"Stanford Center for Inherited Cardiovascular Disease, Stanford Univer - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 222477	NM_020297.4(ABCC9):c.4512+744_4512+746delinsAAAT	ABCC9 (L1524fs)	Indel (frameshift variant +1 more)	Cardiovascular phenotype +5 more	GUncertain significance
Select item 410818	NM_020297.4(ABCC9):c.3589C>T (p.Arg1197Cys)	ABCC9 (R1197C +1 more)	Single nucleotide variant (missense variant)	Hypertrichotic osteochondrodysplasia Cantu type +2 more	GConflicting classifications of pathogenicity
Select item 517469	NM_020297.4(ABCC9):c.2746C>T (p.Arg916Trp)	ABCC9 (R916W +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 228423	NM_020297.4(ABCC9):c.2199-13G>A	ABCC9	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 1O +2 more	GConflicting classifications of pathogenicity
Select item 234973	NM_020297.4(ABCC9):c.1043T>G (p.Leu348Arg)	ABCC9 (L348R +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 234974	NM_020297.4(ABCC9):c.826G>A (p.Ala276Thr)	ABCC9 (A276T)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype +1 more	GUncertain significance

ClinVar