"Clinical Genetics, Academic Medical Center"[submitter] AND "ABCA1"[ge - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 15

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1284516	NM_005502.4(ABCA1):c.6204+7A>G	ABCA1, NIPSNAP3B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 773913	NM_005502.4(ABCA1):c.5383-4_5383-3del	ABCA1	Deletion (intron variant)	not provided	GBenign
Select item 364393	NM_005502.4(ABCA1):c.5301T>C (p.Tyr1767=)	ABCA1	Single nucleotide variant (synonymous variant)	Tangier disease +4 more	GBenign/Likely benign
Select item 364398	NM_005502.4(ABCA1):c.4760A>G (p.Lys1587Arg)	ABCA1 (K1587R)	Single nucleotide variant (missense variant)	Tangier disease +3 more	GBenign
Select item 1328062	NM_005502.4(ABCA1):c.4536G>A (p.Thr1512=)	ABCA1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1284578	NM_005502.4(ABCA1):c.4155C>T (p.Asn1385=)	ABCA1	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign/Likely benign
Select item 1328072	NM_005502.4(ABCA1):c.3655G>T (p.Val1219Leu)	ABCA1 (V1219L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1284466	NM_005502.4(ABCA1):c.3432C>T (p.Asn1144=)	ABCA1	Single nucleotide variant (synonymous variant)	not specified +2 more	GLikely benign
Select item 364420	NM_005502.4(ABCA1):c.3204C>T (p.Arg1068=)	ABCA1	Single nucleotide variant (synonymous variant)	Tangier disease +3 more	GBenign/Likely benign
Select item 364426	NM_005502.4(ABCA1):c.2649A>G (p.Ile883Met)	ABCA1 (I883M)	Single nucleotide variant (missense variant)	Tangier disease +3 more	GBenign
Select item 364431	NM_005502.4(ABCA1):c.2320A>C (p.Thr774Pro)	ABCA1 (T774P)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 364446	NM_005502.4(ABCA1):c.1196T>C (p.Val399Ala)	ABCA1 (V399A)	Single nucleotide variant (missense variant)	Tangier disease +4 more	GConflicting classifications of pathogenicity
Select item 364455	NM_005502.4(ABCA1):c.720+6T>C	ABCA1	Single nucleotide variant (intron variant)	Tangier disease +3 more	GBenign/Likely benign
Select item 364464	NM_005502.4(ABCA1):c.254C>T (p.Pro85Leu)	ABCA1 (P85L)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 1284629	NM_005502.4(ABCA1):c.66+9G>T	ABCA1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign