"PreventionGenetics, part of Exact Sciences"[submitter] AND "ABCA1"[ge - ClinVar

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Items: 21

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1210622	NM_005502.4(ABCA1):c.6205-39del	ABCA1, NIPSNAP3B	Deletion (intron variant)	ABCA1-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 3046713	NM_005502.4(ABCA1):c.6205-48G>T	ABCA1, NIPSNAP3B	Single nucleotide variant (intron variant)	ABCA1-related disorder	GBenign
Select item 1590698	NM_005502.4(ABCA1):c.5747A>C (p.Glu1916Ala)	ABCA1 (E1916A)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GBenign/Likely benign
Select item 1748887	NM_005502.4(ABCA1):c.5655A>G (p.Leu1885=)	ABCA1	Single nucleotide variant (synonymous variant)	ABCA1-related disorder +3 more	GLikely benign
Select item 364389	NM_005502.4(ABCA1):c.5398A>C (p.Asn1800His)	ABCA1 (N1800H)	Single nucleotide variant (missense variant)	Decreased HDL cholesterol concentration +5 more	GPathogenic/Likely pathogenic
Select item 9483	NM_005502.4(ABCA1):c.4429T>C (p.Cys1477Arg)	ABCA1 (C1477R)	Single nucleotide variant (missense variant)	ABCA1-related disorder	GPathogenic
Select item 364409	NM_005502.4(ABCA1):c.3945G>A (p.Gly1315=)	ABCA1	Single nucleotide variant (synonymous variant)	not provided +4 more	GBenign
Select item 364413	NM_005502.4(ABCA1):c.3633A>G (p.Glu1211=)	ABCA1	Single nucleotide variant (synonymous variant)	ABCA1-related disorder +4 more	GBenign
Select item 364416	NM_005502.4(ABCA1):c.3516G>C (p.Glu1172Asp)	ABCA1 (E1172D)	Single nucleotide variant (missense variant)	ABCA1-related disorder +4 more	GBenign
Select item 364425	NM_005502.4(ABCA1):c.2814G>A (p.Gly938=)	ABCA1	Single nucleotide variant (synonymous variant)	ABCA1-related disorder +5 more	GBenign/Likely benign
Select item 1657879	NM_005502.4(ABCA1):c.2543-3C>T	ABCA1	Single nucleotide variant (intron variant)	Tangier disease +5 more	GConflicting classifications of pathogenicity
Select item 1940759	NM_005502.4(ABCA1):c.2191C>T (p.Leu731=)	ABCA1	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 364443	NM_005502.4(ABCA1):c.1635C>T (p.Ser545=)	ABCA1	Single nucleotide variant (synonymous variant)	not specified +5 more	GBenign/Likely benign
Select item 1770654	NM_005502.4(ABCA1):c.1353G>A (p.Gln451=)	ABCA1	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 1206525	NM_005502.4(ABCA1):c.1195-28C>T	ABCA1	Single nucleotide variant (intron variant)	ABCA1-related disorder +1 more	GBenign/Likely benign
Select item 364449	NM_005502.4(ABCA1):c.1028C>T (p.Ala343Val)	ABCA1 (A343V)	Single nucleotide variant (missense variant)	ABCA1-related disorder +4 more	GBenign/Likely benign
Select item 364451	NM_005502.4(ABCA1):c.936C>T (p.Pro312=)	ABCA1	Single nucleotide variant (synonymous variant)	ABCA1-related disorder +4 more	GBenign
Select item 364456	NM_005502.4(ABCA1):c.688C>T (p.Arg230Cys)	ABCA1 (R230C)	Single nucleotide variant (missense variant)	not provided +4 more	GBenign
Select item 364458	NM_005502.4(ABCA1):c.651A>G (p.Leu217=)	ABCA1	Single nucleotide variant (synonymous variant)	not provided +5 more	GBenign/Likely benign
Select item 496296	NM_005502.4(ABCA1):c.634T>A (p.Ser212Thr)	ABCA1 (S212T)	Single nucleotide variant (missense variant)	Tangier disease +3 more	GBenign/Likely benign
Select item 981088	NM_005502.4(ABCA1):c.303-42_303-5dup	ABCA1	Duplication (intron variant)	not provided +3 more	GBenign/Likely benign

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Items: 21