"Ambry Genetics"[submitter] AND "LOC126860796"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2458330	NM_001606.5(ABCA2):c.6139G>A (p.Asp2047Asn)	ABCA2, LOC126860796 (D2046N +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2252772	NM_001606.5(ABCA2):c.6113G>A (p.Arg2038Gln)	ABCA2, LOC126860796 (R2037Q +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2251701	NM_001606.5(ABCA2):c.6076A>C (p.Lys2026Gln)	ABCA2, LOC126860796 (K2056Q +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2492019	NM_001606.5(ABCA2):c.6064C>T (p.Pro2022Ser)	ABCA2, LOC126860796 (P2021S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2316855	NM_001606.5(ABCA2):c.5966T>C (p.Val1989Ala)	ABCA2, LOC126860796 (V1988A +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2241063	NM_001606.5(ABCA2):c.5939T>G (p.Met1980Arg)	ABCA2, LOC126860796 (M1980R +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2473772	NM_001606.5(ABCA2):c.5755G>A (p.Ala1919Thr)	ABCA2, LOC126860796 (A1949T +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance

ClinVar