"Clinical Genetics, Academic Medical Center"[submitter] AND "LOC126861 - ClinVar

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Items: 20

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 239178	NM_002471.4(MYH6):c.5140C>A (p.Arg1714=)	LOC126861896, MYH6	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy 1 +6 more	GBenign/Likely benign
Select item 1174659	NM_002471.4(MYH6):c.5129A>T (p.Glu1710Val)	LOC126861896, MYH6 (E1710V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 227592	NM_002471.4(MYH6):c.5112G>A (p.Ala1704=)	LOC126861896, MYH6	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy 14 +4 more	GBenign/Likely benign
Select item 861577	NM_002471.4(MYH6):c.5026G>A (p.Val1676Met)	LOC126861896, MYH6 (V1676M)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 44529	NM_002471.4(MYH6):c.4986G>A (p.Ala1662=)	LOC126861896, MYH6	Single nucleotide variant (synonymous variant)	Cardiomyopathy +4 more	GBenign/Likely benign
Select item 44528	NM_002471.4(MYH6):c.4980C>T (p.Asp1660=)	LOC126861896, MYH6	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +3 more	GBenign
Select item 179576	NM_002471.4(MYH6):c.4960-9G>A	LOC126861896, MYH6	Single nucleotide variant (intron variant)	Atrial septal defect 3 +7 more	GBenign
Select item 36632	NM_002471.4(MYH6):c.4960-17A>T	LOC126861896, MYH6	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 36631	NM_002471.4(MYH6):c.4959+13G>A	LOC126861896, MYH6	Single nucleotide variant (intron variant)	Cardiomyopathy +3 more	GBenign
Select item 1284546	NM_002471.4(MYH6):c.4955T>C (p.Leu1652Pro)	LOC126861896, MYH6 (L1652P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 44526	NM_002471.4(MYH6):c.4914T>C (p.Ala1638=)	LOC126861896, MYH6	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +3 more	GBenign
Select item 44525	NM_002471.4(MYH6):c.4906C>T (p.Arg1636Cys)	LOC126861896, MYH6 (R1636C)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GBenign/Likely benign
Select item 178065	NM_002471.4(MYH6):c.4905C>T (p.Asn1635=)	LOC126861896, MYH6	Single nucleotide variant (synonymous variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 44524	NM_002471.4(MYH6):c.4899C>T (p.His1633=)	LOC126861896, MYH6	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy 14 +4 more	GBenign
Select item 44522	NM_002471.4(MYH6):c.4838T>C (p.Val1613Ala)	LOC126861896, MYH6 (V1613A)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 14 +2 more	GBenign
Select item 44520	NM_002471.4(MYH6):c.4778A>T (p.Gln1593Leu)	LOC126861896, MYH6 (Q1593L)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GBenign
Select item 44519	NM_002471.4(MYH6):c.4772A>G (p.Asn1591Ser)	LOC126861896, MYH6 (N1591S)	Single nucleotide variant (missense variant)	not provided +6 more	GUncertain significance
Select item 263944	NM_002471.4(MYH6):c.4685G>A (p.Arg1562Gln)	MYH6, LOC126861896 (R1562Q)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 36630	NM_002471.4(MYH6):c.4651-12A>C	LOC126861896, MYH6	Single nucleotide variant (intron variant)	Primary dilated cardiomyopathy +2 more	GBenign
Select item 258711	NM_002471.4(MYH6):c.4651-17G>A	LOC126861896, MYH6	Single nucleotide variant (intron variant)	not specified +2 more	GBenign

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Items: 20