"Blueprint Genetics"[submitter] AND "MYL3"[gene] - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 222738	NM_000258.3(MYL3):c.571C>G (p.His191Asp)	MYL3 (H191D)	Single nucleotide variant (missense variant)	Primary familial hypertrophic cardiomyopathy	GUncertain significance
Select item 222739	NM_000258.3(MYL3):c.560-3C>T	MYL3	Single nucleotide variant (intron variant)	Primary familial hypertrophic cardiomyopathy	GUncertain significance
Select item 36648	NM_000258.3(MYL3):c.530A>G (p.Glu177Gly)	MYL3 (E177G)	Single nucleotide variant (missense variant)	Cardiomyopathy +5 more	GUncertain significance
Select item 180443	NM_000258.3(MYL3):c.482-6T>C	MYL3	Single nucleotide variant (intron variant)	Primary familial hypertrophic cardiomyopathy	GUncertain significance
Select item 31778	NM_000258.3(MYL3):c.466G>A (p.Val156Met)	MYL3 (V156M)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy +5 more	GConflicting classifications of pathogenicity
Select item 222737	NM_000258.3(MYL3):c.451G>A (p.Ala151Thr)	MYL3 (A151T)	Single nucleotide variant (missense variant)	Primary familial hypertrophic cardiomyopathy +2 more	GConflicting classifications of pathogenicity
Select item 180442	NM_000258.3(MYL3):c.447G>A (p.Met149Ile)	MYL3 (M149I)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 222736	NM_000258.3(MYL3):c.383G>A (p.Gly128Asp)	MYL3 (G128D)	Single nucleotide variant (missense variant)	Primary familial hypertrophic cardiomyopathy +1 more	GConflicting classifications of pathogenicity
Select item 636485	NM_000258.3(MYL3):c.191C>T (p.Thr64Ile)	MYL3 (T64I)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy +1 more	GUncertain significance
Select item 43121	NM_000258.3(MYL3):c.170C>A (p.Ala57Asp)	MYL3 (A57D)	Single nucleotide variant (missense variant)	Long QT syndrome +5 more	GConflicting classifications of pathogenicity