"GeneDx"[submitter] AND "MYO15A"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 60429	GRCh38/hg38 17p12-11.2(chr17:15952071-18362819)x1	ADORA2B, ALKBH5 +199 more	Copy number loss	See cases	GPathogenic
Select item 60433	GRCh38/hg38 17p11.2(chr17:16117885-18362819)x1	ALKBH5, ATPAF2 +190 more	Copy number loss	See cases	GPathogenic
Select item 60439	GRCh38/hg38 17p11.2(chr17:16817557-18362819)x1	ALKBH5, ATPAF2 +138 more	Copy number loss	See cases	GPathogenic
Select item 58694	GRCh38/hg38 17p11.2(chr17:17667721-18301995)x3	ALKBH5, ATPAF2 +67 more	Copy number gain	See cases	GPathogenic
Select item 1261079	NM_016239.4(MYO15A):c.-219-289G>A	MYO15A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 322102	NM_016239.4(MYO15A):c.-219-14T>C	MYO15A	Single nucleotide variant (intron variant)	Autosomal recessive nonsyndromic hearing loss 3 +1 more	GBenign
Select item 322103	NM_016239.4(MYO15A):c.-203C>T	MYO15A	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 322106	NM_016239.4(MYO15A):c.-76A>C	MYO15A	Single nucleotide variant (5 prime UTR variant)	Autosomal recessive nonsyndromic hearing loss 3 +1 more	GBenign
Select item 1706211	NM_016239.4(MYO15A):c.25A>G (p.Lys9Glu)	MYO15A (K9E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 593188	NM_016239.4(MYO15A):c.32_40del (p.Ala11_Lys13del)	MYO15A	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 1704060	NM_016239.4(MYO15A):c.32C>A (p.Ala11Asp)	MYO15A (A11D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 260700	NM_016239.4(MYO15A):c.54G>A (p.Lys18=)	MYO15A	Single nucleotide variant (synonymous variant)	Autosomal recessive nonsyndromic hearing loss 3 +2 more	GConflicting classifications of pathogenicity
Select item 2662599	NM_016239.4(MYO15A):c.151G>A (p.Gly51Ser)	MYO15A (G51S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1707870	NM_016239.4(MYO15A):c.160C>T (p.Arg54Cys)	MYO15A (R54C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 727010	NM_016239.4(MYO15A):c.250T>A (p.Ser84Thr)	MYO15A (S84T)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2736459	NM_016239.4(MYO15A):c.284dup (p.Lys96fs)	MYO15A (K96fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 228948	NM_016239.4(MYO15A):c.349_357del (p.Tyr117_Arg119del)	MYO15A	Deletion	not provided +1 more	GUncertain significance
Select item 506020	NM_016239.4(MYO15A):c.381C>G (p.Leu127=)	MYO15A	Single nucleotide variant (synonymous variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 1306706	NM_016239.4(MYO15A):c.395C>T (p.Thr132Met)	MYO15A (T132M)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 322109	NM_016239.4(MYO15A):c.484C>T (p.Arg162Cys)	MYO15A (R162C)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 3 +1 more	GConflicting classifications of pathogenicity
Select item 1309669	NM_016239.4(MYO15A):c.526T>C (p.Ser176Pro)	MYO15A (S176P)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1315024	NM_016239.4(MYO15A):c.530G>T (p.Gly177Val)	MYO15A (G177V)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 3 +1 more	GUncertain significance
Select item 668264	NM_016239.4(MYO15A):c.549T>C (p.Pro183=)	MYO15A	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 1313780	NM_016239.4(MYO15A):c.560T>G (p.Leu187Arg)	MYO15A (L187R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 432257	NM_016239.4(MYO15A):c.574C>T (p.Arg192Cys)	MYO15A (R192C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1302918	NM_016239.4(MYO15A):c.593C>T (p.Ala198Val)	MYO15A (A198V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1700341	NM_016239.4(MYO15A):c.648C>A (p.His216Gln)	MYO15A (H216Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 666874	NM_016239.4(MYO15A):c.700G>C (p.Glu234Gln)	MYO15A (E234Q)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 504628	NM_016239.4(MYO15A):c.709G>A (p.Asp237Asn)	MYO15A (D237N)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 2580582	NM_016239.4(MYO15A):c.725G>A (p.Gly242Asp)	MYO15A (G242D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 282078	NM_016239.4(MYO15A):c.730G>A (p.Asp244Asn)	MYO15A (D244N)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 429944	NM_016239.4(MYO15A):c.790C>A (p.Leu264Ile)	MYO15A (L264I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1331107	NM_016239.4(MYO15A):c.806C>T (p.Pro269Leu)	MYO15A (P269L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 195311	NM_016239.4(MYO15A):c.823G>C (p.Gly275Arg)	MYO15A (G275R)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 3 +2 more	GConflicting classifications of pathogenicity
