"GeneDx"[submitter] AND "LOC126862500"[gene] - ClinVar - NCBI

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Items: 17

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 429835	NM_017534.6(MYH2):c.5090C>T (p.Thr1697Ile)	LOC126862500, MYH2 +1 more (T1697I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1061072	NM_017534.6(MYH2):c.5041G>A (p.Glu1681Lys)	LOC126862500, MYH2 +1 more (E1681K)	Single nucleotide variant (missense variant)	Myopathy, proximal, and ophthalmoplegia +2 more	GUncertain significance
Select item 260826	NM_017534.6(MYH2):c.5034C>T (p.Ala1678=)	LOC126862500, MYH2 +1 more	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 499174	NM_017534.6(MYH2):c.5003G>A (p.Arg1668Gln)	LOC126862500, MYH2 +1 more (R1668Q)	Single nucleotide variant (missense variant)	Myopathy, proximal, and ophthalmoplegia +1 more	GUncertain significance
Select item 284838	NM_017534.6(MYH2):c.4989G>A (p.Leu1663=)	LOC126862500, MYH2 +1 more	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 1303347	NM_017534.6(MYH2):c.4885A>G (p.Asn1629Asp)	LOC126862500, MYH2 +1 more (N1629D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3375622	NM_017534.6(MYH2):c.4873G>A (p.Glu1625Lys)	LOC126862500, MYH2 +1 more (E1625K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 281669	NM_017534.6(MYH2):c.4860C>G (p.Leu1620=)	LOC126862500, MYH2 +1 more	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 260825	NM_017534.6(MYH2):c.4774C>A (p.Leu1592Met)	LOC126862500, MYH2 +1 more (L1592M)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
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 1315407	NM_017534.6(MYH2):c.4655A>C (p.Glu1552Ala)	LOC126862500, MYH2 +1 more (E1552A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 465942	NM_017534.6(MYH2):c.4583G>A (p.Arg1528His)	LOC126862500, MYH2 +1 more (R1528H)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 429841	NM_017534.6(MYH2):c.4537+5G>C	LOC126862500, MYH2 +1 more	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1029470	NM_017534.6(MYH2):c.4537+1G>A	LOC126862500, MYH2 +1 more	Single nucleotide variant (splice donor variant)	Myopathy, proximal, and ophthalmoplegia +1 more	GPathogenic/Likely pathogenic
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 1307363	NM_017534.6(MYH2):c.4424C>A (p.Ala1475Asp)	LOC126862500, MYH2 +1 more (A1475D)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 283217	NM_017534.6(MYH2):c.4379C>G (p.Ala1460Gly)	MYH2, MYHAS +1 more (A1460G)	Single nucleotide variant (missense variant)	Myopathy, proximal, and ophthalmoplegia +2 more	GLikely benign