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

Links from Gene

Items: 100

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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)	Inborn genetic diseases	GUncertain significance
Select item 2606951	NM_017533.2(MYH4):c.4328G>T (p.Cys1443Phe)	MYH4, MYHAS (C1443F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2598593	NM_017533.2(MYH4):c.1606A>G (p.Ile536Val)	MYH4, MYHAS (I536V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2595341	NM_017533.2(MYH4):c.5102G>A (p.Arg1701Lys)	LOC126862495, MYH4 +1 more (R1701K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2566279	NM_017533.2(MYH4):c.551G>T (p.Gly184Val)	MYH4, MYHAS (G184V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2556175	NM_017533.2(MYH4):c.4797G>C (p.Glu1599Asp)	LOC126862495, MYH4 +1 more (E1599D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2552896	NM_017533.2(MYH4):c.4586A>T (p.Glu1529Val)	MYH4, MYHAS (E1529V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2540587	NM_017533.2(MYH4):c.3547G>A (p.Glu1183Lys)	MYH4, MYHAS (E1183K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2539396	NM_017533.2(MYH4):c.617A>G (p.Lys206Arg)	MYH4, MYHAS (K206R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2532936	NM_017533.2(MYH4):c.5810G>A (p.Ser1937Asn)	MYH4, MYHAS (S1937N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2524431	NM_017533.2(MYH4):c.3835G>A (p.Ala1279Thr)	LOC126862496, MYH4 +1 more (A1279T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2521416	NM_017533.2(MYH4):c.3494T>C (p.Ile1165Thr)	MYH4, MYHAS (I1165T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2520504	NM_017533.2(MYH4):c.4733G>A (p.Arg1578Gln)	MYH4, MYHAS (R1578Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2514324	NM_017533.2(MYH4):c.166G>A (p.Glu56Lys)	MYH4, MYHAS (E56K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2512877	NM_017533.2(MYH4):c.4991C>T (p.Ala1664Val)	LOC126862495, MYH4 +1 more (A1664V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2509722	NM_017533.2(MYH4):c.1492G>A (p.Val498Met)	MYH4, MYHAS (V498M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2508990	NM_017533.2(MYH4):c.3507G>C (p.Lys1169Asn)	MYH4, MYHAS (K1169N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2482106	NM_017533.2(MYH4):c.3959A>G (p.Lys1320Arg)	LOC126862496, MYH4 +1 more (K1320R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2480487	NM_017533.2(MYH4):c.3307G>C (p.Ala1103Pro)	MYH4, MYHAS (A1103P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2476841	NM_017533.2(MYH4):c.988G>A (p.Glu330Lys)	MYH4, MYHAS (E330K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2476513	NM_017533.2(MYH4):c.4458C>G (p.Phe1486Leu)	MYH4, MYHAS (F1486L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2474324	NM_017533.2(MYH4):c.752T>C (p.Ile251Thr)	MYH4, MYHAS (I251T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2472795	NM_017533.2(MYH4):c.2159C>A (p.Ala720Glu)	MYH4, MYHAS (A720E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2468844	NM_017533.2(MYH4):c.4963A>C (p.Lys1655Gln)	LOC126862495, MYH4 +1 more (K1655Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2468424	NM_017533.2(MYH4):c.3637A>G (p.Ser1213Gly)	MYH4, MYHAS (S1213G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2466307	NM_017533.2(MYH4):c.1075G>A (p.Val359Met)	MYH4, MYHAS (V359M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2459594	NM_017533.2(MYH4):c.3048G>A (p.Met1016Ile)	MYH4, MYHAS (M1016I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2410304	NM_017533.2(MYH4):c.1582G>A (p.Glu528Lys)	MYHAS, MYH4 (E528K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2406762	NM_017533.2(MYH4):c.1806C>A (p.Asp602Glu)	MYHAS, MYH4 (D602E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2402542	NM_017533.2(MYH4):c.1448T>G (p.Phe483Cys)	MYHAS, MYH4 (F483C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2397748	NM_017533.2(MYH4):c.3370G>A (p.Glu1124Lys)	MYHAS, MYH4 (E1124K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2383209	NM_017533.2(MYH4):c.4646A>C (p.Glu1549Ala)	MYHAS, MYH4 (E1549A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2378528	