440804[Gene ID] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144164	GRCh38/hg38 22q11.1-13.33(chr22:16916608-50739836)x3	IL17RA, LINC01640 +2088 more	Copy number gain	See cases	GPathogenic
Select item 59279	GRCh38/hg38 22q11.1-11.23(chr22:16916608-24358936)x3	LOC130067034, LOC130067035 +535 more	Copy number gain	See cases	GPathogenic
Select item 145336	GRCh38/hg38 22q11.1-13.33(chr22:16916743-50739785)x3	LOC130067403, LOC130067404 +2088 more	Copy number gain	See cases	GPathogenic
Select item 545257	NC_000022.11:g.(?_18159879)_(21387988_?)del	AIFM3, ARVCF +196 more	Deletion	Schizophrenia	GPathogenic
Select item 58171	GRCh38/hg38 22q11.21(chr22:18169870-21559889)x3	AIFM3, ARVCF +202 more	Copy number gain	See cases	GPathogenic
Select item 150466	GRCh38/hg38 22q11.21-11.22(chr22:18178932-22562620)x3	LOC130066994, LOC130066995 +287 more	Copy number gain	See cases	GPathogenic
Select item 154716	GRCh38/hg38 22q11.21(chr22:18178957-21454720)x1	LOC132090631, LOC132090632 +196 more	Copy number loss	See cases	GPathogenic
Select item 57132	GRCh38/hg38 22q11.21-12.3(chr22:18178957-31821193)x3	ADORA2A, ADORA2A-AS1 +798 more	Copy number gain	See cases	GPathogenic
Select item 161048	GRCh38/hg38 22q11.21(chr22:18339130-21454720)x1	AIFM3, ARVCF +195 more	Copy number loss	See cases	GPathogenic
Select item 160847	GRCh38/hg38 22q11.21(chr22:18339130-21454720)x3	AIFM3, ARVCF +195 more	Copy number gain	See cases	GPathogenic
Select item 154574	GRCh38/hg38 22q11.21(chr22:18339130-21447315)x3	LINC01311, LINC01637 +195 more	Copy number gain	See cases	GPathogenic
Select item 153208	GRCh38/hg38 22q11.21(chr22:18339130-21450597)x1	AIFM3, ARVCF +195 more	Copy number loss	See cases	GPathogenic
Select item 152705	GRCh38/hg38 22q11.21-11.23(chr22:18339130-23480799)x1	AIFM3, ARVCF +378 more	Copy number loss	See cases	GPathogenic
Select item 149129	GRCh38/hg38 22q11.21(chr22:18339130-21454720)x3	LINC00895, LINC00896 +195 more	Copy number gain	See cases	GPathogenic
Select item 147591	GRCh38/hg38 22q11.21(chr22:18339130-21441926)x1	AIFM3, ARVCF +195 more	Copy number loss	See cases	GPathogenic
Select item 58192	GRCh38/hg38 22q11.21(chr22:18339130-21444466)x3	AIFM3, ARVCF +195 more	Copy number gain	See cases	GPathogenic
Select item 57569	GRCh38/hg38 22q11.21(chr22:18339130-21454720)x1	AIFM3, ARVCF +195 more	Copy number loss	See cases	GPathogenic
Select item 34033	GRCh38/hg38 22q11.21(chr22:18339130-21454720)x3	AIFM3, ARVCF +195 more	Copy number gain	See cases	GPathogenic
Select item 148862	GRCh38/hg38 22q11.21(chr22:18389245-21454720)x3	AIFM3, ARVCF +194 more	Copy number gain	See cases	GUncertain significance
Select item 545266	Single allele	GNB1L, GP1BB +166 more	Duplication	Autism	GPathogenic
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 58214	GRCh38/hg38 22q11.21-11.22(chr22:20668552-22358488)x3	AIFM3, CCDC116 +123 more	Copy number gain	See cases	GPathogenic
Select item 145536	GRCh38/hg38 22q11.21-11.22(chr22:20671366-22088366)x3	AIFM3, CCDC116 +101 more	Copy number gain	See cases	GUncertain significance
Select item 57261	GRCh38/hg38 22q11.21-11.22(chr22:20671366-22046408)x3	AIFM3, CCDC116 +101 more	Copy number gain	See cases	GPathogenic
Select item 145120	GRCh38/hg38 22q11.21(chr22:20711594-21583391)x1	AIFM3, CRKL +52 more	Copy number loss	See cases	GPathogenic
