ClinVar for Gene (Select 344) - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 1 to 100 of 115

<< First< Prev

Page of 2

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3231815	NM_000483.5(APOC2):c.36C>G (p.Val12=)	APOC2, APOC4-APOC2	Single nucleotide variant (non-coding transcript variant +1 more)	Cardiovascular phenotype	GLikely benign
Select item 3231814	NM_000483.5(APOC2):c.270T>G (p.Thr90=)	APOC2, APOC4-APOC2	Single nucleotide variant (non-coding transcript variant +1 more)	Cardiovascular phenotype	GLikely benign
Select item 3231813	NM_000483.5(APOC2):c.233G>A (p.Ser78Asn)	APOC2, APOC4-APOC2 (S78N)	Single nucleotide variant (non-coding transcript variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 3231812	NM_000483.5(APOC2):c.196G>A (p.Ala66Thr)	APOC2, APOC4-APOC2 (A66T)	Single nucleotide variant (non-coding transcript variant +1 more)	Cardiovascular phenotype	GLikely benign
Select item 3127993	NM_000483.5(APOC2):c.196G>C (p.Ala66Pro)	APOC2, APOC4-APOC2 (A66P)	Single nucleotide variant (non-coding transcript variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 3064990	NM_000483.5(APOC2):c.55G>T (p.Glu19Ter)	APOC2, APOC4-APOC2 (E19*)	Single nucleotide variant (non-coding transcript variant +1 more)	Familial apolipoprotein C-II deficiency	GUncertain significance
Select item 3043416	NM_000483.5(APOC2):c.*9C>T	APOC2, APOC4-APOC2	Single nucleotide variant (non-coding transcript variant +1 more)	APOC2-related disorder	GLikely benign
Select item 3004050	NM_000483.5(APOC2):c.216-15G>C	APOC2, APOC4-APOC2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2992672	NM_000483.5(APOC2):c.25_26del (p.Leu9fs)	APOC2, APOC4-APOC2 (L9fs)	Microsatellite (non-coding transcript variant +1 more)	not provided	GPathogenic
Select item 2872165	NM_000483.5(APOC2):c.56-11T>A	APOC4-APOC2, APOC2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2736904	NM_000483.5(APOC2):c.215G>C (p.Arg72Thr)	APOC2, APOC4-APOC2 (R72T)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2723717	NM_000483.5(APOC2):c.42G>C (p.Leu14=)	APOC2, APOC4-APOC2	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2625085	NM_000483.5(APOC2):c.193C>T (p.Pro65Ser)	APOC2, APOC4-APOC2 (P65S)	Single nucleotide variant (non-coding transcript variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 2625084	NM_000483.5(APOC2):c.195C>G (p.Pro65=)	APOC2, APOC4-APOC2	Single nucleotide variant (non-coding transcript variant +1 more)	Cardiovascular phenotype	GLikely benign
Select item 2619453	NM_000483.5(APOC2):c.60C>T (p.Val20=)	APOC2, APOC4-APOC2	Single nucleotide variant (non-coding transcript variant +1 more)	Cardiovascular phenotype	GLikely benign
Select item 2502228	NM_000483.5(APOC2):c.-14+8A>G	APOC2, APOC4-APOC2	Single nucleotide variant (intron variant)	Familial apolipoprotein C-II deficiency	GUncertain significance
Select item 2447637	NM_000483.5(APOC2):c.83A>G (p.Gln28Arg)	APOC2, APOC4-APOC2 (Q28R)	Single nucleotide variant (non-coding transcript variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 2447636	NM_000483.5(APOC2):c.300G>A (p.Glu100=)	APOC2, APOC4-APOC2	Single nucleotide variant (non-coding transcript variant +1 more)	Cardiovascular phenotype	GLikely benign
Select item 2447635	NM_000483.5(APOC2):c.248G>C (p.Ser83Thr)	APOC2, APOC4-APOC2 (S83T)	Single nucleotide variant (non-coding transcript variant +1 more)	Cardiovascular phenotype	GLikely benign
Select item 2447634	NM_000483.5(APOC2):c.296G>A (p.Gly99Glu)	APOC2, APOC4-APOC2 (G99E)	Single nucleotide variant (non-coding transcript variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 2447633	NM_000483.5(APOC2):c.257C>G (p.Thr86Arg)	APOC2, APOC4-APOC2 (T86R)	Single nucleotide variant (non-coding transcript variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 2423146	NC_000019.9:g.(?_45451736)_(45452506_?)del	APOC2	Deletion	not provided	GPathogenic
Select item 2325947	NM_000483.5(APOC2):c.179A>T (p.Glu60Val)	APOC2, APOC4-APOC2 (E60V)	Single nucleotide variant (non-coding transcript variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 2241923	NM_000483.5(APOC2):c.136A>G (p.Ser46Gly)	APOC2, APOC4-APOC2 (S46G)	Single nucleotide variant (non-coding transcript variant +1 more)	Cardiovascular phenotype	GLikely benign
