] |
Chr11:77157373..77157381 [GRCh38] Chr11:76868419..76868427 [GRCh37] Chr11:11q13.5 |
pathogenic |
NM_000260.4(MYO7A):c.3375+10G>A |
single nucleotide variant |
not provided [RCV001428090] |
Chr11:77183167 [GRCh38] Chr11:76894212 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.3951C>T (p.Asp1317=) |
single nucleotide variant |
not provided [RCV001473540] |
Chr11:77192077 [GRCh38] Chr11:76903122 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.3885C>T (p.Asp1295=) |
single nucleotide variant |
not provided [RCV001490792] |
Chr11:77190831 [GRCh38] Chr11:76901876 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.6435G>A (p.Thr2145=) |
single nucleotide variant |
not provided [RCV001499929] |
Chr11:77213032 [GRCh38] Chr11:76924077 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.5031G>A (p.Pro1677=) |
single nucleotide variant |
not provided [RCV001468692] |
Chr11:77201626 [GRCh38] Chr11:76912671 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.6174G>A (p.Lys2058=) |
single nucleotide variant |
not provided [RCV001399857] |
Chr11:77211274 [GRCh38] Chr11:76922319 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.4436del (p.Phe1479fs) |
deletion |
not provided [RCV001389897] |
Chr11:77197592 [GRCh38] Chr11:76908637 [GRCh37] Chr11:11q13.5 |
pathogenic |
NM_000260.4(MYO7A):c.568T>C (p.Leu190=) |
single nucleotide variant |
not provided [RCV001399523] |
Chr11:77156757 [GRCh38] Chr11:76867803 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.3687G>A (p.Glu1229=) |
single nucleotide variant |
not provided [RCV001425063] |
Chr11:77190076 [GRCh38] Chr11:76901121 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.2282+10C>T |
single nucleotide variant |
not provided [RCV001436058] |
Chr11:77177653 [GRCh38] Chr11:76888699 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.6057G>A (p.Leu2019=) |
single nucleotide variant |
not provided [RCV001457587] |
Chr11:77211157 [GRCh38] Chr11:76922202 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.1671C>T (p.Ile557=) |
single nucleotide variant |
not provided [RCV001488118] |
Chr11:77162969 [GRCh38] Chr11:76874015 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.5523G>T (p.Thr1841=) |
single nucleotide variant |
not provided [RCV001491130] |
Chr11:77205504 [GRCh38] Chr11:76916549 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.964C>T (p.Leu322=) |
single nucleotide variant |
not provided [RCV001458947] |
Chr11:77158391 [GRCh38] Chr11:76869437 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.1004-20G>A |
single nucleotide variant |
not provided [RCV001482980] |
Chr11:77159427 [GRCh38] Chr11:76870473 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.3789A>C (p.Thr1263=) |
single nucleotide variant |
not provided [RCV001417674] |
Chr11:77190735 [GRCh38] Chr11:76901780 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.3675G>A (p.Pro1225=) |
single nucleotide variant |
not provided [RCV001496729] |
Chr11:77190064 [GRCh38] Chr11:76901109 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.393C>A (p.Pro131=) |
single nucleotide variant |
not provided [RCV001465952] |
Chr11:77156014 [GRCh38] Chr11:76867060 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.3324G>A (p.Arg1108=) |
single nucleotide variant |
not provided [RCV001486316] |
Chr11:77183106 [GRCh38] Chr11:76894151 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.4176C>T (p.Ala1392=) |
single nucleotide variant |
not provided [RCV001425782] |
Chr11:77194377 [GRCh38] Chr11:76905422 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.6138C>T (p.Phe2046=) |
single nucleotide variant |
not provided [RCV001405403] |
Chr11:77211238 [GRCh38] Chr11:76922283 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.1021C>T (p.Leu341=) |
single nucleotide variant |
not provided [RCV001482603] |
Chr11:77159464 [GRCh38] Chr11:76870510 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.3330G>A (p.Lys1110=) |
single nucleotide variant |
not provided [RCV001505284] |
Chr11:77183112 [GRCh38] Chr11:76894157 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.783T>A (p.Gly261=) |
single nucleotide variant |
not provided [RCV001475595] |
Chr11:77157326 [GRCh38] Chr11:76868372 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.2758C>A (p.Arg920=) |
single nucleotide variant |
not provided [RCV001500409] |
Chr11:77181443 [GRCh38] Chr11:76892489 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.5043+8G>A |
single nucleotide variant |
not provided [RCV001483584] |
Chr11:77201646 [GRCh38] Chr11:76912691 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.2472C>T (p.Cys824=) |
single nucleotide variant |
not provided [RCV001486490] |
Chr11:77179839 [GRCh38] Chr11:76890885 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.1623C>T (p.Pro541=) |
single nucleotide variant |
not provided [RCV001486498] |
Chr11:77162921 [GRCh38] Chr11:76873967 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.4437C>T (p.Phe1479=) |
single nucleotide variant |
not provided [RCV001403068] |
Chr11:77197594 [GRCh38] Chr11:76908639 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.3333G>A (p.Leu1111=) |
single nucleotide variant |
not provided [RCV001442018] |
Chr11:77183115 [GRCh38] Chr11:76894160 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.5857-7_5857-6delinsTT |
indel |
not provided [RCV001471721] |
Chr11:77208423..77208424 [GRCh38] Chr11:76919468..76919469 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.47_48inv (p.Leu16Ser) |
inversion |
not provided [RCV001475655] |
Chr11:77142737..77142738 [GRCh38] Chr11:76853783..76853784 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.3849C>G (p.Leu1283=) |
single nucleotide variant |
not provided [RCV001452355] |
Chr11:77190795 [GRCh38] Chr11:76901840 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.681C>T (p.Ile227=) |
single nucleotide variant |
not provided [RCV001476992] |
Chr11:77156950 [GRCh38] Chr11:76867996 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.2592G>A (p.Leu864=) |
single nucleotide variant |
not provided [RCV001459720] |
Chr11:77180379 [GRCh38] Chr11:76891425 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.1329C>T (p.Asn443=) |
single nucleotide variant |
not provided [RCV001500712] |
Chr11:77161101 [GRCh38] Chr11:76872147 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.1266C>T (p.Pro422=) |
single nucleotide variant |
not provided [RCV001483639] |
Chr11:77161038 [GRCh38] Chr11:76872084 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.4569-9C>A |
single nucleotide variant |
not provided [RCV001431230] |
Chr11:77199526 [GRCh38] Chr11:76910571 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.669G>A (p.Lys223=) |
single nucleotide variant |
not provided [RCV001431231] |
Chr11:77156938 [GRCh38] Chr11:76867984 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.2100C>T (p.Asp700=) |
single nucleotide variant |
not provided [RCV001405691] |
Chr11:77175377 [GRCh38] Chr11:76886423 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.2361C>T (p.Tyr787=) |
single nucleotide variant |
not provided [RCV001462391] |
Chr11:77179123 [GRCh38] Chr11:76890169 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.3888G>T (p.Arg1296=) |
single nucleotide variant |
not provided [RCV001503322] |
Chr11:77190834 [GRCh38] Chr11:76901879 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.5547C>A (p.Ile1849=) |
single nucleotide variant |
not provided [RCV001505565] |
Chr11:77205528 [GRCh38] Chr11:76916573 [GRCh37] Chr11:11q13.5 |
likely benign|conflicting interpretations of pathogenicity |
NM_000260.4(MYO7A):c.1935+8_1935+9delinsAA |
indel |
not provided [RCV001471840] |
Chr11:77172893..77172894 [GRCh38] Chr11:76883939..76883940 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.6558+10C>T |
single nucleotide variant |
not provided [RCV001471841] |
Chr11:77213989 [GRCh38] Chr11:76925034 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.5169-4G>A |
single nucleotide variant |
not provided [RCV001474405] |
Chr11:77203056 [GRCh38] Chr11:76914101 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.6292C>T (p.Leu2098=) |
single nucleotide variant |
not provided [RCV001492909] |
Chr11:77211875 [GRCh38] Chr11:76922920 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.4548C>T (p.Ile1516=) |
single nucleotide variant |
not provided [RCV001486831] |
Chr11:77198601 [GRCh38] Chr11:76909646 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.111G>A (p.Gln37=) |
single nucleotide variant |
not provided [RCV001418581] |
Chr11:77142801 [GRCh38] Chr11:76853847 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.6023T>C (p.Met2008Thr) |
single nucleotide variant |
not provided [RCV001403347] |
Chr11:77208775 [GRCh38] Chr11:76919820 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.4056G>A (p.Thr1352=) |
single nucleotide variant |
not provided [RCV001439698] |
Chr11:77192182 [GRCh38] Chr11:76903227 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.234G>A (p.Glu78=) |
single nucleotide variant |
not provided [RCV001392894] |
Chr11:77147899 [GRCh38] Chr11:76858945 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.5271C>T (p.Leu1757=) |
single nucleotide variant |
not provided [RCV001483134] |
Chr11:77203162 [GRCh38] Chr11:76914207 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.4324-8C>T |
single nucleotide variant |
not provided [RCV001468299] |
Chr11:77197473 [GRCh38] Chr11:76908518 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.4242C>T (p.Pro1414=) |
single nucleotide variant |
not provided [RCV001504267] |
Chr11:77194443 [GRCh38] Chr11:76905488 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.228C>T (p.Leu76=) |
single nucleotide variant |
not provided [RCV001486897] |
Chr11:77147893 [GRCh38] Chr11:76858939 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.3930C>T (p.Ser1310=) |
single nucleotide variant |
not provided [RCV001426390] |
Chr11:77192056 [GRCh38] Chr11:76903101 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.1935+9C>T |
single nucleotide variant |
not provided [RCV001400923] |
Chr11:77172894 [GRCh38] Chr11:76883940 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.736-9C>T |
single nucleotide variant |
not provided [RCV001429007] |
Chr11:77157270 [GRCh38] Chr11:76868316 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.675C>T (p.Gly225=) |
single nucleotide variant |
not provided [RCV001500659] |
Chr11:77156944 [GRCh38] Chr11:76867990 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.498G>A (p.Glu166=) |
single nucleotide variant |
not provided [RCV001503511] |
Chr11:77156687 [GRCh38] Chr11:76867733 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.165C>T (p.His55=) |
single nucleotide variant |
not provided [RCV001491733] |
Chr11:77147830 [GRCh38] Chr11:76858876 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.3087T>C (p.His1029=) |
single nucleotide variant |
not provided [RCV001484350] |
Chr11:77182133 [GRCh38] Chr11:76893179 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.162G>A (p.Thr54=) |
single nucleotide variant |
not provided [RCV001487311] |
Chr11:77147827 [GRCh38] Chr11:76858873 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.4515G>A (p.Glu1505=) |
single nucleotide variant |
not provided [RCV001470328] |
Chr11:77198568 [GRCh38] Chr11:76909613 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.717G>A (p.Lys239=) |
single nucleotide variant |
not provided [RCV001403727] |
Chr11:77156986 [GRCh38] Chr11:76868032 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.4674G>A (p.Trp1558Ter) |
single nucleotide variant |
not provided [RCV001390833] |
Chr11:77199640 [GRCh38] Chr11:76910685 [GRCh37] Chr11:11q13.5 |
pathogenic |
NM_000260.4(MYO7A):c.5256C>G (p.Leu1752=) |
single nucleotide variant |
not provided [RCV001442640] |
Chr11:77203147 [GRCh38] Chr11:76914192 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.2097C>A (p.Gly699=) |
single nucleotide variant |
not provided [RCV001406144] |
Chr11:77175374 [GRCh38] Chr11:76886420 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.471-6C>T |
single nucleotide variant |
not provided [RCV001406151] |
Chr11:77156654 [GRCh38] Chr11:76867700 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.6171C>T (p.Pro2057=) |
single nucleotide variant |
not provided [RCV001500797] |
Chr11:77211271 [GRCh38] Chr11:76922316 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.1213C>A (p.Arg405=) |
single nucleotide variant |
not provided [RCV001466237] |
Chr11:77160985 [GRCh38] Chr11:76872031 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.4236C>T (p.Leu1412=) |
single nucleotide variant |
not provided [RCV001472215] |
Chr11:77194437 [GRCh38] Chr11:76905482 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.3840C>T (p.Ala1280=) |
single nucleotide variant |
not provided [RCV001472235] |
Chr11:77190786 [GRCh38] Chr11:76901831 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.5349C>A (p.Asp1783Glu) |
single nucleotide variant |
not provided [RCV001491836] |
Chr11:77204098 [GRCh38] Chr11:76915143 [GRCh37] Chr11:11q13.5 |
likely benign|conflicting interpretations of pathogenicity |
NM_000260.4(MYO7A):c.3642C>T (p.Asn1214=) |
single nucleotide variant |
not provided [RCV001470403] |
Chr11:77190031 [GRCh38] Chr11:76901076 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.60C>T (p.Phe20=) |
single nucleotide variant |
not provided [RCV001487734] |
Chr11:77142750 [GRCh38] Chr11:76853796 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.3015G>C (p.Ala1005=) |
single nucleotide variant |
not provided [RCV001426787] |
Chr11:77182061 [GRCh38] Chr11:76893107 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.5857-1_5857delinsAT |
indel |
not provided [RCV001379617] |
Chr11:77208429..77208430 [GRCh38] Chr11:76919474..76919475 [GRCh37] Chr11:11q13.5 |
likely pathogenic |
NM_000260.4(MYO7A):c.6591C>T (p.Tyr2197=) |
single nucleotide variant |
not provided [RCV001403890] |
Chr11:77214639 [GRCh38] Chr11:76925684 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.876G>T (p.Arg292=) |
single nucleotide variant |
not provided [RCV001486013] |
Chr11:77158303 [GRCh38] Chr11:76869349 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.6423C>T (p.Ile2141=) |
single nucleotide variant |
not provided [RCV001506367] |
Chr11:77213020 [GRCh38] Chr11:76924065 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.1872G>A (p.Thr624=) |
single nucleotide variant |
not provided [RCV001491954] |
Chr11:77172822 [GRCh38] Chr11:76883868 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.2283-4T>G |
single nucleotide variant |
not provided [RCV001478332] |
Chr11:77179041 [GRCh38] Chr11:76890087 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.5001G>A (p.Val1667=) |
single nucleotide variant |
not provided [RCV001481548] |
Chr11:77201596 [GRCh38] Chr11:76912641 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.46T>C (p.Leu16=) |
single nucleotide variant |
not provided [RCV001457043] |
Chr11:77142736 [GRCh38] Chr11:76853782 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.1080+7G>A |
single nucleotide variant |
not provided [RCV001470819] |
Chr11:77159530 [GRCh38] Chr11:76870576 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.4464C>T (p.Asp1488=) |
single nucleotide variant |
not provided [RCV001427105]|not specified [RCV001699544] |
Chr11:77198517 [GRCh38] Chr11:76909562 [GRCh37] Chr11:11q13.5 |
benign|likely benign |
NM_000260.4(MYO7A):c.3924+9G>A |
single nucleotide variant |
not provided [RCV001427113] |
Chr11:77190879 [GRCh38] Chr11:76901924 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.87G>A (p.Lys29=) |
single nucleotide variant |
not provided [RCV001456495] |
Chr11:77142777 [GRCh38] Chr11:76853823 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.3834C>T (p.Thr1278=) |
single nucleotide variant |
not provided [RCV001463801] |
Chr11:77190780 [GRCh38] Chr11:76901825 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.3288C>A (p.Ala1096=) |
single nucleotide variant |
not provided [RCV001484935] |
Chr11:77183070 [GRCh38] Chr11:76894115 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.3891C>T (p.Phe1297=) |
single nucleotide variant |
not provided [RCV001471286] |
Chr11:77190837 [GRCh38] Chr11:76901882 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.1785C>T (p.Ala595=) |
single nucleotide variant |
not provided [RCV001497691] |
Chr11:77166150 [GRCh38] Chr11:76877196 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.1214G>A (p.Arg405Gln) |
single nucleotide variant |
not provided [RCV001490092] |
Chr11:77160986 [GRCh38] Chr11:76872032 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.42G>A (p.Leu14=) |
single nucleotide variant |
not provided [RCV001474845] |
Chr11:77142732 [GRCh38] Chr11:76853778 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.5433C>T (p.Asp1811=) |
single nucleotide variant |
not provided [RCV001474846] |
Chr11:77204182 [GRCh38] Chr11:76915227 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.1503C>T (p.Asn501=) |
single nucleotide variant |
not provided [RCV001493619] |
Chr11:77162279 [GRCh38] Chr11:76873325 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.1296C>T (p.Ser432=) |
single nucleotide variant |
not provided [RCV001493660] |
Chr11:77161068 [GRCh38] Chr11:76872114 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.592+16C>T |
single nucleotide variant |
not provided [RCV001471586] |
Chr11:77156797 [GRCh38] Chr11:76867843 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.6297del (p.Phe2100fs) |
deletion |
not provided [RCV001384349] |
Chr11:77211879 [GRCh38] Chr11:76922924 [GRCh37] Chr11:11q13.5 |
pathogenic |
NM_000260.4(MYO7A):c.4326G>A (p.Gly1442=) |
single nucleotide variant |
not provided [RCV001453192] |
Chr11:77197483 [GRCh38] Chr11:76908528 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.470+6C>T |
single nucleotide variant |
not provided [RCV001536667] |
Chr11:77156097 [GRCh38] Chr11:76867143 [GRCh37] Chr11:11q13.5 |
likely benign|conflicting interpretations of pathogenicity |
NM_000260.4(MYO7A):c.6000C>G (p.Thr2000=) |
single nucleotide variant |
not provided [RCV001437007] |
Chr11:77208752 [GRCh38] Chr11:76919797 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.395C>T (p.Pro132Leu) |
single nucleotide variant |
not provided [RCV001378982] |
Chr11:77156016 [GRCh38] Chr11:76867062 [GRCh37] Chr11:11q13.5 |
pathogenic|likely pathogenic |
NM_000260.4(MYO7A):c.3039C>T (p.Thr1013=) |
single nucleotide variant |
not provided [RCV001426129] |
Chr11:77182085 [GRCh38] Chr11:76893131 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.5637-8C>A |
single nucleotide variant |
not provided [RCV001439312] |
Chr11:77206089 [GRCh38] Chr11:76917134 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.3435C>T (p.Asp1145=) |
single nucleotide variant |
not provided [RCV001441005] |
Chr11:77184647 [GRCh38] Chr11:76895692 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.593-8C>T |
single nucleotide variant |
not provided [RCV001424595] |
Chr11:77156854 [GRCh38] Chr11:76867900 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.4776C>T (p.Asp1592=) |
single nucleotide variant |
not provided [RCV001394188] |
Chr11:77199742 [GRCh38] Chr11:76910787 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.6120G>C (p.Leu2040=) |
single nucleotide variant |
not provided [RCV001416876] |
Chr11:77211220 [GRCh38] Chr11:76922265 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.3810G>A (p.Lys1270=) |
single nucleotide variant |
not provided [RCV001426173] |
Chr11:77190756 [GRCh38] Chr11:76901801 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.4764G>A (p.Glu1588=) |
single nucleotide variant |
not provided [RCV001419954] |
Chr11:77199730 [GRCh38] Chr11:76910775 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.63C>T (p.Asp21=) |
single nucleotide variant |
not provided [RCV001402103] |
Chr11:77142753 [GRCh38] Chr11:76853799 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.2440dup (p.Arg814fs) |
duplication |
not provided [RCV001380496] |
Chr11:77179804..77179805 [GRCh38] Chr11:76890850..76890851 [GRCh37] Chr11:11q13.5 |
pathogenic |
NM_000260.4(MYO7A):c.2436G>A (p.Leu812=) |
single nucleotide variant |
not provided [RCV001448840] |
Chr11:77179803 [GRCh38] Chr11:76890849 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.957G>A (p.Ser319=) |
single nucleotide variant |
not provided [RCV001435645] |
Chr11:77158384 [GRCh38] Chr11:76869430 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.6237+13_6237+33del |
deletion |
not provided [RCV001424778] |
Chr11:77211345..77211365 [GRCh38] Chr11:76922390..76922410 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.4153-19G>A |
single nucleotide variant |
not provided [RCV001430129] |
Chr11:77194335 [GRCh38] Chr11:76905380 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.1156C>T (p.Leu386=) |
single nucleotide variant |
not provided [RCV001404500] |
Chr11:77160238 [GRCh38] Chr11:76871284 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.5526C>T (p.Gly1842=) |
single nucleotide variant |
not provided [RCV001446136] |
Chr11:77205507 [GRCh38] Chr11:76916552 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.3925-10G>A |
single nucleotide variant |
not provided [RCV001436361] |
Chr11:77192041 [GRCh38] Chr11:76903086 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.1782G>A (p.Gln594=) |
single nucleotide variant |
not provided [RCV001443841] |
Chr11:77166147 [GRCh38] Chr11:76877193 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.2643G>A (p.Arg881=) |
single nucleotide variant |
not provided [RCV001392990] |
Chr11:77180430 [GRCh38] Chr11:76891476 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.69C>T (p.Pro23=) |
single nucleotide variant |
not provided [RCV001428852] |
Chr11:77142759 [GRCh38] Chr11:76853805 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.930C>T (p.Phe310=) |
single nucleotide variant |
not provided [RCV001409657] |
Chr11:77158357 [GRCh38] Chr11:76869403 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.2188-8C>T |
single nucleotide variant |
not provided [RCV001409688] |
Chr11:77177541 [GRCh38] Chr11:76888587 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.1935+10C>T |
single nucleotide variant |
not provided [RCV001425503] |
Chr11:77172895 [GRCh38] Chr11:76883941 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.6126C>G (p.Tyr2042Ter) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 2 [RCV001823206]|not provided [RCV001389906] |
Chr11:77211226 [GRCh38] Chr11:76922271 [GRCh37] Chr11:11q13.5 |
pathogenic |
NM_000260.4(MYO7A):c.6246C>T (p.Val2082=) |
single nucleotide variant |
not provided [RCV001444073] |
Chr11:77211829 [GRCh38] Chr11:76922874 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.2145C>T (p.Thr715=) |
single nucleotide variant |
not provided [RCV001407463] |
Chr11:77175422 [GRCh38] Chr11:76886468 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.4800del (p.Leu1601fs) |
deletion |
not provided [RCV001388287] |
Chr11:77199763 [GRCh38] Chr11:76910808 [GRCh37] Chr11:11q13.5 |
pathogenic |
NM_000260.4(MYO7A):c.1950C>T (p.His650=) |
single nucleotide variant |
not provided [RCV001400265] |
Chr11:77174770 [GRCh38] Chr11:76885816 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.5139G>A (p.Thr1713=) |
single nucleotide variant |
not provided [RCV001407560] |
Chr11:77202395 [GRCh38] Chr11:76913440 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.133-5C>T |
single nucleotide variant |
not provided [RCV001410099] |
Chr11:77147793 [GRCh38] Chr11:76858839 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.1311C>T (p.Asp437=) |
single nucleotide variant |
not provided [RCV001446795] |
Chr11:77161083 [GRCh38] Chr11:76872129 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.3099T>G (p.Gly1033=) |
single nucleotide variant |
not provided [RCV001446839] |
Chr11:77182145 [GRCh38] Chr11:76893191 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.1809C>G (p.Thr603=) |
single nucleotide variant |
not provided [RCV001415629] |
Chr11:77172759 [GRCh38] Chr11:76883805 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.4441+57_4441+196del |
deletion |
not provided [RCV001430624] |
Chr11:77197607..77197746 [GRCh38] Chr11:76908652..76908791 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.1803C>T (p.Ala601=) |
single nucleotide variant |
not provided [RCV001449311] |
Chr11:77172753 [GRCh38] Chr11:76883799 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.2505C>T (p.His835=) |
single nucleotide variant |
not provided [RCV001393227] |
Chr11:77179872 [GRCh38] Chr11:76890918 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.162G>C (p.Thr54=) |
single nucleotide variant |
not provided [RCV001418976] |
Chr11:77147827 [GRCh38] Chr11:76858873 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.3756C>T (p.Thr1252=) |
single nucleotide variant |
not provided [RCV001430688] |
Chr11:77190702 [GRCh38] Chr11:76901747 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.3503+10_3503+31del |
deletion |
not provided [RCV001407589] |
Chr11:77184722..77184743 [GRCh38] Chr11:76895767..76895788 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.3264G>A (p.Gln1088=) |
single nucleotide variant |
not provided [RCV001449487] |
Chr11:77182579 [GRCh38] Chr11:76893624 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.2003G>C (p.Arg668Pro) |
single nucleotide variant |
not provided [RCV001379002] |
Chr11:77174823 [GRCh38] Chr11:76885869 [GRCh37] Chr11:11q13.5 |
likely pathogenic |
NM_000260.4(MYO7A):c.593-18A>G |
single nucleotide variant |
not provided [RCV001444497] |
Chr11:77156844 [GRCh38] Chr11:76867890 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.4777C>T (p.Leu1593=) |
single nucleotide variant |
not provided [RCV001410437] |
Chr11:77199743 [GRCh38] Chr11:76910788 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.5928T>G (p.Ala1976=) |
single nucleotide variant |
Usher syndrome type 1B [RCV001831450]|not provided [RCV001410538] |
Chr11:77208501 [GRCh38] Chr11:76919546 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.4296C>T (p.Ala1432=) |
single nucleotide variant |
not provided [RCV001410550] |
Chr11:77194497 [GRCh38] Chr11:76905542 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.231C>T (p.Asn77=) |
single nucleotide variant |
not provided [RCV001437098] |
Chr11:77147896 [GRCh38] Chr11:76858942 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.5814G>A (p.Lys1938=) |
single nucleotide variant |
not provided [RCV001405668] |
Chr11:77207360 [GRCh38] Chr11:76918405 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.4470C>T (p.Ile1490=) |
single nucleotide variant |
not provided [RCV001444614] |
Chr11:77198523 [GRCh38] Chr11:76909568 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.1004-8G>A |
single nucleotide variant |
not provided [RCV001444636] |
Chr11:77159439 [GRCh38] Chr11:76870485 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.5280C>T (p.Leu1760=) |
single nucleotide variant |
not provided [RCV001444644] |
Chr11:77203171 [GRCh38] Chr11:76914216 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.133-88C>T |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 11 [RCV001533387]|Autosomal recessive nonsyndromic hearing loss 2 [RCV001533388]|Usher syndrome type 1 [RCV001533389]|not provided [RCV001615253] |
Chr11:77147710 [GRCh38] Chr11:76858756 [GRCh37] Chr11:11q13.5 |
benign |
NM_000260.4(MYO7A):c.4441+195G>A |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 11 [RCV001533401]|Autosomal recessive nonsyndromic hearing loss 2 [RCV001533402]|Usher syndrome type 1 [RCV001533403] |
Chr11:77197793 [GRCh38] Chr11:76908838 [GRCh37] Chr11:11q13.5 |
benign |
NM_000260.4(MYO7A):c.3249C>A (p.Tyr1083Ter) |
single nucleotide variant |
not provided [RCV001388627] |
Chr11:77182564 [GRCh38] Chr11:76893609 [GRCh37] Chr11:11q13.5 |
pathogenic |
NM_000260.4(MYO7A):c.4731G>A (p.Gly1577=) |
single nucleotide variant |
not provided [RCV001431133] |
Chr11:77199697 [GRCh38] Chr11:76910742 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.3606C>T (p.Phe1202=) |
single nucleotide variant |
not provided [RCV001407965] |
Chr11:77189446 [GRCh38] Chr11:76900491 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.2367+9C>T |
single nucleotide variant |
not provided [RCV001407981] |
Chr11:77179138 [GRCh38] Chr11:76890184 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.5428A>T (p.Lys1810Ter) |
single nucleotide variant |
Usher syndrome type 1B [RCV001826164]|not provided [RCV001383416] |
Chr11:77204177 [GRCh38] Chr11:76915222 [GRCh37] Chr11:11q13.5 |
pathogenic |
NM_000260.4(MYO7A):c.4266C>T (p.Ile1422=) |
single nucleotide variant |
not provided [RCV001434266] |
Chr11:77194467 [GRCh38] Chr11:76905512 [GRCh37] Chr11:11q13.5 |
likely benign |
NC_000011.9:g.(?_76911660)_76917177del |
deletion |
not provided [RCV001379203] |
|
likely pathogenic |
NM_000260.4(MYO7A):c.4305C>T (p.Ala1435=) |
single nucleotide variant |
not provided [RCV001434801] |
Chr11:77194506 [GRCh38] Chr11:76905551 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.4770dup (p.Arg1591fs) |
duplication |
not provided [RCV001386672] |
Chr11:77199734..77199735 [GRCh38] Chr11:76910779..76910780 [GRCh37] Chr11:11q13.5 |
pathogenic |
NM_000260.4(MYO7A):c.1314C>T (p.Ile438=) |
single nucleotide variant |
not provided [RCV001408203] |
Chr11:77161086 [GRCh38] Chr11:76872132 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.3894G>T (p.Gly1298=) |
single nucleotide variant |
not provided [RCV001423527] |
Chr11:77190840 [GRCh38] Chr11:76901885 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.1917T>C (p.Asn639=) |
single nucleotide variant |
not provided [RCV001423647] |
Chr11:77172867 [GRCh38] Chr11:76883913 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.5550C>T (p.Leu1850=) |
single nucleotide variant |
not provided [RCV001429018] |
Chr11:77205531 [GRCh38] Chr11:76916576 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.1185C>T (p.Arg395=) |
single nucleotide variant |
not provided [RCV001447570] |
Chr11:77160267 [GRCh38] Chr11:76871313 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.592+17G>A |
single nucleotide variant |
not provided [RCV001447680] |
Chr11:77156798 [GRCh38] Chr11:76867844 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.523C>T (p.Leu175=) |
single nucleotide variant |
not provided [RCV001424014] |
Chr11:77156712 [GRCh38] Chr11:76867758 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.55G>T (p.Glu19Ter) |
single nucleotide variant |
not provided [RCV001386770] |
Chr11:77142745 [GRCh38] Chr11:76853791 [GRCh37] Chr11:11q13.5 |
pathogenic |
NM_000260.4(MYO7A):c.4554C>T (p.Ala1518=) |
single nucleotide variant |
not provided [RCV001398178] |
Chr11:77198607 [GRCh38] Chr11:76909652 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.5424C>T (p.Pro1808=) |
single nucleotide variant |
not provided [RCV001411100] |
Chr11:77204173 [GRCh38] Chr11:76915218 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.19-5del |
deletion |
not provided [RCV001403999] |
Chr11:77142702 [GRCh38] Chr11:76853748 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.1179C>T (p.Asp393=) |
single nucleotide variant |
not provided [RCV001431500] |
Chr11:77160261 [GRCh38] Chr11:76871307 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.592+7C>T |
single nucleotide variant |
not provided [RCV001408417] |
Chr11:77156788 [GRCh38] Chr11:76867834 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.1125C>T (p.Leu375=) |
single nucleotide variant |
not provided [RCV001408468] |
Chr11:77160207 [GRCh38] Chr11:76871253 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.1548C>T (p.Phe516=) |
single nucleotide variant |
not provided [RCV001440210] |
Chr11:77162324 [GRCh38] Chr11:76873370 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.3255G>A (p.Arg1085=) |
single nucleotide variant |
not provided [RCV001408783] |
Chr11:77182570 [GRCh38] Chr11:76893615 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.3503+10G>T |
single nucleotide variant |
not provided [RCV001425707] |
Chr11:77184725 [GRCh38] Chr11:76895770 [GRCh37] Chr11:11q13.5 |
likely benign |
NC_000011.9:g.(?_76924874)_76927099del |
deletion |
not provided [RCV001378672] |
|
likely pathogenic |
NM_000260.4(MYO7A):c.2457G>A (p.Gln819=) |
single nucleotide variant |
not provided [RCV001431641] |
Chr11:77179824 [GRCh38] Chr11:76890870 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.4446C>T (p.Pro1482=) |
single nucleotide variant |
not provided [RCV001447778] |
Chr11:77198499 [GRCh38] Chr11:76909544 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.1509C>T (p.Pro503=) |
single nucleotide variant |
not provided [RCV001427254] |
Chr11:77162285 [GRCh38] Chr11:76873331 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.4767C>T (p.Asp1589=) |
single nucleotide variant |
not provided [RCV001429444] |
Chr11:77199733 [GRCh38] Chr11:76910778 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.5316G>A (p.Leu1772=) |
single nucleotide variant |
not provided [RCV001411429] |
Chr11:77203207 [GRCh38] Chr11:76914252 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.5055C>T (p.Thr1685=) |
single nucleotide variant |
not provided [RCV001400357] |
Chr11:77202311 [GRCh38] Chr11:76913356 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.849+2T>C |
single nucleotide variant |
not provided [RCV001387797] |
Chr11:77157394 [GRCh38] Chr11:76868440 [GRCh37] Chr11:11q13.5 |
pathogenic |
NM_000260.4(MYO7A):c.5301G>A (p.Ser1767=) |
single nucleotide variant |
not provided [RCV001445418] |
Chr11:77203192 [GRCh38] Chr11:76914237 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.5853C>T (p.Asp1951=) |
single nucleotide variant |
not provided [RCV001416409] |
Chr11:77207399 [GRCh38] Chr11:76918444 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.3540C>T (p.Thr1180=) |
single nucleotide variant |
not provided [RCV001440501] |
Chr11:77189380 [GRCh38] Chr11:76900425 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.850-81T>C |
single nucleotide variant |
not provided [RCV001535360] |
Chr11:77158196 [GRCh38] Chr11:76869242 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.5808C>G (p.Leu1936=) |
single nucleotide variant |
not provided [RCV001401748] |
Chr11:77207354 [GRCh38] Chr11:76918399 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.3925-6C>T |
single nucleotide variant |
not provided [RCV001419634] |
Chr11:77192045 [GRCh38] Chr11:76903090 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.4794A>G (p.Leu1598=) |
single nucleotide variant |
not provided [RCV001439180] |
Chr11:77199760 [GRCh38] Chr11:76910805 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.2403C>T (p.His801=) |
single nucleotide variant |
not provided [RCV001429805] |
Chr11:77179770 [GRCh38] Chr11:76890816 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.753C>T (p.Asn251=) |
single nucleotide variant |
not provided [RCV001408928] |
Chr11:77157296 [GRCh38] Chr11:76868342 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.3714G>A (p.Gly1238=) |
single nucleotide variant |
not provided [RCV001408947] |
Chr11:77190103 [GRCh38] Chr11:76901148 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.720A>G (p.Ser240=) |
single nucleotide variant |
not provided [RCV001448151] |
Chr11:77156989 [GRCh38] Chr11:76868035 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.5946A>G (p.Gly1982=) |
single nucleotide variant |
not provided [RCV001448162] |
Chr11:77208698 [GRCh38] Chr11:76919743 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.733C>T (p.Gln245Ter) |
single nucleotide variant |
Nonsyndromic genetic hearing loss [RCV001544527]|not provided [RCV001387071] |
Chr11:77157002 [GRCh38] Chr11:76868048 [GRCh37] Chr11:11q13.5 |
pathogenic |
NM_000260.4(MYO7A):c.6021C>T (p.Pro2007=) |
single nucleotide variant |
not provided [RCV001429821] |
Chr11:77208773 [GRCh38] Chr11:76919818 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.4153-4C>A |
single nucleotide variant |
not provided [RCV001404292] |
Chr11:77194350 [GRCh38] Chr11:76905395 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.1798-8C>T |
single nucleotide variant |
not provided [RCV001404293] |
Chr11:77172740 [GRCh38] Chr11:76883786 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.2925G>A (p.Arg975=) |
single nucleotide variant |
not provided [RCV001432195] |
Chr11:77181971 [GRCh38] Chr11:76893017 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.3942C>T (p.Ser1314=) |
single nucleotide variant |
not provided [RCV001424442] |
Chr11:77192068 [GRCh38] Chr11:76903113 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.168C>T (p.Ile56=) |
single nucleotide variant |
not provided [RCV001400470] |
Chr11:77147833 [GRCh38] Chr11:76858879 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.4077G>A (p.Glu1359=) |
single nucleotide variant |
not provided [RCV001403021] |
Chr11:77192203 [GRCh38] Chr11:76903248 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.1404C>T (p.His468=) |
single nucleotide variant |
not provided [RCV001435567] |
Chr11:77162180 [GRCh38] Chr11:76873226 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.5199C>G (p.Val1733=) |
single nucleotide variant |
not provided [RCV001394276] |
Chr11:77203090 [GRCh38] Chr11:76914135 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.2722del (p.Asp908fs) |
deletion |
not provided [RCV001382109] |
Chr11:77181406 [GRCh38] Chr11:76892452 [GRCh37] Chr11:11q13.5 |
pathogenic |
NM_000260.4(MYO7A):c.5976C>T (p.Phe1992=) |
single nucleotide variant |
not provided [RCV001432418] |
Chr11:77208728 [GRCh38] Chr11:76919773 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.285+10_285+24del |
deletion |
not provided [RCV001443386] |
Chr11:77147955..77147969 [GRCh38] Chr11:76859001..76859015 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.3925-18_3925-5del |
deletion |
not provided [RCV001432505] |
Chr11:77192030..77192043 [GRCh38] Chr11:76903075..76903088 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.5326+9G>A |
single nucleotide variant |
not provided [RCV001409332] |
Chr11:77203226 [GRCh38] Chr11:76914271 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.5226C>T (p.Asp1742=) |
single nucleotide variant |
not provided [RCV001448573] |
Chr11:77203117 [GRCh38] Chr11:76914162 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.1143G>A (p.Thr381=) |
single nucleotide variant |
not provided [RCV001481949] |
Chr11:77160225 [GRCh38] Chr11:76871271 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.4089C>T (p.Ala1363=) |
single nucleotide variant |
not provided [RCV001472591] |
Chr11:77192215 [GRCh38] Chr11:76903260 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.2905-158T>G |
single nucleotide variant |
not provided [RCV001539743] |
Chr11:77181793 [GRCh38] Chr11:76892839 [GRCh37] Chr11:11q13.5 |
benign |
NM_000260.4(MYO7A):c.1004-36T>C |
single nucleotide variant |
not provided [RCV001540291] |
Chr11:77159411 [GRCh38] Chr11:76870457 [GRCh37] Chr11:11q13.5 |
benign |
NM_000260.4(MYO7A):c.3267C>G (p.Ala1089=) |
single nucleotide variant |
not provided [RCV001498653] |
Chr11:77182582 [GRCh38] Chr11:76893627 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.4017C>T (p.Asn1339=) |
single nucleotide variant |
not provided [RCV001457030] |
Chr11:77192143 [GRCh38] Chr11:76903188 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.5793C>T (p.Ile1931=) |
single nucleotide variant |
not provided [RCV001481614] |
Chr11:77207339 [GRCh38] Chr11:76918384 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.3261G>A (p.Leu1087=) |
single nucleotide variant |
not provided [RCV001457107] |
Chr11:77182576 [GRCh38] Chr11:76893621 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.2084C>G (p.Ala695Gly) |
single nucleotide variant |
Usher syndrome type 1B [RCV001836460]|not provided [RCV001583570] |
Chr11:77174904 [GRCh38] Chr11:76885950 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.2904+142G>A |
single nucleotide variant |
not provided [RCV001617179] |
Chr11:77181731 [GRCh38] Chr11:76892777 [GRCh37] Chr11:11q13.5 |
benign |
NM_000260.4(MYO7A):c.1245C>T (p.Asn415=) |
single nucleotide variant |
not provided [RCV001457548] |
Chr11:77161017 [GRCh38] Chr11:76872063 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.4441+88_4441+89insCGCTCCCAGTCCCTTGCTCTGTAGCTCCAGCCCACAGCCTACAAATTCTCAGGTACCCCGCAGCCTGCAA |
insertion |
not provided [RCV001468530] |
Chr11:77197617..77197618 [GRCh38] Chr11:76908662..76908663 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.4713G>A (p.Thr1571=) |
single nucleotide variant |
Usher syndrome type 1B [RCV001826297]|not provided [RCV001468586] |
Chr11:77199679 [GRCh38] Chr11:76910724 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.4153-4C>T |
single nucleotide variant |
not provided [RCV001454098] |
Chr11:77194350 [GRCh38] Chr11:76905395 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.1407G>A (p.Val469=) |
single nucleotide variant |
not provided [RCV001457163] |
Chr11:77162183 [GRCh38] Chr11:76873229 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.2905-179_2905-173del |
deletion |
not provided [RCV001655353] |
Chr11:77181768..77181774 [GRCh38] Chr11:76892814..76892820 [GRCh37] Chr11:11q13.5 |
benign |
NM_000260.4(MYO7A):c.5040T>A (p.Ile1680=) |
single nucleotide variant |
not provided [RCV001457638] |
Chr11:77201635 [GRCh38] Chr11:76912680 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.1740_1747del (p.Val581fs) |
deletion |
Autosomal recessive nonsyndromic hearing loss 2 [RCV002449398]|not provided [RCV001682647] |
Chr11:77166103..77166110 [GRCh38] Chr11:76877149..76877156 [GRCh37] Chr11:11q13.5 |
pathogenic|likely pathogenic |
NM_000260.4(MYO7A):c.393C>G (p.Pro131=) |
single nucleotide variant |
not provided [RCV001472970] |
Chr11:77156014 [GRCh38] Chr11:76867060 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.1798-5C>T |
single nucleotide variant |
not provided [RCV001494977] |
Chr11:77172743 [GRCh38] Chr11:76883789 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.6531G>C (p.Gly2177=) |
single nucleotide variant |
not provided [RCV001502056] |
Chr11:77213952 [GRCh38] Chr11:76924997 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.873C>T (p.Gly291=) |
single nucleotide variant |
not provided [RCV001461856] |
Chr11:77158300 [GRCh38] Chr11:76869346 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.5044-8G>T |
single nucleotide variant |
not provided [RCV001450914] |
Chr11:77202292 [GRCh38] Chr11:76913337 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.5743-10C>T |
single nucleotide variant |
not provided [RCV001502945] |
Chr11:77207279 [GRCh38] Chr11:76918324 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.5480+20C>T |
single nucleotide variant |
not provided [RCV001509947] |
Chr11:77204249 [GRCh38] Chr11:76915294 [GRCh37] Chr11:11q13.5 |
benign |
NM_000260.4(MYO7A):c.1343+13del |
deletion |
not provided [RCV001516063] |
Chr11:77161125 [GRCh38] Chr11:76872171 [GRCh37] Chr11:11q13.5 |
benign |
NM_000260.4(MYO7A):c.5324T>A (p.Ile1775Asn) |
single nucleotide variant |
Usher syndrome type 1B [RCV001832823]|not provided [RCV001592719] |
Chr11:77203215 [GRCh38] Chr11:76914260 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.2701C>T (p.Leu901=) |
single nucleotide variant |
not provided [RCV001458870] |
