7607[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 153085	GRCh38/hg38 2q14.1-14.3(chr2:115302067-129071130)x1	AMMECR1L, BIN1 +254 more	Copy number loss	See cases	GPathogenic
Select item 60184	GRCh38/hg38 2q14.1-21.3(chr2:118086324-134964738)x1	ACMSD, AMER3 +391 more	Copy number loss	See cases	GPathogenic
Select item 60185	GRCh38/hg38 2q14.3(chr2:121824798-128870804)x1	AMMECR1L, BIN1 +121 more	Copy number loss	See cases	GPathogenic
Select item 60186	GRCh38/hg38 2q14.3(chr2:122324343-128371704)x1	LOC115945190, LOC120961783 +101 more	Copy number loss	See cases	GPathogenic
Select item 148393	GRCh38/hg38 2q14.3-21.1(chr2:122847356-129545581)x1	AMMECR1L, BIN1 +116 more	Copy number loss	See cases	GLikely pathogenic
Select item 146132	GRCh38/hg38 2q14.3(chr2:123169989-128460075)x1	AMMECR1L, BIN1 +100 more	Copy number loss	See cases	GPathogenic
Select item 147544	GRCh38/hg38 2q14.3-22.1(chr2:123445762-140592538)x1	ACMSD, AMER3 +336 more	Copy number loss	See cases	GPathogenic
Select item 1180433	NC_000002.12:g.124348648_129410245del	LOC129934710, LOC129934711 +112 more	Deletion	See cases	Gnot provided
Select item 149324	GRCh38/hg38 2q14.3-21.1(chr2:127063206-130527454)x3	AMMECR1L, BIN1 +125 more	Copy number gain	See cases	GUncertain significance
Select item 2258628	NM_001393586.1(MYO7B):c.56A>G (p.Lys19Arg)	LOC105373609, MYO7B (K19R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3166081	NM_001393586.1(MYO7B):c.107T>C (p.Val36Ala)	LOC105373609, MYO7B (V36A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3035564	NM_001393586.1(MYO7B):c.132+8T>C	LOC105373609, MYO7B	Single nucleotide variant (intron variant)	MYO7B-related disorder	GBenign
Select item 2411420	NM_001393586.1(MYO7B):c.146G>A (p.Arg49Gln)	LOC105373609, MYO7B (R49Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2214820	NM_001393586.1(MYO7B):c.205G>A (p.Asp69Asn)	LOC105373609, MYO7B (D69N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2346452	NM_001393586.1(MYO7B):c.214C>T (p.Arg72Cys)	LOC105373609, MYO7B (R72C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3166190	NM_001393586.1(MYO7B):c.223G>A (p.Asp75Asn)	LOC105373609, MYO7B (D75N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2352806	NM_001393586.1(MYO7B):c.290A>T (p.Tyr97Phe)	LOC105373609, MYO7B (Y97F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3057678	NM_001393586.1(MYO7B):c.312C>T (p.Ala104=)	LOC105373609, MYO7B	Single nucleotide variant (synonymous variant)	MYO7B-related disorder	GLikely benign
Select item 3038634	NM_001393586.1(MYO7B):c.339C>G (p.Leu113=)	LOC105373609, MYO7B	Single nucleotide variant (synonymous variant)	MYO7B-related disorder	GBenign
Select item 2379921	NM_001393586.1(MYO7B):c.373C>T (p.Arg125Cys)	LOC105373609, MYO7B (R125C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 789705	NM_001393586.1(MYO7B):c.396G>A (p.Pro132=)	LOC105373609, MYO7B	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2396602	NM_001393586.1(MYO7B):c.412G>A (p.Ala138Thr)	LOC105373609, MYO7B (A138T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3059046	NM_001393586.1(MYO7B):c.426C>T (p.Tyr142=)	LOC105373609, MYO7B	Single nucleotide variant (synonymous variant)	MYO7B-related disorder	GBenign
Select item 2282038	NM_001393586.1(MYO7B):c.463A>G (p.Ile155Val)	LOC105373609, MYO7B (I155V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3297930	NM_001393586.1(MYO7B):c.554T>C (p.Ile185Thr)	LOC105373609, MYO7B (I185T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3354526	NM_001393586.1(MYO7B):c.565G>A (p.Val189Ile)	LOC105373609, MYO7B (V189I)	Single nucleotide variant (missense variant)	MYO7B-related disorder	GUncertain significance
Select item 3041779	NM_001393586.1(MYO7B):c.592+7A>C	LOC105373609, MYO7B	Single nucleotide variant (intron variant)	MYO7B-related disorder	GLikely benign
Select item 3166451	NM_001393586.1(MYO7B):c.604G>T (p.Ala202Ser)	MYO7B (A202S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2375836	NM_001393586.1(MYO7B):c.617G>A (p.Arg206His)	MYO7B (R206H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3166468	NM_001393586.1(MYO7B):c.652G>A (p.Asp218Asn)	MYO7B (D218N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3038652	NM_001393586.1(MYO7B):c.702A>G (p.Gln234=)	MYO7B	Single nucleotide variant (synonymous variant)	MYO7B-related disorder	GBenign
