C0039292[trait identifier] AND "Genome-Nilou Lab"[submitter] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1185368	NM_005502.4(ABCA1):c.6401+86C>A	ABCA1, NIPSNAP3B	Single nucleotide variant (intron variant)	Tangier disease +1 more	GBenign
Select item 364379	NM_005502.4(ABCA1):c.6401+13A>G	ABCA1, NIPSNAP3B	Single nucleotide variant (intron variant)	Hypoalphalipoproteinemia, primary, 1 +3 more	GBenign
Select item 928662	NM_005502.4(ABCA1):c.5927+18T>C	ABCA1	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 364398	NM_005502.4(ABCA1):c.4760A>G (p.Lys1587Arg)	ABCA1 (K1587R)	Single nucleotide variant (missense variant)	Hypoalphalipoproteinemia, primary, 1 +3 more	GBenign
Select item 1185369	NM_005502.4(ABCA1):c.4559+30G>T	ABCA1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 9506	NM_005502.4(ABCA1):c.656G>A (p.Arg219Lys)	ABCA1 (R219K)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign

ClinVar