"Ambry Genetics"[submitter] AND "MYH2"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 321661	NM_017534.6(MYH2):c.5744G>A (p.Arg1915Gln)	MYH2, MYHAS (R1915Q)	Single nucleotide variant (missense variant)	Myopathy, proximal, and ophthalmoplegia +2 more	GUncertain significance
Select item 1419040	NM_017534.6(MYH2):c.5737G>A (p.Glu1913Lys)	MYH2, MYHAS (E1913K)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 2039360	NM_017534.6(MYH2):c.5579C>T (p.Thr1860Met)	MYH2, MYHAS (T1860M)	Single nucleotide variant (missense variant)	Myopathy, proximal, and ophthalmoplegia +2 more	GUncertain significance
Select item 1446748	NM_017534.6(MYH2):c.5539C>T (p.Arg1847Cys)	MYH2, MYHAS (R1847C)	Single nucleotide variant (missense variant)	Myopathy, proximal, and ophthalmoplegia +1 more	GUncertain significance
Select item 1399590	NM_017534.6(MYH2):c.5512C>T (p.Arg1838Cys)	MYH2, MYHAS (R1838C)	Single nucleotide variant (missense variant)	Myopathy, proximal, and ophthalmoplegia +1 more	GUncertain significance
Select item 1306856	NM_017534.6(MYH2):c.5476C>T (p.Arg1826Trp)	MYH2, MYHAS (R1826W)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1046548	NM_017534.6(MYH2):c.5405G>A (p.Arg1802His)	MYH2, MYHAS (R1802H)	Single nucleotide variant (missense variant)	Myopathy, proximal, and ophthalmoplegia +1 more	GUncertain significance
Select item 655364	NM_017534.6(MYH2):c.5404C>T (p.Arg1802Cys)	MYH2, MYHAS (R1802C)	Single nucleotide variant (missense variant)	Myopathy, proximal, and ophthalmoplegia +1 more	GUncertain significance
Select item 639702	NM_017534.6(MYH2):c.5378A>C (p.Glu1793Ala)	MYH2, MYHAS (E1793A)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 657329	NM_017534.6(MYH2):c.5347G>A (p.Ala1783Thr)	MYH2, MYHAS (A1783T)	Single nucleotide variant (missense variant)	Myopathy, proximal, and ophthalmoplegia +1 more	GUncertain significance
Select item 208780	NM_017534.6(MYH2):c.5282C>T (p.Ala1761Val)	MYH2, MYHAS (A1761V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 432880	NM_017534.6(MYH2):c.5263C>T (p.Arg1755Cys)	MYH2, MYHAS (R1755C)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 578750	NM_017534.6(MYH2):c.5171C>T (p.Thr1724Ile)	MYH2, MYHAS (T1724I)	Single nucleotide variant (missense variant)	Myopathy, proximal, and ophthalmoplegia +1 more	GUncertain significance
Select item 2155453	NM_017534.6(MYH2):c.5113A>G (p.Arg1705Gly)	LOC126862500, MYH2 +1 more (R1705G)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 938977	NM_017534.6(MYH2):c.5087C>A (p.Ala1696Asp)	LOC126862500, MYH2 +1 more (A1696D)	Single nucleotide variant (missense variant)	Myopathy, proximal, and ophthalmoplegia +1 more	GUncertain significance
Select item 2433891	NM_017534.6(MYH2):c.5084G>A (p.Arg1695Gln)	LOC126862500, MYH2 +1 more (R1695Q)	Single nucleotide variant (missense variant)	Myopathy, proximal, and ophthalmoplegia +1 more	GUncertain significance
Select item 2234105	NM_017534.6(MYH2):c.5073C>G (p.Ile1691Met)	LOC126862500, MYH2 +1 more (I1691M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2492610	NM_017534.6(MYH2):c.5066C>T (p.Ala1689Val)	LOC126862500, MYH2 +1 more (A1689V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 966188	NM_017534.6(MYH2):c.5045G>A (p.Arg1682His)	LOC126862500, MYH2 +1 more (R1682H)	Single nucleotide variant (missense variant)	Myopathy, proximal, and ophthalmoplegia +2 more	GUncertain significance
Select item 2040351	NM_017534.6(MYH2):c.4981A>C (p.Ile1661Leu)	LOC126862500, MYH2 +1 more (I1661L)	Single nucleotide variant (missense variant)	Myopathy, proximal, and ophthalmoplegia +1 more	GConflicting classifications of pathogenicity
Select item 2277390	NM_017534.6(MYH2):c.4930G>A (p.Glu1644Lys)	LOC126862500, MYH2 +1 more (E1644K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3157485	NM_017534.6(MYH2):c.4907A>C (p.Asn1636Thr)	LOC126862500, MYH2 +1 more (N1636T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2600217	NM_017534.6(MYH2):c.4871T>C (p.Met1624Thr)	LOC126862500, MYH2 +1 more (M1624T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 662985	NM_017534.6(MYH2):c.4817C>T (p.Thr1606Met)	LOC126862500, MYH2 +1 more (T1606M)	Single nucleotide variant (missense variant)	Myopathy, proximal, and ophthalmoplegia +1 more	GConflicting classifications of pathogenicity
Select item 3157482	NM_017534.6(MYH2):c.4812G>C (p.Gln1604His)	LOC126862500, MYH2 +1 more (Q1604H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2617793	NM_017534.6(MYH2):c.4804T>A (p.Ser1602Thr)	LOC126862500, MYH2 +1 more (S1602T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3157479	NM_017534.6(MYH2):c.4750G>A (p.Glu1584Lys)	LOC126862500, MYH2 +1 more (E1584K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2294285	NM_017534.6(MYH2):c.4748C>G (p.Ala1583Gly)	LOC126862500, MYH2 +1 more (A1583G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 321665	NM_017534.6(MYH2):c.4697G>A (p.Arg1566His)	LOC126862500, MYH2 +1 more (R1566H)	Single nucleotide variant (missense variant)	Myopathy, proximal, and ophthalmoplegia +3 more	GUncertain significance
Select item 534354	NM_017534.6(MYH2):c.4684G>A (p.Gly1562Arg)	LOC126862500, MYH2 +1 more (G1562R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2594201	NM_017534.6(MYH2):c.4570G>A (p.Glu1524Lys)	LOC126862500, MYH2 +1 more (E1524K)	Single nucleotide variant (missense variant)	Myopathy, proximal, and ophthalmoplegia +1 more	GUncertain significance
Select item 2154914	NM_017534.6(MYH2):c.4534C>G (p.Gln1512Glu)	LOC126862500, MYH2 +1 more (Q1512E)	Single nucleotide variant (missense variant)	Myopathy, proximal, and ophthalmoplegia +1 more	GUncertain significance
Select item 2308503	NM_017534.6(MYH2):c.4484A>T (p.Glu1495Val)	LOC126862500, MYH2 +1 more (E1495V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 641606	NM_017534.6(MYH2):c.4442G>A (p.Arg1481His)	LOC126862500, MYH2 +1 more (R1481H)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 863719	NM_017534.6(MYH2):c.4441C>T (p.Arg1481Cys)	LOC126862500, MYH2 +1 more (R1481C)	Single nucleotide variant (missense variant)	Myopathy, proximal, and ophthalmoplegia +1 more	GUncertain significance
Select item 2168656	NM_017534.6(MYH2):c.4431G>C (p.Gln1477His)	LOC126862500, MYH2 +1 more (Q1477H)	Single nucleotide variant (missense variant)	Myopathy, proximal, and ophthalmoplegia +1 more	GUncertain significance
Select item 3297436	NM_017534.6(MYH2):c.4321A>G (p.Thr1441Ala)	MYH2, MYHAS (T1441A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 705415	NM_017534.6(MYH2):c.4304T>C (p.Met1435Thr)	MYH2, MYHAS (M1435T)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 570146	NM_017534.6(MYH2):c.4294G>A (p.Glu1432Lys)	MYH2, MYHAS (E1432K)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2613837	NM_017534.6(MYH2):c.4244C>T (p.Ala1415Val)	MYH2, MYHAS (A1415V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3157466	NM_017534.6(MYH2):c.4219G>A (p.Glu1407Lys)	MYH2, MYHAS (E1407K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 659987	NM_017534.6(MYH2):c.4205G>A (p.Arg1402Gln)	MYH2, MYHAS (R1402Q)	Single nucleotide variant (missense variant)	Myopathy, proximal, and ophthalmoplegia +1 more	GUncertain significance
Select item 661767	NM_017534.6(MYH2):c.4162C>T (p.Arg1388Cys)	MYH2, MYHAS (R1388C)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1512396	NM_017534.6(MYH2):c.4117G>A (p.Glu1373Lys)	MYH2, MYHAS (E1373K)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 952497	NM_017534.6(MYH2):c.3889C>G (p.Leu1297Val)	MYH2, MYHAS (L1297V)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 639121	NM_017534.6(MYH2):c.3854G>A (p.Arg1285His)	MYH2, MYHAS (R1285H)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 534342	NM_017534.6(MYH2):c.3820C>T (p.Arg1274Trp)	MYH2, MYHAS (R1274W)	Single nucleotide variant (missense variant)	Myopathy, proximal, and ophthalmoplegia +2 more	GUncertain significance
