"Blueprint Genetics"[submitter] AND "MHRT"[gene] - ClinVar - NCBI

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Items: 11

	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 222731	NM_000257.4(MYH7):c.5071G>A (p.Val1691Met)	MHRT, LOC126861897 +1 more (V1691M)	Single nucleotide variant (non-coding transcript variant +1 more)	Cardiomyopathy +4 more	GUncertain significance
Select item 222730	NM_000257.4(MYH7):c.4901G>A (p.Arg1634His)	LOC126861897, MHRT +1 more (R1634H)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +10 more	GUncertain significance
Select item 222729	NM_000257.4(MYH7):c.4717G>A (p.Glu1573Lys)	LOC126861897, MHRT +1 more (E1573K)	Single nucleotide variant (non-coding transcript variant +1 more)	MYH7-related disorder +7 more	GUncertain significance
Select item 222728	NM_000257.4(MYH7):c.4510A>T (p.Asn1504Tyr)	MHRT, MYH7 (N1504Y)	Single nucleotide variant (missense variant)	Primary dilated cardiomyopathy	GUncertain significance
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 43021	NM_000257.4(MYH7):c.4487A>C (p.Glu1496Ala)	MHRT, MYH7 (E1496A)	Single nucleotide variant (missense variant)	Myosin storage myopathy +4 more	GConflicting classifications of pathogenicity
Select item 181256	NM_000257.4(MYH7):c.4423C>T (p.Arg1475Cys)	MHRT, MYH7 (R1475C)	Single nucleotide variant (non-coding transcript variant +1 more)	Cardiomyopathy +9 more	GUncertain significance
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 636854	NM_000257.4(MYH7):c.4285A>T (p.Met1429Leu)	MHRT, MYH7 (M1429L)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
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