ClinVar for Gene (Select 54487) - ClinVar - NCBI

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

Links from Gene

Items: 1 to 100 of 425

<< First< Prev

Page of 5

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3048137	NM_022720.7(DGCR8):c.2028C>T (p.Ala676=)	DGCR8	Single nucleotide variant (synonymous variant)	DGCR8-related condition	GLikely benign
Select item 3036523	NM_022720.7(DGCR8):c.1536G>A (p.Glu512=)	DGCR8	Single nucleotide variant (synonymous variant)	DGCR8-related condition	GLikely benign
Select item 3030798	NM_022720.7(DGCR8):c.78C>T (p.Pro26=)	DGCR8	Single nucleotide variant (synonymous variant)	DGCR8-related condition	GLikely benign
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 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	AIFM3, ARVCF +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 2652880	NM_022720.7(DGCR8):c.1763A>G (p.Lys588Arg)	DGCR8 (K305R +2 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2652879	NM_022720.7(DGCR8):c.1091G>A (p.Arg364Gln)	DGCR8 (R364Q +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2598780	NM_022720.7(DGCR8):c.604T>G (p.Leu202Val)	DGCR8 (L202V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2592492	NM_022720.7(DGCR8):c.94C>T (p.Arg32Cys)	DGCR8 (R32C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2591408	NM_022720.7(DGCR8):c.43G>A (p.Ala15Thr)	DGCR8 (A15T)	Single nucleotide variant (missense variant)	DGCR8-related condition +1 more	GConflicting classifications of pathogenicity
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)	ARVCF, C22orf39 +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	ESS2, GGTLC3 +45 more	Copy number loss	not provided	GPathogenic
Select item 2569983	NM_022720.7(DGCR8):c.251G>A (p.Arg84His)	DGCR8 (R84H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2561452	NM_022720.7(DGCR8):c.1433C>G (p.Ser478Cys)	DGCR8 (S195C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2557094	NM_022720.7(DGCR8):c.209A>G (p.Tyr70Cys)	DGCR8 (Y70C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2553286	NM_022720.7(DGCR8):c.1135G>A (p.Val379Ile)	DGCR8 (V96I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2550780	NM_022720.7(DGCR8):c.338A>G (p.Lys113Arg)	DGCR8 (K113R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2546302	NM_022720.7(DGCR8):c.197C>G (p.Pro66Arg)	DGCR8 (P66R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2524568	NM_022720.7(DGCR8):c.74G>A (p.Arg25His)	DGCR8 (R25H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2522888	NM_022720.7(DGCR8):c.2099G>A (p.Arg700His)	DGCR8 (R667H +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2522833	NM_022720.7(DGCR8):c.1167G>C (p.Glu389Asp)	DGCR8 (E106D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2498202	Single allele	AIFM3, ARVCF +190 more	Deletion	22q11.2 deletion syndrome	GPathogenic
Select item 2489793	NM_022720.7(DGCR8):c.1282G>A (p.Glu428Lys)	DGCR8 (E145K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2487873	NM_022720.7(DGCR8):c.2009G>A (p.Arg670Lys)	DGCR8 (R387K +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2471254	NM_022720.7(DGCR8):c.1120G>A (p.Gly374Arg)	DGCR8 (G374R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2445211	Single allele	ZDHHC8, C22orf39 +45 more	Deletion	See cases	GPathogenic
Select item 2430100	NM_022720.7(DGCR8):c.2060_2061del (p.His687fs)	DGCR8 (H654fs +1 more)	Deletion (frameshift variant)	Autism spectrum disorder	GUncertain significance
Select item 2411222	NM_022720.7(DGCR8):c.1363G>C (p.Val455Leu)	DGCR8 (V172L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2394525	NM_022720.7(DGCR8):c.2293G>A (p.Gly765Ser)	DGCR8 (G482S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2367397	NM_022720.7(DGCR8):c.2266T>A (p.Ser756Thr)	DGCR8 (S723T +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2363909	NM_022720.7(DGCR8):c.1303G>A (p.Val435Ile)	DGCR8 (V152I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2362582	NM_022720.7(DGCR8):c.1339C>T (p.Arg447Cys)	DGCR8 (R447C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2340765	NM_022720.7(DGCR8):c.1417C>T (p.Arg473Trp)	DGCR8 (R473W +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2322545	NM_022720.7(DGCR8):c.680G>T (p.Arg227Ile)	DGCR8 (R227I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2312209	NM_022720.7(DGCR8):c.1418G>A (p.Arg473Gln)	DGCR8 (R190Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2287432	NM_022720.7(DGCR8):c.1754C>G (p.Ser585Cys)	DGCR8 (S302C +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2285366	NM_022720.7(DGCR8):c.1960G>C (p.Val654Leu)	DGCR8 (V621L +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2257682	NM_022720.7(DGCR8):c.1100G>A (p.Ser367Asn)	DGCR8 (S367N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2249902	NM_022720.7(DGCR8):c.77C>G (p.Pro26Arg)	DGCR8 (P26R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2223583	NM_022720.7(DGCR8):c.1214C>G (p.Pro405Arg)	DGCR8 (P122R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2206378	NM_022720.7(DGCR8):c.514G>T (p.Val172Leu)	DGCR8 (V172L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1879568	GRCh37/hg19 22q11.21(chr22:19184000-21416024)x1	AIFM3, ARVCF +38 more	Copy number loss	not provided	GPathogenic
