ClinVar for Gene (Select 3053) - 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 3242285	GRCh37/hg19 22q11.21(chr22:20730747-21465668)x3	AIFM3, CRKL +12 more	Copy number gain	not provided	GUncertain significance
Select item 3242284	GRCh37/hg19 22q11.21(chr22:18888685-21465668)x1	AIFM3, ARVCF +45 more	Copy number loss	not provided	GPathogenic
Select item 3160468	NM_000185.4(SERPIND1):c.848C>G (p.Pro283Arg)	PI4KA, SERPIND1 (P283R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3160467	NM_000185.4(SERPIND1):c.71C>T (p.Pro24Leu)	PI4KA, SERPIND1 (P24L)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3160466	NM_000185.4(SERPIND1):c.584T>C (p.Ile195Thr)	PI4KA, SERPIND1 (I195T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3160465	NM_000185.4(SERPIND1):c.1181T>C (p.Leu394Pro)	PI4KA, SERPIND1 (L394P)	Single nucleotide variant (missense variant +1 more)	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 3148918	GRCh37/hg19 22q11.21(chr22:20723686-21800471)x1	AIFM3, CRKL +15 more	Copy number loss	not provided	GUncertain significance
Select item 3148900	GRCh37/hg19 22q11.21(chr22:20730144-21464764)x1	AIFM3, CRKL +12 more	Copy number loss	See cases	GUncertain significance
Select item 3148859	GRCh37/hg19 22q11.21(chr22:18919478-21927646)x3	AIFM3, ARVCF +50 more	Copy number gain	not provided	GPathogenic
Select item 3148843	GRCh37/hg19 22q11.21(chr22:20716877-21800471)x1	AIFM3, CRKL +15 more	Copy number loss	not provided	GUncertain significance
Select item 3067218	NM_000185.4(SERPIND1):c.437A>T (p.Asn146Ile)	PI4KA, SERPIND1 (N146I)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 3062452	GRCh37/hg19 22q11.21(chr22:21059669-21202879)x3	PI4KA, SERPIND1	Copy number gain	not specified	GUncertain significance
Select item 3055203	NM_000185.4(SERPIND1):c.420G>C (p.Val140=)	PI4KA, SERPIND1	Single nucleotide variant (synonymous variant +1 more)	SERPIND1-related disorder	GLikely benign
Select item 3051436	NM_000185.4(SERPIND1):c.1338C>T (p.Asn446=)	PI4KA, SERPIND1	Single nucleotide variant (synonymous variant +1 more)	SERPIND1-related disorder	GLikely benign
Select item 3049326	NM_000185.4(SERPIND1):c.286G>A (p.Val96Ile)	PI4KA, SERPIND1 (V96I)	Single nucleotide variant (missense variant +1 more)	SERPIND1-related disorder	GLikely benign
Select item 3049069	NM_000185.4(SERPIND1):c.830C>T (p.Ala277Val)	PI4KA, SERPIND1 (A277V)	Single nucleotide variant (missense variant +1 more)	SERPIND1-related disorder	GLikely benign
Select item 3043506	NM_000185.4(SERPIND1):c.999C>T (p.Leu333=)	PI4KA, SERPIND1	Single nucleotide variant (synonymous variant +1 more)	SERPIND1-related disorder	GLikely benign
Select item 3041598	NM_000185.4(SERPIND1):c.118C>T (p.Pro40Ser)	PI4KA, SERPIND1 (P40S)	Single nucleotide variant (missense variant +1 more)	SERPIND1-related disorder	GLikely benign
Select item 3033976	NM_000185.4(SERPIND1):c.1325C>T (p.Thr442Met)	PI4KA, SERPIND1 (T442M)	Single nucleotide variant (missense variant +1 more)	SERPIND1-related disorder	GLikely benign
Select item 3030144	NM_000185.4(SERPIND1):c.465C>T (p.Pro155=)	PI4KA, SERPIND1	Single nucleotide variant (synonymous variant +1 more)	SERPIND1-related disorder	GLikely benign