Chr11:77181386 [GRCh38] Chr11:76892432 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.3114C>G (p.Ala1038=) |
single nucleotide variant |
not provided [RCV001506805] |
Chr11:77182429 [GRCh38] Chr11:76893474 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.3042G>A (p.Thr1014=) |
single nucleotide variant |
not provided [RCV001458507] |
Chr11:77182088 [GRCh38] Chr11:76893134 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.1797+8G>T |
single nucleotide variant |
not provided [RCV001457976] |
Chr11:77166170 [GRCh38] Chr11:76877216 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.2367+82C>A |
single nucleotide variant |
not provided [RCV001586635] |
Chr11:77179211 [GRCh38] Chr11:76890257 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.2268G>T (p.Arg756=) |
single nucleotide variant |
not provided [RCV001476280] |
Chr11:77177629 [GRCh38] Chr11:76888675 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.6123C>T (p.Ile2041=) |
single nucleotide variant |
not provided [RCV001455221] |
Chr11:77211223 [GRCh38] Chr11:76922268 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.3285+108C>T |
single nucleotide variant |
not provided [RCV001588684] |
Chr11:77182708 [GRCh38] Chr11:76893753 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.6558+7G>A |
single nucleotide variant |
not provided [RCV001496746] |
Chr11:77213986 [GRCh38] Chr11:76925031 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.6052-9C>T |
single nucleotide variant |
not provided [RCV001465971] |
Chr11:77211143 [GRCh38] Chr11:76922188 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.192C>T (p.Val64=) |
single nucleotide variant |
not provided [RCV001465994] |
Chr11:77147857 [GRCh38] Chr11:76858903 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.6051+10T>C |
single nucleotide variant |
not provided [RCV001452148] |
Chr11:77208813 [GRCh38] Chr11:76919858 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.5327-173A>G |
single nucleotide variant |
not provided [RCV001713744] |
Chr11:77203903 [GRCh38] Chr11:76914948 [GRCh37] Chr11:11q13.5 |
benign |
NM_000260.4(MYO7A):c.4290G>A (p.Lys1430=) |
single nucleotide variant |
not provided [RCV001476752] |
Chr11:77194491 [GRCh38] Chr11:76905536 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.2958G>C (p.Leu986=) |
single nucleotide variant |
not provided [RCV001462832] |
Chr11:77182004 [GRCh38] Chr11:76893050 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.1620C>T (p.Pro540=) |
single nucleotide variant |
not provided [RCV001455718] |
Chr11:77162918 [GRCh38] Chr11:76873964 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.3907A>G (p.Ile1303Val) |
single nucleotide variant |
not provided [RCV001483465] |
Chr11:77190853 [GRCh38] Chr11:76901898 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.1887G>A (p.Gln629=) |
single nucleotide variant |
not provided [RCV001496929] |
Chr11:77172837 [GRCh38] Chr11:76883883 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.6559-280A>G |
single nucleotide variant |
not provided [RCV001695792] |
Chr11:77214327 [GRCh38] Chr11:76925372 [GRCh37] Chr11:11q13.5 |
benign |
NM_000260.4(MYO7A):c.4878C>T (p.Ser1626=) |
single nucleotide variant |
not provided [RCV001497287] |
Chr11:77201473 [GRCh38] Chr11:76912518 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.5775G>A (p.Lys1925=) |
single nucleotide variant |
not provided [RCV001503889] |
Chr11:77207321 [GRCh38] Chr11:76918366 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.6033C>T (p.Ser2011=) |
single nucleotide variant |
not provided [RCV001466447] |
Chr11:77208785 [GRCh38] Chr11:76919830 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.834C>T (p.Tyr278=) |
single nucleotide variant |
not provided [RCV001497307] |
Chr11:77157377 [GRCh38] Chr11:76868423 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.5481-6C>T |
single nucleotide variant |
not provided [RCV001487292] |
Chr11:77205456 [GRCh38] Chr11:76916501 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.6507C>T (p.Ile2169=) |
single nucleotide variant |
not provided [RCV001487383] |
Chr11:77213928 [GRCh38] Chr11:76924973 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.3015G>A (p.Ala1005=) |
single nucleotide variant |
not provided [RCV001455711] |
Chr11:77182061 [GRCh38] Chr11:76893107 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.1344-12G>A |
single nucleotide variant |
not provided [RCV001480301] |
Chr11:77162108 [GRCh38] Chr11:76873154 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.471-73G>A |
single nucleotide variant |
not provided [RCV001587767] |
Chr11:77156587 [GRCh38] Chr11:76867633 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.2586+65C>T |
single nucleotide variant |
not provided [RCV001715627] |
Chr11:77180018 [GRCh38] Chr11:76891064 [GRCh37] Chr11:11q13.5 |
benign |
NM_000260.4(MYO7A):c.4311C>T (p.Ala1437=) |
single nucleotide variant |
not provided [RCV001480673] |
Chr11:77194512 [GRCh38] Chr11:76905557 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.1359C>T (p.Cys453=) |
single nucleotide variant |
not provided [RCV001503976] |
Chr11:77162135 [GRCh38] Chr11:76873181 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.222G>A (p.Gly74=) |
single nucleotide variant |
not provided [RCV001497405] |
Chr11:77147887 [GRCh38] Chr11:76858933 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.3615C>G (p.Ser1205=) |
single nucleotide variant |
not provided [RCV001487789] |
Chr11:77189455 [GRCh38] Chr11:76900500 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.3174C>T (p.His1058=) |
single nucleotide variant |
not provided [RCV001477130] |
Chr11:77182489 [GRCh38] Chr11:76893534 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.64G>T (p.Val22Leu) |
single nucleotide variant |
Usher syndrome type 1B [RCV001832770]|not provided [RCV001565152] |
Chr11:77142754 [GRCh38] Chr11:76853800 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.4269G>A (p.Thr1423=) |
single nucleotide variant |
not provided [RCV001497651] |
Chr11:77194470 [GRCh38] Chr11:76905515 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.4443C>T (p.Gly1481=) |
single nucleotide variant |
not provided [RCV001463326] |
Chr11:77198496 [GRCh38] Chr11:76909541 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.4711A>T (p.Thr1571Ser) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 2 [RCV001580739] |
Chr11:77199677 [GRCh38] Chr11:76910722 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.5327-425G>C |
single nucleotide variant |
not provided [RCV001616504] |
Chr11:77203651 [GRCh38] Chr11:76914696 [GRCh37] Chr11:11q13.5 |
benign |
NM_000260.4(MYO7A):c.2523C>T (p.Leu841=) |
single nucleotide variant |
not provided [RCV001477988] |
Chr11:77179890 [GRCh38] Chr11:76890936 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.3123C>G (p.Val1041=) |
single nucleotide variant |
not provided [RCV001463764] |
Chr11:77182438 [GRCh38] Chr11:76893483 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.2937G>A (p.Glu979=) |
single nucleotide variant |
not provided [RCV001460530] |
Chr11:77181983 [GRCh38] Chr11:76893029 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.2040G>A (p.Glu680=) |
single nucleotide variant |
not provided [RCV001456263] |
Chr11:77174860 [GRCh38] Chr11:76885906 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.-46-2A>G |
single nucleotide variant |
Usher syndrome type 1B [RCV001832814]|not provided [RCV001585450] |
Chr11:77130587 [GRCh38] Chr11:76841633 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.4153-9C>T |
single nucleotide variant |
not provided [RCV001498286] |
Chr11:77194345 [GRCh38] Chr11:76905390 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.5944+12G>A |
single nucleotide variant |
not provided [RCV001478241] |
Chr11:77208529 [GRCh38] Chr11:76919574 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.6645G>A (p.Lys2215=) |
single nucleotide variant |
not provided [RCV001481144] |
Chr11:77214693 [GRCh38] Chr11:76925738 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.2142C>G (p.Gly714=) |
single nucleotide variant |
not provided [RCV001467279] |
Chr11:77175419 [GRCh38] Chr11:76886465 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.375G>A (p.Lys125=) |
single nucleotide variant |
not provided [RCV001504783] |
Chr11:77155996 [GRCh38] Chr11:76867042 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.3924+31_3924+46del |
microsatellite |
Usher syndrome type 1B [RCV001836431]|not provided [RCV001513904] |
Chr11:77190880..77190895 [GRCh38] Chr11:76901925..76901940 [GRCh37] Chr11:11q13.5 |
benign |
NM_000260.4(MYO7A):c.5268G>A (p.Leu1756=) |
single nucleotide variant |
not provided [RCV001498543] |
Chr11:77203159 [GRCh38] Chr11:76914204 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.849+328G>A |
single nucleotide variant |
not provided [RCV001685602] |
Chr11:77157720 [GRCh38] Chr11:76868766 [GRCh37] Chr11:11q13.5 |
benign |
NM_000260.4(MYO7A):c.6438+57C>T |
single nucleotide variant |
not provided [RCV001592346] |
Chr11:77213092 [GRCh38] Chr11:76924137 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.1374T>C (p.Asn458=) |
single nucleotide variant |
not provided [RCV001472160] |
Chr11:77162150 [GRCh38] Chr11:76873196 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.3828G>T (p.Ser1276=) |
single nucleotide variant |
not provided [RCV001472163] |
Chr11:77190774 [GRCh38] Chr11:76901819 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.1003+9G>A |
single nucleotide variant |
not provided [RCV001489880] |
Chr11:77158439 [GRCh38] Chr11:76869485 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.3768G>A (p.Lys1256=) |
single nucleotide variant |
not provided [RCV001489944] |
Chr11:77190714 [GRCh38] Chr11:76901759 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.6207C>T (p.Ile2069=) |
single nucleotide variant |
not provided [RCV001472686] |
Chr11:77211307 [GRCh38] Chr11:76922352 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.2907C>T (p.Asp969=) |
single nucleotide variant |
not provided [RCV001435565] |
Chr11:77181953 [GRCh38] Chr11:76892999 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.3955G>A (p.Val1319Ile) |
single nucleotide variant |
not provided [RCV001431054] |
Chr11:77192081 [GRCh38] Chr11:76903126 [GRCh37] Chr11:11q13.5 |
likely benign|conflicting interpretations of pathogenicity |
NM_000260.4(MYO7A):c.5636+7C>T |
single nucleotide variant |
not provided [RCV001450775] |
Chr11:77205624 [GRCh38] Chr11:76916669 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.564G>A (p.Gln188=) |
single nucleotide variant |
not provided [RCV001495597] |
Chr11:77156753 [GRCh38] Chr11:76867799 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.6333C>T (p.Gly2111=) |
single nucleotide variant |
not provided [RCV001462425] |
Chr11:77211916 [GRCh38] Chr11:76922961 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.5919A>T (p.Ile1973=) |
single nucleotide variant |
not provided [RCV001499913] |
Chr11:77208492 [GRCh38] Chr11:76919537 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.19-8G>T |
single nucleotide variant |
not provided [RCV001425024] |
Chr11:77142701 [GRCh38] Chr11:76853747 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.2094+10T>G |
single nucleotide variant |
not provided [RCV001502867] |
Chr11:77174924 [GRCh38] Chr11:76885970 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.2694+7T>C |
single nucleotide variant |
not provided [RCV001506434] |
Chr11:77180488 [GRCh38] Chr11:76891534 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.3123C>T (p.Val1041=) |
single nucleotide variant |
not provided [RCV001486779] |
Chr11:77182438 [GRCh38] Chr11:76893483 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.4629A>G (p.Ser1543=) |
single nucleotide variant |
not provided [RCV001490147] |
Chr11:77199595 [GRCh38] Chr11:76910640 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.5691C>T (p.His1897=) |
single nucleotide variant |
not provided [RCV001490306] |
Chr11:77206151 [GRCh38] Chr11:76917196 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.3924+9G>T |
single nucleotide variant |
not provided [RCV001490337] |
Chr11:77190879 [GRCh38] Chr11:76901924 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.1686C>T (p.Thr562=) |
single nucleotide variant |
not provided [RCV001431287] |
Chr11:77162984 [GRCh38] Chr11:76874030 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.4215C>T (p.Ile1405=) |
single nucleotide variant |
not provided [RCV001477607] |
Chr11:77194416 [GRCh38] Chr11:76905461 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.1959G>A (p.Val653=) |
single nucleotide variant |
not provided [RCV001499978] |
Chr11:77174779 [GRCh38] Chr11:76885825 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.1173A>G (p.Ala391=) |
single nucleotide variant |
not provided [RCV001436207] |
Chr11:77160255 [GRCh38] Chr11:76871301 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.1798-10G>A |
single nucleotide variant |
not provided [RCV001399796] |
Chr11:77172738 [GRCh38] Chr11:76883784 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.579C>T (p.Thr193=) |
single nucleotide variant |
not provided [RCV001487317] |
Chr11:77156768 [GRCh38] Chr11:76867814 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.285+10G>A |
single nucleotide variant |
not provided [RCV001495438] |
Chr11:77147960 [GRCh38] Chr11:76859006 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.5314C>T (p.Leu1772=) |
single nucleotide variant |
not provided [RCV001417322] |
Chr11:77203205 [GRCh38] Chr11:76914250 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.2865C>T (p.Gly955=) |
single nucleotide variant |
not provided [RCV001431421] |
Chr11:77181550 [GRCh38] Chr11:76892596 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.5391C>T (p.Asp1797=) |
single nucleotide variant |
not provided [RCV001405825] |
Chr11:77204140 [GRCh38] Chr11:76915185 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.4863G>A (p.Glu1621=) |
single nucleotide variant |
not provided [RCV001495932] |
Chr11:77201458 [GRCh38] Chr11:76912503 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.3834C>G (p.Thr1278=) |
single nucleotide variant |
not provided [RCV001460279] |
Chr11:77190780 [GRCh38] Chr11:76901825 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.6625C>A (p.Arg2209=) |
single nucleotide variant |
not provided [RCV001453114] |
Chr11:77214673 [GRCh38] Chr11:76925718 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.2082G>A (p.Pro694=) |
single nucleotide variant |
not provided [RCV001482924] |
Chr11:77174902 [GRCh38] Chr11:76885948 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.4257C>T (p.Asp1419=) |
single nucleotide variant |
not provided [RCV001482958] |
Chr11:77194458 [GRCh38] Chr11:76905503 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.3522G>A (p.Gln1174=) |
single nucleotide variant |
not provided [RCV001506513] |
Chr11:77189362 [GRCh38] Chr11:76900407 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.5253G>C (p.Pro1751=) |
single nucleotide variant |
not provided [RCV001506515] |
Chr11:77203144 [GRCh38] Chr11:76914189 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.5043+10C>T |
single nucleotide variant |
not provided [RCV001506528] |
Chr11:77201648 [GRCh38] Chr11:76912693 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.4442-6T>C |
single nucleotide variant |
not provided [RCV001490753] |
Chr11:77198489 [GRCh38] Chr11:76909534 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.219G>A (p.Leu73=) |
single nucleotide variant |
not provided [RCV001473551] |
Chr11:77147884 [GRCh38] Chr11:76858930 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.909C>T (p.Ser303=) |
single nucleotide variant |
not provided [RCV001498455] |
Chr11:77158336 [GRCh38] Chr11:76869382 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.6081C>T (p.His2027=) |
single nucleotide variant |
not provided [RCV001458427] |
Chr11:77211181 [GRCh38] Chr11:76922226 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.1824C>T (p.Pro608=) |
single nucleotide variant |
not provided [RCV001496048] |
Chr11:77172774 [GRCh38] Chr11:76883820 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.4575C>T (p.Cys1525=) |
single nucleotide variant |
not provided [RCV001486474] |
Chr11:77199541 [GRCh38] Chr11:76910586 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.4170G>A (p.Glu1390=) |
single nucleotide variant |
not provided [RCV001470776] |
Chr11:77194371 [GRCh38] Chr11:76905416 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.1003+20G>A |
single nucleotide variant |
not provided [RCV001477158] |
Chr11:77158450 [GRCh38] Chr11:76869496 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.1791C>T (p.Val597=) |
single nucleotide variant |
not provided [RCV001498609] |
Chr11:77166156 [GRCh38] Chr11:76877202 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.825C>T (p.Ala275=) |
single nucleotide variant |
not provided [RCV001496091] |
Chr11:77157368 [GRCh38] Chr11:76868414 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.6355-6T>C |
single nucleotide variant |
not provided [RCV001482155] |
Chr11:77212946 [GRCh38] Chr11:76923991 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.3627C>T (p.Val1209=) |
single nucleotide variant |
not provided [RCV001503324] |
Chr11:77189467 [GRCh38] Chr11:76900512 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.126A>G (p.Glu42=) |
single nucleotide variant |
not provided [RCV001504836] |
Chr11:77142816 [GRCh38] Chr11:76853862 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.1443C>T (p.Ser481=) |
single nucleotide variant |
not provided [RCV001484795] |
Chr11:77162219 [GRCh38] Chr11:76873265 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.4656G>A (p.Gly1552=) |
single nucleotide variant |
not provided [RCV001468721] |
Chr11:77199622 [GRCh38] Chr11:76910667 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.381T>C (p.Ile127=) |
single nucleotide variant |
not provided [RCV001471265] |
Chr11:77156002 [GRCh38] Chr11:76867048 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.4353C>G (p.Ala1451=) |
single nucleotide variant |
not provided [RCV001474319] |
Chr11:77197510 [GRCh38] Chr11:76908555 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.2448C>T (p.Arg816=) |
single nucleotide variant |
not provided [RCV001461259] |
Chr11:77179815 [GRCh38] Chr11:76890861 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.1717del (p.Leu573fs) |
deletion |
not provided [RCV001391055] |
Chr11:77166080 [GRCh38] Chr11:76877126 [GRCh37] Chr11:11q13.5 |
pathogenic |
NM_000260.4(MYO7A):c.3564_3570del (p.Ser1187_Tyr1188insTer) |
deletion |
not provided [RCV001391056] |
Chr11:77189404..77189410 [GRCh38] Chr11:76900449..76900455 [GRCh37] Chr11:11q13.5 |
pathogenic |
NM_000260.4(MYO7A):c.4671T>C (p.Cys1557=) |
single nucleotide variant |
not provided [RCV001442868] |
Chr11:77199637 [GRCh38] Chr11:76910682 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.345G>A (p.Ser115=) |
single nucleotide variant |
Usher syndrome type 1B [RCV001832603]|not provided [RCV001464528] |
Chr11:77155966 [GRCh38] Chr11:76867012 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.3925-4A>G |
single nucleotide variant |
not provided [RCV001471341] |
Chr11:77192047 [GRCh38] Chr11:76903092 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.6317A>C (p.Lys2106Thr) |
single nucleotide variant |
not provided [RCV001870714] |
Chr11:77211900 [GRCh38] Chr11:76922945 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.1947G>A (p.Arg649=) |
single nucleotide variant |
not provided [RCV001477490] |
Chr11:77174767 [GRCh38] Chr11:76885813 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.3042G>C (p.Thr1014=) |
single nucleotide variant |
not provided [RCV001497768] |
Chr11:77182088 [GRCh38] Chr11:76893134 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.2388G>A (p.Arg796=) |
single nucleotide variant |
not provided [RCV001497769] |
Chr11:77179755 [GRCh38] Chr11:76890801 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.1788T>C (p.Asp596=) |
single nucleotide variant |
not provided [RCV001432008] |
Chr11:77166153 [GRCh38] Chr11:76877199 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.840C>T (p.Tyr280=) |
single nucleotide variant |
not provided [RCV001498292] |
Chr11:77157383 [GRCh38] Chr11:76868429 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.244T>C (p.Leu82=) |
single nucleotide variant |
not provided [RCV001484930] |
Chr11:77147909 [GRCh38] Chr11:76858955 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.1728C>T (p.Asp576=) |
single nucleotide variant |
not provided [RCV001399882] |
Chr11:77166093 [GRCh38] Chr11:76877139 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.4521_4522del (p.Leu1508fs) |
deletion |
not provided [RCV001385400] |
Chr11:77198574..77198575 [GRCh38] Chr11:76909619..76909620 [GRCh37] Chr11:11q13.5 |
pathogenic |
NM_000260.4(MYO7A):c.4125C>T (p.Val1375=) |
single nucleotide variant |
not provided [RCV001401676] |
Chr11:77192251 [GRCh38] Chr11:76903296 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.1797+9G>A |
single nucleotide variant |
not provided [RCV001438235] |
Chr11:77166171 [GRCh38] Chr11:76877217 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.5997C>T (p.Thr1999=) |
single nucleotide variant |
not provided [RCV001404006] |
Chr11:77208749 [GRCh38] Chr11:76919794 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.2998A>C (p.Lys1000Gln) |
single nucleotide variant |
not provided [RCV001443168] |
Chr11:77182044 [GRCh38] Chr11:76893090 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.5906dup (p.Leu1969fs) |
duplication |
not provided [RCV001383683] |
Chr11:77208477..77208478 [GRCh38] Chr11:76919522..76919523 [GRCh37] Chr11:11q13.5 |
pathogenic |
NM_000260.4(MYO7A):c.3750+9GT[2] |
microsatellite |
not provided [RCV001436643] |
Chr11:77190148..77190149 [GRCh38] Chr11:76901193..76901194 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.2283-20C>T |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 11 [RCV002506602]|not provided [RCV001513580] |
Chr11:77179025 [GRCh38] Chr11:76890071 [GRCh37] Chr11:11q13.5 |
benign|likely benign |
NM_000260.4(MYO7A):c.5883C>T (p.Phe1961=) |
single nucleotide variant |
not provided [RCV001406747] |
Chr11:77208456 [GRCh38] Chr11:76919501 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.3503+1_3503+12delinsC |
indel |
not provided [RCV001378542] |
Chr11:77184716..77184727 [GRCh38] Chr11:76895761..76895772 [GRCh37] Chr11:11q13.5 |
likely pathogenic |
NM_000260.4(MYO7A):c.6498C>T (p.Tyr2166=) |
single nucleotide variant |
not provided [RCV001483462] |
Chr11:77213919 [GRCh38] Chr11:76924964 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.6204T>C (p.Leu2068=) |
single nucleotide variant |
not provided [RCV001427689] |
Chr11:77211304 [GRCh38] Chr11:76922349 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.6052-7_6052-6del |
microsatellite |
not provided [RCV001427690] |
Chr11:77211142..77211143 [GRCh38] Chr11:76922187..76922188 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.2186del (p.Lys729fs) |
deletion |
not provided [RCV001389197] |
Chr11:77175462 [GRCh38] Chr11:76886508 [GRCh37] Chr11:11q13.5 |
pathogenic |
NM_000260.4(MYO7A):c.3837G>A (p.Thr1279=) |
single nucleotide variant |
not provided [RCV001443616] |
Chr11:77190783 [GRCh38] Chr11:76901828 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.19-7C>T |
single nucleotide variant |
not provided [RCV001480604] |
Chr11:77142702 [GRCh38] Chr11:76853748 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.1146G>A (p.Val382=) |
single nucleotide variant |
not provided [RCV001393323] |
Chr11:77160228 [GRCh38] Chr11:76871274 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.4442-8C>T |
single nucleotide variant |
not provided [RCV001503830] |
Chr11:77198487 [GRCh38] Chr11:76909532 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.3813C>G (p.Thr1271=) |
single nucleotide variant |
not provided [RCV001393278] |
Chr11:77190759 [GRCh38] Chr11:76901804 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.2655C>T (p.Ser885=) |
single nucleotide variant |
not provided [RCV001496834] |
Chr11:77180442 [GRCh38] Chr11:76891488 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.2196T>C (p.His732=) |
single nucleotide variant |
not provided [RCV001459294] |
Chr11:77177557 [GRCh38] Chr11:76888603 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.5958A>G (p.Ser1986=) |
single nucleotide variant |
not provided [RCV001496919] |
Chr11:77208710 [GRCh38] Chr11:76919755 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.1812G>A (p.Arg604=) |
single nucleotide variant |
not provided [RCV001418217] |
Chr11:77172762 [GRCh38] Chr11:76883808 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.6051+9C>T |
single nucleotide variant |
not provided [RCV001485312] |
Chr11:77208812 [GRCh38] Chr11:76919857 [GRCh37] Chr11:11q13.5 |
likely benign |
NC_000011.9:g.(?_76866933)_(76908663_?)dup |
duplication |
not provided [RCV001378673] |
Chr11:76866933..76908663 [GRCh37] Chr11:11q13.5 |
likely pathogenic |
NM_000260.4(MYO7A):c.3745C>T (p.Leu1249=) |
single nucleotide variant |
not provided [RCV001425784] |
Chr11:77190134 [GRCh38] Chr11:76901179 [GRCh37] Chr11:11q13.5 |
likely benign|conflicting interpretations of pathogenicity |
NM_000260.4(MYO7A):c.3876T>C (p.Ser1292=) |
single nucleotide variant |
not provided [RCV001425857] |
Chr11:77190822 [GRCh38] Chr11:76901867 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.5044-2A>G |
single nucleotide variant |
not provided [RCV001377185] |
Chr11:77202298 [GRCh38] Chr11:76913343 [GRCh37] Chr11:11q13.5 |
likely pathogenic |
NM_000260.4(MYO7A):c.1521C>T (p.Ile507=) |
single nucleotide variant |
not provided [RCV001503998] |
Chr11:77162297 [GRCh38] Chr11:76873343 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.1134C>T (p.Arg378=) |
single nucleotide variant |
not provided [RCV001398586] |
Chr11:77160216 [GRCh38] Chr11:76871262 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.132+10C>G |
single nucleotide variant |
not provided [RCV001404824] |
Chr11:77142832 [GRCh38] Chr11:76853878 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.5326+7G>A |
single nucleotide variant |
not provided [RCV001443980] |
Chr11:77203224 [GRCh38] Chr11:76914269 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.6051+8C>T |
single nucleotide variant |
not provided [RCV001499473] |
Chr11:77208811 [GRCh38] Chr11:76919856 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.2688G>A (p.Lys896=) |
single nucleotide variant |
Usher syndrome type 1B [RCV001826279]|not provided [RCV001454832] |
Chr11:77180475 [GRCh38] Chr11:76891521 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.3663C>T (p.Pro1221=) |
single nucleotide variant |
not provided [RCV001454856] |
Chr11:77190052 [GRCh38] Chr11:76901097 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.5379C>T (p.Asn1793=) |
single nucleotide variant |
not provided [RCV001480936] |
Chr11:77204128 [GRCh38] Chr11:76915173 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.3108+10G>T |
single nucleotide variant |
not provided [RCV001485412] |
Chr11:77182164 [GRCh38] Chr11:76893210 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.1081-4C>A |
single nucleotide variant |
not provided [RCV001424469] |
Chr11:77160159 [GRCh38] Chr11:76871205 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.549G>C (p.Ser183=) |
single nucleotide variant |
not provided [RCV001401158] |
Chr11:77156738 [GRCh38] Chr11:76867784 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.1413G>A (p.Lys471=) |
single nucleotide variant |
not provided [RCV001494566] |
Chr11:77162189 [GRCh38] Chr11:76873235 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.1566C>G (p.Thr522=) |
single nucleotide variant |
not provided [RCV001481061] |
Chr11:77162864 [GRCh38] Chr11:76873910 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.4101C>T (p.Ile1367=) |
single nucleotide variant |
not provided [RCV001400929] |
Chr11:77192227 [GRCh38] Chr11:76903272 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.5169-2A>G |
single nucleotide variant |
not provided [RCV001379548] |
Chr11:77203058 [GRCh38] Chr11:76914103 [GRCh37] Chr11:11q13.5 |
likely pathogenic |
NM_000260.4(MYO7A):c.4281G>T (p.Thr1427=) |
single nucleotide variant |
not provided [RCV001472174] |
Chr11:77194482 [GRCh38] Chr11:76905527 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.1872G>T (p.Thr624=) |
single nucleotide variant |
not provided [RCV001416460] |
Chr11:77172822 [GRCh38] Chr11:76883868 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.5064C>T (p.Pro1688=) |
single nucleotide variant |
not provided [RCV001437400] |
Chr11:77202320 [GRCh38] Chr11:76913365 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.6210G>C (p.Arg2070=) |
single nucleotide variant |
not provided [RCV001402471] |
Chr11:77211310 [GRCh38] Chr11:76922355 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.2898C>T (p.Gly966=) |
single nucleotide variant |
not provided [RCV001428147] |
Chr11:77181583 [GRCh38] Chr11:76892629 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.6558+8C>T |
single nucleotide variant |
not provided [RCV001456565] |
Chr11:77213987 [GRCh38] Chr11:76925032 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.5556C>T (p.Pro1852=) |
single nucleotide variant |
not provided [RCV001457941] |
Chr11:77205537 [GRCh38] Chr11:76916582 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.1050A>G (p.Pro350=) |
single nucleotide variant |
not provided [RCV001465191] |
Chr11:77159493 [GRCh38] Chr11:76870539 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.1003+1G>A |
single nucleotide variant |
Usher syndrome type 1B [RCV001831399]|not provided [RCV001387798] |
Chr11:77158431 [GRCh38] Chr11:76869477 [GRCh37] Chr11:11q13.5 |
pathogenic |
NM_000260.4(MYO7A):c.1846C>A (p.Arg616=) |
single nucleotide variant |
not provided [RCV001497457] |
Chr11:77172796 [GRCh38] Chr11:76883842 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.3948T>C (p.Ser1316=) |
single nucleotide variant |
not provided [RCV001504385] |
Chr11:77192074 [GRCh38] Chr11:76903119 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.3245C>T (p.Thr1082Met) |
single nucleotide variant |
Usher syndrome type 1 [RCV003148992]|not provided [RCV001756264] |
Chr11:77182560 [GRCh38] Chr11:76893605 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.1004-17C>G |
single nucleotide variant |
not provided [RCV003108988] |
Chr11:77159430 [GRCh38] Chr11:76870476 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.4827G>A (p.Val1609=) |
single nucleotide variant |
Sensorineural hearing loss disorder [RCV002244298] |
Chr11:77199793 [GRCh38] Chr11:76910838 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.5938A>G (p.Lys1980Glu) |
single nucleotide variant |
not provided [RCV001755204] |
Chr11:77208511 [GRCh38] Chr11:76919556 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.6372C>T (p.Asn2124=) |
single nucleotide variant |
not provided [RCV003109164] |
Chr11:77212969 [GRCh38] Chr11:76924014 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.6276C>T (p.Ser2092=) |
single nucleotide variant |
not provided [RCV001726852] |
Chr11:77211859 [GRCh38] Chr11:76922904 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.1297A>G (p.Ile433Val) |
single nucleotide variant |
not provided [RCV003108391] |
Chr11:77161069 [GRCh38] Chr11:76872115 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.1804del (p.Glu602fs) |
deletion |
Usher syndrome type 1 [RCV002251273] |
Chr11:77172754 [GRCh38] Chr11:76883800 [GRCh37] Chr11:11q13.5 |
likely pathogenic |
NM_000260.4(MYO7A):c.6041A>G (p.His2014Arg) |
single nucleotide variant |
not provided [RCV001756574] |
Chr11:77208793 [GRCh38] Chr11:76919838 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.4207G>T (p.Glu1403Ter) |
single nucleotide variant |
Usher syndrome type 1 [RCV002245268] |
Chr11:77194408 [GRCh38] Chr11:76905453 [GRCh37] Chr11:11q13.5 |
pathogenic |
NM_000260.4(MYO7A):c.6238-1G>C |
single nucleotide variant |
Usher syndrome type 1 [RCV002245497] |
Chr11:77211820 [GRCh38] Chr11:76922865 [GRCh37] Chr11:11q13.5 |
likely pathogenic |
NM_000260.4(MYO7A):c.736-2A>T |
single nucleotide variant |
not provided [RCV001784700] |
Chr11:77157277 [GRCh38] Chr11:76868323 [GRCh37] Chr11:11q13.5 |
pathogenic |
NM_000260.4(MYO7A):c.983T>C (p.Leu328Pro) |
single nucleotide variant |
not provided [RCV001763495] |
Chr11:77158410 [GRCh38] Chr11:76869456 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.1408T>A (p.Phe470Ile) |
single nucleotide variant |
not provided [RCV001756901] |
Chr11:77162184 [GRCh38] Chr11:76873230 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NC_000011.9:g.(?_76922177)_(76925741_?)del |
deletion |
not provided [RCV003109251] |
Chr11:76922177..76925741 [GRCh37] Chr11:11q13.5 |
pathogenic |
NC_000011.9:g.(?_76867696)_(76868060_?)dup |
duplication |
not provided [RCV003109252] |
Chr11:76867696..76868060 [GRCh37] Chr11:11q13.5 |
likely pathogenic |
NC_000011.9:g.(?_76909274)_(76910667_?)del |
deletion |
not provided [RCV003109253] |
Chr11:76909274..76910667 [GRCh37] Chr11:11q13.5 |
pathogenic |
NM_000260.4(MYO7A):c.5559C>A (p.His1853Gln) |
single nucleotide variant |
not provided [RCV001763348] |
Chr11:77205540 [GRCh38] Chr11:76916585 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.4323+2T>C |
single nucleotide variant |
not provided [RCV001784701] |
Chr11:77194526 [GRCh38] Chr11:76905571 [GRCh37] Chr11:11q13.5 |
pathogenic |
NM_000260.4(MYO7A):c.1906A>G (p.Ile636Val) |
single nucleotide variant |
not provided [RCV002259447] |
Chr11:77172856 [GRCh38] Chr11:76883902 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.2915G>A (p.Arg972Gln) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 11 [RCV002225142]|not provided [RCV001761196] |
Chr11:77181961 [GRCh38] Chr11:76893007 [GRCh37] Chr11:11q13.5 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_000260.4(MYO7A):c.506A>G (p.Lys169Arg) |
single nucleotide variant |
not provided [RCV001766980] |
Chr11:77156695 [GRCh38] Chr11:76867741 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.4237G>A (p.Val1413Met) |
single nucleotide variant |
Inborn genetic diseases [RCV002540502]|not provided [RCV001763991] |
Chr11:77194438 [GRCh38] Chr11:76905483 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.2501G>T (p.Arg834Leu) |
single nucleotide variant |
not provided [RCV001760917] |
Chr11:77179868 [GRCh38] Chr11:76890914 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.3503+95C>G |
single nucleotide variant |
not provided [RCV003237480] |
Chr11:77184810 [GRCh38] Chr11:76895855 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.4658C>A (p.Pro1553His) |
single nucleotide variant |
not provided [RCV001767287] |
Chr11:77199624 [GRCh38] Chr11:76910669 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.6562dup (p.Tyr2188fs) |
duplication |
not provided [RCV001770637] |
Chr11:77214609..77214610 [GRCh38] Chr11:76925654..76925655 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.5600C>A (p.Ala1867Asp) |
single nucleotide variant |
not provided [RCV001772665] |
Chr11:77205581 [GRCh38] Chr11:76916626 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.5565del (p.Gln1855fs) |
deletion |
not provided [RCV001782489] |
Chr11:77205546 [GRCh38] Chr11:76916591 [GRCh37] Chr11:11q13.5 |
likely pathogenic |
NM_000260.4(MYO7A):c.2087A>G (p.Tyr696Cys) |
single nucleotide variant |
not provided [RCV001771362] |
Chr11:77174907 [GRCh38] Chr11:76885953 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.3140G>A (p.Arg1047His) |
single nucleotide variant |
not provided [RCV001773352] |
Chr11:77182455 [GRCh38] Chr11:76893500 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.1121C>A (p.Thr374Asn) |
single nucleotide variant |
not provided [RCV001765319] |
Chr11:77160203 [GRCh38] Chr11:76871249 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.785T>A (p.Met262Lys) |
single nucleotide variant |
not provided [RCV001771605] |
Chr11:77157328 [GRCh38] Chr11:76868374 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.4158C>A (p.Asp1386Glu) |
single nucleotide variant |
not provided [RCV001763787] |
Chr11:77194359 [GRCh38] Chr11:76905404 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.914T>C (p.Met305Thr) |
single nucleotide variant |
not provided [RCV001767668] |
Chr11:77158341 [GRCh38] Chr11:76869387 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.2542C>G (p.Arg848Gly) |
single nucleotide variant |
not provided [RCV001764003] |
Chr11:77179909 [GRCh38] Chr11:76890955 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.4462G>C (p.Asp1488His) |
single nucleotide variant |
not provided [RCV001764055] |
Chr11:77198515 [GRCh38] Chr11:76909560 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.282C>G (p.Ile94Met) |
single nucleotide variant |
not provided [RCV001767886] |
Chr11:77147947 [GRCh38] Chr11:76858993 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.3514T>A (p.Tyr1172Asn) |
single nucleotide variant |
not provided [RCV001774571] |
Chr11:77189354 [GRCh38] Chr11:76900399 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.2432G>A (p.Arg811His) |
single nucleotide variant |
not provided [RCV001773085] |
Chr11:77179799 [GRCh38] Chr11:76890845 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.3670G>A (p.Ala1224Thr) |
single nucleotide variant |
not provided [RCV001768648] |
Chr11:77190059 [GRCh38] Chr11:76901104 [GRCh37] Chr11:11q13.5 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_000260.4(MYO7A):c.2813A>G (p.Asn938Ser) |
single nucleotide variant |
not provided [RCV001767650] |
Chr11:77181498 [GRCh38] Chr11:76892544 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NC_000011.10:g.77215329C>T |
single nucleotide variant |
not provided [RCV001786301] |
Chr11:77215329 [GRCh38] Chr11:76926374 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.2731C>T (p.Arg911Trp) |
single nucleotide variant |
not provided [RCV001769090] |
Chr11:77181416 [GRCh38] Chr11:76892462 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.119A>G (p.Asp40Gly) |
single nucleotide variant |
not provided [RCV001767885] |
Chr11:77142809 [GRCh38] Chr11:76853855 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.5692A>C (p.Lys1898Gln) |
single nucleotide variant |
not provided [RCV001773416] |
Chr11:77206152 [GRCh38] Chr11:76917197 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.2101C>T (p.Leu701Phe) |
single nucleotide variant |
not provided [RCV001752016] |
Chr11:77175378 [GRCh38] Chr11:76886424 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.1400G>A (p.Arg467Gln) |
single nucleotide variant |
not provided [RCV001764940] |
Chr11:77162176 [GRCh38] Chr11:76873222 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.2102T>A (p.Leu701His) |
single nucleotide variant |
not provided [RCV001774151] |
Chr11:77175379 [GRCh38] Chr11:76886425 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.202G>A (p.Glu68Lys) |
single nucleotide variant |
not provided [RCV001752227] |
Chr11:77147867 [GRCh38] Chr11:76858913 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.1729A>G (p.Ile577Val) |
single nucleotide variant |
not provided [RCV001770616] |
Chr11:77166094 [GRCh38] Chr11:76877140 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.4388G>A (p.Arg1463His) |
single nucleotide variant |
not provided [RCV001794672] |
Chr11:77197545 [GRCh38] Chr11:76908590 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.64G>A (p.Val22Met) |
single nucleotide variant |
Inborn genetic diseases [RCV002539163]|not provided [RCV001774368] |
Chr11:77142754 [GRCh38] Chr11:76853800 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.3475G>A (p.Gly1159Ser) |
single nucleotide variant |
not provided [RCV001770787] |
Chr11:77184687 [GRCh38] Chr11:76895732 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.262C>T (p.Arg88Cys) |
single nucleotide variant |
not provided [RCV001758195] |
Chr11:77147927 [GRCh38] Chr11:76858973 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.2558_2566delinsACAGGCTGA (p.Arg853_His856delinsHisArgLeuAsn) |
indel |
not provided [RCV001769093] |
Chr11:77179925..77179933 [GRCh38] Chr11:76890971..76890979 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.4696A>T (p.Thr1566Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV002538726]|not provided [RCV001754065] |
Chr11:77199662 [GRCh38] Chr11:76910707 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.1186G>C (p.Asp396His) |
single nucleotide variant |
not provided [RCV001766888] |
Chr11:77160268 [GRCh38] Chr11:76871314 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.5737G>A (p.Asp1913Asn) |
single nucleotide variant |
not provided [RCV001765881] |
Chr11:77206197 [GRCh38] Chr11:76917242 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.2474G>A (p.Arg825His) |
single nucleotide variant |
not provided [RCV001766041] |
Chr11:77179841 [GRCh38] Chr11:76890887 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.1539G>C (p.Glu513Asp) |
single nucleotide variant |
not provided [RCV001771207] |
Chr11:77162315 [GRCh38] Chr11:76873361 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.5329G>A (p.Val1777Met) |
single nucleotide variant |
not provided [RCV001771401] |
Chr11:77204078 [GRCh38] Chr11:76915123 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.1622C>G (p.Pro541Arg) |
single nucleotide variant |
not provided [RCV001763706] |
Chr11:77162920 [GRCh38] Chr11:76873966 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.1369G>A (p.Ala457Thr) |
single nucleotide variant |
not provided [RCV001761463] |
Chr11:77162145 [GRCh38] Chr11:76873191 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.3706G>C (p.Val1236Leu) |
single nucleotide variant |
not provided [RCV001761460] |
Chr11:77190095 [GRCh38] Chr11:76901140 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.3607G>A (p.Ala1203Thr) |
single nucleotide variant |
not provided [RCV001732913] |
Chr11:77189447 [GRCh38] Chr11:76900492 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.2569C>T (p.Gln857Ter) |
single nucleotide variant |
not provided [RCV001784703] |
Chr11:77179936 [GRCh38] Chr11:76890982 [GRCh37] Chr11:11q13.5 |
pathogenic |
NM_000260.4(MYO7A):c.1879G>A (p.Ala627Thr) |
single nucleotide variant |
not provided [RCV001786611] |
Chr11:77172829 [GRCh38] Chr11:76883875 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.6269G>C (p.Gly2090Ala) |
single nucleotide variant |
not provided [RCV001758326] |
Chr11:77211852 [GRCh38] Chr11:76922897 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.5251C>A (p.Pro1751Thr) |
single nucleotide variant |
not provided [RCV001756902] |
Chr11:77203142 [GRCh38] Chr11:76914187 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.4909C>T (p.His1637Tyr) |
single nucleotide variant |
not provided [RCV001756821] |
Chr11:77201504 [GRCh38] Chr11:76912549 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.6016G>A (p.Asp2006Asn) |
single nucleotide variant |
not provided [RCV001758435] |
Chr11:77208768 [GRCh38] Chr11:76919813 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.6028G>T (p.Asp2010Tyr) |
single nucleotide variant |
Ear malformation [RCV001814338] |
Chr11:77208780 [GRCh38] Chr11:76919825 [GRCh37] Chr11:11q13.5 |
likely pathogenic |
NM_000260.4(MYO7A):c.6377del (p.Pro2126fs) |