Select item 3157437	NM_017534.6(MYH2):c.3803A>G (p.Lys1268Arg)	MYH2, MYHAS (K1268R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 321672	NM_017534.6(MYH2):c.3709C>T (p.Leu1237Phe)	MYH2, MYHAS (L1237F)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 1018984	NM_017534.6(MYH2):c.3701T>C (p.Ile1234Thr)	MYH2, MYHAS (I1234T)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 944662	NM_017534.6(MYH2):c.3683G>A (p.Ser1228Asn)	MYH2, MYHAS (S1228N)	Single nucleotide variant (missense variant)	Myopathy, proximal, and ophthalmoplegia +1 more	GUncertain significance
Select item 2903458	NM_017534.6(MYH2):c.3665A>G (p.Lys1222Arg)	MYH2, MYHAS (K1222R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1520472	NM_017534.6(MYH2):c.3574G>A (p.Glu1192Lys)	MYH2, MYHAS (E1192K)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 465937	NM_017534.6(MYH2):c.3572A>G (p.His1191Arg)	MYH2, MYHAS (H1191R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3157422	NM_017534.6(MYH2):c.3557A>C (p.Glu1186Ala)	MYH2, MYHAS (E1186A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1007153	NM_017534.6(MYH2):c.3539T>C (p.Met1180Thr)	MYH2, MYHAS (M1180T)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3157418	NM_017534.6(MYH2):c.3518G>T (p.Arg1173Leu)	MYH2, MYHAS (R1173L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 287312	NM_017534.6(MYH2):c.3518G>A (p.Arg1173Gln)	MYH2, MYHAS (R1173Q)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1928092	NM_017534.6(MYH2):c.3404G>A (p.Arg1135Gln)	MYH2, MYHAS (R1135Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 534348	NM_017534.6(MYH2):c.3353A>C (p.Gln1118Pro)	MYH2, MYHAS (Q1118P)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 853511	NM_017534.6(MYH2):c.3334A>G (p.Lys1112Glu)	MYH2, MYHAS (K1112E)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3297434	NM_017534.6(MYH2):c.3322A>G (p.Ile1108Val)	MYH2, MYHAS (I1108V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3157408	NM_017534.6(MYH2):c.3304G>T (p.Asp1102Tyr)	MYH2, MYHAS (D1102Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3157406	NM_017534.6(MYH2):c.3269A>C (p.Glu1090Ala)	MYH2, MYHAS (E1090A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1378079	NM_017534.6(MYH2):c.3250G>A (p.Glu1084Lys)	MYH2, MYHAS (E1084K)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 566322	NM_017534.6(MYH2):c.3097C>A (p.Leu1033Ile)	MYH2, MYHAS (L1033I)	Single nucleotide variant (missense variant)	Myopathy, proximal, and ophthalmoplegia +1 more	GConflicting classifications of pathogenicity
Select item 465932	NM_017534.6(MYH2):c.3067G>C (p.Val1023Leu)	MYH2, MYHAS (V1023L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 2234104	NM_017534.6(MYH2):c.3045C>A (p.Asp1015Glu)	MYH2, MYHAS (D1015E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2306600	NM_017534.6(MYH2):c.3040G>T (p.Asp1014Tyr)	MYH2, MYHAS (D1014Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3297438	NM_017534.6(MYH2):c.2879T>C (p.Ile960Thr)	MYH2, MYHAS (I960T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2151899	NM_017534.6(MYH2):c.2768C>G (p.Ala923Gly)	MYH2, MYHAS (A923G)	Single nucleotide variant (missense variant)	Myopathy, proximal, and ophthalmoplegia +1 more	GUncertain significance
Select item 2608432	NM_017534.6(MYH2):c.2716G>A (p.Asp906Asn)	MYH2, MYHAS (D906N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2195413	NM_017534.6(MYH2):c.2674G>A (p.Asp892Asn)	MYH2, MYHAS (D892N)	Single nucleotide variant (missense variant)	Myopathy, proximal, and ophthalmoplegia +1 more	GUncertain significance
Select item 321683	NM_017534.6(MYH2):c.2626A>G (p.Arg876Gly)	MYH2, MYHAS (R876G)	Single nucleotide variant (missense variant)	Myopathy, proximal, and ophthalmoplegia +3 more	GUncertain significance
