ClinVar for Gene (Select 335) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3306910	NM_000039.3(APOA1):c.634A>G (p.Arg212Gly)	APOA1 (R103G +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3306899	NM_000039.3(APOA1):c.564C>T (p.Ala188=)	APOA1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 3306890	NM_000039.3(APOA1):c.409G>A (p.Glu137Lys)	APOA1, APOA1-AS (E28K +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 3306880	NM_000039.3(APOA1):c.431A>G (p.Glu144Gly)	APOA1, APOA1-AS (E144G +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 3306869	NM_000039.3(APOA1):c.59A>G (p.His20Arg)	APOA1, APOA1-AS (H20R)	Single nucleotide variant (missense variant +2 more)	Cardiovascular phenotype	GUncertain significance
Select item 3244708	NC_000011.9:g.(?_116660844)_(116707147_?)dup	APOA1, APOA4 +2 more	Duplication	not provided	GUncertain significance
Select item 3244707	NC_000011.9:g.(?_116662282)_(116708103_?)dup	APOA1, APOA4 +2 more	Duplication	not provided	GUncertain significance
Select item 3244706	NC_000011.9:g.(?_116691583)_(116708103_?)del	APOA1, APOA4 +1 more	Deletion	not provided	GPathogenic
Select item 3236478	NM_000039.3(APOA1):c.478G>T (p.Glu160Ter)	APOA1, APOA1-AS (E145* +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Hypoalphalipoproteinemia, primary, 2, intermediate	GPathogenic
Select item 3235072	NM_000039.3(APOA1):c.254G>C (p.Arg85Pro)	APOA1, APOA1-AS (R85P)	Single nucleotide variant (missense variant)	Hypoalphalipoproteinemia, primary, 2	GUncertain significance
Select item 3231952	NM_000039.3(APOA1):c.790C>G (p.Leu264Val)	APOA1 (L155V +2 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3231950	NM_000039.3(APOA1):c.789G>T (p.Lys263Asn)	APOA1 (K154N +2 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3231949	NM_000039.3(APOA1):c.769C>T (p.Leu257Phe)	APOA1 (L148F +2 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3231946	NM_000039.3(APOA1):c.693C>G (p.Ala231=)	APOA1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 3231944	NM_000039.3(APOA1):c.629G>A (p.Gly210Asp)	APOA1 (G101D +2 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3231943	NM_000039.3(APOA1):c.627C>T (p.Gly209=)	APOA1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 3231941	NM_000039.3(APOA1):c.562G>A (p.Ala188Thr)	APOA1 (A173T +2 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3231937	NM_000039.3(APOA1):c.534C>G (p.Ala178=)	APOA1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 3231928	NM_000039.3(APOA1):c.42G>A (p.Thr14=)	APOA1, APOA1-AS	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 3231920	NM_000039.3(APOA1):c.297G>C (p.Leu99=)	APOA1, APOA1-AS	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 3231915	NM_000039.3(APOA1):c.279G>C (p.Gln93His)	APOA1, APOA1-AS (Q93H)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3231914	NM_000039.3(APOA1):c.271G>A (p.Val91Met)	APOA1, APOA1-AS (V91M)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3231910	NM_000039.3(APOA1):c.267C>A (p.Gly89=)	APOA1, APOA1-AS	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 3231907	NM_000039.3(APOA1):c.176G>A (p.Gly59Asp)	APOA1, APOA1-AS (G59D)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3148862	GRCh37/hg19 11q23.3-25(chr11:116683755-134937416)x3	ABCG4, ACAD8 +177 more	Copy number gain	not provided	GPathogenic
Select item 3127887	NM_000039.3(APOA1):c.79C>T (p.Pro27Ser)	APOA1, APOA1-AS (P27S)	Single nucleotide variant (missense variant +2 more)	Cardiovascular phenotype	GUncertain significance
Select item 3127886	NM_000039.3(APOA1):c.532_533del (p.Ala178fs)	APOA1 (A178fs +1 more)	Microsatellite (frameshift variant)	Cardiovascular phenotype	GLikely pathogenic
Select item 3030577	NM_000039.3(APOA1):c.563C>T (p.Ala188Val)	APOA1 (A173V +2 more)	Single nucleotide variant (missense variant)	APOA1-related disorder	GUncertain significance