deletion |
Usher syndrome type 1 [RCV001808270]|not provided [RCV001885288] |
Chr11:77212972 [GRCh38] Chr11:76924017 [GRCh37] Chr11:11q13.5 |
pathogenic |
NM_000260.4(MYO7A):c.4297C>T (p.Gln1433Ter) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 2 [RCV001809335] |
Chr11:77194498 [GRCh38] Chr11:76905543 [GRCh37] Chr11:11q13.5 |
pathogenic |
NM_000260.4(MYO7A):c.2557C>T (p.Arg853Cys) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 11 [RCV001808253]|not provided [RCV002541470] |
Chr11:77179924 [GRCh38] Chr11:76890970 [GRCh37] Chr11:11q13.5 |
pathogenic|likely pathogenic |
NM_000260.4(MYO7A):c.2683C>T (p.Arg895Cys) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 2 [RCV001807902]|Usher syndrome type 1 [RCV001807903]|not provided [RCV001885285]|not specified [RCV003235600] |
Chr11:77180470 [GRCh38] Chr11:76891516 [GRCh37] Chr11:11q13.5 |
likely pathogenic|uncertain significance |
NM_000260.4(MYO7A):c.5567del (p.Arg1856fs) |
deletion |
Ear malformation [RCV001814468] |
Chr11:77205548 [GRCh38] Chr11:76916593 [GRCh37] Chr11:11q13.5 |
pathogenic |
NM_000260.4(MYO7A):c.6229dup (p.Trp2077fs) |
duplication |
Usher syndrome type 1 [RCV001809336] |
Chr11:77211328..77211329 [GRCh38] Chr11:76922373..76922374 [GRCh37] Chr11:11q13.5 |
pathogenic |
NM_000260.4(MYO7A):c.5135A>G (p.Tyr1712Cys) |
single nucleotide variant |
not provided [RCV001950354] |
Chr11:77202391 [GRCh38] Chr11:76913436 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.3998del (p.Gln1333fs) |
deletion |
not provided [RCV001969741] |
Chr11:77192124 [GRCh38] Chr11:76903169 [GRCh37] Chr11:11q13.5 |
pathogenic |
NM_000260.4(MYO7A):c.5312G>C (p.Cys1771Ser) |
single nucleotide variant |
not provided [RCV001895742] |
Chr11:77203203 [GRCh38] Chr11:76914248 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NC_000011.9:g.(?_76841681)_(76841718_?)del |
deletion |
not provided [RCV001930072] |
Chr11:76841681..76841718 [GRCh37] Chr11:11q13.5 |
pathogenic |
NM_000260.4(MYO7A):c.6418C>G (p.Leu2140Val) |
single nucleotide variant |
Inborn genetic diseases [RCV003264242]|not provided [RCV001913626] |
Chr11:77213015 [GRCh38] Chr11:76924060 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.1946G>A (p.Arg649Gln) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 2 [RCV001822966] |
Chr11:77174766 [GRCh38] Chr11:76885812 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.6491del (p.Asn2164fs) |
deletion |
Autosomal recessive nonsyndromic hearing loss 2 [RCV001823216] |
Chr11:77213911 [GRCh38] Chr11:76924956 [GRCh37] Chr11:11q13.5 |
likely pathogenic |
NM_000260.4(MYO7A):c.4055C>T (p.Thr1352Met) |
single nucleotide variant |
Inborn genetic diseases [RCV002562011]|not provided [RCV001950191] |
Chr11:77192181 [GRCh38] Chr11:76903226 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.5481-6del |
deletion |
not provided [RCV001988606] |
Chr11:77205455 [GRCh38] Chr11:76916500 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.4138T>C (p.Tyr1380His) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 2 [RCV001822967]|Usher syndrome [RCV003389494] |
Chr11:77192264 [GRCh38] Chr11:76903309 [GRCh37] Chr11:11q13.5 |
likely pathogenic|uncertain significance |
NM_000260.4(MYO7A):c.6249C>G (p.Ala2083=) |
single nucleotide variant |
not provided [RCV001988289] |
Chr11:77211832 [GRCh38] Chr11:76922877 [GRCh37] Chr11:11q13.5 |
likely benign|uncertain significance |
NM_000260.4(MYO7A):c.1817G>C (p.Arg606Pro) |
single nucleotide variant |
not provided [RCV001987668] |
Chr11:77172767 [GRCh38] Chr11:76883813 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.2131dup (p.Ala711fs) |
duplication |
not provided [RCV001874846] |
Chr11:77175406..77175407 [GRCh38] Chr11:76886452..76886453 [GRCh37] Chr11:11q13.5 |
pathogenic |
NM_000260.4(MYO7A):c.1532A>G (p.Asp511Gly) |
single nucleotide variant |
not provided [RCV002045489] |
Chr11:77162308 [GRCh38] Chr11:76873354 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.6083A>C (p.Lys2028Thr) |
single nucleotide variant |
not provided [RCV001988657] |
Chr11:77211183 [GRCh38] Chr11:76922228 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.868G>T (p.Glu290Ter) |
single nucleotide variant |
not provided [RCV001874901] |
Chr11:77158295 [GRCh38] Chr11:76869341 [GRCh37] Chr11:11q13.5 |
pathogenic |
NM_000260.4(MYO7A):c.6232A>T (p.Lys2078Ter) |
single nucleotide variant |
not provided [RCV001970014] |
Chr11:77211332 [GRCh38] Chr11:76922377 [GRCh37] Chr11:11q13.5 |
pathogenic |
NM_000260.4(MYO7A):c.5210A>G (p.Lys1737Arg) |
single nucleotide variant |
not provided [RCV001874154] |
Chr11:77203101 [GRCh38] Chr11:76914146 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.3981G>C (p.Glu1327Asp) |
single nucleotide variant |
not provided [RCV002008942] |
Chr11:77192107 [GRCh38] Chr11:76903152 [GRCh37] Chr11:11q13.5 |
likely pathogenic |
NM_000260.4(MYO7A):c.5480+1G>A |
single nucleotide variant |
not provided [RCV001985961] |
Chr11:77204230 [GRCh38] Chr11:76915275 [GRCh37] Chr11:11q13.5 |
likely pathogenic |
NM_000260.4(MYO7A):c.2719G>A (p.Glu907Lys) |
single nucleotide variant |
not provided [RCV001947968] |
Chr11:77181404 [GRCh38] Chr11:76892450 [GRCh37] Chr11:11q13.5 |
likely benign|uncertain significance |
NM_000260.4(MYO7A):c.1081-3C>A |
single nucleotide variant |
not provided [RCV001914443] |
Chr11:77160160 [GRCh38] Chr11:76871206 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.6547G>A (p.Glu2183Lys) |
single nucleotide variant |
Inborn genetic diseases [RCV002563402]|not provided [RCV001968050] |
Chr11:77213968 [GRCh38] Chr11:76925013 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.2699G>A (p.Arg900His) |
single nucleotide variant |
not provided [RCV001913970] |
Chr11:77181384 [GRCh38] Chr11:76892430 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.3829del (p.Ala1277fs) |
deletion |
not provided [RCV001908634] |
Chr11:77190774 [GRCh38] Chr11:76901819 [GRCh37] Chr11:11q13.5 |
pathogenic |
NM_000260.4(MYO7A):c.4324-1G>A |
single nucleotide variant |
not provided [RCV002007950] |
Chr11:77197480 [GRCh38] Chr11:76908525 [GRCh37] Chr11:11q13.5 |
likely pathogenic |
NM_000260.4(MYO7A):c.3280G>A (p.Gly1094Ser) |
single nucleotide variant |
not provided [RCV001971151] |
Chr11:77182595 [GRCh38] Chr11:76893640 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.2348G>C (p.Cys783Ser) |
single nucleotide variant |
not provided [RCV001914653] |
Chr11:77179110 [GRCh38] Chr11:76890156 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.2036T>C (p.Val679Ala) |
single nucleotide variant |
not provided [RCV001946001] |
Chr11:77174856 [GRCh38] Chr11:76885902 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.2890C>T (p.Pro964Ser) |
single nucleotide variant |
not provided [RCV001914172] |
Chr11:77181575 [GRCh38] Chr11:76892621 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.5315T>G (p.Leu1772Arg) |
single nucleotide variant |
not provided [RCV001970948] |
Chr11:77203206 [GRCh38] Chr11:76914251 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.4249A>C (p.Ile1417Leu) |
single nucleotide variant |
not provided [RCV001927847] |
Chr11:77194450 [GRCh38] Chr11:76905495 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.3925-1G>T |
single nucleotide variant |
not provided [RCV002008102] |
Chr11:77192050 [GRCh38] Chr11:76903095 [GRCh37] Chr11:11q13.5 |
likely pathogenic |
NM_000260.4(MYO7A):c.3503+16C>T |
single nucleotide variant |
not provided [RCV001965698] |
Chr11:77184731 [GRCh38] Chr11:76895776 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.1080+1G>A |
single nucleotide variant |
not provided [RCV001982843] |
Chr11:77159524 [GRCh38] Chr11:76870570 [GRCh37] Chr11:11q13.5 |
pathogenic |
NM_000260.4(MYO7A):c.2997T>A (p.Tyr999Ter) |
single nucleotide variant |
not provided [RCV002007393] |
Chr11:77182043 [GRCh38] Chr11:76893089 [GRCh37] Chr11:11q13.5 |
pathogenic |
NM_000260.4(MYO7A):c.2348G>T (p.Cys783Phe) |
single nucleotide variant |
not provided [RCV002023972] |
Chr11:77179110 [GRCh38] Chr11:76890156 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.4312G>A (p.Ala1438Thr) |
single nucleotide variant |
not provided [RCV001984646] |
Chr11:77194513 [GRCh38] Chr11:76905558 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.3769C>A (p.Pro1257Thr) |
single nucleotide variant |
not provided [RCV001947556] |
Chr11:77190715 [GRCh38] Chr11:76901760 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.2501G>A (p.Arg834His) |
single nucleotide variant |
not provided [RCV001912853] |
Chr11:77179868 [GRCh38] Chr11:76890914 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.214C>T (p.Arg72Cys) |
single nucleotide variant |
not provided [RCV001894214] |
Chr11:77147879 [GRCh38] Chr11:76858925 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.4972C>T (p.Gln1658Ter) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 2 [RCV001822906]|Usher syndrome type 1 [RCV002307752]|not provided [RCV001882614] |
Chr11:77201567 [GRCh38] Chr11:76912612 [GRCh37] Chr11:11q13.5 |
pathogenic|likely pathogenic |
NM_000260.4(MYO7A):c.5221A>G (p.Lys1741Glu) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 11 [RCV001823549] |
Chr11:77203112 [GRCh38] Chr11:76914157 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.2573G>T (p.Arg858Leu) |
single nucleotide variant |
not provided [RCV002039444] |
Chr11:77179940 [GRCh38] Chr11:76890986 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.5194C>T (p.Arg1732Cys) |
single nucleotide variant |
not provided [RCV001912896] |
Chr11:77203085 [GRCh38] Chr11:76914130 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.2114G>A (p.Cys705Tyr) |
single nucleotide variant |
not provided [RCV002041887] |
Chr11:77175391 [GRCh38] Chr11:76886437 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.5742+7del |
deletion |
not provided [RCV002004267] |
Chr11:77206207 [GRCh38] Chr11:76917252 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.5738A>G (p.Asp1913Gly) |
single nucleotide variant |
not provided [RCV002020828] |
Chr11:77206198 [GRCh38] Chr11:76917243 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.699G>T (p.Glu233Asp) |
single nucleotide variant |
not provided [RCV001966671] |
Chr11:77156968 [GRCh38] Chr11:76868014 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.4976G>A (p.Arg1659His) |
single nucleotide variant |
not provided [RCV001945532] |
Chr11:77201571 [GRCh38] Chr11:76912616 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.6559-3C>T |
single nucleotide variant |
not provided [RCV001889858] |
Chr11:77214604 [GRCh38] Chr11:76925649 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.2786T>A (p.Met929Lys) |
single nucleotide variant |
not provided [RCV001891040] |
Chr11:77181471 [GRCh38] Chr11:76892517 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.4808A>G (p.Lys1603Arg) |
single nucleotide variant |
not provided [RCV001908729] |
Chr11:77199774 [GRCh38] Chr11:76910819 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.3542A>C (p.His1181Pro) |
single nucleotide variant |
not provided [RCV002041411] |
Chr11:77189382 [GRCh38] Chr11:76900427 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.2154C>G (p.Asp718Glu) |
single nucleotide variant |
not provided [RCV001983997] |
Chr11:77175431 [GRCh38] Chr11:76886477 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.5209A>G (p.Lys1737Glu) |
single nucleotide variant |
not provided [RCV002042870] |
Chr11:77203100 [GRCh38] Chr11:76914145 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.6237+6C>T |
single nucleotide variant |
not provided [RCV001948772] |
Chr11:77211343 [GRCh38] Chr11:76922388 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.3108+1G>A |
single nucleotide variant |
not provided [RCV002041288] |
Chr11:77182155 [GRCh38] Chr11:76893201 [GRCh37] Chr11:11q13.5 |
likely pathogenic |
NM_000260.4(MYO7A):c.3171C>G (p.Tyr1057Ter) |
single nucleotide variant |
not provided [RCV001946624] |
Chr11:77182486 [GRCh38] Chr11:76893531 [GRCh37] Chr11:11q13.5 |
pathogenic |
NM_000260.4(MYO7A):c.5252C>T (p.Pro1751Leu) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 11 [RCV002492060]|not provided [RCV001987525] |
Chr11:77203143 [GRCh38] Chr11:76914188 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NC_000011.9:g.(?_76858824)_(76869496_?)del |
deletion |
not provided [RCV001949403] |
Chr11:76858824..76869496 [GRCh37] Chr11:11q13.5 |
pathogenic |
NM_000260.4(MYO7A):c.796C>T (p.Gln266Ter) |
single nucleotide variant |
Usher syndrome type 1 [RCV002307784]|not provided [RCV001891031] |
Chr11:77157339 [GRCh38] Chr11:76868385 [GRCh37] Chr11:11q13.5 |
pathogenic|likely pathogenic |
NM_000260.4(MYO7A):c.6628G>C (p.Gly2210Arg) |
single nucleotide variant |
not provided [RCV001947803] |
Chr11:77214676 [GRCh38] Chr11:76925721 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.4837G>A (p.Asp1613Asn) |
single nucleotide variant |
not provided [RCV001986577] |
Chr11:77199803 [GRCh38] Chr11:76910848 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.575C>G (p.Ala192Gly) |
single nucleotide variant |
not provided [RCV001909947] |
Chr11:77156764 [GRCh38] Chr11:76867810 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.2855C>T (p.Thr952Ile) |
single nucleotide variant |
not provided [RCV001948497] |
Chr11:77181540 [GRCh38] Chr11:76892586 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.6625C>T (p.Arg2209Trp) |
single nucleotide variant |
not provided [RCV002004857] |
Chr11:77214673 [GRCh38] Chr11:76925718 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.5725C>G (p.Pro1909Ala) |
single nucleotide variant |
not provided [RCV001927869] |
Chr11:77206185 [GRCh38] Chr11:76917230 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.3503+6T>C |
single nucleotide variant |
not provided [RCV001913684] |
Chr11:77184721 [GRCh38] Chr11:76895766 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.1936-2A>T |
single nucleotide variant |
not provided [RCV002044007] |
Chr11:77174754 [GRCh38] Chr11:76885800 [GRCh37] Chr11:11q13.5 |
likely pathogenic |
NM_000260.4(MYO7A):c.1541G>C (p.Ser514Thr) |
single nucleotide variant |
not provided [RCV001914056] |
Chr11:77162317 [GRCh38] Chr11:76873363 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.310G>A (p.Ala104Thr) |
single nucleotide variant |
not provided [RCV002024461] |
Chr11:77155931 [GRCh38] Chr11:76866977 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.6208C>T (p.Arg2070Trp) |
single nucleotide variant |
not provided [RCV001910622] |
Chr11:77211308 [GRCh38] Chr11:76922353 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.1625A>G (p.Lys542Arg) |
single nucleotide variant |
not provided [RCV002021075] |
Chr11:77162923 [GRCh38] Chr11:76873969 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.133-18_133-17insTCCCCGCAGT |
insertion |
not provided [RCV001945831] |
Chr11:77147780..77147781 [GRCh38] Chr11:76858826..76858827 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.5043G>A (p.Val1681=) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 2 [RCV001822943] |
Chr11:77201638 [GRCh38] Chr11:76912683 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.4441+3A>C |
single nucleotide variant |
not provided [RCV001970326] |
Chr11:77197601 [GRCh38] Chr11:76908646 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.2309C>T (p.Ala770Val) |
single nucleotide variant |
not provided [RCV001889989] |
Chr11:77179071 [GRCh38] Chr11:76890117 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.5462T>G (p.Leu1821Arg) |
single nucleotide variant |
not provided [RCV001872323] |
Chr11:77204211 [GRCh38] Chr11:76915256 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.3891C>G (p.Phe1297Leu) |
single nucleotide variant |
not provided [RCV001968537] |
Chr11:77190837 [GRCh38] Chr11:76901882 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.682G>A (p.Glu228Lys) |
single nucleotide variant |
not provided [RCV002006948] |
Chr11:77156951 [GRCh38] Chr11:76867997 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.6399C>G (p.Ile2133Met) |
single nucleotide variant |
not provided [RCV001967013] |
Chr11:77212996 [GRCh38] Chr11:76924041 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.2367+1G>A |
single nucleotide variant |
not provided [RCV001968016] |
Chr11:77179130 [GRCh38] Chr11:76890176 [GRCh37] Chr11:11q13.5 |
pathogenic |
NM_000260.4(MYO7A):c.5873A>G (p.Glu1958Gly) |
single nucleotide variant |
not provided [RCV001969300] |
Chr11:77208446 [GRCh38] Chr11:76919491 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.1679A>G (p.Tyr560Cys) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 2 [RCV001822952]|Usher syndrome [RCV003389493]|Usher syndrome type 1 [RCV002290719] |
Chr11:77162977 [GRCh38] Chr11:76874023 [GRCh37] Chr11:11q13.5 |
pathogenic|likely pathogenic|uncertain significance |
NM_000260.4(MYO7A):c.6545G>C (p.Cys2182Ser) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 2 [RCV001822944] |
Chr11:77213966 [GRCh38] Chr11:76925011 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.6439-3C>T |
single nucleotide variant |
not provided [RCV001910555] |
Chr11:77213857 [GRCh38] Chr11:76924902 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.851G>T (p.Gly284Val) |
single nucleotide variant |
not provided [RCV001984638] |
Chr11:77158278 [GRCh38] Chr11:76869324 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.1081-3C>T |
single nucleotide variant |
not provided [RCV001965513] |
Chr11:77160160 [GRCh38] Chr11:76871206 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.6505A>G (p.Ile2169Val) |
single nucleotide variant |
not provided [RCV002043467] |
Chr11:77213926 [GRCh38] Chr11:76924971 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.4340G>A (p.Arg1447Lys) |
single nucleotide variant |
MYO7A-related condition [RCV003401996]|not provided [RCV002005442] |
Chr11:77197497 [GRCh38] Chr11:76908542 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.4912G>T (p.Asp1638Tyr) |
single nucleotide variant |
not provided [RCV001968759] |
Chr11:77201507 [GRCh38] Chr11:76912552 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.208A>G (p.Met70Val) |
single nucleotide variant |
not provided [RCV001927768] |
Chr11:77147873 [GRCh38] Chr11:76858919 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.133-7C>G |
single nucleotide variant |
not provided [RCV002022728] |
Chr11:77147791 [GRCh38] Chr11:76858837 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.3304C>T (p.Gln1102Ter) |
single nucleotide variant |
not provided [RCV001911040] |
Chr11:77183086 [GRCh38] Chr11:76894131 [GRCh37] Chr11:11q13.5 |
pathogenic |
NM_000260.4(MYO7A):c.4280C>G (p.Thr1427Arg) |
single nucleotide variant |
not provided [RCV001984499] |
Chr11:77194481 [GRCh38] Chr11:76905526 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.1918G>T (p.Glu640Ter) |
single nucleotide variant |
not provided [RCV001910678] |
Chr11:77172868 [GRCh38] Chr11:76883914 [GRCh37] Chr11:11q13.5 |
pathogenic |
NM_000260.4(MYO7A):c.2698C>T (p.Arg900Cys) |
single nucleotide variant |
not provided [RCV001909916] |
Chr11:77181383 [GRCh38] Chr11:76892429 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.2940G>T (p.Glu980Asp) |
single nucleotide variant |
not provided [RCV002002071] |
Chr11:77181986 [GRCh38] Chr11:76893032 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.3589C>G (p.Leu1197Val) |
single nucleotide variant |
not provided [RCV001908205] |
Chr11:77189429 [GRCh38] Chr11:76900474 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NC_000011.10:g.77215295A>G |
single nucleotide variant |
not provided [RCV001840928] |
Chr11:77215295 [GRCh38] Chr11:76926340 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.6043T>C (p.Tyr2015His) |
single nucleotide variant |
not provided [RCV001984277] |
Chr11:77208795 [GRCh38] Chr11:76919840 [GRCh37] Chr11:11q13.5 |
pathogenic|likely pathogenic |
NM_000260.4(MYO7A):c.6325A>C (p.Thr2109Pro) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 2 [RCV002051751] |
Chr11:77211908 [GRCh38] Chr11:76922953 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.1091dup (p.Asp365fs) |
duplication |
Autosomal recessive nonsyndromic hearing loss 2 [RCV001823235]|not provided [RCV002568954] |
Chr11:77160167..77160168 [GRCh38] Chr11:76871213..76871214 [GRCh37] Chr11:11q13.5 |
pathogenic |
NM_000260.4(MYO7A):c.1765A>C (p.Ile589Leu) |
single nucleotide variant |
not provided [RCV001942676] |
Chr11:77166130 [GRCh38] Chr11:76877176 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.5374_5380dup (p.Glu1794fs) |
duplication |
not provided [RCV002037866] |
Chr11:77204122..77204123 [GRCh38] Chr11:76915167..76915168 [GRCh37] Chr11:11q13.5 |
pathogenic |
NM_000260.4(MYO7A):c.5523G>A (p.Thr1841=) |
single nucleotide variant |
not provided [RCV001906736] |
Chr11:77205504 [GRCh38] Chr11:76916549 [GRCh37] Chr11:11q13.5 |
likely benign|uncertain significance |
NM_000260.4(MYO7A):c.2219G>A (p.Arg740Gln) |
single nucleotide variant |
not provided [RCV002030916] |
Chr11:77177580 [GRCh38] Chr11:76888626 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.338T>C (p.Ile113Thr) |
single nucleotide variant |
not provided [RCV002000406]|not specified [RCV003479383] |
Chr11:77155959 [GRCh38] Chr11:76867005 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.3665G>A (p.Gly1222Asp) |
single nucleotide variant |
not provided [RCV001888578] |
Chr11:77190054 [GRCh38] Chr11:76901099 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.4477G>A (p.Val1493Ile) |
single nucleotide variant |
not provided [RCV002104302] |
Chr11:77198530 [GRCh38] Chr11:76909575 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.6559-13C>G |
single nucleotide variant |
not provided [RCV001962497] |
Chr11:77214594 [GRCh38] Chr11:76925639 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.1829_1832dup (p.Ser611_Ser612insTer) |
duplication |
not provided [RCV001962515] |
Chr11:77172778..77172779 [GRCh38] Chr11:76883824..76883825 [GRCh37] Chr11:11q13.5 |
pathogenic |
NM_000260.4(MYO7A):c.5072G>A (p.Arg1691Lys) |
single nucleotide variant |
not provided [RCV002011897] |
Chr11:77202328 [GRCh38] Chr11:76913373 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.4550T>A (p.Met1517Lys) |
single nucleotide variant |
not provided [RCV001887343] |
Chr11:77198603 [GRCh38] Chr11:76909648 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.2035dup (p.Val679fs) |
duplication |
not provided [RCV001941961] |
Chr11:77174854..77174855 [GRCh38] Chr11:76885900..76885901 [GRCh37] Chr11:11q13.5 |
pathogenic |
NM_000260.4(MYO7A):c.271G>T (p.Asp91Tyr) |
single nucleotide variant |
not provided [RCV001997910] |
Chr11:77147936 [GRCh38] Chr11:76858982 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.5480+2T>A |
single nucleotide variant |
not provided [RCV002018525] |
Chr11:77204231 [GRCh38] Chr11:76915276 [GRCh37] Chr11:11q13.5 |
likely pathogenic |
NM_000260.4(MYO7A):c.3053C>G (p.Thr1018Ser) |
single nucleotide variant |
not provided [RCV001999654] |
Chr11:77182099 [GRCh38] Chr11:76893145 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.2709G>T (p.Gln903His) |
single nucleotide variant |
not provided [RCV002029850] |
Chr11:77181394 [GRCh38] Chr11:76892440 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.1359C>A (p.Cys453Ter) |
single nucleotide variant |
not provided [RCV001935423] |
Chr11:77162135 [GRCh38] Chr11:76873181 [GRCh37] Chr11:11q13.5 |
pathogenic |
NM_000260.4(MYO7A):c.2945T>C (p.Leu982Pro) |
single nucleotide variant |
not provided [RCV001884171] |
Chr11:77181991 [GRCh38] Chr11:76893037 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.358del (p.Arg120fs) |
deletion |
not provided [RCV002037731] |
Chr11:77155978 [GRCh38] Chr11:76867024 [GRCh37] Chr11:11q13.5 |
pathogenic |
NM_000260.4(MYO7A):c.5480+2T>C |
single nucleotide variant |
not provided [RCV002000824] |
Chr11:77204231 [GRCh38] Chr11:76915276 [GRCh37] Chr11:11q13.5 |
likely pathogenic |
NM_000260.4(MYO7A):c.5074C>T (p.Gln1692Ter) |
single nucleotide variant |
not provided [RCV001962973] |
Chr11:77202330 [GRCh38] Chr11:76913375 [GRCh37] Chr11:11q13.5 |
pathogenic |
NM_000260.4(MYO7A):c.1506G>T (p.Lys502Asn) |
single nucleotide variant |
not provided [RCV002047168] |
Chr11:77162282 [GRCh38] Chr11:76873328 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.4943G>A (p.Trp1648Ter) |
single nucleotide variant |
not provided [RCV001941966] |
Chr11:77201538 [GRCh38] Chr11:76912583 [GRCh37] Chr11:11q13.5 |
pathogenic |
NM_000260.4(MYO7A):c.1935+1G>A |
single nucleotide variant |
not provided [RCV002037800] |
Chr11:77172886 [GRCh38] Chr11:76883932 [GRCh37] Chr11:11q13.5 |
pathogenic |
NM_000260.4(MYO7A):c.1025A>T (p.Asp342Val) |
single nucleotide variant |
not provided [RCV001888577] |
Chr11:77159468 [GRCh38] Chr11:76870514 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.2875C>T (p.Gln959Ter) |
single nucleotide variant |
not provided [RCV001905733] |
Chr11:77181560 [GRCh38] Chr11:76892606 [GRCh37] Chr11:11q13.5 |
pathogenic |
NM_000260.4(MYO7A):c.2543G>A (p.Arg848Gln) |
single nucleotide variant |
not provided [RCV001962590] |
Chr11:77179910 [GRCh38] Chr11:76890956 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.1637A>G (p.Glu546Gly) |
single nucleotide variant |
not provided [RCV002051490] |
Chr11:77162935 [GRCh38] Chr11:76873981 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.2937G>C (p.Glu979Asp) |
single nucleotide variant |
not provided [RCV001963517] |
Chr11:77181983 [GRCh38] Chr11:76893029 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.4441+54_4441+55insACCTACAAATTCTCAGGTACCCCGCAGCCTGCAATGCTCCCAGTCCCTTGCTCTGTAGCTCCAGCCCACA |
insertion |
not provided [RCV002039158] |
Chr11:77197583..77197584 [GRCh38] Chr11:76908628..76908629 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.1222G>A (p.Val408Met) |
single nucleotide variant |
not provided [RCV002039172] |
Chr11:77160994 [GRCh38] Chr11:76872040 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.2445G>T (p.Gln815His) |
single nucleotide variant |
not provided [RCV001937752] |
Chr11:77179812 [GRCh38] Chr11:76890858 [GRCh37] Chr11:11q13.5 |
likely benign|uncertain significance |
NM_000260.4(MYO7A):c.3285+7C>T |
single nucleotide variant |
not provided [RCV001924845] |
Chr11:77182607 [GRCh38] Chr11:76893652 [GRCh37] Chr11:11q13.5 |
likely benign|uncertain significance |
NM_000260.4(MYO7A):c.2441G>A (p.Arg814His) |
single nucleotide variant |
not provided [RCV001886977] |
Chr11:77179808 [GRCh38] Chr11:76890854 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.1227G>A (p.Trp409Ter) |
single nucleotide variant |
not provided [RCV002037903] |
Chr11:77160999 [GRCh38] Chr11:76872045 [GRCh37] Chr11:11q13.5 |
pathogenic |
NM_000260.4(MYO7A):c.849+1G>C |
single nucleotide variant |
not provided [RCV002037905] |
Chr11:77157393 [GRCh38] Chr11:76868439 [GRCh37] Chr11:11q13.5 |
pathogenic |
NM_000260.4(MYO7A):c.2513G>A (p.Trp838Ter) |
single nucleotide variant |
MYO7A-related condition [RCV003408007]|not provided [RCV002000060] |
Chr11:77179880 [GRCh38] Chr11:76890926 [GRCh37] Chr11:11q13.5 |
pathogenic |
NM_000260.4(MYO7A):c.905G>T (p.Arg302Leu) |
single nucleotide variant |
not provided [RCV001906188] |
Chr11:77158332 [GRCh38] Chr11:76869378 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.111G>C (p.Gln37His) |
single nucleotide variant |
not provided [RCV002018664] |
Chr11:77142801 [GRCh38] Chr11:76853847 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.6223G>A (p.Asp2075Asn) |
single nucleotide variant |
not provided [RCV002036863] |
Chr11:77211323 [GRCh38] Chr11:76922368 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.6228_6232del (p.Asp2076fs) |
deletion |
not provided [RCV001942114] |
Chr11:77211326..77211330 [GRCh38] Chr11:76922371..76922375 [GRCh37] Chr11:11q13.5 |
pathogenic |
NM_000260.4(MYO7A):c.2104C>T (p.Arg702Cys) |
single nucleotide variant |
not provided [RCV001925587] |
Chr11:77175381 [GRCh38] Chr11:76886427 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.5962A>G (p.Thr1988Ala) |
single nucleotide variant |
not provided [RCV002050329] |
Chr11:77208714 [GRCh38] Chr11:76919759 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.2815C>T (p.His939Tyr) |
single nucleotide variant |
not provided [RCV001887542] |
Chr11:77181500 [GRCh38] Chr11:76892546 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.3979G>C (p.Glu1327Gln) |
single nucleotide variant |
not provided [RCV002038400] |
Chr11:77192105 [GRCh38] Chr11:76903150 [GRCh37] Chr11:11q13.5 |
likely pathogenic |
NM_000260.4(MYO7A):c.5533C>T (p.Pro1845Ser) |
single nucleotide variant |
not provided [RCV001941104] |
Chr11:77205514 [GRCh38] Chr11:76916559 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.4891_4892del (p.Asp1631fs) |
microsatellite |
not provided [RCV001942217] |
Chr11:77201484..77201485 [GRCh38] Chr11:76912529..76912530 [GRCh37] Chr11:11q13.5 |
pathogenic |
NM_000260.4(MYO7A):c.6368del (p.Pro2123fs) |
deletion |
not provided [RCV001951565] |
Chr11:77212964 [GRCh38] Chr11:76924009 [GRCh37] Chr11:11q13.5 |
pathogenic |
NM_000260.4(MYO7A):c.5921A>G (p.Lys1974Arg) |
single nucleotide variant |
not provided [RCV001917694] |
Chr11:77208494 [GRCh38] Chr11:76919539 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.598G>T (p.Gly200Trp) |
single nucleotide variant |
not provided [RCV002015511] |
Chr11:77156867 [GRCh38] Chr11:76867913 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.4462G>A (p.Asp1488Asn) |
single nucleotide variant |
not provided [RCV002031461] |
Chr11:77198515 [GRCh38] Chr11:76909560 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.3803C>A (p.Thr1268Asn) |
single nucleotide variant |
not provided [RCV001996193] |
Chr11:77190749 [GRCh38] Chr11:76901794 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.6412del (p.Val2138fs) |
deletion |
not provided [RCV001932348] |
Chr11:77213006 [GRCh38] Chr11:76924051 [GRCh37] Chr11:11q13.5 |
pathogenic |
NM_000260.4(MYO7A):c.795_799dup (p.Lys267fs) |
duplication |
not provided [RCV002014484] |
Chr11:77157335..77157336 [GRCh38] Chr11:76868381..76868382 [GRCh37] Chr11:11q13.5 |
pathogenic |
NC_000011.9:g.(?_76853735)_(76877228_?)del |
deletion |
not provided [RCV001975236] |
Chr11:76853735..76877228 [GRCh37] Chr11:11q13.5 |
pathogenic |
NM_000260.4(MYO7A):c.4031T>C (p.Leu1344Pro) |
single nucleotide variant |
not provided [RCV002015050] |
Chr11:77192157 [GRCh38] Chr11:76903202 [GRCh37] Chr11:11q13.5 |
pathogenic|likely pathogenic |
NM_000260.4(MYO7A):c.2164G>A (p.Gly722Ser) |
single nucleotide variant |
not provided [RCV002014577] |
Chr11:77175441 [GRCh38] Chr11:76886487 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.5576del (p.Gln1859fs) |
deletion |
not provided [RCV001955977] |
Chr11:77205557 [GRCh38] Chr11:76916602 [GRCh37] Chr11:11q13.5 |
pathogenic |
NM_000260.4(MYO7A):c.1867C>T (p.Arg623Cys) |
single nucleotide variant |
not provided [RCV001995080] |
Chr11:77172817 [GRCh38] Chr11:76883863 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.5443G>A (p.Val1815Met) |
single nucleotide variant |
not provided [RCV001897022] |
Chr11:77204192 [GRCh38] Chr11:76915237 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.1059_1075del (p.Ala353_Thr354insTer) |
deletion |
not provided [RCV001950775] |
Chr11:77159500..77159516 [GRCh38] Chr11:76870546..76870562 [GRCh37] Chr11:11q13.5 |
pathogenic |
NM_000260.4(MYO7A):c.5712_5713del (p.His1904fs) |
microsatellite |
not provided [RCV001880692] |
Chr11:77206170..77206171 [GRCh38] Chr11:76917215..76917216 [GRCh37] Chr11:11q13.5 |
pathogenic |
NM_000260.4(MYO7A):c.3427C>G (p.Leu1143Val) |
single nucleotide variant |
not provided [RCV002010956] |
Chr11:77184639 [GRCh38] Chr11:76895684 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.5062C>T (p.Pro1688Ser) |
single nucleotide variant |
not provided [RCV001918407] |
Chr11:77202318 [GRCh38] Chr11:76913363 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.283T>C (p.Tyr95His) |
single nucleotide variant |
not provided [RCV002026220] |
Chr11:77147948 [GRCh38] Chr11:76858994 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.2602G>A (p.Glu868Lys) |
single nucleotide variant |
not provided [RCV001867842] |
Chr11:77180389 [GRCh38] Chr11:76891435 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.892T>A (p.Tyr298Asn) |
single nucleotide variant |
not provided [RCV002015891] |
Chr11:77158319 [GRCh38] Chr11:76869365 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.1323T>G (p.Phe441Leu) |
single nucleotide variant |
not provided [RCV001903448] |
Chr11:77161095 [GRCh38] Chr11:76872141 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.3202A>T (p.Ile1068Phe) |
single nucleotide variant |
not provided [RCV001937324] |
Chr11:77182517 [GRCh38] Chr11:76893562 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.4622C>T (p.Pro1541Leu) |
single nucleotide variant |
not provided [RCV001974736] |
Chr11:77199588 [GRCh38] Chr11:76910633 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.1114A>G (p.Ser372Gly) |
single nucleotide variant |
not provided [RCV002030423] |
Chr11:77160196 [GRCh38] Chr11:76871242 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.1798G>A (p.Gly600Ser) |
single nucleotide variant |
not provided [RCV002016606] |
Chr11:77172748 [GRCh38] Chr11:76883794 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.3230C>T (p.Thr1077Ile) |
single nucleotide variant |
not provided [RCV001972295] |
Chr11:77182545 [GRCh38] Chr11:76893590 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.6350del (p.Val2117fs) |
deletion |
not provided [RCV001953763] |
Chr11:77211933 [GRCh38] Chr11:76922978 [GRCh37] Chr11:11q13.5 |
pathogenic |
NM_000260.4(MYO7A):c.6051+2T>C |
single nucleotide variant |
not provided [RCV001955084] |
Chr11:77208805 [GRCh38] Chr11:76919850 [GRCh37] Chr11:11q13.5 |
pathogenic |
NM_000260.4(MYO7A):c.3688C>G (p.Arg1230Gly) |
single nucleotide variant |
not provided [RCV001930657] |
Chr11:77190077 [GRCh38] Chr11:76901122 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.2742G>A (p.Lys914=) |
single nucleotide variant |
not provided [RCV001972347] |
Chr11:77181427 [GRCh38] Chr11:76892473 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.2905-2A>C |
single nucleotide variant |
not provided [RCV002030536] |
Chr11:77181949 [GRCh38] Chr11:76892995 [GRCh37] Chr11:11q13.5 |
likely pathogenic |
NM_000260.4(MYO7A):c.3750+13_3750+14insAATGCACGTGCTCGTGTG |
insertion |
not provided [RCV001881441] |
Chr11:77190146..77190147 [GRCh38] Chr11:76901191..76901192 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.4801C>G (p.Leu1601Val) |
single nucleotide variant |
not provided [RCV001995434] |
Chr11:77199767 [GRCh38] Chr11:76910812 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.5743-2A>G |
single nucleotide variant |
not provided [RCV001994308] |
Chr11:77207287 [GRCh38] Chr11:76918332 [GRCh37] Chr11:11q13.5 |
likely pathogenic |
NM_000260.4(MYO7A):c.592+5G>T |
single nucleotide variant |
not provided [RCV001978439] |
Chr11:77156786 [GRCh38] Chr11:76867832 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.4404G>C (p.Leu1468Phe) |
single nucleotide variant |
not provided [RCV001916304] |
Chr11:77197561 [GRCh38] Chr11:76908606 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.5557C>G (p.His1853Asp) |
single nucleotide variant |
not provided [RCV002029167] |
Chr11:77205538 [GRCh38] Chr11:76916583 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.2215G>C (p.Glu739Gln) |
single nucleotide variant |
not provided [RCV001877258] |
Chr11:77177576 [GRCh38] Chr11:76888622 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.2695-9A>G |
single nucleotide variant |
not provided [RCV001883727] |
Chr11:77181371 [GRCh38] Chr11:76892417 [GRCh37] Chr11:11q13.5 |
pathogenic|conflicting interpretations of pathogenicity |
NM_000260.4(MYO7A):c.2661del (p.Lys888fs) |
deletion |
not provided [RCV002035492] |
Chr11:77180448 [GRCh38] Chr11:76891494 [GRCh37] Chr11:11q13.5 |
pathogenic |
NM_000260.4(MYO7A):c.6326C>G (p.Thr2109Ser) |
single nucleotide variant |
not provided [RCV001926254] |
Chr11:77211909 [GRCh38] Chr11:76922954 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.1555-3C>T |
single nucleotide variant |
not provided [RCV002031742] |
Chr11:77162850 [GRCh38] Chr11:76873896 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.1073T>C (p.Leu358Pro) |
single nucleotide variant |
not provided [RCV001998222] |
Chr11:77159516 [GRCh38] Chr11:76870562 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.1933A>G (p.Met645Val) |
single nucleotide variant |
not provided [RCV001976692] |
Chr11:77172883 [GRCh38] Chr11:76883929 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.6521T>G (p.Leu2174Trp) |
single nucleotide variant |
not provided [RCV001867294] |
Chr11:77213942 [GRCh38] Chr11:76924987 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.593-2A>G |
single nucleotide variant |
not provided [RCV002029559] |
Chr11:77156860 [GRCh38] Chr11:76867906 [GRCh37] Chr11:11q13.5 |
likely pathogenic |
NM_000260.4(MYO7A):c.569T>G (p.Leu190Trp) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 11 [RCV002490085]|not provided [RCV001883280] |
Chr11:77156758 [GRCh38] Chr11:76867804 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.3750+14T>C |
single nucleotide variant |
not provided [RCV001996481] |
Chr11:77190153 [GRCh38] Chr11:76901198 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.1615A>T (p.Ile539Phe) |
single nucleotide variant |
not provided [RCV001926228] |
Chr11:77162913 [GRCh38] Chr11:76873959 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.4746C>G (p.Phe1582Leu) |
single nucleotide variant |
not provided [RCV002019938] |
Chr11:77199712 [GRCh38] Chr11:76910757 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.376A>T (p.Lys126Ter) |
single nucleotide variant |
not provided [RCV001900542] |
Chr11:77155997 [GRCh38] Chr11:76867043 [GRCh37] Chr11:11q13.5 |
pathogenic |
NM_000260.4(MYO7A):c.2196T>A (p.His732Gln) |
single nucleotide variant |
not provided [RCV001951880] |
Chr11:77177557 [GRCh38] Chr11:76888603 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.161C>G (p.Thr54Arg) |
single nucleotide variant |
not provided [RCV001899321] |
Chr11:77147826 [GRCh38] Chr11:76858872 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.3388C>T (p.Leu1130=) |
single nucleotide variant |
not provided [RCV001975482] |
Chr11:77184600 [GRCh38] Chr11:76895645 [GRCh37] Chr11:11q13.5 |
likely benign|conflicting interpretations of pathogenicity |
NM_000260.4(MYO7A):c.149C>T (p.Pro50Leu) |
single nucleotide variant |
not provided [RCV001885771] |
Chr11:77147814 [GRCh38] Chr11:76858860 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.5040dup (p.Val1681fs) |
duplication |
not provided [RCV001936220] |
Chr11:77201633..77201634 [GRCh38] Chr11:76912678..76912679 [GRCh37] Chr11:11q13.5 |
pathogenic |
NM_000260.4(MYO7A):c.2758C>T (p.Arg920Trp) |
single nucleotide variant |
not provided [RCV001952084] |
Chr11:77181443 [GRCh38] Chr11:76892489 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.677C>T (p.Ala226Val) |
single nucleotide variant |
not provided [RCV001921654] |
Chr11:77156946 [GRCh38] Chr11:76867992 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.2080C>A (p.Pro694Thr) |
single nucleotide variant |
not provided [RCV002033077] |
Chr11:77174900 [GRCh38] Chr11:76885946 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.6079_6081del (p.His2027del) |
deletion |
not provided [RCV001918179] |
Chr11:77211177..77211179 [GRCh38] Chr11:76922222..76922224 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.3002T>G (p.Phe1001Cys) |
single nucleotide variant |
not provided [RCV001921726] |
Chr11:77182048 [GRCh38] Chr11:76893094 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.5169-10G>A |
single nucleotide variant |
not provided [RCV001995909] |
Chr11:77203050 [GRCh38] Chr11:76914095 [GRCh37] Chr11:11q13.5 |
likely benign|uncertain significance |
NM_000260.4(MYO7A):c.1832G>A (p.Ser611Asn) |
single nucleotide variant |
not provided [RCV001997799] |
Chr11:77172782 [GRCh38] Chr11:76883828 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.5282T>C (p.Leu1761Pro) |
single nucleotide variant |
not provided [RCV002045865] |
Chr11:77203173 [GRCh38] Chr11:76914218 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.4959del (p.Asn1653fs) |
deletion |
not provided [RCV001902278] |
Chr11:77201554 [GRCh38] Chr11:76912599 [GRCh37] Chr11:11q13.5 |
pathogenic |
NM_000260.4(MYO7A):c.6134A>G (p.Lys2045Arg) |
single nucleotide variant |
not provided [RCV002019617] |
Chr11:77211234 [GRCh38] Chr11:76922279 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.3630+15G>A |
single nucleotide variant |
not provided [RCV001864764] |
Chr11:77189485 [GRCh38] Chr11:76900530 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.1439A>G (p.Glu480Gly) |
single nucleotide variant |
not provided [RCV002014839] |
Chr11:77162215 [GRCh38] Chr11:76873261 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.1775T>C (p.Ile592Thr) |
single nucleotide variant |
not provided [RCV001881657] |
Chr11:77166140 [GRCh38] Chr11:76877186 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.2629G>C (p.Glu877Gln) |
single nucleotide variant |
not provided [RCV001922908] |
Chr11:77180416 [GRCh38] Chr11:76891462 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.6638G>A (p.Ser2213Asn) |
single nucleotide variant |
not provided [RCV001938117] |
Chr11:77214686 [GRCh38] Chr11:76925731 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.6424dup (p.Asp2142fs) |
duplication |
not provided [RCV001901168] |
Chr11:77213020..77213021 [GRCh38] Chr11:76924065..76924066 [GRCh37] Chr11:11q13.5 |
pathogenic |
NM_000260.4(MYO7A):c.849+1G>A |
single nucleotide variant |
not provided [RCV001930491] |
Chr11:77157393 [GRCh38] Chr11:76868439 [GRCh37] Chr11:11q13.5 |
pathogenic |
NM_000260.4(MYO7A):c.913A>G (p.Met305Val) |
single nucleotide variant |
not provided [RCV001952541] |
Chr11:77158340 [GRCh38] Chr11:76869386 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.6298T>G (p.Phe2100Val) |
single nucleotide variant |
not provided [RCV001957248] |
Chr11:77211881 [GRCh38] Chr11:76922926 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NC_000011.9:g.(?_76901732)_(76901925_?)del |
deletion |
not provided [RCV002014997] |
Chr11:76901732..76901925 [GRCh37] Chr11:11q13.5 |
likely pathogenic |
NM_000260.4(MYO7A):c.4234C>G (p.Leu1412Val) |
single nucleotide variant |
not provided [RCV001904385] |
Chr11:77194435 [GRCh38] Chr11:76905480 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.486_593-20delinsAG |
indel |
not provided [RCV001958965] |
Chr11:77156675..77156842 [GRCh38] Chr11:76867721..76867888 [GRCh37] Chr11:11q13.5 |
pathogenic |
NM_000260.4(MYO7A):c.73_98dup (p.Gly34_Gln35insArgTrpTerGly) |
duplication |
not provided [RCV001960750] |
Chr11:77142760..77142761 [GRCh38] Chr11:76853806..76853807 [GRCh37] Chr11:11q13.5 |
pathogenic |
NM_000260.4(MYO7A):c.3108G>C (p.Leu1036=) |
single nucleotide variant |
not provided [RCV001901554] |
Chr11:77182154 [GRCh38] Chr11:76893200 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.2586+1G>A |
single nucleotide variant |
not provided [RCV002031585] |
Chr11:77179954 [GRCh38] Chr11:76891000 [GRCh37] Chr11:11q13.5 |
likely pathogenic |
NM_000260.4(MYO7A):c.3282C>T (p.Gly1094=) |
single nucleotide variant |
not provided [RCV001936747] |
Chr11:77182597 [GRCh38] Chr11:76893642 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.2338G>A (p.Gly780Ser) |
single nucleotide variant |
not provided [RCV001883140] |
Chr11:77179100 [GRCh38] Chr11:76890146 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.1555-1G>A |
single nucleotide variant |
not provided [RCV001979337] |
Chr11:77162852 [GRCh38] Chr11:76873898 [GRCh37] Chr11:11q13.5 |
pathogenic|likely pathogenic |
NM_000260.4(MYO7A):c.1798-2A>C |
single nucleotide variant |
not provided [RCV001961367] |
Chr11:77172746 [GRCh38] Chr11:76883792 [GRCh37] Chr11:11q13.5 |
pathogenic|likely pathogenic |
NM_000260.4(MYO7A):c.35T>C (p.Met12Thr) |
single nucleotide variant |
not provided [RCV001918944] |
Chr11:77142725 [GRCh38] Chr11:76853771 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.1562A>G (p.Asp521Gly) |
single nucleotide variant |
not provided [RCV001932948] |
Chr11:77162860 [GRCh38] Chr11:76873906 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.1643A>G (p.Gln548Arg) |
single nucleotide variant |
not provided [RCV001989564] |
Chr11:77162941 [GRCh38] Chr11:76873987 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.5637-1G>T |
single nucleotide variant |
not provided [RCV002013064] |
Chr11:77206096 [GRCh38] Chr11:76917141 [GRCh37] Chr11:11q13.5 |
likely pathogenic |
NM_000260.4(MYO7A):c.4075G>C (p.Glu1359Gln) |
single nucleotide variant |
not provided [RCV001904621] |
Chr11:77192201 [GRCh38] Chr11:76903246 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.1205T>C (p.Ile402Thr) |
single nucleotide variant |
not provided [RCV001883351] |
Chr11:77160977 [GRCh38] Chr11:76872023 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.6049C>T (p.Gln2017Ter) |
single nucleotide variant |
not provided [RCV001959153] |
Chr11:77208801 [GRCh38] Chr11:76919846 [GRCh37] Chr11:11q13.5 |
pathogenic |
NM_000260.4(MYO7A):c.3951C>G (p.Asp1317Glu) |
single nucleotide variant |
not provided [RCV001905272] |
Chr11:77192077 [GRCh38] Chr11:76903122 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.5502G>A (p.Trp1834Ter) |
single nucleotide variant |
not provided [RCV001972764] |
Chr11:77205483 [GRCh38] Chr11:76916528 [GRCh37] Chr11:11q13.5 |
pathogenic |
NC_000011.10:g.77172749del |
deletion |
not provided [RCV001959136] |
Chr11:77172747 [GRCh38] Chr11:76883793 [GRCh37] Chr11:11q13.5 |
pathogenic |
NM_000260.4(MYO7A):c.2287_2288insC (p.Asn763fs) |
insertion |
not provided [RCV001905244] |
Chr11:77179049..77179050 [GRCh38] Chr11:76890095..76890096 [GRCh37] Chr11:11q13.5 |
pathogenic |
NM_000260.4(MYO7A):c.4599C>G (p.Cys1533Trp) |
single nucleotide variant |
not provided [RCV001959215] |
Chr11:77199565 [GRCh38] Chr11:76910610 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.5522C>T (p.Thr1841Met) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 11 [RCV002482689]|not provided [RCV001884236]|not specified [RCV003230709] |
Chr11:77205503 [GRCh38] Chr11:76916548 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.4783G>A (p.Val1595Ile) |
single nucleotide variant |
not provided [RCV001904847] |
Chr11:77199749 [GRCh38] Chr11:76910794 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.3569G>A (p.Arg1190Gln) |
single nucleotide variant |
not provided [RCV001997467] |
Chr11:77189409 [GRCh38] Chr11:76900454 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.272A>G (p.Asp91Gly) |
single nucleotide variant |
not provided [RCV002035634] |
Chr11:77147937 [GRCh38] Chr11:76858983 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.3505_3506delinsCT (p.Asp1169Leu) |
indel |
not provided [RCV002035992] |
Chr11:77189345..77189346 [GRCh38] Chr11:76900390..76900391 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.5662C>T (p.His1888Tyr) |
single nucleotide variant |
not provided [RCV001907025] |
Chr11:77206122 [GRCh38] Chr11:76917167 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NC_000011.9:g.(?_76892406)_(76925741_?)del |
deletion |
not provided [RCV002035491] |
Chr11:76892406..76925741 [GRCh37] Chr11:11q13.5 |
pathogenic |
NM_000260.4(MYO7A):c.3041C>T (p.Thr1014Met) |
single nucleotide variant |
not provided [RCV001925058] |
Chr11:77182087 [GRCh38] Chr11:76893133 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.4882G>A (p.Ala1628Thr) |
single nucleotide variant |
not provided [RCV001960795] |
Chr11:77201477 [GRCh38] Chr11:76912522 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.4490G>T (p.Gly1497Val) |
single nucleotide variant |
not provided [RCV002036295] |
Chr11:77198543 [GRCh38] Chr11:76909588 [GRCh37] Chr11:11q13.5 |
likely pathogenic |
NM_000260.4(MYO7A):c.4288A>T (p.Lys1430Ter) |
single nucleotide variant |
not provided [RCV001952178] |
Chr11:77194489 [GRCh38] Chr11:76905534 [GRCh37] Chr11:11q13.5 |
pathogenic |
NM_000260.4(MYO7A):c.1405G>A (p.Val469Met) |
single nucleotide variant |
not provided [RCV001879361] |
Chr11:77162181 [GRCh38] Chr11:76873227 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.5912_5914del (p.Asp1971_Trp1972delinsGly) |
deletion |
not provided [RCV001973116] |
Chr11:77208485..77208487 [GRCh38] Chr11:76919530..76919532 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.6529G>A (p.Gly2177Arg) |
single nucleotide variant |
not provided [RCV001916884] |
Chr11:77213950 [GRCh38] Chr11:76924995 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.3285+1_3285+2insGCGGGG |
insertion |
not provided [RCV002012657] |
Chr11:77182599..77182600 [GRCh38] Chr11:76893644..76893645 [GRCh37] Chr11:11q13.5 |
likely pathogenic |
NM_000260.4(MYO7A):c.80T>A (p.Val27Glu) |
single nucleotide variant |
not provided [RCV001883030] |
Chr11:77142770 [GRCh38] Chr11:76853816 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.6115G>T (p.Ala2039Ser) |
single nucleotide variant |
not provided [RCV002049945] |
Chr11:77211215 [GRCh38] Chr11:76922260 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.3630G>A (p.Lys1210=) |
single nucleotide variant |
not provided [RCV001976709] |
Chr11:77189470 [GRCh38] Chr11:76900515 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.3376-1G>A |
single nucleotide variant |
not provided [RCV001991274] |
Chr11:77184587 [GRCh38] Chr11:76895632 [GRCh37] Chr11:11q13.5 |
likely pathogenic |
NM_000260.4(MYO7A):c.4013G>T (p.Arg1338Leu) |
single nucleotide variant |
not provided [RCV002027458] |
Chr11:77192139 [GRCh38] Chr11:76903184 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.5063C>T (p.Pro1688Leu) |
single nucleotide variant |
not provided [RCV001919747] |
Chr11:77202319 [GRCh38] Chr11:76913364 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.3433G>A (p.Asp1145Asn) |
single nucleotide variant |
not provided [RCV001973472] |
Chr11:77184645 [GRCh38] Chr11:76895690 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.3172C>T (p.His1058Tyr) |
single nucleotide variant |
not provided [RCV002010132] |
Chr11:77182487 [GRCh38] Chr11:76893532 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.2153A>G (p.Asp718Gly) |
single nucleotide variant |
not provided [RCV002011107] |
Chr11:77175430 [GRCh38] Chr11:76886476 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.4137G>T (p.Glu1379Asp) |
single nucleotide variant |
not provided [RCV002050134] |
Chr11:77192263 [GRCh38] Chr11:76903308 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.6238-2A>T |
single nucleotide variant |
not provided [RCV002017059] |
Chr11:77211819 [GRCh38] Chr11:76922864 [GRCh37] Chr11:11q13.5 |
likely pathogenic |
NC_000011.9:g.(?_76890071)_(76892655_?)del |
deletion |
not provided [RCV001972613] |
Chr11:76890071..76892655 [GRCh37] Chr11:11q13.5 |
pathogenic |
NM_000260.4(MYO7A):c.6434C>T (p.Thr2145Met) |
single nucleotide variant |
not provided [RCV001955237] |
Chr11:77213031 [GRCh38] Chr11:76924076 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.5678A>G (p.Glu1893Gly) |
single nucleotide variant |
not provided [RCV002014762] |
Chr11:77206138 [GRCh38] Chr11:76917183 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.5510T>A (p.Leu1837His) |
single nucleotide variant |
Usher syndrome [RCV003324573]|not provided [RCV001956140] |
Chr11:77205491 [GRCh38] Chr11:76916536 [GRCh37] Chr11:11q13.5 |
pathogenic |
NC_000011.9:g.(?_76858834)_(76877218_?)del |
deletion |
not provided [RCV001958728] |
Chr11:76858834..76877218 [GRCh37] Chr11:11q13.5 |
pathogenic |
NM_000260.4(MYO7A):c.4466T>C (p.Val1489Ala) |
single nucleotide variant |
not provided [RCV001978145] |
Chr11:77198519 [GRCh38] Chr11:76909564 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.1798-11C>A |
single nucleotide variant |
not provided [RCV001996551] |
Chr11:77172737 [GRCh38] Chr11:76883783 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.132T>C (p.Asn44=) |
single nucleotide variant |
not provided [RCV001989744] |
Chr11:77142822 [GRCh38] Chr11:76853868 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.4071C>T (p.Pro1357=) |
single nucleotide variant |
not provided [RCV002210141] |
Chr11:77192197 [GRCh38] Chr11:76903242 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.5745C>T (p.Ala1915=) |
single nucleotide variant |
not provided [RCV002207144] |
Chr11:77207291 [GRCh38] Chr11:76918336 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.2253T>C (p.Leu751=) |
single nucleotide variant |
not provided [RCV002146603] |
Chr11:77177614 [GRCh38] Chr11:76888660 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.1004-13T>A |
single nucleotide variant |
not provided [RCV002085531] |
Chr11:77159434 [GRCh38] Chr11:76870480 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.1344-4G>A |
single nucleotide variant |
not provided [RCV002192127] |
Chr11:77162116 [GRCh38] Chr11:76873162 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.2565G>A (p.Leu855=) |
single nucleotide variant |
not provided [RCV002190409] |
Chr11:77179932 [GRCh38] Chr11:76890978 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.5382G>A (p.Glu1794=) |
single nucleotide variant |
not provided [RCV002084642] |
Chr11:77204131 [GRCh38] Chr11:76915176 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.2188-12T>A |
single nucleotide variant |
not provided [RCV002165154] |
Chr11:77177537 [GRCh38] Chr11:76888583 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.2188-10T>C |
single nucleotide variant |
not provided [RCV002185010] |
Chr11:77177539 [GRCh38] Chr11:76888585 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.1926G>A (p.Lys642=) |
single nucleotide variant |
not provided [RCV002145338] |
Chr11:77172876 [GRCh38] Chr11:76883922 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.4521A>G (p.Val1507=) |
single nucleotide variant |
not provided [RCV002189050] |
Chr11:77198574 [GRCh38] Chr11:76909619 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.4020C>T (p.Ala1340=) |
single nucleotide variant |
not provided [RCV002207162] |
Chr11:77192146 [GRCh38] Chr11:76903191 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.850-8C>T |
single nucleotide variant |
not provided [RCV002072647] |
Chr11:77158269 [GRCh38] Chr11:76869315 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.2322C>A (p.Ile774=) |
single nucleotide variant |
not provided [RCV002074627] |
Chr11:77179084 [GRCh38] Chr11:76890130 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.3780G>A (p.Leu1260=) |
single nucleotide variant |
not provided [RCV002208990] |
Chr11:77190726 [GRCh38] Chr11:76901771 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.5168+8C>T |
single nucleotide variant |
not provided [RCV002074713] |
Chr11:77202432 [GRCh38] Chr11:76913477 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.4568+15A>G |
single nucleotide variant |
not provided [RCV002129417] |
Chr11:77198636 [GRCh38] Chr11:76909681 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.1201-7C>T |
single nucleotide variant |
not provided [RCV002166826] |
Chr11:77160966 [GRCh38] Chr11:76872012 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.5706T>A (p.Ile1902=) |
single nucleotide variant |
not provided [RCV002208100] |
Chr11:77206166 [GRCh38] Chr11:76917211 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.1479G>A (p.Gln493=) |
single nucleotide variant |
not provided [RCV002147561] |
Chr11:77162255 [GRCh38] Chr11:76873301 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.174T>G (p.Pro58=) |
single nucleotide variant |
not provided [RCV002092614] |
Chr11:77147839 [GRCh38] Chr11:76858885 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.6126C>T (p.Tyr2042=) |
single nucleotide variant |
not provided [RCV002088091] |
Chr11:77211226 [GRCh38] Chr11:76922271 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.5945-7G>A |
single nucleotide variant |
not provided [RCV002205130] |
Chr11:77208690 [GRCh38] Chr11:76919735 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.1257C>T (p.Tyr419=) |
single nucleotide variant |
not provided [RCV002072584] |
Chr11:77161029 [GRCh38] Chr11:76872075 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.1691-8G>A |
single nucleotide variant |
not provided [RCV002086547] |
Chr11:77166048 [GRCh38] Chr11:76877094 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.850-12C>T |
single nucleotide variant |
not provided [RCV002108029] |
Chr11:77158265 [GRCh38] Chr11:76869311 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.2095-8C>T |
single nucleotide variant |
not provided [RCV002165659] |
Chr11:77175364 [GRCh38] Chr11:76886410 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.3286-6C>T |
single nucleotide variant |
not provided [RCV002074774] |
Chr11:77183062 [GRCh38] Chr11:76894107 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.4383T>C (p.Tyr1461=) |
single nucleotide variant |
not provided [RCV002164842] |
Chr11:77197540 [GRCh38] Chr11:76908585 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.216C>T (p.Arg72=) |
single nucleotide variant |
not provided [RCV002166039] |
Chr11:77147881 [GRCh38] Chr11:76858927 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.675C>A (p.Gly225=) |
single nucleotide variant |
not provided [RCV002205229] |
Chr11:77156944 [GRCh38] Chr11:76867990 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.2049G>A (p.Glu683=) |
single nucleotide variant |
not provided [RCV002147818] |
Chr11:77174869 [GRCh38] Chr11:76885915 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.4239G>T (p.Val1413=) |
single nucleotide variant |
not provided [RCV002164827] |
Chr11:77194440 [GRCh38] Chr11:76905485 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.3903C>G (p.Leu1301=) |
single nucleotide variant |
not provided [RCV002169323] |
Chr11:77190849 [GRCh38] Chr11:76901894 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.5743-20G>A |
single nucleotide variant |
not provided [RCV002085187] |
Chr11:77207269 [GRCh38] Chr11:76918314 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.4917G>T (p.Thr1639=) |
single nucleotide variant |
not provided [RCV002167980] |
Chr11:77201512 [GRCh38] Chr11:76912557 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.5857-12C>G |
single nucleotide variant |
not provided [RCV002169428] |
Chr11:77208418 [GRCh38] Chr11:76919463 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.3975G>A (p.Gln1325=) |
single nucleotide variant |
not provided [RCV002130408] |
Chr11:77192101 [GRCh38] Chr11:76903146 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.1899G>T (p.Val633=) |
single nucleotide variant |
not provided [RCV002192604] |
Chr11:77172849 [GRCh38] Chr11:76883895 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.4059C>G (p.Pro1353=) |
single nucleotide variant |
not provided [RCV002075727] |
Chr11:77192185 [GRCh38] Chr11:76903230 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.6355-12C>G |
single nucleotide variant |
not provided [RCV002128338] |
Chr11:77212940 [GRCh38] Chr11:76923985 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.5637-16_5637-8del |
microsatellite |
not provided [RCV002186451] |
Chr11:77206070..77206078 [GRCh38] Chr11:76917115..76917123 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.5945-19C>T |
single nucleotide variant |
not provided [RCV002105973] |
Chr11:77208678 [GRCh38] Chr11:76919723 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.1555-6C>T |
single nucleotide variant |
not provided [RCV002210897] |
Chr11:77162847 [GRCh38] Chr11:76873893 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.19-17C>T |
single nucleotide variant |
not provided [RCV002112424] |
Chr11:77142692 [GRCh38] Chr11:76853738 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.3375+18G>A |
single nucleotide variant |
not provided [RCV002166766] |
Chr11:77183175 [GRCh38] Chr11:76894220 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.3109-9C>G |
single nucleotide variant |
not provided [RCV002127208] |
Chr11:77182415 [GRCh38] Chr11:76893460 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.6558+9G>T |
single nucleotide variant |
not provided [RCV002128649] |
Chr11:77213988 [GRCh38] Chr11:76925033 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.2736G>A (p.Glu912=) |
single nucleotide variant |
not provided [RCV002189436] |
Chr11:77181421 [GRCh38] Chr11:76892467 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.1873C>T (p.Leu625=) |
single nucleotide variant |
not provided [RCV002165859] |
Chr11:77172823 [GRCh38] Chr11:76883869 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.3156C>T (p.Leu1052=) |
single nucleotide variant |
not provided [RCV002090782] |
Chr11:77182471 [GRCh38] Chr11:76893516 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.939C>T (p.Thr313=) |
single nucleotide variant |
not provided [RCV002087962] |
Chr11:77158366 [GRCh38] Chr11:76869412 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.6477C>T (p.Asn2159=) |
single nucleotide variant |
not provided [RCV002205312] |
Chr11:77213898 [GRCh38] Chr11:76924943 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.5442T>C (p.Tyr1814=) |
single nucleotide variant |
not provided [RCV002072819] |
Chr11:77204191 [GRCh38] Chr11:76915236 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.3833C>T (p.Thr1278Ile) |
single nucleotide variant |
Sensorineural hearing loss disorder [RCV002244297] |
Chr11:77190779 [GRCh38] Chr11:76901824 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.3631-15G>A |
single nucleotide variant |
not provided [RCV002187600] |
Chr11:77190005 [GRCh38] Chr11:76901050 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.1218G>A (p.Leu406=) |
single nucleotide variant |
not provided [RCV002187196] |
Chr11:77160990 [GRCh38] Chr11:76872036 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.5169-20C>T |
single nucleotide variant |
not provided [RCV002110997] |
Chr11:77203040 [GRCh38] Chr11:76914085 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.5327-12G>A |
single nucleotide variant |
not provided [RCV002189016] |
Chr11:77204064 [GRCh38] Chr11:76915109 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.2103C>G (p.Leu701=) |
single nucleotide variant |
not provided [RCV002107010] |
Chr11:77175380 [GRCh38] Chr11:76886426 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.345G>T (p.Ser115=) |
single nucleotide variant |
not provided [RCV002191481] |
Chr11:77155966 [GRCh38] Chr11:76867012 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.6171C>A (p.Pro2057=) |
single nucleotide variant |
not provided [RCV002185418] |
Chr11:77211271 [GRCh38] Chr11:76922316 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.5637-19G>T |
single nucleotide variant |
not provided [RCV002169084] |
Chr11:77206078 [GRCh38] Chr11:76917123 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.2706C>A (p.Ala902=) |
single nucleotide variant |
not provided [RCV002075821] |
Chr11:77181391 [GRCh38] Chr11:76892437 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.1641C>A (p.Thr547=) |
single nucleotide variant |
not provided [RCV002167754] |
Chr11:77162939 [GRCh38] Chr11:76873985 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.6597C>T (p.Ser2199=) |
single nucleotide variant |
not provided [RCV002165329] |
Chr11:77214645 [GRCh38] Chr11:76925690 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.1798-3del |
deletion |
not provided [RCV002128154] |
Chr11:77172740 [GRCh38] Chr11:76883786 [GRCh37] Chr11:11q13.5 |
benign |
NM_000260.4(MYO7A):c.1554+20G>A |
single nucleotide variant |
not provided [RCV002109930] |
Chr11:77162350 [GRCh38] Chr11:76873396 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.5322C>T (p.Phe1774=) |
single nucleotide variant |
not provided [RCV002091652] |
Chr11:77203213 [GRCh38] Chr11:76914258 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.6450C>T (p.Thr2150=) |
single nucleotide variant |
not provided [RCV002107055] |
Chr11:77213871 [GRCh38] Chr11:76924916 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.5913C>T (p.Asp1971=) |
single nucleotide variant |
not provided [RCV002192188] |
Chr11:77208486 [GRCh38] Chr11:76919531 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.3336G>A (p.Val1112=) |
single nucleotide variant |
not provided [RCV002095983] |
Chr11:77183118 [GRCh38] Chr11:76894163 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.1074G>T (p.Leu358=) |
single nucleotide variant |
not provided [RCV002186559] |
Chr11:77159517 [GRCh38] Chr11:76870563 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.951G>A (p.Glu317=) |
single nucleotide variant |
not provided [RCV002106021] |
Chr11:77158378 [GRCh38] Chr11:76869424 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.6036C>T (p.Ile2012=) |
single nucleotide variant |
not provided [RCV002191169] |
Chr11:77208788 [GRCh38] Chr11:76919833 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.363G>A (p.Gln121=) |
single nucleotide variant |
not provided [RCV002172357] |
Chr11:77155984 [GRCh38] Chr11:76867030 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.2943C>T (p.Asp981=) |
single nucleotide variant |
not provided [RCV002153682] |
Chr11:77181989 [GRCh38] Chr11:76893035 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.5658T>C (p.Pro1886=) |
single nucleotide variant |
not provided [RCV002079661] |
Chr11:77206118 [GRCh38] Chr11:76917163 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.2580G>A (p.Arg860=) |
single nucleotide variant |
not provided [RCV002185193] |
Chr11:77179947 [GRCh38] Chr11:76890993 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.1044C>T (p.Phe348=) |
single nucleotide variant |
not provided [RCV002174277] |
Chr11:77159487 [GRCh38] Chr11:76870533 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.5187G>T (p.Thr1729=) |
single nucleotide variant |
not provided [RCV002215366] |
Chr11:77203078 [GRCh38] Chr11:76914123 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.4347T>G (p.Thr1449=) |
single nucleotide variant |
not provided [RCV002096773] |
Chr11:77197504 [GRCh38] Chr11:76908549 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.4659C>G (p.Pro1553=) |
single nucleotide variant |
not provided [RCV002094369] |
Chr11:77199625 [GRCh38] Chr11:76910670 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.5643G>A (p.Gly1881=) |
single nucleotide variant |
not provided [RCV002129231] |
Chr11:77206103 [GRCh38] Chr11:76917148 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.2904+17A>G |
single nucleotide variant |
not provided [RCV002113491] |
Chr11:77181606 [GRCh38] Chr11:76892652 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.4710C>T (p.Phe1570=) |
single nucleotide variant |
not provided [RCV002149425] |
Chr11:77199676 [GRCh38] Chr11:76910721 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.592+20G>T |
single nucleotide variant |
not provided [RCV002172676] |
Chr11:77156801 [GRCh38] Chr11:76867847 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.5517G>A (p.Leu1839=) |
single nucleotide variant |
not provided [RCV002153707] |
Chr11:77205498 [GRCh38] Chr11:76916543 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.1003+19C>T |
single nucleotide variant |
not provided [RCV002094398] |
Chr11:77158449 [GRCh38] Chr11:76869495 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.4362C>T (p.Val1454=) |
single nucleotide variant |
not provided [RCV002113527] |
Chr11:77197519 [GRCh38] Chr11:76908564 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.2283-19G>A |
single nucleotide variant |
not provided [RCV002205355] |
Chr11:77179026 [GRCh38] Chr11:76890072 [GRCh37] Chr11:11q13.5 |
benign |
NM_000260.4(MYO7A):c.5636+12A>C |
single nucleotide variant |
not provided [RCV002074958] |
Chr11:77205629 [GRCh38] Chr11:76916674 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.3039C>A (p.Thr1013=) |
single nucleotide variant |
not provided [RCV002150216] |
Chr11:77182085 [GRCh38] Chr11:76893131 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.6219A>T (p.Ser2073=) |
single nucleotide variant |
not provided [RCV002172689] |
Chr11:77211319 [GRCh38] Chr11:76922364 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.5349C>T (p.Asp1783=) |
single nucleotide variant |
not provided [RCV002211841] |
Chr11:77204098 [GRCh38] Chr11:76915143 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.6348G>A (p.Glu2116=) |
single nucleotide variant |
not provided [RCV002213846] |
Chr11:77211931 [GRCh38] Chr11:76922976 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.19-5C>T |
single nucleotide variant |
not provided [RCV002133994] |
Chr11:77142704 [GRCh38] Chr11:76853750 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.4009G>A (p.Glu1337Lys) |
single nucleotide variant |
not provided [RCV002096334] |
Chr11:77192135 [GRCh38] Chr11:76903180 [GRCh37] Chr11:11q13.5 |
likely benign|conflicting interpretations of pathogenicity |
NM_000260.4(MYO7A):c.6378T>C (p.Pro2126=) |
single nucleotide variant |
not provided [RCV002080978] |
Chr11:77212975 [GRCh38] Chr11:76924020 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.2695-15A>G |
single nucleotide variant |
not provided [RCV002075103] |
Chr11:77181365 [GRCh38] Chr11:76892411 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.5523G>C (p.Thr1841=) |
single nucleotide variant |
not provided [RCV002213926] |
Chr11:77205504 [GRCh38] Chr11:76916549 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.882C>T (p.Asp294=) |
single nucleotide variant |
not provided [RCV002106895] |
Chr11:77158309 [GRCh38] Chr11:76869355 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.3900C>T (p.Ser1300=) |
single nucleotide variant |
not provided [RCV002208274] |
Chr11:77190846 [GRCh38] Chr11:76901891 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.3657C>T (p.Gly1219=) |
single nucleotide variant |
not provided [RCV002077629] |
Chr11:77190046 [GRCh38] Chr11:76901091 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.5168+13G>C |
single nucleotide variant |
not provided [RCV002196355] |
Chr11:77202437 [GRCh38] Chr11:76913482 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.1617C>A (p.Ile539=) |
single nucleotide variant |
not provided [RCV002096991] |
Chr11:77162915 [GRCh38] Chr11:76873961 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.396C>T (p.Pro132=) |
single nucleotide variant |
not provided [RCV002171354] |
Chr11:77156017 [GRCh38] Chr11:76867063 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.4509G>A (p.Glu1503=) |
single nucleotide variant |
not provided [RCV002173969] |
Chr11:77198562 [GRCh38] Chr11:76909607 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.6534C>T (p.Ser2178=) |
single nucleotide variant |
not provided [RCV002097014] |
Chr11:77213955 [GRCh38] Chr11:76925000 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.2586+8A>G |
single nucleotide variant |
not provided [RCV002090049] |
Chr11:77179961 [GRCh38] Chr11:76891007 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.1194C>T (p.Phe398=) |
single nucleotide variant |
not provided [RCV002172921] |
Chr11:77160276 [GRCh38] Chr11:76871322 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.3699G>A (p.Arg1233=) |
single nucleotide variant |
not provided [RCV002195841] |
Chr11:77190088 [GRCh38] Chr11:76901133 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.471-15T>C |
single nucleotide variant |
not provided [RCV002113753] |
Chr11:77156645 [GRCh38] Chr11:76867691 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.5139G>T (p.Thr1713=) |
single nucleotide variant |
not provided [RCV002146662] |
Chr11:77202395 [GRCh38] Chr11:76913440 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.963C>T (p.Leu321=) |
single nucleotide variant |
not provided [RCV002212968] |
Chr11:77158390 [GRCh38] Chr11:76869436 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.3786G>A (p.Val1262=) |
single nucleotide variant |
not provided [RCV002080498] |
Chr11:77190732 [GRCh38] Chr11:76901777 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.483G>C (p.Gly161=) |
single nucleotide variant |
not provided [RCV002153579] |
Chr11:77156672 [GRCh38] Chr11:76867718 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.2748G>A (p.Lys916=) |
single nucleotide variant |
not provided [RCV002174856] |
Chr11:77181433 [GRCh38] Chr11:76892479 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.2368-15T>C |
single nucleotide variant |
not provided [RCV002104903] |
Chr11:77179720 [GRCh38] Chr11:76890766 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.39C>T (p.Asp13=) |
single nucleotide variant |
not provided [RCV002087401] |
Chr11:77142729 [GRCh38] Chr11:76853775 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.1798-10_1798-7del |
microsatellite |
not provided [RCV002166353] |
Chr11:77172732..77172735 [GRCh38] Chr11:76883778..76883781 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.987C>A (p.Gly329=) |
single nucleotide variant |
not provided [RCV002097668] |
Chr11:77158414 [GRCh38] Chr11:76869460 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.1004-20G>C |
single nucleotide variant |
not provided [RCV002213936] |
Chr11:77159427 [GRCh38] Chr11:76870473 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.4596C>T (p.Gly1532=) |
single nucleotide variant |
not provided [RCV002194281] |
Chr11:77199562 [GRCh38] Chr11:76910607 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.3631-15G>C |
single nucleotide variant |
not provided [RCV002152777] |
Chr11:77190005 [GRCh38] Chr11:76901050 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.180C>T (p.His60=) |
single nucleotide variant |
not provided [RCV002078993] |
Chr11:77147845 [GRCh38] Chr11:76858891 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.3691C>T (p.Leu1231=) |
single nucleotide variant |
not provided [RCV002193805] |
Chr11:77190080 [GRCh38] Chr11:76901125 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.981C>T (p.His327=) |
single nucleotide variant |
not provided [RCV002115504] |
Chr11:77158408 [GRCh38] Chr11:76869454 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.4644G>A (p.Leu1548=) |
single nucleotide variant |
not provided [RCV002073949] |
Chr11:77199610 [GRCh38] Chr11:76910655 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.6579C>T (p.Leu2193=) |
single nucleotide variant |
not provided [RCV002197392] |
Chr11:77214627 [GRCh38] Chr11:76925672 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.592+18A>C |
single nucleotide variant |
not provided [RCV002133545] |
Chr11:77156799 [GRCh38] Chr11:76867845 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.4568+9_4568+10delinsAT |
indel |
not provided [RCV002132649] |
Chr11:77198630..77198631 [GRCh38] Chr11:76909675..76909676 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.4911T>C (p.His1637=) |
single nucleotide variant |
not provided [RCV002078399] |
Chr11:77201506 [GRCh38] Chr11:76912551 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.4374G>A (p.Val1458=) |
single nucleotide variant |
not provided [RCV002078108] |
Chr11:77197531 [GRCh38] Chr11:76908576 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.1551C>T (p.Pro517=) |
single nucleotide variant |
not provided [RCV002215892] |
Chr11:77162327 [GRCh38] Chr11:76873373 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.6252C>T (p.Tyr2084=) |
single nucleotide variant |
not provided [RCV002209098] |
Chr11:77211835 [GRCh38] Chr11:76922880 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.2695-8T>C |
single nucleotide variant |
not provided [RCV002209203] |
Chr11:77181372 [GRCh38] Chr11:76892418 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.627C>T (p.Asn209=) |
single nucleotide variant |
not provided [RCV002213787] |
Chr11:77156896 [GRCh38] Chr11:76867942 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.5940G>A (p.Lys1980=) |
single nucleotide variant |
not provided [RCV002084539] |
Chr11:77208513 [GRCh38] Chr11:76919558 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.19-8G>C |
single nucleotide variant |
not provided [RCV002149400] |
Chr11:77142701 [GRCh38] Chr11:76853747 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.1692C>T (p.Gly564=) |
single nucleotide variant |
not provided [RCV002192795] |
Chr11:77166057 [GRCh38] Chr11:76877103 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.5193C>T (p.Ser1731=) |
single nucleotide variant |
not provided [RCV002173534] |
Chr11:77203084 [GRCh38] Chr11:76914129 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.3381C>G (p.Thr1127=) |
single nucleotide variant |
not provided [RCV002095409] |
Chr11:77184593 [GRCh38] Chr11:76895638 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.5043+19G>A |
single nucleotide variant |
not provided [RCV002106617] |
Chr11:77201657 [GRCh38] Chr11:76912702 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.1935+14G>A |
single nucleotide variant |
not provided [RCV002147683] |
Chr11:77172899 [GRCh38] Chr11:76883945 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.1545G>T (p.Lys515Asn) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 2 [RCV003155469]|not provided [RCV002211198] |
Chr11:77162321 [GRCh38] Chr11:76873367 [GRCh37] Chr11:11q13.5 |
likely pathogenic|uncertain significance |
NM_000260.4(MYO7A):c.4920C>A (p.Gly1640=) |
single nucleotide variant |
not provided [RCV002173610] |
Chr11:77201515 [GRCh38] Chr11:76912560 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.4713G>T (p.Thr1571=) |
single nucleotide variant |
not provided [RCV002214021] |
Chr11:77199679 [GRCh38] Chr11:76910724 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.1690+16G>A |
single nucleotide variant |
not provided [RCV002113909] |
Chr11:77163004 [GRCh38] Chr11:76874050 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.5427G>A (p.Leu1809=) |
single nucleotide variant |
not provided [RCV002091386] |
Chr11:77204176 [GRCh38] Chr11:76915221 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.592+12G>A |
single nucleotide variant |
not provided [RCV002094096] |
Chr11:77156793 [GRCh38] Chr11:76867839 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.1582C>T (p.Leu528=) |
single nucleotide variant |
not provided [RCV002194227] |
Chr11:77162880 [GRCh38] Chr11:76873926 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.2282+8T>A |
single nucleotide variant |
not provided [RCV002085777] |
Chr11:77177651 [GRCh38] Chr11:76888697 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.1305C>T (p.Leu435=) |
single nucleotide variant |
not provided [RCV002093465] |
Chr11:77161077 [GRCh38] Chr11:76872123 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.3636G>A (p.Leu1212=) |
single nucleotide variant |
not provided [RCV002194881] |
Chr11:77190025 [GRCh38] Chr11:76901070 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.4568+7A>C |
single nucleotide variant |
not provided [RCV002214038] |
Chr11:77198628 [GRCh38] Chr11:76909673 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.5742+12C>T |
single nucleotide variant |
not provided [RCV002173147] |
Chr11:77206214 [GRCh38] Chr11:76917259 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.1785C>G (p.Ala595=) |
single nucleotide variant |
not provided [RCV002088396] |
Chr11:77166150 [GRCh38] Chr11:76877196 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.924C>T (p.Leu308=) |
single nucleotide variant |
not provided [RCV002212106] |
Chr11:77158351 [GRCh38] Chr11:76869397 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.5857-18C>T |
single nucleotide variant |
not provided [RCV002093601] |
Chr11:77208412 [GRCh38] Chr11:76919457 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.3957C>T (p.Val1319=) |
single nucleotide variant |
not provided [RCV002096821] |
Chr11:77192083 [GRCh38] Chr11:76903128 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.6439-4C>A |
single nucleotide variant |
not provided [RCV002212903] |
Chr11:77213856 [GRCh38] Chr11:76924901 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.5481-12C>T |
single nucleotide variant |
not provided [RCV002187510] |
Chr11:77205450 [GRCh38] Chr11:76916495 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.3864C>G (p.Ala1288=) |
single nucleotide variant |
not provided [RCV002079117] |
Chr11:77190810 [GRCh38] Chr11:76901855 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.1842C>T (p.Phe614=) |
single nucleotide variant |
not provided [RCV002193238] |
Chr11:77172792 [GRCh38] Chr11:76883838 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.6315C>T (p.Phe2105=) |
single nucleotide variant |
not provided [RCV002215609] |
Chr11:77211898 [GRCh38] Chr11:76922943 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.4122A>T (p.Gly1374=) |
single nucleotide variant |
not provided [RCV002076732] |
Chr11:77192248 [GRCh38] Chr11:76903293 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.5803C>T (p.Leu1935=) |
single nucleotide variant |
not provided [RCV002128490] |
Chr11:77207349 [GRCh38] Chr11:76918394 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.3081C>G (p.Leu1027=) |
single nucleotide variant |
not provided [RCV002193318] |
Chr11:77182127 [GRCh38] Chr11:76893173 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.5187G>A (p.Thr1729=) |
single nucleotide variant |
not provided [RCV002194395] |
Chr11:77203078 [GRCh38] Chr11:76914123 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.2386C>A (p.Arg796=) |
single nucleotide variant |
not provided [RCV002114210] |
Chr11:77179753 [GRCh38] Chr11:76890799 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.2574C>T (p.Arg858=) |
single nucleotide variant |
not provided [RCV002151988] |
Chr11:77179941 [GRCh38] Chr11:76890987 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.3804C>A (p.Thr1268=) |
single nucleotide variant |
not provided [RCV002079724] |
Chr11:77190750 [GRCh38] Chr11:76901795 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.3376-4C>A |
single nucleotide variant |
not provided [RCV002076870] |
Chr11:77184584 [GRCh38] Chr11:76895629 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.2658C>A (p.Ala886=) |
single nucleotide variant |
not provided [RCV002080317] |
Chr11:77180445 [GRCh38] Chr11:76891491 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.1989G>A (p.Glu663=) |
single nucleotide variant |
not provided [RCV002096953] |
Chr11:77174809 [GRCh38] Chr11:76885855 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.1608C>T (p.Ala536=) |
single nucleotide variant |
not provided [RCV002153278] |
Chr11:77162906 [GRCh38] Chr11:76873952 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.4443C>A (p.Gly1481=) |
single nucleotide variant |
not provided [RCV002197039] |
Chr11:77198496 [GRCh38] Chr11:76909541 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.5070G>A (p.Gln1690=) |
single nucleotide variant |
not provided [RCV002171171] |
Chr11:77202326 [GRCh38] Chr11:76913371 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.3966C>T (p.Ala1322=) |
single nucleotide variant |
not provided [RCV002078377] |
Chr11:77192092 [GRCh38] Chr11:76903137 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.2187+19C>T |
single nucleotide variant |
not provided [RCV002107377] |
Chr11:77175483 [GRCh38] Chr11:76886529 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.2817C>T (p.His939=) |
single nucleotide variant |
not provided [RCV002079784] |
Chr11:77181502 [GRCh38] Chr11:76892548 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.3286-10G>C |
single nucleotide variant |
not provided [RCV002171260] |
Chr11:77183058 [GRCh38] Chr11:76894103 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.2406C>T (p.Arg802=) |
single nucleotide variant |
not provided [RCV002195184] |
Chr11:77179773 [GRCh38] Chr11:76890819 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.129C>T (p.Asp43=) |
single nucleotide variant |
not provided [RCV002079277] |
Chr11:77142819 [GRCh38] Chr11:76853865 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.5636+18G>A |
single nucleotide variant |
not provided [RCV002113301] |
Chr11:77205635 [GRCh38] Chr11:76916680 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.4074C>G (p.Ser1358=) |
single nucleotide variant |
not provided [RCV002151489] |
Chr11:77192200 [GRCh38] Chr11:76903245 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.5760C>T (p.Ser1920=) |
single nucleotide variant |
not provided [RCV002151490] |
Chr11:77207306 [GRCh38] Chr11:76918351 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.6270G>C (p.Gly2090=) |
single nucleotide variant |
not provided [RCV002105248] |
Chr11:77211853 [GRCh38] Chr11:76922898 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.4056G>T (p.Thr1352=) |
single nucleotide variant |
not provided [RCV002150413] |
Chr11:77192182 [GRCh38] Chr11:76903227 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.3109-13C>T |
single nucleotide variant |
not provided [RCV002138617] |
Chr11:77182411 [GRCh38] Chr11:76893456 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.132+19_132+24del |
microsatellite |
not provided [RCV002157322] |
Chr11:77142838..77142843 [GRCh38] Chr11:76853884..76853889 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.2205G>T (p.Leu735=) |
single nucleotide variant |
not provided [RCV002138950] |
Chr11:77177566 [GRCh38] Chr11:76888612 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.4623T>C (p.Pro1541=) |
single nucleotide variant |
not provided [RCV002180761] |
Chr11:77199589 [GRCh38] Chr11:76910634 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.6249C>T (p.Ala2083=) |
single nucleotide variant |
not provided [RCV002103766] |
Chr11:77211832 [GRCh38] Chr11:76922877 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.4347T>C (p.Thr1449=) |
single nucleotide variant |
not provided [RCV002099733] |
Chr11:77197504 [GRCh38] Chr11:76908549 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.4839T>C (p.Asp1613=) |
single nucleotide variant |
not provided [RCV002099956] |
Chr11:77199805 [GRCh38] Chr11:76910850 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.133-4G>T |
single nucleotide variant |
not provided [RCV002179120] |
Chr11:77147794 [GRCh38] Chr11:76858840 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.5550C>A (p.Leu1850=) |
single nucleotide variant |
not provided [RCV002099849] |
Chr11:77205531 [GRCh38] Chr11:76916576 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.2904+14G>A |
single nucleotide variant |
not provided [RCV002179045] |
Chr11:77181603 [GRCh38] Chr11:76892649 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.6216C>T (p.Val2072=) |
single nucleotide variant |
not provided [RCV002220435] |
Chr11:77211316 [GRCh38] Chr11:76922361 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.5265G>T (p.Ala1755=) |
single nucleotide variant |
not provided [RCV002139488] |
