"GenomeConnect, ClinGen"[submitter] AND "MYH7"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 585162	NM_000257.4(MYH7):c.5283+2dup	LOC126861897, MYH7	Duplication (splice donor variant)	not provided	Gnot provided
Select item 973032	NM_000257.4(MYH7):c.4489A>T (p.Thr1497Ser)	MHRT, MYH7 (T1497S)	Single nucleotide variant (missense variant)	Cardiomyopathy +1 more	GUncertain significance
Select item 179201	NM_000257.4(MYH7):c.4156C>T (p.Leu1386Phe)	MYH7 (L1386F)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 14091	NM_000257.4(MYH7):c.1816G>A (p.Val606Met)	MYH7 (V606M)	Single nucleotide variant (missense variant)	Primary familial hypertrophic cardiomyopathy +9 more	GPathogenic/Likely pathogenic
Select item 454342	NM_000257.4(MYH7):c.1481T>A (p.Phe494Tyr)	MYH7 (F494Y)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy	GUncertain significance
Select item 570834	NM_000257.4(MYH7):c.209C>T (p.Thr70Ile)	MYH7 (T70I)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy	GUncertain significance
Select item 973024	GRCh37/hg19 14q11.2-21.1(chr14:20511672-42881888)x3	AKAP6, MDP1 +187 more	Copy number gain	not provided	Gnot provided

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