Select item 3022247	NM_000039.3(APOA1):c.420C>T (p.Arg140=)	APOA1, APOA1-AS	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 3012795	NM_000039.3(APOA1):c.489G>C (p.Glu163Asp)	APOA1, APOA1-AS (E148D +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 3007086	NM_000039.3(APOA1):c.308C>T (p.Thr103Ile)	APOA1, APOA1-AS (T103I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3005790	NM_000039.3(APOA1):c.200+18G>A	APOA1, APOA1-AS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3004131	NM_000039.3(APOA1):c.11C>A (p.Ala4Glu)	APOA1, APOA1-AS (A4E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3002347	NM_000039.3(APOA1):c.391_392delinsTG (p.Lys131Trp)	APOA1, APOA1-AS (K131W +1 more)	Indel (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2998246	NM_000039.3(APOA1):c.298G>C (p.Glu100Gln)	APOA1, APOA1-AS (E100Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2991021	NM_000039.3(APOA1):c.91C>T (p.Pro31Ser)	APOA1, APOA1-AS (P31S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2987072	NM_000039.3(APOA1):c.503T>C (p.Leu168Pro)	APOA1 (L168P +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2986425	NM_000039.3(APOA1):c.471G>C (p.Lys157Asn)	APOA1, APOA1-AS (K48N +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2985998	NM_000039.3(APOA1):c.91C>G (p.Pro31Ala)	APOA1, APOA1-AS (P31A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2979720	NM_000039.3(APOA1):c.544G>A (p.Ala182Thr)	APOA1 (A182T +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2976950	NM_000039.3(APOA1):c.200+7A>T	APOA1, APOA1-AS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2964007	NM_000039.3(APOA1):c.436C>T (p.Leu146=)	APOA1, APOA1-AS	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2956739	NM_000039.3(APOA1):c.195G>A (p.Gln65=)	APOA1, APOA1-AS	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2917009	NM_000039.3(APOA1):c.261G>T (p.Gln87His)	APOA1, APOA1-AS (Q87H)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2915469	NM_000039.3(APOA1):c.409G>T (p.Glu137Ter)	APOA1, APOA1-AS (E28* +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2880958	NM_000039.3(APOA1):c.690G>A (p.Lys230=)	APOA1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2872293	NM_000039.3(APOA1):c.497G>C (p.Ser166Thr)	APOA1 (S57T +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2868047	NM_000039.3(APOA1):c.777G>A (p.Glu259=)	APOA1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2867498	NM_000039.3(APOA1):c.512A>T (p.Glu171Val)	APOA1 (E171V +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2866850	NM_000039.3(APOA1):c.496A>G (p.Ser166Gly)	APOA1 (S151G +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2850625	NM_000039.3(APOA1):c.520G>A (p.Asp174Asn)	APOA1 (D159N +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2849555	NM_000039.3(APOA1):c.143A>G (p.Asp48Gly)	APOA1, APOA1-AS (D48G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2843554	NM_000039.3(APOA1):c.49C>A (p.Gln17Lys)	APOA1, APOA1-AS (Q17K)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2836028	NM_000039.3(APOA1):c.114G>C (p.Leu38=)	APOA1, APOA1-AS	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2829433	NM_000039.3(APOA1):c.761T>G (p.Leu254Arg)	APOA1 (L145R +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2827883	NM_000039.3(APOA1):c.301A>G (p.Lys101Glu)	APOA1, APOA1-AS (K101E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2819693	NM_000039.3(APOA1):c.75T>G (p.Asp25Glu)	APOA1, APOA1-AS (D25E)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2809567	NM_000039.3(APOA1):c.551_564dup (p.Pro189fs)	APOA1 (P189fs +1 more)	Duplication (frameshift variant)	not provided	GUncertain significance
Select item 2808039	NM_000039.3(APOA1):c.621G>C (p.Glu207Asp)	APOA1 (E207D +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2782640	NM_000039.3(APOA1):c.280G>A (p.Glu94Lys)	APOA1, APOA1-AS (E94K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2780236	NM_000039.3(APOA1):c.56G>A (p.Arg19Gln)	APOA1, APOA1-AS (R19Q)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2780235	NM_000039.3(APOA1):c.523C>T (p.Arg175Cys)	APOA1 (R175C +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2777266	NM_000039.3(APOA1):c.508G>T (p.Glu170Ter)	APOA1 (E170* +2 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2755101	NM_000039.3(APOA1):c.201-1G>C	APOA1, APOA1-AS	Single nucleotide variant (splice acceptor variant)	not provided	GUncertain significance
Select item 2735761	NM_000039.3(APOA1):c.392A>T (p.Lys131Met)	APOA1, APOA1-AS (K22M +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2735760	NM_000039.3(APOA1):c.494T>G (p.Leu165Arg)	APOA1, APOA1-AS (L150R +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GPathogenic