Select item 227653	NM_016239.4(MYO15A):c.829C>T (p.His277Tyr)	MYO15A (H277Y)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 1312318	NM_016239.4(MYO15A):c.836A>T (p.Tyr279Phe)	MYO15A (Y279F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1081828	NM_016239.4(MYO15A):c.850G>A (p.Glu284Lys)	MYO15A (E284K)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 285403	NM_016239.4(MYO15A):c.858C>G (p.Pro286=)	MYO15A	Single nucleotide variant (synonymous variant)	not provided	GConflicting classifications of pathogenicity
Select item 226791	NM_016239.4(MYO15A):c.876C>T (p.Pro292=)	MYO15A	Single nucleotide variant (synonymous variant)	Autosomal recessive nonsyndromic hearing loss 3 +2 more	GConflicting classifications of pathogenicity
Select item 285405	NM_016239.4(MYO15A):c.877G>A (p.Asp293Asn)	MYO15A (D293N)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 3 +2 more	GConflicting classifications of pathogenicity
Select item 2663368	NM_016239.4(MYO15A):c.879C>G (p.Asp293Glu)	MYO15A (D293E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 226792	NM_016239.4(MYO15A):c.915C>T (p.Tyr305=)	MYO15A	Single nucleotide variant (synonymous variant)	Autosomal recessive nonsyndromic hearing loss 3 +2 more	GConflicting classifications of pathogenicity
Select item 892338	NM_016239.4(MYO15A):c.917G>A (p.Gly306Asp)	MYO15A (G306D)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1706320	NM_016239.4(MYO15A):c.950C>T (p.Ala317Val)	MYO15A (A317V)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 727139	NM_016239.4(MYO15A):c.969G>A (p.Ser323=)	MYO15A	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 514563	NM_016239.4(MYO15A):c.1026C>T (p.Tyr342=)	MYO15A	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 227632	NM_016239.4(MYO15A):c.1047C>T (p.Tyr349=)	MYO15A	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2501903	NM_016239.4(MYO15A):c.1099C>T (p.Pro367Ser)	MYO15A (P367S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 423766	NM_016239.4(MYO15A):c.1111C>A (p.Pro371Thr)	MYO15A (P371T)	Single nucleotide variant (missense variant)	Nonsyndromic genetic hearing loss	GLikely benign FDA Recognized database
Select item 226776	NM_016239.4(MYO15A):c.1158C>T (p.Gly386=)	MYO15A	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 228372	NM_016239.4(MYO15A):c.1185dup (p.Glu396fs)	MYO15A (E396fs)	Duplication	Autosomal recessive nonsyndromic hearing loss 3 +2 more	GPathogenic
Select item 2764480	NM_016239.4(MYO15A):c.1195T>C (p.Tyr399His)	MYO15A (Y399H)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 287167	NM_016239.4(MYO15A):c.1196A>G (p.Tyr399Cys)	MYO15A (Y399C)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 1691752	NM_016239.4(MYO15A):c.1210G>A (p.Glu404Lys)	MYO15A (E404K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 402261	NM_016239.4(MYO15A):c.1223C>T (p.Ala408Val)	MYO15A (A408V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1699777	NM_016239.4(MYO15A):c.1281C>A (p.His427Gln)	MYO15A (H427Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 735333	NM_016239.4(MYO15A):c.1359C>T (p.Pro453=)	MYO15A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1471556	NM_016239.4(MYO15A):c.1374C>G (p.Phe458Leu)	MYO15A (F458L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 226777	NM_016239.4(MYO15A):c.1385G>A (p.Gly462Asp)	MYO15A (G462D)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 3 +2 more	GBenign/Likely benign
Select item 227634	NM_016239.4(MYO15A):c.1387A>G (p.Met463Val)	MYO15A (M463V)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 3 +2 more	GConflicting classifications of pathogenicity
Select item 282131	NM_016239.4(MYO15A):c.1414T>A (p.Ser472Thr)	MYO15A (S472T)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1306707	NM_016239.4(MYO15A):c.1425C>T (p.Arg475=)	MYO15A	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 3364188	NM_016239.4(MYO15A):c.1442C>T (p.Pro481Leu)	MYO15A (P481L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2446160	NM_016239.4(MYO15A):c.1445G>A (p.Arg482Gln)	MYO15A (R482Q)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 195313	NM_016239.4(MYO15A):c.1454T>C (p.Val485Ala)	MYO15A (V485A)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 3 +12 more	GConflicting classifications of pathogenicity