Select item 1879567	GRCh37/hg19 22q11.21(chr22:18894078-21414817)x1	AIFM3, ARVCF +45 more	Copy number loss	not provided	GPathogenic
Select item 1879566	GRCh37/hg19 22q11.21(chr22:18893888-21570386)x1	PI4KA, PRODH +46 more	Copy number loss	not provided	GPathogenic
Select item 1879565	GRCh37/hg19 22q11.21(chr22:18834445-21414817)x1	CLDN5, CLTCL1 +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 1808679	GRCh37/hg19 22q11.21(chr22:19336598-21208828)x1	ARVCF, C22orf39 +30 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 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 1807875	GRCh37/hg19 22q11.21(chr22:19647905-21153690)x1	ARVCF, COMT +24 more	Copy number loss	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	P2RX6, PI4KA +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
Select item 1708200	GRCh37/hg19 22q11.21(chr22:18644542-21465659)x1	AIFM3, ARVCF +46 more	Copy number loss	See cases	GPathogenic
Select item 1707629	GRCh37/hg19 22q11.21(chr22:18718623-21563155)x1	AIFM3, ESS2 +47 more	Copy number loss	Syndromic anorectal malformation	GLikely pathogenic
Select item 1707626	GRCh37/hg19 22q11.21(chr22:18644702-21467607)x1	USP18, USP41 +52 more	Copy number loss	Syndromic anorectal malformation	GPathogenic
Select item 1703650	GRCh37/hg19 22q11.1-11.21(chr22:16888899-21915509)	ADA2, AIFM3 +68 more	Copy number gain	Chromosome 22q11.2 microduplication syndrome	GPathogenic
Select item 1703649	GRCh37/hg19 22q11.21(chr22:18916827-21804886)	AIFM3, ARVCF +47 more	Copy number gain	Chromosome 22q11.2 microduplication syndrome	GPathogenic
Select item 1703647	GRCh37/hg19 22q11.21(chr22:18917047-21465659)	AIFM3, ARVCF +44 more	Copy number gain	Chromosome 22q11.2 microduplication syndrome	GPathogenic
Select item 1703644	GRCh37/hg19 22q11.21(chr22:18893344-21650280)	AIFM3, ARVCF +46 more	Copy number loss	DiGeorge syndrome	GPathogenic
Select item 1703643	GRCh37/hg19 22q11.21(chr22:18648866-21798907)	AIFM3, ARVCF +49 more	Copy number loss	DiGeorge syndrome	GPathogenic
Select item 1703642	GRCh37/hg19 22q11.21(chr22:18644790-21800471)	AIFM3, ARVCF +49 more	Copy number loss	DiGeorge syndrome	GPathogenic
Select item 1703641	GRCh37/hg19 22q11.21(chr22:18916842-21798907)	AIFM3, ARVCF +47 more	Copy number loss	DiGeorge syndrome	GPathogenic
Select item 1703640	GRCh37/hg19 22q11.21(chr22:18644790-21798907)	ESS2, FAM230A +49 more	Copy number loss	DiGeorge syndrome	GPathogenic
Select item 1703639	GRCh37/hg19 22q11.21(chr22:18645353-21800797)	AIFM3, ARVCF +49 more	Copy number loss	DiGeorge syndrome	GPathogenic
Select item 1703237	Single allele	AIFM3, LOC130066960 +169 more	Duplication	Chromosome 22q11.2 microduplication syndrome	GPathogenic
Select item 1703235	Single allele	LOC108510655, LOC110120888 +169 more	Deletion	Chromosome 22q11.2 deletion syndrome, distal	GPathogenic
Select item 1701447	GRCh37/hg19 22q11.21(chr22:18893888-21414817)x1	COMT, FAM230A +45 more	Copy number loss	not provided	GPathogenic
Select item 1690603	NM_022720.7(DGCR8):c.2276C>T (p.Ala759Val)	DGCR8 (A726V +1 more)	Single nucleotide variant (missense variant)	See cases	GLikely benign
Select item 1684640	Single allele	LOC130066986, LOC130066994 +170 more	Deletion	Velocardiofacial syndrome	GPathogenic
Select item 1684558	GRCh37/hg19 22q11.21(chr22:18718028-21326012)x1	AIFM3, ARVCF +41 more	Copy number loss	See cases	GPathogenic
Select item 1684555	GRCh37/hg19 22q11.21(chr22:18884514-21484289)x1	AIFM3, ARVCF +45 more	Copy number loss	See cases	GPathogenic
Select item 1430756	NC_000022.10:g.(?_18900688)_(21351637_?)dup	LZTR1, MED15 +41 more	Duplication	DiGeorge syndrome	GUncertain significance
Select item 1330206	GRCh37/hg19 22q11.21(chr22:19036286-21208284)x1	ARVCF, C22orf39 +36 more	Copy number loss	Schizophrenia	GPathogenic
Select item 1330197	GRCh37/hg19 22q11.21(chr22:18660135-21737597)x1	AIFM3, ARVCF +47 more	Copy number loss	Chromosome 22q11.2 deletion syndrome, distal	GPathogenic
Select item 1321997	GRCh37/hg19 22q11.21(chr22:18884714-21483289)x1	AIFM3, ARVCF +45 more	Copy number loss	See cases	GPathogenic
Select item 1274799	NM_022720.7(DGCR8):c.*913G>A	DGCR8	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1180540	GRCh37/hg19 22q11.21(chr22:18889571-21464697)x1	AIFM3, ARVCF +45 more	Copy number loss	not provided	GPathogenic
Select item 1180539	GRCh37/hg19 22q11.21(chr22:18889977-21463189)x3	MRPL40, P2RX6 +45 more	Copy number gain	not provided	GPathogenic
Select item 1180538	GRCh37/hg19 22q11.21(chr22:18889693-21465485)x1	CLTCL1, COMT +45 more	Copy number loss	not provided	GPathogenic
Select item 1180537	GRCh37/hg19 22q11.21(chr22:18841374-21465101)x3	THAP7, TMEM191B +45 more	Copy number gain	not provided	GPathogenic

<< First< Prev

Page of 5