ClinVar for Gene (Select 2928) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3282934	NM_005315.2(GSC2):c.533G>A (p.Arg178Gln)	GSC2 (R178Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3282933	NM_005315.2(GSC2):c.185C>A (p.Ala62Glu)	GSC2 (A62E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3282932	NM_005315.2(GSC2):c.281T>A (p.Leu94Gln)	GSC2 (L94Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3282931	NM_005315.2(GSC2):c.383G>A (p.Arg128His)	GSC2 (R128H)	Single nucleotide variant (missense variant)	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 3102795	NM_005315.2(GSC2):c.525G>C (p.Lys175Asn)	GSC2 (K175N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3102794	NM_005315.2(GSC2):c.481G>T (p.Gly161Cys)	GSC2 (G161C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3102793	NM_005315.2(GSC2):c.447G>C (p.Gln149His)	GSC2 (Q149H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3102791	NM_005315.2(GSC2):c.263C>G (p.Ala88Gly)	GSC2 (A88G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3102790	NM_005315.2(GSC2):c.253G>A (p.Gly85Arg)	GSC2 (G85R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3102789	NM_005315.2(GSC2):c.215C>G (p.Pro72Arg)	GSC2 (P72R)	Single nucleotide variant (missense variant)	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 2619984	NM_005315.2(GSC2):c.530G>T (p.Arg177Leu)	GSC2 (R177L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2591793	NM_005315.2(GSC2):c.428C>T (p.Ala143Val)	GSC2 (A143V)	Single nucleotide variant (missense variant)	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 2532649	NM_005315.2(GSC2):c.377C>T (p.Thr126Met)	GSC2 (T126M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2498202	Single allele	AIFM3, ARVCF +190 more	Deletion	22q11.2 deletion syndrome	GPathogenic
Select item 2476010	NM_005315.2(GSC2):c.169G>T (p.Gly57Trp)	GSC2 (G57W)	Single nucleotide variant (missense variant)	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 2399985	NM_005315.2(GSC2):c.151G>A (p.Ala51Thr)	GSC2 (A51T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2389706	NM_005315.2(GSC2):c.158C>T (p.Pro53Leu)	GSC2 (P53L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2341812	NM_005315.2(GSC2):c.263C>T (p.Ala88Val)	GSC2 (A88V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2338506	NM_005315.2(GSC2):c.502G>A (p.Glu168Lys)	GSC2 (E168K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2307130	NM_005315.2(GSC2):c.180G>C (p.Glu60Asp)	GSC2 (E60D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2294409	NM_005315.2(GSC2):c.308C>T (p.Ser103Phe)	GSC2 (S103F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2283238	NM_005315.2(GSC2):c.456C>A (p.Asp152Glu)	GSC2 (D152E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2259590	NM_005315.2(GSC2):c.412C>G (p.Leu138Val)	GSC2 (L138V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2239765	NM_005315.2(GSC2):c.514G>T (p.Val172Phe)	GSC2 (V172F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2238350	NM_005315.2(GSC2):c.535G>T (p.Ala179Ser)	GSC2 (A179S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2208753	NM_005315.2(GSC2):c.232G>A (p.Gly78Arg)	GSC2 (G78R)	Single nucleotide variant (missense variant)	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
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	LOC125424386, LOC125424387 +169 more	Duplication	Chromosome 22q11.2 microduplication syndrome	GPathogenic
Select item 1703235	Single allele	LINC00896, LINC01311 +169 more	Deletion	Chromosome 22q11.2 deletion syndrome, distal	GPathogenic
Select item 1701447	GRCh37/hg19 22q11.21(chr22:18893888-21414817)x1	RTL10, USP41 +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	CDC45, CLDN5 +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

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