ClinVar for Gene (Select 9993) - ClinVar - NCBI

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

Links from Gene

Items: 1 to 100 of 463

<< First< Prev

Page of 5

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3271688	NM_005137.3(DGCR2):c.1628G>A (p.Arg543His)	DGCR2 (R502H +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3242338	GRCh37/hg19 22q11.21(chr22:19016502-21464637)x1	AIFM3, ARVCF +43 more	Copy number loss	not provided	GPathogenic
Select item 3242337	GRCh37/hg19 22q11.1-11.21(chr22:16849364-20311389)x3	ADA2, ARVCF +44 more	Copy number gain	not provided	GPathogenic
Select item 3242284	GRCh37/hg19 22q11.21(chr22:18888685-21465668)x1	AIFM3, ARVCF +45 more	Copy number loss	not provided	GPathogenic
Select item 3148947	GRCh37/hg19 22q11.21(chr22:18648856-21800471)x1	AIFM3, ARVCF +49 more	Copy number loss	See cases	GPathogenic
Select item 3148946	GRCh37/hg19 22q11.21(chr22:18649190-21800471)x3	AIFM3, ARVCF +49 more	Copy number gain	not provided	GPathogenic
Select item 3148922	GRCh37/hg19 22q11.21(chr22:18919478-21461017)x3	AIFM3, ARVCF +44 more	Copy number gain	not provided	GPathogenic
Select item 3148919	GRCh37/hg19 22q11.21(chr22:18649190-21022258)x3	ARVCF, C22orf39 +37 more	Copy number gain	See cases	GPathogenic
Select item 3148863	GRCh37/hg19 22q11.1-11.21(chr22:16888900-20312661)x3	ADA2, ARVCF +44 more	Copy number gain	not provided	GPathogenic
Select item 3148859	GRCh37/hg19 22q11.21(chr22:18919478-21927646)x3	AIFM3, ARVCF +50 more	Copy number gain	not provided	GPathogenic
Select item 3081844	NM_005137.3(DGCR2):c.957G>C (p.Gln319His)	DGCR2 (Q319H +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3081843	NM_005137.3(DGCR2):c.521G>C (p.Arg174Pro)	DGCR2 (R174P +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3081842	NM_005137.3(DGCR2):c.521G>A (p.Arg174Gln)	DGCR2 (R133Q +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3081841	NM_005137.3(DGCR2):c.485G>T (p.Arg162Leu)	DGCR2 (R121L +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3081840	NM_005137.3(DGCR2):c.316G>A (p.Val106Ile)	DGCR2 (V106I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3081839	NM_005137.3(DGCR2):c.311A>T (p.Gln104Leu)	DGCR2 (Q63L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3081838	NM_005137.3(DGCR2):c.262C>T (p.Arg88Trp)	DGCR2 (R47W +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3081837	NM_005137.3(DGCR2):c.1525G>T (p.Asp509Tyr)	DGCR2 (D465Y +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3081836	NM_005137.3(DGCR2):c.1474C>T (p.Arg492Cys)	DGCR2 (R489C +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3081835	NM_005137.3(DGCR2):c.1472G>C (p.Arg491Pro)	DGCR2 (R488P +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3081834	NM_005137.3(DGCR2):c.1472G>A (p.Arg491Gln)	DGCR2 (R488Q +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3081833	NM_005137.3(DGCR2):c.1406C>G (p.Ala469Gly)	DGCR2 (A425G +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3081832	NM_005137.3(DGCR2):c.1405G>A (p.Ala469Thr)	DGCR2 (A425T +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3081830	NM_005137.3(DGCR2):c.1213G>A (p.Gly405Arg)	DGCR2 (G405R +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3081829	NM_005137.3(DGCR2):c.1078A>G (p.Ile360Val)	DGCR2 (I357V +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3081828	NM_005137.3(DGCR2):c.1054G>A (p.Val352Ile)	DGCR2 (V349I +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2685672	GRCh37/hg19 22q11.1-11.21(chr22:17832142-20945625)x1	RTL10, RTN4R +45 more	Copy number loss	not provided	GPathogenic
Select item 2684928	GRCh37/hg19 22q11.21(chr22:19040482-19203095)x3	CLTCL1, DGCR2 +4 more	Copy number gain	not provided	GUncertain significance
Select item 2684927	GRCh37/hg19 22q11.21(chr22:18916843-20716903)x3	ARVCF, C22orf39 +30 more	Copy number gain	not provided	GPathogenic
Select item 2672921	GRCh37/hg19 22q11.21(chr22:18893888-21563415)x1	CLTCL1, COMT +46 more	Copy number loss	not provided	GPathogenic
Select item 2663892	GRCh38/hg38 22q11.21(chr22:18856290-21070117)x3	AIFM3, ARVCF +174 more	Copy number gain	Microcephaly-digital anomalies-intellectual disability syndrome	GPathogenic
