"Ambry Genetics"[submitter] AND "ABCA1"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3224777	NM_005502.4(ABCA1):c.6771A>G (p.Lys2257=)	ABCA1, NIPSNAP3B	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 2499098	NM_005502.4(ABCA1):c.6768G>A (p.Val2256=)	ABCA1, NIPSNAP3B	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 1755312	NM_005502.4(ABCA1):c.6760G>A (p.Glu2254Lys)	ABCA1, NIPSNAP3B (E2254K)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3224776	NM_005502.4(ABCA1):c.6753A>G (p.Leu2251=)	ABCA1, NIPSNAP3B	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 1655975	NM_005502.4(ABCA1):c.6747T>C (p.Ser2249=)	ABCA1, NIPSNAP3B	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2625012	NM_005502.4(ABCA1):c.6744A>G (p.Thr2248=)	ABCA1, NIPSNAP3B	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 2454041	NM_005502.4(ABCA1):c.6743C>A (p.Thr2248Lys)	ABCA1, NIPSNAP3B (T2248K)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1755143	NM_005502.4(ABCA1):c.6731T>C (p.Val2244Ala)	ABCA1, NIPSNAP3B (V2244A)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3224775	NM_005502.4(ABCA1):c.6729C>T (p.Asp2243=)	ABCA1, NIPSNAP3B	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 364377	NM_005502.4(ABCA1):c.6729C>A (p.Asp2243Glu)	ABCA1, NIPSNAP3B (D2243E)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +4 more	GBenign/Likely benign
Select item 2553516	NM_005502.4(ABCA1):c.6721G>A (p.Val2241Ile)	ABCA1, NIPSNAP3B (V2241I)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3078740	NM_005502.4(ABCA1):c.6712A>T (p.Asn2238Tyr)	NIPSNAP3B, ABCA1 (N2238Y)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1755016	NM_005502.4(ABCA1):c.6705A>G (p.Leu2235=)	ABCA1, NIPSNAP3B	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 1755011	NM_005502.4(ABCA1):c.6701C>T (p.Ser2234Leu)	ABCA1, NIPSNAP3B (S2234L)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 3224774	NM_005502.4(ABCA1):c.6697C>G (p.Leu2233Val)	ABCA1, NIPSNAP3B (L2233V)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1754860	NM_005502.4(ABCA1):c.6681T>A (p.Asp2227Glu)	NIPSNAP3B, ABCA1 (D2227E)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1754709	NM_005502.4(ABCA1):c.6654G>C (p.Val2218=)	NIPSNAP3B, ABCA1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 1754440	NM_005502.4(ABCA1):c.6607A>G (p.Ile2203Val)	ABCA1, NIPSNAP3B (I2203V)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3224772	NM_005502.4(ABCA1):c.6597G>A (p.Lys2199=)	ABCA1, NIPSNAP3B	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 2447507	NM_005502.4(ABCA1):c.6591C>A (p.Ser2197Arg)	ABCA1, NIPSNAP3B (S2197R)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1694003	NM_005502.4(ABCA1):c.6557C>T (p.Ser2186Phe)	ABCA1, NIPSNAP3B (S2186F)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 1208444	NM_005502.4(ABCA1):c.6555T>G (p.Ser2185=)	ABCA1, NIPSNAP3B	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +2 more	GBenign/Likely benign
Select item 1666329	NM_005502.4(ABCA1):c.6552A>G (p.Leu2184=)	ABCA1, NIPSNAP3B	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GLikely benign
Select item 1754049	NM_005502.4(ABCA1):c.6526C>A (p.Leu2176Ile)	ABCA1, NIPSNAP3B (L2176I)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1753984	NM_005502.4(ABCA1):c.6517C>A (p.Arg2173=)	ABCA1, NIPSNAP3B	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 2614540	NM_005502.4(ABCA1):c.6510G>C (p.Glu2170Asp)	ABCA1, NIPSNAP3B (E2170D)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 2447508	NM_005502.4(ABCA1):c.6454C>A (p.Leu2152Met)	ABCA1, NIPSNAP3B (L2152M)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	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 1753574	NM_005502.4(ABCA1):c.6447C>T (p.Asn2149=)	ABCA1, NIPSNAP3B	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1753397	NM_005502.4(ABCA1):c.6412G>A (p.Gly2138Ser)	ABCA1, NIPSNAP3B (G2138S)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1753146	NM_005502.4(ABCA1):c.6379A>G (p.Ser2127Gly)	ABCA1, NIPSNAP3B (S2127G)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1753134	NM_005502.4(ABCA1):c.6375T>G (p.Leu2125=)	ABCA1, NIPSNAP3B	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 1753019	NM_005502.4(ABCA1):c.6354C>T (p.Val2118=)	ABCA1, NIPSNAP3B	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 1698640	NM_005502.4(ABCA1):c.6346A>G (p.Ile2116Val)	ABCA1, NIPSNAP3B (I2116V)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 1561476	NM_005502.4(ABCA1):c.6309-4G>A	ABCA1, NIPSNAP3B	Single nucleotide variant (intron variant)	Cardiovascular phenotype +2 more	GConflicting classifications of pathogenicity
Select item 1752754	NM_005502.4(ABCA1):c.6306T>C (p.His2102=)	ABCA1, NIPSNAP3B	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 1752735	NM_005502.4(ABCA1):c.6302C>G (p.Ser2101Cys)	ABCA1, NIPSNAP3B (S2101C)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1752509	NM_005502.4(ABCA1):c.6264A>G (p.Leu2088=)	ABCA1, NIPSNAP3B	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 3078691	NM_005502.4(ABCA1):c.6238C>T (p.Arg2080Trp)	ABCA1, NIPSNAP3B (R2080W)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GLikely pathogenic
Select item 1752237	NM_005502.4(ABCA1):c.6216C>A (p.Thr2072=)	ABCA1, NIPSNAP3B	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
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 1752072	NM_005502.4(ABCA1):c.6180C>T (p.Ile2060=)	ABCA1, NIPSNAP3B	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 2454039	NM_005502.4(ABCA1):c.6170T>C (p.Met2057Thr)	ABCA1, NIPSNAP3B (M2057T)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3224771	NM_005502.4(ABCA1):c.6153C>G (p.Arg2051=)	ABCA1, NIPSNAP3B	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 1751846	NM_005502.4(ABCA1):c.6144C>T (p.Gly2048=)	ABCA1, NIPSNAP3B	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 2502190	NM_005502.4(ABCA1):c.6113G>A (p.Gly2038Glu)	ABCA1, NIPSNAP3B (G2038E)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 1751645	NM_005502.4(ABCA1):c.6105G>A (p.Val2035=)	ABCA1, NIPSNAP3B	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 1562948	NM_005502.4(ABCA1):c.6102C>T (p.Leu2034=)	ABCA1, NIPSNAP3B	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GLikely benign
Select item 1751531	NM_005502.4(ABCA1):c.6096G>T (p.Leu2032=)	ABCA1, NIPSNAP3B	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 1751470	NM_005502.4(ABCA1):c.6084G>A (p.Ala2028=)	ABCA1, NIPSNAP3B	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1751416	NM_005502.4(ABCA1):c.6077A>G (p.Glu2026Gly)	ABCA1, NIPSNAP3B (E2026G)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1585808	NM_005502.4(ABCA1):c.6048C>T (p.Val2016=)	ABCA1, NIPSNAP3B	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2299205	NM_005502.4(ABCA1):c.6034C>G (p.Leu2012Val)	ABCA1, NIPSNAP3B (L2012V)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 992256	NM_005502.4(ABCA1):c.6018C>T (p.His2006=)	ABCA1, NIPSNAP3B	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +2 more	GBenign/Likely benign
Select item 1751037	NM_005502.4(ABCA1):c.6004A>C (p.Thr2002Pro)	NIPSNAP3B, ABCA1 (T2002P)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1751034	NM_005502.4(ABCA1):c.6003G>C (p.Leu2001Phe)	ABCA1, NIPSNAP3B (L2001F)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1750923	NM_005502.4(ABCA1):c.5997G>A (p.Glu1999=)	ABCA1, NIPSNAP3B	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 2454036	NM_005502.4(ABCA1):c.5987C>A (p.Ala1996Asp)	ABCA1, NIPSNAP3B (A1996D)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1750528	NM_005502.4(ABCA1):c.5925T>C (p.Asn1975=)	ABCA1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 1403986	NM_005502.4(ABCA1):c.5924A>T (p.Asn1975Ile)	ABCA1 (N1975I)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2568289	NM_005502.4(ABCA1):c.5912T>C (p.Phe1971Ser)	ABCA1 (F1971S)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3224769	NM_005502.4(ABCA1):c.5895T>A (p.Val1965=)	ABCA1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 3078654	NM_005502.4(ABCA1):c.5839G>A (p.Val1947Ile)	ABCA1 (V1947I)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1749782	NM_005502.4(ABCA1):c.5800G>A (p.Val1934Met)	ABCA1 (V1934M)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GConflicting classifications of pathogenicity
Select item 1749692	NM_005502.4(ABCA1):c.5799C>T (p.Cys1933=)	ABCA1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GLikely benign
Select item 364385	NM_005502.4(ABCA1):c.5774G>A (p.Arg1925Gln)	ABCA1 (R1925Q)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 364386	NM_005502.4(ABCA1):c.5763T>C (p.Tyr1921=)	ABCA1	Single nucleotide variant (synonymous variant)	Tangier disease +3 more	GBenign
Select item 1749493	NM_005502.4(ABCA1):c.5761T>C (p.Tyr1921His)	ABCA1 (Y1921H)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 1749448	NM_005502.4(ABCA1):c.5754G>A (p.Thr1918=)	ABCA1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 1590698	NM_005502.4(ABCA1):c.5747A>C (p.Glu1916Ala)	ABCA1 (E1916A)	Single nucleotide variant (missense variant)	ABCA1-related condition +2 more	GBenign/Likely benign
Select item 1749259	NM_005502.4(ABCA1):c.5715T>G (p.Gly1905=)	ABCA1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 2568285	NM_005502.4(ABCA1):c.5709T>C (p.Leu1903=)	ABCA1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 496295	NM_005502.4(ABCA1):c.5690G>A (p.Arg1897Gln)	ABCA1 (R1897Q)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1748887	NM_005502.4(ABCA1):c.5655A>G (p.Leu1885=)	ABCA1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +3 more	GLikely benign
Select item 1748885	NM_005502.4(ABCA1):c.5655A>C (p.Leu1885=)	ABCA1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 914263	NM_005502.4(ABCA1):c.5649A>G (p.Ala1883=)	ABCA1	Single nucleotide variant (synonymous variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 2484954	NM_005502.4(ABCA1):c.5641G>A (p.Val1881Ile)	ABCA1 (V1881I)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1320555	NM_005502.4(ABCA1):c.5637-4del	ABCA1	Deletion (intron variant)	Cardiovascular phenotype +1 more	GBenign/Likely benign
Select item 2113339	NM_005502.4(ABCA1):c.5628C>T (p.Ile1876=)	ABCA1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GLikely benign
Select item 1748632	NM_005502.4(ABCA1):c.5610C>A (p.Ile1870=)	ABCA1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 1748601	NM_005502.4(ABCA1):c.5606T>G (p.Leu1869Arg)	ABCA1 (L1869R)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1748509	NM_005502.4(ABCA1):c.5595C>T (p.Leu1865=)	ABCA1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1748374	NM_005502.4(ABCA1):c.5571C>T (p.Ala1857=)	ABCA1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 1748333	NM_005502.4(ABCA1):c.5565C>T (p.Ala1855=)	ABCA1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 1378054	NM_005502.4(ABCA1):c.5563G>T (p.Ala1855Ser)	ABCA1 (A1855S)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 1748319	NM_005502.4(ABCA1):c.5562C>T (p.Phe1854=)	ABCA1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 1748094	NM_005502.4(ABCA1):c.5526A>G (p.Ser1842=)	ABCA1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 1748084	NM_005502.4(ABCA1):c.5520T>C (p.Phe1840=)	ABCA1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 1747881	NM_005502.4(ABCA1):c.5496G>A (p.Leu1832=)	ABCA1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 1747866	NM_005502.4(ABCA1):c.5493C>G (p.Ala1831=)	ABCA1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 1329701	NM_005502.4(ABCA1):c.5492C>T (p.Ala1831Val)	ABCA1 (A1831V)	Single nucleotide variant (missense variant)	Hypoalphalipoproteinemia, primary, 1 +3 more	GConflicting classifications of pathogenicity
Select item 1747761	NM_005502.4(ABCA1):c.5475C>A (p.Asn1825Lys)	ABCA1 (N1825K)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1747748	NM_005502.4(ABCA1):c.5470A>G (p.Lys1824Glu)	ABCA1 (K1824E)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1747702	NM_005502.4(ABCA1):c.5468T>G (p.Val1823Gly)	ABCA1 (V1823G)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1747684	NM_005502.4(ABCA1):c.5464A>G (p.Met1822Val)	ABCA1 (M1822V)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3224768	NM_005502.4(ABCA1):c.5450G>A (p.Arg1817Gln)	ABCA1 (R1817Q)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1747390	NM_005502.4(ABCA1):c.5415C>T (p.Ser1805=)	ABCA1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GLikely benign
Select item 1660056	NM_005502.4(ABCA1):c.5406C>T (p.Ile1802=)	ABCA1	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 1579804	NM_005502.4(ABCA1):c.5406C>A (p.Ile1802=)	ABCA1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 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 +6 more	GPathogenic/Likely pathogenic

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