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

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Items: 17

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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)	LOC126861897, MHRT +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=)	MHRT, LOC126861897 +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	Cardiomyopathy	GBenign FDA Recognized database
Select item 43029	NM_000257.4(MYH7):c.4588C>T (p.Arg1530Ter)	MHRT, MYH7 (R1530*)	Single nucleotide variant (non-coding transcript variant +1 more)	Cardiomyopathy	GUncertain significance FDA Recognized database
Select item 43027	NM_000257.4(MYH7):c.4566T>C (p.Thr1522=)	MHRT, MYH7	Single nucleotide variant (non-coding transcript variant +1 more)	Cardiomyopathy	GBenign FDA Recognized database
Select item 180439	NM_000257.4(MYH7):c.4499G>A (p.Arg1500Gln)	MHRT, MYH7 (R1500Q)	Single nucleotide variant (missense variant)	Cardiomyopathy	GUncertain significance FDA Recognized database
Select item 43020	NM_000257.4(MYH7):c.4472C>G (p.Ser1491Cys)	MHRT, MYH7 (S1491C)	Single nucleotide variant (missense variant)	Cardiomyopathy	GBenign FDA Recognized database
Select item 43019	NM_000257.4(MYH7):c.4452C>T (p.Leu1484=)	MHRT, MYH7	Single nucleotide variant (non-coding transcript variant +1 more)	Cardiomyopathy	GBenign FDA Recognized database
Select item 43012	NM_000257.4(MYH7):c.4377G>T (p.Lys1459Asn)	MHRT, MYH7 (K1459N)	Single nucleotide variant (non-coding transcript variant +1 more)	Cardiomyopathy	GLikely benign FDA Recognized database
Select item 43011	NM_000257.4(MYH7):c.4354-7C>T	MHRT, MYH7	Single nucleotide variant (non-coding transcript variant +1 more)	Hypertrophic cardiomyopathy	GUncertain significance FDA Recognized database
Select item 164289	NM_000257.4(MYH7):c.4283T>C (p.Leu1428Ser)	MHRT, MYH7 (L1428S)	Single nucleotide variant (non-coding transcript variant +1 more)	Hypertrophic cardiomyopathy	GUncertain significance FDA Recognized database
Select item 43005	NM_000257.4(MYH7):c.4276G>A (p.Glu1426Lys)	MHRT, MYH7 (E1426K)	Single nucleotide variant (non-coding transcript variant +1 more)	Primary dilated cardiomyopathy	GUncertain significance FDA Recognized database