ClinVar for Gene (Select 23617) - ClinVar - NCBI

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

Links from Gene

Items: 1 to 100 of 397

<< First< Prev

Page of 4

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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	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 2618729	NM_053006.5(TSSK2):c.632G>A (p.Cys211Tyr)	ESS2, TSSK2 (C211Y)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2599949	NM_053006.5(TSSK2):c.575A>C (p.Tyr192Ser)	ESS2, TSSK2 (Y192S)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	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)	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 2553733	NM_053006.5(TSSK2):c.935A>C (p.Asp312Ala)	ESS2, TSSK2 (D312A)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2522259	NM_053006.5(TSSK2):c.658G>A (p.Asp220Asn)	ESS2, TSSK2 (D220N)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2507644	NM_053006.5(TSSK2):c.965G>A (p.Arg322Gln)	ESS2, TSSK2 (R322Q)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2498202	Single allele	AIFM3, ARVCF +190 more	Deletion	22q11.2 deletion syndrome	GPathogenic
Select item 2487237	NM_053006.5(TSSK2):c.742C>T (p.Leu248Phe)	ESS2, TSSK2 (L248F)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2454899	NM_053006.5(TSSK2):c.40G>A (p.Val14Ile)	ESS2, TSSK2 (V14I)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2445211	Single allele	ZDHHC8, C22orf39 +45 more	Deletion	See cases	GPathogenic
Select item 2424095	NC_000022.10:g.(?_17565982)_(20052185_?)del	ADA2, ARVCF +35 more	Deletion	Immunodeficiency 51 +1 more	GPathogenic
Select item 2400073	NM_053006.5(TSSK2):c.541T>C (p.Tyr181His)	TSSK2, ESS2 (Y181H)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2375257	NM_053006.5(TSSK2):c.280G>A (p.Val94Ile)	ESS2, TSSK2 (V94I)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2361584	NM_053006.5(TSSK2):c.866G>C (p.Gly289Ala)	TSSK2, ESS2 (G289A)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2319552	NM_053006.5(TSSK2):c.1048G>A (p.Gly350Arg)	TSSK2, ESS2 (G350R)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2319331	NM_053006.5(TSSK2):c.187A>G (p.Ile63Val)	ESS2, TSSK2 (I63V)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2298454	NM_053006.5(TSSK2):c.965G>T (p.Arg322Leu)	TSSK2, ESS2 (R322L)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2284504	NM_053006.5(TSSK2):c.809C>T (p.Ser270Leu)	ESS2, TSSK2 (S270L)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2259309	NM_053006.5(TSSK2):c.924C>A (p.Asp308Glu)	ESS2, TSSK2 (D308E)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GLikely benign
Select item 2242597	NM_053006.5(TSSK2):c.610G>A (p.Val204Met)	TSSK2, ESS2 (V204M)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2228879	NM_053006.5(TSSK2):c.424C>G (p.Leu142Val)	ESS2, TSSK2 (L142V)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2222229	NM_053006.5(TSSK2):c.197C>A (p.Thr66Asn)	ESS2, TSSK2 (T66N)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2222228	NM_053006.5(TSSK2):c.172C>A (p.Pro58Thr)	ESS2, TSSK2 (P58T)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2216730	NM_053006.5(TSSK2):c.130G>A (p.Asp44Asn)	ESS2, TSSK2 (D44N)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
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 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	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 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 1456987	NC_000022.10:g.(?_18900668)_(19747220_?)del	C22orf39, CDC45 +14 more	Deletion	DiGeorge syndrome	GPathogenic
Select item 1430756	NC_000022.10:g.(?_18900688)_(21351637_?)dup	LZTR1, MED15 +41 more	Duplication	DiGeorge syndrome	GUncertain significance
Select item 1341298	GRCh37/hg19 22q11.21(chr22:18626109-19285816)x1	CLTCL1, DGCR2 +7 more	Copy number loss	not provided	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 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
Select item 1172811	GRCh37/hg19 22q11.21(chr22:18873001-21469900)	P2RX6, PI4KA +45 more	Copy number gain	Cerebral palsy	GPathogenic
Select item 1172566	GRCh37/hg19 22q11.21(chr22:18889969-21462658)x1	TSSK2, TXNRD2 +45 more	Copy number loss	See cases	GPathogenic
Select item 1077190	Single allele	AIFM3, ARVCF +46 more	Deletion	DiGeorge syndrome	GPathogenic
Select item 1077187	Single allele	MED15, MRPL40 +46 more	Deletion	DiGeorge syndrome	GPathogenic
Select item 1071026	NC_000022.10:g.(?_18900688)_(21351637_?)del	MED15, MRPL40 +41 more	Deletion	DiGeorge syndrome	GPathogenic
Select item 997967	GRCh37/hg19 22q11.21(chr22:18886915-21461017)x3	ARVCF, C22orf39 +45 more	Copy number gain	Epilepsy +1 more	GPathogenic
Select item 997813	Single allele	GGTLC3, GNB1L +45 more	Deletion	Intellectual disability	GPathogenic
Select item 997809	Single allele	P2RX6, PI4KA +45 more	Deletion	Epilepsy +1 more	GPathogenic
Select item 997057	GRCh37/hg19 22q11.21(chr22:18909044-21464119)	AIFM3, ARVCF +44 more	Copy number gain	Cryptorchidism +1 more	GPathogenic
Select item 997053	GRCh37/hg19 22q11.21(chr22:18894835-21464119)	PRODH, RANBP1 +45 more	Copy number gain	Atypical behavior +2 more	GPathogenic
Select item 997047	GRCh37/hg19 22q11.21(chr22:18628019-20311763)	CLDN5, CLTCL1 +28 more	Copy number gain	Motor delay +1 more	GPathogenic
Select item 988912	GRCh37/hg19 22q11.21(chr22:18889950-21466053)x1	CLTCL1, COMT +45 more	Copy number loss	not provided	GPathogenic
Select item 988911	GRCh37/hg19 22q11.1-11.21(chr22:16800000-21500000)x4	ADA2, AIFM3 +62 more	Copy number gain	not provided	GPathogenic
Select item 983188	GRCh37/hg19 22q11.1-13.33(chr22:16197005-51224252)x3	A4GALT, ACO2 +438 more	Copy number gain	See cases	GPathogenic
Select item 983186	GRCh37/hg19 22q11.21(chr22:18661699-21457610)x1	CLDN5, CLTCL1 +45 more	Copy number loss	See cases	GPathogenic

<< First< Prev

Page of 4