ClinVar (all) for Orgtrack (Select 500016) - ClinVar - NCBI

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Items: 14

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 132986	NM_000258.3(MYL3):c.482-2A>G	MYL3	Single nucleotide variant (splice acceptor variant +1 more)	not provided	Gnot provided
Select item 132975	NM_000258.3(MYL3):c.*27G>A	MYL3	Single nucleotide variant (3 prime UTR variant)	not specified	GLikely benign
Select item 31784	NM_000258.3(MYL3):c.382G>T (p.Gly128Cys)	MYL3 (G128C)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 31783	NM_000258.3(MYL3):c.463C>G (p.His155Asp)	MYL3 (H155D)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 31782	NM_000258.3(MYL3):c.454G>A (p.Glu152Lys)	MYL3 (E152K)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 31781	NM_000258.3(MYL3):c.559+6C>T	MYL3	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy +2 more	GBenign/Likely benign
Select item 31780	NM_000258.3(MYL3):c.170C>G (p.Ala57Gly)	MYL3 (A57G)	Single nucleotide variant (missense variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 31779	NM_000258.3(MYL3):c.517A>G (p.Met173Val)	MYL3 (M173V)	Single nucleotide variant (missense variant)	not provided +5 more	GUncertain significance
Select item 31778	NM_000258.3(MYL3):c.466G>A (p.Val156Met)	MYL3 (V156M)	Single nucleotide variant (missense variant)	Primary familial hypertrophic cardiomyopathy +5 more	GConflicting classifications of pathogenicity
Select item 31777	NM_000258.3(MYL3):c.281G>A (p.Arg94His)	MYL3 (R94H)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +4 more	GPathogenic/Likely pathogenic
Select item 31776	NM_000258.3(MYL3):c.167A>G (p.Glu56Gly)	MYL3 (E56G)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 14063	NM_000258.3(MYL3):c.427G>A (p.Glu143Lys)	MYL3 (E143K)	Single nucleotide variant (missense variant)	MYL3-related condition +6 more	GConflicting classifications of pathogenicity
Select item 14062	NM_000258.3(MYL3):c.461G>A (p.Arg154His)	MYL3 (R154H)	Single nucleotide variant (missense variant)	Cardiomyopathy +4 more	GUncertain significance
Select item 14061	NM_000258.3(MYL3):c.445A>G (p.Met149Val)	MYL3 (M149V)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic