ClinVar for Gene (Select 4650) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3357001	NM_004145.4(MYO9B):c.6088_6108del (p.Gly2030_Pro2036del)	MYO9B	Deletion (3 prime UTR variant +1 more)	MYO9B-related disorder	GUncertain significance
Select item 3340523	NM_004145.4(MYO9B):c.848G>T (p.Gly283Val)	MYO9B (G283V)	Single nucleotide variant (missense variant)	Muscle weakness +1 more	GLikely pathogenic
Select item 3297976	NM_004145.4(MYO9B):c.4599G>C (p.Glu1533Asp)	MYO9B (E1533D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3297975	NM_004145.4(MYO9B):c.3323G>A (p.Arg1108Lys)	MYO9B (R1108K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3297974	NM_004145.4(MYO9B):c.3808G>A (p.Glu1270Lys)	MYO9B (E1270K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3297973	NM_004145.4(MYO9B):c.1081T>C (p.Tyr361His)	MYO9B (Y361H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3297972	NM_004145.4(MYO9B):c.971G>A (p.Arg324His)	MYO9B (R324H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3297971	NM_004145.4(MYO9B):c.4000C>G (p.Leu1334Val)	MYO9B (L1334V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3297970	NM_004145.4(MYO9B):c.6395A>G (p.Gln2132Arg)	MYO9B (Q2132R)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GLikely benign
Select item 3297969	NM_004145.4(MYO9B):c.3849G>T (p.Arg1283Ser)	MYO9B (R1283S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3297967	NM_004145.4(MYO9B):c.5300T>A (p.Ile1767Asn)	MYO9B (I1767N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3297966	NM_004145.4(MYO9B):c.1729G>A (p.Gly577Ser)	MYO9B (G577S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3297965	NM_004145.4(MYO9B):c.4111C>G (p.Gln1371Glu)	MYO9B (Q1371E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3297964	NM_004145.4(MYO9B):c.2096G>A (p.Arg699Gln)	MYO9B (R699Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3297963	NM_004145.4(MYO9B):c.582C>G (p.Ile194Met)	MYO9B (I194M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3297962	NM_004145.4(MYO9B):c.3005C>T (p.Thr1002Met)	MYO9B (T1002M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3297961	NM_004145.4(MYO9B):c.5584G>A (p.Asp1862Asn)	MYO9B (D1862N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3297960	NM_004145.4(MYO9B):c.5588C>T (p.Pro1863Leu)	MYO9B (P1863L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3297959	NM_004145.4(MYO9B):c.5375T>A (p.Leu1792His)	MYO9B (L1792H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3297958	NM_004145.4(MYO9B):c.2306G>A (p.Arg769Gln)	MYO9B (R769Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3297956	NM_004145.4(MYO9B):c.6263G>A (p.Arg2088Gln)	MYO9B (R2088Q)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GLikely benign
Select item 3167339	NM_004145.4(MYO9B):c.863C>G (p.Ala288Gly)	MYO9B (A288G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3167316	NM_004145.4(MYO9B):c.6433A>G (p.Thr2145Ala)	MYO9B (T2145A)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3167298	NM_004145.4(MYO9B):c.6195G>A (p.Met2065Ile)	MYO9B (M2065I)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3167292	NM_004145.4(MYO9B):c.6178C>T (p.Arg2060Trp)	MYO9B (R2060W)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3167287	NM_004145.4(MYO9B):c.6140G>T (p.Arg2047Met)	MYO9B (R2047M)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3167276	NM_004145.4(MYO9B):c.6092C>T (p.Ala2031Val)	MYO9B (A2031V)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3167273	NM_004145.4(MYO9B):c.6069G>A (p.Ala2023=)	MYO9B	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GLikely benign