Chr11:77203156 [GRCh38] Chr11:76914201 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.19-13C>T |
single nucleotide variant |
not provided [RCV002104106] |
Chr11:77142696 [GRCh38] Chr11:76853742 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.1500C>T (p.Ala500=) |
single nucleotide variant |
not provided [RCV002157895] |
Chr11:77162276 [GRCh38] Chr11:76873322 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.828T>C (p.Ser276=) |
single nucleotide variant |
not provided [RCV002098251] |
Chr11:77157371 [GRCh38] Chr11:76868417 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.2328G>A (p.Arg776=) |
single nucleotide variant |
not provided [RCV002098535] |
Chr11:77179090 [GRCh38] Chr11:76890136 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.285+14_285+18del |
microsatellite |
not provided [RCV002198432] |
Chr11:77147958..77147962 [GRCh38] Chr11:76859004..76859008 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.2538T>C (p.Tyr846=) |
single nucleotide variant |
not provided [RCV002179560] |
Chr11:77179905 [GRCh38] Chr11:76890951 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.3375+13G>A |
single nucleotide variant |
not provided [RCV002204136] |
Chr11:77183170 [GRCh38] Chr11:76894215 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.850-4C>T |
single nucleotide variant |
not provided [RCV002200293] |
Chr11:77158273 [GRCh38] Chr11:76869319 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.609G>A (p.Lys203=) |
single nucleotide variant |
not provided [RCV002141799] |
Chr11:77156878 [GRCh38] Chr11:76867924 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.5743-4C>G |
single nucleotide variant |
not provided [RCV002156607] |
Chr11:77207285 [GRCh38] Chr11:76918330 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.6439-18C>A |
single nucleotide variant |
not provided [RCV002221131] |
Chr11:77213842 [GRCh38] Chr11:76924887 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.2283-18C>A |
single nucleotide variant |
not provided [RCV002098870] |
Chr11:77179027 [GRCh38] Chr11:76890073 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.1377G>A (p.Glu459=) |
single nucleotide variant |
not provided [RCV002120583] |
Chr11:77162153 [GRCh38] Chr11:76873199 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.285+16C>T |
single nucleotide variant |
not provided [RCV002180212] |
Chr11:77147966 [GRCh38] Chr11:76859012 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.5742+11C>T |
single nucleotide variant |
not provided [RCV002142023] |
Chr11:77206213 [GRCh38] Chr11:76917258 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.6051+8C>A |
single nucleotide variant |
not provided [RCV002155332] |
Chr11:77208811 [GRCh38] Chr11:76919856 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.133-15T>C |
single nucleotide variant |
not provided [RCV002161027] |
Chr11:77147783 [GRCh38] Chr11:76858829 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.471-17A>C |
single nucleotide variant |
not provided [RCV002158906] |
Chr11:77156643 [GRCh38] Chr11:76867689 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.6238-15G>A |
single nucleotide variant |
not provided [RCV002103056] |
Chr11:77211806 [GRCh38] Chr11:76922851 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.5925A>G (p.Lys1975=) |
single nucleotide variant |
not provided [RCV002180449] |
Chr11:77208498 [GRCh38] Chr11:76919543 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.342C>T (p.Tyr114=) |
single nucleotide variant |
not provided [RCV002180532] |
Chr11:77155963 [GRCh38] Chr11:76867009 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.4569-7C>T |
single nucleotide variant |
not provided [RCV002164713] |
Chr11:77199528 [GRCh38] Chr11:76910573 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.4153-18A>G |
single nucleotide variant |
not provided [RCV002099722] |
Chr11:77194336 [GRCh38] Chr11:76905381 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.443A>G (p.Asn148Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV003015289]|not provided [RCV002119390] |
Chr11:77156064 [GRCh38] Chr11:76867110 [GRCh37] Chr11:11q13.5 |
likely benign|uncertain significance |
NM_000260.4(MYO7A):c.1004-7C>T |
single nucleotide variant |
not provided [RCV002177056] |
Chr11:77159440 [GRCh38] Chr11:76870486 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.1003+11G>A |
single nucleotide variant |
not provided [RCV002178969] |
Chr11:77158441 [GRCh38] Chr11:76869487 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.6237+8T>C |
single nucleotide variant |
not provided [RCV002121303] |
Chr11:77211345 [GRCh38] Chr11:76922390 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.4152+18T>A |
single nucleotide variant |
not provided [RCV002199716] |
Chr11:77192296 [GRCh38] Chr11:76903341 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.1900C>A (p.Arg634=) |
single nucleotide variant |
not provided [RCV002141312] |
Chr11:77172850 [GRCh38] Chr11:76883896 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.1632C>T (p.Asn544=) |
single nucleotide variant |
not provided [RCV002160081] |
Chr11:77162930 [GRCh38] Chr11:76873976 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.4053C>T (p.Phe1351=) |
single nucleotide variant |
not provided [RCV002175614] |
Chr11:77192179 [GRCh38] Chr11:76903224 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.5142G>A (p.Leu1714=) |
single nucleotide variant |
not provided [RCV002198124] |
Chr11:77202398 [GRCh38] Chr11:76913443 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.3925-15C>T |
single nucleotide variant |
not provided [RCV002119870] |
Chr11:77192036 [GRCh38] Chr11:76903081 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.4323+15A>G |
single nucleotide variant |
not provided [RCV002156223] |
Chr11:77194539 [GRCh38] Chr11:76905584 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.1798-17_1798-13del |
deletion |
not provided [RCV002160175] |
Chr11:77172730..77172734 [GRCh38] Chr11:76883776..76883780 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.3696A>G (p.Arg1232=) |
single nucleotide variant |
not provided [RCV002141506] |
Chr11:77190085 [GRCh38] Chr11:76901130 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.304C>T (p.Leu102=) |
single nucleotide variant |
not provided [RCV002183288] |
Chr11:77155925 [GRCh38] Chr11:76866971 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.3708C>T (p.Val1236=) |
single nucleotide variant |
not provided [RCV002219128] |
Chr11:77190097 [GRCh38] Chr11:76901142 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.6531G>A (p.Gly2177=) |
single nucleotide variant |
not provided [RCV002163869] |
Chr11:77213952 [GRCh38] Chr11:76924997 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.132+9T>A |
single nucleotide variant |
not provided [RCV002163940] |
Chr11:77142831 [GRCh38] Chr11:76853877 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.3286-9G>T |
single nucleotide variant |
not provided [RCV002176042] |
Chr11:77183059 [GRCh38] Chr11:76894104 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.3231C>A (p.Thr1077=) |
single nucleotide variant |
not provided [RCV002219299] |
Chr11:77182546 [GRCh38] Chr11:76893591 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.1936-4G>A |
single nucleotide variant |
not provided [RCV002183913] |
Chr11:77174752 [GRCh38] Chr11:76885798 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.592+10G>C |
single nucleotide variant |
not provided [RCV002157074] |
Chr11:77156791 [GRCh38] Chr11:76867837 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.1935+7G>A |
single nucleotide variant |
not provided [RCV002120707] |
Chr11:77172892 [GRCh38] Chr11:76883938 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.4935C>T (p.Asn1645=) |
single nucleotide variant |
not provided [RCV002162650] |
Chr11:77201530 [GRCh38] Chr11:76912575 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.3444C>A (p.Thr1148=) |
single nucleotide variant |
not provided [RCV002164373] |
Chr11:77184656 [GRCh38] Chr11:76895701 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.3232C>T (p.Leu1078=) |
single nucleotide variant |
not provided [RCV002120770] |
Chr11:77182547 [GRCh38] Chr11:76893592 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.174T>C (p.Pro58=) |
single nucleotide variant |
not provided [RCV002159031] |
Chr11:77147839 [GRCh38] Chr11:76858885 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.1690+9G>A |
single nucleotide variant |
not provided [RCV002142480] |
Chr11:77162997 [GRCh38] Chr11:76874043 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.5832C>T (p.Ser1944=) |
single nucleotide variant |
not provided [RCV002082838] |
Chr11:77207378 [GRCh38] Chr11:76918423 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.2694+15T>C |
single nucleotide variant |
not provided [RCV002138726] |
Chr11:77180496 [GRCh38] Chr11:76891542 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.1691-4G>T |
single nucleotide variant |
not provided [RCV002201200] |
Chr11:77166052 [GRCh38] Chr11:76877098 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.1080+12G>A |
single nucleotide variant |
not provided [RCV002101582] |
Chr11:77159535 [GRCh38] Chr11:76870581 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.678C>A (p.Ala226=) |
single nucleotide variant |
not provided [RCV002155590] |
Chr11:77156947 [GRCh38] Chr11:76867993 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.4023C>A (p.Pro1341=) |
single nucleotide variant |
not provided [RCV002137102] |
Chr11:77192149 [GRCh38] Chr11:76903194 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.4494G>A (p.Val1498=) |
single nucleotide variant |
not provided [RCV002157616] |
Chr11:77198547 [GRCh38] Chr11:76909592 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.204G>A (p.Glu68=) |
single nucleotide variant |
not provided [RCV002121255] |
Chr11:77147869 [GRCh38] Chr11:76858915 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.5327-16_5327-13del |
microsatellite |
not provided [RCV002220322] |
Chr11:77204056..77204059 [GRCh38] Chr11:76915101..76915104 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.1343+12G>A |
single nucleotide variant |
not provided [RCV002182309] |
Chr11:77161127 [GRCh38] Chr11:76872173 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.285+15G>A |
single nucleotide variant |
not provided [RCV002142346] |
Chr11:77147965 [GRCh38] Chr11:76859011 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.4881T>C (p.Phe1627=) |
single nucleotide variant |
not provided [RCV002162855] |
Chr11:77201476 [GRCh38] Chr11:76912521 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.3376-14T>C |
single nucleotide variant |
not provided [RCV002154016] |
Chr11:77184574 [GRCh38] Chr11:76895619 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.1560A>G (p.Thr520=) |
single nucleotide variant |
not provided [RCV002220371] |
Chr11:77162858 [GRCh38] Chr11:76873904 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.5244G>T (p.Thr1748=) |
single nucleotide variant |
not provided [RCV002083507] |
Chr11:77203135 [GRCh38] Chr11:76914180 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.4116G>A (p.Val1372=) |
single nucleotide variant |
not provided [RCV002154350] |
Chr11:77192242 [GRCh38] Chr11:76903287 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.5361G>A (p.Lys1787=) |
single nucleotide variant |
not provided [RCV002119759] |
Chr11:77204110 [GRCh38] Chr11:76915155 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.3117G>A (p.Leu1039=) |
single nucleotide variant |
not provided [RCV002177522] |
Chr11:77182432 [GRCh38] Chr11:76893477 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.3171C>T (p.Tyr1057=) |
single nucleotide variant |
not provided [RCV002177438] |
Chr11:77182486 [GRCh38] Chr11:76893531 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.702G>A (p.Gln234=) |
single nucleotide variant |
not provided [RCV002157997] |
Chr11:77156971 [GRCh38] Chr11:76868017 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.5592C>T (p.Cys1864=) |
single nucleotide variant |
not provided [RCV002103644] |
Chr11:77205573 [GRCh38] Chr11:76916618 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.4323+9G>A |
single nucleotide variant |
not provided [RCV002184666] |
Chr11:77194533 [GRCh38] Chr11:76905578 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.3925-9_3925-8del |
microsatellite |
not provided [RCV002177655] |
Chr11:77192040..77192041 [GRCh38] Chr11:76903085..76903086 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.4647C>G (p.Thr1549=) |
single nucleotide variant |
not provided [RCV002184733] |
Chr11:77199613 [GRCh38] Chr11:76910658 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.5742+15C>T |
single nucleotide variant |
not provided [RCV002121782] |
Chr11:77206217 [GRCh38] Chr11:76917262 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.4884C>T (p.Ala1628=) |
single nucleotide variant |
not provided [RCV002103893] |
Chr11:77201479 [GRCh38] Chr11:76912524 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.1089C>G (p.Pro363=) |
single nucleotide variant |
not provided [RCV002082005] |
Chr11:77160171 [GRCh38] Chr11:76871217 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.966G>A (p.Leu322=) |
single nucleotide variant |
not provided [RCV002121956] |
Chr11:77158393 [GRCh38] Chr11:76869439 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.5571C>T (p.Phe1857=) |
single nucleotide variant |
not provided [RCV002202156] |
Chr11:77205552 [GRCh38] Chr11:76916597 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.3286-7C>T |
single nucleotide variant |
not provided [RCV002203695] |
Chr11:77183061 [GRCh38] Chr11:76894106 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.4506T>C (p.Asp1502=) |
single nucleotide variant |
not provided [RCV002141218] |
Chr11:77198559 [GRCh38] Chr11:76909604 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.593-19C>A |
single nucleotide variant |
not provided [RCV002217346] |
Chr11:77156843 [GRCh38] Chr11:76867889 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.6052-19C>G |
single nucleotide variant |
not provided [RCV002084149] |
Chr11:77211133 [GRCh38] Chr11:76922178 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.3612C>A (p.Pro1204=) |
single nucleotide variant |
not provided [RCV002183215] |
Chr11:77189452 [GRCh38] Chr11:76900497 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.1881C>G (p.Ala627=) |
single nucleotide variant |
not provided [RCV002200643] |
Chr11:77172831 [GRCh38] Chr11:76883877 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.3888G>A (p.Arg1296=) |
single nucleotide variant |
not provided [RCV002084367] |
Chr11:77190834 [GRCh38] Chr11:76901879 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.1818C>T (p.Arg606=) |
single nucleotide variant |
not provided [RCV002198766] |
Chr11:77172768 [GRCh38] Chr11:76883814 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.2511C>T (p.Leu837=) |
single nucleotide variant |
not provided [RCV002183568] |
Chr11:77179878 [GRCh38] Chr11:76890924 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.4153-20C>T |
single nucleotide variant |
not provided [RCV002217803] |
Chr11:77194334 [GRCh38] Chr11:76905379 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.2832C>T (p.Asp944=) |
single nucleotide variant |
not provided [RCV002178556] |
Chr11:77181517 [GRCh38] Chr11:76892563 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.4263G>A (p.Glu1421=) |
single nucleotide variant |
not provided [RCV002180126] |
Chr11:77194464 [GRCh38] Chr11:76905509 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.5469C>T (p.Asp1823=) |
single nucleotide variant |
not provided [RCV002140230] |
Chr11:77204218 [GRCh38] Chr11:76915263 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.4542A>G (p.Pro1514=) |
single nucleotide variant |
not provided [RCV002204364] |
Chr11:77198595 [GRCh38] Chr11:76909640 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.1302C>T (p.Gly434=) |
single nucleotide variant |
not provided [RCV002183764] |
Chr11:77161074 [GRCh38] Chr11:76872120 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.5733C>T (p.Asp1911=) |
single nucleotide variant |
not provided [RCV002155949] |
Chr11:77206193 [GRCh38] Chr11:76917238 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.6096G>A (p.Glu2032=) |
single nucleotide variant |
not provided [RCV002121507] |
Chr11:77211196 [GRCh38] Chr11:76922241 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.795T>C (p.Asp265=) |
single nucleotide variant |
not provided [RCV002180351] |
Chr11:77157338 [GRCh38] Chr11:76868384 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.4401C>T (p.Pro1467=) |
single nucleotide variant |
not provided [RCV002155746] |
Chr11:77197558 [GRCh38] Chr11:76908603 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.1554+19C>T |
single nucleotide variant |
not provided [RCV002177042] |
Chr11:77162349 [GRCh38] Chr11:76873395 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.3357G>A (p.Lys1119=) |
single nucleotide variant |
not provided [RCV002156046] |
Chr11:77183139 [GRCh38] Chr11:76894184 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.5742+9C>T |
single nucleotide variant |
not provided [RCV002203012] |
Chr11:77206211 [GRCh38] Chr11:76917256 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.3414G>A (p.Gln1138=) |
single nucleotide variant |
not provided [RCV002203026] |
Chr11:77184626 [GRCh38] Chr11:76895671 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.592+8C>T |
single nucleotide variant |
not provided [RCV002140544] |
Chr11:77156789 [GRCh38] Chr11:76867835 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.6285G>A (p.Glu2095=) |
single nucleotide variant |
not provided [RCV002137577] |
Chr11:77211868 [GRCh38] Chr11:76922913 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.6558+20G>A |
single nucleotide variant |
not provided [RCV002159376] |
Chr11:77213999 [GRCh38] Chr11:76925044 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.1004-8G>T |
single nucleotide variant |
not provided [RCV002157881] |
Chr11:77159439 [GRCh38] Chr11:76870485 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.3711T>C (p.Asn1237=) |
single nucleotide variant |
not provided [RCV002081647] |
Chr11:77190100 [GRCh38] Chr11:76901145 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.4527G>A (p.Leu1509=) |
single nucleotide variant |
not provided [RCV002203220] |
Chr11:77198580 [GRCh38] Chr11:76909625 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.1798-12_1798-11delinsTT |
indel |
not provided [RCV002137507] |
Chr11:77172736..77172737 [GRCh38] Chr11:76883782..76883783 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.1174C>T (p.Leu392=) |
single nucleotide variant |
not provided [RCV002098370] |
Chr11:77160256 [GRCh38] Chr11:76871302 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.5409C>A (p.Pro1803=) |
single nucleotide variant |
not provided [RCV002221010] |
Chr11:77204158 [GRCh38] Chr11:76915203 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.3468C>T (p.Phe1156=) |
single nucleotide variant |
not provided [RCV002216777] |
Chr11:77184680 [GRCh38] Chr11:76895725 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.5094G>A (p.Leu1698=) |
single nucleotide variant |
not provided [RCV002156272] |
Chr11:77202350 [GRCh38] Chr11:76913395 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.2187+10G>A |
single nucleotide variant |
not provided [RCV002081810] |
Chr11:77175474 [GRCh38] Chr11:76886520 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.2130G>A (p.Glu710=) |
single nucleotide variant |
not provided [RCV002179776] |
Chr11:77175407 [GRCh38] Chr11:76886453 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.4173G>A (p.Leu1391=) |
single nucleotide variant |
not provided [RCV002175986] |
Chr11:77194374 [GRCh38] Chr11:76905419 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.4080C>T (p.Asp1360=) |
single nucleotide variant |
not provided [RCV002098522] |
Chr11:77192206 [GRCh38] Chr11:76903251 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.5945-15T>C |
single nucleotide variant |
not provided [RCV002098828] |
Chr11:77208682 [GRCh38] Chr11:76919727 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.3402G>A (p.Glu1134=) |
single nucleotide variant |
not provided [RCV002118570] |
Chr11:77184614 [GRCh38] Chr11:76895659 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.2617C>A (p.Arg873=) |
single nucleotide variant |
not provided [RCV002154737] |
Chr11:77180404 [GRCh38] Chr11:76891450 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.5100G>T (p.Leu1700=) |
single nucleotide variant |
not provided [RCV002082182] |
Chr11:77202356 [GRCh38] Chr11:76913401 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.1003+11G>T |
single nucleotide variant |
not provided [RCV002082472] |
Chr11:77158441 [GRCh38] Chr11:76869487 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.6180G>T (p.Leu2060=) |
single nucleotide variant |
not provided [RCV002202567] |
Chr11:77211280 [GRCh38] Chr11:76922325 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.4442-10C>G |
single nucleotide variant |
not provided [RCV002157233] |
Chr11:77198485 [GRCh38] Chr11:76909530 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.4854A>G (p.Ala1618=) |
single nucleotide variant |
not provided [RCV002160433] |
Chr11:77201449 [GRCh38] Chr11:76912494 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.2019C>T (p.Pro673=) |
single nucleotide variant |
not provided [RCV002176458] |
Chr11:77174839 [GRCh38] Chr11:76885885 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.4857C>G (p.Gly1619=) |
single nucleotide variant |
not provided [RCV002204664] |
Chr11:77201452 [GRCh38] Chr11:76912497 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.1191C>G (p.Ala397=) |
single nucleotide variant |
not provided [RCV002202834] |
Chr11:77160273 [GRCh38] Chr11:76871319 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.132+10C>T |
single nucleotide variant |
not provided [RCV002199282] |
Chr11:77142832 [GRCh38] Chr11:76853878 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.81G>A (p.Val27=) |
single nucleotide variant |
not provided [RCV002218099] |
Chr11:77142771 [GRCh38] Chr11:76853817 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.3837G>T (p.Thr1279=) |
single nucleotide variant |
not provided [RCV002122300] |
Chr11:77190783 [GRCh38] Chr11:76901828 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.153G>A (p.Gln51=) |
single nucleotide variant |
not provided [RCV002184487] |
Chr11:77147818 [GRCh38] Chr11:76858864 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.5743-5C>T |
single nucleotide variant |
not provided [RCV002120858] |
Chr11:77207284 [GRCh38] Chr11:76918329 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.5743-12_5743-11inv |
inversion |
not provided [RCV002142590] |
Chr11:77207277..77207278 [GRCh38] Chr11:76918322..76918323 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.6388C>T (p.Leu2130=) |
single nucleotide variant |
not provided [RCV002219982] |
Chr11:77212985 [GRCh38] Chr11:76924030 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.5636+13C>T |
single nucleotide variant |
not provided [RCV002182513] |
Chr11:77205630 [GRCh38] Chr11:76916675 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.486C>A (p.Ala162=) |
single nucleotide variant |
not provided [RCV002122552] |
Chr11:77156675 [GRCh38] Chr11:76867721 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.1776C>T (p.Ile592=) |
single nucleotide variant |
not provided [RCV002142788] |
Chr11:77166141 [GRCh38] Chr11:76877187 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.1971G>A (p.Arg657=) |
single nucleotide variant |
not provided [RCV002184774] |
Chr11:77174791 [GRCh38] Chr11:76885837 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.2587-11C>T |
single nucleotide variant |
not provided [RCV003110591] |
Chr11:77180363 [GRCh38] Chr11:76891409 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.1797+7C>G |
single nucleotide variant |
not provided [RCV003110750] |
Chr11:77166169 [GRCh38] Chr11:76877215 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.5176C>G (p.Pro1726Ala) |
single nucleotide variant |
not provided [RCV003118105] |
Chr11:77203067 [GRCh38] Chr11:76914112 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.5670G>A (p.Val1890=) |
single nucleotide variant |
not provided [RCV003117029] |
Chr11:77206130 [GRCh38] Chr11:76917175 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.1344-17T>C |
single nucleotide variant |
not provided [RCV003111993] |
Chr11:77162103 [GRCh38] Chr11:76873149 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.3924+13G>A |
single nucleotide variant |
not provided [RCV003114877] |
Chr11:77190883 [GRCh38] Chr11:76901928 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.1210G>C (p.Gly404Arg) |
single nucleotide variant |
not provided [RCV003112742] |
Chr11:77160982 [GRCh38] Chr11:76872028 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.2586+5G>A |
single nucleotide variant |
not provided [RCV003112127] |
Chr11:77179958 [GRCh38] Chr11:76891004 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.5625G>C (p.Gln1875His) |
single nucleotide variant |
not provided [RCV003112822] |
Chr11:77205606 [GRCh38] Chr11:76916651 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.3167A>G (p.Lys1056Arg) |
single nucleotide variant |
not provided [RCV003112842] |
Chr11:77182482 [GRCh38] Chr11:76893527 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.3080T>C (p.Leu1027Pro) |
single nucleotide variant |
not provided [RCV003112221] |
Chr11:77182126 [GRCh38] Chr11:76893172 [GRCh37] Chr11:11q13.5 |
likely pathogenic |
NM_000260.4(MYO7A):c.2005C>G (p.Arg669Gly) |
single nucleotide variant |
not provided [RCV003121870] |
Chr11:77174825 [GRCh38] Chr11:76885871 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.5460G>A (p.Gln1820=) |
single nucleotide variant |
not provided [RCV003118739] |
Chr11:77204209 [GRCh38] Chr11:76915254 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.3373G>A (p.Glu1125Lys) |
single nucleotide variant |
not provided [RCV003121431] |
Chr11:77183155 [GRCh38] Chr11:76894200 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.133-18C>T |
single nucleotide variant |
not provided [RCV003121454] |
Chr11:77147780 [GRCh38] Chr11:76858826 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.5113C>A (p.Pro1705Thr) |
single nucleotide variant |
not provided [RCV003118862] |
Chr11:77202369 [GRCh38] Chr11:76913414 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.5337G>A (p.Lys1779=) |
single nucleotide variant |
not provided [RCV003120064] |
Chr11:77204086 [GRCh38] Chr11:76915131 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.2918G>A (p.Gly973Glu) |
single nucleotide variant |
not provided [RCV003129558] |
Chr11:77181964 [GRCh38] Chr11:76893010 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.3503+1G>T |
single nucleotide variant |
not provided [RCV003130957] |
Chr11:77184716 [GRCh38] Chr11:76895761 [GRCh37] Chr11:11q13.5 |
likely pathogenic |
NM_000260.4(MYO7A):c.140G>A (p.Trp47Ter) |
single nucleotide variant |
See cases [RCV003128547] |
Chr11:77147805 [GRCh38] Chr11:76858851 [GRCh37] Chr11:11q13.5 |
pathogenic |
NM_000260.4(MYO7A):c.5368C>A (p.Arg1790Ser) |
single nucleotide variant |
not provided [RCV003154178] |
Chr11:77204117 [GRCh38] Chr11:76915162 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.5327C>T (p.Ala1776Val) |
single nucleotide variant |
not provided [RCV003149472] |
Chr11:77204076 [GRCh38] Chr11:76915121 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.1355dup (p.Cys453fs) |
duplication |
not provided [RCV003130960] |
Chr11:77162130..77162131 [GRCh38] Chr11:76873176..76873177 [GRCh37] Chr11:11q13.5 |
likely pathogenic |
NM_000260.4(MYO7A):c.5716G>A (p.Val1906Ile) |
single nucleotide variant |
not provided [RCV002265442] |
Chr11:77206176 [GRCh38] Chr11:76917221 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.2164G>C (p.Gly722Arg) |
single nucleotide variant |
not provided [RCV002274591] |
Chr11:77175441 [GRCh38] Chr11:76886487 [GRCh37] Chr11:11q13.5 |
pathogenic|likely pathogenic |
NM_000260.4(MYO7A):c.1786G>A (p.Asp596Asn) |
single nucleotide variant |
not provided [RCV002283224] |
Chr11:77166151 [GRCh38] Chr11:76877197 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.1935+6T>C |
single nucleotide variant |
not specified [RCV003236396] |
Chr11:77172891 [GRCh38] Chr11:76883937 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.4304C>A (p.Ala1435Asp) |
single nucleotide variant |
not provided [RCV002265438] |
Chr11:77194505 [GRCh38] Chr11:76905550 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.2423A>G (p.Gln808Arg) |
single nucleotide variant |
not specified [RCV002282817] |
Chr11:77179790 [GRCh38] Chr11:76890836 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.2786T>C (p.Met929Thr) |
single nucleotide variant |
not provided [RCV002287090] |
Chr11:77181471 [GRCh38] Chr11:76892517 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.2020A>C (p.Ile674Leu) |
single nucleotide variant |
not provided [RCV002297345] |
Chr11:77174840 [GRCh38] Chr11:76885886 [GRCh37] Chr11:11q13.5 |
uncertain significance |
GRCh37/hg19 11p13-q25(chr11:32799481-134938470)x3 |
copy number gain |
MISSED ABORTION [RCV002282973] |
Chr11:32799481..134938470 [GRCh37] Chr11:11p13-q25 |
pathogenic |
NM_000260.4(MYO7A):c.471-2A>C |
single nucleotide variant |
Usher syndrome type 1 [RCV002463838] |
Chr11:77156658 [GRCh38] Chr11:76867704 [GRCh37] Chr11:11q13.5 |
likely pathogenic |
NM_000260.4(MYO7A):c.6221C>A (p.Pro2074His) |
single nucleotide variant |
not provided [RCV003149296] |
Chr11:77211321 [GRCh38] Chr11:76922366 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.2444A>G (p.Gln815Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV003302381] |
Chr11:77179811 [GRCh38] Chr11:76890857 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.430A>T (p.Asn144Tyr) |
single nucleotide variant |
not provided [RCV002303352] |
Chr11:77156051 [GRCh38] Chr11:76867097 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.4253C>G (p.Pro1418Arg) |
single nucleotide variant |
not provided [RCV002837877] |
Chr11:77194454 [GRCh38] Chr11:76905499 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.5073G>A (p.Arg1691=) |
single nucleotide variant |
not provided [RCV002681235] |
Chr11:77202329 [GRCh38] Chr11:76913374 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.2221G>A (p.Asp741Asn) |
single nucleotide variant |
Auditory neuropathy [RCV003484412]|not provided [RCV003234458] |
Chr11:77177582 [GRCh38] Chr11:76888628 [GRCh37] Chr11:11q13.5 |
likely pathogenic|uncertain significance |
NM_000260.4(MYO7A):c.1039C>A (p.Leu347Ile) |
single nucleotide variant |
not provided [RCV003131660] |
Chr11:77159482 [GRCh38] Chr11:76870528 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.2116del (p.Gln706fs) |
deletion |
Usher syndrome type 1 [RCV002308136] |
Chr11:77175392 [GRCh38] Chr11:76886438 [GRCh37] Chr11:11q13.5 |
likely pathogenic |
NM_000260.4(MYO7A):c.2779del (p.Glu927fs) |
deletion |
Usher syndrome type 1 [RCV002308225] |
Chr11:77181463 [GRCh38] Chr11:76892509 [GRCh37] Chr11:11q13.5 |
likely pathogenic |
NM_000260.4(MYO7A):c.2839_2840insGTATAAGAGACAG (p.Phe947fs) |
insertion |
Usher syndrome type 1 [RCV002308278] |
Chr11:77181524..77181525 [GRCh38] Chr11:76892570..76892571 [GRCh37] Chr11:11q13.5 |
likely pathogenic |
NM_000260.4(MYO7A):c.6307C>G (p.Leu2103Val) |
single nucleotide variant |
not provided [RCV002303457] |
Chr11:77211890 [GRCh38] Chr11:76922935 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.1534G>T (p.Glu512Ter) |
single nucleotide variant |
Usher syndrome type 1 [RCV002307334] |
Chr11:77162310 [GRCh38] Chr11:76873356 [GRCh37] Chr11:11q13.5 |
likely pathogenic |
NM_000260.4(MYO7A):c.5398T>C (p.Phe1800Leu) |
single nucleotide variant |
not provided [RCV002300333] |
Chr11:77204147 [GRCh38] Chr11:76915192 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.6403A>T (p.Lys2135Ter) |
single nucleotide variant |
Usher syndrome type 1 [RCV002308351] |
Chr11:77213000 [GRCh38] Chr11:76924045 [GRCh37] Chr11:11q13.5 |
likely pathogenic |
NM_000260.4(MYO7A):c.2998A>T (p.Lys1000Ter) |
single nucleotide variant |
Usher syndrome type 1 [RCV002309830] |
Chr11:77182044 [GRCh38] Chr11:76893090 [GRCh37] Chr11:11q13.5 |
likely pathogenic |
NM_000260.4(MYO7A):c.3779T>A (p.Leu1260Ter) |
single nucleotide variant |
Usher syndrome type 1 [RCV002309931] |
Chr11:77190725 [GRCh38] Chr11:76901770 [GRCh37] Chr11:11q13.5 |
likely pathogenic |
NM_000260.4(MYO7A):c.2743G>T (p.Glu915Ter) |
single nucleotide variant |
Usher syndrome type 1 [RCV002308436] |
Chr11:77181428 [GRCh38] Chr11:76892474 [GRCh37] Chr11:11q13.5 |
likely pathogenic |
NM_000260.4(MYO7A):c.1261C>A (p.Pro421Thr) |
single nucleotide variant |
not provided [RCV002299435] |
Chr11:77161033 [GRCh38] Chr11:76872079 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.3893G>A (p.Gly1298Glu) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 2 [RCV002444392] |
Chr11:77190839 [GRCh38] Chr11:76901884 [GRCh37] Chr11:11q13.5 |
likely pathogenic|uncertain significance |
NM_000260.4(MYO7A):c.1348G>T (p.Glu450Ter) |
single nucleotide variant |
Usher syndrome type 1 [RCV002308409] |
Chr11:77162124 [GRCh38] Chr11:76873170 [GRCh37] Chr11:11q13.5 |
likely pathogenic |
NM_000260.4(MYO7A):c.83_84del (p.Val28fs) |
deletion |
Usher syndrome type 1 [RCV002306798] |
Chr11:77142772..77142773 [GRCh38] Chr11:76853818..76853819 [GRCh37] Chr11:11q13.5 |
likely pathogenic |
NM_000260.4(MYO7A):c.602del (p.Asn201fs) |
deletion |
Usher syndrome type 1 [RCV002307016] |
Chr11:77156870 [GRCh38] Chr11:76867916 [GRCh37] Chr11:11q13.5 |
likely pathogenic |
NM_000260.4(MYO7A):c.802A>T (p.Lys268Ter) |
single nucleotide variant |
Usher syndrome type 1 [RCV002306622] |
Chr11:77157345 [GRCh38] Chr11:76868391 [GRCh37] Chr11:11q13.5 |
likely pathogenic |
NM_000260.4(MYO7A):c.3325C>A (p.His1109Asn) |
single nucleotide variant |
not provided [RCV002296858] |
Chr11:77183107 [GRCh38] Chr11:76894152 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.5994G>T (p.Trp1998Cys) |
single nucleotide variant |
not provided [RCV002296798] |
Chr11:77208746 [GRCh38] Chr11:76919791 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.3023A>G (p.Tyr1008Cys) |
single nucleotide variant |
not provided [RCV002308801] |
Chr11:77182069 [GRCh38] Chr11:76893115 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.1583_1584del (p.Leu528fs) |
deletion |
Usher syndrome type 1 [RCV002306887] |
Chr11:77162881..77162882 [GRCh38] Chr11:76873927..76873928 [GRCh37] Chr11:11q13.5 |
likely pathogenic |
NM_000260.4(MYO7A):c.1931_1932del (p.Pro644fs) |
deletion |
Usher syndrome type 1 [RCV002306905] |
Chr11:77172880..77172881 [GRCh38] Chr11:76883926..76883927 [GRCh37] Chr11:11q13.5 |
likely pathogenic |
NM_000260.4(MYO7A):c.2425C>T (p.Gln809Ter) |
single nucleotide variant |
Usher syndrome type 1 [RCV002307014] |
Chr11:77179792 [GRCh38] Chr11:76890838 [GRCh37] Chr11:11q13.5 |
likely pathogenic |
NM_000260.4(MYO7A):c.1069T>A (p.Ser357Thr) |
single nucleotide variant |
not provided [RCV002299242] |
Chr11:77159512 [GRCh38] Chr11:76870558 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.2441del (p.Arg814fs) |
deletion |
Usher syndrome type 1 [RCV002307942] |
Chr11:77179808 [GRCh38] Chr11:76890854 [GRCh37] Chr11:11q13.5 |
likely pathogenic |
NM_000260.4(MYO7A):c.275_278dup (p.Ile94fs) |
duplication |
Usher syndrome type 1 [RCV002306829] |
Chr11:77147939..77147940 [GRCh38] Chr11:76858985..76858986 [GRCh37] Chr11:11q13.5 |
likely pathogenic |
NM_000260.4(MYO7A):c.2077_2078delinsT (p.Lys693fs) |
indel |
Usher syndrome type 1 [RCV002306842] |
Chr11:77174897..77174898 [GRCh38] Chr11:76885943..76885944 [GRCh37] Chr11:11q13.5 |
likely pathogenic |
NM_000260.4(MYO7A):c.4363A>T (p.Lys1455Ter) |
single nucleotide variant |
Usher syndrome type 1 [RCV002308117] |
Chr11:77197520 [GRCh38] Chr11:76908565 [GRCh37] Chr11:11q13.5 |
likely pathogenic |
NM_000260.4(MYO7A):c.3612_3615del (p.Ser1205fs) |
deletion |
Autosomal recessive nonsyndromic hearing loss 2 [RCV002444393] |
Chr11:77189450..77189453 [GRCh38] Chr11:76900495..76900498 [GRCh37] Chr11:11q13.5 |
likely pathogenic |
NM_000260.4(MYO7A):c.2253del (p.Gln752fs) |
deletion |
Usher syndrome type 1 [RCV002306856] |
Chr11:77177613 [GRCh38] Chr11:76888659 [GRCh37] Chr11:11q13.5 |
pathogenic|likely pathogenic |
NM_000260.4(MYO7A):c.6355C>T (p.Gln2119Ter) |
single nucleotide variant |
Usher syndrome type 1 [RCV002306899] |
Chr11:77212952 [GRCh38] Chr11:76923997 [GRCh37] Chr11:11q13.5 |
likely pathogenic |
NM_000260.4(MYO7A):c.4528G>A (p.Glu1510Lys) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 2 [RCV002444394] |
Chr11:77198581 [GRCh38] Chr11:76909626 [GRCh37] Chr11:11q13.5 |
likely pathogenic |
NM_000260.4(MYO7A):c.2137_2138insAAAGGTT (p.Leu713fs) |
insertion |
Usher syndrome type 1 [RCV002307245] |
Chr11:77175414..77175415 [GRCh38] Chr11:76886460..76886461 [GRCh37] Chr11:11q13.5 |
likely pathogenic |
NM_000260.4(MYO7A):c.5275A>T (p.Lys1759Ter) |
single nucleotide variant |
Usher syndrome type 1 [RCV002309015] |
Chr11:77203166 [GRCh38] Chr11:76914211 [GRCh37] Chr11:11q13.5 |
likely pathogenic |
NM_000260.4(MYO7A):c.548C>A (p.Ser183Ter) |
single nucleotide variant |
Usher syndrome type 1 [RCV002309087] |
Chr11:77156737 [GRCh38] Chr11:76867783 [GRCh37] Chr11:11q13.5 |
likely pathogenic |
NM_000260.4(MYO7A):c.5692A>G (p.Lys1898Glu) |
single nucleotide variant |
not provided [RCV002294790] |
Chr11:77206152 [GRCh38] Chr11:76917197 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.2576_2577del (p.Leu859fs) |
deletion |
Usher syndrome type 1 [RCV002307862] |
Chr11:77179942..77179943 [GRCh38] Chr11:76890988..76890989 [GRCh37] Chr11:11q13.5 |
likely pathogenic |
NM_000260.4(MYO7A):c.2873G>A (p.Gly958Asp) |
single nucleotide variant |
not provided [RCV002302256] |
Chr11:77181558 [GRCh38] Chr11:76892604 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.1237A>T (p.Lys413Ter) |
single nucleotide variant |
Usher syndrome type 1 [RCV002309670] |
Chr11:77161009 [GRCh38] Chr11:76872055 [GRCh37] Chr11:11q13.5 |
likely pathogenic |
NM_000260.4(MYO7A):c.767del (p.Tyr256fs) |
deletion |
Usher syndrome type 1 [RCV002309892] |
Chr11:77157310 [GRCh38] Chr11:76868356 [GRCh37] Chr11:11q13.5 |
likely pathogenic |
NM_000260.4(MYO7A):c.1974C>G (p.Tyr658Ter) |
single nucleotide variant |
Usher syndrome type 1 [RCV002310071] |
Chr11:77174794 [GRCh38] Chr11:76885840 [GRCh37] Chr11:11q13.5 |
likely pathogenic |
NM_000260.4(MYO7A):c.5179A>T (p.Lys1727Ter) |
single nucleotide variant |
Usher syndrome type 1 [RCV002310329] |
Chr11:77203070 [GRCh38] Chr11:76914115 [GRCh37] Chr11:11q13.5 |
likely pathogenic |
NM_000260.4(MYO7A):c.379A>G (p.Ile127Val) |
single nucleotide variant |
not provided [RCV002299401] |
Chr11:77156000 [GRCh38] Chr11:76867046 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.2089A>T (p.Lys697Ter) |
single nucleotide variant |
Usher syndrome type 1 [RCV002308403] |
Chr11:77174909 [GRCh38] Chr11:76885955 [GRCh37] Chr11:11q13.5 |
likely pathogenic |
NM_000260.4(MYO7A):c.2287_2288del (p.Asn763fs) |
deletion |
Usher syndrome type 1 [RCV002310439] |
Chr11:77179049..77179050 [GRCh38] Chr11:76890095..76890096 [GRCh37] Chr11:11q13.5 |
likely pathogenic |
NM_000260.4(MYO7A):c.2648del (p.Glu883fs) |
deletion |
Usher syndrome type 1 [RCV002306470] |
Chr11:77180435 [GRCh38] Chr11:76891481 [GRCh37] Chr11:11q13.5 |
likely pathogenic |
NM_000260.4(MYO7A):c.1642C>T (p.Gln548Ter) |
single nucleotide variant |
Usher syndrome type 1 [RCV002307033] |
Chr11:77162940 [GRCh38] Chr11:76873986 [GRCh37] Chr11:11q13.5 |
likely pathogenic |
NM_000260.4(MYO7A):c.2702_2703insAA (p.Ala902fs) |
insertion |
Usher syndrome type 1 [RCV002307267] |
Chr11:77181387..77181388 [GRCh38] Chr11:76892433..76892434 [GRCh37] Chr11:11q13.5 |
likely pathogenic |
NM_000260.4(MYO7A):c.5385C>T (p.Leu1795=) |
single nucleotide variant |
not provided [RCV002842050] |
Chr11:77204134 [GRCh38] Chr11:76915179 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.2566C>A (p.His856Asn) |
single nucleotide variant |
not provided [RCV002462521] |
Chr11:77179933 [GRCh38] Chr11:76890979 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.2206C>T (p.Leu736=) |
single nucleotide variant |
not provided [RCV002993692] |
Chr11:77177567 [GRCh38] Chr11:76888613 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.1081-10C>T |
single nucleotide variant |
not provided [RCV002880467] |
Chr11:77160153 [GRCh38] Chr11:76871199 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.2317C>T (p.Leu773=) |
single nucleotide variant |
not provided [RCV002771221] |
Chr11:77179079 [GRCh38] Chr11:76890125 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.5328T>C (p.Ala1776=) |
single nucleotide variant |
not provided [RCV002838455] |
Chr11:77204077 [GRCh38] Chr11:76915122 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.6558+1G>T |
single nucleotide variant |
not provided [RCV002681432] |
Chr11:77213980 [GRCh38] Chr11:76925025 [GRCh37] Chr11:11q13.5 |
likely pathogenic |
NM_000260.4(MYO7A):c.2283-11T>A |
single nucleotide variant |
not provided [RCV002838336] |
Chr11:77179034 [GRCh38] Chr11:76890080 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.6300C>T (p.Phe2100=) |
single nucleotide variant |
not provided [RCV002815507] |
Chr11:77211883 [GRCh38] Chr11:76922928 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.3040del (p.Thr1014fs) |
deletion |
not provided [RCV002815961] |
Chr11:77182086 [GRCh38] Chr11:76893132 [GRCh37] Chr11:11q13.5 |
pathogenic |
NM_000260.4(MYO7A):c.4590A>G (p.Ser1530=) |
single nucleotide variant |
not provided [RCV002903886] |
Chr11:77199556 [GRCh38] Chr11:76910601 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.2217G>T (p.Glu739Asp) |
single nucleotide variant |
not provided [RCV002726565] |
Chr11:77177578 [GRCh38] Chr11:76888624 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.6102G>A (p.Val2034=) |
single nucleotide variant |
not provided [RCV002838674] |
Chr11:77211202 [GRCh38] Chr11:76922247 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.5898T>C (p.Val1966=) |
single nucleotide variant |
not provided [RCV002861265] |
Chr11:77208471 [GRCh38] Chr11:76919516 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.6051+19_6051+20del |
deletion |
not provided [RCV002616424] |
Chr11:77208822..77208823 [GRCh38] Chr11:76919867..76919868 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.5659C>T (p.Pro1887Ser) |
single nucleotide variant |
not provided [RCV003015663] |
Chr11:77206119 [GRCh38] Chr11:76917164 [GRCh37] Chr11:11q13.5 |
likely pathogenic |
NM_000260.4(MYO7A):c.6355-14A>T |
single nucleotide variant |
not provided [RCV002614817] |
Chr11:77212938 [GRCh38] Chr11:76923983 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.3625G>A (p.Val1209Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV002860478] |
Chr11:77189465 [GRCh38] Chr11:76900510 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.5920A>C (p.Lys1974Gln) |
single nucleotide variant |
not provided [RCV003033061] |
Chr11:77208493 [GRCh38] Chr11:76919538 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.1147T>C (p.Ser383Pro) |
single nucleotide variant |
not provided [RCV002838798] |
