ClinVar for Gene (Select 4647) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3378345	NM_000260.4(MYO7A):c.502A>G (p.Thr168Ala)	MYO7A (T157A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3377572	NM_000260.4(MYO7A):c.4450C>A (p.Leu1484Ile)	MYO7A (L1473I +1 more)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 11	GUncertain significance
Select item 3377450	NM_000260.4(MYO7A):c.3551C>G (p.Ser1184Cys)	MYO7A (S1173C +1 more)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 11	GUncertain significance
Select item 3376764	NM_000260.4(MYO7A):c.3315C>A (p.Ser1105Arg)	MYO7A (S1094R +1 more)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 11	GUncertain significance
Select item 3376697	NM_000260.4(MYO7A):c.2699G>T (p.Arg900Leu)	MYO7A (R889L +1 more)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 11	GUncertain significance
Select item 3376073	NM_000260.4(MYO7A):c.6443T>A (p.Ile2148Asn)	MYO7A (I2099N +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3375449	NM_000260.4(MYO7A):c.5710dup (p.His1904fs)	MYO7A (H1855fs +2 more)	Duplication (frameshift variant)	Usher syndrome	GPathogenic
Select item 3373725	NM_000260.4(MYO7A):c.175A>G (p.Met59Val)	MYO7A (M48V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3371869	NM_000260.4(MYO7A):c.2789A>C (p.Glu930Ala)	MYO7A (E919A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3371592	NM_000260.4(MYO7A):c.2132C>G (p.Ala711Gly)	MYO7A (A700G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3371563	NM_000260.4(MYO7A):c.2352G>T (p.Arg784Ser)	MYO7A (R773S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3370681	NM_000260.4(MYO7A):c.82G>A (p.Val28Met)	MYO7A (V17M +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3368801	NM_000260.4(MYO7A):c.272A>C (p.Asp91Ala)	MYO7A (D80A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3367994	NM_000260.4(MYO7A):c.5294A>C (p.Glu1765Ala)	MYO7A (E1716A +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3367693	NM_000260.4(MYO7A):c.2473C>G (p.Arg825Gly)	MYO7A (R814G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3367692	NM_000260.4(MYO7A):c.262C>A (p.Arg88Ser)	MYO7A (R77S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3366728	NM_000260.4(MYO7A):c.3671C>T (p.Ala1224Val)	MYO7A (A1213V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3366273	NM_000260.4(MYO7A):c.2372G>C (p.Arg791Pro)	MYO7A (R780P +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3365590	NM_000260.4(MYO7A):c.1871C>G (p.Thr624Arg)	MYO7A (T613R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3365206	NM_000260.4(MYO7A):c.5743-12_5743-10delinsCGG	MYO7A	Indel (intron variant)	not provided	GUncertain significance
Select item 3363395	NM_000260.4(MYO7A):c.3937G>A (p.Gly1313Ser)	MYO7A (G1302S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3363286	NM_000260.4(MYO7A):c.4251C>G (p.Ile1417Met)	MYO7A (I1406M +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3361662	NM_000260.4(MYO7A):c.1402C>T (p.His468Tyr)	MYO7A (H457Y +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3356099	NM_000260.4(MYO7A):c.881A>G (p.Asp294Gly)	MYO7A (D283G +1 more)	Single nucleotide variant (missense variant)	MYO7A-related disorder	GUncertain significance
Select item 3353237	NM_000260.4(MYO7A):c.3503+15_3503+33del	MYO7A	Deletion (intron variant)	MYO7A-related disorder	GLikely benign
Select item 3346261	NM_000260.4(MYO7A):c.619A>G (p.Asn207Asp)	MYO7A (N196D +1 more)	Single nucleotide variant (missense variant)	MYO7A-related disorder	GUncertain significance
Select item 3344717	NM_000260.4(MYO7A):c.2858C>A (p.Ser953Ter)	MYO7A (S942* +1 more)	Single nucleotide variant (nonsense)	MYO7A-related disorder	GLikely pathogenic
Select item 3343560	NM_000260.4(MYO7A):c.4018G>T (p.Ala1340Ser)	MYO7A (A1329S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3343519	NM_000260.4(MYO7A):c.760G>A (p.Val254Met)	MYO7A (V243M +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3342238	NM_000260.4(MYO7A):c.3851_3878dup (p.Lys1294fs)	MYO7A (K1283fs +1 more)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 3340013	NM_000260.4(MYO7A):c.5480+4A>G	MYO7A	Single nucleotide variant (intron variant)	not specified	GUncertain significance
Select item 3339303	NM_000260.4(MYO7A):c.6237+3G>A	MYO7A	Single nucleotide variant (intron variant)	not specified	GUncertain significance
