"OMIM"[submitter] AND "ABCA1"[gene] - ClinVar

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Items: 23

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 9494	NM_005502.4(ABCA1):c.6241C>T (p.Arg2081Trp)	ABCA1, NIPSNAP3B (R2081W)	Single nucleotide variant (missense variant)	Tangier disease	GPathogenic
Select item 9502	NM_005502.4(ABCA1):c.6026T>C (p.Phe2009Ser)	ABCA1, NIPSNAP3B (F2009S)	Single nucleotide variant (missense variant)	Hypoalphalipoproteinemia, primary, 1	GPathogenic
Select item 9500	NM_005502.4(ABCA1):c.5038C>T (p.Arg1680Trp)	ABCA1 (R1680W)	Single nucleotide variant (missense variant)	Tangier disease, variant	GPathogenic
Select item 9496	NM_005502.4(ABCA1):c.4517C>T (p.Ser1506Leu)	ABCA1 (S1506L)	Single nucleotide variant (missense variant)	Tangier disease	GPathogenic
Select item 9483	NM_005502.4(ABCA1):c.4429T>C (p.Cys1477Arg)	ABCA1 (C1477R)	Single nucleotide variant (missense variant)	Tangier disease +1 more	GPathogenic
Select item 9503	NM_005502.4(ABCA1):c.3865G>A (p.Asp1289Asn)	ABCA1 (D1289N)	Single nucleotide variant (missense variant)	Hypoalphalipoproteinemia, primary, 1 +1 more	GBenign
Select item 9504	NM_005502.4(ABCA1):c.3849_3852del (p.Pro1284fs)	ABCA1 (P1284fs)	Deletion (frameshift variant)	Hypoalphalipoproteinemia, primary, 1	GPathogenic
Select item 9484	NM_005502.4(ABCA1):c.3738+1G>C	ABCA1	Single nucleotide variant (splice donor variant)	Tangier disease	GPathogenic
Select item 9493	NM_005502.4(ABCA1):c.3343_3344del (p.Ser1115fs)	ABCA1 (S1115fs)	Deletion (frameshift variant)	Tangier disease	GPathogenic
Select item 9501	NM_005502.4(ABCA1):c.3295G>T (p.Asp1099Tyr)	ABCA1 (D1099Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 9489	NM_005502.4(ABCA1):c.2810C>T (p.Ala937Val)	ABCA1 (A937V)	Single nucleotide variant (missense variant)	Tangier disease	GPathogenic
Select item 9488	NM_005502.4(ABCA1):c.2804A>G (p.Asn935Ser)	ABCA1 (N935S)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 9498	NM_005502.4(ABCA1):c.2803A>C (p.Asn935His)	ABCA1 (N935H)	Single nucleotide variant (missense variant)	Tangier disease	GPathogenic
Select item 9495	NM_005502.4(ABCA1):c.2725del (p.Arg909fs)	ABCA1 (R909fs)	Deletion (frameshift variant)	Tangier disease	GPathogenic
Select item 9486	NM_005502.4(ABCA1):c.2077CTT[1] (p.Leu694del)	ABCA1 (L694del)	Microsatellite (inframe_deletion)	Hypoalphalipoproteinemia, primary, 1	GPathogenic
Select item 9487	NM_005502.4(ABCA1):c.1824del (p.Thr609fs)	ABCA1 (T609fs)	Deletion (frameshift variant)	Tangier disease	GPathogenic
Select item 9485	NM_005502.4(ABCA1):c.1790A>G (p.Gln597Arg)	ABCA1 (Q597R)	Single nucleotide variant (missense variant)	Tangier disease	GPathogenic
Select item 9490	NM_005502.4(ABCA1):c.1769G>C (p.Trp590Ser)	ABCA1 (W590S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 9505	NM_005502.4(ABCA1):c.1719C>A (p.Tyr573Ter)	ABCA1 (Y573*)	Single nucleotide variant (nonsense)	Tangier disease	GPathogenic
Select item 9492	NM_005502.4(ABCA1):c.1584_1597delinsCGGGCGTGGTGGCAGGAGCTGTAATCCCAGCTACTTGGGAGGCTGAGGCACGAGAATCACTTGAACTCAGGAGGCAGAGGTTGCAGTGAGCTGAGGTCACGCCACTGTAC (p.Glu529_Trp533delinsGlyArgGlyGlyArgSerCysAsnProSerTyrLeuGlyGlyTer)	ABCA1	Indel (nonsense)	Tangier disease	GPathogenic
Select item 9506	NM_005502.4(ABCA1):c.656G>A (p.Arg219Lys)	ABCA1 (R219K)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign
Select item 9507	NM_005502.4(ABCA1):c.161-806C>T	ABCA1	Single nucleotide variant (intron variant)	ABCA1 polymorphism	GBenign
Select item 9499	NG_007981.1:g.[101177_102434delins36;107248_127198delins21]	ABCA1	Indel	Tangier disease	GPathogenic

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Items: 23