ClinVar for Gene (Select 55335) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3366455	NM_005502.4(ABCA1):c.6190C>T (p.Pro2064Ser)	ABCA1, NIPSNAP3B (P2064S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3339299	NM_005502.4(ABCA1):c.6000G>A (p.Leu2000=)	ABCA1, NIPSNAP3B	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3270448	NM_005502.4(ABCA1):c.6070G>T (p.Val2024Phe)	ABCA1, NIPSNAP3B (V2024F)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3270267	NM_005502.4(ABCA1):c.6724G>C (p.Val2242Leu)	ABCA1, NIPSNAP3B (V2242L)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3269611	NM_005502.4(ABCA1):c.6327T>G (p.Ala2109=)	ABCA1, NIPSNAP3B	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 3268744	NM_005502.4(ABCA1):c.6441G>A (p.Gly2147=)	ABCA1, NIPSNAP3B	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
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 3200206	NM_018376.4(NIPSNAP3B):c.587T>C (p.Val196Ala)	NIPSNAP3B (V196A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3200205	NM_018376.4(NIPSNAP3B):c.544G>A (p.Gly182Ser)	NIPSNAP3B (G182S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3200204	NM_018376.4(NIPSNAP3B):c.377C>T (p.Thr126Met)	NIPSNAP3B (T126M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3200203	NM_018376.4(NIPSNAP3B):c.343A>G (p.Ile115Val)	NIPSNAP3B (I115V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3200202	NM_018376.4(NIPSNAP3B):c.290C>A (p.Ala97Asp)	NIPSNAP3B (A97D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3200201	NM_018376.4(NIPSNAP3B):c.152C>T (p.Ala51Val)	NIPSNAP3B (A51V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3078740	NM_005502.4(ABCA1):c.6712A>T (p.Asn2238Tyr)	ABCA1, NIPSNAP3B (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 3063071	GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020389)x3	DMAC1, DMRT1 +769 more	Copy number gain	not specified	GPathogenic
Select item 3063058	GRCh37/hg19 9q31.1-31.2(chr9:102606857-109839724)x1	ABCA1, ALDOB +34 more	Copy number loss	not specified	GPathogenic
Select item 3046713	NM_005502.4(ABCA1):c.6205-48G>T	ABCA1, NIPSNAP3B	Single nucleotide variant (intron variant)	ABCA1-related disorder	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 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 2671591	Single allele	CARD19, MIR24-1 +106 more	Deletion	not provided	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 2598076	NM_018376.4(NIPSNAP3B):c.34C>T (p.Leu12Phe)	LOC130002268, NIPSNAP3B (L12F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2595301	NM_018376.4(NIPSNAP3B):c.89G>C (p.Arg30Thr)	NIPSNAP3B (R30T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2591431	NM_018376.4(NIPSNAP3B):c.299G>A (p.Arg100Gln)	NIPSNAP3B (R100Q)	Single nucleotide variant (missense variant +1 more)	not specified	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 2579281	GRCh38/hg38 9q31.1-31.3(chr9:102995214-108903040)x1	ABCA1, ACTL7A +109 more	Copy number loss	Weiss-Kruszka syndrome	GPathogenic
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 2569211	NM_018376.4(NIPSNAP3B):c.97G>A (p.Asp33Asn)	NIPSNAP3B (D33N)	Single nucleotide variant (missense variant +1 more)	not specified	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 2540063	NM_018376.4(NIPSNAP3B):c.676A>G (p.Ser226Gly)	NIPSNAP3B (S226G)	Single nucleotide variant (missense variant +1 more)	not specified	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 2499098	NM_005502.4(ABCA1):c.6768G>A (p.Val2256=)	ABCA1, NIPSNAP3B	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GBenign/Likely benign
Select item 2494546	NM_018376.4(NIPSNAP3B):c.386C>T (p.Thr129Ile)	NIPSNAP3B (T129I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2492071	NM_018376.4(NIPSNAP3B):c.289G>C (p.Ala97Pro)	NIPSNAP3B (A97P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2479484	NM_018376.4(NIPSNAP3B):c.463C>G (p.Pro155Ala)	NIPSNAP3B (P155A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
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 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 2405891	NM_018376.4(NIPSNAP3B):c.258T>A (p.His86Gln)	NIPSNAP3B (H86Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2394378	NM_018376.4(NIPSNAP3B):c.545G>C (p.Gly182Ala)	NIPSNAP3B (G182A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
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 2293963	NM_018376.4(NIPSNAP3B):c.230T>C (p.Phe77Ser)	NIPSNAP3B (F77S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2237318	NM_018376.4(NIPSNAP3B):c.392T>C (p.Leu131Pro)	NIPSNAP3B (L131P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2209794	NM_018376.4(NIPSNAP3B):c.359G>A (p.Arg120His)	NIPSNAP3B (R120H)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
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 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 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 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 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)	Cardiovascular phenotype +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

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