Related gene-specific medical variations for Gene (Select 51168) - ClinVar

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Items: 56

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3370292	NM_016239.4(MYO15A):c.5540del (p.Cys1847fs)	MYO15A (C1847fs)	Deletion (frameshift variant)	Autosomal recessive nonsyndromic hearing loss 3	GPathogenic
Select item 3362013	NM_016239.4(MYO15A):c.7028A>G (p.Lys2343Arg)	MYO15A (K2343R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3361976	NM_016239.4(MYO15A):c.4753G>A (p.Ala1585Thr)	MYO15A (A1585T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3361952	NM_016239.4(MYO15A):c.387A>C (p.Lys129Asn)	MYO15A (K129N)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 3360473	NM_016239.4(MYO15A):c.965A>G (p.Tyr322Cys)	MYO15A (Y322C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3360155	NM_016239.4(MYO15A):c.9722C>T (p.Ala3241Val)	MYO15A (A3241V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3255376	NM_016239.4(MYO15A):c.1178_1179del (p.Tyr393fs)	MYO15A (Y393fs)	Deletion (frameshift variant)	Autosomal recessive nonsyndromic hearing loss 3	GPathogenic
Select item 3243195	NC_000017.10:g.(?_18054799)_(18058245_?)del	MYO15A	Deletion	not provided	GPathogenic
Select item 3243194	NC_000017.10:g.(?_18074932)_(18077255_?)del	MYO15A	Deletion	not provided	GPathogenic
Select item 3243193	NC_000017.10:g.(?_18055140)_(18055518_?)del	MYO15A	Deletion	not provided	GPathogenic
Select item 3243192	NC_000017.10:g.(?_18049166)_(18061234_?)del	MYO15A	Deletion	not provided	GPathogenic
Select item 2983768	NM_016239.4(MYO15A):c.9396C>T (p.Cys3132=)	LOC130060418, MYO15A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2799677	NM_016239.4(MYO15A):c.9387-1G>A	LOC130060418, MYO15A	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 2781985	NM_016239.4(MYO15A):c.8089-11C>T	LOC130060416, MYO15A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2763547	NM_016239.4(MYO15A):c.9387-1G>C	LOC130060418, MYO15A	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 2749728	NM_016239.4(MYO15A):c.9390C>T (p.Asp3130=)	LOC130060418, MYO15A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2739387	NM_016239.4(MYO15A):c.8089-12C>G	LOC130060416, MYO15A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2699269	NM_016239.4(MYO15A):c.8089-10G>A	LOC130060416, MYO15A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2697963	NM_016239.4(MYO15A):c.8089-12C>T	LOC130060416, MYO15A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2697344	NM_016239.4(MYO15A):c.8089-6del	LOC130060416, MYO15A	Deletion (intron variant)	not provided	GBenign
Select item 2683914	NM_016239.4(MYO15A):c.6708C>A (p.Cys2236Ter)	MYO15A (C2236*)	Single nucleotide variant (nonsense)	Autosomal recessive nonsyndromic hearing loss 3	GPathogenic
Select item 2683913	NM_016239.4(MYO15A):c.343del (p.Arg115fs)	MYO15A (R115fs)	Deletion (frameshift variant)	Autosomal recessive nonsyndromic hearing loss 3	GPathogenic
Select item 2621375	NM_016239.4(MYO15A):c.9390C>G (p.Asp3130Glu)	LOC130060418, MYO15A (D3130E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2573586	NM_016239.4(MYO15A):c.9408G>C (p.Trp3136Cys)	LOC130060418, MYO15A (W3136C)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 3 +1 more	GPathogenic/Likely pathogenic
Select item 2522471	NM_016239.4(MYO15A):c.9424G>A (p.Val3142Met)	LOC130060418, MYO15A (V3142M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2442240	NM_016239.4(MYO15A):c.8812G>A (p.Gly2938Arg)	MYO15A (G2938R)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 3	GUncertain significance
Select item 1807049	NM_016239.4(MYO15A):c.3259G>A (p.Ala1087Thr)	MYO15A (A1087T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1802037	NM_016239.4(MYO15A):c.9401G>A (p.Arg3134Gln)	LOC130060418, MYO15A (R3134Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1696775	NM_016239.4(MYO15A):c.5192T>C (p.Phe1731Ser)	MYO15A (F1731S)	Single nucleotide variant (missense variant)	Not Specified	Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant
Select item 1330560	NM_016239.4(MYO15A):c.5261G>A (p.Arg1754His)	MYO15A (R1754H)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 3	GUncertain significance