Select item 3027360	NM_000185.4(SERPIND1):c.1441G>A (p.Glu481Lys)	PI4KA, SERPIND1 (E481K)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 3026677	NM_000185.4(SERPIND1):c.1164-6G>T	PI4KA, SERPIND1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 3025672	NM_000185.4(SERPIND1):c.973A>G (p.Met325Val)	PI4KA, SERPIND1 (M325V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3024620	GRCh37/hg19 22q11.21(chr22:21061979-21418457)x3	AIFM3, CRKL +7 more	Copy number gain	not provided	GUncertain significance
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 2652918	NM_000185.4(SERPIND1):c.1403G>A (p.Arg468His)	PI4KA, SERPIND1 (R468H)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2652917	NM_000185.4(SERPIND1):c.1395C>T (p.Thr465=)	PI4KA, SERPIND1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2652916	NM_000185.4(SERPIND1):c.1107C>T (p.Leu369=)	PI4KA, SERPIND1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2652915	NM_000185.4(SERPIND1):c.18C>T (p.Asn6=)	PI4KA, SERPIND1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2608699	NM_000185.4(SERPIND1):c.800T>G (p.Met267Arg)	PI4KA, SERPIND1 (M267R)	Single nucleotide variant (missense variant +1 more)	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 2580299	GRCh37/hg19 22q11.21(chr22:20609932-21576553)x1	AIFM3, CRKL +14 more	Copy number loss	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 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 2572128	NM_000185.4(SERPIND1):c.1338C>A (p.Asn446Lys)	PI4KA, SERPIND1 (N446K)	Single nucleotide variant (missense variant +1 more)	Thrombus	GUncertain significance
Select item 2572113	NM_000185.4(SERPIND1):c.1147A>T (p.Lys383Ter)	PI4KA, SERPIND1 (K383*)	Single nucleotide variant (nonsense +1 more)	Hemorrhage	GLikely pathogenic
Select item 2571168	GRCh37/hg19 22q11.21(chr22:18893888-21481925)x1	CLTCL1, AIFM3 +45 more	Copy number loss	not provided	GPathogenic
Select item 2507384	NM_000185.4(SERPIND1):c.218G>A (p.Gly73Glu)	PI4KA, SERPIND1 (G73E)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2499638	GRCh38/hg38 22q11.21(chr22:20354589-21405291)	LINC01637, LINC01651 +72 more	Copy number loss	22q11.2 central deletion syndrome	GUncertain significance
Select item 2498202	Single allele	AIFM3, ARVCF +190 more	Deletion	22q11.2 deletion syndrome	GPathogenic
Select item 2490816	NM_000185.4(SERPIND1):c.863T>C (p.Met288Thr)	PI4KA, SERPIND1 (M288T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2470000	NM_000185.4(SERPIND1):c.622C>T (p.Arg208Cys)	PI4KA, SERPIND1 (R208C)	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 2320647	NM_000185.4(SERPIND1):c.229G>A (p.Asp77Asn)	PI4KA, SERPIND1 (D77N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2260829	NM_000185.4(SERPIND1):c.1396C>G (p.Gln466Glu)	PI4KA, SERPIND1 (Q466E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2255600	NM_000185.4(SERPIND1):c.532C>T (p.His178Tyr)	PI4KA, SERPIND1 (H178Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2244253	NM_000185.4(SERPIND1):c.512G>A (p.Gly171Glu)	PI4KA, SERPIND1 (G171E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2240949	NM_000185.4(SERPIND1):c.40A>G (p.Ile14Val)	PI4KA, SERPIND1 (I14V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2229137	NM_000185.4(SERPIND1):c.1207T>C (p.Tyr403His)	PI4KA, SERPIND1 (Y403H)	Single nucleotide variant (missense variant +1 more)	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 1810318	GRCh37/hg19 22q11.21(chr22:21119425-21431174)x3	AIFM3, CRKL +7 more	Copy number gain	not provided	Gnot provided