Chr11:77160229 [GRCh38] Chr11:76871275 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.1798-13T>C |
single nucleotide variant |
not provided [RCV002615261] |
Chr11:77172735 [GRCh38] Chr11:76883781 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.3139C>T (p.Arg1047Cys) |
single nucleotide variant |
not provided [RCV003074091] |
Chr11:77182454 [GRCh38] Chr11:76893499 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.4441+16C>T |
single nucleotide variant |
not provided [RCV002971815] |
Chr11:77197614 [GRCh38] Chr11:76908659 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.2624C>A (p.Ala875Glu) |
single nucleotide variant |
not provided [RCV003074733] |
Chr11:77180411 [GRCh38] Chr11:76891457 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.3513C>G (p.Ile1171Met) |
single nucleotide variant |
not provided [RCV003077055] |
Chr11:77189353 [GRCh38] Chr11:76900398 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.3246G>C (p.Thr1082=) |
single nucleotide variant |
not provided [RCV003035214] |
Chr11:77182561 [GRCh38] Chr11:76893606 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.2031C>T (p.Ser677=) |
single nucleotide variant |
not provided [RCV003017646] |
Chr11:77174851 [GRCh38] Chr11:76885897 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.2625G>T (p.Ala875=) |
single nucleotide variant |
not provided [RCV002880557] |
Chr11:77180412 [GRCh38] Chr11:76891458 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.3109-16_3109-15insTGCGCTCTGGCCTCTGACATG |
insertion |
not provided [RCV002462722] |
Chr11:77182389..77182390 [GRCh38] Chr11:76893434..76893435 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.5882T>A (p.Phe1961Tyr) |
single nucleotide variant |
not provided [RCV002820046] |
Chr11:77208455 [GRCh38] Chr11:76919500 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.3849C>T (p.Leu1283=) |
single nucleotide variant |
not provided [RCV003033777] |
Chr11:77190795 [GRCh38] Chr11:76901840 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.735+9G>C |
single nucleotide variant |
not provided [RCV002866033] |
Chr11:77157013 [GRCh38] Chr11:76868059 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.2964G>A (p.Leu988=) |
single nucleotide variant |
not provided [RCV002819668] |
Chr11:77182010 [GRCh38] Chr11:76893056 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.4421A>T (p.Tyr1474Phe) |
single nucleotide variant |
not provided [RCV003034295] |
Chr11:77197578 [GRCh38] Chr11:76908623 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.2587-19G>T |
single nucleotide variant |
not provided [RCV003077020] |
Chr11:77180355 [GRCh38] Chr11:76891401 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.1798-2A>G |
single nucleotide variant |
not provided [RCV002995025] |
Chr11:77172746 [GRCh38] Chr11:76883792 [GRCh37] Chr11:11q13.5 |
pathogenic |
NM_000260.4(MYO7A):c.2119C>T (p.Arg707Cys) |
single nucleotide variant |
not provided [RCV003075952] |
Chr11:77175396 [GRCh38] Chr11:76886442 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.2695-3C>T |
single nucleotide variant |
not provided [RCV003012436] |
Chr11:77181377 [GRCh38] Chr11:76892423 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.290A>G (p.Tyr97Cys) |
single nucleotide variant |
not provided [RCV002908573] |
Chr11:77155911 [GRCh38] Chr11:76866957 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.6354+10G>C |
single nucleotide variant |
not provided [RCV002971485] |
Chr11:77211947 [GRCh38] Chr11:76922992 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.3140G>T (p.Arg1047Leu) |
single nucleotide variant |
not provided [RCV002815907] |
Chr11:77182455 [GRCh38] Chr11:76893500 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.959A>G (p.Lys320Arg) |
single nucleotide variant |
not provided [RCV003076342] |
Chr11:77158386 [GRCh38] Chr11:76869432 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.2757T>C (p.Ala919=) |
single nucleotide variant |
not provided [RCV003033504] |
Chr11:77181442 [GRCh38] Chr11:76892488 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.5742+6G>A |
single nucleotide variant |
not provided [RCV003075895] |
Chr11:77206208 [GRCh38] Chr11:76917253 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.3059G>A (p.Arg1020Gln) |
single nucleotide variant |
Inborn genetic diseases [RCV002689389]|not provided [RCV003225259] |
Chr11:77182105 [GRCh38] Chr11:76893151 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.5696C>A (p.Thr1899Asn) |
single nucleotide variant |
not provided [RCV002613568] |
Chr11:77206156 [GRCh38] Chr11:76917201 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.1033G>A (p.Glu345Lys) |
single nucleotide variant |
not provided [RCV002461832] |
Chr11:77159476 [GRCh38] Chr11:76870522 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.3436C>T (p.Arg1146Trp) |
single nucleotide variant |
not provided [RCV003095844] |
Chr11:77184648 [GRCh38] Chr11:76895693 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.975C>T (p.Ile325=) |
single nucleotide variant |
not provided [RCV003016472] |
Chr11:77158402 [GRCh38] Chr11:76869448 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.1201-20G>A |
single nucleotide variant |
not provided [RCV003077053] |
Chr11:77160953 [GRCh38] Chr11:76871999 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.5599G>T (p.Ala1867Ser) |
single nucleotide variant |
not provided [RCV002838268] |
Chr11:77205580 [GRCh38] Chr11:76916625 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.6629G>A (p.Gly2210Asp) |
single nucleotide variant |
not provided [RCV002508367] |
Chr11:77214677 [GRCh38] Chr11:76925722 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.147T>A (p.Ser49=) |
single nucleotide variant |
not provided [RCV002994393] |
Chr11:77147812 [GRCh38] Chr11:76858858 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.6369A>C (p.Pro2123=) |
single nucleotide variant |
not provided [RCV002815358] |
Chr11:77212966 [GRCh38] Chr11:76924011 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.5346C>A (p.Gly1782=) |
single nucleotide variant |
not provided [RCV002971862] |
Chr11:77204095 [GRCh38] Chr11:76915140 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.5015C>G (p.Thr1672Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV002841066] |
Chr11:77201610 [GRCh38] Chr11:76912655 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.6354+15T>G |
single nucleotide variant |
not provided [RCV002617438] |
Chr11:77211952 [GRCh38] Chr11:76922997 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.5636+5A>G |
single nucleotide variant |
not provided [RCV002967837] |
Chr11:77205622 [GRCh38] Chr11:76916667 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.5601C>T (p.Ala1867=) |
single nucleotide variant |
not provided [RCV003012053] |
Chr11:77205582 [GRCh38] Chr11:76916627 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.2889A>C (p.Ala963=) |
single nucleotide variant |
not provided [RCV003015888] |
Chr11:77181574 [GRCh38] Chr11:76892620 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.4267A>T (p.Thr1423Ser) |
single nucleotide variant |
not provided [RCV002615811] |
Chr11:77194468 [GRCh38] Chr11:76905513 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.1217T>C (p.Leu406Pro) |
single nucleotide variant |
not provided [RCV002971478] |
Chr11:77160989 [GRCh38] Chr11:76872035 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.5754G>A (p.Val1918=) |
single nucleotide variant |
not provided [RCV003034012] |
Chr11:77207300 [GRCh38] Chr11:76918345 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.4571A>T (p.Glu1524Val) |
single nucleotide variant |
not provided [RCV003075512] |
Chr11:77199537 [GRCh38] Chr11:76910582 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.84G>A (p.Val28=) |
single nucleotide variant |
not provided [RCV002968022] |
Chr11:77142774 [GRCh38] Chr11:76853820 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.5358del (p.Lys1787fs) |
deletion |
not provided [RCV003013273] |
Chr11:77204106 [GRCh38] Chr11:76915151 [GRCh37] Chr11:11q13.5 |
pathogenic |
NM_000260.4(MYO7A):c.5760C>A (p.Ser1920=) |
single nucleotide variant |
not provided [RCV002837922] |
Chr11:77207306 [GRCh38] Chr11:76918351 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.5672A>C (p.Glu1891Ala) |
single nucleotide variant |
not provided [RCV002842200] |
Chr11:77206132 [GRCh38] Chr11:76917177 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.3630+12C>T |
single nucleotide variant |
not provided [RCV002731446] |
Chr11:77189482 [GRCh38] Chr11:76900527 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.325C>T (p.Gln109Ter) |
single nucleotide variant |
not provided [RCV002816439] |
Chr11:77155946 [GRCh38] Chr11:76866992 [GRCh37] Chr11:11q13.5 |
pathogenic |
NM_000260.4(MYO7A):c.593-1G>A |
single nucleotide variant |
not provided [RCV002880699] |
Chr11:77156861 [GRCh38] Chr11:76867907 [GRCh37] Chr11:11q13.5 |
likely pathogenic |
NM_000260.4(MYO7A):c.395C>G (p.Pro132Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV002728002] |
Chr11:77156016 [GRCh38] Chr11:76867062 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.3474C>A (p.Ile1158=) |
single nucleotide variant |
not provided [RCV002881190] |
Chr11:77184686 [GRCh38] Chr11:76895731 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.5035G>T (p.Glu1679Ter) |
single nucleotide variant |
not provided [RCV002991631] |
Chr11:77201630 [GRCh38] Chr11:76912675 [GRCh37] Chr11:11q13.5 |
pathogenic |
NM_000260.4(MYO7A):c.198C>T (p.Gly66=) |
single nucleotide variant |
not provided [RCV002686350] |
Chr11:77147863 [GRCh38] Chr11:76858909 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.1343+6G>C |
single nucleotide variant |
not provided [RCV002881261] |
Chr11:77161121 [GRCh38] Chr11:76872167 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.6598C>T (p.Gln2200Ter) |
single nucleotide variant |
not provided [RCV003033182] |
Chr11:77214646 [GRCh38] Chr11:76925691 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.4487C>T (p.Thr1496Met) |
single nucleotide variant |
not provided [RCV003074042] |
Chr11:77198540 [GRCh38] Chr11:76909585 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.3924+15A>T |
single nucleotide variant |
not provided [RCV002776526] |
Chr11:77190885 [GRCh38] Chr11:76901930 [GRCh37] Chr11:11q13.5 |
likely benign|uncertain significance |
NM_000260.4(MYO7A):c.4653G>A (p.Ala1551=) |
single nucleotide variant |
not provided [RCV003076685] |
Chr11:77199619 [GRCh38] Chr11:76910664 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.1754G>A (p.Arg585Lys) |
single nucleotide variant |
not provided [RCV002617787] |
Chr11:77166119 [GRCh38] Chr11:76877165 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.5636+20C>T |
single nucleotide variant |
not provided [RCV003034081] |
Chr11:77205637 [GRCh38] Chr11:76916682 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.5933C>A (p.Pro1978His) |
single nucleotide variant |
Inborn genetic diseases [RCV002879816] |
Chr11:77208506 [GRCh38] Chr11:76919551 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.4008G>A (p.Gln1336=) |
single nucleotide variant |
not provided [RCV002996817] |
Chr11:77192134 [GRCh38] Chr11:76903179 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.6369A>T (p.Pro2123=) |
single nucleotide variant |
not provided [RCV002903902] |
Chr11:77212966 [GRCh38] Chr11:76924011 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.3063A>C (p.Pro1021=) |
single nucleotide variant |
not provided [RCV002731080] |
Chr11:77182109 [GRCh38] Chr11:76893155 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.5856+4G>A |
single nucleotide variant |
not provided [RCV003016963] |
Chr11:77207406 [GRCh38] Chr11:76918451 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.3750+10T>C |
single nucleotide variant |
not provided [RCV002843101] |
Chr11:77190149 [GRCh38] Chr11:76901194 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.4419T>C (p.Phe1473=) |
single nucleotide variant |
not provided [RCV002975325] |
Chr11:77197576 [GRCh38] Chr11:76908621 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.211_215dup (p.Leu73fs) |
duplication |
not provided [RCV002861378] |
Chr11:77147874..77147875 [GRCh38] Chr11:76858920..76858921 [GRCh37] Chr11:11q13.5 |
pathogenic |
NM_000260.4(MYO7A):c.790dup (p.Glu264fs) |
duplication |
not provided [RCV002881037] |
Chr11:77157332..77157333 [GRCh38] Chr11:76868378..76868379 [GRCh37] Chr11:11q13.5 |
pathogenic |
NM_000260.4(MYO7A):c.5044-6C>T |
single nucleotide variant |
not provided [RCV002685884] |
Chr11:77202294 [GRCh38] Chr11:76913339 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.2586+18T>C |
single nucleotide variant |
not provided [RCV003076117] |
Chr11:77179971 [GRCh38] Chr11:76891017 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.5467G>A (p.Asp1823Asn) |
single nucleotide variant |
not provided [RCV003076824] |
Chr11:77204216 [GRCh38] Chr11:76915261 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.5263G>T (p.Ala1755Ser) |
single nucleotide variant |
not provided [RCV003076349] |
Chr11:77203154 [GRCh38] Chr11:76914199 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.3664_3673del (p.Gly1222fs) |
deletion |
not provided [RCV002861568] |
Chr11:77190048..77190057 [GRCh38] Chr11:76901093..76901102 [GRCh37] Chr11:11q13.5 |
pathogenic |
NM_000260.4(MYO7A):c.3108+7C>A |
single nucleotide variant |
not provided [RCV003033897] |
Chr11:77182161 [GRCh38] Chr11:76893207 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.3180C>T (p.Ala1060=) |
single nucleotide variant |
not provided [RCV003034707] |
Chr11:77182495 [GRCh38] Chr11:76893540 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.4012C>T (p.Arg1338Cys) |
single nucleotide variant |
not provided [RCV003075509] |
Chr11:77192138 [GRCh38] Chr11:76903183 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.114G>C (p.Val38=) |
single nucleotide variant |
not provided [RCV002863606] |
Chr11:77142804 [GRCh38] Chr11:76853850 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.2554G>T (p.Ala852Ser) |
single nucleotide variant |
not provided [RCV003014970] |
Chr11:77179921 [GRCh38] Chr11:76890967 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.6168C>T (p.Ile2056=) |
single nucleotide variant |
not provided [RCV003034520] |
Chr11:77211268 [GRCh38] Chr11:76922313 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.4893C>A (p.Asp1631Glu) |
single nucleotide variant |
not provided [RCV003074313] |
Chr11:77201488 [GRCh38] Chr11:76912533 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.3018C>T (p.Ala1006=) |
single nucleotide variant |
not provided [RCV002591014] |
Chr11:77182064 [GRCh38] Chr11:76893110 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.6284A>C (p.Glu2095Ala) |
single nucleotide variant |
not provided [RCV002571091] |
Chr11:77211867 [GRCh38] Chr11:76922912 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.6071G>A (p.Arg2024Gln) |
single nucleotide variant |
not provided [RCV003081333] |
Chr11:77211171 [GRCh38] Chr11:76922216 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.229A>C (p.Asn77His) |
single nucleotide variant |
not provided [RCV002640617] |
Chr11:77147894 [GRCh38] Chr11:76858940 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.807_808del (p.Lys269fs) |
deletion |
not provided [RCV002871492] |
Chr11:77157350..77157351 [GRCh38] Chr11:76868396..76868397 [GRCh37] Chr11:11q13.5 |
pathogenic |
NM_000260.4(MYO7A):c.2825_2833del (p.Met942_Asp944del) |
deletion |
not provided [RCV003003221] |
Chr11:77181506..77181514 [GRCh38] Chr11:76892552..76892560 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.150G>A (p.Pro50=) |
single nucleotide variant |
not provided [RCV003039638] |
Chr11:77147815 [GRCh38] Chr11:76858861 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.879G>T (p.Val293=) |
single nucleotide variant |
not provided [RCV002740313] |
Chr11:77158306 [GRCh38] Chr11:76869352 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.4248C>T (p.Tyr1416=) |
single nucleotide variant |
not provided [RCV002998720] |
Chr11:77194449 [GRCh38] Chr11:76905494 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.799AAG[2] (p.Lys269del) |
microsatellite |
not provided [RCV003037418] |
Chr11:77157340..77157342 [GRCh38] Chr11:76868386..76868388 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.3504-19T>G |
single nucleotide variant |
not provided [RCV003039431] |
Chr11:77189325 [GRCh38] Chr11:76900370 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.6052-15C>T |
single nucleotide variant |
not provided [RCV003054705] |
Chr11:77211137 [GRCh38] Chr11:76922182 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.2535C>T (p.Ala845=) |
single nucleotide variant |
not provided [RCV002871335] |
Chr11:77179902 [GRCh38] Chr11:76890948 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.4756A>G (p.Asn1586Asp) |
single nucleotide variant |
Inborn genetic diseases [RCV002784749] |
Chr11:77199722 [GRCh38] Chr11:76910767 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.6387C>T (p.Leu2129=) |
single nucleotide variant |
not provided [RCV002889787] |
Chr11:77212984 [GRCh38] Chr11:76924029 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.428T>G (p.Phe143Cys) |
single nucleotide variant |
not provided [RCV003053100] |
Chr11:77156049 [GRCh38] Chr11:76867095 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.3119C>T (p.Ala1040Val) |
single nucleotide variant |
not provided [RCV002662939] |
Chr11:77182434 [GRCh38] Chr11:76893479 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.1827A>G (p.Thr609=) |
single nucleotide variant |
not provided [RCV003039554] |
Chr11:77172777 [GRCh38] Chr11:76883823 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.6130del (p.Val2044fs) |
deletion |
not provided [RCV003039412] |
Chr11:77211228 [GRCh38] Chr11:76922273 [GRCh37] Chr11:11q13.5 |
pathogenic |
NM_000260.4(MYO7A):c.1776C>G (p.Ile592Met) |
single nucleotide variant |
not provided [RCV003038057] |
Chr11:77166141 [GRCh38] Chr11:76877187 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.344C>T (p.Ser115Leu) |
single nucleotide variant |
not provided [RCV003081425] |
Chr11:77155965 [GRCh38] Chr11:76867011 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.1190C>T (p.Ala397Val) |
single nucleotide variant |
not provided [RCV002622835] |
Chr11:77160272 [GRCh38] Chr11:76871318 [GRCh37] Chr11:11q13.5 |
likely pathogenic |
NM_000260.4(MYO7A):c.1820C>T (p.Ser607Leu) |
single nucleotide variant |
not provided [RCV002785681] |
Chr11:77172770 [GRCh38] Chr11:76883816 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.2732G>A (p.Arg911Gln) |
single nucleotide variant |
Inborn genetic diseases [RCV003081429]|not provided [RCV003081428] |
Chr11:77181417 [GRCh38] Chr11:76892463 [GRCh37] Chr11:11q13.5 |
likely benign|uncertain significance |
NM_000260.4(MYO7A):c.2834A>C (p.Lys945Thr) |
single nucleotide variant |
not provided [RCV003021790] |
Chr11:77181519 [GRCh38] Chr11:76892565 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.1713C>T (p.Asp571=) |
single nucleotide variant |
not provided [RCV002740083] |
Chr11:77166078 [GRCh38] Chr11:76877124 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.593-7T>C |
single nucleotide variant |
not provided [RCV003035361] |
Chr11:77156855 [GRCh38] Chr11:76867901 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.3109-6C>T |
single nucleotide variant |
not provided [RCV002824066] |
Chr11:77182418 [GRCh38] Chr11:76893463 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.3346C>T (p.Leu1116=) |
single nucleotide variant |
not provided [RCV003021655] |
Chr11:77183128 [GRCh38] Chr11:76894173 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.633C>T (p.Ser211=) |
single nucleotide variant |
not provided [RCV002663025] |
Chr11:77156902 [GRCh38] Chr11:76867948 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.6237+20C>T |
single nucleotide variant |
not provided [RCV002695602] |
Chr11:77211357 [GRCh38] Chr11:76922402 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.1809C>T (p.Thr603=) |
single nucleotide variant |
not provided [RCV003036742] |
Chr11:77172759 [GRCh38] Chr11:76883805 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.3531G>A (p.Lys1177=) |
single nucleotide variant |
not provided [RCV002570198] |
Chr11:77189371 [GRCh38] Chr11:76900416 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.5743-19T>C |
single nucleotide variant |
not provided [RCV002622832] |
Chr11:77207270 [GRCh38] Chr11:76918315 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.4968C>A (p.Thr1656=) |
single nucleotide variant |
not provided [RCV003055351] |
Chr11:77201563 [GRCh38] Chr11:76912608 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.396C>G (p.Pro132=) |
single nucleotide variant |
not provided [RCV002889581] |
Chr11:77156017 [GRCh38] Chr11:76867063 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.6238-4dup |
duplication |
not provided [RCV002889496] |
Chr11:77211816..77211817 [GRCh38] Chr11:76922861..76922862 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.3672C>T (p.Ala1224=) |
single nucleotide variant |
not provided [RCV002825381] |
Chr11:77190061 [GRCh38] Chr11:76901106 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.2694+16C>T |
single nucleotide variant |
not provided [RCV002824021] |
Chr11:77180497 [GRCh38] Chr11:76891543 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.5457G>A (p.Lys1819=) |
single nucleotide variant |
not provided [RCV003018763] |
Chr11:77204206 [GRCh38] Chr11:76915251 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.1342A>C (p.Ser448Arg) |
single nucleotide variant |
not provided [RCV002885692] |
Chr11:77161114 [GRCh38] Chr11:76872160 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.4096C>T (p.Leu1366Phe) |
single nucleotide variant |
not provided [RCV002705277] |
Chr11:77192222 [GRCh38] Chr11:76903267 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.316A>C (p.Asn106His) |
single nucleotide variant |
Inborn genetic diseases [RCV002868779] |
Chr11:77155937 [GRCh38] Chr11:76866983 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.2282+1G>A |
single nucleotide variant |
not provided [RCV002909331] |
Chr11:77177644 [GRCh38] Chr11:76888690 [GRCh37] Chr11:11q13.5 |
pathogenic |
NM_000260.4(MYO7A):c.2285C>T (p.Ser762Phe) |
single nucleotide variant |
not provided [RCV003078403] |
Chr11:77179047 [GRCh38] Chr11:76890093 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.348_349insCCCA (p.Glu117fs) |
insertion |
not provided [RCV002885602] |
Chr11:77155966..77155967 [GRCh38] Chr11:76867012..76867013 [GRCh37] Chr11:11q13.5 |
pathogenic |
NM_000260.4(MYO7A):c.2831A>T (p.Asp944Val) |
single nucleotide variant |
not provided [RCV002705616] |
Chr11:77181516 [GRCh38] Chr11:76892562 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.3924+10CCCGGAAGCACCTCCT[4] |
microsatellite |
not provided [RCV002868049] |
Chr11:77190879..77190880 [GRCh38] Chr11:76901924..76901925 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.1691-3C>T |
single nucleotide variant |
not provided [RCV002621339] |
Chr11:77166053 [GRCh38] Chr11:76877099 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.3751-7C>A |
single nucleotide variant |
not provided [RCV002824154] |
Chr11:77190690 [GRCh38] Chr11:76901735 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.447C>A (p.Ser149Arg) |
single nucleotide variant |
not provided [RCV002979385] |
Chr11:77156068 [GRCh38] Chr11:76867114 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.2282+4C>T |
single nucleotide variant |
not provided [RCV003077875] |
Chr11:77177647 [GRCh38] Chr11:76888693 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.6051+17T>G |
single nucleotide variant |
not provided [RCV002926678] |
Chr11:77208820 [GRCh38] Chr11:76919865 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.2991T>C (p.Ser997=) |
single nucleotide variant |
not provided [RCV002885200] |
Chr11:77182037 [GRCh38] Chr11:76893083 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.1738C>T (p.Leu580=) |
single nucleotide variant |
not provided [RCV002659308] |
Chr11:77166103 [GRCh38] Chr11:76877149 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.4239G>A (p.Val1413=) |
single nucleotide variant |
not provided [RCV002796303] |
Chr11:77194440 [GRCh38] Chr11:76905485 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.489G>C (p.Gly163=) |
single nucleotide variant |
not provided [RCV003036619] |
Chr11:77156678 [GRCh38] Chr11:76867724 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.721C>G (p.Arg241Gly) |
single nucleotide variant |
not provided [RCV003037417] |
Chr11:77156990 [GRCh38] Chr11:76868036 [GRCh37] Chr11:11q13.5 |
pathogenic |
NM_000260.4(MYO7A):c.3904del (p.Tyr1302fs) |
deletion |
not provided [RCV003037419] |
Chr11:77190850 [GRCh38] Chr11:76901895 [GRCh37] Chr11:11q13.5 |
pathogenic |
NM_000260.4(MYO7A):c.4814C>A (p.Ser1605Tyr) |
single nucleotide variant |
not provided [RCV003037421] |
Chr11:77199780 [GRCh38] Chr11:76910825 [GRCh37] Chr11:11q13.5 |
likely pathogenic |
NM_000260.4(MYO7A):c.3109-4C>G |
single nucleotide variant |
not provided [RCV002795234] |
Chr11:77182420 [GRCh38] Chr11:76893465 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.1123C>T (p.Leu375Phe) |
single nucleotide variant |
not provided [RCV002620210] |
Chr11:77160205 [GRCh38] Chr11:76871251 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.1477C>G (p.Gln493Glu) |
single nucleotide variant |
not provided [RCV002620460] |
Chr11:77162253 [GRCh38] Chr11:76873299 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.5488G>A (p.Glu1830Lys) |
single nucleotide variant |
not provided [RCV003077194] |
Chr11:77205469 [GRCh38] Chr11:76916514 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.5544C>T (p.Asn1848=) |
single nucleotide variant |
not provided [RCV003019572] |
Chr11:77205525 [GRCh38] Chr11:76916570 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.4610G>A (p.Gly1537Asp) |
single nucleotide variant |
not provided [RCV002844008] |
Chr11:77199576 [GRCh38] Chr11:76910621 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.1425G>A (p.Glu475=) |
single nucleotide variant |
not provided [RCV003019075] |
Chr11:77162201 [GRCh38] Chr11:76873247 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.1497T>C (p.Ile499=) |
single nucleotide variant |
not provided [RCV002620075] |
Chr11:77162273 [GRCh38] Chr11:76873319 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.1533T>C (p.Asp511=) |
single nucleotide variant |
not provided [RCV002620076] |
Chr11:77162309 [GRCh38] Chr11:76873355 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.3286-4G>T |
single nucleotide variant |
not provided [RCV002736539] |
Chr11:77183064 [GRCh38] Chr11:76894109 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.4113G>A (p.Val1371=) |
single nucleotide variant |
not provided [RCV002847826] |
Chr11:77192239 [GRCh38] Chr11:76903284 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.956C>T (p.Ser319Leu) |
single nucleotide variant |
not provided [RCV002658921] |
Chr11:77158383 [GRCh38] Chr11:76869429 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.399C>G (p.His133Gln) |
single nucleotide variant |
not provided [RCV002796330] |
Chr11:77156020 [GRCh38] Chr11:76867066 [GRCh37] Chr11:11q13.5 |
likely pathogenic |
NM_000260.4(MYO7A):c.6087C>T (p.Cys2029=) |
single nucleotide variant |
not provided [RCV002620146] |
Chr11:77211187 [GRCh38] Chr11:76922232 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.1004-1G>A |
single nucleotide variant |
not provided [RCV003052811] |
Chr11:77159446 [GRCh38] Chr11:76870492 [GRCh37] Chr11:11q13.5 |
likely pathogenic |
NM_000260.4(MYO7A):c.19G>C (p.Gly7Arg) |
single nucleotide variant |
not provided [RCV002590506] |
Chr11:77142709 [GRCh38] Chr11:76853755 [GRCh37] Chr11:11q13.5 |
pathogenic |
NM_000260.4(MYO7A):c.5196T>C (p.Arg1732=) |
single nucleotide variant |
not provided [RCV003037679] |
Chr11:77203087 [GRCh38] Chr11:76914132 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.6555A>G (p.Ser2185=) |
single nucleotide variant |
not provided [RCV003080381] |
Chr11:77213976 [GRCh38] Chr11:76925021 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.2109G>A (p.Gly703=) |
single nucleotide variant |
not provided [RCV002640101] |
Chr11:77175386 [GRCh38] Chr11:76886432 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.4819T>C (p.Tyr1607His) |
single nucleotide variant |
not provided [RCV002780472] |
Chr11:77199785 [GRCh38] Chr11:76910830 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.2263A>G (p.Ile755Val) |
single nucleotide variant |
not provided [RCV003078152] |
Chr11:77177624 [GRCh38] Chr11:76888670 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.3266C>A (p.Ala1089Asp) |
single nucleotide variant |
not provided [RCV002569758] |
Chr11:77182581 [GRCh38] Chr11:76893626 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.4848C>T (p.Asn1616=) |
single nucleotide variant |
not provided [RCV002569760] |
Chr11:77199814 [GRCh38] Chr11:76910859 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.1798-6C>T |
single nucleotide variant |
not provided [RCV003077468] |
Chr11:77172742 [GRCh38] Chr11:76883788 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.5617C>A (p.Arg1873=) |
single nucleotide variant |
not provided [RCV002695860] |
Chr11:77205598 [GRCh38] Chr11:76916643 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.2562G>C (p.Arg854Ser) |
single nucleotide variant |
not provided [RCV002800040] |
Chr11:77179929 [GRCh38] Chr11:76890975 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.2250C>T (p.Leu750=) |
single nucleotide variant |
not provided [RCV002999780] |
Chr11:77177611 [GRCh38] Chr11:76888657 [GRCh37] Chr11:11q13.5 |
likely benign |
NC_000011.10:g.77181959_77181994dup |
duplication |
not provided [RCV002705866] |
Chr11:77181948..77181949 [GRCh38] Chr11:76892994..76892995 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.3405C>T (p.Ser1135=) |
single nucleotide variant |
not provided [RCV002926699] |
Chr11:77184617 [GRCh38] Chr11:76895662 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.1822C>T (p.Pro608Ser) |
single nucleotide variant |
not provided [RCV002795149] |
Chr11:77172772 [GRCh38] Chr11:76883818 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.5918T>C (p.Ile1973Thr) |
single nucleotide variant |
not provided [RCV003038625] |
Chr11:77208491 [GRCh38] Chr11:76919536 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.149C>A (p.Pro50Gln) |
single nucleotide variant |
not provided [RCV002781283] |
Chr11:77147814 [GRCh38] Chr11:76858860 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.30G>A (p.Val10=) |
single nucleotide variant |
not provided [RCV002913280] |
Chr11:77142720 [GRCh38] Chr11:76853766 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.2787G>T (p.Met929Ile) |
single nucleotide variant |
not provided [RCV002761589] |
Chr11:77181472 [GRCh38] Chr11:76892518 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.2557C>A (p.Arg853Ser) |
single nucleotide variant |
not provided [RCV002735023] |
Chr11:77179924 [GRCh38] Chr11:76890970 [GRCh37] Chr11:11q13.5 |
likely pathogenic |
NM_000260.4(MYO7A):c.1554+4G>A |
single nucleotide variant |
not provided [RCV003077250] |
Chr11:77162334 [GRCh38] Chr11:76873380 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.4636G>C (p.Ala1546Pro) |
single nucleotide variant |
not provided [RCV002884981] |
Chr11:77199602 [GRCh38] Chr11:76910647 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.275A>G (p.His92Arg) |
single nucleotide variant |
not provided [RCV002999874] |
Chr11:77147940 [GRCh38] Chr11:76858986 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.1023G>C (p.Leu341=) |
single nucleotide variant |
not provided [RCV002695570] |
Chr11:77159466 [GRCh38] Chr11:76870512 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.3340T>C (p.Leu1114=) |
single nucleotide variant |
not provided [RCV003038847] |
Chr11:77183122 [GRCh38] Chr11:76894167 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.209T>C (p.Met70Thr) |
single nucleotide variant |
not provided [RCV002760820] |
Chr11:77147874 [GRCh38] Chr11:76858920 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.1343+16C>T |
single nucleotide variant |
not provided [RCV002780459] |
Chr11:77161131 [GRCh38] Chr11:76872177 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.156C>A (p.Asn52Lys) |
single nucleotide variant |
not provided [RCV002735186] |
Chr11:77147821 [GRCh38] Chr11:76858867 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.3412C>T (p.Gln1138Ter) |
single nucleotide variant |
not provided [RCV002848023] |
Chr11:77184624 [GRCh38] Chr11:76895669 [GRCh37] Chr11:11q13.5 |
pathogenic |
NM_000260.4(MYO7A):c.3285+5G>T |
single nucleotide variant |
not provided [RCV002591843] |
Chr11:77182605 [GRCh38] Chr11:76893650 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.1848G>A (p.Arg616=) |
single nucleotide variant |
not provided [RCV003021350] |
Chr11:77172798 [GRCh38] Chr11:76883844 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.6052-10_6052-5del |
deletion |
not provided [RCV002662671] |
Chr11:77211137..77211142 [GRCh38] Chr11:76922182..76922187 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.4555G>A (p.Val1519Met) |
single nucleotide variant |
not provided [RCV002976052] |
Chr11:77198608 [GRCh38] Chr11:76909653 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.1798-8C>A |
single nucleotide variant |
not provided [RCV002846960] |
Chr11:77172740 [GRCh38] Chr11:76883786 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.3859C>G (p.Leu1287Val) |
single nucleotide variant |
not provided [RCV002639372] |
Chr11:77190805 [GRCh38] Chr11:76901850 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.2187+13G>A |
single nucleotide variant |
not provided [RCV003018239] |
Chr11:77175477 [GRCh38] Chr11:76886523 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.4688C>T (p.Ala1563Val) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 11 [RCV003389086]|Inborn genetic diseases [RCV003078337]|not provided [RCV003093404] |
Chr11:77199654 [GRCh38] Chr11:76910699 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.1525C>T (p.Leu509Phe) |
single nucleotide variant |
not provided [RCV002592873] |
Chr11:77162301 [GRCh38] Chr11:76873347 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.1798-4C>G |
single nucleotide variant |
not provided [RCV002636768] |
Chr11:77172744 [GRCh38] Chr11:76883790 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.4059C>T (p.Pro1353=) |
single nucleotide variant |
not provided [RCV002620077] |
Chr11:77192185 [GRCh38] Chr11:76903230 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.3846G>A (p.Glu1282=) |
single nucleotide variant |
not provided [RCV002569524] |
Chr11:77190792 [GRCh38] Chr11:76901837 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.5854A>T (p.Lys1952Ter) |
single nucleotide variant |
not provided [RCV003054545] |
Chr11:77207400 [GRCh38] Chr11:76918445 [GRCh37] Chr11:11q13.5 |
pathogenic |
NM_000260.4(MYO7A):c.1699G>A (p.Glu567Lys) |
single nucleotide variant |
not provided [RCV002640051] |
Chr11:77166064 [GRCh38] Chr11:76877110 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.3896T>C (p.Phe1299Ser) |
single nucleotide variant |
not provided [RCV002846521] |
Chr11:77190842 [GRCh38] Chr11:76901887 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.649A>G (p.Ile217Val) |
single nucleotide variant |
not provided [RCV002785409] |
Chr11:77156918 [GRCh38] Chr11:76867964 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.3094G>A (p.Glu1032Lys) |
single nucleotide variant |
not provided [RCV002619513] |
Chr11:77182140 [GRCh38] Chr11:76893186 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.3698G>A (p.Arg1233Lys) |
single nucleotide variant |
not provided [RCV002510011] |
Chr11:77190087 [GRCh38] Chr11:76901132 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.6565A>C (p.Lys2189Gln) |
single nucleotide variant |
not provided [RCV002796643] |
Chr11:77214613 [GRCh38] Chr11:76925658 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.4712C>T (p.Thr1571Met) |
single nucleotide variant |
Inborn genetic diseases [RCV002868613] |
Chr11:77199678 [GRCh38] Chr11:76910723 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.2951C>T (p.Ala984Val) |
single nucleotide variant |
not provided [RCV002569778] |
Chr11:77181997 [GRCh38] Chr11:76893043 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.3588T>C (p.Ser1196=) |
single nucleotide variant |
not provided [RCV003055228] |
Chr11:77189428 [GRCh38] Chr11:76900473 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.3634C>T (p.Leu1212=) |
single nucleotide variant |
not provided [RCV002797367] |
Chr11:77190023 [GRCh38] Chr11:76901068 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.2533_2534del (p.Ala845fs) |
deletion |
not provided [RCV002889215] |
Chr11:77179900..77179901 [GRCh38] Chr11:76890946..76890947 [GRCh37] Chr11:11q13.5 |
pathogenic |
NM_000260.4(MYO7A):c.1746C>T (p.His582=) |
single nucleotide variant |
not provided [RCV003055124] |
Chr11:77166111 [GRCh38] Chr11:76877157 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.1332T>C (p.Phe444=) |
single nucleotide variant |
not provided [RCV003035906] |
Chr11:77161104 [GRCh38] Chr11:76872150 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.1798-4C>T |
single nucleotide variant |
not provided [RCV002659026] |
Chr11:77172744 [GRCh38] Chr11:76883790 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.5168G>A (p.Arg1723Lys) |
single nucleotide variant |
not provided [RCV002760289] |
Chr11:77202424 [GRCh38] Chr11:76913469 [GRCh37] Chr11:11q13.5 |
likely pathogenic |
NM_000260.4(MYO7A):c.6051+11C>G |
single nucleotide variant |
not provided [RCV002927272] |
Chr11:77208814 [GRCh38] Chr11:76919859 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.4175C>A (p.Ala1392Asp) |
single nucleotide variant |
not provided [RCV003038452] |
Chr11:77194376 [GRCh38] Chr11:76905421 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.6354+8A>G |
single nucleotide variant |
not provided [RCV002866209] |
Chr11:77211945 [GRCh38] Chr11:76922990 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.3392A>G (p.His1131Arg) |
single nucleotide variant |
not provided [RCV002619708] |
Chr11:77184604 [GRCh38] Chr11:76895649 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.735+5G>A |
single nucleotide variant |
not provided [RCV002847083] |
Chr11:77157009 [GRCh38] Chr11:76868055 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.1004-7C>G |
single nucleotide variant |
not provided [RCV002909330] |
Chr11:77159440 [GRCh38] Chr11:76870486 [GRCh37] Chr11:11q13.5 |
likely pathogenic |
NM_000260.4(MYO7A):c.1622C>A (p.Pro541His) |
single nucleotide variant |
not provided [RCV003100586] |
Chr11:77162920 [GRCh38] Chr11:76873966 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.4153-5C>A |
single nucleotide variant |
not provided [RCV002851369] |
Chr11:77194349 [GRCh38] Chr11:76905394 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.660C>T (p.His220=) |
single nucleotide variant |
not provided [RCV003005686] |
Chr11:77156929 [GRCh38] Chr11:76867975 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.805A>C (p.Lys269Gln) |
single nucleotide variant |
not provided [RCV002575252] |
Chr11:77157348 [GRCh38] Chr11:76868394 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.3345T>C (p.Thr1115=) |
single nucleotide variant |
not provided [RCV002852318] |
Chr11:77183127 [GRCh38] Chr11:76894172 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.2480A>T (p.Tyr827Phe) |
single nucleotide variant |
not provided [RCV002828797] |
Chr11:77179847 [GRCh38] Chr11:76890893 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.286-18A>T |
single nucleotide variant |
not provided [RCV002766732] |
Chr11:77155889 [GRCh38] Chr11:76866935 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.768C>T (p.Tyr256=) |
single nucleotide variant |
not provided [RCV002829437] |
Chr11:77157311 [GRCh38] Chr11:76868357 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.5636+4C>T |
single nucleotide variant |
not provided [RCV002875552] |
Chr11:77205621 [GRCh38] Chr11:76916666 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.1623C>A (p.Pro541=) |
single nucleotide variant |
not provided [RCV002932238] |
Chr11:77162921 [GRCh38] Chr11:76873967 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.2593_2602del (p.Trp865fs) |
deletion |
not provided [RCV002830049] |
Chr11:77180379..77180388 [GRCh38] Chr11:76891425..76891434 [GRCh37] Chr11:11q13.5 |
pathogenic |
NM_000260.4(MYO7A):c.604del (p.Ala202fs) |
deletion |
not provided [RCV002745229] |
Chr11:77156873 [GRCh38] Chr11:76867919 [GRCh37] Chr11:11q13.5 |
pathogenic |
NM_000260.4(MYO7A):c.6342C>T (p.Phe2114=) |
single nucleotide variant |
not provided [RCV003059740] |
Chr11:77211925 [GRCh38] Chr11:76922970 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.5856+17C>T |
single nucleotide variant |
not provided [RCV002701313] |
Chr11:77207419 [GRCh38] Chr11:76918464 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.6609A>G (p.Thr2203=) |
single nucleotide variant |
not provided [RCV002740863] |
Chr11:77214657 [GRCh38] Chr11:76925702 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.5389G>A (p.Asp1797Asn) |
single nucleotide variant |
not provided [RCV002918917] |
Chr11:77204138 [GRCh38] Chr11:76915183 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.4569-17G>A |
single nucleotide variant |
not provided [RCV002597316] |
Chr11:77199518 [GRCh38] Chr11:76910563 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.5170C>A (p.Pro1724Thr) |
single nucleotide variant |
not provided [RCV002918509] |
Chr11:77203061 [GRCh38] Chr11:76914106 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.2109G>T (p.Gly703=) |
single nucleotide variant |
not provided [RCV002876742] |
Chr11:77175386 [GRCh38] Chr11:76886432 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.516G>A (p.Leu172=) |
single nucleotide variant |
not provided [RCV003040085] |
Chr11:77156705 [GRCh38] Chr11:76867751 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.4371T>C (p.Asp1457=) |
single nucleotide variant |
not provided [RCV003040090] |
Chr11:77197528 [GRCh38] Chr11:76908573 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.1046C>G (p.Ser349Cys) |
single nucleotide variant |
not provided [RCV002805841] |
Chr11:77159489 [GRCh38] Chr11:76870535 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.1074G>A (p.Leu358=) |
single nucleotide variant |
not provided [RCV002876446] |
Chr11:77159517 [GRCh38] Chr11:76870563 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.2725G>A (p.Ala909Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV003170703]|not provided [RCV002929200] |
Chr11:77181410 [GRCh38] Chr11:76892456 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.5044-5C>T |
single nucleotide variant |
not provided [RCV002802087] |
Chr11:77202295 [GRCh38] Chr11:76913340 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.4441+15G>A |
single nucleotide variant |
not provided [RCV002742008] |
Chr11:77197613 [GRCh38] Chr11:76908658 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.1052C>T (p.Ser351Leu) |
single nucleotide variant |
not provided [RCV002958874] |