Select item 2735759	NM_000039.3(APOA1):c.548T>C (p.Leu183Pro)	APOA1 (L168P +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2724538	NM_000039.3(APOA1):c.279G>A (p.Gln93=)	APOA1, APOA1-AS	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2711000	NM_000039.3(APOA1):c.711C>T (p.Asp237=)	APOA1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2702220	NM_000039.3(APOA1):c.658G>C (p.Ala220Pro)	APOA1 (A111P +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2685425	GRCh37/hg19 11q23.3(chr11:116681008-116826215)x1	APOA1, APOA4 +2 more	Copy number loss	not provided	GUncertain significance
Select item 2684656	GRCh37/hg19 11q23.3(chr11:115182164-116759502)x3	APOA1, APOA4 +6 more	Copy number gain	not provided	GUncertain significance
Select item 2671625	Single allele	AASDHPPT, ABCG4 +275 more	Duplication	not provided	GPathogenic
Select item 2642398	NM_000039.3(APOA1):c.491A>G (p.Lys164Arg)	APOA1, APOA1-AS (K149R +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2624796	NM_000039.3(APOA1):c.485A>C (p.Gln162Pro)	APOA1, APOA1-AS (Q53P +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +1 more	GUncertain significance
Select item 2586723	NM_000039.3(APOA1):c.57G>T (p.Arg19=)	APOA1, APOA1-AS	Single nucleotide variant (synonymous variant +2 more)	Cardiovascular phenotype	GLikely benign
Select item 2586722	NM_000039.3(APOA1):c.494T>C (p.Leu165Pro)	APOA1, APOA1-AS (L165P +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 2578141	NM_000039.3(APOA1):c.100C>G (p.Arg34Gly)	APOA1, APOA1-AS (R34G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2574405	NM_000039.3(APOA1):c.214G>A (p.Asp72Asn)	APOA1, APOA1-AS (D72N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2573398	NM_000039.3(APOA1):c.11_15del	APOA1	Deletion (3 prime UTR variant)	not specified	GUncertain significance
Select item 2572647	NM_000039.3(APOA1):c.126C>G (p.Tyr42Ter)	APOA1, APOA1-AS (Y42*)	Single nucleotide variant (nonsense)	Familial visceral amyloidosis, Ostertag type	GLikely pathogenic
Select item 2566618	NM_000039.3(APOA1):c.465C>G (p.Arg155=)	APOA1, APOA1-AS	Single nucleotide variant (non-coding transcript variant +1 more)	Cardiovascular phenotype	GLikely benign
Select item 2566617	NM_000039.3(APOA1):c.84C>T (p.Pro28=)	APOA1, APOA1-AS	Single nucleotide variant (synonymous variant +2 more)	not provided +1 more	GLikely benign
Select item 2566616	NM_000039.3(APOA1):c.477C>G (p.His159Gln)	APOA1, APOA1-AS (H159Q +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Cardiovascular phenotype	GLikely benign
Select item 2566615	NM_000039.3(APOA1):c.599C>T (p.Ala200Val)	APOA1 (A200V +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 2566614	NM_000039.3(APOA1):c.82C>T (p.Pro28Ser)	APOA1, APOA1-AS (P28S)	Single nucleotide variant (missense variant +2 more)	Cardiovascular phenotype	GUncertain significance
Select item 2554657	NM_000039.3(APOA1):c.88A>G (p.Ser30Gly)	APOA1, APOA1-AS (S30G)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 2452145	NM_000039.3(APOA1):c.397C>G (p.Gln133Glu)	APOA1, APOA1-AS (Q24E +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 2452144	NM_000039.3(APOA1):c.555G>A (p.Thr185=)	APOA1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 2452143	NM_000039.3(APOA1):c.772G>C (p.Glu258Gln)	APOA1 (E258Q +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 2452142	NM_000039.3(APOA1):c.760C>T (p.Leu254=)	APOA1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 2452141	NM_000039.3(APOA1):c.705C>T (p.Leu235=)	APOA1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 2443193	NM_000039.3(APOA1):c.51G>C (p.Gln17His)	APOA1, APOA1-AS (Q17H)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2426021	NC_000011.9:g.(?_116660844)_(117870356_?)del	IL10RA, PAFAH1B2 +17 more	Deletion	not provided	GUncertain significance
Select item 2422303	NC_000011.9:g.(?_116691583)_(121500272_?)dup	ABCG4, APOA1 +72 more	Duplication	Immunodeficiency 19 +5 more	GUncertain significance
Select item 2422186	NC_000011.9:g.(?_116706880)_(116714426_?)del	SIK3, APOA1	Deletion	not provided	GPathogenic
Select item 2407516	NM_000039.3(APOA1):c.527C>T (p.Ala176Val)	APOA1 (A176V +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 2332981	NM_000039.3(APOA1):c.508G>A (p.Glu170Lys)	APOA1 (E61K +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 2233945	NM_000039.3(APOA1):c.228C>G (p.Ser76Arg)	APOA1, APOA1-AS (S76R)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 2174166	NM_000039.3(APOA1):c.227G>A (p.Ser76Asn)	APOA1, APOA1-AS (S76N)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance

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