"Blueprint Genetics"[submitter] AND "LDB3"[gene] - ClinVar - NCBI

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Items: 8

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 180398	NM_007078.3(LDB3):c.172G>A (p.Asp58Asn)	LDB3 (D58N)	Single nucleotide variant (missense variant)	Myofibrillar myopathy 4 +1 more	GUncertain significance
Select item 45544	NM_007078.3(LDB3):c.352G>A (p.Val118Met)	LDB3 (V118M)	Single nucleotide variant (intron variant +1 more)	not specified +6 more	GBenign/Likely benign
Select item 155805	NM_007078.3(LDB3):c.358C>A (p.Pro120Thr)	LDB3 (P120T)	Single nucleotide variant (missense variant +1 more)	Primary familial hypertrophic cardiomyopathy	GUncertain significance
Select item 180399	NM_007078.3(LDB3):c.466G>A (p.Ala156Thr)	LDB3 (A156T)	Single nucleotide variant (missense variant +1 more)	Myofibrillar myopathy 4 +3 more	GBenign/Likely benign
Select item 222686	NM_007078.3(LDB3):c.494G>A (p.Arg165Gln)	LDB3 (R165Q)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype +3 more	GUncertain significance
Select item 180400	NM_007078.3(LDB3):c.532C>G (p.Arg178Gly)	LDB3 (R178G)	Single nucleotide variant (missense variant +1 more)	Primary familial hypertrophic cardiomyopathy +1 more	GConflicting classifications of pathogenicity
Select item 222687	NM_007078.3(LDB3):c.1049C>T (p.Thr350Ile)	LDB3 (T350I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 180401	NM_007078.3(LDB3):c.1403A>G (p.Asn468Ser)	LDB3 (N468S +4 more)	Single nucleotide variant (missense variant)	Myofibrillar myopathy 4 +2 more	GConflicting classifications of pathogenicity