Chr11:77159495 [GRCh38] Chr11:76870541 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.5208C>T (p.Ser1736=) |
single nucleotide variant |
not provided [RCV002576070] |
Chr11:77203099 [GRCh38] Chr11:76914144 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.5340C>G (p.Tyr1780Ter) |
single nucleotide variant |
not provided [RCV002853225] |
Chr11:77204089 [GRCh38] Chr11:76915134 [GRCh37] Chr11:11q13.5 |
pathogenic |
NM_000260.4(MYO7A):c.1104C>T (p.Ser368=) |
single nucleotide variant |
not provided [RCV003043385] |
Chr11:77160186 [GRCh38] Chr11:76871232 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.551G>A (p.Trp184Ter) |
single nucleotide variant |
not provided [RCV003042882] |
Chr11:77156740 [GRCh38] Chr11:76867786 [GRCh37] Chr11:11q13.5 |
pathogenic |
NM_000260.4(MYO7A):c.671G>A (p.Arg224Gln) |
single nucleotide variant |
not provided [RCV002958326] |
Chr11:77156940 [GRCh38] Chr11:76867986 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.2283-7G>A |
single nucleotide variant |
not provided [RCV003008227] |
Chr11:77179038 [GRCh38] Chr11:76890084 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.984G>A (p.Leu328=) |
single nucleotide variant |
not provided [RCV002766221] |
Chr11:77158411 [GRCh38] Chr11:76869457 [GRCh37] Chr11:11q13.5 |
likely benign|conflicting interpretations of pathogenicity |
NM_000260.4(MYO7A):c.4161C>T (p.Asp1387=) |
single nucleotide variant |
not provided [RCV003082672] |
Chr11:77194362 [GRCh38] Chr11:76905407 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.6387C>G (p.Leu2129=) |
single nucleotide variant |
not provided [RCV002891194] |
Chr11:77212984 [GRCh38] Chr11:76924029 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.1634A>G (p.His545Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV003294411]|not provided [RCV003058392] |
Chr11:77162932 [GRCh38] Chr11:76873978 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.6050_6051+9del |
deletion |
not provided [RCV002663934] |
Chr11:77208799..77208809 [GRCh38] Chr11:76919844..76919854 [GRCh37] Chr11:11q13.5 |
likely pathogenic |
NM_000260.4(MYO7A):c.4687G>A (p.Ala1563Thr) |
single nucleotide variant |
not provided [RCV003056951] |
Chr11:77199653 [GRCh38] Chr11:76910698 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.3573C>A (p.Gly1191=) |
single nucleotide variant |
not provided [RCV003005589] |
Chr11:77189413 [GRCh38] Chr11:76900458 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.6290del (p.Lys2097fs) |
deletion |
not provided [RCV003040462] |
Chr11:77211872 [GRCh38] Chr11:76922917 [GRCh37] Chr11:11q13.5 |
pathogenic |
NM_000260.4(MYO7A):c.2046G>A (p.Val682=) |
single nucleotide variant |
not provided [RCV003082959] |
Chr11:77174866 [GRCh38] Chr11:76885912 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.3127A>C (p.Ile1043Leu) |
single nucleotide variant |
not provided [RCV002595255] |
Chr11:77182442 [GRCh38] Chr11:76893487 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.414T>C (p.Ala138=) |
single nucleotide variant |
not provided [RCV003023048] |
Chr11:77156035 [GRCh38] Chr11:76867081 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.2784G>A (p.Gln928=) |
single nucleotide variant |
not provided [RCV003057882] |
Chr11:77181469 [GRCh38] Chr11:76892515 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.1061C>T (p.Thr354Ile) |
single nucleotide variant |
not provided [RCV003023279] |
Chr11:77159504 [GRCh38] Chr11:76870550 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.6052-5G>A |
single nucleotide variant |
not provided [RCV002802176] |
Chr11:77211147 [GRCh38] Chr11:76922192 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.4875C>T (p.Leu1625=) |
single nucleotide variant |
not provided [RCV003057766] |
Chr11:77201470 [GRCh38] Chr11:76912515 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.5241C>G (p.His1747Gln) |
single nucleotide variant |
not provided [RCV003039894] |
Chr11:77203132 [GRCh38] Chr11:76914177 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.4236C>G (p.Leu1412=) |
single nucleotide variant |
not provided [RCV002801064] |
Chr11:77194437 [GRCh38] Chr11:76905482 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.2227del (p.Ala743fs) |
deletion |
not provided [RCV003084140] |
Chr11:77177588 [GRCh38] Chr11:76888634 [GRCh37] Chr11:11q13.5 |
pathogenic |
NM_000260.4(MYO7A):c.4868G>T (p.Gly1623Val) |
single nucleotide variant |
not provided [RCV002766334] |
Chr11:77201463 [GRCh38] Chr11:76912508 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.1407G>T (p.Val469=) |
single nucleotide variant |
not provided [RCV002711048] |
Chr11:77162183 [GRCh38] Chr11:76873229 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.3857C>T (p.Ala1286Val) |
single nucleotide variant |
not provided [RCV002625672] |
Chr11:77190803 [GRCh38] Chr11:76901848 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.2304G>A (p.Lys768=) |
single nucleotide variant |
not provided [RCV002711509] |
Chr11:77179066 [GRCh38] Chr11:76890112 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.6258C>T (p.Asn2086=) |
single nucleotide variant |
not provided [RCV002828891] |
Chr11:77211841 [GRCh38] Chr11:76922886 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.6355-3T>C |
single nucleotide variant |
not provided [RCV003022181] |
Chr11:77212949 [GRCh38] Chr11:76923994 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.5108C>A (p.Ala1703Glu) |
single nucleotide variant |
not provided [RCV002954147] |
Chr11:77202364 [GRCh38] Chr11:76913409 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.4043_4044del (p.Lys1348fs) |
deletion |
not provided [RCV003005542] |
Chr11:77192168..77192169 [GRCh38] Chr11:76903213..76903214 [GRCh37] Chr11:11q13.5 |
pathogenic |
NM_000260.4(MYO7A):c.2821G>A (p.Asp941Asn) |
single nucleotide variant |
not provided [RCV002642397] |
Chr11:77181506 [GRCh38] Chr11:76892552 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.904C>G (p.Arg302Gly) |
single nucleotide variant |
not provided [RCV002710172] |
Chr11:77158331 [GRCh38] Chr11:76869377 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.1133G>T (p.Arg378Leu) |
single nucleotide variant |
not provided [RCV002891004] |
Chr11:77160215 [GRCh38] Chr11:76871261 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.4806G>A (p.Arg1602=) |
single nucleotide variant |
not provided [RCV002932789] |
Chr11:77199772 [GRCh38] Chr11:76910817 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.4134G>A (p.Gly1378=) |
single nucleotide variant |
not provided [RCV002805519] |
Chr11:77192260 [GRCh38] Chr11:76903305 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.3625G>C (p.Val1209Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV002850700] |
Chr11:77189465 [GRCh38] Chr11:76900510 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.6453T>C (p.Thr2151=) |
single nucleotide variant |
not provided [RCV002852439] |
Chr11:77213874 [GRCh38] Chr11:76924919 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.5857-3C>T |
single nucleotide variant |
not provided [RCV003040036] |
Chr11:77208427 [GRCh38] Chr11:76919472 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.4591C>T (p.Leu1531=) |
single nucleotide variant |
not provided [RCV002851035] |
Chr11:77199557 [GRCh38] Chr11:76910602 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.6238-4A>G |
single nucleotide variant |
not provided [RCV003085104] |
Chr11:77211817 [GRCh38] Chr11:76922862 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.1641C>T (p.Thr547=) |
single nucleotide variant |
not provided [RCV002828473] |
Chr11:77162939 [GRCh38] Chr11:76873985 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.3265G>A (p.Ala1089Thr) |
single nucleotide variant |
not provided [RCV003024228] |
Chr11:77182580 [GRCh38] Chr11:76893625 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.4619C>A (p.Ala1540Glu) |
single nucleotide variant |
not provided [RCV002627123] |
Chr11:77199585 [GRCh38] Chr11:76910630 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.1622C>T (p.Pro541Leu) |
single nucleotide variant |
not provided [RCV003084538] |
Chr11:77162920 [GRCh38] Chr11:76873966 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.3333G>C (p.Leu1111=) |
single nucleotide variant |
not provided [RCV002958748] |
Chr11:77183115 [GRCh38] Chr11:76894160 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.5710C>T (p.His1904Tyr) |
single nucleotide variant |
not provided [RCV003006132] |
Chr11:77206170 [GRCh38] Chr11:76917215 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.6522G>C (p.Leu2174Phe) |
single nucleotide variant |
not provided [RCV002766579] |
Chr11:77213943 [GRCh38] Chr11:76924988 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.285C>T (p.Tyr95=) |
single nucleotide variant |
not provided [RCV002663403] |
Chr11:77147950 [GRCh38] Chr11:76858996 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.3108+11C>T |
single nucleotide variant |
not provided [RCV002701188] |
Chr11:77182165 [GRCh38] Chr11:76893211 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.3720G>A (p.Arg1240=) |
single nucleotide variant |
not provided [RCV003059558] |
Chr11:77190109 [GRCh38] Chr11:76901154 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.132+8G>A |
single nucleotide variant |
not provided [RCV002876597] |
Chr11:77142830 [GRCh38] Chr11:76853876 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.4631G>C (p.Gly1544Ala) |
single nucleotide variant |
Inborn genetic diseases [RCV002742288] |
Chr11:77199597 [GRCh38] Chr11:76910642 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.3082T>C (p.Tyr1028His) |
single nucleotide variant |
not provided [RCV003058010] |
Chr11:77182128 [GRCh38] Chr11:76893174 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.5547CCT[1] (p.Leu1851del) |
microsatellite |
not provided [RCV002791268] |
Chr11:77205527..77205529 [GRCh38] Chr11:76916572..76916574 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.388A>T (p.Met130Leu) |
single nucleotide variant |
not provided [RCV003056887] |
Chr11:77156009 [GRCh38] Chr11:76867055 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.593-17C>T |
single nucleotide variant |
not provided [RCV003083366] |
Chr11:77156845 [GRCh38] Chr11:76867891 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.3938G>A (p.Gly1313Asp) |
single nucleotide variant |
not provided [RCV002851658] |
Chr11:77192064 [GRCh38] Chr11:76903109 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.1449C>G (p.Asp483Glu) |
single nucleotide variant |
not provided [RCV003083383] |
Chr11:77162225 [GRCh38] Chr11:76873271 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.3821C>T (p.Thr1274Met) |
single nucleotide variant |
not provided [RCV003083845] |
Chr11:77190767 [GRCh38] Chr11:76901812 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.2188-7C>T |
single nucleotide variant |
not provided [RCV003042117] |
Chr11:77177542 [GRCh38] Chr11:76888588 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.471-12C>A |
single nucleotide variant |
not provided [RCV003084662] |
Chr11:77156648 [GRCh38] Chr11:76867694 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.5136C>T (p.Tyr1712=) |
single nucleotide variant |
not provided [RCV002576146] |
Chr11:77202392 [GRCh38] Chr11:76913437 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.6604C>T (p.Leu2202Phe) |
single nucleotide variant |
not provided [RCV002745494] |
Chr11:77214652 [GRCh38] Chr11:76925697 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.1190C>G (p.Ala397Gly) |
single nucleotide variant |
not provided [RCV003082127] |
Chr11:77160272 [GRCh38] Chr11:76871318 [GRCh37] Chr11:11q13.5 |
likely pathogenic |
NM_000260.4(MYO7A):c.6399C>A (p.Ile2133=) |
single nucleotide variant |
not provided [RCV002872181] |
Chr11:77212996 [GRCh38] Chr11:76924041 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.1798-3dup |
duplication |
not provided [RCV002642664] |
Chr11:77172739..77172740 [GRCh38] Chr11:76883785..76883786 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.2368-7C>T |
single nucleotide variant |
not provided [RCV002851923] |
Chr11:77179728 [GRCh38] Chr11:76890774 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.3453G>A (p.Leu1151=) |
single nucleotide variant |
not provided [RCV003085573] |
Chr11:77184665 [GRCh38] Chr11:76895710 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.2166C>T (p.Gly722=) |
single nucleotide variant |
not provided [RCV002741324] |
Chr11:77175443 [GRCh38] Chr11:76886489 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.5344G>A (p.Gly1782Ser) |
single nucleotide variant |
not provided [RCV002790471] |
Chr11:77204093 [GRCh38] Chr11:76915138 [GRCh37] Chr11:11q13.5 |
likely pathogenic |
NM_000260.4(MYO7A):c.1222G>C (p.Val408Leu) |
single nucleotide variant |
not provided [RCV002800737] |
Chr11:77160994 [GRCh38] Chr11:76872040 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.1203G>A (p.Gly401=) |
single nucleotide variant |
not provided [RCV003040332] |
Chr11:77160975 [GRCh38] Chr11:76872021 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.1860G>C (p.Leu620=) |
single nucleotide variant |
not provided [RCV002711727] |
Chr11:77172810 [GRCh38] Chr11:76883856 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.3630+13C>T |
single nucleotide variant |
not provided [RCV003059156] |
Chr11:77189483 [GRCh38] Chr11:76900528 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.1076_1077dup (p.Glu360fs) |
duplication |
not provided [RCV002894062] |
Chr11:77159518..77159519 [GRCh38] Chr11:76870564..76870565 [GRCh37] Chr11:11q13.5 |
pathogenic |
NM_000260.4(MYO7A):c.3015G>T (p.Ala1005=) |
single nucleotide variant |
not provided [RCV003040427] |
Chr11:77182061 [GRCh38] Chr11:76893107 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.3024C>T (p.Tyr1008=) |
single nucleotide variant |
not provided [RCV003024395] |
Chr11:77182070 [GRCh38] Chr11:76893116 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.1344-6C>T |
single nucleotide variant |
not provided [RCV003056059] |
Chr11:77162114 [GRCh38] Chr11:76873160 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.1842C>G (p.Phe614Leu) |
single nucleotide variant |
not provided [RCV003040495] |
Chr11:77172792 [GRCh38] Chr11:76883838 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.5213_5224del (p.Ala1738_Lys1741del) |
deletion |
not provided [RCV002893871] |
Chr11:77203099..77203110 [GRCh38] Chr11:76914144..76914155 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.1677C>G (p.Tyr559Ter) |
single nucleotide variant |
not provided [RCV002626701] |
Chr11:77162975 [GRCh38] Chr11:76874021 [GRCh37] Chr11:11q13.5 |
pathogenic |
NM_000260.4(MYO7A):c.2412G>A (p.Arg804=) |
single nucleotide variant |
not provided [RCV003024314] |
Chr11:77179779 [GRCh38] Chr11:76890825 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.5637-10G>T |
single nucleotide variant |
not provided [RCV003022490] |
Chr11:77206087 [GRCh38] Chr11:76917132 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.6355-15C>T |
single nucleotide variant |
not provided [RCV002623669] |
Chr11:77212937 [GRCh38] Chr11:76923982 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.3374A>G (p.Glu1125Gly) |
single nucleotide variant |
not provided [RCV003057256] |
Chr11:77183156 [GRCh38] Chr11:76894201 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.2432G>T (p.Arg811Leu) |
single nucleotide variant |
not provided [RCV003085290] |
Chr11:77179799 [GRCh38] Chr11:76890845 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.5161T>C (p.Tyr1721His) |
single nucleotide variant |
not provided [RCV002595182] |
Chr11:77202417 [GRCh38] Chr11:76913462 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.5230C>T (p.Leu1744=) |
single nucleotide variant |
not provided [RCV003024374] |
Chr11:77203121 [GRCh38] Chr11:76914166 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.3286-13G>C |
single nucleotide variant |
not provided [RCV002852395] |
Chr11:77183055 [GRCh38] Chr11:76894100 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.1817G>T (p.Arg606Leu) |
single nucleotide variant |
not provided [RCV003058120] |
Chr11:77172767 [GRCh38] Chr11:76883813 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.3630+9G>C |
single nucleotide variant |
not provided [RCV003084671] |
Chr11:77189479 [GRCh38] Chr11:76900524 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.3630+20C>T |
single nucleotide variant |
not provided [RCV003059077] |
Chr11:77189490 [GRCh38] Chr11:76900535 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.2418G>A (p.Leu806=) |
single nucleotide variant |
not provided [RCV002741888] |
Chr11:77179785 [GRCh38] Chr11:76890831 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.2962C>T (p.Leu988=) |
single nucleotide variant |
not provided [RCV002711855] |
Chr11:77182008 [GRCh38] Chr11:76893054 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.3430del (p.Glu1144fs) |
deletion |
not provided [RCV002890909] |
Chr11:77184641 [GRCh38] Chr11:76895686 [GRCh37] Chr11:11q13.5 |
pathogenic |
NM_000260.4(MYO7A):c.3924+8C>A |
single nucleotide variant |
not provided [RCV002985377] |
Chr11:77190878 [GRCh38] Chr11:76901923 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.707T>A (p.Leu236Gln) |
single nucleotide variant |
not provided [RCV003058341] |
Chr11:77156976 [GRCh38] Chr11:76868022 [GRCh37] Chr11:11q13.5 |
likely pathogenic |
NM_000260.4(MYO7A):c.5637-15C>T |
single nucleotide variant |
not provided [RCV003083327] |
Chr11:77206082 [GRCh38] Chr11:76917127 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.5168+10C>G |
single nucleotide variant |
not provided [RCV002711593] |
Chr11:77202434 [GRCh38] Chr11:76913479 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.1344-7C>T |
single nucleotide variant |
not provided [RCV002853195] |
Chr11:77162113 [GRCh38] Chr11:76873159 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.2399T>A (p.Leu800Gln) |
single nucleotide variant |
not provided [RCV002595306] |
Chr11:77179766 [GRCh38] Chr11:76890812 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.553A>G (p.Ile185Val) |
single nucleotide variant |
not provided [RCV002596266] |
Chr11:77156742 [GRCh38] Chr11:76867788 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.1797+9G>C |
single nucleotide variant |
not provided [RCV003042903] |
Chr11:77166171 [GRCh38] Chr11:76877217 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.4045G>T (p.Glu1349Ter) |
single nucleotide variant |
not provided [RCV002917413] |
Chr11:77192171 [GRCh38] Chr11:76903216 [GRCh37] Chr11:11q13.5 |
pathogenic |
NM_000260.4(MYO7A):c.2259A>T (p.Lys753Asn) |
single nucleotide variant |
not provided [RCV003057447] |
Chr11:77177620 [GRCh38] Chr11:76888666 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.6265G>A (p.Ala2089Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV003058742]|not provided [RCV003060463] |
Chr11:77211848 [GRCh38] Chr11:76922893 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.2982_2983dup (p.Asp995fs) |
duplication |
not provided [RCV002894196] |
Chr11:77182027..77182028 [GRCh38] Chr11:76893073..76893074 [GRCh37] Chr11:11q13.5 |
pathogenic |
NM_000260.4(MYO7A):c.918G>A (p.Lys306=) |
single nucleotide variant |
not provided [RCV002786722] |
Chr11:77158345 [GRCh38] Chr11:76869391 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.609G>C (p.Lys203Asn) |
single nucleotide variant |
not provided [RCV002630793] |
Chr11:77156878 [GRCh38] Chr11:76867924 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.1554+12C>T |
single nucleotide variant |
not provided [RCV002746583] |
Chr11:77162342 [GRCh38] Chr11:76873388 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.1649G>A (p.Gly550Asp) |
single nucleotide variant |
not provided [RCV002580679] |
Chr11:77162947 [GRCh38] Chr11:76873993 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.4324-12C>A |
single nucleotide variant |
not provided [RCV002632971] |
Chr11:77197469 [GRCh38] Chr11:76908514 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.5309C>G (p.Ala1770Gly) |
single nucleotide variant |
not provided [RCV002632982] |
Chr11:77203200 [GRCh38] Chr11:76914245 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.1385A>C (p.Gln462Pro) |
single nucleotide variant |
not provided [RCV003063715] |
Chr11:77162161 [GRCh38] Chr11:76873207 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.6219A>G (p.Ser2073=) |
single nucleotide variant |
not provided [RCV003048019] |
Chr11:77211319 [GRCh38] Chr11:76922364 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.1932C>A (p.Pro644=) |
single nucleotide variant |
not provided [RCV002966716] |
Chr11:77172882 [GRCh38] Chr11:76883928 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.3075A>C (p.Pro1025=) |
single nucleotide variant |
not provided [RCV003090966] |
Chr11:77182121 [GRCh38] Chr11:76893167 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.4771C>T (p.Arg1591Cys) |
single nucleotide variant |
not provided [RCV003092022] |
Chr11:77199737 [GRCh38] Chr11:76910782 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.77C>T (p.Ala26Val) |
single nucleotide variant |
not provided [RCV002632979] |
Chr11:77142767 [GRCh38] Chr11:76853813 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.4441+19T>A |
single nucleotide variant |
not provided [RCV003091078] |
Chr11:77197617 [GRCh38] Chr11:76908662 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.2405G>A (p.Arg802His) |
single nucleotide variant |
not provided [RCV002966273] |
Chr11:77179772 [GRCh38] Chr11:76890818 [GRCh37] Chr11:11q13.5 |
likely benign|conflicting interpretations of pathogenicity |
NM_000260.4(MYO7A):c.1031G>A (p.Cys344Tyr) |
single nucleotide variant |
not provided [RCV002670713] |
Chr11:77159474 [GRCh38] Chr11:76870520 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.2187+8C>T |
single nucleotide variant |
not provided [RCV002811942] |
Chr11:77175472 [GRCh38] Chr11:76886518 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.4891G>T (p.Asp1631Tyr) |
single nucleotide variant |
not provided [RCV002631288] |
Chr11:77201486 [GRCh38] Chr11:76912531 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.5742+13G>A |
single nucleotide variant |
not provided [RCV003063058] |
Chr11:77206215 [GRCh38] Chr11:76917260 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.981C>G (p.His327Gln) |
single nucleotide variant |
Inborn genetic diseases [RCV002813119] |
Chr11:77158408 [GRCh38] Chr11:76869454 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.4852+15G>T |
single nucleotide variant |
not provided [RCV003065269] |
Chr11:77199833 [GRCh38] Chr11:76910878 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.731G>T (p.Arg244Leu) |
single nucleotide variant |
not provided [RCV002602089] |
Chr11:77157000 [GRCh38] Chr11:76868046 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.3988G>A (p.Ala1330Thr) |
single nucleotide variant |
not provided [RCV002648028] |
Chr11:77192114 [GRCh38] Chr11:76903159 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.1300G>A (p.Gly434Ser) |
single nucleotide variant |
not provided [RCV003089281] |
Chr11:77161072 [GRCh38] Chr11:76872118 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.2587-10del |
deletion |
not provided [RCV003065777] |
Chr11:77180360 [GRCh38] Chr11:76891406 [GRCh37] Chr11:11q13.5 |
benign |
NM_000260.4(MYO7A):c.1111A>T (p.Thr371Ser) |
single nucleotide variant |
not provided [RCV003091628] |
Chr11:77160193 [GRCh38] Chr11:76871239 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.1722T>C (p.His574=) |
single nucleotide variant |
not provided [RCV002649734] |
Chr11:77166087 [GRCh38] Chr11:76877133 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.3815T>A (p.Leu1272Gln) |
single nucleotide variant |
not provided [RCV002810449] |
Chr11:77190761 [GRCh38] Chr11:76901806 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.4442-17C>T |
single nucleotide variant |
not provided [RCV003091302] |
Chr11:77198478 [GRCh38] Chr11:76909523 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.1540A>G (p.Ser514Gly) |
single nucleotide variant |
not provided [RCV002962714] |
Chr11:77162316 [GRCh38] Chr11:76873362 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.4076A>G (p.Glu1359Gly) |
single nucleotide variant |
not provided [RCV003089537] |
Chr11:77192202 [GRCh38] Chr11:76903247 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.183C>T (p.Pro61=) |
single nucleotide variant |
not provided [RCV002597572] |
Chr11:77147848 [GRCh38] Chr11:76858894 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.2694G>C (p.Gln898His) |
single nucleotide variant |
not provided [RCV003009782] |
Chr11:77180481 [GRCh38] Chr11:76891527 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.6237+18A>G |
single nucleotide variant |
not provided [RCV003087152] |
Chr11:77211355 [GRCh38] Chr11:76922400 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.1921T>A (p.Phe641Ile) |
single nucleotide variant |
not provided [RCV002962511] |
Chr11:77172871 [GRCh38] Chr11:76883917 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.3631-17G>A |
single nucleotide variant |
not provided [RCV002648047] |
Chr11:77190003 [GRCh38] Chr11:76901048 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.3129C>T (p.Ile1043=) |
single nucleotide variant |
not provided [RCV002834023] |
Chr11:77182444 [GRCh38] Chr11:76893489 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.267C>G (p.Tyr89Ter) |
single nucleotide variant |
not provided [RCV002834034] |
Chr11:77147932 [GRCh38] Chr11:76858978 [GRCh37] Chr11:11q13.5 |
pathogenic |
NM_000260.4(MYO7A):c.2134G>A (p.Val712Met) |
single nucleotide variant |
not provided [RCV002629976] |
Chr11:77175411 [GRCh38] Chr11:76886457 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.2367+10C>A |
single nucleotide variant |
not provided [RCV002877240] |
Chr11:77179139 [GRCh38] Chr11:76890185 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.1108C>T (p.Leu370=) |
single nucleotide variant |
not provided [RCV003011329] |
Chr11:77160190 [GRCh38] Chr11:76871236 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.6390A>C (p.Leu2130=) |
single nucleotide variant |
not provided [RCV002962844] |
Chr11:77212987 [GRCh38] Chr11:76924032 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.2296A>G (p.Lys766Glu) |
single nucleotide variant |
not provided [RCV002834947] |
Chr11:77179058 [GRCh38] Chr11:76890104 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.3637C>A (p.Arg1213=) |
single nucleotide variant |
not provided [RCV002899353] |
Chr11:77190026 [GRCh38] Chr11:76901071 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.247C>T (p.Arg83Cys) |
single nucleotide variant |
not provided [RCV003008530] |
Chr11:77147912 [GRCh38] Chr11:76858958 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.2230A>T (p.Ile744Phe) |
single nucleotide variant |
not provided [RCV003027162] |
Chr11:77177591 [GRCh38] Chr11:76888637 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.1344-8C>T |
single nucleotide variant |
not provided [RCV002807331] |
Chr11:77162112 [GRCh38] Chr11:76873158 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.189G>C (p.Ser63=) |
single nucleotide variant |
not provided [RCV003046747] |
Chr11:77147854 [GRCh38] Chr11:76858900 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.2113T>G (p.Cys705Gly) |
single nucleotide variant |
Inborn genetic diseases [RCV002584781]|not provided [RCV002598746] |
Chr11:77175390 [GRCh38] Chr11:76886436 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.1555-1G>C |
single nucleotide variant |
not provided [RCV003062432] |
Chr11:77162852 [GRCh38] Chr11:76873898 [GRCh37] Chr11:11q13.5 |
pathogenic |
NM_000260.4(MYO7A):c.2532G>A (p.Gln844=) |
single nucleotide variant |
not provided [RCV003009975] |
Chr11:77179899 [GRCh38] Chr11:76890945 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.5604C>A (p.Ile1868=) |
single nucleotide variant |
not provided [RCV003027876] |
Chr11:77205585 [GRCh38] Chr11:76916630 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.5948T>C (p.Ile1983Thr) |
single nucleotide variant |
not provided [RCV003087934] |
Chr11:77208700 [GRCh38] Chr11:76919745 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.5032C>T (p.Arg1678Trp) |
single nucleotide variant |
not provided [RCV003060418] |
Chr11:77201627 [GRCh38] Chr11:76912672 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.837C>T (p.Asn279=) |
single nucleotide variant |
not provided [RCV002672208] |
Chr11:77157380 [GRCh38] Chr11:76868426 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.2802T>G (p.His934Gln) |
single nucleotide variant |
not provided [RCV003060719] |
Chr11:77181487 [GRCh38] Chr11:76892533 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.6094G>C (p.Glu2032Gln) |
single nucleotide variant |
Inborn genetic diseases [RCV002809061] |
Chr11:77211194 [GRCh38] Chr11:76922239 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.5169-5_5169-4insA |
insertion |
not provided [RCV003028651] |
Chr11:77203055..77203056 [GRCh38] Chr11:76914100..76914101 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.286-9T>C |
single nucleotide variant |
not provided [RCV002834484] |
Chr11:77155898 [GRCh38] Chr11:76866944 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.6546C>A (p.Cys2182Ter) |
single nucleotide variant |
not provided [RCV003044265] |
Chr11:77213967 [GRCh38] Chr11:76925012 [GRCh37] Chr11:11q13.5 |
pathogenic |
NM_000260.4(MYO7A):c.5636+11C>T |
single nucleotide variant |
not provided [RCV002933511] |
Chr11:77205628 [GRCh38] Chr11:76916673 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.3492G>A (p.Arg1164=) |
single nucleotide variant |
not provided [RCV003027033] |
Chr11:77184704 [GRCh38] Chr11:76895749 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.5898_5899delinsGT (p.Arg1967Ter) |
indel |
not provided [RCV002856387] |
Chr11:77208471..77208472 [GRCh38] Chr11:76919516..76919517 [GRCh37] Chr11:11q13.5 |
pathogenic |
NM_000260.4(MYO7A):c.6030T>C (p.Asp2010=) |
single nucleotide variant |
not provided [RCV002857615] |
Chr11:77208782 [GRCh38] Chr11:76919827 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.2210A>G (p.Glu737Gly) |
single nucleotide variant |
not provided [RCV003062433] |
Chr11:77177571 [GRCh38] Chr11:76888617 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.2314A>G (p.Thr772Ala) |
single nucleotide variant |
not provided [RCV003048476] |
Chr11:77179076 [GRCh38] Chr11:76890122 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.1800C>T (p.Gly600=) |
single nucleotide variant |
not provided [RCV003088884] |
Chr11:77172750 [GRCh38] Chr11:76883796 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.2670G>C (p.Lys890Asn) |
single nucleotide variant |
not provided [RCV002938698] |
Chr11:77180457 [GRCh38] Chr11:76891503 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.3463C>T (p.His1155Tyr) |
single nucleotide variant |
not provided [RCV002811890] |
Chr11:77184675 [GRCh38] Chr11:76895720 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.1118G>A (p.Arg373His) |
single nucleotide variant |
not provided [RCV003009139] |
Chr11:77160200 [GRCh38] Chr11:76871246 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.5521A>G (p.Thr1841Ala) |
single nucleotide variant |
not provided [RCV003090138] |
Chr11:77205502 [GRCh38] Chr11:76916547 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.285+16C>A |
single nucleotide variant |
not provided [RCV002629851] |
Chr11:77147966 [GRCh38] Chr11:76859012 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.1798-20G>A |
single nucleotide variant |
not provided [RCV003065038] |
Chr11:77172728 [GRCh38] Chr11:76883774 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.1911G>A (p.Lys637=) |
single nucleotide variant |
not provided [RCV002933637] |
Chr11:77172861 [GRCh38] Chr11:76883907 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.3666C>T (p.Gly1222=) |
single nucleotide variant |
not provided [RCV002856219] |
Chr11:77190055 [GRCh38] Chr11:76901100 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.237G>A (p.Ala79=) |
single nucleotide variant |
not provided [RCV003045138] |
Chr11:77147902 [GRCh38] Chr11:76858948 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.4237G>C (p.Val1413Leu) |
single nucleotide variant |
not provided [RCV003061456] |
Chr11:77194438 [GRCh38] Chr11:76905483 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.1545G>A (p.Lys515=) |
single nucleotide variant |
not provided [RCV002810815] |
Chr11:77162321 [GRCh38] Chr11:76873367 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.121G>T (p.Asp41Tyr) |
single nucleotide variant |
not provided [RCV002650452] |
Chr11:77142811 [GRCh38] Chr11:76853857 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.1716C>T (p.Thr572=) |
single nucleotide variant |
not provided [RCV003030964] |
Chr11:77166081 [GRCh38] Chr11:76877127 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.6454C>T (p.His2152Tyr) |
single nucleotide variant |
not provided [RCV003060400] |
Chr11:77213875 [GRCh38] Chr11:76924920 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.5944+11C>T |
single nucleotide variant |
not provided [RCV003061195] |
Chr11:77208528 [GRCh38] Chr11:76919573 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.4853-8C>T |
single nucleotide variant |
not provided [RCV003061491] |
Chr11:77201440 [GRCh38] Chr11:76912485 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.1353G>A (p.Gln451=) |
single nucleotide variant |
not provided [RCV002834754] |
Chr11:77162129 [GRCh38] Chr11:76873175 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.1719G>A (p.Leu573=) |
single nucleotide variant |
not provided [RCV003010010] |
Chr11:77166084 [GRCh38] Chr11:76877130 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.3996G>A (p.Glu1332=) |
single nucleotide variant |
not provided [RCV003062656] |
Chr11:77192122 [GRCh38] Chr11:76903167 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.2619del (p.Leu874fs) |
deletion |
not provided [RCV002811675] |
Chr11:77180405 [GRCh38] Chr11:76891451 [GRCh37] Chr11:11q13.5 |
pathogenic |
NM_000260.4(MYO7A):c.5480+18G>T |
single nucleotide variant |
not provided [RCV003045849] |
Chr11:77204247 [GRCh38] Chr11:76915292 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.6237+12del |
deletion |
not provided [RCV003089986] |
Chr11:77211346 [GRCh38] Chr11:76922391 [GRCh37] Chr11:11q13.5 |
benign |
NM_000260.4(MYO7A):c.3298G>A (p.Glu1100Lys) |
single nucleotide variant |
not provided [RCV002630039] |
Chr11:77183080 [GRCh38] Chr11:76894125 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.4834C>T (p.Gln1612Ter) |
single nucleotide variant |
not provided [RCV003028842] |
Chr11:77199800 [GRCh38] Chr11:76910845 [GRCh37] Chr11:11q13.5 |
pathogenic |
NM_000260.4(MYO7A):c.5340C>A (p.Tyr1780Ter) |
single nucleotide variant |
not provided [RCV002806940] |
Chr11:77204089 [GRCh38] Chr11:76915134 [GRCh37] Chr11:11q13.5 |
pathogenic |
NM_000260.4(MYO7A):c.4081A>G (p.Asn1361Asp) |
single nucleotide variant |
not provided [RCV002631395] |
Chr11:77192207 [GRCh38] Chr11:76903252 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.2960C>G (p.Pro987Arg) |
single nucleotide variant |
not provided [RCV003044747] |
Chr11:77182006 [GRCh38] Chr11:76893052 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.1201-19G>A |
single nucleotide variant |
not provided [RCV003010424] |
Chr11:77160954 [GRCh38] Chr11:76872000 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.2801A>G (p.His934Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV003171046]|not provided [RCV003064843] |
Chr11:77181486 [GRCh38] Chr11:76892532 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.399C>T (p.His133=) |
single nucleotide variant |
not provided [RCV002598904] |
Chr11:77156020 [GRCh38] Chr11:76867066 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.6156C>T (p.Tyr2052=) |
single nucleotide variant |
not provided [RCV003011470] |
Chr11:77211256 [GRCh38] Chr11:76922301 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.2105G>A (p.Arg702His) |
single nucleotide variant |
not provided [RCV003062865] |
Chr11:77175382 [GRCh38] Chr11:76886428 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.5216G>T (p.Arg1739Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV002836204] |
Chr11:77203107 [GRCh38] Chr11:76914152 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.1200+16G>A |
single nucleotide variant |
not provided [RCV002966088] |
Chr11:77160298 [GRCh38] Chr11:76871344 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.5602A>G (p.Ile1868Val) |
single nucleotide variant |
not provided [RCV002715824] |
Chr11:77205583 [GRCh38] Chr11:76916628 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.3109-2A>G |
single nucleotide variant |
Usher syndrome type 1 [RCV003155502]|not provided [RCV003062434] |
Chr11:77182422 [GRCh38] Chr11:76893467 [GRCh37] Chr11:11q13.5 |
likely pathogenic |
NM_000260.4(MYO7A):c.3653G>C (p.Gly1218Ala) |
single nucleotide variant |
Inborn genetic diseases [RCV002748115] |
Chr11:77190042 [GRCh38] Chr11:76901087 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.735+18G>A |
single nucleotide variant |
not provided [RCV003045040] |
Chr11:77157022 [GRCh38] Chr11:76868068 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.2076G>A (p.Val692=) |
single nucleotide variant |
not provided [RCV003060720] |
Chr11:77174896 [GRCh38] Chr11:76885942 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.4735G>C (p.Glu1579Gln) |
single nucleotide variant |
not provided [RCV003029573] |
Chr11:77199701 [GRCh38] Chr11:76910746 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.582C>G (p.Pro194=) |
single nucleotide variant |
not provided [RCV003029965] |
Chr11:77156771 [GRCh38] Chr11:76867817 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.4437C>A (p.Phe1479Leu) |
single nucleotide variant |
not provided [RCV002922094] |
Chr11:77197594 [GRCh38] Chr11:76908639 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.5835_5836del (p.Phe1946fs) |
microsatellite |
not provided [RCV003045394] |
Chr11:77207379..77207380 [GRCh38] Chr11:76918424..76918425 [GRCh37] Chr11:11q13.5 |
pathogenic |
NM_000260.4(MYO7A):c.5487C>G (p.Ser1829Arg) |
single nucleotide variant |
not provided [RCV002647819] |
Chr11:77205468 [GRCh38] Chr11:76916513 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.1870A>T (p.Thr624Ser) |
single nucleotide variant |
not provided [RCV003087759] |
Chr11:77172820 [GRCh38] Chr11:76883866 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.5582G>A (p.Arg1861Gln) |
single nucleotide variant |
not provided [RCV002647846] |
Chr11:77205563 [GRCh38] Chr11:76916608 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.4650_4659del (p.Ala1551fs) |
deletion |
not provided [RCV002899258] |
Chr11:77199613..77199622 [GRCh38] Chr11:76910658..76910667 [GRCh37] Chr11:11q13.5 |
pathogenic |
NM_000260.4(MYO7A):c.2739G>A (p.Leu913=) |
single nucleotide variant |
not provided [RCV002627701] |
Chr11:77181424 [GRCh38] Chr11:76892470 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.5743-4C>T |
single nucleotide variant |
not provided [RCV002962012] |
Chr11:77207285 [GRCh38] Chr11:76918330 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.3315C>T (p.Ser1105=) |
single nucleotide variant |
not provided [RCV002857805] |
Chr11:77183097 [GRCh38] Chr11:76894142 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.4275G>A (p.Leu1425=) |
single nucleotide variant |
not provided [RCV002601413] |
Chr11:77194476 [GRCh38] Chr11:76905521 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.4646C>A (p.Thr1549Asn) |
single nucleotide variant |
not provided [RCV003031552] |
Chr11:77199612 [GRCh38] Chr11:76910657 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.3375+17G>A |
single nucleotide variant |
not provided [RCV002599056] |
Chr11:77183174 [GRCh38] Chr11:76894219 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.5353C>T (p.Pro1785Ser) |
single nucleotide variant |
not provided [RCV002676260] |
Chr11:77204102 [GRCh38] Chr11:76915147 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.5857-8_5857-7delinsTT |
indel |
not provided [RCV002715382] |
Chr11:77208422..77208423 [GRCh38] Chr11:76919467..76919468 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.4002C>T (p.Gly1334=) |
single nucleotide variant |
not provided [RCV003090139] |
Chr11:77192128 [GRCh38] Chr11:76903173 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.1127T>C (p.Ile376Thr) |
single nucleotide variant |
not provided [RCV002581545] |
Chr11:77160209 [GRCh38] Chr11:76871255 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.4246T>C (p.Tyr1416His) |
single nucleotide variant |
not provided [RCV003060359] |
Chr11:77194447 [GRCh38] Chr11:76905492 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.4300_4301delinsTG (p.Leu1434Trp) |
indel |
not provided [RCV002856490] |
Chr11:77194501..77194502 [GRCh38] Chr11:76905546..76905547 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.152_156dup (p.Ala53fs) |
duplication |
not provided [RCV002835254] |
Chr11:77147815..77147816 [GRCh38] Chr11:76858861..76858862 [GRCh37] Chr11:11q13.5 |
pathogenic |
NM_000260.4(MYO7A):c.3924+9_3924+24dup |
duplication |
not provided [RCV002856227] |
Chr11:77190876..77190877 [GRCh38] Chr11:76901921..76901922 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.2548A>G (p.Met850Val) |
single nucleotide variant |
not provided [RCV002602349] |
Chr11:77179915 [GRCh38] Chr11:76890961 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.1890C>A (p.Pro630=) |
single nucleotide variant |
not provided [RCV002834381] |
Chr11:77172840 [GRCh38] Chr11:76883886 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.5343G>A (p.Met1781Ile) |
single nucleotide variant |
not provided [RCV002580371] |
Chr11:77204092 [GRCh38] Chr11:76915137 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.285+1G>A |
single nucleotide variant |
not provided [RCV002631311] |
Chr11:77147951 [GRCh38] Chr11:76858997 [GRCh37] Chr11:11q13.5 |
pathogenic |
NM_000260.4(MYO7A):c.3126G>A (p.Trp1042Ter) |
single nucleotide variant |
not provided [RCV003031085] |
Chr11:77182441 [GRCh38] Chr11:76893486 [GRCh37] Chr11:11q13.5 |
pathogenic |
NM_000260.4(MYO7A):c.4587C>T (p.Leu1529=) |
single nucleotide variant |
not provided [RCV002877334] |
Chr11:77199553 [GRCh38] Chr11:76910598 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.233A>C (p.Glu78Ala) |
single nucleotide variant |
not provided [RCV002877408] |
Chr11:77147898 [GRCh38] Chr11:76858944 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.3376-9C>G |
single nucleotide variant |
not provided [RCV002857508] |
Chr11:77184579 [GRCh38] Chr11:76895624 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.5281C>T (p.Leu1761=) |
single nucleotide variant |
not provided [RCV003030191] |
Chr11:77203172 [GRCh38] Chr11:76914217 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.1860G>T (p.Leu620=) |
single nucleotide variant |
not provided [RCV002833306] |
Chr11:77172810 [GRCh38] Chr11:76883856 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.6548A>G (p.Glu2183Gly) |
single nucleotide variant |
not provided [RCV002770929] |
Chr11:77213969 [GRCh38] Chr11:76925014 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.5857-6C>T |
single nucleotide variant |
not provided [RCV002653218] |
Chr11:77208424 [GRCh38] Chr11:76919469 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.6182G>A (p.Arg2061Gln) |
