"PreventionGenetics, part of Exact Sciences"[submitter] AND "ABCA2"[ge - ClinVar

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Items: 43

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3058416	NM_001606.5(ABCA2):c.7176G>A (p.Arg2392=)	ABCA2	Single nucleotide variant (synonymous variant)	ABCA2-related disorder	GLikely benign
Select item 2353929	NM_001606.5(ABCA2):c.7175G>A (p.Arg2392Gln)	ABCA2 (R2392Q +2 more)	Single nucleotide variant (missense variant)	ABCA2-related disorder +1 more	GUncertain significance
Select item 3058730	NM_001606.5(ABCA2):c.7164C>T (p.Leu2388=)	ABCA2	Single nucleotide variant (synonymous variant)	ABCA2-related disorder	GLikely benign
Select item 2634932	NM_001606.5(ABCA2):c.6892C>T (p.Arg2298Trp)	ABCA2 (R2297W +2 more)	Single nucleotide variant (missense variant)	ABCA2-related disorder	GUncertain significance
Select item 3053169	NM_001606.5(ABCA2):c.6624C>T (p.Ile2208=)	ABCA2	Single nucleotide variant (synonymous variant)	ABCA2-related disorder	GLikely benign
Select item 2659764	NM_001606.5(ABCA2):c.6486C>T (p.Asp2162=)	ABCA2	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 740490	NM_001606.5(ABCA2):c.6340G>A (p.Val2114Ile)	ABCA2 (V2114I +1 more)	Single nucleotide variant (missense variant)	ABCA2-related disorder +1 more	GLikely benign
Select item 3058663	NM_001606.5(ABCA2):c.6324G>A (p.Thr2108=)	ABCA2	Single nucleotide variant (synonymous variant)	ABCA2-related disorder	GLikely benign
Select item 3045894	NM_001606.5(ABCA2):c.5808G>A (p.Lys1936=)	ABCA2, LOC126860796	Single nucleotide variant (synonymous variant)	ABCA2-related disorder	GLikely benign
Select item 3035769	NM_001606.5(ABCA2):c.5604G>A (p.Thr1868=)	ABCA2	Single nucleotide variant (synonymous variant)	ABCA2-related disorder	GLikely benign
Select item 3045144	NM_001606.5(ABCA2):c.5535+3G>A	ABCA2	Single nucleotide variant (intron variant)	ABCA2-related disorder	GLikely benign
Select item 3042485	NM_001606.5(ABCA2):c.5517G>A (p.Ala1839=)	ABCA2	Single nucleotide variant (synonymous variant)	ABCA2-related disorder	GLikely benign
Select item 1206305	NM_001606.5(ABCA2):c.5134G>A (p.Gly1712Ser)	ABCA2 (G1712S +1 more)	Single nucleotide variant (missense variant)	ABCA2-related disorder +1 more	GLikely benign
Select item 3041628	NM_001606.5(ABCA2):c.5126C>T (p.Ala1709Val)	ABCA2 (A1708V +2 more)	Single nucleotide variant (missense variant)	ABCA2-related disorder	GUncertain significance
Select item 2659773	NM_001606.5(ABCA2):c.4794A>C (p.Pro1598=)	ABCA2	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 3045055	NM_001606.5(ABCA2):c.4785G>C (p.Ser1595=)	ABCA2	Single nucleotide variant (synonymous variant)	ABCA2-related disorder	GLikely benign
Select item 3041390	NM_001606.5(ABCA2):c.4779A>C (p.Pro1593=)	ABCA2	Single nucleotide variant (synonymous variant)	ABCA2-related disorder	GLikely benign
Select item 2213995	NM_001606.5(ABCA2):c.4543G>A (p.Glu1515Lys)	ABCA2 (E1514K +2 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 3044326	NM_001606.5(ABCA2):c.4542C>T (p.Arg1514=)	ABCA2	Single nucleotide variant (synonymous variant)	ABCA2-related disorder	GLikely benign
Select item 3053840	NM_001606.5(ABCA2):c.4422C>T (p.Thr1474=)	ABCA2	Single nucleotide variant (synonymous variant)	ABCA2-related disorder	GLikely benign
Select item 3055588	NM_001606.5(ABCA2):c.4371A>C (p.Ala1457=)	ABCA2	Single nucleotide variant (synonymous variant)	ABCA2-related disorder	GLikely benign
