MYH7B[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146596	GRCh38/hg38 20p13-q13.33(chr20:99557-64277321)x3	JPH2, KAT14 +2522 more	Copy number gain	See cases	GPathogenic
Select item 59195	GRCh38/hg38 20p12.2-q12(chr20:9811433-39316956)x3	LOC613266, MACROD2 +950 more	Copy number gain	See cases	GPathogenic
Select item 153447	GRCh38/hg38 20q11.21-11.23(chr20:32062768-35906606)x3	ACSS2, ACTL10 +254 more	Copy number gain	See cases	GPathogenic
Select item 146117	GRCh38/hg38 20q11.21-11.23(chr20:33432363-36821881)x1	AAR2, ACSS2 +214 more	Copy number loss	See cases	GPathogenic
Select item 2091437	NM_020884.7(MYH7B):c.-122+14C>T	MYH7B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2541842	NM_020884.7(MYH7B):c.-119G>T	MYH7B	Single nucleotide variant (5 prime UTR variant)	not specified	GUncertain significance
Select item 2609602	NM_020884.7(MYH7B):c.-99G>T	MYH7B	Single nucleotide variant (5 prime UTR variant)	not specified	GUncertain significance
Select item 2914560	NM_020884.7(MYH7B):c.-95C>T	MYH7B	Single nucleotide variant (5 prime UTR variant)	not provided	GUncertain significance
Select item 2183935	NM_020884.7(MYH7B):c.-93T>A	MYH7B	Single nucleotide variant (5 prime UTR variant)	not provided	GUncertain significance
Select item 737406	NM_020884.7(MYH7B):c.-90C>T	MYH7B	Single nucleotide variant (5 prime UTR variant)	not provided	GLikely benign
Select item 2077751	NM_020884.7(MYH7B):c.-84C>T	MYH7B	Single nucleotide variant (5 prime UTR variant)	not provided	GUncertain significance
Select item 1662428	NM_020884.7(MYH7B):c.-76C>G	MYH7B	Single nucleotide variant (5 prime UTR variant)	not provided	GLikely benign
Select item 1543896	NM_020884.7(MYH7B):c.-76C>T	MYH7B	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 2962775	NM_020884.7(MYH7B):c.-73+14G>A	MYH7B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2965228	NM_020884.7(MYH7B):c.-71G>A	MYH7B	Single nucleotide variant (5 prime UTR variant)	not provided	GUncertain significance
Select item 1570582	NM_020884.7(MYH7B):c.-54G>A	MYH7B	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 3297540	NM_020884.7(MYH7B):c.-46C>A	MYH7B	Single nucleotide variant (5 prime UTR variant)	not specified	GUncertain significance
Select item 2059297	NM_020884.7(MYH7B):c.-15C>T	MYH7B	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GUncertain significance
Select item 1906264	NM_020884.7(MYH7B):c.9T>A (p.Asp3Glu)	MYH7B (D3E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1388750	NM_020884.7(MYH7B):c.65C>T (p.Thr22Met)	MYH7B (T22M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1554487	NM_020884.7(MYH7B):c.66G>A (p.Thr22=)	MYH7B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1908054	NM_020884.7(MYH7B):c.78T>C (p.Thr26=)	MYH7B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 777541	NM_020884.7(MYH7B):c.82C>A (p.Pro28Thr)	MYH7B (P28T)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2652268	NM_020884.7(MYH7B):c.84A>C (p.Pro28=)	MYH7B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2966780	NM_020884.7(MYH7B):c.87G>A (p.Trp29Ter)	MYH7B (W29*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 1528264	NM_020884.7(MYH7B):c.90C>T (p.Asp30=)	MYH7B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2991075	NM_020884.7(MYH7B):c.91+15_91+16del	MYH7B	Microsatellite (intron variant)	not provided	GLikely benign
Select item 2421017	NM_020884.7(MYH7B):c.100C>T (p.Arg34Ter)	MYH7B (R34*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2414254	NM_020884.7(MYH7B):c.118G>A (p.Glu40Lys)	MYH7B (E40K)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2971231	NM_020884.7(MYH7B):c.121C>G (p.Gln41Glu)	MYH7B (Q41E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1933609	NM_020884.7(MYH7B):c.127G>A (p.Ala43Thr)	MYH7B (A43T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2186470	NM_020884.7(MYH7B):c.130dup (p.Tyr44fs)	MYH7B (Y44fs)	Duplication (frameshift variant)	not provided	GUncertain significance