Select item 1808868	GRCh37/hg19 22q11.21(chr22:21062134-21465662)x3	AIFM3, CRKL +7 more	Copy number gain	not provided	GUncertain significance
Select item 1808807	GRCh37/hg19 22q11.21(chr22:20980876-21129147)x3	PI4KA, SERPIND1	Copy number gain	not provided	GUncertain significance
Select item 1808742	GRCh37/hg19 22q11.21(chr22:20716877-21465659)x1	AIFM3, CRKL +12 more	Copy number loss	not provided	GLikely pathogenic
Select item 1808741	GRCh37/hg19 22q11.21(chr22:18916843-21465659)x1	AIFM3, ARVCF +44 more	Copy number loss	not provided	GPathogenic
Select item 1808690	GRCh37/hg19 22q11.21(chr22:20725318-21800797)x1	AIFM3, CRKL +15 more	Copy number loss	not provided	GLikely pathogenic
Select item 1808679	GRCh37/hg19 22q11.21(chr22:19336598-21208828)x1	ARVCF, C22orf39 +30 more	Copy number loss	not provided	GPathogenic
Select item 1808672	GRCh37/hg19 22q11.21(chr22:21049800-21465662)x1	AIFM3, CRKL +7 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 1808607	GRCh37/hg19 22q11.21-11.22(chr22:21029656-22485776)x3	AIFM3, CCDC116 +23 more	Copy number gain	not provided	GPathogenic
Select item 1808461	GRCh37/hg19 22q11.21(chr22:21059670-21286988)x3	CRKL, PI4KA +2 more	Copy number gain	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 1808386	GRCh37/hg19 22q11.21(chr22:21103226-21260113)x1	PI4KA, SERPIND1 +1 more	Copy number loss	not provided	GUncertain significance
Select item 1807875	GRCh37/hg19 22q11.21(chr22:19647905-21153690)x1	ARVCF, COMT +24 more	Copy number loss	not provided	GPathogenic
Select item 1807784	GRCh37/hg19 22q11.21(chr22:21092648-21465662)x1	AIFM3, CRKL +7 more	Copy number loss	not provided	GLikely pathogenic
Select item 1807748	GRCh37/hg19 22q11.21(chr22:20728957-21800797)x1	P2RX6, RIMBP3B +15 more	Copy number loss	not provided	GLikely pathogenic
Select item 1807726	GRCh37/hg19 22q11.21(chr22:18916843-21800471)x1	C22orf39, AIFM3 +47 more	Copy number loss	not provided	GPathogenic
Select item 1807721	GRCh37/hg19 22q11.21(chr22:20725309-21804563)x1	AIFM3, CRKL +15 more	Copy number loss	not provided	GLikely pathogenic
Select item 1807719	GRCh37/hg19 22q11.21(chr22:18916843-21804563)x3	AIFM3, ARVCF +47 more	Copy number gain	not provided	GPathogenic
Select item 1807715	GRCh37/hg19 22q11.21(chr22:20728957-21798907)x1	AIFM3, CRKL +15 more	Copy number loss	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 1804598	NM_000185.4(SERPIND1):c.1168C>T (p.Arg390Ter)	SERPIND1, PI4KA (R390*)	Single nucleotide variant (nonsense +1 more)	not provided	GUncertain significance
Select item 1711557	GRCh37/hg19 22q11.21(chr22:18893888-21414817)x3	AIFM3, ARVCF +45 more	Copy number gain	not provided	GPathogenic
Select item 1710921	GRCh37/hg19 22q11.21(chr22:20725308-21465659)x1	AIFM3, CRKL +12 more	Copy number loss	See cases	GPathogenic
Select item 1710917	GRCh37/hg19 22q11.21(chr22:18916842-21465659)x1	AIFM3, ARVCF +44 more	Copy number loss	See cases	GPathogenic
Select item 1708461	GRCh37/hg19 22q11.21(chr22:20732808-21800471)x1	HIC2, KLHL22 +14 more	Copy number loss	See cases	GPathogenic
Select item 1708268	GRCh37/hg19 22q11.21(chr22:20732808-21465659)x1	AIFM3, CRKL +11 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 1703646	GRCh37/hg19 22q11.21(chr22:20732808-21465659)	AIFM3, CRKL +11 more	Copy number gain	Chromosome 22q11.2 microduplication syndrome	GLikely pathogenic
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

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