ClinVar for Gene (Select 19) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3270733	NM_005502.4(ABCA1):c.3451T>A (p.Tyr1151Asn)	ABCA1 (Y1151N)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3270634	NM_005502.4(ABCA1):c.811G>A (p.Glu271Lys)	ABCA1 (E271K)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3270532	NM_005502.4(ABCA1):c.994G>C (p.Ala332Pro)	ABCA1 (A332P)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
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 3270351	NM_005502.4(ABCA1):c.1046A>G (p.Asn349Ser)	ABCA1 (N349S)	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 3270174	NM_005502.4(ABCA1):c.4774G>T (p.Val1592Leu)	ABCA1 (V1592L)	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 3269514	NM_005502.4(ABCA1):c.1794T>G (p.Asp598Glu)	ABCA1 (D598E)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3269421	NM_005502.4(ABCA1):c.2251G>C (p.Gly751Arg)	ABCA1 (G751R)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3269324	NM_005502.4(ABCA1):c.3291G>A (p.Leu1097=)	ABCA1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 3269236	NM_005502.4(ABCA1):c.2565C>T (p.Pro855=)	ABCA1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 3269139	NM_005502.4(ABCA1):c.1875C>G (p.Pro625=)	ABCA1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 3269068	NM_005502.4(ABCA1):c.2751T>C (p.Asp917=)	ABCA1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 3268982	NM_005502.4(ABCA1):c.174T>C (p.Asn58=)	ABCA1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 3268881	NM_005502.4(ABCA1):c.5601T>G (p.Thr1867=)	ABCA1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 3268805	NM_005502.4(ABCA1):c.2493C>T (p.Asp831=)	ABCA1	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 3268628	NM_005502.4(ABCA1):c.1500C>T (p.Arg500=)	ABCA1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 3268563	NM_005502.4(ABCA1):c.714A>C (p.Pro238=)	ABCA1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 3268504	NM_005502.4(ABCA1):c.771C>G (p.Ala257=)	ABCA1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 3268418	NM_005502.4(ABCA1):c.63A>C (p.Gln21His)	ABCA1 (Q21H)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3268321	NM_005502.4(ABCA1):c.333G>A (p.Arg111=)	ABCA1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 3268223	NM_005502.4(ABCA1):c.4503A>G (p.Thr1501=)	ABCA1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 3268124	NM_005502.4(ABCA1):c.4809C>T (p.Ser1603=)	ABCA1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 3268027	NM_005502.4(ABCA1):c.740C>T (p.Ser247Phe)	ABCA1 (S247F)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3267829	NM_005502.4(ABCA1):c.8G>A (p.Cys3Tyr)	ABCA1 (C3Y)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3257506	NM_005502.4(ABCA1):c.2611G>T (p.Asp871Tyr)	ABCA1 (D871Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3256126	NM_005502.4(ABCA1):c.2302C>T (p.Gln768Ter)	ABCA1 (Q768*)	Single nucleotide variant (nonsense)	Tangier disease	GPathogenic
Select item 3224780	NM_005502.4(ABCA1):c.782T>G (p.Leu261Trp)	ABCA1 (L261W)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3224779	NM_005502.4(ABCA1):c.704T>C (p.Ile235Thr)	ABCA1 (I235T)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3224778	NM_005502.4(ABCA1):c.702C>T (p.Asp234=)	ABCA1	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 3224769	NM_005502.4(ABCA1):c.5895T>A (p.Val1965=)	ABCA1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
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 3224767	NM_005502.4(ABCA1):c.5307G>A (p.Val1769=)	ABCA1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 3224766	NM_005502.4(ABCA1):c.5286C>A (p.Ile1762=)	ABCA1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 3224765	NM_005502.4(ABCA1):c.5261A>G (p.Tyr1754Cys)	ABCA1 (Y1754C)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3224764	NM_005502.4(ABCA1):c.5100C>T (p.Leu1700=)	ABCA1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 3224763	NM_005502.4(ABCA1):c.502A>G (p.Thr168Ala)	ABCA1 (T168A)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3224762	NM_005502.4(ABCA1):c.5020G>T (p.Val1674Leu)	ABCA1 (V1674L)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3224761	NM_005502.4(ABCA1):c.4945A>T (p.Met1649Leu)	ABCA1 (M1649L)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3224760	NM_005502.4(ABCA1):c.4908G>A (p.Leu1636=)	ABCA1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 3224759	NM_005502.4(ABCA1):c.4623T>C (p.Asn1541=)	ABCA1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 3224758	NM_005502.4(ABCA1):c.4449G>T (p.Gly1483=)	ABCA1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 3224757	NM_005502.4(ABCA1):c.4449G>A (p.Gly1483=)	ABCA1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 3224756	NM_005502.4(ABCA1):c.4356G>C (p.Gly1452=)	ABCA1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 3224755	NM_005502.4(ABCA1):c.4318C>T (p.Pro1440Ser)	ABCA1 (P1440S)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3224753	