ClinVar for Gene (Select 4647) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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	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 3058075	NM_000260.4(MYO7A):c.3822G>A (p.Thr1274=)	MYO7A	Single nucleotide variant (synonymous variant)	MYO7A-related condition	GLikely benign
Select item 3057515	NM_000260.4(MYO7A):c.3631-8G>A	MYO7A	Single nucleotide variant (intron variant)	MYO7A-related condition	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 condition	GUncertain significance
Select item 3031614	NM_000260.4(MYO7A):c.2507_2508del (p.Arg836fs)	MYO7A (R825fs +1 more)	Deletion (frameshift variant)	MYO7A-related condition	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 condition	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
Select item 3018020	NM_000260.4(MYO7A):c.1798-20G>C	MYO7A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3017476	NM_000260.4(MYO7A):c.593-14dup	MYO7A	Duplication (intron variant)	not provided	GLikely benign
Select item 3017374	NM_000260.4(MYO7A):c.592+17G>T	MYO7A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3017076	NM_000260.4(MYO7A):c.198C>A (p.Gly66=)	MYO7A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3017054	NM_000260.4(MYO7A):c.2961C>T (p.Pro987=)	MYO7A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3016615	NM_000260.4(MYO7A):c.4324-3C>T	MYO7A	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 3014260	NM_000260.4(MYO7A):c.285+13C>T	MYO7A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3014250	NM_000260.4(MYO7A):c.2095-13A>T	MYO7A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3013708	NM_000260.4(MYO7A):c.1555-17G>T	MYO7A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3013243	NM_000260.4(MYO7A):c.285+19G>T	MYO7A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3012032	NM_000260.4(MYO7A):c.849+19C>T	MYO7A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3011856	NM_000260.4(MYO7A):c.4063C>T (p.His1355Tyr)	MYO7A (H1344Y +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3011633	NM_000260.4(MYO7A):c.3108+5G>A	MYO7A	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 3011526	NM_000260.4(MYO7A):c.1089C>T (p.Pro363=)	MYO7A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3010872	NM_000260.4(MYO7A):c.5062C>G (p.Pro1688Ala)	MYO7A (P1688A +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3010655	NM_000260.4(MYO7A):c.2289C>T (p.Asn763=)	MYO7A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3010593	NM_000260.4(MYO7A):c.3631-14T>G	MYO7A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3010274	NM_000260.4(MYO7A):c.6396C>T (p.Ala2132=)	MYO7A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3009799	NM_000260.4(MYO7A):c.2695-9A>T	MYO7A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3009174	NM_000260.4(MYO7A):c.2426A>T (p.Gln809Leu)	MYO7A (Q809L +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3009150	NM_000260.4(MYO7A):c.1936-5G>C	MYO7A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3008225	NM_000260.4(MYO7A):c.1555-10C>T	MYO7A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3007966	NM_000260.4(MYO7A):c.3751-20C>T	MYO7A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3007432	NM_000260.4(MYO7A):c.1936-17G>T	MYO7A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3007313	NM_000260.4(MYO7A):c.5637-17C>T	MYO7A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3007060	NM_000260.4(MYO7A):c.1521C>G (p.Ile507Met)	MYO7A (I496M +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3006841	NM_000260.4(MYO7A):c.286-10C>T	MYO7A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3006523	NM_000260.4(MYO7A):c.286-19C>T	MYO7A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3006370	NM_000260.4(MYO7A):c.849+19C>G	MYO7A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3005267	NM_000260.4(MYO7A):c.4152+13G>T	MYO7A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3004900	NM_000260.4(MYO7A):c.846dup (p.Met283fs)	MYO7A (M272fs +1 more)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 3004187	NM_000260.4(MYO7A):c.6439-12C>G	MYO7A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3004076	NM_000260.4(MYO7A):c.1936-13G>A	MYO7A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3003831	NM_000260.4(MYO7A):c.593-19C>T	MYO7A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3003240	NM_000260.4(MYO7A):c.2320A>G (p.Ile774Val)	MYO7A (I774V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3002867	NM_000260.4(MYO7A):c.4852+18T>G	MYO7A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3002858	NM_000260.4(MYO7A):c.850-20T>A	MYO7A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3002342	NM_000260.4(MYO7A):c.6051+13G>A	MYO7A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3001072	NM_000260.4(MYO7A):c.3751-13G>T	MYO7A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3000967	NM_000260.4(MYO7A):c.1004-14C>T	MYO7A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3000339	NM_000260.4(MYO7A):c.2282+20C>A	MYO7A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3000187	NM_000260.4(MYO7A):c.5856+14C>T	MYO7A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2999580	NM_000260.4(MYO7A):c.736-19A>G	MYO7A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2999548	NM_000260.4(MYO7A):c.5232G>A (p.Leu1744=)	MYO7A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2999144	NM_000260.4(MYO7A):c.264C>G (p.Arg88=)	MYO7A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2999073	NM_000260.4(MYO7A):c.6355-20C>T	MYO7A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2998600	NM_000260.4(MYO7A):c.593-20A>G	MYO7A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2998294	NM_000260.4(MYO7A):c.4569-4T>G	MYO7A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2997620	NM_000260.4(MYO7A):c.4153-13T>A	MYO7A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2997388	NM_000260.4(MYO7A):c.5637-13G>A	MYO7A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2997012	NM_000260.4(MYO7A):c.5637-4T>G	MYO7A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2996720	NM_000260.4(MYO7A):c.6297C>A (p.Ala2099=)	MYO7A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2996113	NM_000260.4(MYO7A):c.3108+14G>A	MYO7A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2995600	NM_000260.4(MYO7A):c.3892G>C (p.Gly1298Arg)	MYO7A (G1298R +1 more)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 2995459	NM_000260.4(MYO7A):c.6439-15T>C	MYO7A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2993831	NM_000260.4(MYO7A):c.18+15C>T	MYO7A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2993748	NM_000260.4(MYO7A):c.4468A>G (p.Ile1490Val)	MYO7A (I1479V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2992425	NM_000260.4(MYO7A):c.1555-18T>G	MYO7A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2991750	NM_000260.4(MYO7A):c.4827G>C (p.Val1609=)	MYO7A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2989366	NM_000260.4(MYO7A):c.4568+13G>T	MYO7A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2988780	NM_000260.4(MYO7A):c.3886C>G (p.Arg1296Gly)	MYO7A (R1285G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2988560	NM_000260.4(MYO7A):c.5169-16C>T	MYO7A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2988098	NM_000260.4(MYO7A):c.2910G>A (p.Leu970=)	MYO7A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2987799	NM_000260.4(MYO7A):c.5790C>T (p.Asn1930=)	MYO7A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2987768	NM_000260.4(MYO7A):c.3285+1G>A	MYO7A	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 2987120	NM_000260.4(MYO7A):c.5481-13CCT[2]	MYO7A	Microsatellite (intron variant)	not provided	GLikely benign
Select item 2986139	NM_000260.4(MYO7A):c.6007C>T (p.Pro2003Ser)	MYO7A (P1965S +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2986054	NM_000260.4(MYO7A):c.5326+10C>A	MYO7A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2985479	NM_000260.4(MYO7A):c.285+20G>C	MYO7A	Single nucleotide variant (intron variant)	not provided	GLikely benign

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