Select item 789025	NM_001606.5(ABCA2):c.4267G>T (p.Val1423Phe)	ABCA2 (V1423F +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 2629270	NM_001606.5(ABCA2):c.4069G>A (p.Ala1357Thr)	ABCA2 (A1356T +2 more)	Single nucleotide variant (missense variant)	ABCA2-related disorder +1 more	GUncertain significance
Select item 3043352	NM_001606.5(ABCA2):c.3849C>T (p.Ala1283=)	ABCA2	Single nucleotide variant (synonymous variant)	ABCA2-related disorder	GLikely benign
Select item 3034960	NM_001606.5(ABCA2):c.3318-9C>G	ABCA2	Single nucleotide variant (intron variant)	ABCA2-related disorder	GLikely benign
Select item 3057482	NM_001606.5(ABCA2):c.3144C>T (p.Ser1048=)	ABCA2	Single nucleotide variant (synonymous variant)	ABCA2-related disorder	GLikely benign
Select item 3052621	NM_001606.5(ABCA2):c.3081C>T (p.Asn1027=)	ABCA2	Single nucleotide variant (synonymous variant)	ABCA2-related disorder	GLikely benign
Select item 3025209	NM_001606.5(ABCA2):c.2568G>A (p.Thr856=)	ABCA2	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 3040970	NM_001606.5(ABCA2):c.2532G>A (p.Thr844=)	ABCA2	Single nucleotide variant (synonymous variant)	ABCA2-related disorder	GLikely benign
Select item 2659786	NM_001606.5(ABCA2):c.1863C>T (p.His621=)	ABCA2	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 3055499	NM_001606.5(ABCA2):c.1412G>A (p.Arg471His)	ABCA2 (R470H +2 more)	Single nucleotide variant (missense variant)	ABCA2-related disorder	GLikely benign
Select item 3051602	NM_001606.5(ABCA2):c.1266-6C>T	ABCA2	Single nucleotide variant (intron variant)	ABCA2-related disorder	GLikely benign
Select item 522833	NM_001606.5(ABCA2):c.1193C>A (p.Thr398Lys)	ABCA2 (T398K +1 more)	Single nucleotide variant (missense variant)	ABCA2-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 776478	NM_001606.5(ABCA2):c.1091C>T (p.Ala364Val)	ABCA2 (A394V +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 3041634	NM_001606.5(ABCA2):c.801T>G (p.Ala267=)	ABCA2	Single nucleotide variant (synonymous variant)	ABCA2-related disorder	GBenign
Select item 3059568	NM_001606.5(ABCA2):c.491G>A (p.Arg164His)	ABCA2 (R163H +2 more)	Single nucleotide variant (missense variant)	ABCA2-related disorder	GBenign
Select item 744705	NM_001606.5(ABCA2):c.470G>C (p.Arg157Thr)	ABCA2 (R187T +1 more)	Single nucleotide variant (missense variant)	ABCA2-related disorder +1 more	GLikely benign
Select item 3042255	NM_001606.5(ABCA2):c.398C>T (p.Ala133Val)	ABCA2 (A132V +2 more)	Single nucleotide variant (missense variant)	ABCA2-related disorder	GLikely benign
Select item 3050564	NM_001606.5(ABCA2):c.276-7G>T	ABCA2	Single nucleotide variant (intron variant)	ABCA2-related disorder	GLikely benign
Select item 3058960	NM_001606.5(ABCA2):c.275C>G (p.Thr92Arg)	ABCA2 (T122R +2 more)	Single nucleotide variant (missense variant)	ABCA2-related disorder	GUncertain significance
Select item 3034434	NM_001606.5(ABCA2):c.163+10C>T	ABCA2	Single nucleotide variant (intron variant)	ABCA2-related disorder	GLikely benign
Select item 3035011	NM_001606.5(ABCA2):c.160+9G>A	ABCA2	Single nucleotide variant (intron variant)	ABCA2-related disorder	GLikely benign
Select item 785303	NM_212533.3(ABCA2):c.1A>G (p.Met1Val)	ABCA2, LINC02908 (M1V)	Single nucleotide variant (missense variant +1 more)	ABCA2-related disorder +1 more	GBenign/Likely benign

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Items: 43