Select item 147737	GRCh38/hg38 22q11.21-11.23(chr22:20726972-24197852)x1	AIFM3, BCR +265 more	Copy number loss	See cases	GPathogenic
Select item 148861	GRCh38/hg38 22q11.21-12.3(chr22:20907226-37187347)x3	ADORA2A, ADORA2A-AS1 +823 more	Copy number gain	See cases	GPathogenic
Select item 154610	GRCh38/hg38 22q11.21-11.22(chr22:21151069-22489199)x3	CCDC116, FAM230B +94 more	Copy number gain	See cases	GUncertain significance
Select item 148420	GRCh38/hg38 22q11.21-11.22(chr22:21151069-22617194)x1	CCDC116, FAM230B +102 more	Copy number loss	See cases	GPathogenic
Select item 148419	GRCh38/hg38 22q11.21-11.22(chr22:21151069-22617194)x3	CCDC116, FAM230B +102 more	Copy number gain	See cases	GUncertain significance
Select item 57332	GRCh38/hg38 22q11.21-11.22(chr22:21151069-22562663)x1	CCDC116, FAM230B +99 more	Copy number loss	See cases	GPathogenic
Select item 150486	GRCh38/hg38 22q11.21-11.22(chr22:21151097-22562620)x1	CCDC116, FAM230B +99 more	Copy number loss	See cases	GPathogenic
Select item 149700	GRCh38/hg38 22q11.21-11.23(chr22:21207181-24247140)x3	BCR, C22orf15 +229 more	Copy number gain	See cases	GUncertain significance
Select item 2283604	NM_001128635.2(RIMBP3B):c.3055C>T (p.Arg1019Cys)	RIMBP3B (R1019C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 59326	GRCh38/hg38 22q11.21-11.23(chr22:21386914-23305976)x3	BCR, CCDC116 +177 more	Copy number gain	See cases	GPathogenic
Select item 3154350	NM_001128635.2(RIMBP3B):c.3257C>A (p.Pro1086His)	RIMBP3B (P1086H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2533493	NM_001128635.2(RIMBP3B):c.3266C>T (p.Pro1089Leu)	RIMBP3B (P1089L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2219043	NM_001128635.2(RIMBP3B):c.3273G>T (p.Glu1091Asp)	RIMBP3B (E1091D)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2520056	NM_001128635.2(RIMBP3B):c.3286C>T (p.Arg1096Cys)	RIMBP3B (R1096C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3154351	NM_001128635.2(RIMBP3B):c.3307C>G (p.Leu1103Val)	RIMBP3B (L1103V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2381944	NM_001128635.2(RIMBP3B):c.3325C>T (p.Pro1109Ser)	RIMBP3B (P1109S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2491639	NM_001128635.2(RIMBP3B):c.3343G>A (p.Ala1115Thr)	RIMBP3B (A1115T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2383341	NM_001128635.2(RIMBP3B):c.3347G>C (p.Gly1116Ala)	RIMBP3B (G1116A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3154352	NM_001128635.2(RIMBP3B):c.3367G>T (p.Val1123Phe)	RIMBP3B (V1123F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2226998	NM_001128635.2(RIMBP3B):c.3788A>C (p.Glu1263Ala)	RIMBP3B (E1263A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2281184	NM_001128635.2(RIMBP3B):c.3817A>G (p.Ser1273Gly)	RIMBP3B (S1273G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2284637	NM_001128635.2(RIMBP3B):c.3919C>A (p.Pro1307Thr)	RIMBP3B (P1307T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2281745	NM_001128635.2(RIMBP3B):c.4132G>A (p.Val1378Ile)	RIMBP3B (V1378I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2467467	NM_001128635.2(RIMBP3B):c.4322G>A (p.Gly1441Asp)	RIMBP3B (G1441D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2333390	NM_001128635.2(RIMBP3B):c.4403T>C (p.Met1468Thr)	RIMBP3B (M1468T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2568572	