Related gene-specific medical variations for Gene (Select 19) - 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 3224776	NM_005502.4(ABCA1):c.6753A>G (p.Leu2251=)	ABCA1, NIPSNAP3B	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
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 3224774	NM_005502.4(ABCA1):c.6697C>G (p.Leu2233Val)	ABCA1, NIPSNAP3B (L2233V)	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 3224771	NM_005502.4(ABCA1):c.6153C>G (p.Arg2051=)	ABCA1, NIPSNAP3B	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 3224752	NM_005502.4(ABCA1):c.4113T>C (p.Phe1371=)	ABCA1, LOC121331340	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 3224751	NM_005502.4(ABCA1):c.4108C>T (p.Pro1370Ser)	ABCA1, LOC121331340 (P1370S)	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 3078691	NM_005502.4(ABCA1):c.6238C>T (p.Arg2080Trp)	ABCA1, NIPSNAP3B (R2080W)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GLikely pathogenic
Select item 3046713	NM_005502.4(ABCA1):c.6205-48G>T	ABCA1, NIPSNAP3B	Single nucleotide variant (intron variant)	ABCA1-related condition	GBenign
Select item 3020056	NM_005502.4(ABCA1):c.6294G>A (p.Val2098=)	ABCA1, NIPSNAP3B	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3018490	NM_005502.4(ABCA1):c.6783A>G (p.Val2261=)	ABCA1, NIPSNAP3B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3007678	NM_005502.4(ABCA1):c.6309-20del	ABCA1, NIPSNAP3B	Deletion (intron variant)	not provided	GLikely benign
Select item 3001899	NM_005502.4(ABCA1):c.6609A>C (p.Ile2203=)	ABCA1, NIPSNAP3B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2997989	NM_005502.4(ABCA1):c.6204+15G>A	ABCA1, NIPSNAP3B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2984632	NM_005502.4(ABCA1):c.6504A>G (p.Leu2168=)	ABCA1, NIPSNAP3B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2976199	NM_005502.4(ABCA1):c.6402-2A>G	ABCA1, NIPSNAP3B	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 2965493	NM_005502.4(ABCA1):c.6204+20G>A	ABCA1, NIPSNAP3B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2888409	NM_005502.4(ABCA1):c.6695A>G (p.Asp2232Gly)	ABCA1, NIPSNAP3B (D2232G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2867448	NM_005502.4(ABCA1):c.-93+3A>G	ABCA1, LOC105376196	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2801472	NM_005502.4(ABCA1):c.6333C>T (p.Cys2111=)	ABCA1, NIPSNAP3B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2780158	NM_005502.4(ABCA1):c.6138T>A (p.Ser2046Arg)	ABCA1, NIPSNAP3B (S2046R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2754441	NM_005502.4(ABCA1):c.6069+9G>A	ABCA1, NIPSNAP3B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2753194	NM_005502.4(ABCA1):c.6699C>T (p.Leu2233=)	ABCA1, NIPSNAP3B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2683058	NM_005502.4(ABCA1):c.6202C>A (p.Leu2068Met)	ABCA1, NIPSNAP3B (L2068M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2665024	NM_005502.4(ABCA1):c.720+3681G>A	ABCA1	Single nucleotide variant (intron variant)	Hypoalphalipoproteinemia, primary, 1	GUncertain significance
Select item 2627928	NM_005502.4(ABCA1):c.5636+1G>A	ABCA1	Single nucleotide variant (splice donor variant)	ABCA1-related dyslipidemia	GPathogenic
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 2614540	NM_005502.4(ABCA1):c.6510G>C (p.Glu2170Asp)	ABCA1, NIPSNAP3B (E2170D)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 2584631	NM_005502.4(ABCA1):c.3462+510A>G	ABCA1	Single nucleotide variant (intron variant)	Tangier disease +1 more	GUncertain significance
Select item 2584607	NM_005502.4(ABCA1):c.2005G>C (p.Glu669Gln)	ABCA1 (E669Q)	Single nucleotide variant (missense variant)	Tangier disease +1 more	GUncertain significance
Select item 2582357	NM_005502.4(ABCA1):c.3124T>C (p.Ser1042Pro)	ABCA1 (S1042P)	Single nucleotide variant (missense variant)	Hypoalphalipoproteinemia, primary, 1 +1 more	GUncertain significance
Select item 2582339	NM_005502.4(ABCA1):c.4993A>G (p.Met1665Val)	ABCA1 (M1665V)	Single nucleotide variant (missense variant)	Hypoalphalipoproteinemia, primary, 1 +1 more	GUncertain significance
Select item 2581558	NM_005502.4(ABCA1):c.*17G>A	ABCA1, NIPSNAP3B	Single nucleotide variant (3 prime UTR variant)	not specified	GUncertain significance
Select item 2581531	NM_005502.4(ABCA1):c.6292G>A (p.Val2098Met)	ABCA1, NIPSNAP3B (V2098M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2581525	NM_005502.4(ABCA1):c.6309-18C>T	ABCA1, NIPSNAP3B	Single nucleotide variant (intron variant)	not specified	GUncertain significance
Select item 2573544	NM_005502.4(ABCA1):c.6068A>C (p.Lys2023Thr)	ABCA1, NIPSNAP3B (K2023T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2568282	NM_005502.4(ABCA1):c.4107A>G (p.Pro1369=)	ABCA1, LOC121331340	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely 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 2502192	NM_005502.4(ABCA1):c.5762A>G (p.Tyr1921Cys)	ABCA1 (Y1921C)	Single nucleotide variant (missense variant)	Tangier disease +1 more	GUncertain significance
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 2501168	NM_005502.4(ABCA1):c.4099A>G (p.Ile1367Val)	ABCA1, LOC121331340 (I1367V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2454054	NM_005502.4(ABCA1):c.4121A>C (p.Tyr1374Ser)	ABCA1, LOC121331340 (Y1374S)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 2454051	NM_005502.4(ABCA1):c.4095C>T (p.Ser1365=)	ABCA1, LOC121331340	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 2454039	NM_005502.4(ABCA1):c.6170T>C (p.Met2057Thr)	ABCA1, NIPSNAP3B (M2057T)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
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 2447508	NM_005502.4(ABCA1):c.6454C>A (p.Leu2152Met)	ABCA1, NIPSNAP3B (L2152M)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
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 2441745	NM_005502.4(ABCA1):c.5785G>T (p.Val1929Phe)	ABCA1 (V1929F)	Single nucleotide variant (missense variant)	Tangier disease +1 more	GUncertain significance
Select item 2438708	NM_005502.4(ABCA1):c.5950G>A (p.Val1984Ile)	ABCA1, NIPSNAP3B (V1984I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2419946	NM_005502.4(ABCA1):c.6518G>A (p.Arg2173Gln)	ABCA1, NIPSNAP3B (R2173Q)	Single nucleotide variant (missense variant)	not provided	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 2159476	NM_005502.4(ABCA1):c.6204G>C (p.Leu2068=)	ABCA1, NIPSNAP3B	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2150644	NM_005502.4(ABCA1):c.5992A>T (p.Thr1998Ser)	ABCA1, NIPSNAP3B (T1998S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2150101	NM_005502.4(ABCA1):c.6449C>T (p.Pro2150Leu)	ABCA1, NIPSNAP3B (P2150L)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2132732	NM_005502.4(ABCA1):c.6198G>A (p.Val2066=)	ABCA1, NIPSNAP3B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2106603	NM_005502.4(ABCA1):c.6546T>G (p.Ser2182=)	ABCA1, NIPSNAP3B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2102595	NM_005502.4(ABCA1):c.6186G>A (p.Gly2062=)	ABCA1, NIPSNAP3B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2101361	NM_005502.4(ABCA1):c.4051-21_4051-16del	ABCA1, LOC121331340	Deletion (intron variant)	not provided	GLikely benign
Select item 2067651	NM_005502.4(ABCA1):c.4126A>G (p.Ser1376Gly)	ABCA1, LOC121331340 (S1376G)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2043561	NM_005502.4(ABCA1):c.6588G>C (p.Gln2196His)	ABCA1, NIPSNAP3B (Q2196H)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 2037838	NM_005502.4(ABCA1):c.6173C>T (p.Ala2058Val)	ABCA1, NIPSNAP3B (A2058V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1969364	NM_005502.4(ABCA1):c.6691A>G (p.Lys2231Glu)	ABCA1, NIPSNAP3B (K2231E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1966152	NM_005502.4(ABCA1):c.6309-12G>A	ABCA1, NIPSNAP3B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1959336	NM_005502.4(ABCA1):c.6401+5T>C	ABCA1, NIPSNAP3B	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1956222	NM_005502.4(ABCA1):c.4124C>A (p.Pro1375His)	ABCA1, LOC121331340 (P1375H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1954239	NM_005502.4(ABCA1):c.6521A>C (p.Asn2174Thr)	ABCA1, NIPSNAP3B (N2174T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1936594	NM_005502.4(ABCA1):c.6308+11A>G	ABCA1, NIPSNAP3B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1925615	NM_005502.4(ABCA1):c.6421A>G (p.Ile2141Val)	ABCA1, NIPSNAP3B (I2141V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1910759	NM_005502.4(ABCA1):c.6486A>G (p.Ala2162=)	ABCA1, NIPSNAP3B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1903085	NM_005502.4(ABCA1):c.5928-14C>T	ABCA1, NIPSNAP3B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1803885	NM_005502.4(ABCA1):c.4539T>A (p.Tyr1513Ter)	ABCA1 (Y1513*)	Single nucleotide variant (nonsense)	Hypoalphalipoproteinemia, primary, 1	GLikely pathogenic
Select item 1803874	NM_005502.4(ABCA1):c.6057A>C (p.Lys2019Asn)	ABCA1, NIPSNAP3B (K2019N)	Single nucleotide variant (missense variant)	Hypoalphalipoproteinemia, primary, 1 +1 more	GUncertain significance
Select item 1803861	NM_005502.4(ABCA1):c.1227C>G (p.Phe409Leu)	ABCA1 (F409L)	Single nucleotide variant (missense variant)	Hypoalphalipoproteinemia, primary, 1 +1 more	GUncertain significance
Select item 1803860	NM_005502.4(ABCA1):c.4464+398C>T	ABCA1	Single nucleotide variant (intron variant)	Hypoalphalipoproteinemia, primary, 1 +1 more	GUncertain significance
Select item 1803827	NM_005502.4(ABCA1):c.844C>T (p.Arg282Ter)	ABCA1 (R282*)	Single nucleotide variant (nonsense)	Hypoalphalipoproteinemia, primary, 1 +1 more	GLikely pathogenic
Select item 1803816	NM_005502.4(ABCA1):c.2995C>T (p.Arg999Cys)	ABCA1 (R999C)	Single nucleotide variant (missense variant)	Hypoalphalipoproteinemia, primary, 1 +1 more	GUncertain significance
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 1755143	NM_005502.4(ABCA1):c.6731T>C (p.Val2244Ala)	ABCA1, NIPSNAP3B (V2244A)	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 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 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 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 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 1752237	NM_005502.4(ABCA1):c.6216C>A (p.Thr2072=)	ABCA1, NIPSNAP3B	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
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 1751846	NM_005502.4(ABCA1):c.6144C>T (p.Gly2048=)	ABCA1, NIPSNAP3B	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign

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