"Blueprint Genetics"[submitter] AND "LOC126861897"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 177846	NM_000257.4(MYH7):c.5287G>A (p.Ala1763Thr)	LOC126861897, MYH7 (A1763T)	Single nucleotide variant (missense variant)	not provided +11 more	GUncertain significance
Select item 180440	NM_000257.4(MYH7):c.5243G>A (p.Cys1748Tyr)	LOC126861897, MYH7 (C1748Y)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1S +8 more	GConflicting classifications of pathogenicity
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

ClinVar