Select item 3021049	NM_020884.7(MYH7B):c.132C>T (p.Tyr44=)	MYH7B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2909535	NM_020884.7(MYH7B):c.140C>G (p.Ala47Gly)	MYH7B (A47G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2714731	NM_020884.7(MYH7B):c.140C>T (p.Ala47Val)	MYH7B (A47V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2166419	NM_020884.7(MYH7B):c.162C>T (p.Thr54=)	MYH7B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2713337	NM_020884.7(MYH7B):c.176C>T (p.Thr59Ile)	MYH7B (T59I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2484336	NM_020884.7(MYH7B):c.184A>G (p.Thr62Ala)	MYH7B (T62A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2389014	NM_020884.7(MYH7B):c.196A>G (p.Lys66Glu)	MYH7B (K66E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1537189	NM_020884.7(MYH7B):c.198G>T (p.Lys66Asn)	MYH7B (K66N)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2174287	NM_020884.7(MYH7B):c.198+1G>A	MYH7B	Single nucleotide variant (splice donor variant)	not provided	GUncertain significance
Select item 1357391	NM_020884.7(MYH7B):c.198+1G>T	MYH7B	Single nucleotide variant (splice donor variant)	not provided	GUncertain significance
Select item 1628185	NM_020884.7(MYH7B):c.199G>A (p.Val67Met)	MYH7B (V67M)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2124273	NM_020884.7(MYH7B):c.204G>A (p.Leu68=)	MYH7B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3022386	NM_020884.7(MYH7B):c.216A>G (p.Glu72=)	MYH7B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1486716	NM_020884.7(MYH7B):c.235A>G (p.Asn79Asp)	MYH7B (N79D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2897274	NM_020884.7(MYH7B):c.240G>A (p.Pro80=)	MYH7B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 546896	NM_020884.7(MYH7B):c.266T>C (p.Met89Thr)	MYH7B (M89T)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 725553	NM_020884.7(MYH7B):c.310C>T (p.Leu104=)	MYH7B	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 3158543	NM_020884.7(MYH7B):c.323A>T (p.Tyr108Phe)	MYH7B (Y108F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1379604	NM_020884.7(MYH7B):c.329G>T (p.Arg110Leu)	MYH7B (R110L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2976857	NM_020884.7(MYH7B):c.342+15C>G	MYH7B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3000896	NM_020884.7(MYH7B):c.343-15A>G	MYH7B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2790238	NM_020884.7(MYH7B):c.343-6C>T	MYH7B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2551119	NM_020884.7(MYH7B):c.355C>G (p.Leu119Val)	MYH7B (L119V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1606810	NM_020884.7(MYH7B):c.369C>T (p.Thr123=)	MYH7B	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3158609	NM_020884.7(MYH7B):c.409G>A (p.Val137Ile)	MYH7B (V137I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3297534	NM_020884.7(MYH7B):c.416C>T (p.Ala139Val)	MYH7B (A139V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1599909	NM_020884.7(MYH7B):c.417T>C (p.Ala139=)	MYH7B	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2985325	NM_020884.7(MYH7B):c.435C>T (p.Arg145=)	MYH7B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2755190	NM_020884.7(MYH7B):c.448C>G (p.Pro150Ala)	MYH7B (P150A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2333238	NM_020884.7(MYH7B):c.470C>T (p.Ala157Val)	MYH7B (A157V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2200647	NM_020884.7(MYH7B):c.496C>T (p.Arg166Cys)	MYH7B (R166C)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2158185	NM_020884.7(MYH7B):c.499+10G>T	MYH7B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2149779	NM_020884.7(MYH7B):c.502C>T (p.Arg168Ter)	MYH7B (R168*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2538151	NM_020884.7(MYH7B):c.511C>A (p.Gln171Lys)	MYH7B (Q171K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2235070	