NM_005502.4(ABCA1):c.4209A>G (p.Glu1403=)	ABCA1	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 3224750	NM_005502.4(ABCA1):c.364A>T (p.Met122Leu)	ABCA1 (M122L)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3224749	NM_005502.4(ABCA1):c.3615C>T (p.Thr1205=)	ABCA1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 3224748	NM_005502.4(ABCA1):c.3497G>A (p.Gly1166Asp)	ABCA1 (G1166D)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3224747	NM_005502.4(ABCA1):c.3389T>C (p.Leu1130Ser)	ABCA1 (L1130S)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3224746	NM_005502.4(ABCA1):c.3308T>C (p.Ile1103Thr)	ABCA1 (I1103T)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3224745	NM_005502.4(ABCA1):c.3288C>A (p.Val1096=)	ABCA1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 3224744	NM_005502.4(ABCA1):c.3276T>C (p.Asp1092=)	ABCA1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 3224743	NM_005502.4(ABCA1):c.3061T>C (p.Leu1021=)	ABCA1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 3224742	NM_005502.4(ABCA1):c.2937C>G (p.Pro979=)	ABCA1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 3224741	NM_005502.4(ABCA1):c.2889C>T (p.Asp963=)	ABCA1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 3224740	NM_005502.4(ABCA1):c.2833A>G (p.Ile945Val)	ABCA1 (I945V)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3224739	NM_005502.4(ABCA1):c.2657T>C (p.Ile886Thr)	ABCA1 (I886T)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3224738	NM_005502.4(ABCA1):c.2557C>A (p.Pro853Thr)	ABCA1 (P853T)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3224737	NM_005502.4(ABCA1):c.2304G>T (p.Gln768His)	ABCA1 (Q768H)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3224736	NM_005502.4(ABCA1):c.2265C>T (p.Phe755=)	ABCA1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 3224735	NM_005502.4(ABCA1):c.2253C>T (p.Gly751=)	ABCA1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 3224734	NM_005502.4(ABCA1):c.2238A>G (p.Ala746=)	ABCA1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 3224733	NM_005502.4(ABCA1):c.2138G>A (p.Ser713Asn)	ABCA1 (S713N)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3224732	NM_005502.4(ABCA1):c.2109C>A (p.Ile703=)	ABCA1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 3224731	NM_005502.4(ABCA1):c.1998G>A (p.Arg666=)	ABCA1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 3224730	NM_005502.4(ABCA1):c.1768dup (p.Trp590fs)	ABCA1 (W590fs)	Duplication (frameshift variant)	Cardiovascular phenotype	GPathogenic
Select item 3224729	NM_005502.4(ABCA1):c.1737A>T (p.Arg579=)	ABCA1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 3224728	NM_005502.4(ABCA1):c.1541C>T (p.Ala514Val)	ABCA1 (A514V)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3224727	NM_005502.4(ABCA1):c.1125G>A (p.Leu375=)	ABCA1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
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 3078654	NM_005502.4(ABCA1):c.5839G>A (p.Val1947Ile)	ABCA1 (V1947I)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3078558	NM_005502.4(ABCA1):c.5347G>A (p.Val1783Met)	ABCA1 (V1783M)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3078426	NM_005502.4(ABCA1):c.4980T>G (p.Cys1660Trp)	ABCA1 (C1660W)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3078283	NM_005502.4(ABCA1):c.4382C>T (p.Pro1461Leu)	ABCA1 (P1461L)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3078184	NM_005502.4(ABCA1):c.3815G>T (p.Arg1272Met)	ABCA1 (R1272M)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3078127	NM_005502.4(ABCA1):c.3671A>G (p.Glu1224Gly)	ABCA1 (E1224G)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3077984	NM_005502.4(ABCA1):c.323A>G (p.Asp108Gly)	ABCA1 (D108G)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3077948	NM_005502.4(ABCA1):c.3103+5G>A	ABCA1	Single nucleotide variant (intron variant)	Cardiovascular phenotype	GUncertain significance
Select item 3077911	NM_005502.4(ABCA1):c.3103+4C>T	ABCA1	Single nucleotide variant (intron variant)	Cardiovascular phenotype	GUncertain significance
Select item 3077862	NM_005502.4(ABCA1):c.3042G>C (p.Gln1014His)	ABCA1 (Q1014H)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3077695	NM_005502.4(ABCA1):c.2851C>T (p.Pro951Ser)	ABCA1 (P951S)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3077562	NM_005502.4(ABCA1):c.2210G>A (p.Ser737Asn)	ABCA1 (S737N)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3077445	NM_005502.4(ABCA1):c.1709A>G (p.Lys570Arg)	ABCA1 (K570R)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3077376	NM_005502.4(ABCA1):c.1384G>A (p.Asp462Asn)	ABCA1 (D462N)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3063714	NM_005502.4(ABCA1):c.3103+1G>C	ABCA1	Single nucleotide variant (splice donor variant)	Tangier disease	GLikely pathogenic
Select item 3063071	GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020389)x3	ABCA1, ABCA2 +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

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