Select item 2303271	NM_001393586.1(MYO7B):c.730C>T (p.Arg244Trp)	MYO7B (R244W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3166476	NM_001393586.1(MYO7B):c.731G>A (p.Arg244Gln)	MYO7B (R244Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3033363	NM_001393586.1(MYO7B):c.735+7C>G	MYO7B	Single nucleotide variant (intron variant)	MYO7B-related disorder	GBenign
Select item 3037233	NM_001393586.1(MYO7B):c.735+8C>A	MYO7B	Single nucleotide variant (intron variant)	MYO7B-related disorder	GBenign
Select item 3056023	NM_001393586.1(MYO7B):c.736-10T>A	MYO7B	Single nucleotide variant (intron variant)	MYO7B-related disorder	GLikely benign
Select item 3049776	NM_001393586.1(MYO7B):c.736-6T>A	MYO7B	Single nucleotide variant (intron variant)	MYO7B-related disorder	GLikely benign
Select item 3166480	NM_001393586.1(MYO7B):c.742G>C (p.Glu248Gln)	MYO7B (E248Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2227949	NM_001393586.1(MYO7B):c.747G>T (p.Glu249Asp)	MYO7B (E249D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2388249	NM_001393586.1(MYO7B):c.780G>A (p.Met260Ile)	MYO7B (M260I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3352847	NM_001393586.1(MYO7B):c.849+3G>A	MYO7B	Single nucleotide variant (intron variant)	MYO7B-related disorder	GLikely benign
Select item 3166491	NM_001393586.1(MYO7B):c.905G>A (p.Arg302His)	MYO7B (R302H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3058409	NM_001393586.1(MYO7B):c.909G>A (p.Ser303=)	MYO7B	Single nucleotide variant (synonymous variant)	MYO7B-related disorder	GLikely benign
Select item 2346666	NM_001393586.1(MYO7B):c.940G>A (p.Glu314Lys)	LOC129934725, MYO7B (E314K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3166497	NM_001393586.1(MYO7B):c.952G>A (p.Val318Ile)	LOC129934725, MYO7B (V318I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3035308	NM_001393586.1(MYO7B):c.1014C>T (p.Phe338=)	MYO7B	Single nucleotide variant (synonymous variant)	MYO7B-related disorder	GLikely benign
Select item 2456023	NM_001393586.1(MYO7B):c.1015G>A (p.Glu339Lys)	MYO7B (E339K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3037528	NM_001393586.1(MYO7B):c.1026C>T (p.Asp342=)	MYO7B	Single nucleotide variant (synonymous variant)	MYO7B-related disorder	GBenign
Select item 2250000	NM_001393586.1(MYO7B):c.1042G>A (p.Glu348Lys)	MYO7B (E348K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 284735	NM_001393586.1(MYO7B):c.1046C>T (p.Thr349Met)	MYO7B (T349M)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2354700	NM_001393586.1(MYO7B):c.1063G>A (p.Val355Met)	MYO7B (V355M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3059783	NM_001393586.1(MYO7B):c.1081-10G>T	MYO7B	Single nucleotide variant (intron variant)	MYO7B-related disorder	GBenign
Select item 2454601	NM_001393586.1(MYO7B):c.1127T>C (p.Leu376Pro)	MYO7B (L376P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3166084	NM_001393586.1(MYO7B):c.1161C>G (p.Asn387Lys)	MYO7B (N387K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2398577	NM_001393586.1(MYO7B):c.1165G>A (p.Ala389Thr)	MYO7B (A389T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3061319	NM_001393586.1(MYO7B):c.1189G>T (p.Ala397Ser)	MYO7B (A397S)	Single nucleotide variant (missense variant)	MYO7B-related disorder	GUncertain significance
Select item 3297928	NM_001393586.1(MYO7B):c.1268C>T (p.Ala423Val)	MYO7B (A423V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2211935	NM_001393586.1(MYO7B):c.1288C>T (p.Arg430Trp)	MYO7B (R430W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2357754	NM_001393586.1(MYO7B):c.1338C>A (p.Asn446Lys)	MYO7B (N446K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3035386	NM_001393586.1(MYO7B):c.1369G>A (p.Ala457Thr)	MYO7B (A457T)	Single nucleotide variant (missense variant)	MYO7B-related disorder	GBenign
Select item 3166101	NM_001393586.1(MYO7B):c.1432C>T (p.Arg478Cys)	MYO7B (R478C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3166111	NM_001393586.1(MYO7B):c.1433G>T (p.Arg478Leu)	MYO7B (R478L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2618645	NM_001393586.1(MYO7B):c.1433G>A (p.Arg478His)	MYO7B (R478H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3166118	NM_001393586.1(MYO7B):c.1460T>C (p.Ile487Thr)	MYO7B (I487T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2241853	NM_001393586.1(MYO7B):c.1495C>G (p.Leu499Val)	MYO7B (L499V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3166128	NM_001393586.1(MYO7B):c.1544G>A (p.Arg515His)	MYO7B (R515H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3060919	NM_001393586.1(MYO7B):c.1551G>A (p.Pro517=)	MYO7B	Single nucleotide variant (synonymous variant)	MYO7B-related disorder	GBenign