NM_020884.7(MYH7B):c.514T>C (p.Ser172Pro)	MYH7B (S172P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2179003	NM_020884.7(MYH7B):c.522G>A (p.Leu174=)	MYH7B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2985555	NM_020884.7(MYH7B):c.527+11G>A	MYH7B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1988643	NM_020884.7(MYH7B):c.527+18G>C	MYH7B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1651418	NM_020884.7(MYH7B):c.528-20T>G	MYH7B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1947935	NM_020884.7(MYH7B):c.536C>T (p.Ser179Leu)	MYH7B (S179L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 735246	NM_020884.7(MYH7B):c.543C>T (p.Ala181=)	MYH7B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 736655	NM_020884.7(MYH7B):c.552G>A (p.Thr184=)	MYH7B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1385403	NM_020884.7(MYH7B):c.566G>A (p.Arg189Gln)	MYH7B (R189Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3158684	NM_020884.7(MYH7B):c.584C>T (p.Ala195Val)	MYH7B (A195V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1643833	NM_020884.7(MYH7B):c.588C>T (p.Ile196=)	MYH7B	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 1916578	NM_020884.7(MYH7B):c.589G>A (p.Val197Ile)	MYH7B (V197I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2896763	NM_020884.7(MYH7B):c.590T>C (p.Val197Ala)	MYH7B (V197A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2983876	NM_020884.7(MYH7B):c.592G>A (p.Ala198Thr)	MYH7B (A198T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 638682	NM_020884.7(MYH7B):c.611_615dup (p.Lys206fs)	MYH7B (K206fs)	Microsatellite (frameshift variant)	Hypertrophic cardiomyopathy 1	GPathogenic
Select item 2958511	NM_020884.7(MYH7B):c.606C>T (p.Asp202=)	MYH7B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2158124	NM_020884.7(MYH7B):c.607G>A (p.Gly203Arg)	MYH7B (G203R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 782928	NM_020884.7(MYH7B):c.611C>T (p.Pro204Leu)	MYH7B (P204L)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2051508	NM_020884.7(MYH7B):c.615C>T (p.Gly205=)	MYH7B	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2995819	NM_020884.7(MYH7B):c.620A>G (p.Lys207Arg)	MYH7B (K207R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2299985	NM_020884.7(MYH7B):c.623C>T (p.Ala208Val)	MYH7B (A208V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 638683	NM_020884.7(MYH7B):c.624+1G>A	MYH7B	Single nucleotide variant (splice donor variant)	Hypertrophic cardiomyopathy 1	GPathogenic
Select item 2979202	NM_020884.7(MYH7B):c.625-17C>T	MYH7B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2066952	NM_020884.7(MYH7B):c.644C>T (p.Thr215Met)	MYH7B (T215M)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1463451	NM_020884.7(MYH7B):c.645G>A (p.Thr215=)	MYH7B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1566776	NM_020884.7(MYH7B):c.649-11dup	MYH7B	Duplication (intron variant)	not provided	GBenign
Select item 778605	NM_020884.7(MYH7B):c.649-10A>C	MYH7B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1589993	NM_020884.7(MYH7B):c.649-8C>T	MYH7B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 735750	NM_020884.7(MYH7B):c.649-7G>A	MYH7B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1984166	NM_020884.7(MYH7B):c.662A>G (p.Asp221Gly)	MYH7B (D221G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3297547	NM_020884.7(MYH7B):c.673G>A (p.Glu225Lys)	MYH7B (E225K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 596748	NM_020884.7(MYH7B):c.680A>G (p.Asn227Ser)	MYH7B (N227S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1478792	NM_020884.7(MYH7B):c.701G>C (p.Gly234Ala)	MYH7B (G234A)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1351502	NM_020884.7(MYH7B):c.706G>A (p.Ala236Thr)	MYH7B (A236T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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