ClinVar for Gene (Select 150209) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3278987	NM_001386814.1(AIFM3):c.122A>G (p.Gln41Arg)	AIFM3 (Q47R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3278983	NM_001386814.1(AIFM3):c.329C>T (p.Pro110Leu)	AIFM3 (P116L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3278981	NM_001386814.1(AIFM3):c.1028T>C (p.Leu343Pro)	AIFM3 (L349P +1 more)	Single nucleotide variant (missense variant +1 more)	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 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 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 3102764	NM_001386814.1(AIFM3):c.976G>A (p.Val326Met)	AIFM3 (V332M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3102757	NM_001386814.1(AIFM3):c.953G>A (p.Arg318Gln)	AIFM3 (R324Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3102750	NM_001386814.1(AIFM3):c.952C>T (p.Arg318Trp)	AIFM3 (R318W +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3102747	NM_001386814.1(AIFM3):c.94A>T (p.Ser32Cys)	AIFM3 (S32C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3102744	NM_001386814.1(AIFM3):c.940G>A (p.Val314Met)	AIFM3 (V314M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3102734	NM_001386814.1(AIFM3):c.71G>A (p.Arg24Gln)	AIFM3 (R24Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3102725	NM_001386814.1(AIFM3):c.641G>A (p.Arg214Gln)	AIFM3 (R214Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3102717	NM_001386814.1(AIFM3):c.373C>T (p.Arg125Trp)	AIFM3 (R131W +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3102690	NM_001386814.1(AIFM3):c.139C>T (p.Arg47Cys)	AIFM3 (R47C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3102689	NM_001386814.1(AIFM3):c.1252G>A (p.Val418Met)	AIFM3 (V424M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3102681	NM_001386814.1(AIFM3):c.1133G>A (p.Arg378His)	AIFM3 (R378H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3102680	NM_001386814.1(AIFM3):c.1124G>A (p.Arg375His)	AIFM3 (R381H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3102676	NM_001386814.1(AIFM3):c.1103T>G (p.Phe368Cys)	AIFM3 (F368C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3102662	NM_001386814.1(AIFM3):c.1064C>T (p.Ala355Val)	AIFM3 (A355V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3024620	GRCh37/hg19 22q11.21(chr22:21061979-21418457)x3	AIFM3, SNAP29 +7 more	Copy number gain	not provided	GUncertain significance
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 2652925	NM_001386814.1(AIFM3):c.951C>T (p.Ile317=)	AIFM3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2621207	NM_001386814.1(AIFM3):c.161G>T (p.Arg54Leu)	AIFM3 (R54L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2611713	NM_001386814.1(AIFM3):c.584C>T (p.Thr195Ile)	AIFM3 (T195I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2606695	NM_001386814.1(AIFM3):c.1177A>G (p.Met393Val)	AIFM3 (M399V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2598059	NM_001386814.1(AIFM3):c.1094A>T (p.Glu365Val)	AIFM3 (E365V +1 more)	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 2571168	GRCh37/hg19 22q11.21(chr22:18893888-21481925)x1	AIFM3, ARVCF +45 more	Copy number loss	not provided	GPathogenic
Select item 2553751	NM_001386814.1(AIFM3):c.322A>G (p.Lys108Glu)	AIFM3 (K108E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2538225	NM_001386814.1(AIFM3):c.1546G>A (p.Ala516Thr)	AIFM3 (A516T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2530925	NM_001386814.1(AIFM3):c.593T>A (p.Leu198His)	AIFM3 (L204H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2529294	NM_001386814.1(AIFM3):c.343C>T (p.Pro115Ser)	AIFM3 (P121S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2522726	NM_001386814.1(AIFM3):c.367C>T (p.Arg123Cys)	AIFM3 (R123C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2520057	NM_001386814.1(AIFM3):c.1003G>A (p.Val335Met)	AIFM3 (V341M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2511745	NM_001386814.1(AIFM3):c.1012G>A (p.Val338Met)	AIFM3 (V344M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2499638	GRCh38/hg38 22q11.21(chr22:20354589-21405291)	AIFM3, CRKL +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 2476968	NM_001386814.1(AIFM3):c.628G>A (p.Ala210Thr)	AIFM3 (A210T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2454278	NM_001386814.1(AIFM3):c.1097C>T (p.Thr366Met)	AIFM3 (T366M +1 more)	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 2410462	NM_001386814.1(AIFM3):c.686G>A (p.Arg229Gln)	AIFM3 (R229Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2407834	NM_001386814.1(AIFM3):c.1558A>G (p.Lys520Glu)	AIFM3 (K520E +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2399645	NM_001386814.1(AIFM3):c.1222A>G (p.Lys408Glu)	AIFM3 (K414E +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2392486	NM_001386814.1(AIFM3):c.1580A>G (p.Tyr527Cys)	AIFM3, LOC112694767 (Y527C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2373121	NM_001386814.1(AIFM3):c.911T>A (p.Leu304Gln)	AIFM3 (L304Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2364100	NM_001386814.1(AIFM3):c.313C>G (p.Leu105Val)	AIFM3 (L105V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2343720	NM_001386814.1(AIFM3):c.1588G>A (p.Gly530Ser)	AIFM3, LOC112694767 (G530S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2338521	NM_001386814.1(AIFM3):c.1582G>A (p.Gly528Arg)	AIFM3, LOC112694767 (G534R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2323364	NM_001386814.1(AIFM3):c.1178T>G (p.Met393Arg)	AIFM3 (M399R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2293760	NM_001386814.1(AIFM3):c.715A>T (p.Ser239Cys)	AIFM3 (S239C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2276228	NM_001386814.1(AIFM3):c.83A>C (p.Glu28Ala)	AIFM3 (E28A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2274591	NM_001386814.1(AIFM3):c.310G>T (p.Ala104Ser)	AIFM3 (A110S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2217845	NM_001386814.1(AIFM3):c.1693C>A (p.Pro565Thr)	AIFM3 (P565T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2204254	NM_001386814.1(AIFM3):c.89C>T (p.Ser30Leu)	AIFM3 (S30L +1 more)	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	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 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 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 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 1808611	GRCh37/hg19 22q11.21(chr22:21188487-21804597)x1	AIFM3, CRKL +9 more	Copy number loss	not provided	GLikely pathogenic
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 1808421	GRCh37/hg19 22q11.21(chr22:19046677-21465662)x1	CDC45, CLTCL1 +43 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 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

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