Select item 1964178	NM_000483.5(APOC2):c.205G>A (p.Glu69Lys)	APOC2, APOC4-APOC2 (E69K)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 1959024	NM_000483.5(APOC2):c.33T>C (p.Leu11=)	APOC2, APOC4-APOC2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1937520	NM_000483.5(APOC2):c.10del (p.Arg4fs)	APOC2, APOC4-APOC2 (R4fs)	Deletion (non-coding transcript variant +1 more)	not provided	GPathogenic
Select item 1930506	NM_000483.5(APOC2):c.216-16T>C	APOC2, APOC4-APOC2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1928114	NM_000483.5(APOC2):c.238G>A (p.Ala80Thr)	APOC2, APOC4-APOC2 (A80T)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 1912944	NM_000483.5(APOC2):c.55+20G>A	APOC2, APOC4-APOC2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1898432	NM_000483.5(APOC2):c.216-5C>T	APOC2, APOC4-APOC2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1798269	NM_000483.5(APOC2):c.296G>C (p.Gly99Ala)	APOC2, APOC4-APOC2 (G99A)	Single nucleotide variant (non-coding transcript variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 1796945	NM_000483.5(APOC2):c.285T>C (p.Ser95=)	APOC4-APOC2, APOC2	Single nucleotide variant (non-coding transcript variant +1 more)	Cardiovascular phenotype	GLikely benign
Select item 1796580	NM_000483.5(APOC2):c.282T>C (p.Leu94=)	APOC2, APOC4-APOC2	Single nucleotide variant (non-coding transcript variant +1 more)	Cardiovascular phenotype	GLikely benign
Select item 1794025	NM_000483.5(APOC2):c.262A>C (p.Ile88Leu)	APOC2, APOC4-APOC2 (I88L)	Single nucleotide variant (non-coding transcript variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 1793910	NM_000483.5(APOC2):c.261C>G (p.Gly87=)	APOC2, APOC4-APOC2	Single nucleotide variant (non-coding transcript variant +1 more)	Cardiovascular phenotype	GLikely benign
Select item 1791964	NM_000483.5(APOC2):c.10C>G (p.Arg4Gly)	APOC2, APOC4-APOC2 (R4G)	Single nucleotide variant (non-coding transcript variant +1 more)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 1784134	NM_000483.5(APOC2):c.199G>A (p.Val67Ile)	APOC2, APOC4-APOC2 (V67I)	Single nucleotide variant (non-coding transcript variant +1 more)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 1783388	NM_000483.5(APOC2):c.195C>T (p.Pro65=)	APOC2, APOC4-APOC2	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +1 more	GLikely benign
Select item 1779944	NM_000483.5(APOC2):c.177C>T (p.Tyr59=)	APOC2, APOC4-APOC2	Single nucleotide variant (non-coding transcript variant +1 more)	Cardiovascular phenotype	GLikely benign
Select item 1779771	NM_000483.5(APOC2):c.105C>T (p.Thr35=)	APOC4-APOC2, APOC2	Single nucleotide variant (non-coding transcript variant +1 more)	Cardiovascular phenotype	GLikely benign
Select item 1777439	NM_000483.5(APOC2):c.165C>T (p.Ala55=)	APOC2, APOC4-APOC2	Single nucleotide variant (non-coding transcript variant +1 more)	Cardiovascular phenotype +1 more	GLikely benign
Select item 1777009	NM_000483.5(APOC2):c.163G>A (p.Ala55Thr)	APOC2, APOC4-APOC2 (A55T)	Single nucleotide variant (non-coding transcript variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 1776786	NM_000483.5(APOC2):c.162C>T (p.Ala54=)	APOC2, APOC4-APOC2	Single nucleotide variant (non-coding transcript variant +1 more)	APOC2-related disorder +1 more	GLikely benign
Select item 1763618	NM_000483.5(APOC2):c.84A>G (p.Gln28=)	APOC4-APOC2, APOC2	Single nucleotide variant (non-coding transcript variant +1 more)	Cardiovascular phenotype	GLikely benign
Select item 1761108	NM_000483.5(APOC2):c.78C>A (p.Pro26=)	APOC2, APOC4-APOC2	Single nucleotide variant (non-coding transcript variant +1 more)	Cardiovascular phenotype	GLikely benign
Select item 1758714	NM_000483.5(APOC2):c.73C>A (p.Gln25Lys)	APOC2, APOC4-APOC2 (Q25K)	Single nucleotide variant (non-coding transcript variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 1756057	NM_000483.5(APOC2):c.68C>T (p.Thr23Ile)	APOC2, APOC4-APOC2 (T23I)	Single nucleotide variant (non-coding transcript variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 1754953	NM_000483.5(APOC2):c.101C>T (p.Pro34Leu)	APOC2, APOC4-APOC2 (P34L)	Single nucleotide variant (non-coding transcript variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 1753315	NM_000483.5(APOC2):c.63G>A (p.Gln21=)	APOC2, APOC4-APOC2	Single nucleotide variant (non-coding transcript variant +1 more)	Cardiovascular phenotype	GLikely benign