Select item 195692	NM_017534.6(MYH2):c.2565G>A (p.Met855Ile)	MYH2, MYHAS (M855I)	Single nucleotide variant (missense variant)	Myopathy, proximal, and ophthalmoplegia +2 more	GUncertain significance
Select item 1014863	NM_017534.6(MYH2):c.2546C>T (p.Ala849Val)	MYH2, MYHAS (A849V)	Single nucleotide variant (missense variant)	Myopathy, proximal, and ophthalmoplegia +2 more	GUncertain significance
Select item 834689	NM_017534.6(MYH2):c.2391G>T (p.Arg797Ser)	MYH2, MYHAS (R797S)	Single nucleotide variant (missense variant)	Myopathy, proximal, and ophthalmoplegia +1 more	GUncertain significance
Select item 3157371	NM_017534.6(MYH2):c.2381C>T (p.Thr794Ile)	MYH2, MYHAS (T794I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 971552	NM_017534.6(MYH2):c.2332C>T (p.Leu778Phe)	MYH2, MYHAS (L778F)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2276803	NM_017534.6(MYH2):c.2306T>C (p.Val769Ala)	MYH2, MYHAS (V769A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1365193	NM_017534.6(MYH2):c.2303A>C (p.Lys768Thr)	MYH2, MYHAS (K768T)	Single nucleotide variant (missense variant)	Myopathy, proximal, and ophthalmoplegia +1 more	GUncertain significance
Select item 3157363	NM_017534.6(MYH2):c.2099G>A (p.Arg700Lys)	MYH2, MYHAS (R700K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2613836	NM_017534.6(MYH2):c.2078A>G (p.Glu693Gly)	MYH2, MYHAS (E693G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3297437	NM_017534.6(MYH2):c.2076T>A (p.His692Gln)	MYH2, MYHAS (H692Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 534353	NM_017534.6(MYH2):c.2020C>T (p.His674Tyr)	MYH2, MYHAS (H674Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1414131	NM_017534.6(MYH2):c.1901G>C (p.Gly634Ala)	MYH2, MYHAS (G634A)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 1372940	NM_017534.6(MYH2):c.1763T>C (p.Val588Ala)	MYH2, MYHAS (V588A)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1371198	NM_017534.6(MYH2):c.1729G>A (p.Glu577Lys)	MYH2, MYHAS (E577K)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 321688	NM_017534.6(MYH2):c.1711G>A (p.Val571Met)	MYHAS, MYH2 (V571M)	Single nucleotide variant (missense variant)	Myopathy, proximal, and ophthalmoplegia +2 more	GUncertain significance
Select item 2286385	NM_017534.6(MYH2):c.1709A>G (p.Lys570Arg)	MYH2, MYHAS (K570R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3157356	NM_017534.6(MYH2):c.1682G>A (p.Gly561Asp)	MYH2, MYHAS (G561D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2612318	NM_017534.6(MYH2):c.1667A>G (p.Tyr556Cys)	MYH2, MYHAS (Y556C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1936034	NM_017534.6(MYH2):c.1595G>A (p.Gly532Asp)	MYH2, MYHAS (G532D)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 661850	NM_017534.6(MYH2):c.1535C>T (p.Thr512Met)	MYH2, MYHAS (T512M)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1045025	NM_017534.6(MYH2):c.1493T>C (p.Val498Ala)	MYH2, MYHAS (V498A)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2468257	NM_017534.6(MYH2):c.1456G>C (p.Glu486Gln)	MYH2, MYHAS (E486Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2599342	NM_017534.6(MYH2):c.1274A>G (p.Asn425Ser)	MYH2, MYHAS (N425S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 837599	NM_017534.6(MYH2):c.1249G>A (p.Gly417Ser)	MYH2, MYHAS (G417S)	Single nucleotide variant (missense variant)	Myopathy, proximal, and ophthalmoplegia +1 more	GUncertain significance
Select item 837286	NM_017534.6(MYH2):c.1174A>G (p.Ser392Gly)	MYH2, MYHAS (S392G)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 846385	NM_017534.6(MYH2):c.1046A>G (p.Lys349Arg)	MYH2, MYHAS (K349R)	Single nucleotide variant (missense variant)	Myopathy, proximal, and ophthalmoplegia +1 more	GUncertain significance

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