Select item 1323313	NM_016239.4(MYO15A):c.5001del (p.Gln1669fs)	MYO15A (Q1669fs)	Deletion (frameshift variant)	Autosomal recessive nonsyndromic hearing loss 3	GPathogenic
Select item 1319741	NM_016239.4(MYO15A):c.3340T>C (p.Phe1114Leu)	MYO15A (F1114L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1301979	NM_016239.4(MYO15A):c.9401G>C (p.Arg3134Pro)	LOC130060418, MYO15A (R3134P)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 3	GUncertain significance
Select item 1301978	NM_016239.4(MYO15A):c.9400C>T (p.Arg3134Ter)	LOC130060418, MYO15A (R3134*)	Single nucleotide variant (nonsense)	Autosomal recessive nonsyndromic hearing loss 3 +1 more	GPathogenic
Select item 1256269	NM_016239.4(MYO15A):c.3080C>T (p.Thr1027Ile)	MYO15A (T1027I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1177379	NM_016239.4(MYO15A):c.8730C>A (p.Cys2910Ter)	MYO15A (C2910*)	Single nucleotide variant (nonsense)	Autosomal recessive nonsyndromic hearing loss 3	GPathogenic
Select item 994695	NM_016239.4(MYO15A):c.1277C>T (p.Ala426Val)	MYO15A (A426V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 892288	NM_016239.4(MYO15A):c.-223G>T	LOC105371566, MYO15A	Single nucleotide variant (5 prime UTR variant)	Autosomal recessive nonsyndromic hearing loss 3	GUncertain significance
Select item 892287	NM_016239.4(MYO15A):c.-224C>T	LOC105371566, MYO15A	Single nucleotide variant (5 prime UTR variant)	Autosomal recessive nonsyndromic hearing loss 3	GUncertain significance
Select item 892286	NM_016239.4(MYO15A):c.-236C>A	LOC105371566, MYO15A	Single nucleotide variant (5 prime UTR variant)	Autosomal recessive nonsyndromic hearing loss 3	GUncertain significance
Select item 891502	NM_016239.4(MYO15A):c.8089-7C>G	LOC130060416, MYO15A	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 811331	NM_016239.4(MYO15A):c.458A>G (p.Gln153Arg)	MYO15A (Q153R)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 3	GUncertain significance
Select item 717666	NM_016239.4(MYO15A):c.9423C>T (p.Ile3141=)	LOC130060418, MYO15A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 618238	NM_016239.4(MYO15A):c.328C>T (p.Arg110Cys)	MYO15A (R110C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 618236	NM_016239.4(MYO15A):c.6550T>C (p.Cys2184Arg)	MYO15A (C2184R)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 3	GUncertain significance
Select item 560727	NM_016239.4(MYO15A):c.9061C>T (p.Arg3021Ter)	MYO15A (R3021*)	Single nucleotide variant (nonsense)	Autosomal recessive nonsyndromic hearing loss 3	GLikely pathogenic
Select item 523084	NM_016239.4(MYO15A):c.8614G>A (p.Val2872Met)	MYO15A (V2872M)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 3	GUncertain significance
Select item 515525	NM_016239.4(MYO15A):c.9429C>T (p.Thr3143=)	LOC130060418, MYO15A	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 322101	NM_016239.4(MYO15A):c.-227G>A	LOC105371566, MYO15A	Single nucleotide variant (5 prime UTR variant)	Autosomal recessive nonsyndromic hearing loss 3	GUncertain significance
Select item 260699	NM_016239.4(MYO15A):c.1854C>T (p.Asp618=)	MYO15A	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 242390	NM_016239.4(MYO15A):c.373_374del (p.Arg125fs)	MYO15A (R125fs)	Deletion (frameshift variant)	Autosomal recessive nonsyndromic hearing loss 3	GPathogenic
Select item 242334	NM_016239.4(MYO15A):c.6146C>A (p.Pro2049His)	MYO15A (P2049H)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 3	GPathogenic
Select item 242332	NM_016239.4(MYO15A):c.5335del (p.Leu1779fs)	MYO15A (L1779fs)	Deletion (frameshift variant)	Autosomal recessive nonsyndromic hearing loss 3	GPathogenic
Select item 242331	NM_016239.4(MYO15A):c.4780G>C (p.Asp1594His)	MYO15A (D1594H)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 3	GPathogenic
Select item 242329	NM_016239.4(MYO15A):c.3944G>A (p.Gly1315Glu)	MYO15A (G1315E)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 3	GPathogenic
Select item 236039	NC_000017.1:g.18054799_18058246delinsCTCCCCGGAACGGCTGCTGGTAC	MYO15A	Insertion	Autosomal recessive nonsyndromic hearing loss 3	GPathogenic

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Links from Gene

Items: 56