"PreventionGenetics, part of Exact Sciences"[submitter] AND "LOC126861 - ClinVar - NCBI

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Search results

Items: 15

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 695785	NM_002471.4(MYH6):c.5085G>A (p.Glu1695=)	LOC126861896, MYH6	Single nucleotide variant (synonymous variant)	not provided +3 more	GLikely 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 36632	NM_002471.4(MYH6):c.4960-17A>T	LOC126861896, MYH6	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 258712	NM_002471.4(MYH6):c.4959+46G>C	LOC126861896, MYH6	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 1744084	NM_002471.4(MYH6):c.4917C>T (p.Ala1639=)	LOC126861896, MYH6	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GLikely benign
Select item 44526	NM_002471.4(MYH6):c.4914T>C (p.Ala1638=)	LOC126861896, MYH6	Single nucleotide variant (synonymous variant)	not provided +3 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 470545	NM_002471.4(MYH6):c.4833C>T (p.Asn1611=)	LOC126861896, MYH6	Single nucleotide variant (synonymous variant)	not provided +7 more	GLikely benign
Select item 228895	NM_002471.4(MYH6):c.4828C>T (p.Arg1610Cys)	MYH6, LOC126861896 (R1610C)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +8 more	GUncertain significance
Select item 518175	NM_002471.4(MYH6):c.4812T>C (p.Asp1604=)	LOC126861896, MYH6	Single nucleotide variant (synonymous variant)	not specified +7 more	GBenign/Likely benign
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 258711	NM_002471.4(MYH6):c.4651-17G>A	LOC126861896, MYH6	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 3043747	NM_002471.4(MYH6):c.4651-19T>A	LOC126861896, MYH6	Single nucleotide variant (intron variant)	MYH6-related disorder	GLikely benign
Select item 3054776	NM_002471.4(MYH6):c.4651-22C>T	LOC126861896, MYH6	Single nucleotide variant (intron variant)	MYH6-related disorder	GLikely benign