NM_001128635.2(RIMBP3B):c.4531C>T (p.Pro1511Ser)	RIMBP3B (P1511S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2459638	NM_001128635.2(RIMBP3B):c.4534G>A (p.Gly1512Arg)	RIMBP3B (G1512R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3314345	NM_001128635.2(RIMBP3B):c.4555G>A (p.Glu1519Lys)	RIMBP3B (E1519K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3314346	NM_001128635.2(RIMBP3B):c.4681G>A (p.Gly1561Arg)	RIMBP3B (G1561R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2383919	NM_001128635.2(RIMBP3B):c.4759A>G (p.Met1587Val)	RIMBP3B (M1587V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2343851	NM_001128635.2(RIMBP3B):c.4795G>A (p.Ala1599Thr)	RIMBP3B (A1599T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2359679	NM_001128635.2(RIMBP3B):c.4799G>A (p.Gly1600Glu)	RIMBP3B (G1600E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2212073	NM_001128635.2(RIMBP3B):c.4804G>A (p.Val1602Met)	RIMBP3B (V1602M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3154353	NM_001128635.2(RIMBP3B):c.4837G>A (p.Gly1613Arg)	RIMBP3B (G1613R)	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 3148918	GRCh37/hg19 22q11.21(chr22:20723686-21800471)x1	AIFM3, CRKL +15 more	Copy number loss	not provided	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 2685673	GRCh37/hg19 22q11.21-11.22(chr22:21465662-22997928)x1	CCDC116, GGT2 +19 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 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 1807776	GRCh37/hg19 22q11.21-11.22(chr22:21465662-22962962)x1	CCDC116, GGT2 +18 more	Copy number loss	not provided	GPathogenic
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 1807702	GRCh37/hg19 22q11.21(chr22:18916843-21798907)x3	RTL10, RTN4R +47 more	Copy number gain	not provided	GPathogenic
Select item 1708461	GRCh37/hg19 22q11.21(chr22:20732808-21800471)x1	HIC2, KLHL22 +14 more	Copy number loss	See cases	GPathogenic
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 1706504	GRCh37/hg19 22q11.21-11.22(chr22:21462566-22962196)x1	CCDC116, GGT2 +18 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 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 1701448	GRCh37/hg19 22q11.21(chr22:21322233-22065138)x1	AIFM3, CCDC116 +15 more	Copy number loss	not provided	GUncertain significance
Select item 1340764	GRCh37/hg19 22q11.21-11.23(chr22:21465661-24631791)x3	BCR, C22orf15 +45 more	Copy number gain	not provided	GPathogenic
Select item 1340542	GRCh37/hg19 22q11.21(chr22:20728957-21915096)x1	AIFM3, CRKL +18 more	Copy number loss	not provided	GPathogenic
Select item 1340046	GRCh37/hg19 22q11.21(chr22:21059669-21804716)x1	SERPIND1, SLC7A4 +10 more	Copy number loss	not provided	GLikely pathogenic
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 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 973580	NC_000022.10:g.21514655_22986816del	CCDC116, GGT2 +18 more	Deletion	Chromosome 22q11.2 deletion syndrome, distal	GPathogenic
Select item 929350	GRCh37/hg19 22q11.21(chr22:18844632-21797812)x1	AIFM3, ARVCF +48 more	Copy number loss	See cases	GPathogenic
Select item 816559	GRCh37/hg19 22q11.21-11.23(chr22:21465661-23666232)x3	BCR, CCDC116 +25 more	Copy number gain	not provided	GPathogenic

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