"GeneDx"[submitter] AND "ABCA1"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59881	GRCh38/hg38 9q22.1-32(chr9:88522292-113687796)x3	LOC130002218, LOC130002219 +994 more	Copy number gain	See cases	GPathogenic
Select item 144971	GRCh38/hg38 9q22.32-31.3(chr9:95061030-108695569)x1	LOC130002205, LOC130002206 +417 more	Copy number loss	See cases	GPathogenic
Select item 59123	GRCh38/hg38 9q22.33-33.1(chr9:99349916-115767475)x1	CT70, CTNNAL1 +509 more	Copy number loss	See cases	GPathogenic
Select item 364322	NM_005502.4(ABCA1):c.*3220A>G	ABCA1, NIPSNAP3B	Single nucleotide variant (3 prime UTR variant)	Tangier disease +2 more	GBenign
Select item 1287228	NM_005502.4(ABCA1):c.2897_2899del	ABCA1, NIPSNAP3B	Deletion (3 prime UTR variant)	not provided	GBenign
Select item 364335	NM_005502.4(ABCA1):c.*2311A>G	ABCA1, NIPSNAP3B	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GBenign
Select item 364339	NM_005502.4(ABCA1):c.*1911C>T	NIPSNAP3B, ABCA1	Single nucleotide variant (3 prime UTR variant)	Hypoalphalipoproteinemia, primary, 1 +2 more	GBenign
Select item 364341	NM_005502.4(ABCA1):c.*1896G>A	ABCA1, NIPSNAP3B	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GBenign
Select item 364345	NM_005502.4(ABCA1):c.*1653T>A	ABCA1, NIPSNAP3B	Single nucleotide variant (3 prime UTR variant)	Hypoalphalipoproteinemia, primary, 1 +2 more	GBenign
Select item 1228065	NM_005502.4(ABCA1):c.*1466dup	ABCA1, NIPSNAP3B	Duplication (3 prime UTR variant)	not provided	GBenign
Select item 364350	NM_005502.4(ABCA1):c.*1466del	NIPSNAP3B, ABCA1	Deletion (3 prime UTR variant)	Familial High Density Lipoprotein Deficiency +2 more	GBenign
Select item 364351	NM_005502.4(ABCA1):c.*1440C>T	ABCA1, NIPSNAP3B	Single nucleotide variant (3 prime UTR variant)	Hypoalphalipoproteinemia, primary, 1 +2 more	GBenign
Select item 364361	NM_005502.4(ABCA1):c.*693C>T	ABCA1, NIPSNAP3B	Single nucleotide variant (3 prime UTR variant)	Hypoalphalipoproteinemia, primary, 1 +2 more	GBenign
Select item 364367	NM_005502.4(ABCA1):c.*395T>A	ABCA1, NIPSNAP3B	Single nucleotide variant (3 prime UTR variant)	Tangier disease +2 more	GBenign
Select item 1286800	NM_005502.4(ABCA1):c.*321dup	ABCA1, NIPSNAP3B	Duplication (3 prime UTR variant)	not provided	GBenign
Select item 364374	NM_005502.4(ABCA1):c.*96T>C	NIPSNAP3B, ABCA1	Single nucleotide variant (3 prime UTR variant)	Tangier disease +2 more	GBenign/Likely benign
Select item 928660	NM_005502.4(ABCA1):c.6730G>A (p.Val2244Ile)	ABCA1, NIPSNAP3B (V2244I)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 364377	NM_005502.4(ABCA1):c.6729C>A (p.Asp2243Glu)	ABCA1, NIPSNAP3B (D2243E)	Single nucleotide variant (missense variant)	not specified +4 more	GBenign/Likely benign
Select item 1263610	NM_005502.4(ABCA1):c.6646-165T>C	ABCA1, NIPSNAP3B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1225848	NM_005502.4(ABCA1):c.6645+55G>C	ABCA1, NIPSNAP3B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1208444	NM_005502.4(ABCA1):c.6555T>G (p.Ser2185=)	ABCA1, NIPSNAP3B	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 1693354	NM_005502.4(ABCA1):c.6490C>T (p.Pro2164Ser)	ABCA1, NIPSNAP3B (P2164S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 364378	NM_005502.4(ABCA1):c.6450G>A (p.Pro2150=)	ABCA1, NIPSNAP3B	Single nucleotide variant (synonymous variant)	Tangier disease +4 more	GBenign/Likely benign
Select item 504124	NM_005502.4(ABCA1):c.6402-1G>T	ABCA1, NIPSNAP3B	Single nucleotide variant (splice acceptor variant)	not provided	GPathogenic
Select item 1266912	NM_005502.4(ABCA1):c.6401+204G>T	ABCA1, NIPSNAP3B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1287036	NM_005502.4(ABCA1):c.6401+117A>G	ABCA1, NIPSNAP3B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1185368	NM_005502.4(ABCA1):c.6401+86C>A	ABCA1, NIPSNAP3B	Single nucleotide variant (intron variant)	Tangier disease +1 more	GBenign
Select item 364379	NM_005502.4(ABCA1):c.6401+13A>G	ABCA1, NIPSNAP3B	Single nucleotide variant (intron variant)	Hypoalphalipoproteinemia, primary, 1 +3 more	GBenign