Select item 3167263	NM_004145.4(MYO9B):c.6020G>T (p.Ser2007Ile)	MYO9B (S2007I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3167250	NM_004145.4(MYO9B):c.5634G>T (p.Glu1878Asp)	MYO9B (E1878D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3167232	NM_004145.4(MYO9B):c.5365G>A (p.Gly1789Ser)	MYO9B (G1789S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3167220	NM_004145.4(MYO9B):c.5263G>A (p.Ala1755Thr)	MYO9B (A1755T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3167212	NM_004145.4(MYO9B):c.514C>G (p.Gln172Glu)	MYO9B (Q172E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3167197	NM_004145.4(MYO9B):c.4874G>A (p.Arg1625His)	MYO9B (R1625H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3167188	NM_004145.4(MYO9B):c.4732A>G (p.Thr1578Ala)	MYO9B (T1578A)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3167182	NM_004145.4(MYO9B):c.4534A>C (p.Lys1512Gln)	MYO9B (K1512Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3167164	NM_004145.4(MYO9B):c.4384C>G (p.Gln1462Glu)	MYO9B (Q1462E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3167154	NM_004145.4(MYO9B):c.4346C>A (p.Ala1449Asp)	MYO9B (A1449D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3167128	NM_004145.4(MYO9B):c.3902T>C (p.Leu1301Pro)	MYO9B (L1301P)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3167106	NM_004145.4(MYO9B):c.3493C>T (p.His1165Tyr)	MYO9B (H1165Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3167100	NM_004145.4(MYO9B):c.3446A>G (p.Glu1149Gly)	MYO9B (E1149G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3167087	NM_004145.4(MYO9B):c.3390G>C (p.Gln1130His)	MYO9B (Q1130H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3167063	NM_004145.4(MYO9B):c.3208G>A (p.Glu1070Lys)	MYO9B (E1070K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3167041	NM_004145.4(MYO9B):c.3052C>T (p.Arg1018Trp)	MYO9B (R1018W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3167038	NM_004145.4(MYO9B):c.3036G>C (p.Trp1012Cys)	MYO9B (W1012C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3167027	NM_004145.4(MYO9B):c.2980C>T (p.Arg994Trp)	MYO9B (R994W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3167025	NM_004145.4(MYO9B):c.2953A>G (p.Thr985Ala)	MYO9B (T985A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3167011	NM_004145.4(MYO9B):c.2852C>T (p.Thr951Met)	MYO9B (T951M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3167008	NM_004145.4(MYO9B):c.2648G>A (p.Arg883His)	MYO9B (R883H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3167002	NM_004145.4(MYO9B):c.242A>G (p.Asn81Ser)	MYO9B (N81S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3166998	NM_004145.4(MYO9B):c.2212C>T (p.Leu738Phe)	MYO9B (L738F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3166994	NM_004145.4(MYO9B):c.2210A>G (p.Lys737Arg)	MYO9B (K737R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3166980	NM_004145.4(MYO9B):c.2010C>T (p.Tyr670=)	MYO9B	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3166970	NM_004145.4(MYO9B):c.139G>A (p.Val47Ile)	MYO9B (V47I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3166963	NM_004145.4(MYO9B):c.123C>G (p.Asp41Glu)	MYO9B (D41E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3166957	NM_004145.4(MYO9B):c.1210G>T (p.Val404Phe)	MYO9B (V404F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3166953	NM_004145.4(MYO9B):c.1210G>A (p.Val404Ile)	MYO9B (V404I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3166947	NM_004145.4(MYO9B):c.103C>T (p.Arg35Cys)	MYO9B (R35C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3065363	NM_004145.4(MYO9B):c.6016G>A (p.Glu2006Lys)	MYO9B (E2006K)	Single nucleotide variant (missense variant)	Celiac disease, susceptibility to, 4	GUncertain significance