Select item 2652854	NM_005137.3(DGCR2):c.304G>A (p.Val102Met)	DGCR2 (V102M +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2652853	NM_005137.3(DGCR2):c.1223C>T (p.Thr408Met)	DGCR2 (T364M +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2652852	NM_005137.3(DGCR2):c.1475G>A (p.Arg492His)	DGCR2 (R448H +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2622249	NM_005137.3(DGCR2):c.584G>A (p.Arg195Gln)	DGCR2 (R192Q +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2616471	NM_005137.3(DGCR2):c.763G>A (p.Glu255Lys)	DGCR2 (E252K +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2600782	NM_005137.3(DGCR2):c.1370C>T (p.Pro457Leu)	DGCR2 (P454L +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2590370	NM_005137.3(DGCR2):c.1273C>G (p.His425Asp)	DGCR2 (H381D +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2580321	GRCh37/hg19 22q11.21(chr22:18893838-20307561)x1	ARVCF, C22orf39 +27 more	Copy number loss	DiGeorge syndrome	GPathogenic
Select item 2580309	GRCh37/hg19 22q11.21(chr22:18893838-21416074)x3	AIFM3, ARVCF +45 more	Copy number gain	Chromosome 22q11.2 deletion syndrome, distal +1 more	GPathogenic
Select item 2580291	GRCh37/hg19 22q11.21(chr22:18893838-20508931)x3	ARVCF, C22orf39 +30 more	Copy number gain	Chromosome 22q11.2 deletion syndrome, distal	GPathogenic
Select item 2579266	GRCh38/hg38 22q11.21(chr22:18985739-21081116)x1	AIFM3, ARVCF +169 more	Copy number loss	DiGeorge syndrome	GPathogenic
Select item 2574689	GRCh37/hg19 22q11.21(chr22:18916842-20311810)	COMT, ARVCF +26 more	Copy number gain	Chromosome 22q11.2 microduplication syndrome	GPathogenic
Select item 2574134	NC_000022.11:g.18948676_21110520del	LOC130066999, LOC130067004 +170 more	Deletion	Velocardiofacial syndrome	GPathogenic
Select item 2572172	NC_000022.11:g.18948676_21110520dup	LOC130066967, TSSK2 +170 more	Duplication	Chromosome 22q11.2 microduplication syndrome	GPathogenic
Select item 2571168	GRCh37/hg19 22q11.21(chr22:18893888-21481925)x1	AIFM3, ARVCF +45 more	Copy number loss	not provided	GPathogenic
Select item 2561724	NM_005137.3(DGCR2):c.604C>T (p.Arg202Cys)	DGCR2 (R161C +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2550958	NM_005137.3(DGCR2):c.194A>G (p.Asn65Ser)	DGCR2 (N65S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2515427	NM_005137.3(DGCR2):c.1232C>T (p.Thr411Met)	DGCR2 (T411M +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2511938	NM_005137.3(DGCR2):c.1555G>A (p.Val519Met)	DGCR2 (V516M +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2498202	Single allele	AIFM3, ARVCF +190 more	Deletion	22q11.2 deletion syndrome	GPathogenic
Select item 2478989	NM_005137.3(DGCR2):c.11A>G (p.Lys4Arg)	DGCR2 (K4R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2467124	NM_005137.3(DGCR2):c.440G>A (p.Arg147His)	DGCR2 (R103H +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2466216	NM_005137.3(DGCR2):c.901G>A (p.Gly301Arg)	DGCR2 (G301R +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2458151	NM_005137.3(DGCR2):c.830A>G (p.Asn277Ser)	DGCR2 (N233S +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2457906	NM_005137.3(DGCR2):c.691G>A (p.Val231Met)	DGCR2 (V228M +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2455305	NM_005137.3(DGCR2):c.253C>T (p.Arg85Trp)	DGCR2 (R85W +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2445211	Single allele	AIFM3, ARVCF +45 more	Deletion	See cases	GPathogenic
Select item 2424095	NC_000022.10:g.(?_17565982)_(20052185_?)del	ADA2, ARVCF +35 more	Deletion	Vasculitis due to ADA2 deficiency +1 more	GPathogenic
Select item 2410927	NM_005137.3(DGCR2):c.475C>A (p.Gln159Lys)	DGCR2 (Q118K +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2398955	NM_005137.3(DGCR2):c.1471C>T (p.Arg491Trp)	DGCR2 (R447W +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2392500	NM_005137.3(DGCR2):c.280C>A (p.Pro94Thr)	DGCR2 (P94T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2390655	NM_005137.3(DGCR2):c.284C>T (p.Ser95Leu)	DGCR2 (S54L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2379551	NM_005137.3(DGCR2):c.403G>A (p.Gly135Arg)	DGCR2 (G132R +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2379463	NM_005137.3(DGCR2):c.1387G>T (p.Asp463Tyr)	DGCR2 (D419Y +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2368449	NM_005137.3(DGCR2):c.621C>G (p.Phe207Leu)	DGCR2 (F163L +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2337707	NM_005137.3(DGCR2):c.1534G>A (p.Asp512Asn)	DGCR2 (D468N +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2330757	NM_005137.3(DGCR2):c.476A>G (p.Gln159Arg)	DGCR2 (Q115R +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2325787	NM_005137.3(DGCR2):c.374C>T (p.Thr125Met)	DGCR2 (T122M +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2324775	NM_005137.3(DGCR2):c.689A>G (p.Asn230Ser)	DGCR2 (N186S +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2300886	NM_005137.3(DGCR2):c.440G>T (p.Arg147Leu)	DGCR2 (R103L +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2296033	NM_005137.3(DGCR2):c.1417G>A (p.Val473Met)	DGCR2 (V432M +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2286919	NM_005137.3(DGCR2):c.1389C>A (p.Asp463Glu)	DGCR2 (D419E +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2278527	NM_005137.3(DGCR2):c.1348C>A (p.Pro450Thr)	DGCR2 (P447T +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2257100	NM_005137.3(DGCR2):c.578C>T (p.Thr193Ile)	DGCR2 (T152I +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2238792	NM_005137.3(DGCR2):c.1024G>C (p.Asp342His)	DGCR2 (D301H +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2217808	NM_005137.3(DGCR2):c.1133G>A (p.Arg378His)	DGCR2 (R375H +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2216106	NM_005137.3(DGCR2):c.733C>T (p.Arg245Trp)	DGCR2 (R201W +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2212993	NM_005137.3(DGCR2):c.368A>G (p.Glu123Gly)	DGCR2 (E123G +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1879567	GRCh37/hg19 22q11.21(chr22:18894078-21414817)x1	GP1BB, SCARF2 +45 more	Copy number loss	not provided	GPathogenic
Select item 1879566	GRCh37/hg19 22q11.21(chr22:18893888-21570386)x1	AIFM3, ARVCF +46 more	Copy number loss	not provided	GPathogenic
Select item 1879565	GRCh37/hg19 22q11.21(chr22:18834445-21414817)x1	TXNRD2, USP41 +45 more	Copy number loss	not provided	GPathogenic
Select item 1808875	GRCh37/hg19 22q11.21(chr22:18644791-21041014)x1	MRPL40, PRODH +37 more	Copy number loss	not provided	GPathogenic
Select item 1808741	GRCh37/hg19 22q11.21(chr22:18916843-21465659)x1	AIFM3, ARVCF +44 more	Copy number loss	not provided	GPathogenic
Select item 1808737	GRCh37/hg19 22q11.21(chr22:18916843-21075592)x1	ARVCF, C22orf39 +36 more	Copy number loss	not provided	GPathogenic
Select item 1808642	GRCh37/hg19 22q11.21(chr22:18644543-21800797)x1	C22orf39, CDC45 +49 more	Copy number loss	not provided	GPathogenic
Select item 1808633	GRCh37/hg19 22q11.21(chr22:18916843-21915509)x1	AIFM3, ARVCF +50 more	Copy number loss	not provided	GPathogenic
Select item 1808620	GRCh37/hg19 22q11.21(chr22:18648867-21798907)x3	LZTR1, KLHL22 +49 more	Copy number gain	not provided	GPathogenic
Select item 1808608	GRCh37/hg19 22q11.21(chr22:18916828-21800797)x1	AIFM3, ARVCF +47 more	Copy number loss	not provided	GPathogenic
Select item 1808457	GRCh37/hg19 22q11.1-11.21(chr22:17570796-19695101)x1	ADA2, ATP6V1E1 +26 more	Copy number loss	not provided	GUncertain significance
Select item 1808421	GRCh37/hg19 22q11.21(chr22:19046677-21465662)x1	CDC45, CLTCL1 +43 more	Copy number loss	not provided	GPathogenic
Select item 1808239	GRCh37/hg19 22q11.21(chr22:18916843-20311858)x1	ARVCF, C22orf39 +26 more	Copy number loss	not provided	GPathogenic
Select item 1808077	GRCh37/hg19 22q11.21(chr22:18648867-20311858)x3	ARVCF, C22orf39 +28 more	Copy number gain	not provided	GPathogenic
Select item 1807729	GRCh37/hg19 22q11.21(chr22:18916843-21033401)x1	CDC45, CLDN5 +35 more	Copy number loss	not provided	GPathogenic
Select item 1807726	GRCh37/hg19 22q11.21(chr22:18916843-21800471)x1	C22orf39, AIFM3 +47 more	Copy number loss	not provided	GPathogenic
Select item 1807719	GRCh37/hg19 22q11.21(chr22:18916843-21804563)x3	AIFM3, ARVCF +47 more	Copy number gain	not provided	GPathogenic
Select item 1807705	GRCh37/hg19 22q11.21(chr22:18648867-21465659)x1	AIFM3, ARVCF +46 more	Copy number loss	not provided	GPathogenic
Select item 1807702	GRCh37/hg19 22q11.21(chr22:18916843-21798907)x3	RTL10, RTN4R +47 more	Copy number gain	not provided	GPathogenic
Select item 1711557	GRCh37/hg19 22q11.21(chr22:18893888-21414817)x3	AIFM3, ARVCF +45 more	Copy number gain	not provided	GPathogenic
Select item 1710917	GRCh37/hg19 22q11.21(chr22:18916842-21465659)x1	AIFM3, ARVCF +44 more	Copy number loss	See cases	GPathogenic

<< First< Prev

Page of 5