ClinVar for Gene (Select 4622) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3158092	NM_017533.2(MYH4):c.681C>G (p.Asn227Lys)	MYH4, MYHAS (N227K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3158073	NM_017533.2(MYH4):c.5807T>G (p.Ile1936Arg)	MYH4, MYHAS (I1936R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3158054	NM_017533.2(MYH4):c.5423C>T (p.Ala1808Val)	MYH4, MYHAS (A1808V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3158051	NM_017533.2(MYH4):c.5399G>A (p.Arg1800His)	MYH4, MYHAS (R1800H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3158046	NM_017533.2(MYH4):c.5357T>C (p.Met1786Thr)	MYH4, MYHAS (M1786T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3158043	NM_017533.2(MYH4):c.5258G>T (p.Arg1753Leu)	MYH4, MYHAS (R1753L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3158034	NM_017533.2(MYH4):c.5257C>A (p.Arg1753Ser)	MYH4, MYHAS (R1753S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3158029	NM_017533.2(MYH4):c.5159T>C (p.Leu1720Pro)	LOC126862495, MYH4 +1 more (L1720P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3158026	NM_017533.2(MYH4):c.5146C>T (p.Arg1716Cys)	LOC126862495, MYH4 +1 more (R1716C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3158020	NM_017533.2(MYH4):c.5053A>C (p.Met1685Leu)	LOC126862495, MYH4 +1 more (M1685L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3158017	NM_017533.2(MYH4):c.497T>C (p.Met166Thr)	MYH4, MYHAS (M166T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3158014	NM_017533.2(MYH4):c.493T>C (p.Phe165Leu)	MYH4, MYHAS (F165L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3157992	NM_017533.2(MYH4):c.4193C>T (p.Ala1398Val)	MYH4, MYHAS (A1398V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3157982	NM_017533.2(MYH4):c.4043G>A (p.Arg1348Gln)	LOC126862496, MYH4 +1 more (R1348Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3157976	NM_017533.2(MYH4):c.3944A>C (p.Gln1315Pro)	LOC126862496, MYH4 +1 more (Q1315P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3157972	NM_017533.2(MYH4):c.3934T>C (p.Phe1312Leu)	LOC126862496, MYH4 +1 more (F1312L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3157966	NM_017533.2(MYH4):c.3678T>G (p.Ser1226Arg)	MYH4, MYHAS (S1226R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3157925	NM_017533.2(MYH4):c.3313G>A (p.Ala1105Thr)	MYH4, MYHAS (A1105T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3157910	NM_017533.2(MYH4):c.3080C>T (p.Ala1027Val)	MYH4, MYHAS (A1027V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3157905	NM_017533.2(MYH4):c.3003G>C (p.Lys1001Asn)	MYH4, MYHAS (K1001N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3157901	NM_017533.2(MYH4):c.2924C>T (p.Thr975Ile)	MYH4, MYHAS (T975I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3157898	NM_017533.2(MYH4):c.2875G>A (p.Asp959Asn)	MYH4, MYHAS (D959N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3157883	NM_017533.2(MYH4):c.2701G>A (p.Ala901Thr)	MYH4, MYHAS (A901T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3157873	NM_017533.2(MYH4):c.2510A>T (p.Tyr837Phe)	MYH4, MYHAS (Y837F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3157866	NM_017533.2(MYH4):c.2369C>G (p.Thr790Arg)	MYH4, MYHAS (T790R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3157859	NM_017533.2(MYH4):c.2282A>T (p.Lys761Ile)	MYH4, MYHAS (K761I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3157856	NM_017533.2(MYH4):c.2258T>C (p.Ile753Thr)	MYH4, MYHAS (I753T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3157836	NM_017533.2(MYH4):c.200G>A (p.Gly67Glu)	MYH4, MYHAS (G67E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3157801	NM_017533.2(MYH4):c.1300A>G (p.Ile434Val)	MYH4, MYHAS (I434V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3157799	NM_017533.2(MYH4):c.1276G>A (p.Ala426Thr)	MYHAS, MYH4 (A426T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3157791	NM_017533.2(MYH4):c.1108A>G (p.Lys370Glu)	MYH4, MYHAS (K370E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063486	GRCh37/hg19 17p13.3-11.2(chr17:525-21510992)x3	ABR, ACADVL +329 more	Copy number gain	not specified	GPathogenic
Select item 2681420	NM_017533.2(MYH4):c.4152C>A (p.Ile1384=)	MYH4, MYHAS	Single nucleotide variant (synonymous variant)	EBV-positive nodal T- and NK-cell lymphoma	GLikely benign
