ClinVar for Gene (Select 4648) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 3353667	NM_001393586.1(MYO7B):c.4778C>T (p.Thr1593Met)	MYO7B (T1567M +2 more)	Single nucleotide variant (missense variant)	MYO7B-related disorder	GLikely benign
Select item 3352847	NM_001393586.1(MYO7B):c.849+3G>A	MYO7B	Single nucleotide variant (intron variant)	MYO7B-related disorder	GLikely benign
Select item 3345973	NM_001393586.1(MYO7B):c.5034G>A (p.Pro1678=)	MYO7B	Single nucleotide variant (synonymous variant)	MYO7B-related disorder	GLikely benign
Select item 3297935	NM_001393586.1(MYO7B):c.2603G>A (p.Gly868Asp)	MYO7B (G868D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3297934	NM_001393586.1(MYO7B):c.6315C>G (p.Cys2105Trp)	MYO7B (C2079W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3297933	NM_001393586.1(MYO7B):c.3457C>G (p.Leu1153Val)	MYO7B (L1153V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3297932	NM_001393586.1(MYO7B):c.4027G>A (p.Gly1343Ser)	MYO7B (G1317S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3297931	NM_001393586.1(MYO7B):c.5752C>T (p.Arg1918Trp)	MYO7B (R745W +2 more)	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 3297929	NM_001393586.1(MYO7B):c.2735C>T (p.Thr912Met)	MYO7B (T912M)	Single nucleotide variant (missense variant)	not specified	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 3297926	NM_001393586.1(MYO7B):c.4381G>T (p.Gly1461Trp)	MYO7B (G1461W +2 more)	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 3166491	NM_001393586.1(MYO7B):c.905G>A (p.Arg302His)	MYO7B (R302H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 3166476	NM_001393586.1(MYO7B):c.731G>A (p.Arg244Gln)	MYO7B (R244Q)	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 3166462	NM_001393586.1(MYO7B):c.6293G>C (p.Gly2098Ala)	MYO7B (G2072A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 3166447	NM_001393586.1(MYO7B):c.6001A>G (p.Lys2001Glu)	MYO7B (K2001E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3166422	NM_001393586.1(MYO7B):c.5498A>G (p.Asn1833Ser)	LOC129934729, MYO7B (N1833S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3166417	NM_001393586.1(MYO7B):c.5489A>C (p.Tyr1830Ser)	LOC129934729, MYO7B (Y657S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3166399	NM_001393586.1(MYO7B):c.5384G>A (p.Arg1795His)	MYO7B (R622H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3166388	NM_001393586.1(MYO7B):c.5187C>G (p.His1729Gln)	MYO7B (H556Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3166382	NM_001393586.1(MYO7B):c.5068T>A (p.Trp1690Arg)	MYO7B (W1690R +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3166373	NM_001393586.1(MYO7B):c.5027G>A (p.Arg1676Gln)	MYO7B (R503Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3166369	NM_001393586.1(MYO7B):c.4938G>A (p.Arg1646=)	MYO7B	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3166365	NM_001393586.1(MYO7B):c.4915G>A (p.Glu1639Lys)	MYO7B (E466K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3166362	NM_001393586.1(MYO7B):c.4861T>C (p.Phe1621Leu)	MYO7B (F1595L +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3166359	NM_001393586.1(MYO7B):c.4826C>T (p.Pro1609Leu)	MYO7B (P1583L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3166344	NM_001393586.1(MYO7B):c.4622C>T (p.Thr1541Ile)	MYO7B (T368I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3166334	NM_001393586.1(MYO7B):c.4339C>T (p.Arg1447Cys)	MYO7B (R1421C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3166327	NM_001393586.1(MYO7B):c.4315G>A (p.Glu1439Lys)	MYO7B (E1439K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3166317	NM_001393586.1(MYO7B):c.4210G>A (p.Ala1404Thr)	MYO7B (A1404T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3166312	NM_001393586.1(MYO7B):c.4175C>A (p.Pro1392Gln)	MYO7B (P1392Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3166307	NM_001393586.1(MYO7B):c.4120G>C (p.Val1374Leu)	MYO7B (V1374L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3166301	NM_001393586.1(MYO7B):c.4079A>G (p.His1360Arg)	MYO7B (H1360R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3166289	NM_001393586.1(MYO7B):c.3988G>A (p.Glu1330Lys)	MYO7B (E157K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3166277	NM_001393586.1(MYO7B):c.3808G>A (p.Val1270Met)	MYO7B (V1270M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3166262	NM_001393586.1(MYO7B):c.3332G>A (p.Arg1111Gln)	MYO7B (R1085Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3166256	NM_001393586.1(MYO7B):c.3290T>C (p.Ile1097Thr)	MYO7B (I1097T +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3166249	NM_001393586.1(MYO7B):c.3004G>A (p.Glu1002Lys)	MYO7B (E1002K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3166239	NM_001393586.1(MYO7B):c.2908G>A (p.Glu970Lys)	MYO7B (E970K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3166202	NM_001393586.1(MYO7B):c.2497C>T (p.Arg833Trp)	MYO7B (R833W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 3166194	NM_001393586.1(MYO7B):c.2279G>A (p.Ser760Asn)	MYO7B (S760N)	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 3166183	NM_001393586.1(MYO7B):c.2161C>G (p.Arg721Gly)	MYO7B (R721G)	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 3166170	NM_001393586.1(MYO7B):c.2055C>G (p.His685Gln)	MYO7B (H685Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 3166136	NM_001393586.1(MYO7B):c.1709G>A (p.Arg570Gln)	MYO7B (R570Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 3166128	NM_001393586.1(MYO7B):c.1544G>A (p.Arg515His)	MYO7B (R515H)	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 3166111	NM_001393586.1(MYO7B):c.1433G>T (p.Arg478Leu)	MYO7B (R478L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 3166084	NM_001393586.1(MYO7B):c.1161C>G (p.Asn387Lys)	MYO7B (N387K)	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 3062651	GRCh37/hg19 2q12.2-21.2(chr2:106755586-134302739)x1	ACOXL, ACTR3 +121 more	Copy number loss	not specified	GPathogenic
Select item 3062624	GRCh37/hg19 2q14.3(chr2:125361063-129616153)x3	AMMECR1L, BIN1 +16 more	Copy number gain	not specified	GUncertain significance
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 3060919	NM_001393586.1(MYO7B):c.1551G>A (p.Pro517=)	MYO7B	Single nucleotide variant (synonymous variant)	MYO7B-related disorder	GBenign
Select item 3060246	NM_001393586.1(MYO7B):c.3960C>T (p.His1320=)	MYO7B	Single nucleotide variant (synonymous variant)	MYO7B-related disorder	GBenign
Select item 3060220	NM_001393586.1(MYO7B):c.1691-7T>C	MYO7B	Single nucleotide variant (intron variant)	MYO7B-related disorder	GBenign
Select item 3060099	NM_001393586.1(MYO7B):c.5821-8T>C	MYO7B	Single nucleotide variant (intron variant)	MYO7B-related disorder	GBenign
Select item 3059783	NM_001393586.1(MYO7B):c.1081-10G>T	MYO7B	Single nucleotide variant (intron variant)	MYO7B-related disorder	GBenign
Select item 3059782	NM_001393586.1(MYO7B):c.3532C>G (p.Leu1178Val)	MYO7B (L1152V +2 more)	Single nucleotide variant (missense variant)	MYO7B-related disorder	GBenign
Select item 3059138	NM_001393586.1(MYO7B):c.2826G>A (p.Ser942=)	MYO7B	Single nucleotide variant (synonymous variant)	MYO7B-related disorder	GBenign
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 3058692	NM_001393586.1(MYO7B):c.4098C>T (p.Gly1366=)	MYO7B	Single nucleotide variant (synonymous variant)	MYO7B-related disorder	GLikely benign