Select item 3339128	NM_000260.4(MYO7A):c.6354G>A (p.Lys2118=)	MYO7A	Single nucleotide variant (synonymous variant +1 more)	not specified	GUncertain significance
Select item 3338135	NM_000260.4(MYO7A):c.19-5700G>A	MYO7A	Single nucleotide variant (intron variant)	Hearing impairment	GUncertain significance
Select item 3337380	NM_000260.4(MYO7A):c.5858T>C (p.Val1953Ala)	MYO7A (V1904A +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3337379	NM_000260.4(MYO7A):c.3067A>C (p.Lys1023Gln)	MYO7A (K1012Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3337377	NM_000260.4(MYO7A):c.1942G>T (p.Asp648Tyr)	MYO7A (D637Y +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3337376	NM_000260.4(MYO7A):c.1400G>C (p.Arg467Pro)	MYO7A (R456P +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3297925	NM_000260.4(MYO7A):c.850G>A (p.Gly284Ser)	MYO7A (G273S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3297924	NM_000260.4(MYO7A):c.5243C>A (p.Thr1748Lys)	MYO7A (T1699K +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3297923	NM_000260.4(MYO7A):c.1958T>C (p.Val653Ala)	MYO7A (V642A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3297921	NM_000260.4(MYO7A):c.5289T>G (p.Ser1763Arg)	MYO7A (S1714R +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3256713	NM_000260.4(MYO7A):c.1973del (p.Tyr658fs)	MYO7A (Y647fs +1 more)	Deletion (frameshift variant)	Usher syndrome	GPathogenic
Select item 3253439	NM_000260.4(MYO7A):c.2494G>A (p.Ala832Thr)	MYO7A (A821T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3251534	NM_000260.4(MYO7A):c.670C>T (p.Arg224Trp)	MYO7A (R213W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3250704	NM_000260.4(MYO7A):c.4079A>G (p.Asp1360Gly)	MYO7A (D1349G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3250372	NM_000260.4(MYO7A):c.3547C>A (p.Pro1183Thr)	MYO7A (P1172T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3250294	NM_000260.4(MYO7A):c.1955G>A (p.Cys652Tyr)	MYO7A (C641Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3244724	NC_000011.9:g.(?_76911660)_(76917177_?)del	MYO7A	Deletion	not provided	GLikely pathogenic
Select item 3244723	NC_000011.9:g.(?_76910586)_(76920278_?)del	MYO7A	Deletion	not provided	GPathogenic
Select item 3244722	NC_000011.9:g.(?_76893618)_(76900789_?)del	MYO7A	Deletion	not provided	GPathogenic
Select item 3244721	NC_000011.9:g.(?_76890171)_(76892077_?)del	MYO7A	Deletion	not provided	GLikely pathogenic
Select item 3244720	NC_000011.9:g.(?_76872031)_(76873712_?)del	MYO7A	Deletion	not provided	GPathogenic
Select item 3244719	NC_000011.9:g.(?_76894093)_(76915294_?)dup	MYO7A	Duplication	not provided	GLikely pathogenic
Select item 3244718	NC_000011.9:g.(?_76868496)_(76871999_?)del	MYO7A	Deletion	not provided	GPathogenic
Select item 3244716	NC_000011.9:g.(?_76861425)_(76868063_?)del	MYO7A	Deletion	not provided	GPathogenic
Select item 3244715	NC_000011.9:g.(?_76924874)_(76927099_?)del	MYO7A	Deletion	not provided	GLikely pathogenic
Select item 3244714	NC_000011.9:g.(?_76853735)_(76868458_?)del	MYO7A	Deletion	not provided	GPathogenic
Select item 3244713	NC_000011.9:g.(?_76883774)_(76892655_?)del	MYO7A	Deletion	not provided	GPathogenic
Select item 3244712	NC_000011.9:g.(?_76901666)_(76901927_?)del	MYO7A	Deletion	not provided	GPathogenic
Select item 3244711	NC_000011.9:g.(?_76870473)_(76870589_?)del	MYO7A	Deletion	not provided	GPathogenic
Select item 3239682	NM_000260.4(MYO7A):c.5441_5442dup (p.Val1815fs)	MYO7A (V1766fs +2 more)	Microsatellite (frameshift variant)	Autosomal recessive nonsyndromic hearing loss 2	GPathogenic
Select item 3237173	NM_000260.4(MYO7A):c.272del (p.Asp91fs)	MYO7A (D80fs +1 more)	Deletion (frameshift variant)	Usher syndrome type 1	GLikely pathogenic
Select item 3237168	NM_000260.4(MYO7A):c.2975_2981delinsCAG (p.Asp992fs)	MYO7A (D981fs +1 more)	Indel (frameshift variant)	Autosomal recessive nonsyndromic hearing loss 2	GPathogenic
Select item 3236760	NM_000260.4(MYO7A):c.616C>G (p.Arg206Gly)	MYO7A (R195G +1 more)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 11	GUncertain significance
Select item 3236335	NM_000260.4(MYO7A):c.5411del (p.Leu1804fs)	MYO7A (L1755fs +2 more)	Deletion (frameshift variant)	Autosomal recessive nonsyndromic hearing loss 2	GPathogenic
Select item 3234945	NM_000260.4(MYO7A):c.1267_1270del (p.Ser423fs)	MYO7A (S412fs +1 more)	Microsatellite (frameshift variant)	Autosomal recessive nonsyndromic hearing loss 2	GLikely pathogenic