NM_017533.2(MYH4):c.1698C>G (p.Phe566Leu)	MYH4, MYHAS (F566L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2372369	NM_017533.2(MYH4):c.5738G>A (p.Arg1913Gln)	MYHAS, MYH4 (R1913Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2362177	NM_017533.2(MYH4):c.5092C>T (p.Arg1698Trp)	LOC126862495, MYH4 +1 more (R1698W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2357501	NM_017533.2(MYH4):c.4511G>A (p.Arg1504Gln)	MYH4, MYHAS (R1504Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2352805	NM_017533.2(MYH4):c.4334C>G (p.Ala1445Gly)	MYH4, MYHAS (A1445G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2349865	NM_017533.2(MYH4):c.715G>A (p.Val239Met)	MYH4, MYHAS (V239M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2349795	NM_017533.2(MYH4):c.2851T>A (p.Cys951Ser)	MYH4, MYHAS (C951S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2344020	NM_017533.2(MYH4):c.4921G>A (p.Ala1641Thr)	LOC126862495, MYH4 +1 more (A1641T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2342924	NM_017533.2(MYH4):c.616A>C (p.Lys206Gln)	MYH4, MYHAS (K206Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2338957	NM_017533.2(MYH4):c.2705T>C (p.Leu902Ser)	MYHAS, MYH4 (L902S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2336488	NM_017533.2(MYH4):c.2314G>A (p.Gly772Ser)	MYHAS, MYH4 (G772S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2331826	NM_017533.2(MYH4):c.4803G>A (p.Met1601Ile)	LOC126862495, MYH4 +1 more (M1601I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2327981	NM_017533.2(MYH4):c.419T>C (p.Val140Ala)	MYHAS, MYH4 (V140A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2318966	NM_017533.2(MYH4):c.3659A>G (p.Lys1220Arg)	MYH4, MYHAS (K1220R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2316096	NM_017533.2(MYH4):c.412G>A (p.Glu138Lys)	MYH4, MYHAS (E138K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2310322	NM_017533.2(MYH4):c.2095T>C (p.Cys699Arg)	MYHAS, MYH4 (C699R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2309992	NM_017533.2(MYH4):c.5701C>T (p.Arg1901Cys)	MYH4, MYHAS (R1901C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2309480	NM_017533.2(MYH4):c.274G>A (p.Ala92Thr)	MYH4, MYHAS (A92T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2306798	NM_017533.2(MYH4):c.5645A>C (p.Tyr1882Ser)	MYH4, MYHAS (Y1882S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2304440	NM_017533.2(MYH4):c.2383A>G (p.Ile795Val)	MYH4, MYHAS (I795V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2299617	NM_017533.2(MYH4):c.672C>G (p.Ile224Met)	MYH4, MYHAS (I224M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2298789	NM_017533.2(MYH4):c.4504C>G (p.Leu1502Val)	MYH4, MYHAS (L1502V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2295073	NM_017533.2(MYH4):c.1486A>T (p.Met496Leu)	MYHAS, MYH4 (M496L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2294631	NM_017533.2(MYH4):c.3161G>A (p.Arg1054Lys)	MYHAS, MYH4 (R1054K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2283855	NM_017533.2(MYH4):c.5257C>T (p.Arg1753Cys)	MYH4, MYHAS (R1753C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2282334	NM_017533.2(MYH4):c.3619C>T (p.Leu1207Phe)	MYH4, MYHAS (L1207F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2279922	NM_017533.2(MYH4):c.1402T>C (p.Phe468Leu)	MYHAS, MYH4 (F468L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2279705	NM_017533.2(MYH4):c.5804T>C (p.Val1935Ala)	MYH4, MYHAS (V1935A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2279210	NM_017533.2(MYH4):c.1046A>T (p.Lys349Met)	MYH4, MYHAS (K349M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2276573	NM_017533.2(MYH4):c.5245G>T (p.Val1749Phe)	MYH4, MYHAS (V1749F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2274268	NM_017533.2(MYH4):c.5681A>T (p.Asn1894Ile)	MYHAS, MYH4 (N1894I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2269557	NM_017533.2(MYH4):c.5773A>G (p.Arg1925Gly)	MYH4, MYHAS (R1925G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2268757	NM_017533.2(MYH4):c.3134A>C (p.Glu1045Ala)	MYHAS, MYH4 (E1045A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2264806	NM_017533.2(MYH4):c.2051C>T (p.Thr684Ile)	MYHAS, MYH4 (T684I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2264360	NM_017533.2(MYH4):c.3512G>C (p.Arg1171Pro)	MYH4, MYHAS (R1171P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2261445	NM_017533.2(MYH4):c.2535G>T (p.Lys845Asn)	MYH4, MYHAS (K845N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2259255	NM_017533.2(MYH4):c.3418C>T (p.Arg1140Cys)	MYHAS, MYH4 (R1140C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2256583	NM_017533.2(MYH4):c.2134G>A (p.Gly712Ser)	MYHAS, MYH4 (G712S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2252488	NM_017533.2(MYH4):c.5600G>A (p.Arg1867Lys)	MYHAS, MYH4 (R1867K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2250765	NM_017533.2(MYH4):c.2999A>C (p.Lys1000Thr)	MYH4, MYHAS (K1000T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2247471	NM_017533.2(MYH4):c.2208G>T (p.Glu736Asp)	MYH4, MYHAS (E736D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2247199	NM_017533.2(MYH4):c.4764T>A (p.Asp1588Glu)	LOC126862495, MYH4 +1 more (D1588E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2246764	NM_017533.2(MYH4):c.2716G>A (p.Glu906Lys)	MYH4, MYHAS (E906K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2245965	NM_017533.2(MYH4):c.1193T>C (p.Leu398Pro)	MYH4, MYHAS (L398P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2244537	NM_017533.2(MYH4):c.662A>G (p.Asp221Gly)	MYHAS, MYH4 (D221G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2238582	NM_017533.2(MYH4):c.3600C>A (p.His1200Gln)	MYHAS, MYH4 (H1200Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2233792	NM_017533.2(MYH4):c.3583G>C (p.Ala1195Pro)	MYH4, MYHAS (A1195P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2230229	NM_017533.2(MYH4):c.1142C>T (p.Thr381Met)	MYH4, MYHAS (T381M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2223884	NM_017533.2(MYH4):c.4573A>G (p.Lys1525Glu)	MYHAS, MYH4 (K1525E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2223535	NM_017533.2(MYH4):c.4550C>A (p.Thr1517Lys)	MYH4, MYHAS (T1517K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2223193	NM_017533.2(MYH4):c.3398G>A (p.Arg1133Gln)	MYH4, MYHAS (R1133Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2218256	NM_017533.2(MYH4):c.3472G>A (p.Gly1158Ser)	MYHAS, MYH4 (G1158S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2217319	NM_017533.2(MYH4):c.3575C>T (p.Thr1192Met)	MYH4, MYHAS (T1192M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2216178	NM_017533.2(MYH4):c.2699A>G (p.Asp900Gly)	MYH4, MYHAS (D900G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2214723	NM_017533.2(MYH4):c.3434G>A (p.Arg1145Gln)	MYHAS, MYH4 (R1145Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2208957	NM_017533.2(MYH4):c.398C>T (p.Pro133Leu)	MYHAS, MYH4 (P133L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1274214	NM_017533.2(MYH4):c.1275T>C (p.Asn425=)	MYH4, MYHAS	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1225242	NM_017533.2(MYH4):c.5405A>G (p.Asp1802Gly)	MYH4, MYHAS (D1802G)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 790715	NM_017533.2(MYH4):c.2922C>T (p.Ala974=)	MYH4, MYHAS	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 781347	NM_017533.2(MYH4):c.4161A>G (p.Thr1387=)	MYH4, MYHAS	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 781257	NM_017533.2(MYH4):c.4808G>A (p.Ser1603Asn)	LOC126862495, MYH4 +1 more (S1603N)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 773066	NM_017533.2(MYH4):c.3781A>C (p.Ser1261Arg)	LOC126862496, MYH4 +1 more (S1261R)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 768832	NM_017533.2(MYH4):c.2203C>A (p.Pro735Thr)	MYHAS, MYH4 (P735T)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 724790	NM_017533.2(MYH4):c.5384A>C (p.Lys1795Thr)	MYH4, MYHAS (K1795T)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 724160	NM_017533.2(MYH4):c.3931G>A (p.Ala1311Thr)	MYHAS, LOC126862496 +1 more (A1311T)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 91994	NM_017533.2(MYH4):c.4849A>G (p.Arg1617Gly)	LOC126862495, MYH4 +1 more (R1617G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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Items: 100