single nucleotide variant |
Inborn genetic diseases [RCV003051298]|not provided [RCV003051297] |
Chr11:77211282 [GRCh38] Chr11:76922327 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.4260C>T (p.Arg1420=) |
single nucleotide variant |
not provided [RCV002654550] |
Chr11:77194461 [GRCh38] Chr11:76905506 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.2624C>T (p.Ala875Val) |
single nucleotide variant |
not provided [RCV003068297] |
Chr11:77180411 [GRCh38] Chr11:76891457 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.4334C>A (p.Ala1445Asp) |
single nucleotide variant |
not provided [RCV002944307] |
Chr11:77197491 [GRCh38] Chr11:76908536 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.2542C>T (p.Arg848Trp) |
single nucleotide variant |
not provided [RCV003067605] |
Chr11:77179909 [GRCh38] Chr11:76890955 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.4519G>A (p.Val1507Ile) |
single nucleotide variant |
not provided [RCV002605379] |
Chr11:77198572 [GRCh38] Chr11:76909617 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.4068C>G (p.Ser1356Arg) |
single nucleotide variant |
not provided [RCV002725907] |
Chr11:77192194 [GRCh38] Chr11:76903239 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.5794G>A (p.Ala1932Thr) |
single nucleotide variant |
not provided [RCV002654741] |
Chr11:77207340 [GRCh38] Chr11:76918385 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.96C>T (p.Asp32=) |
single nucleotide variant |
not provided [RCV002725926] |
Chr11:77142786 [GRCh38] Chr11:76853832 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.4748C>T (p.Thr1583Ile) |
single nucleotide variant |
not provided [RCV002654856] |
Chr11:77199714 [GRCh38] Chr11:76910759 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.5247G>T (p.Arg1749=) |
single nucleotide variant |
not provided [RCV003067945] |
Chr11:77203138 [GRCh38] Chr11:76914183 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.6354+1G>C |
single nucleotide variant |
not provided [RCV003066076] |
Chr11:77211938 [GRCh38] Chr11:76922983 [GRCh37] Chr11:11q13.5 |
pathogenic |
NM_000260.4(MYO7A):c.3866A>G (p.Asp1289Gly) |
single nucleotide variant |
not provided [RCV002721340] |
Chr11:77190812 [GRCh38] Chr11:76901857 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.3634C>G (p.Leu1212Val) |
single nucleotide variant |
not provided [RCV002633827] |
Chr11:77190023 [GRCh38] Chr11:76901068 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.1008C>T (p.Arg336=) |
single nucleotide variant |
not provided [RCV003092275] |
Chr11:77159451 [GRCh38] Chr11:76870497 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.4159G>A (p.Asp1387Asn) |
single nucleotide variant |
not provided [RCV003068193] |
Chr11:77194360 [GRCh38] Chr11:76905405 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.2683C>A (p.Arg895Ser) |
single nucleotide variant |
not provided [RCV002634592] |
Chr11:77180470 [GRCh38] Chr11:76891516 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.3637C>T (p.Arg1213Trp) |
single nucleotide variant |
not provided [RCV002605965] |
Chr11:77190026 [GRCh38] Chr11:76901071 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.47_48delinsCT (p.Leu16Ser) |
indel |
not provided [RCV002721473] |
Chr11:77142737..77142738 [GRCh38] Chr11:76853783..76853784 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.2155T>C (p.Trp719Arg) |
single nucleotide variant |
not provided [RCV002722075] |
Chr11:77175432 [GRCh38] Chr11:76886478 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.1461C>G (p.Ile487Met) |
single nucleotide variant |
not provided [RCV002654596] |
Chr11:77162237 [GRCh38] Chr11:76873283 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.1668C>A (p.Gly556=) |
single nucleotide variant |
not provided [RCV003071490] |
Chr11:77162966 [GRCh38] Chr11:76874012 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.5586G>A (p.Lys1862=) |
single nucleotide variant |
not provided [RCV003066331] |
Chr11:77205567 [GRCh38] Chr11:76916612 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.5567G>A (p.Arg1856His) |
single nucleotide variant |
not provided [RCV002609545] |
Chr11:77205548 [GRCh38] Chr11:76916593 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.473_475del (p.Gly158del) |
deletion |
not provided [RCV002634685] |
Chr11:77156661..77156663 [GRCh38] Chr11:76867707..76867709 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.1238A>G (p.Lys413Arg) |
single nucleotide variant |
not provided [RCV003070420] |
Chr11:77161010 [GRCh38] Chr11:76872056 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.4640G>T (p.Gly1547Val) |
single nucleotide variant |
not provided [RCV003072881] |
Chr11:77199606 [GRCh38] Chr11:76910651 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.3259C>T (p.Leu1087=) |
single nucleotide variant |
not provided [RCV002609893] |
Chr11:77182574 [GRCh38] Chr11:76893619 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.1289G>A (p.Arg430His) |
single nucleotide variant |
not provided [RCV002654993] |
Chr11:77161061 [GRCh38] Chr11:76872107 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.2596C>T (p.Arg866Cys) |
single nucleotide variant |
not provided [RCV003071910] |
Chr11:77180383 [GRCh38] Chr11:76891429 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.6619A>T (p.Lys2207Ter) |
single nucleotide variant |
not provided [RCV002589691] |
Chr11:77214667 [GRCh38] Chr11:76925712 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.274del (p.His92fs) |
deletion |
not provided [RCV002814585] |
Chr11:77147938 [GRCh38] Chr11:76858984 [GRCh37] Chr11:11q13.5 |
pathogenic |
NM_000260.4(MYO7A):c.1672G>A (p.Val558Ile) |
single nucleotide variant |
not provided [RCV003051213] |
Chr11:77162970 [GRCh38] Chr11:76874016 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.1435C>T (p.Leu479=) |
single nucleotide variant |
not provided [RCV003072065] |
Chr11:77162211 [GRCh38] Chr11:76873257 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.6105G>A (p.Leu2035=) |
single nucleotide variant |
not provided [RCV002589922] |
Chr11:77211205 [GRCh38] Chr11:76922250 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.1630A>T (p.Asn544Tyr) |
single nucleotide variant |
not provided [RCV003092203] |
Chr11:77162928 [GRCh38] Chr11:76873974 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.6509C>G (p.Thr2170Ser) |
single nucleotide variant |
not provided [RCV002604132] |
Chr11:77213930 [GRCh38] Chr11:76924975 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.1797+14G>A |
single nucleotide variant |
not provided [RCV003067985] |
Chr11:77166176 [GRCh38] Chr11:76877222 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.2675A>G (p.Glu892Gly) |
single nucleotide variant |
not provided [RCV002585343] |
Chr11:77180462 [GRCh38] Chr11:76891508 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.5326+17del |
deletion |
not provided [RCV002606037] |
Chr11:77203232 [GRCh38] Chr11:76914277 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.5743-9C>G |
single nucleotide variant |
not provided [RCV002635752] |
Chr11:77207280 [GRCh38] Chr11:76918325 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.3098dup (p.Gly1033_Asp1034insTer) |
duplication |
not provided [RCV002814744] |
Chr11:77182141..77182142 [GRCh38] Chr11:76893187..76893188 [GRCh37] Chr11:11q13.5 |
pathogenic |
NM_000260.4(MYO7A):c.5605G>A (p.Asp1869Asn) |
single nucleotide variant |
Inborn genetic diseases [RCV002655848] |
Chr11:77205586 [GRCh38] Chr11:76916631 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.6463A>G (p.Thr2155Ala) |
single nucleotide variant |
not provided [RCV002606148] |
Chr11:77213884 [GRCh38] Chr11:76924929 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.592+19G>C |
single nucleotide variant |
not provided [RCV003073448] |
Chr11:77156800 [GRCh38] Chr11:76867846 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.5784C>T (p.Cys1928=) |
single nucleotide variant |
not provided [RCV002721380] |
Chr11:77207330 [GRCh38] Chr11:76918375 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.688G>A (p.Ala230Thr) |
single nucleotide variant |
not provided [RCV002585575] |
Chr11:77156957 [GRCh38] Chr11:76868003 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.5052C>T (p.Val1684=) |
single nucleotide variant |
not provided [RCV002586525] |
Chr11:77202308 [GRCh38] Chr11:76913353 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.4907A>C (p.Asp1636Ala) |
single nucleotide variant |
not provided [RCV002608189] |
Chr11:77201502 [GRCh38] Chr11:76912547 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.673G>A (p.Gly225Ser) |
single nucleotide variant |
not provided [RCV002588423] |
Chr11:77156942 [GRCh38] Chr11:76867988 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.6314T>A (p.Phe2105Tyr) |
single nucleotide variant |
Inborn genetic diseases [RCV003050971]|not provided [RCV003050972] |
Chr11:77211897 [GRCh38] Chr11:76922942 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.2140G>A (p.Gly714Ser) |
single nucleotide variant |
not provided [RCV003071404] |
Chr11:77175417 [GRCh38] Chr11:76886463 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.4858G>A (p.Glu1620Lys) |
single nucleotide variant |
not provided [RCV003067830] |
Chr11:77201453 [GRCh38] Chr11:76912498 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.1757A>G (p.Asn586Ser) |
single nucleotide variant |
not provided [RCV003051119] |
Chr11:77166122 [GRCh38] Chr11:76877168 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.2282+4C>A |
single nucleotide variant |
not provided [RCV002611064] |
Chr11:77177647 [GRCh38] Chr11:76888693 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.6636G>A (p.Arg2212=) |
single nucleotide variant |
not provided [RCV002582727] |
Chr11:77214684 [GRCh38] Chr11:76925729 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.2985C>T (p.Asp995=) |
single nucleotide variant |
not provided [RCV002604540] |
Chr11:77182031 [GRCh38] Chr11:76893077 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.4039C>G (p.Arg1347Gly) |
single nucleotide variant |
not provided [RCV002609347] |
Chr11:77192165 [GRCh38] Chr11:76903210 [GRCh37] Chr11:11q13.5 |
likely pathogenic |
NM_000260.4(MYO7A):c.735+8_735+11dup |
duplication |
not provided [RCV002634949] |
Chr11:77157011..77157012 [GRCh38] Chr11:76868057..76868058 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.1086C>T (p.Asn362=) |
single nucleotide variant |
not provided [RCV002611319] |
Chr11:77160168 [GRCh38] Chr11:76871214 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.5909C>T (p.Thr1970Ile) |
single nucleotide variant |
not provided [RCV003092867] |
Chr11:77208482 [GRCh38] Chr11:76919527 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.5743-5C>G |
single nucleotide variant |
not provided [RCV002604660] |
Chr11:77207284 [GRCh38] Chr11:76918329 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.4324-18G>C |
single nucleotide variant |
not provided [RCV002633860] |
Chr11:77197463 [GRCh38] Chr11:76908508 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.1210G>A (p.Gly404Arg) |
single nucleotide variant |
not provided [RCV003066915] |
Chr11:77160982 [GRCh38] Chr11:76872028 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.814T>G (p.Leu272Val) |
single nucleotide variant |
not provided [RCV002653458] |
Chr11:77157357 [GRCh38] Chr11:76868403 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.3587C>T (p.Ser1196Phe) |
single nucleotide variant |
not provided [RCV002589458] |
Chr11:77189427 [GRCh38] Chr11:76900472 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.4752C>G (p.Ser1584=) |
single nucleotide variant |
not provided [RCV002584418] |
Chr11:77199718 [GRCh38] Chr11:76910763 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.2095G>A (p.Gly699Ser) |
single nucleotide variant |
not provided [RCV002589694] |
Chr11:77175372 [GRCh38] Chr11:76886418 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.6355-7T>G |
single nucleotide variant |
not provided [RCV003032012] |
Chr11:77212945 [GRCh38] Chr11:76923990 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.285+20G>A |
single nucleotide variant |
not provided [RCV003070525] |
Chr11:77147970 [GRCh38] Chr11:76859016 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.849+18C>G |
single nucleotide variant |
not provided [RCV002587893] |
Chr11:77157410 [GRCh38] Chr11:76868456 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.2488C>A (p.Arg830Ser) |
single nucleotide variant |
not provided [RCV003068936] |
Chr11:77179855 [GRCh38] Chr11:76890901 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.19-17CT[3] |
microsatellite |
not provided [RCV002610617] |
Chr11:77142692..77142693 [GRCh38] Chr11:76853738..76853739 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.5552T>C (p.Leu1851Pro) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 2 [RCV003155566] |
Chr11:77205533 [GRCh38] Chr11:76916578 [GRCh37] Chr11:11q13.5 |
likely pathogenic |
NM_000260.4(MYO7A):c.5945-30del |
deletion |
not provided [RCV003131659] |
Chr11:77208665 [GRCh38] Chr11:76919710 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.2766_2779del (p.Lys923fs) |
deletion |
Usher syndrome type 1 [RCV003228765] |
Chr11:77181451..77181464 [GRCh38] Chr11:76892497..76892510 [GRCh37] Chr11:11q13.5 |
pathogenic |
NM_000260.4(MYO7A):c.94G>A (p.Asp32Asn) |
single nucleotide variant |
Inborn genetic diseases [RCV003215611] |
Chr11:77142784 [GRCh38] Chr11:76853830 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.3512T>C (p.Ile1171Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV003188696] |
Chr11:77189352 [GRCh38] Chr11:76900397 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.3651C>A (p.His1217Gln) |
single nucleotide variant |
Inborn genetic diseases [RCV003199125] |
Chr11:77190040 [GRCh38] Chr11:76901085 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.5880C>A (p.Asp1960Glu) |
single nucleotide variant |
Inborn genetic diseases [RCV003211886] |
Chr11:77208453 [GRCh38] Chr11:76919498 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.4246_4248delinsCAA (p.Tyr1416Gln) |
indel |
not provided [RCV003132800] |
Chr11:77194447..77194449 [GRCh38] Chr11:76905492..76905494 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.1254_1263del (p.Tyr419fs) |
deletion |
not provided [RCV003135292] |
Chr11:77161025..77161034 [GRCh38] Chr11:76872071..76872080 [GRCh37] Chr11:11q13.5 |
likely pathogenic |
NM_000260.4(MYO7A):c.5373_5379delinsACCGACCA (p.Val1792fs) |
indel |
not provided [RCV003135293] |
Chr11:77204122..77204128 [GRCh38] Chr11:76915167..76915173 [GRCh37] Chr11:11q13.5 |
likely pathogenic |
NM_000260.4(MYO7A):c.269G>A (p.Arg90Gln) |
single nucleotide variant |
Inborn genetic diseases [RCV003211290] |
Chr11:77147934 [GRCh38] Chr11:76858980 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.6470T>A (p.Ile2157Asn) |
single nucleotide variant |
not provided [RCV003227170] |
Chr11:77213891 [GRCh38] Chr11:76924936 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.1568C>G (p.Thr523Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV003213484] |
Chr11:77162866 [GRCh38] Chr11:76873912 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.4692A>C (p.Lys1564Asn) |
single nucleotide variant |
Inborn genetic diseases [RCV003198969] |
Chr11:77199658 [GRCh38] Chr11:76910703 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.592+1G>A |
single nucleotide variant |
not provided [RCV003227370] |
Chr11:77156782 [GRCh38] Chr11:76867828 [GRCh37] Chr11:11q13.5 |
pathogenic |
NM_000260.4(MYO7A):c.1929dup (p.Pro644fs) |
duplication |
Usher syndrome [RCV003324703] |
Chr11:77172878..77172879 [GRCh38] Chr11:76883924..76883925 [GRCh37] Chr11:11q13.5 |
likely pathogenic |
NM_000260.4(MYO7A):c.4569-9C>G |
single nucleotide variant |
not provided [RCV003568986] |
Chr11:77199526 [GRCh38] Chr11:76910571 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.2795C>A (p.Ala932Asp) |
single nucleotide variant |
Inborn genetic diseases [RCV003285011] |
Chr11:77181480 [GRCh38] Chr11:76892526 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.541C>T (p.Gln181Ter) |
single nucleotide variant |
Usher syndrome type 1B [RCV003320029] |
Chr11:77156730 [GRCh38] Chr11:76867776 [GRCh37] Chr11:11q13.5 |
pathogenic |
NM_000260.4(MYO7A):c.1091del (p.Pro364fs) |
deletion |
not provided [RCV003712705] |
Chr11:77160168 [GRCh38] Chr11:76871214 [GRCh37] Chr11:11q13.5 |
pathogenic |
NM_000260.4(MYO7A):c.5043+3A>G |
single nucleotide variant |
Usher syndrome type 1 [RCV003326200] |
Chr11:77201641 [GRCh38] Chr11:76912686 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.6067C>T (p.Leu2023Phe) |
single nucleotide variant |
not provided [RCV003329940] |
Chr11:77211167 [GRCh38] Chr11:76922212 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.3470T>A (p.Ile1157Asn) |
single nucleotide variant |
not provided [RCV003329628] |
Chr11:77184682 [GRCh38] Chr11:76895727 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.2584G>A (p.Glu862Lys) |
single nucleotide variant |
Inborn genetic diseases [RCV003381139] |
Chr11:77179951 [GRCh38] Chr11:76890997 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.5951T>G (p.Val1984Gly) |
single nucleotide variant |
Inborn genetic diseases [RCV003345795] |
Chr11:77208703 [GRCh38] Chr11:76919748 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.1619C>T (p.Pro540Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV003376786] |
Chr11:77162917 [GRCh38] Chr11:76873963 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.6282G>T (p.Glu2094Asp) |
single nucleotide variant |
Inborn genetic diseases [RCV003355063] |
Chr11:77211865 [GRCh38] Chr11:76922910 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.1135_1147dup (p.Ser383fs) |
duplication |
not provided [RCV003395928] |
Chr11:77160216..77160217 [GRCh38] Chr11:76871262..76871263 [GRCh37] Chr11:11q13.5 |
likely pathogenic |
NM_000260.4(MYO7A):c.4700C>T (p.Ala1567Val) |
single nucleotide variant |
Inborn genetic diseases [RCV003378041] |
Chr11:77199666 [GRCh38] Chr11:76910711 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.4382A>G (p.Tyr1461Cys) |
single nucleotide variant |
Inborn genetic diseases [RCV003365142] |
Chr11:77197539 [GRCh38] Chr11:76908584 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.5113C>G (p.Pro1705Ala) |
single nucleotide variant |
not provided [RCV003332862] |
Chr11:77202369 [GRCh38] Chr11:76913414 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.535_536del (p.Ser179fs) |
deletion |
Retinitis pigmentosa [RCV003459890] |
|
pathogenic |
NM_000260.4(MYO7A):c.849+19C>T |
single nucleotide variant |
not provided [RCV003873095] |
Chr11:77157411 [GRCh38] Chr11:76868457 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.4323+14G>C |
single nucleotide variant |
not provided [RCV003543352] |
Chr11:77194538 [GRCh38] Chr11:76905583 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.1555-17G>T |
single nucleotide variant |
not provided [RCV003873283] |
Chr11:77162836 [GRCh38] Chr11:76873882 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.6552G>T (p.Thr2184=) |
single nucleotide variant |
not provided [RCV003543203] |
Chr11:77213973 [GRCh38] Chr11:76925018 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.1824C>G (p.Pro608=) |
single nucleotide variant |
not provided [RCV003569902] |
Chr11:77172774 [GRCh38] Chr11:76883820 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.4441+1G>A |
single nucleotide variant |
not provided [RCV003570805] |
Chr11:77197599 [GRCh38] Chr11:76908644 [GRCh37] Chr11:11q13.5 |
likely pathogenic |
NM_000260.4(MYO7A):c.285+14C>T |
single nucleotide variant |
not provided [RCV003571310] |
Chr11:77147964 [GRCh38] Chr11:76859010 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.1080+14C>T |
single nucleotide variant |
not provided [RCV003686294] |
Chr11:77159537 [GRCh38] Chr11:76870583 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.3285+9A>C |
single nucleotide variant |
not provided [RCV003543266] |
Chr11:77182609 [GRCh38] Chr11:76893654 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.5636+1G>A |
single nucleotide variant |
not provided [RCV003571780] |
Chr11:77205618 [GRCh38] Chr11:76916663 [GRCh37] Chr11:11q13.5 |
pathogenic |
NM_000260.4(MYO7A):c.3109-16G>A |
single nucleotide variant |
not provided [RCV003570190] |
Chr11:77182408 [GRCh38] Chr11:76893453 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.6414C>T (p.Val2138=) |
single nucleotide variant |
not provided [RCV003570350] |
Chr11:77213011 [GRCh38] Chr11:76924056 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.6355-17C>G |
single nucleotide variant |
not provided [RCV003874827] |
Chr11:77212935 [GRCh38] Chr11:76923980 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.4853-27_4853-18del |
deletion |
not provided [RCV003712656] |
Chr11:77201420..77201429 [GRCh38] Chr11:76912465..76912474 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.2282+20C>T |
single nucleotide variant |
not provided [RCV003543083] |
Chr11:77177663 [GRCh38] Chr11:76888709 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.1162A>C (p.Arg388=) |
single nucleotide variant |
not provided [RCV003571317] |
Chr11:77160244 [GRCh38] Chr11:76871290 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.2496C>T (p.Ala832=) |
single nucleotide variant |
not provided [RCV003543644] |
Chr11:77179863 [GRCh38] Chr11:76890909 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.1650C>T (p.Gly550=) |
single nucleotide variant |
not provided [RCV003543040] |
Chr11:77162948 [GRCh38] Chr11:76873994 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.4063C>T (p.His1355Tyr) |
single nucleotide variant |
not provided [RCV003872919] |
Chr11:77192189 [GRCh38] Chr11:76903234 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.426C>A (p.Tyr142Ter) |
single nucleotide variant |
not provided [RCV003569318] |
Chr11:77156047 [GRCh38] Chr11:76867093 [GRCh37] Chr11:11q13.5 |
pathogenic |
NM_000260.4(MYO7A):c.819C>A (p.Gly273=) |
single nucleotide variant |
not provided [RCV003543042] |
Chr11:77157362 [GRCh38] Chr11:76868408 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.3108+5G>A |
single nucleotide variant |
not provided [RCV003872696] |
Chr11:77182159 [GRCh38] Chr11:76893205 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.4167T>G (p.Ala1389=) |
single nucleotide variant |
not provided [RCV003395929] |
Chr11:77194368 [GRCh38] Chr11:76905413 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.580C>T (p.Pro194Ser) |
single nucleotide variant |
Auditory neuropathy [RCV003484466] |
Chr11:77156769 [GRCh38] Chr11:76867815 [GRCh37] Chr11:11q13.5 |
likely pathogenic |
NM_000260.4(MYO7A):c.2070dup (p.Gly691fs) |
duplication |
Auditory neuropathy [RCV003484480] |
Chr11:77174889..77174890 [GRCh38] Chr11:76885935..76885936 [GRCh37] Chr11:11q13.5 |
pathogenic |
NM_000260.4(MYO7A):c.44_51dup (p.Gln18fs) |
duplication |
Usher syndrome [RCV003389535] |
Chr11:77142733..77142734 [GRCh38] Chr11:76853779..76853780 [GRCh37] Chr11:11q13.5 |
pathogenic |
NM_000260.4(MYO7A):c.5915G>A (p.Trp1972Ter) |
single nucleotide variant |
Usher syndrome [RCV003389552] |
Chr11:77208488 [GRCh38] Chr11:76919533 [GRCh37] Chr11:11q13.5 |
pathogenic |
NM_000260.4(MYO7A):c.2283-8T>C |
single nucleotide variant |
not provided [RCV003390097] |
Chr11:77179037 [GRCh38] Chr11:76890083 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.1904G>A (p.Cys635Tyr) |
single nucleotide variant |
not provided [RCV003443964] |
Chr11:77172854 [GRCh38] Chr11:76883900 [GRCh37] Chr11:11q13.5 |
likely pathogenic |
NM_000260.4(MYO7A):c.3275del (p.Gly1092fs) |
deletion |
Usher syndrome [RCV003389523] |
Chr11:77182588 [GRCh38] Chr11:76893633 [GRCh37] Chr11:11q13.5 |
pathogenic |
NM_000260.4(MYO7A):c.5131C>G (p.Pro1711Ala) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 11 [RCV003444513] |
Chr11:77202387 [GRCh38] Chr11:76913432 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.2527G>T (p.Val843Leu) |
single nucleotide variant |
not provided [RCV003482028] |
Chr11:77179894 [GRCh38] Chr11:76890940 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.730C>T (p.Arg244Cys) |
single nucleotide variant |
MYO7A-related condition [RCV003394379] |
Chr11:77156999 [GRCh38] Chr11:76868045 [GRCh37] Chr11:11q13.5 |
likely pathogenic |
NM_000260.4(MYO7A):c.4017dup (p.Ala1340fs) |
duplication |
Usher syndrome [RCV003389516] |
Chr11:77192142..77192143 [GRCh38] Chr11:76903187..76903188 [GRCh37] Chr11:11q13.5 |
pathogenic |
NM_000260.4(MYO7A):c.4018G>C (p.Ala1340Pro) |
single nucleotide variant |
Usher syndrome [RCV003389517] |
Chr11:77192144 [GRCh38] Chr11:76903189 [GRCh37] Chr11:11q13.5 |
likely pathogenic |
NM_000260.4(MYO7A):c.5727T>G (p.Pro1909=) |
single nucleotide variant |
not provided [RCV003395930] |
Chr11:77206187 [GRCh38] Chr11:76917232 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.6082A>T (p.Lys2028Ter) |
single nucleotide variant |
MYO7A-related condition [RCV003410469] |
Chr11:77211182 [GRCh38] Chr11:76922227 [GRCh37] Chr11:11q13.5 |
likely pathogenic |
NM_000260.4(MYO7A):c.1714A>C (p.Thr572Pro) |
single nucleotide variant |
MYO7A-related condition [RCV003393007] |
Chr11:77166079 [GRCh38] Chr11:76877125 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.2093A>G (p.Gln698Arg) |
single nucleotide variant |
Usher syndrome [RCV003389521] |
Chr11:77174913 [GRCh38] Chr11:76885959 [GRCh37] Chr11:11q13.5 |
likely pathogenic |
NM_000260.4(MYO7A):c.3504-1G>A |
single nucleotide variant |
Usher syndrome [RCV003389525] |
Chr11:77189343 [GRCh38] Chr11:76900388 [GRCh37] Chr11:11q13.5 |
likely pathogenic |
NM_000260.4(MYO7A):c.2991_2992del (p.Glu998fs) |
deletion |
Usher syndrome [RCV003389531] |
Chr11:77182037..77182038 [GRCh38] Chr11:76893083..76893084 [GRCh37] Chr11:11q13.5 |
pathogenic |
NM_000260.4(MYO7A):c.5129A>G (p.Lys1710Arg) |
single nucleotide variant |
MYO7A-related condition [RCV003421069] |
Chr11:77202385 [GRCh38] Chr11:76913430 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.1798-19C>T |
single nucleotide variant |
not provided [RCV003879153] |
Chr11:77172729 [GRCh38] Chr11:76883775 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.1674C>G (p.Val558=) |
single nucleotide variant |
not provided [RCV003688332] |
Chr11:77162972 [GRCh38] Chr11:76874018 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.2094+20G>A |
single nucleotide variant |
not provided [RCV003879412] |
Chr11:77174934 [GRCh38] Chr11:76885980 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.6316A>G (p.Lys2106Glu) |
single nucleotide variant |
not provided [RCV003572858] |
Chr11:77211899 [GRCh38] Chr11:76922944 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.6355-5T>G |
single nucleotide variant |
not provided [RCV003714882] |
Chr11:77212947 [GRCh38] Chr11:76923992 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.139_161dup (p.His55fs) |
duplication |
not provided [RCV003574267] |
Chr11:77147801..77147802 [GRCh38] Chr11:76858847..76858848 [GRCh37] Chr11:11q13.5 |
pathogenic |
NM_000260.4(MYO7A):c.4641A>G (p.Gly1547=) |
single nucleotide variant |
not provided [RCV003715311] |
Chr11:77199607 [GRCh38] Chr11:76910652 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.735+20A>T |
single nucleotide variant |
not provided [RCV003824845] |
Chr11:77157024 [GRCh38] Chr11:76868070 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.2188-4C>T |
single nucleotide variant |
not provided [RCV003573178] |
Chr11:77177545 [GRCh38] Chr11:76888591 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.1381C>G (p.Leu461Val) |
single nucleotide variant |
not provided [RCV003714008] |
Chr11:77162157 [GRCh38] Chr11:76873203 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.5085C>T (p.Val1695=) |
single nucleotide variant |
not provided [RCV003663367] |
Chr11:77202341 [GRCh38] Chr11:76913386 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.6162C>T (p.Pro2054=) |
single nucleotide variant |
not provided [RCV003716340] |
Chr11:77211262 [GRCh38] Chr11:76922307 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.27T>C (p.His9=) |
single nucleotide variant |
not provided [RCV003573500] |
Chr11:77142717 [GRCh38] Chr11:76853763 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.4677C>T (p.Ser1559=) |
single nucleotide variant |
not provided [RCV003824598] |
Chr11:77199643 [GRCh38] Chr11:76910688 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.6231G>C (p.Trp2077Cys) |
single nucleotide variant |
not provided [RCV003686817] |
Chr11:77211331 [GRCh38] Chr11:76922376 [GRCh37] Chr11:11q13.5 |
likely pathogenic |
NM_000260.4(MYO7A):c.6159C>T (p.Phe2053=) |
single nucleotide variant |
not provided [RCV003659873] |
Chr11:77211259 [GRCh38] Chr11:76922304 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.6439-3dup |
duplication |
not provided [RCV003690179] |
Chr11:77213852..77213853 [GRCh38] Chr11:76924897..76924898 [GRCh37] Chr11:11q13.5 |
benign |
NM_000260.4(MYO7A):c.4152+11G>A |
single nucleotide variant |
not provided [RCV003715813] |
Chr11:77192289 [GRCh38] Chr11:76903334 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.1344-16C>T |
single nucleotide variant |
not provided [RCV003575758] |
Chr11:77162104 [GRCh38] Chr11:76873150 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.5271C>G (p.Leu1757=) |
single nucleotide variant |
not provided [RCV003713158] |
Chr11:77203162 [GRCh38] Chr11:76914207 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.1599G>A (p.Lys533=) |
single nucleotide variant |
not provided [RCV003545019] |
Chr11:77162897 [GRCh38] Chr11:76873943 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.5945-19C>G |
single nucleotide variant |
not provided [RCV003688381] |
Chr11:77208678 [GRCh38] Chr11:76919723 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.1690+20G>T |
single nucleotide variant |
not provided [RCV003574550] |
Chr11:77163008 [GRCh38] Chr11:76874054 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.2187+11A>G |
single nucleotide variant |
not provided [RCV003686980] |
Chr11:77175475 [GRCh38] Chr11:76886521 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.2694+19G>A |
single nucleotide variant |
not provided [RCV003879170] |
Chr11:77180500 [GRCh38] Chr11:76891546 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.3286-17C>T |
single nucleotide variant |
not provided [RCV003660723] |
Chr11:77183051 [GRCh38] Chr11:76894096 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.5595A>G (p.Pro1865=) |
single nucleotide variant |
not provided [RCV003547345] |
Chr11:77205576 [GRCh38] Chr11:76916621 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.1343+13G>A |
single nucleotide variant |
not provided [RCV003576018] |
Chr11:77161128 [GRCh38] Chr11:76872174 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.3985_3999del (p.Tyr1329_Gln1333del) |
deletion |
not provided [RCV003687888] |
Chr11:77192105..77192119 [GRCh38] Chr11:76903150..76903164 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.4324-3C>T |
single nucleotide variant |
not provided [RCV003878750] |
Chr11:77197478 [GRCh38] Chr11:76908523 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.4324-20C>G |
single nucleotide variant |
not provided [RCV003716622] |
Chr11:77197461 [GRCh38] Chr11:76908506 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.2095-13A>T |
single nucleotide variant |
not provided [RCV003875889] |
Chr11:77175359 [GRCh38] Chr11:76886405 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.6006G>T (p.Val2002=) |
single nucleotide variant |
not provided [RCV003714252] |
Chr11:77208758 [GRCh38] Chr11:76919803 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.2156G>A (p.Trp719Ter) |
single nucleotide variant |
not provided [RCV003662457] |
Chr11:77175433 [GRCh38] Chr11:76886479 [GRCh37] Chr11:11q13.5 |
pathogenic |
NM_000260.4(MYO7A):c.4070C>T (p.Pro1357Leu) |
single nucleotide variant |
not provided [RCV003689484] |
Chr11:77192196 [GRCh38] Chr11:76903241 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.1176G>A (p.Leu392=) |
single nucleotide variant |
not provided [RCV003689323] |
Chr11:77160258 [GRCh38] Chr11:76871304 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.4330dup (p.Tyr1444fs) |
duplication |
not provided [RCV003716060] |
Chr11:77197484..77197485 [GRCh38] Chr11:76908529..76908530 [GRCh37] Chr11:11q13.5 |
pathogenic |
NM_000260.4(MYO7A):c.470+11C>T |
single nucleotide variant |
not provided [RCV003661583] |
Chr11:77156102 [GRCh38] Chr11:76867148 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.5637-15_5637-7dup |
duplication |
not provided [RCV003575908] |
Chr11:77206081..77206082 [GRCh38] Chr11:76917126..76917127 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.285+13C>T |
single nucleotide variant |
not provided [RCV003875899] |
Chr11:77147963 [GRCh38] Chr11:76859009 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.471-12C>G |
single nucleotide variant |
not provided [RCV003544524] |
Chr11:77156648 [GRCh38] Chr11:76867694 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.6238-12C>T |
single nucleotide variant |
not provided [RCV003687778] |
Chr11:77211809 [GRCh38] Chr11:76922854 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.132+10C>A |
single nucleotide variant |
not provided [RCV003662360] |
Chr11:77142832 [GRCh38] Chr11:76853878 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.2695-4C>A |
single nucleotide variant |
not provided [RCV003575580] |
Chr11:77181376 [GRCh38] Chr11:76892422 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.1698G>A (p.Leu566=) |
single nucleotide variant |
not provided [RCV003687992] |
Chr11:77166063 [GRCh38] Chr11:76877109 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.1003+17C>G |
single nucleotide variant |
not provided [RCV003546996] |
Chr11:77158447 [GRCh38] Chr11:76869493 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.850-19C>T |
single nucleotide variant |
not provided [RCV003661877] |
Chr11:77158258 [GRCh38] Chr11:76869304 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.3051C>T (p.Tyr1017=) |
single nucleotide variant |
not provided [RCV003715702] |
Chr11:77182097 [GRCh38] Chr11:76893143 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.6459C>A (p.Pro2153=) |
single nucleotide variant |
not provided [RCV003659962] |
Chr11:77213880 [GRCh38] Chr11:76924925 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.4568+14C>T |
single nucleotide variant |
not provided [RCV003662632] |
Chr11:77198635 [GRCh38] Chr11:76909680 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.2099A>G (p.Asp700Gly) |
single nucleotide variant |
not provided [RCV003546281] |
Chr11:77175376 [GRCh38] Chr11:76886422 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.2095-13A>G |
single nucleotide variant |
not provided [RCV003544526] |
Chr11:77175359 [GRCh38] Chr11:76886405 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.1081-1G>C |
single nucleotide variant |
not provided [RCV003688279] |
Chr11:77160162 [GRCh38] Chr11:76871208 [GRCh37] Chr11:11q13.5 |
likely pathogenic |
NM_000260.4(MYO7A):c.735+19G>C |
single nucleotide variant |
not provided [RCV003543954] |
Chr11:77157023 [GRCh38] Chr11:76868069 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.285+20del |
deletion |
not provided [RCV003715255] |
Chr11:77147969 [GRCh38] Chr11:76859015 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.312T>C (p.Ala104=) |
single nucleotide variant |
not provided [RCV003660624] |
Chr11:77155933 [GRCh38] Chr11:76866979 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.1343+11G>A |
single nucleotide variant |
not provided [RCV003714658] |
Chr11:77161126 [GRCh38] Chr11:76872172 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.2391G>A (p.Leu797=) |
single nucleotide variant |
not provided [RCV003689853] |
Chr11:77179758 [GRCh38] Chr11:76890804 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.2620C>T (p.Leu874=) |
single nucleotide variant |
not provided [RCV003572102] |
Chr11:77180407 [GRCh38] Chr11:76891453 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.2095-12T>C |
single nucleotide variant |
not provided [RCV003715117] |
Chr11:77175360 [GRCh38] Chr11:76886406 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.6439-7C>T |
single nucleotide variant |
not provided [RCV003690286] |
Chr11:77213853 [GRCh38] Chr11:76924898 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.1590C>A (p.Ser530=) |
single nucleotide variant |
not provided [RCV003686801] |
Chr11:77162888 [GRCh38] Chr11:76873934 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.4568+15A>T |
single nucleotide variant |
not provided [RCV003547072] |
Chr11:77198636 [GRCh38] Chr11:76909681 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.666C>T (p.Asn222=) |
single nucleotide variant |
not provided [RCV003575453] |
Chr11:77156935 [GRCh38] Chr11:76867981 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.3522G>T (p.Gln1174His) |
single nucleotide variant |
not provided [RCV003715207] |
Chr11:77189362 [GRCh38] Chr11:76900407 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.2335C>A (p.Arg779=) |
single nucleotide variant |
not provided [RCV003575878] |
Chr11:77179097 [GRCh38] Chr11:76890143 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.4872C>T (p.Phe1624=) |
single nucleotide variant |
not provided [RCV003687003] |
Chr11:77201467 [GRCh38] Chr11:76912512 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.3504-10G>C |
single nucleotide variant |
not provided [RCV003688265] |
Chr11:77189334 [GRCh38] Chr11:76900379 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.1935+2T>C |
single nucleotide variant |
not provided [RCV003687395] |
Chr11:77172887 [GRCh38] Chr11:76883933 [GRCh37] Chr11:11q13.5 |
likely pathogenic |
NM_000260.4(MYO7A):c.1798-20G>C |
single nucleotide variant |
not provided [RCV003876683] |
Chr11:77172728 [GRCh38] Chr11:76883774 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.3750+15_3750+16dup |
duplication |
not provided [RCV003824522] |
Chr11:77190152..77190153 [GRCh38] Chr11:76901197..76901198 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.619A>C (p.Asn207His) |
single nucleotide variant |
not provided [RCV003547835] |
Chr11:77156888 [GRCh38] Chr11:76867934 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.2368-16G>T |
single nucleotide variant |
not provided [RCV003575790] |
Chr11:77179719 [GRCh38] Chr11:76890765 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.3751-16C>T |
single nucleotide variant |
not provided [RCV003660503] |
Chr11:77190681 [GRCh38] Chr11:76901726 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.1768A>G (p.Lys590Glu) |
single nucleotide variant |
not provided [RCV003662188] |
Chr11:77166133 [GRCh38] Chr11:76877179 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.6355-14A>C |
single nucleotide variant |
not provided [RCV003876723] |
Chr11:77212938 [GRCh38] Chr11:76923983 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.5856+20C>T |
single nucleotide variant |
not provided [RCV003876950] |
Chr11:77207422 [GRCh38] Chr11:76918467 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.2905-2A>G |
single nucleotide variant |
not provided [RCV003689868] |
Chr11:77181949 [GRCh38] Chr11:76892995 [GRCh37] Chr11:11q13.5 |
likely pathogenic |
NM_000260.4(MYO7A):c.1566C>A (p.Thr522=) |
single nucleotide variant |
not provided [RCV003547524] |
Chr11:77162864 [GRCh38] Chr11:76873910 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.3109-20A>G |
single nucleotide variant |
not provided [RCV003575499] |
Chr11:77182404 [GRCh38] Chr11:76893449 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.6606C>T (p.Leu2202=) |
single nucleotide variant |
not provided [RCV003877073] |
Chr11:77214654 [GRCh38] Chr11:76925699 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.5260C>T (p.Gln1754Ter) |
single nucleotide variant |
not provided [RCV003687529] |
Chr11:77203151 [GRCh38] Chr11:76914196 [GRCh37] Chr11:11q13.5 |
pathogenic |
NM_000260.4(MYO7A):c.4980G>T (p.Gly1660=) |
single nucleotide variant |
not provided [RCV003689396] |
Chr11:77201575 [GRCh38] Chr11:76912620 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.5421G>A (p.Glu1807=) |
single nucleotide variant |
not provided [RCV003662209] |
Chr11:77204170 [GRCh38] Chr11:76915215 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.1617C>T (p.Ile539=) |
single nucleotide variant |
not provided [RCV003663139] |
Chr11:77162915 [GRCh38] Chr11:76873961 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.1890CTT[1] (p.Phe632del) |
microsatellite |
not provided [RCV003663484] |
Chr11:77172840..77172842 [GRCh38] Chr11:76883886..76883888 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.4183C>T (p.Gln1395Ter) |
single nucleotide variant |
not provided [RCV003571956] |
Chr11:77194384 [GRCh38] Chr11:76905429 [GRCh37] Chr11:11q13.5 |
pathogenic |
NM_000260.4(MYO7A):c.3006C>T (p.Ala1002=) |
single nucleotide variant |
not provided [RCV003573247] |
Chr11:77182052 [GRCh38] Chr11:76893098 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.593-14T>A |
single nucleotide variant |
not provided [RCV003824696] |
Chr11:77156848 [GRCh38] Chr11:76867894 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.2555C>A (p.Ala852Asp) |
single nucleotide variant |
not provided [RCV003716660] |
Chr11:77179922 [GRCh38] Chr11:76890968 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.1081-16del |
deletion |
not provided [RCV003546961] |
Chr11:77160144 [GRCh38] Chr11:76871190 [GRCh37] Chr11:11q13.5 |
benign |
NM_000260.4(MYO7A):c.2034C>G (p.Phe678Leu) |
single nucleotide variant |
not provided [RCV003688039] |
Chr11:77174854 [GRCh38] Chr11:76885900 [GRCh37] Chr11:11q13.5 |
uncertain significance |
NM_000260.4(MYO7A):c.5208del (p.Lys1737fs) |
deletion |
not provided [RCV003688131] |
Chr11:77203098 [GRCh38] Chr11:76914143 [GRCh37] Chr11:11q13.5 |
pathogenic |
NM_000260.4(MYO7A):c.3762C>T (p.Ser1254=) |
single nucleotide variant |
not provided [RCV003546946] |
Chr11:77190708 [GRCh38] Chr11:76901753 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.6573T>C (p.Asp2191=) |
single nucleotide variant |
not provided [RCV003715653] |
Chr11:77214621 [GRCh38] Chr11:76925666 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.1003+19del |
deletion |
not provided [RCV003546997] |
Chr11:77158449 [GRCh38] Chr11:76869495 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.850-11C>A |
single nucleotide variant |
not provided [RCV003716347] |
Chr11:77158266 [GRCh38] Chr11:76869312 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.4296C>G (p.Ala1432=) |
single nucleotide variant |
not provided [RCV003544025] |
Chr11:77194497 [GRCh38] Chr11:76905542 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.6075C>T (p.Gly2025=) |
single nucleotide variant |
not provided [RCV003689639] |
Chr11:77211175 [GRCh38] Chr11:76922220 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.1690+20G>C |
single nucleotide variant |
not provided [RCV003663157] |
Chr11:77163008 [GRCh38] Chr11:76874054 [GRCh37] Chr11:11q13.5 |
likely benign |
NM_000260.4(MYO7A):c.2589T>A (p.Tyr863Ter) |
single nucleotide variant |
not provided [RCV003572380] |
Chr11:77180376 [GRCh38] Chr11:76891422 [GRCh37] Chr11:11q13.5 |
pathogenic |
NM_000260.4(MYO7A):c.2587-15del |
deletion |
not provided [RCV003573589] |
Chr11:77180359 [GRCh38] Chr11:76891405 [GRCh37] Chr11:11q13.5 |
likely benign |