Select item 2672714	GRCh37/hg19 17p13.1(chr17:10101525-10415863)x3	GAS7, MYH1 +3 more	Copy number gain	not provided	GUncertain significance
Select item 2647474	NM_017533.2(MYH4):c.2937G>T (p.Val979=)	MYH4, MYHAS	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2617622	NM_017533.2(MYH4):c.407A>T (p.Asn136Ile)	MYH4, MYHAS (N136I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2606951	NM_017533.2(MYH4):c.4328G>T (p.Cys1443Phe)	MYH4, MYHAS (C1443F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2598593	NM_017533.2(MYH4):c.1606A>G (p.Ile536Val)	MYH4, MYHAS (I536V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2595341	NM_017533.2(MYH4):c.5102G>A (p.Arg1701Lys)	LOC126862495, MYH4 +1 more (R1701K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2579287	GRCh38/hg38 17p13.3-12(chr17:165730-11404096)x3	LOC130060077, LOC130060078 +911 more	Copy number gain	Chromosome 17p13.3 duplication syndrome	GPathogenic
Select item 2566279	NM_017533.2(MYH4):c.551G>T (p.Gly184Val)	MYH4, MYHAS (G184V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2556175	NM_017533.2(MYH4):c.4797G>C (p.Glu1599Asp)	LOC126862495, MYH4 +1 more (E1599D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2552896	NM_017533.2(MYH4):c.4586A>T (p.Glu1529Val)	MYH4, MYHAS (E1529V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2540587	NM_017533.2(MYH4):c.3547G>A (p.Glu1183Lys)	MYH4, MYHAS (E1183K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2539396	NM_017533.2(MYH4):c.617A>G (p.Lys206Arg)	MYH4, MYHAS (K206R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2532936	NM_017533.2(MYH4):c.5810G>A (p.Ser1937Asn)	MYH4, MYHAS (S1937N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2524431	NM_017533.2(MYH4):c.3835G>A (p.Ala1279Thr)	LOC126862496, MYH4 +1 more (A1279T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2521416	NM_017533.2(MYH4):c.3494T>C (p.Ile1165Thr)	MYH4, MYHAS (I1165T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2520504	NM_017533.2(MYH4):c.4733G>A (p.Arg1578Gln)	MYH4, MYHAS (R1578Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2514324	NM_017533.2(MYH4):c.166G>A (p.Glu56Lys)	MYH4, MYHAS (E56K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2512877	NM_017533.2(MYH4):c.4991C>T (p.Ala1664Val)	LOC126862495, MYH4 +1 more (A1664V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2509722	NM_017533.2(MYH4):c.1492G>A (p.Val498Met)	MYH4, MYHAS (V498M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2508990	NM_017533.2(MYH4):c.3507G>C (p.Lys1169Asn)	MYH4, MYHAS (K1169N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2482106	NM_017533.2(MYH4):c.3959A>G (p.Lys1320Arg)	LOC126862496, MYH4 +1 more (K1320R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2480487	NM_017533.2(MYH4):c.3307G>C (p.Ala1103Pro)	MYH4, MYHAS (A1103P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2476841	NM_017533.2(MYH4):c.988G>A (p.Glu330Lys)	MYH4, MYHAS (E330K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2476513	NM_017533.2(MYH4):c.4458C>G (p.Phe1486Leu)	MYH4, MYHAS (F1486L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2474324	NM_017533.2(MYH4):c.752T>C (p.Ile251Thr)	MYH4, MYHAS (I251T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2472795	NM_017533.2(MYH4):c.2159C>A (p.Ala720Glu)	MYH4, MYHAS (A720E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2468844	NM_017533.2(MYH4):c.4963A>C (p.Lys1655Gln)	LOC126862495, MYH4 +1 more (K1655Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2468424	NM_017533.2(MYH4):c.3637A>G (p.Ser1213Gly)	MYH4, MYHAS (S1213G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2466307	NM_017533.2(MYH4):c.1075G>A (p.Val359Met)	MYH4, MYHAS (V359M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2459594	NM_017533.2(MYH4):c.3048G>A (p.Met1016Ile)	MYH4, MYHAS (M1016I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2410304	NM_017533.2(MYH4):c.1582G>A (p.Glu528Lys)	MYH4, MYHAS (E528K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2406762	NM_017533.2(MYH4):c.1806C>A (p.Asp602Glu)	MYH4, MYHAS (D602E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2402542	NM_017533.2(MYH4):c.1448T>G (p.Phe483Cys)	MYH4, MYHAS (F483C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2397748	NM_017533.2(MYH4):c.3370G>A (p.Glu1124Lys)	MYH4, MYHAS (E1124K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2383209	NM_017533.2(MYH4):c.4646A>C (p.Glu1549Ala)	MYH4, MYHAS (E1549A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2378528	NM_017533.2(MYH4):c.1698C>G (p.Phe566Leu)	MYH4, MYHAS (F566L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2372369	NM_017533.2(MYH4):c.5738G>A (p.Arg1913Gln)	MYH4, MYHAS (R1913Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2362177	NM_017533.2(MYH4):c.5092C>T (p.Arg1698Trp)	LOC126862495, MYH4 +1 more (R1698W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2357501	NM_017533.2(MYH4):c.4511G>A (p.Arg1504Gln)	MYH4, MYHAS (R1504Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2352805	NM_017533.2(MYH4):c.4334C>G (p.Ala1445Gly)	MYH4, MYHAS (A1445G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2349865	NM_017533.2(MYH4):c.715G>A (p.Val239Met)	MYH4, MYHAS (V239M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2349795	NM_017533.2(MYH4):c.2851T>A (p.Cys951Ser)	MYH4, MYHAS (C951S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2344020	NM_017533.2(MYH4):c.4921G>A (p.Ala1641Thr)	LOC126862495, MYH4 +1 more (A1641T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2342924	NM_017533.2(MYH4):c.616A>C (p.Lys206Gln)	MYH4, MYHAS (K206Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2338957	NM_017533.2(MYH4):c.2705T>C (p.Leu902Ser)	MYH4, MYHAS (L902S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2336488	NM_017533.2(MYH4):c.2314G>A (p.Gly772Ser)	MYH4, MYHAS (G772S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2331826	NM_017533.2(MYH4):c.4803G>A (p.Met1601Ile)	LOC126862495, MYH4 +1 more (M1601I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2327981	NM_017533.2(MYH4):c.419T>C (p.Val140Ala)	MYH4, MYHAS (V140A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2318966	NM_017533.2(MYH4):c.3659A>G (p.Lys1220Arg)	MYH4, MYHAS (K1220R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2316096	NM_017533.2(MYH4):c.412G>A (p.Glu138Lys)	MYH4, MYHAS (E138K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2310322	NM_017533.2(MYH4):c.2095T>C (p.Cys699Arg)	MYH4, MYHAS (C699R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2309992	NM_017533.2(MYH4):c.5701C>T (p.Arg1901Cys)	MYH4, MYHAS (R1901C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2309480	NM_017533.2(MYH4):c.274G>A (p.Ala92Thr)	MYH4, MYHAS (A92T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2306798	NM_017533.2(MYH4):c.5645A>C (p.Tyr1882Ser)	MYH4, MYHAS (Y1882S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2304440	NM_017533.2(MYH4):c.2383A>G (p.Ile795Val)	MYH4, MYHAS (I795V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2299617	NM_017533.2(MYH4):c.672C>G (p.Ile224Met)	MYH4, MYHAS (I224M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2298789	NM_017533.2(MYH4):c.4504C>G (p.Leu1502Val)	MYH4, MYHAS (L1502V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2295073	NM_017533.2(MYH4):c.1486A>T (p.Met496Leu)	MYH4, MYHAS (M496L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2294631	NM_017533.2(MYH4):c.3161G>A (p.Arg1054Lys)	MYH4, MYHAS (R1054K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2283855	NM_017533.2(MYH4):c.5257C>T (p.Arg1753Cys)	MYH4, MYHAS (R1753C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2282334	NM_017533.2(MYH4):c.3619C>T (p.Leu1207Phe)	MYH4, MYHAS (L1207F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2279922	NM_017533.2(MYH4):c.1402T>C (p.Phe468Leu)	MYH4, MYHAS (F468L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2279705	NM_017533.2(MYH4):c.5804T>C (p.Val1935Ala)	MYH4, MYHAS (V1935A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2279210	NM_017533.2(MYH4):c.1046A>T (p.Lys349Met)	MYH4, MYHAS (K349M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2276573	NM_017533.2(MYH4):c.5245G>T (p.Val1749Phe)	MYH4, MYHAS (V1749F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2274268	NM_017533.2(MYH4):c.5681A>T (p.Asn1894Ile)	MYH4, MYHAS (N1894I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2269557	NM_017533.2(MYH4):c.5773A>G (p.Arg1925Gly)	MYH4, MYHAS (R1925G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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