Select item 1246082	NM_005502.4(ABCA1):c.6309-147T>C	ABCA1, NIPSNAP3B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1203585	NM_005502.4(ABCA1):c.6309-215T>G	ABCA1, NIPSNAP3B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1203009	NM_005502.4(ABCA1):c.6308+89C>T	ABCA1, NIPSNAP3B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1261134	NM_005502.4(ABCA1):c.6205-34C>T	ABCA1, NIPSNAP3B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1210622	NM_005502.4(ABCA1):c.6205-39del	ABCA1, NIPSNAP3B	Deletion (intron variant)	not provided	GUncertain significance
Select item 364381	NM_005502.4(ABCA1):c.6183C>T (p.Gly2061=)	ABCA1, NIPSNAP3B	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign
Select item 1289015	NM_005502.4(ABCA1):c.6070-69T>C	ABCA1, NIPSNAP3B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1196576	NM_005502.4(ABCA1):c.6069+75G>A	ABCA1, NIPSNAP3B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1262933	NM_005502.4(ABCA1):c.6069+68T>C	ABCA1, NIPSNAP3B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1264960	NM_005502.4(ABCA1):c.6069+61del	ABCA1, NIPSNAP3B	Deletion (intron variant)	not provided	GBenign
Select item 1241742	NM_005502.4(ABCA1):c.6069+24G>C	ABCA1, NIPSNAP3B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1274636	NM_005502.4(ABCA1):c.5927+279T>C	ABCA1, NIPSNAP3B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1221708	NM_005502.4(ABCA1):c.5927+264T>C	NIPSNAP3B, ABCA1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1257933	NM_005502.4(ABCA1):c.5927+162A>G	ABCA1, NIPSNAP3B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 928662	NM_005502.4(ABCA1):c.5927+18T>C	ABCA1	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 1180858	NM_005502.4(ABCA1):c.5821-169T>A	ABCA1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1261505	NM_005502.4(ABCA1):c.5821-215T>C	ABCA1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1271650	NM_005502.4(ABCA1):c.5820+148G>A	ABCA1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 364385	NM_005502.4(ABCA1):c.5774G>A (p.Arg1925Gln)	ABCA1 (R1925Q)	Single nucleotide variant (missense variant)	Hypoalphalipoproteinemia, primary, 1 +4 more	GConflicting classifications of pathogenicity
Select item 364386	NM_005502.4(ABCA1):c.5763T>C (p.Tyr1921=)	ABCA1	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign
Select item 1294514	NM_005502.4(ABCA1):c.5758-137C>T	ABCA1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1207589	NM_005502.4(ABCA1):c.5758-160G>A	ABCA1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1238421	NM_005502.4(ABCA1):c.5758-242A>G	ABCA1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1249311	NM_005502.4(ABCA1):c.5758-255A>G	ABCA1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1224568	NM_005502.4(ABCA1):c.5757+239A>C	ABCA1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1320555	NM_005502.4(ABCA1):c.5637-4del	ABCA1	Deletion (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 1261334	NM_005502.4(ABCA1):c.5637-119C>T	ABCA1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1262682	NM_005502.4(ABCA1):c.5507-25C>T	ABCA1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1231674	NM_005502.4(ABCA1):c.5507-130G>C	ABCA1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1182140	NM_005502.4(ABCA1):c.5506+252C>T	ABCA1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1179235	NM_005502.4(ABCA1):c.5506+251G>T	ABCA1	Single nucleotide variant (intron variant)	not provided	GBenign
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 364389	NM_005502.4(ABCA1):c.5398A>C (p.Asn1800His)	ABCA1 (N1800H)	Single nucleotide variant (missense variant)	Hypoalphalipoproteinemia, primary, 1 +5 more	GPathogenic/Likely pathogenic
Select item 1287479	NM_005502.4(ABCA1):c.5383-20dup	ABCA1	Duplication (intron variant)	not provided	GBenign
Select item 1188747	NM_005502.4(ABCA1):c.5383-20_5383-16dup	ABCA1	Duplication (intron variant)	not provided	GLikely benign
Select item 928609	NM_005502.4(ABCA1):c.5383-20_5383-19dup	ABCA1	Duplication (intron variant)	not provided +1 more	GBenign
Select item 364391	NM_005502.4(ABCA1):c.5383-20_5383-18dup	ABCA1	Duplication (intron variant)	Familial High Density Lipoprotein Deficiency +4 more	GBenign