Select item 1747123	NM_000483.5(APOC2):c.11G>A (p.Arg4Gln)	APOC2, APOC4-APOC2 (R4Q)	Single nucleotide variant (non-coding transcript variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 1746700	NM_000483.5(APOC2):c.52T>G (p.Phe18Val)	APOC2, APOC4-APOC2 (F18V)	Single nucleotide variant (non-coding transcript variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 1744708	NM_000483.5(APOC2):c.4G>C (p.Gly2Arg)	APOC2, APOC4-APOC2 (G2R)	Single nucleotide variant (non-coding transcript variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 1736859	NM_000483.5(APOC2):c.39C>T (p.Leu13=)	APOC2, APOC4-APOC2	Single nucleotide variant (non-coding transcript variant +1 more)	Cardiovascular phenotype	GLikely benign
Select item 1685529	NM_000483.5(APOC2):c.274C>T (p.Gln92Ter)	APOC2, APOC4-APOC2 (Q92*)	Single nucleotide variant (non-coding transcript variant +1 more)	Cardiovascular phenotype +1 more	GPathogenic/Likely pathogenic
Select item 1668561	NM_000483.5(APOC2):c.174G>A (p.Leu58=)	APOC2, APOC4-APOC2	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 1620032	NM_000483.5(APOC2):c.215+10G>A	APOC2, APOC4-APOC2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1591835	NM_000483.5(APOC2):c.8C>T (p.Thr3Ile)	APOC2, APOC4-APOC2 (T3I)	Single nucleotide variant (non-coding transcript variant +1 more)	Cardiovascular phenotype +1 more	GConflicting classifications of pathogenicity
Select item 1530932	NM_000483.5(APOC2):c.34G>A (p.Val12Ile)	APOC2, APOC4-APOC2 (V12I)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 1526667	GRCh37/hg19 19q13.31-13.32(chr19:45074342-46133841)	APOC1, APOC2 +36 more	Copy number gain	not specified	GUncertain significance
Select item 1524701	NM_000483.5(APOC2):c.56-7C>G	APOC2, APOC4-APOC2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1374052	NM_000483.5(APOC2):c.10C>T (p.Arg4Ter)	APOC2, APOC4-APOC2 (R4*)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GPathogenic
Select item 1284889	NM_000483.5(APOC2):c.118del (p.Gln39_Val40insTer)	APOC2, APOC4-APOC2	Deletion (non-coding transcript variant +1 more)	not provided +1 more	GPathogenic
Select item 1281172	NM_000483.5(APOC2):c.-13-281A>G	APOC2, APOC4-APOC2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1273786	NM_000483.5(APOC2):c.216-81T>C	APOC2, APOC4-APOC2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1268118	NM_000483.5(APOC2):c.-13-76C>G	APOC2, APOC4-APOC2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1255025	NM_000483.5(APOC2):c.-13-67T>G	APOC2, APOC4-APOC2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1254679	NM_000483.5(APOC2):c.216-61A>C	APOC2, APOC4-APOC2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1254202	NM_000483.5(APOC2):c.-13-189T>G	APOC2, APOC4-APOC2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1252774	NM_000483.5(APOC2):c.216-146_216-145insCTC	APOC2, APOC4-APOC2	Insertion (intron variant)	not provided	GBenign
Select item 1249352	NM_000483.5(APOC2):c.216-145G>T	APOC2, APOC4-APOC2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1232427	NM_000483.5(APOC2):c.-13-103T>A	APOC2, APOC4-APOC2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1204770	NM_000483.5(APOC2):c.215+44G>A	APOC2, APOC4-APOC2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1189660	NM_000483.5(APOC2):c.-13-75C>G	APOC2, APOC4-APOC2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 894638	NM_000483.5(APOC2):c.*77C>A	APOC2, APOC4-APOC2	Single nucleotide variant (non-coding transcript variant +1 more)	Familial apolipoprotein C-II deficiency	GUncertain significance
Select item 894637	NM_000483.5(APOC2):c.195C>A (p.Pro65=)	APOC2, APOC4-APOC2	Single nucleotide variant (non-coding transcript variant +1 more)	Familial apolipoprotein C-II deficiency +2 more	GConflicting classifications of pathogenicity
Select item 894242	NM_000483.5(APOC2):c.85G>A (p.Asp29Asn)	APOC2, APOC4-APOC2 (D29N)	Single nucleotide variant (non-coding transcript variant +1 more)	Familial apolipoprotein C-II deficiency +1 more	GConflicting classifications of pathogenicity
Select item 894241	NM_000483.5(APOC2):c.56-11T>C	APOC2, APOC4-APOC2	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 894240	NM_000483.5(APOC2):c.-18G>A	APOC4-APOC2, APOC2	Single nucleotide variant (non-coding transcript variant +1 more)	Familial apolipoprotein C-II deficiency	GUncertain significance
Select item 894239	NM_000483.5(APOC2):c.-38G>C	APOC2, APOC4-APOC2	Single nucleotide variant (non-coding transcript variant +1 more)	Familial apolipoprotein C-II deficiency	GUncertain significance
Select item 816084	GRCh37/hg19 19q13.31-13.42(chr19:44738088-53621561)x3	CLDND2, IGSF23 +293 more	Copy number gain	not provided	GPathogenic
Select item 782056	NM_000483.5(APOC2):c.56-4G>C	APOC2, APOC4-APOC2	Single nucleotide variant (intron variant)	Familial apolipoprotein C-II deficiency +2 more	GBenign
Select item 685025	GRCh37/hg19 19q11-13.33(chr19:28271106-49213832)x3	ACP7, ACTMAP +434 more	Copy number gain	not provided	GPathogenic
Select item 634436	NM_000483.5(APOC2):c.189C>A (p.Tyr63Ter)	APOC4-APOC2, APOC2 (Y63*)	Single nucleotide variant (non-coding transcript variant +1 more)	Familial apolipoprotein C-II deficiency	GPathogenic
Select item 443499	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)	BICRA, BLOC1S3 +1364 more	Copy number gain	See cases	GPathogenic
Select item 443498	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3	A1BG, ABCA7 +1364 more	Copy number gain	See cases	GPathogenic
Select item 442437	GRCh37/hg19 19q13.31-13.32(chr19:44300416-45639540)x1	APOC1, APOC2 +39 more	Copy number loss	See cases	GUncertain significance
Select item 329464	NM_000483.5(APOC2):c.*308dup	APOC2, APOC4-APOC2	Duplication (non-coding transcript variant +1 more)	Familial apolipoprotein C-II deficiency	GUncertain significance
Select item 329463	NM_000483.5(APOC2):c.*306C>T	APOC2, APOC4-APOC2	Single nucleotide variant (3 prime UTR variant +1 more)	Familial apolipoprotein C-II deficiency +1 more	GBenign
Select item 329462	NM_000483.5(APOC2):c.*236C>T	APOC2, APOC4-APOC2	Single nucleotide variant (non-coding transcript variant +1 more)	Familial apolipoprotein C-II deficiency	GLikely benign
Select item 329461	NM_000483.5(APOC2):c.*203G>A	APOC2, APOC4-APOC2	Single nucleotide variant (non-coding transcript variant +1 more)	Familial apolipoprotein C-II deficiency	GUncertain significance
Select item 329460	NM_000483.5(APOC2):c.188_189insT	APOC2, APOC4-APOC2	Insertion (non-coding transcript variant +1 more)	not provided +1 more	GBenign
Select item 329459	NM_000483.5(APOC2):c.*174T>C	APOC2, APOC4-APOC2	Single nucleotide variant (non-coding transcript variant +1 more)	Familial apolipoprotein C-II deficiency	GUncertain significance
Select item 329458	NM_000483.5(APOC2):c.*116T>C	APOC2, APOC4-APOC2	Single nucleotide variant (non-coding transcript variant +1 more)	Familial apolipoprotein C-II deficiency	GLikely benign
Select item 329457	NM_000483.5(APOC2):c.*90C>T	APOC2, APOC4-APOC2	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 329456	NM_000483.5(APOC2):c.*24C>T	APOC2, APOC4-APOC2	Single nucleotide variant (non-coding transcript variant +1 more)	Familial apolipoprotein C-II deficiency	GUncertain significance
Select item 329455	NM_000483.5(APOC2):c.301G>A (p.Glu101Lys)	APOC2, APOC4-APOC2 (E101K)	Single nucleotide variant (non-coding transcript variant +1 more)	Familial apolipoprotein C-II deficiency	GUncertain significance
Select item 329454	NM_000483.5(APOC2):c.102G>A (p.Pro34=)	APOC2, APOC4-APOC2	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 329453	NM_000483.5(APOC2):c.-2C>T	APOC2, APOC4-APOC2	Single nucleotide variant (non-coding transcript variant +1 more)	Cardiovascular phenotype +3 more	GBenign/Likely benign
Select item 329452	NM_000483.4(APOC2):c.-45C>T	APOC2, APOC4-APOC2	Single nucleotide variant (non-coding transcript variant)	Familial apolipoprotein C-II deficiency	GUncertain significance

<< First< Prev

Page of 2