Select item 3166131	NM_001393586.1(MYO7B):c.1591G>C (p.Val531Leu)	MYO7B (V531L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2390010	NM_001393586.1(MYO7B):c.1624A>C (p.Lys542Gln)	MYO7B (K542Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3060220	NM_001393586.1(MYO7B):c.1691-7T>C	MYO7B	Single nucleotide variant (intron variant)	MYO7B-related disorder	GBenign
Select item 3166136	NM_001393586.1(MYO7B):c.1709G>A (p.Arg570Gln)	MYO7B (R570Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3038692	NM_001393586.1(MYO7B):c.1713C>T (p.Asp571=)	MYO7B	Single nucleotide variant (synonymous variant)	MYO7B-related disorder	GLikely benign
Select item 2395862	NM_001393586.1(MYO7B):c.1822C>T (p.Arg608Cys)	MYO7B (R608C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2218375	NM_001393586.1(MYO7B):c.1823G>A (p.Arg608His)	MYO7B (R608H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2612895	NM_001393586.1(MYO7B):c.1844A>G (p.His615Arg)	MYO7B (H615R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2261878	NM_001393586.1(MYO7B):c.1846C>T (p.Leu616Phe)	MYO7B (L616F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2377613	NM_001393586.1(MYO7B):c.1873C>T (p.Arg625Trp)	MYO7B (R625W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3048994	NM_001393586.1(MYO7B):c.1877C>A (p.Pro626His)	MYO7B (P626H)	Single nucleotide variant (missense variant)	MYO7B-related disorder	GBenign
Select item 3033702	NM_001393586.1(MYO7B):c.1898T>C (p.Phe633Ser)	MYO7B (F633S)	Single nucleotide variant (missense variant)	MYO7B-related disorder	GLikely benign
Select item 2616181	NM_001393586.1(MYO7B):c.1977G>T (p.Glu659Asp)	MYO7B (E659D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2375769	NM_001393586.1(MYO7B):c.1998C>A (p.Phe666Leu)	MYO7B (F666L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2552572	NM_001393586.1(MYO7B):c.2003G>C (p.Arg668Pro)	MYO7B (R668P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3052268	NM_001393586.1(MYO7B):c.2034G>A (p.Ser678=)	MYO7B	Single nucleotide variant (synonymous variant)	MYO7B-related disorder	GLikely benign
Select item 3166165	NM_001393586.1(MYO7B):c.2050G>A (p.Val684Met)	MYO7B (V684M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3166170	NM_001393586.1(MYO7B):c.2055C>G (p.His685Gln)	MYO7B (H685Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3166178	NM_001393586.1(MYO7B):c.2075C>G (p.Pro692Arg)	MYO7B (P692R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3042937	NM_001393586.1(MYO7B):c.2088G>T (p.Thr696=)	MYO7B	Single nucleotide variant (synonymous variant)	MYO7B-related disorder	GBenign
Select item 3166183	NM_001393586.1(MYO7B):c.2161C>G (p.Arg721Gly)	MYO7B (R721G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2560038	NM_001393586.1(MYO7B):c.2177G>A (p.Gly726Asp)	MYO7B (G726D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2255588	NM_001393586.1(MYO7B):c.2179A>G (p.Ile727Val)	MYO7B (I727V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3044787	NM_001393586.1(MYO7B):c.2208A>C (p.Lys736Asn)	MYO7B (K736N)	Single nucleotide variant (missense variant)	MYO7B-related disorder	GBenign
Select item 2227558	NM_001393586.1(MYO7B):c.2276G>T (p.Arg759Ile)	MYO7B (R759I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3166194	NM_001393586.1(MYO7B):c.2279G>A (p.Ser760Asn)	MYO7B (S760N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3048626	NM_001393586.1(MYO7B):c.2295A>G (p.Arg765=)	MYO7B	Single nucleotide variant (synonymous variant)	MYO7B-related disorder	GLikely benign
Select item 3166195	NM_001393586.1(MYO7B):c.2297C>T (p.Ala766Val)	MYO7B (A766V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2592912	NM_001393586.1(MYO7B):c.2324G>A (p.Arg775Gln)	MYO7B (R775Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3052728	NM_001393586.1(MYO7B):c.2339+4C>T	MYO7B	Single nucleotide variant (intron variant)	MYO7B-related disorder	GBenign
Select item 2345300	NM_001393586.1(MYO7B):c.2349C>G (p.Phe783Leu)	MYO7B (F783L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3042338	NM_001393586.1(MYO7B):c.2461C>T (p.Arg821Trp)	MYO7B (R821W)	Single nucleotide variant (missense variant)	MYO7B-related disorder	GLikely benign
Select item 2355651	NM_001393586.1(MYO7B):c.2462G>A (p.Arg821Gln)	MYO7B (R821Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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