Select item 3233328	NM_000260.4(MYO7A):c.3587C>G (p.Ser1196Cys)	MYO7A (S1185C +1 more)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 11	GUncertain significance
Select item 3166007	NM_000260.4(MYO7A):c.5711A>G (p.His1904Arg)	MYO7A (H1904R +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3165917	NM_000260.4(MYO7A):c.3998A>C (p.Gln1333Pro)	MYO7A (Q1322P +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3165878	NM_000260.4(MYO7A):c.3009G>T (p.Lys1003Asn)	MYO7A (K1003N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3165861	NM_000260.4(MYO7A):c.2582C>T (p.Ala861Val)	MYO7A (A861V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3165785	NM_000260.4(MYO7A):c.1229T>C (p.Ile410Thr)	MYO7A (I399T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3075996	NM_000260.4(MYO7A):c.1935+4A>T	MYO7A	Single nucleotide variant (intron variant)	Rare genetic deafness	GLikely pathogenic
Select item 3068632	NM_000260.4(MYO7A):c.5169-6C>A	MYO7A	Single nucleotide variant (intron variant)	Nonsyndromic genetic hearing loss	GUncertain significance
Select item 3067466	NM_000260.4(MYO7A):c.3176C>T (p.Thr1059Ile)	MYO7A (T1048I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3065409	NM_000260.4(MYO7A):c.1217T>A (p.Leu406Gln)	MYO7A (L395Q +1 more)	Single nucleotide variant (missense variant)	Usher syndrome type 1	GLikely pathogenic
Select item 3065333	NM_000260.4(MYO7A):c.5861T>C (p.Leu1954Pro)	MYO7A (L1905P +2 more)	Single nucleotide variant (missense variant)	Usher syndrome type 1	GUncertain significance
Select item 3065063	NM_000260.4(MYO7A):c.5174C>A (p.Pro1725Gln)	MYO7A (P1676Q +2 more)	Single nucleotide variant (missense variant)	Usher syndrome type 1	GUncertain significance
Select item 3063873	NM_000260.4(MYO7A):c.4268C>T (p.Thr1423Met)	MYO7A (T1412M +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 3063643	NM_000260.4(MYO7A):c.4587C>G (p.Leu1529=)	MYO7A	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 3062010	NM_000260.4(MYO7A):c.845C>A (p.Ala282Asp)	MYO7A (A271D +1 more)	Single nucleotide variant (missense variant)	Usher syndrome type 1	GLikely pathogenic
Select item 3058075	NM_000260.4(MYO7A):c.3822G>A (p.Thr1274=)	MYO7A	Single nucleotide variant (synonymous variant)	MYO7A-related disorder	GLikely benign
Select item 3057515	NM_000260.4(MYO7A):c.3631-8G>A	MYO7A	Single nucleotide variant (intron variant)	MYO7A-related disorder	GLikely benign
Select item 3041273	NM_000260.4(MYO7A):c.3847C>T (p.Leu1283Phe)	MYO7A (L1272F +1 more)	Single nucleotide variant (missense variant)	MYO7A-related disorder	GUncertain significance
Select item 3031614	NM_000260.4(MYO7A):c.2507_2508del (p.Arg836fs)	MYO7A (R825fs +1 more)	Deletion (frameshift variant)	MYO7A-related disorder	GLikely pathogenic
Select item 3031077	NM_000260.4(MYO7A):c.3846G>T (p.Glu1282Asp)	MYO7A (E1271D +1 more)	Single nucleotide variant (missense variant)	MYO7A-related disorder	GUncertain significance
Select item 3026016	NM_000260.4(MYO7A):c.4997G>T (p.Ser1666Ile)	MYO7A (S1617I +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3024083	NM_000260.4(MYO7A):c.2165G>T (p.Gly722Val)	MYO7A (G711V +1 more)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 11	GUncertain significance
Select item 3023637	NM_000260.4(MYO7A):c.425A>G (p.Tyr142Cys)	MYO7A (Y142C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3020938	NM_000260.4(MYO7A):c.5636+19G>A	MYO7A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3019716	NM_000260.4(MYO7A):c.6355-17C>G	MYO7A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3019192	NM_000260.4(MYO7A):c.2586+16C>T	MYO7A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3019043	NM_000260.4(MYO7A):c.2905-20A>G	MYO7A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3018765	NM_000260.4(MYO7A):c.2094+20G>A	MYO7A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3018523	NM_000260.4(MYO7A):c.2694+19G>A	MYO7A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3018506	NM_000260.4(MYO7A):c.1798-19C>T	MYO7A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3018410	NM_000260.4(MYO7A):c.6606C>T (p.Leu2202=)	MYO7A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3018287	NM_000260.4(MYO7A):c.5856+20C>T	MYO7A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3018060	NM_000260.4(MYO7A):c.6355-14A>C	MYO7A	Single nucleotide variant (intron variant)	not provided	GLikely benign

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