Select item 3062393	GRCh37/hg19 19p13.13-13.11(chr19:13970692-18139376)x3	CYP4F8, DCAF15 +109 more	Copy number gain	not specified	GUncertain significance
Select item 3062387	GRCh37/hg19 19p13.11(chr19:16857649-17423590)x3	NR2F6, NWD1 +13 more	Copy number gain	not specified	GUncertain significance
Select item 3059054	NM_004145.4(MYO9B):c.5589G>A (p.Pro1863=)	MYO9B	Single nucleotide variant (synonymous variant)	MYO9B-related disorder	GBenign
Select item 3057127	NM_004145.4(MYO9B):c.44C>T (p.Ala15Val)	MYO9B (A15V)	Single nucleotide variant (missense variant)	MYO9B-related disorder	GLikely benign
Select item 3056992	NM_004145.4(MYO9B):c.2718G>A (p.Leu906=)	MYO9B	Single nucleotide variant (synonymous variant)	MYO9B-related disorder	GBenign
Select item 3056521	NM_004145.4(MYO9B):c.243C>T (p.Asn81=)	MYO9B	Single nucleotide variant (synonymous variant)	MYO9B-related disorder	GLikely benign
Select item 3055101	NM_004145.4(MYO9B):c.6124G>A (p.Ala2042Thr)	MYO9B (A2042T)	Single nucleotide variant (3 prime UTR variant +1 more)	MYO9B-related disorder	GLikely benign
Select item 3053760	NM_004145.4(MYO9B):c.1845T>C (p.His615=)	MYO9B	Single nucleotide variant (synonymous variant)	MYO9B-related disorder	GLikely benign
Select item 3053412	NM_004145.4(MYO9B):c.6097A>G (p.Thr2033Ala)	MYO9B (T2033A)	Single nucleotide variant (3 prime UTR variant +1 more)	MYO9B-related disorder	GLikely benign
Select item 3051749	NM_004145.4(MYO9B):c.4332C>T (p.His1444=)	MYO9B	Single nucleotide variant (synonymous variant)	MYO9B-related disorder	GLikely benign
Select item 3051665	NM_004145.4(MYO9B):c.2382G>A (p.Leu794=)	MYO9B	Single nucleotide variant (synonymous variant)	MYO9B-related disorder	GLikely benign
Select item 3050451	NM_004145.4(MYO9B):c.5247G>A (p.Ala1749=)	MYO9B	Single nucleotide variant (synonymous variant)	MYO9B-related disorder	GLikely benign
Select item 3049880	NM_004145.4(MYO9B):c.1908C>T (p.Phe636=)	MYO9B	Single nucleotide variant (synonymous variant)	MYO9B-related disorder	GBenign
Select item 3049854	NM_004145.4(MYO9B):c.6339G>A (p.Thr2113=)	MYO9B	Single nucleotide variant (3 prime UTR variant +1 more)	MYO9B-related disorder	GLikely benign
Select item 3049287	NM_004145.4(MYO9B):c.2292C>G (p.Leu764=)	MYO9B	Single nucleotide variant (synonymous variant)	MYO9B-related disorder	GLikely benign
Select item 3049209	NM_004145.4(MYO9B):c.3443G>A (p.Arg1148His)	MYO9B (R1148H)	Single nucleotide variant (missense variant)	MYO9B-related disorder	GLikely benign
Select item 3049195	NM_004145.4(MYO9B):c.5400G>A (p.Lys1800=)	MYO9B	Single nucleotide variant (synonymous variant)	MYO9B-related disorder	GLikely benign
Select item 3048979	NM_004145.4(MYO9B):c.5260C>G (p.Pro1754Ala)	MYO9B (P1754A)	Single nucleotide variant (missense variant)	MYO9B-related disorder	GLikely benign
Select item 3048969	NM_004145.4(MYO9B):c.2127C>T (p.Ala709=)	MYO9B	Single nucleotide variant (synonymous variant)	MYO9B-related disorder	GLikely benign