Select item 364388	NM_005502.4(ABCA1):c.5383-20_5383-17dup	ABCA1	Duplication (intron variant)	Familial High Density Lipoprotein Deficiency +3 more	GConflicting classifications of pathogenicity
Select item 364390	NM_005502.4(ABCA1):c.5383-3del	ABCA1	Deletion (intron variant)	Familial High Density Lipoprotein Deficiency +3 more	GBenign
Select item 1228085	NM_005502.4(ABCA1):c.5383-167A>C	ABCA1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1301143	NM_005502.4(ABCA1):c.5383-189A>G	ABCA1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1224553	NM_005502.4(ABCA1):c.5382+85T>C	ABCA1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 364392	NM_005502.4(ABCA1):c.5376C>T (p.Thr1792=)	ABCA1	Single nucleotide variant (synonymous variant)	Hypoalphalipoproteinemia, primary, 1 +4 more	GConflicting classifications of pathogenicity
Select item 2506780	NM_005502.4(ABCA1):c.5299T>G (p.Tyr1767Asp)	ABCA1 (Y1767D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1242862	NM_005502.4(ABCA1):c.5122-61T>C	ABCA1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1181453	NM_005502.4(ABCA1):c.5122-216G>C	ABCA1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1285974	NM_005502.4(ABCA1):c.5122-232G>T	ABCA1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1280267	NM_005502.4(ABCA1):c.5122-278G>T	ABCA1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1265681	NM_005502.4(ABCA1):c.5121+278C>G	ABCA1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1183125	NM_005502.4(ABCA1):c.5121+248A>G	ABCA1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1238735	NM_005502.4(ABCA1):c.5121+55T>C	ABCA1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1307314	NM_005502.4(ABCA1):c.5002G>A (p.Val1668Ile)	ABCA1 (V1668I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3370960	NM_005502.4(ABCA1):c.4850A>G (p.Asn1617Ser)	ABCA1 (N1617S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1201152	NM_005502.4(ABCA1):c.4774-54C>T	ABCA1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1215435	NM_005502.4(ABCA1):c.4774-156G>C	ABCA1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1287582	NM_005502.4(ABCA1):c.4773+234C>T	ABCA1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 364398	NM_005502.4(ABCA1):c.4760A>G (p.Lys1587Arg)	ABCA1 (K1587R)	Single nucleotide variant (missense variant)	Hypoalphalipoproteinemia, primary, 1 +3 more	GBenign
Select item 1233476	NM_005502.4(ABCA1):c.4698+258C>T	ABCA1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1297172	NM_005502.4(ABCA1):c.4593-26G>C	ABCA1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1272459	NM_005502.4(ABCA1):c.4593-132_4593-131del	ABCA1	Microsatellite (intron variant)	not provided	GBenign
Select item 1204243	NM_005502.4(ABCA1):c.4593-144C>T	ABCA1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1238496	NM_005502.4(ABCA1):c.4593-236A>G	ABCA1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1185369	NM_005502.4(ABCA1):c.4559+30G>T	ABCA1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 364400	NM_005502.4(ABCA1):c.4536G>T (p.Thr1512=)	ABCA1	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign/Likely benign
Select item 1307119	NM_005502.4(ABCA1):c.4482A>G (p.Ala1494=)	ABCA1	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1198061	NM_005502.4(ABCA1):c.4464+265C>T	ABCA1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1178923	NM_005502.4(ABCA1):c.4464+118GTTTTTT[3]	ABCA1	Microsatellite (intron variant)	not provided	GBenign
Select item 364401	NM_005502.4(ABCA1):c.4440G>T (p.Gly1480=)	ABCA1	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign
Select item 1740603	NM_005502.4(ABCA1):c.4439G>C (p.Gly1480Ala)	ABCA1 (G1480A)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 364402	NM_005502.4(ABCA1):c.4281G>A (p.Thr1427=)	ABCA1	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign
Select item 1191035	NM_005502.4(ABCA1):c.4275-91G>A	ABCA1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1200829	NM_005502.4(ABCA1):c.4275-225A>C	ABCA1	Single nucleotide variant (intron variant)	not provided	GLikely benign

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