ClinVar for Gene (Select 728229) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3242338	GRCh37/hg19 22q11.21(chr22:19016502-21464637)x1	AIFM3, ARVCF +43 more	Copy number loss	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 3179072	NM_001242313.1(TMEM191B):c.815G>A (p.Gly272Asp)	TMEM191B (G272D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3179071	NM_001242313.1(TMEM191B):c.361G>A (p.Glu121Lys)	TMEM191B (E121K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 3148859	GRCh37/hg19 22q11.21(chr22:18919478-21927646)x3	AIFM3, ARVCF +50 more	Copy number gain	not provided	GPathogenic
Select item 3067264	NM_001242313.1(TMEM191B):c.420+1G>T	TMEM191B	Single nucleotide variant (splice donor variant)	not provided	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 2652884	NM_001242313.1(TMEM191B):c.531A>G (p.Gln177=)	TMEM191B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2596152	NM_001242313.1(TMEM191B):c.403C>A (p.Arg135Ser)	TMEM191B (R135S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2571168	GRCh37/hg19 22q11.21(chr22:18893888-21481925)x1	CLTCL1, AIFM3 +45 more	Copy number loss	not provided	GPathogenic
Select item 2515186	NM_001242313.1(TMEM191B):c.730G>C (p.Gly244Arg)	TMEM191B (G244R)	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 2495634	NM_001242313.1(TMEM191B):c.755G>A (p.Ser252Asn)	TMEM191B (S252N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2474643	NM_001242313.1(TMEM191B):c.315C>G (p.Ser105Arg)	LOC130066948, TMEM191B (S105R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2469214	NM_001242313.1(TMEM191B):c.781G>A (p.Ala261Thr)	TMEM191B (A261T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2467667	NM_001242313.1(TMEM191B):c.336A>C (p.Gln112His)	LOC130066948, TMEM191B (Q112H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2459747	NM_001242313.1(TMEM191B):c.749A>C (p.Gln250Pro)	TMEM191B (Q250P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2445211	Single allele	AIFM3, ARVCF +45 more	Deletion	See cases	GPathogenic
Select item 2351765	NM_001242313.1(TMEM191B):c.692C>T (p.Pro231Leu)	TMEM191B (P231L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2346349	NM_001242313.1(TMEM191B):c.823G>A (p.Ala275Thr)	TMEM191B (A275T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2344591	NM_001242313.1(TMEM191B):c.370G>C (p.Glu124Gln)	TMEM191B (E124Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2344590	NM_001242313.1(TMEM191B):c.297C>G (p.Ser99Arg)	LOC130066948, TMEM191B (S99R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2343718	NM_001242313.1(TMEM191B):c.742G>A (p.Gly248Arg)	TMEM191B (G248R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2342408	NM_001242313.1(TMEM191B):c.432C>G (p.Ser144Arg)	TMEM191B (S144R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2337306	NM_001242313.1(TMEM191B):c.746T>C (p.Val249Ala)	TMEM191B (V249A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2258713	NM_001242313.1(TMEM191B):c.788C>A (p.Ala263Glu)	TMEM191B (A263E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2238731	NM_001242313.1(TMEM191B):c.56G>A (p.Arg19Lys)	TMEM191B (R19K)	Single nucleotide variant (missense variant)	not specified	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	AIFM3, ARVCF +46 more	Copy number loss	not provided	GPathogenic
Select item 1879565	GRCh37/hg19 22q11.21(chr22:18834445-21414817)x1	GNB1L, GP1BB +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 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	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 1707429	GRCh37/hg19 22q11.21(chr22:20310410-21804886)x1	AIFM3, CRKL +19 more	Copy number loss	See cases	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 1701447	GRCh37/hg19 22q11.21(chr22:18893888-21414817)x1	SEPTIN5, SERPIND1 +45 more	Copy number loss	not provided	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 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	AIFM3, ARVCF +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 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
Select item 983179	GRCh37/hg19 22q11.21(chr22:18765102-21661435)x1	DGCR2, DGCR6 +46 more	Copy number loss	See cases	GPathogenic
Select item 983173	GRCh37/hg19 22q11.21(chr22:18628147-21722313)x3	AIFM3, ARVCF +47 more	Copy number gain	See cases	GPathogenic
Select item 981206	GRCh37/hg19 22q11.1-12.1(chr22:16888899-26483608)x3	RTN4R, SCARF2 +124 more	Copy number gain	Cat eye syndrome +1 more	GPathogenic
Select item 980808	GRCh37/hg19 22q11.21-11.22(chr22:19035089-22672555)x3	AIFM3, ARVCF +60 more	Copy number gain	not provided	GPathogenic
Select item 980804	GRCh37/hg19 22q11.21(chr22:18916842-21011216)x1	ARVCF, C22orf39 +35 more	Copy number loss	not provided	GPathogenic
Select item 980803	GRCh37/hg19 22q11.21(chr22:18648866-21465659)x4	AIFM3, ARVCF +46 more	Copy number gain	not provided	GPathogenic

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