"ClinGen Cardiomyopathy Variant Curation Expert Panel"[submitter] AND - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 161323	NM_000257.4(MYH7):c.5305C>A (p.Leu1769Met)	LOC126861897, MYH7 (L1769M)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy	GUncertain significance FDA Recognized database
Select item 43059	NM_000257.4(MYH7):c.5302G>A (p.Glu1768Lys)	LOC126861897, MYH7 (E1768K)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy	GUncertain significance FDA Recognized database
Select item 36642	NM_000257.4(MYH7):c.5135G>A (p.Arg1712Gln)	LOC126861897, MHRT +1 more (R1712Q)	Single nucleotide variant (non-coding transcript variant +1 more)	Hypertrophic cardiomyopathy	GPathogenic FDA Recognized database
Select item 14118	NM_000257.4(MYH7):c.5134C>T (p.Arg1712Trp)	MHRT, MYH7 +1 more (R1712W)	Single nucleotide variant (non-coding transcript variant +1 more)	Hypertrophic cardiomyopathy	GLikely pathogenic FDA Recognized database
Select item 43056	NM_000257.4(MYH7):c.5106G>A (p.Ala1702=)	LOC126861897, MHRT +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	Cardiomyopathy	GBenign FDA Recognized database
Select item 43048	NM_000257.4(MYH7):c.4974C>T (p.Asp1658=)	LOC126861897, MHRT +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	Cardiomyopathy	GBenign FDA Recognized database
Select item 43044	NM_000257.4(MYH7):c.4909G>A (p.Ala1637Thr)	LOC126861897, MHRT +1 more (A1637T)	Single nucleotide variant (non-coding transcript variant +1 more)	Cardiomyopathy	GLikely benign FDA Recognized database
Select item 43035	NM_000257.4(MYH7):c.4788G>A (p.Ser1596=)	LOC126861897, MHRT +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	Cardiomyopathy	GBenign FDA Recognized database
Select item 43032	NM_000257.4(MYH7):c.4716C>T (p.Ile1572=)	LOC126861897, MHRT +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	Cardiomyopathy	GBenign FDA Recognized database
Select item 43031	NM_000257.4(MYH7):c.4671G>A (p.Lys1557=)	LOC126861897, MHRT +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	Cardiomyopathy	GBenign FDA Recognized database