"Ambry Genetics"[submitter] AND "LOC126862500"[gene] - ClinVar

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Items: 23

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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

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Items: 23