Select item 3048194	NM_004145.4(MYO9B):c.2751C>T (p.Ile917=)	MYO9B	Single nucleotide variant (synonymous variant)	MYO9B-related disorder	GBenign
Select item 3048095	NM_004145.4(MYO9B):c.5019C>T (p.Cys1673=)	MYO9B	Single nucleotide variant (synonymous variant)	MYO9B-related disorder	GLikely benign
Select item 3046425	NM_004145.4(MYO9B):c.4077C>T (p.Asp1359=)	MYO9B	Single nucleotide variant (synonymous variant)	MYO9B-related disorder	GLikely benign
Select item 3046353	NM_004145.4(MYO9B):c.5386+10A>G	MYO9B	Single nucleotide variant (intron variant)	MYO9B-related disorder	GLikely benign
Select item 3046179	NM_004145.4(MYO9B):c.2141-5G>A	MYO9B	Single nucleotide variant (intron variant)	MYO9B-related disorder	GLikely benign
Select item 3043873	NM_004145.4(MYO9B):c.5258-9A>C	MYO9B	Single nucleotide variant (intron variant)	MYO9B-related disorder	GBenign
Select item 3043729	NM_004145.4(MYO9B):c.5622C>T (p.Thr1874=)	MYO9B	Single nucleotide variant (synonymous variant)	MYO9B-related disorder	GLikely benign
Select item 3043424	NM_004145.4(MYO9B):c.2958C>T (p.Ile986=)	MYO9B	Single nucleotide variant (synonymous variant)	MYO9B-related disorder	GLikely benign
Select item 3042996	NM_004145.4(MYO9B):c.4217C>T (p.Pro1406Leu)	MYO9B (P1406L)	Single nucleotide variant (missense variant)	MYO9B-related disorder	GLikely benign
Select item 3042226	NM_004145.4(MYO9B):c.5901T>C (p.Ile1967=)	MYO9B	Single nucleotide variant (synonymous variant)	MYO9B-related disorder	GLikely benign
Select item 3042077	NM_004145.4(MYO9B):c.3838G>A (p.Gly1280Ser)	MYO9B (G1280S)	Single nucleotide variant (missense variant)	MYO9B-related disorder	GBenign
Select item 3040764	NM_004145.4(MYO9B):c.1287C>T (p.Val429=)	MYO9B	Single nucleotide variant (synonymous variant)	MYO9B-related disorder	GLikely benign
Select item 3038958	NM_004145.4(MYO9B):c.5190C>T (p.Thr1730=)	MYO9B	Single nucleotide variant (synonymous variant)	MYO9B-related disorder	GLikely benign
Select item 3038330	NM_004145.4(MYO9B):c.3371A>G (p.Glu1124Gly)	MYO9B (E1124G)	Single nucleotide variant (missense variant)	MYO9B-related disorder	GBenign
Select item 3037565	NM_004145.4(MYO9B):c.5286C>T (p.Phe1762=)	MYO9B	Single nucleotide variant (synonymous variant)	MYO9B-related disorder	GLikely benign
Select item 3037288	NM_004145.4(MYO9B):c.462C>T (p.Leu154=)	MYO9B	Single nucleotide variant (synonymous variant)	MYO9B-related disorder	GBenign
Select item 3036971	NM_004145.4(MYO9B):c.5955G>A (p.Pro1985=)	MYO9B	Single nucleotide variant (synonymous variant)	MYO9B-related disorder	GLikely benign
Select item 3033989	NM_004145.4(MYO9B):c.4662+6T>G	MYO9B	Single nucleotide variant (intron variant)	MYO9B-related disorder	GLikely benign
Select item 3033660	NM_004145.4(MYO9B):c.6284G>A (p.Arg2095Gln)	MYO9B (R2095Q)	Single nucleotide variant (3 prime UTR variant +1 more)	MYO9B-related disorder	GBenign
Select item 3033338	NM_004145.4(MYO9B):c.1420-4A>G	MYO9B	Single nucleotide variant (intron variant)	MYO9B-related disorder	GLikely benign
Select item 2684887	GRCh37/hg19 19p13.12-13.11(chr19:14888106-17360864)x3	ADGRE2, AKAP8 +55 more	Copy number gain	not provided	GUncertain significance
Select item 2649536	NM_004145.4(MYO9B):c.6456G>A (p.Ser2152=)	MYO9B	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign

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