"New York Genome Center"[submitter] AND "ABCA1"[gene] - ClinVar

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Items: 21

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1326278	NM_005502.4(ABCA1):c.6599G>A (p.Arg2200Gln)	ABCA1, NIPSNAP3B (R2200Q)	Single nucleotide variant (missense variant)	Hypoalphalipoproteinemia, primary, 1 +3 more	GConflicting classifications of pathogenicity
Select item 1355168	NM_005502.4(ABCA1):c.6118A>G (p.Lys2040Glu)	ABCA1, NIPSNAP3B (K2040E)	Single nucleotide variant (missense variant)	Hypoalphalipoproteinemia, primary, 1 +2 more	GConflicting classifications of pathogenicity
Select item 2502190	NM_005502.4(ABCA1):c.6113G>A (p.Gly2038Glu)	ABCA1, NIPSNAP3B (G2038E)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 1803874	NM_005502.4(ABCA1):c.6057A>C (p.Lys2019Asn)	ABCA1, NIPSNAP3B (K2019N)	Single nucleotide variant (missense variant)	Hypoalphalipoproteinemia, primary, 1 +1 more	GUncertain significance
Select item 2502192	NM_005502.4(ABCA1):c.5762A>G (p.Tyr1921Cys)	ABCA1 (Y1921C)	Single nucleotide variant (missense variant)	Tangier disease +1 more	GUncertain significance
Select item 1329701	NM_005502.4(ABCA1):c.5492C>T (p.Ala1831Val)	ABCA1 (A1831V)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 1803885	NM_005502.4(ABCA1):c.4539T>A (p.Tyr1513Ter)	ABCA1 (Y1513*)	Single nucleotide variant (nonsense)	Hypoalphalipoproteinemia, primary, 1	GLikely pathogenic
Select item 1803860	NM_005502.4(ABCA1):c.4464+398C>T	ABCA1	Single nucleotide variant (intron variant)	Hypoalphalipoproteinemia, primary, 1 +1 more	GUncertain significance
Select item 521460	NM_005502.4(ABCA1):c.4037G>A (p.Gly1346Glu)	ABCA1 (G1346E)	Single nucleotide variant (missense variant)	Hypoalphalipoproteinemia, primary, 1 +3 more	GConflicting classifications of pathogenicity
Select item 2077232	NM_005502.4(ABCA1):c.3584G>A (p.Arg1195Gln)	ABCA1 (R1195Q)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 2584631	NM_005502.4(ABCA1):c.3462+510A>G	ABCA1	Single nucleotide variant (intron variant)	Tangier disease +1 more	GUncertain significance
Select item 1803816	NM_005502.4(ABCA1):c.2995C>T (p.Arg999Cys)	ABCA1 (R999C)	Single nucleotide variant (missense variant)	Hypoalphalipoproteinemia, primary, 1 +1 more	GUncertain significance
Select item 1657879	NM_005502.4(ABCA1):c.2543-3C>T	ABCA1	Single nucleotide variant (intron variant)	not specified +5 more	GConflicting classifications of pathogenicity
Select item 364431	NM_005502.4(ABCA1):c.2320A>C (p.Thr774Pro)	ABCA1 (T774P)	Single nucleotide variant (missense variant)	Tangier disease +3 more	GConflicting classifications of pathogenicity
Select item 2584607	NM_005502.4(ABCA1):c.2005G>C (p.Glu669Gln)	ABCA1 (E669Q)	Single nucleotide variant (missense variant)	Tangier disease +1 more	GUncertain significance
Select item 1445865	NM_005502.4(ABCA1):c.1765G>A (p.Val589Ile)	ABCA1 (V589I)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1402805	NM_005502.4(ABCA1):c.1390G>A (p.Val464Met)	ABCA1 (V464M)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1803861	NM_005502.4(ABCA1):c.1227C>G (p.Phe409Leu)	ABCA1 (F409L)	Single nucleotide variant (missense variant)	Hypoalphalipoproteinemia, primary, 1 +1 more	GUncertain significance
Select item 364446	NM_005502.4(ABCA1):c.1196T>C (p.Val399Ala)	ABCA1 (V399A)	Single nucleotide variant (missense variant)	Hypoalphalipoproteinemia, primary, 1 +4 more	GConflicting classifications of pathogenicity
Select item 1803827	NM_005502.4(ABCA1):c.844C>T (p.Arg282Ter)	ABCA1 (R282*)	Single nucleotide variant (nonsense)	Hypoalphalipoproteinemia, primary, 1 +1 more	GLikely pathogenic
Select item 2665024	NM_005502.4(ABCA1):c.720+3681G>A	ABCA1	Single nucleotide variant (intron variant)	Hypoalphalipoproteinemia, primary, 1	GUncertain significance

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Items: 21