Related gene-specific medical variations for Gene (Select 4622) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3400822	NM_017533.2(MYH4):c.2507T>C (p.Leu836Pro)	MYH4, MYHAS (L836P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3400821	NM_017533.2(MYH4):c.2357C>T (p.Ala786Val)	MYH4, MYHAS (A786V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3400820	NM_017533.2(MYH4):c.4198C>T (p.Arg1400Cys)	MYH4, MYHAS (R1400C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3400819	NM_017533.2(MYH4):c.3353G>T (p.Arg1118Leu)	MYH4, MYHAS (R1118L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3400818	NM_017533.2(MYH4):c.1579A>G (p.Ile527Val)	MYH4, MYHAS (I527V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3400816	NM_017533.2(MYH4):c.2069A>G (p.His690Arg)	MYH4, MYHAS (H690R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3400815	NM_017533.2(MYH4):c.2204C>G (p.Pro735Arg)	MYH4, MYHAS (P735R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3400814	NM_017533.2(MYH4):c.864A>G (p.Ile288Met)	MYH4, MYHAS (I288M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3400813	NM_017533.2(MYH4):c.3028A>C (p.Thr1010Pro)	MYH4, MYHAS (T1010P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3400812	NM_017533.2(MYH4):c.1625T>C (p.Met542Thr)	MYH4, MYHAS (M542T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3400811	NM_017533.2(MYH4):c.628C>T (p.Pro210Ser)	MYH4, MYHAS (P210S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3400810	NM_017533.2(MYH4):c.3769G>C (p.Glu1257Gln)	LOC126862496, MYH4 +1 more (E1257Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3400809	NM_017533.2(MYH4):c.1333C>T (p.Arg445Cys)	MYH4, MYHAS (R445C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3400808	NM_017533.2(MYH4):c.5552T>C (p.Val1851Ala)	MYH4, MYHAS (V1851A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3400807	NM_017533.2(MYH4):c.3946A>G (p.Ile1316Val)	LOC126862496, MYH4 +1 more (I1316V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3400805	NM_017533.2(MYH4):c.2024G>A (p.Arg675Gln)	MYH4, MYHAS (R675Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3400804	NM_017533.2(MYH4):c.2957T>A (p.Met986Lys)	MYH4, MYHAS (M986K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3400803	NM_017533.2(MYH4):c.5804T>A (p.Val1935Asp)	MYH4, MYHAS (V1935D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3400802	NM_017533.2(MYH4):c.4814T>A (p.Leu1605Gln)	LOC126862495, MYH4 +1 more (L1605Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3400801	NM_017533.2(MYH4):c.3535C>T (p.Arg1179Cys)	MYH4, MYHAS (R1179C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3400800	NM_017533.2(MYH4):c.3244G>A (p.Glu1082Lys)	MYH4, MYHAS (E1082K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3400799	NM_017533.2(MYH4):c.461A>G (p.His154Arg)	MYH4, MYHAS (H154R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3400798	NM_017533.2(MYH4):c.5123A>G (p.Gln1708Arg)	LOC126862495, MYH4 +1 more (Q1708R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3400797	NM_017533.2(MYH4):c.4589T>C (p.Leu1530Pro)	MYH4, MYHAS (L1530P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3400796	NM_017533.2(MYH4):c.3379G>C (p.Glu1127Gln)	MYH4, MYHAS (E1127Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3400794	NM_017533.2(MYH4):c.4955G>A (p.Gly1652Glu)	LOC126862495, MYH4 +1 more (G1652E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3400793	NM_017533.2(MYH4):c.1321T>C (p.Trp441Arg)	MYH4, MYHAS (W441R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3400792	NM_017533.2(MYH4):c.3962G>A (p.Arg1321Lys)	LOC126862496, MYH4 +1 more (R1321K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3400791	NM_017533.2(MYH4):c.182C>T (p.Thr61Ile)	MYH4, MYHAS (T61I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3400790	NM_017533.2(MYH4):c.3382G>A (p.Ala1128Thr)	MYH4, MYHAS (A1128T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3400789	NM_017533.2(MYH4):c.4142C>T (p.Thr1381Met)	MYH4, MYHAS (T1381M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3400788	NM_017533.2(MYH4):c.3776A>G (p.Gln1259Arg)	LOC126862496, MYH4 +1 more (Q1259R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3297464	NM_017533.2(MYH4):c.475T>C (p.Ser159Pro)	MYH4, MYHAS (S159P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3297463	NM_017533.2(MYH4):c.2947A>G (p.Thr983Ala)	MYH4, MYHAS (T983A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3297462	NM_017533.2(MYH4):c.2212C>A (p.Gln738Lys)	MYH4, MYHAS (Q738K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3297461	NM_017533.2(MYH4):c.4118C>A (p.Ala1373Asp)	MYH4, MYHAS (A1373D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3297460	NM_017533.2(MYH4):c.1991C>G (p.Thr664Ser)	MYH4, MYHAS (T664S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3297458	NM_017533.2(MYH4):c.1360C>A (p.Gln454Lys)	MYH4, MYHAS (Q454K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3297457	NM_017533.2(MYH4):c.2342G>A (p.Arg781Gln)	MYH4, MYHAS (R781Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3297456	NM_017533.2(MYH4):c.5534G>A (p.Arg1845His)	MYH4, MYHAS (R1845H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3297455	NM_017533.2(MYH4):c.1900G>A (p.Gly634Ser)	MYH4, MYHAS (G634S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3297454	NM_017533.2(MYH4):c.2120G>A (p.Arg707His)	MYH4, MYHAS (R707H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3297453	NM_017533.2(MYH4):c.4690C>T (p.Arg1564Cys)	MYH4, MYHAS (R1564C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3297452	NM_017533.2(MYH4):c.3229A>C (p.Lys1077Gln)	MYH4, MYHAS (K1077Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3297451	NM_017533.2(MYH4):c.2467C>T (p.Arg823Cys)	MYH4, MYHAS (R823C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3297450	NM_017533.2(MYH4):c.2615C>A (p.Ala872Glu)	MYH4, MYHAS (A872E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3297448	NM_017533.2(MYH4):c.2371C>T (p.Arg791Cys)	MYH4, MYHAS (R791C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3297447	NM_017533.2(MYH4):c.985C>G (p.Gln329Glu)	MYH4, MYHAS (Q329E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 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 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 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

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