Select item 2217227	NM_016239.4(MYO15A):c.1519T>G (p.Leu507Val)	MYO15A (L507V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 598630	NM_016239.4(MYO15A):c.1552G>A (p.Glu518Lys)	MYO15A (E518K)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 1253807	NM_016239.4(MYO15A):c.1562C>T (p.Pro521Leu)	MYO15A (P521L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2527436	NM_016239.4(MYO15A):c.1573G>A (p.Val525Met)	MYO15A (V525M)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 504629	NM_016239.4(MYO15A):c.1582G>A (p.Gly528Ser)	MYO15A (G528S)	Single nucleotide variant (missense variant)	Nonsyndromic genetic hearing loss	GLikely benign FDA Recognized database
Select item 667274	NM_016239.4(MYO15A):c.1585C>T (p.His529Tyr)	MYO15A (H529Y)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1028013	NM_016239.4(MYO15A):c.1603del (p.Leu535fs)	MYO15A (L535fs)	Deletion (frameshift variant)	not provided	GPathogenic/Likely pathogenic
Select item 322119	NM_016239.4(MYO15A):c.1602C>T (p.Phe534=)	MYO15A	Single nucleotide variant (synonymous variant)	Autosomal recessive nonsyndromic hearing loss 3 +2 more	GConflicting classifications of pathogenicity
Select item 888948	NM_016239.4(MYO15A):c.1613G>A (p.Arg538His)	MYO15A (R538H)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 2065626	NM_016239.4(MYO15A):c.1630C>T (p.Arg544Cys)	MYO15A (R544C)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 322120	NM_016239.4(MYO15A):c.1634C>T (p.Ala545Val)	MYO15A (A545V)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 2442474	NM_016239.4(MYO15A):c.1648G>A (p.Gly550Ser)	MYO15A (G550S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 888949	NM_016239.4(MYO15A):c.1688G>T (p.Arg563Leu)	MYO15A (R563L)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 195315	NM_016239.4(MYO15A):c.1783G>A (p.Ala595Thr)	MYO15A (A595T)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign
Select item 322121	NM_016239.4(MYO15A):c.1791G>A (p.Ala597=)	MYO15A	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign/Likely benign
Select item 817748	NM_016239.4(MYO15A):c.1795_1798dup (p.Pro600fs)	MYO15A (P600fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 2216840	NM_016239.4(MYO15A):c.1835A>G (p.Tyr612Cys)	MYO15A (Y612C)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1313781	NM_016239.4(MYO15A):c.1849A>C (p.Met617Leu)	MYO15A (M617L)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 668643	NM_016239.4(MYO15A):c.1863G>A (p.Lys621=)	MYO15A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2970217	NM_016239.4(MYO15A):c.1867G>A (p.Gly623Ser)	MYO15A (G623S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2063880	NM_016239.4(MYO15A):c.1888A>G (p.Arg630Gly)	MYO15A (R630G)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1675265	NM_016239.4(MYO15A):c.1898_1899delinsAG (p.Pro633Gln)	MYO15A (P633Q)	Indel (missense variant)	not provided	GUncertain significance
Select item 226778	NM_016239.4(MYO15A):c.1899A>G (p.Pro633=)	MYO15A	Single nucleotide variant (synonymous variant)	Autosomal recessive nonsyndromic hearing loss 3 +2 more	GBenign
Select item 1704898	NM_016239.4(MYO15A):c.1913G>A (p.Ser638Asn)	MYO15A (S638N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 286668	NM_016239.4(MYO15A):c.1941A>C (p.Pro647=)	MYO15A	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign/Likely benign
Select item 1305294	NM_016239.4(MYO15A):c.1967A>G (p.His656Arg)	MYO15A (H656R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1300684	NM_016239.4(MYO15A):c.1990C>A (p.Pro664Thr)	MYO15A (P664T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 817360	NM_016239.4(MYO15A):c.2000del (p.Pro667fs)	MYO15A (P667fs)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 1254708	NM_016239.4(MYO15A):c.2012G>A (p.Ser671Asn)	MYO15A (S671N)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 1198834	NM_016239.4(MYO15A):c.2014T>C (p.Ser672Pro)	MYO15A (S672P)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 1185127	NM_016239.4(MYO15A):c.2017G>A (p.Gly673Arg)	MYO15A (G673R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 322123	NM_016239.4(MYO15A):c.2020C>T (p.Pro674Ser)	MYO15A (P674S)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 227636	NM_016239.4(MYO15A):c.2028C>A (p.Pro676=)	MYO15A	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign/Likely benign
Select item 2975431	NM_016239.4(MYO15A):c.2033C>T (p.Pro678Leu)	MYO15A (P678L)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 891197	NM_016239.4(MYO15A):c.2045C>T (p.Pro682Leu)	MYO15A (P682L)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity

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