"Eurofins Ntd Llc (ga)"[submitter] AND "MYH2"[gene] - ClinVar

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Items: 31

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 287307	NM_017534.6(MYH2):c.5820A>G (p.Glu1940=)	MYH2, MYHAS	Single nucleotide variant (synonymous variant)	Myopathy, proximal, and ophthalmoplegia +1 more	GConflicting classifications of pathogenicity
Select item 197420	NM_017534.6(MYH2):c.5780G>A (p.Arg1927Gln)	MYH2, MYHAS (R1927Q)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 499814	NM_017534.6(MYH2):c.5580G>A (p.Thr1860=)	MYH2, MYHAS	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
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 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 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
Select item 465941	NM_017534.6(MYH2):c.4329C>T (p.Ala1443=)	MYHAS, MYH2	Single nucleotide variant (synonymous variant)	Myopathy, proximal, and ophthalmoplegia +2 more	GBenign/Likely benign
Select item 289930	NM_017534.6(MYH2):c.3585G>A (p.Ala1195=)	MYH2, MYHAS	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
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 196035	NM_017534.6(MYH2):c.3432C>T (p.Asp1144=)	MYH2, MYHAS	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 196034	NM_017534.6(MYH2):c.3384C>T (p.Ile1128=)	MYH2, MYHAS	Single nucleotide variant (synonymous variant)	Myopathy, proximal, and ophthalmoplegia +1 more	GConflicting classifications of pathogenicity
Select item 195897	NM_017534.6(MYH2):c.3181C>G (p.Leu1061Val)	MYH2, MYHAS (L1061V)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 195898	NM_017534.6(MYH2):c.3127T>G (p.Ser1043Ala)	MYH2, MYHAS (S1043A)	Single nucleotide variant (missense variant)	Myopathy, proximal, and ophthalmoplegia +2 more	GConflicting classifications of pathogenicity
Select item 284985	NM_017534.6(MYH2):c.3000G>A (p.Lys1000=)	MYH2, MYHAS	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 285372	NM_017534.6(MYH2):c.2967A>G (p.Ala989=)	MYH2, MYHAS	Single nucleotide variant (synonymous variant)	Myopathy, proximal, and ophthalmoplegia +2 more	GBenign/Likely benign
Select item 195769	NM_017534.6(MYH2):c.2908G>A (p.Val970Ile)	MYH2, MYHAS (V970I)	Single nucleotide variant (missense variant)	Myopathy, proximal, and ophthalmoplegia +2 more	GBenign/Likely benign
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 195517	NM_017534.6(MYH2):c.2304+7T>G	MYH2, MYHAS	Single nucleotide variant (intron variant)	Myopathy, proximal, and ophthalmoplegia +1 more	GBenign/Likely benign
Select item 195516	NM_017534.6(MYH2):c.2295G>A (p.Gly765=)	MYH2, MYHAS	Single nucleotide variant (synonymous variant)	Myopathy, proximal, and ophthalmoplegia +2 more	GBenign/Likely benign
Select item 291167	NM_017534.6(MYH2):c.2270T>C (p.Ile757Thr)	MYH2, MYHAS (I757T)	Single nucleotide variant (missense variant)	Myopathy, proximal, and ophthalmoplegia +2 more	GConflicting classifications of pathogenicity
Select item 194975	NM_017534.6(MYH2):c.2106C>T (p.Asn702=)	MYH2, MYHAS	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign/Likely benign
Select item 500338	NM_017534.6(MYH2):c.1959G>A (p.Val653=)	MYH2, MYHAS	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 499533	NM_017534.6(MYH2):c.1792G>A (p.Glu598Lys)	MYH2, MYHAS (E598K)	Single nucleotide variant (missense variant)	Myopathy, proximal, and ophthalmoplegia +1 more	GUncertain significance
Select item 502511	NM_017534.6(MYH2):c.1417-6A>C	MYH2, MYHAS	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 260824	NM_017534.6(MYH2):c.399T>A (p.Pro133=)	MYH2, MYHAS	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign
Select item 291165	NM_017534.6(MYH2):c.373A>C (p.Thr125Pro)	MYH2, MYHAS (T125P)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 465935	NM_017534.6(MYH2):c.332C>T (p.Ala111Val)	MYH2, MYHAS (A111V)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 260821	NM_017534.6(MYH2):c.324A>G (p.Glu108=)	MYH2, MYHAS	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign

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Items: 31