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 3057678	NM_001393586.1(MYO7B):c.312C>T (p.Ala104=)	LOC105373609, MYO7B	Single nucleotide variant (synonymous variant)	MYO7B-related disorder	GLikely benign
Select item 3057457	NM_001393586.1(MYO7B):c.2802G>A (p.Ser934=)	MYO7B	Single nucleotide variant (synonymous variant)	MYO7B-related disorder	GLikely benign
Select item 3056512	NM_001393586.1(MYO7B):c.4947G>A (p.Glu1649=)	MYO7B	Single nucleotide variant (synonymous variant)	MYO7B-related disorder	GBenign
Select item 3056333	NM_001393586.1(MYO7B):c.6392A>G (p.Gln2131Arg)	MYO7B (Q2105R +2 more)	Single nucleotide variant (missense variant)	MYO7B-related disorder	GBenign
Select item 3056212	NM_001393586.1(MYO7B):c.5714-7C>T	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 3055711	NM_001393586.1(MYO7B):c.6024T>C (p.Tyr2008=)	MYO7B	Single nucleotide variant (synonymous variant)	MYO7B-related disorder	GBenign
Select item 3055551	NM_001393586.1(MYO7B):c.5019G>C (p.Glu1673Asp)	MYO7B (E1647D +2 more)	Single nucleotide variant (missense variant)	MYO7B-related disorder	GBenign
Select item 3052912	NM_001393586.1(MYO7B):c.4333+8C>A	MYO7B	Single nucleotide variant (intron variant)	MYO7B-related disorder	GLikely benign
Select item 3052728	NM_001393586.1(MYO7B):c.2339+4C>T	MYO7B	Single nucleotide variant (intron variant)	MYO7B-related disorder	GBenign
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 3052172	NM_001393586.1(MYO7B):c.6153C>T (p.Val2051=)	MYO7B	Single nucleotide variant (synonymous variant)	MYO7B-related disorder	GLikely benign
Select item 3051509	NM_001393586.1(MYO7B):c.5059G>A (p.Val1687Ile)	MYO7B (V1661I +2 more)	Single nucleotide variant (missense variant)	MYO7B-related disorder	GLikely benign
Select item 3051050	NM_001393586.1(MYO7B):c.4209C>T (p.Cys1403=)	MYO7B	Single nucleotide variant (synonymous 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 3049752	NM_001393586.1(MYO7B):c.6086G>A (p.Arg2029Gln)	MYO7B (R2003Q +2 more)	Single nucleotide variant (missense variant)	MYO7B-related disorder	GBenign
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 3048626	NM_001393586.1(MYO7B):c.2295A>G (p.Arg765=)	MYO7B	Single nucleotide variant (synonymous variant)	MYO7B-related disorder	GLikely benign
Select item 3045359	NM_001393586.1(MYO7B):c.2878G>A (p.Glu960Lys)	MYO7B (E960K)	Single nucleotide variant (missense variant)	MYO7B-related disorder	GLikely benign
Select item 3045320	NM_001393586.1(MYO7B):c.5052C>T (p.His1684=)	MYO7B	Single nucleotide variant (synonymous variant)	MYO7B-related disorder	GLikely benign
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 3044021	NM_001393586.1(MYO7B):c.4194C>T (p.Leu1398=)	MYO7B	Single nucleotide variant (synonymous variant)	MYO7B-related disorder	GLikely benign
Select item 3043857	NM_001393586.1(MYO7B):c.6123+9T>C	MYO7B	Single nucleotide variant (intron variant)	MYO7B-related disorder	GBenign
Select item 3042937	NM_001393586.1(MYO7B):c.2088G>T (p.Thr696=)	MYO7B	Single nucleotide variant (synonymous variant)	MYO7B-related disorder	GBenign
Select item 3042741	NM_001393586.1(MYO7B):c.5839C>T (p.Arg1947Cys)	MYO7B (R1921C +2 more)	Single nucleotide variant (missense variant)	MYO7B-related disorder	GBenign
Select item 3042738	NM_001393586.1(MYO7B):c.3483C>T (p.Ser1161=)	MYO7B	Single nucleotide variant (synonymous variant +1 more)	MYO7B-related disorder	GLikely benign
Select item 3042338	NM_001393586.1(MYO7B):c.2461C>T (p.Arg821Trp)	MYO7B (R821W)	Single nucleotide variant (missense variant)	MYO7B-related disorder	GLikely benign

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