ClinVar for Gene (Select 25786) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 2498202	Single allele	AIFM3, ARVCF +190 more	Deletion	22q11.2 deletion syndrome	GPathogenic
Select item 1703237	Single allele	LOC108510655, LOC110120888 +169 more	Duplication	Chromosome 22q11.2 microduplication syndrome	GPathogenic
Select item 1703235	Single allele	DGCR11, LOC130066973 +169 more	Deletion	Chromosome 22q11.2 deletion syndrome, distal	GPathogenic
Select item 1684640	Single allele	LOC130066986, LOC130066994 +170 more	Deletion	Velocardiofacial syndrome	GPathogenic
Select item 545265	Single allele	FAM246C, FAM247A +179 more	Duplication	Autism	GPathogenic
Select item 545264	Single allele	DGCR2, DGCR5 +107 more	Duplication	Autism	GPathogenic
Select item 545263	NC_000022.11:g.(?_18880919)_(21123588_?)del	LOC132090919, LOC132090920 +175 more	Deletion	Schizophrenia	GPathogenic
Select item 545262	NC_000022.11:g.(?_18880919)_(20346734_?)del	MIR185, MIR3618 +109 more	Deletion	Schizophrenia	GPathogenic
Select item 545261	NC_000022.11:g.(?_18846939)_(21221413_?)del	LOC130067012, LOC130067013 +180 more	Deletion	Schizophrenia	GPathogenic
Select item 545260	NC_000022.11:g.(?_18832909)_(21123588_?)del	AIFM3, ARVCF +175 more	Deletion	Schizophrenia	GPathogenic
Select item 545259	NC_000022.11:g.(?_18802709)_(21343709_?)del	AIFM3, ARVCF +181 more	Deletion	Schizophrenia	GPathogenic
Select item 545258	NC_000022.11:g.(?_18163926)_(21277123_?)del	PI4KA, PRODH +192 more	Deletion	Schizophrenia	GPathogenic
Select item 545257	NC_000022.11:g.(?_18159879)_(21387988_?)del	AIFM3, ARVCF +196 more	Deletion	Schizophrenia	GPathogenic
Select item 545256	NC_000022.11:g.(?_18159879)_(21362822_?)del	AIFM3, ARVCF +195 more	Deletion	Schizophrenia	GPathogenic
Select item 161087	GRCh38/hg38 22q11.21(chr22:18339130-20343532)x1	ARVCF, C22orf39 +119 more	Copy number loss	See cases	GPathogenic
Select item 161049	GRCh38/hg38 22q11.21(chr22:18339130-20354644)x1	ARVCF, C22orf39 +120 more	Copy number loss	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 161042	GRCh38/hg38 22q11.21(chr22:18178957-21151128)x3	AIFM3, ARVCF +186 more	Copy number gain	See cases	GPathogenic
Select item 160984	GRCh38/hg38 22q11.21(chr22:18339130-21086225)x3	AIFM3, ARVCF +185 more	Copy number gain	See cases	GPathogenic
Select item 160956	GRCh38/hg38 22q11.21(chr22:18178957-21207225)x1	AIFM3, ARVCF +190 more	Copy number loss	See cases	GPathogenic
Select item 160954	GRCh38/hg38 22q11.21(chr22:18339130-20343532)x3	ARVCF, C22orf39 +119 more	Copy number gain	See cases	GPathogenic
Select item 160947	GRCh38/hg38 22q11.21(chr22:18145252-21151128)x1	CLDN5, AIFM3 +189 more	Copy number loss	See cases	GPathogenic
Select item 160938	GRCh38/hg38 22q11.21(chr22:18339130-21086225)x3	AIFM3, ARVCF +185 more	Copy number gain	See cases	GPathogenic
Select item 160932	GRCh38/hg38 22q11.21(chr22:18932429-20324240)x1	ARVCF, C22orf39 +106 more	Copy number loss	See cases	GPathogenic
Select item 160922	GRCh38/hg38 22q11.21(chr22:18339130-21207225)x1	AIFM3, ARVCF +189 more	Copy number loss	See cases	GPathogenic
Select item 160891	GRCh38/hg38 22q11.21(chr22:18339130-21086225)x1	AIFM3, ARVCF +185 more	Copy number loss	See cases	GPathogenic
Select item 160849	GRCh38/hg38 22q11.21(chr22:18339130-21151128)x1	AIFM3, ARVCF +185 more	Copy number loss	See cases	GPathogenic
Select item 160848	GRCh38/hg38 22q11.21(chr22:18339130-21151128)x3	AIFM3, ARVCF +185 more	Copy number gain	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 160846	GRCh38/hg38 22q11.21(chr22:18339130-21086225)x1	LOC130067005, LOC130067006 +185 more	Copy number loss	See cases	GPathogenic
Select item 160845	GRCh38/hg38 22q11.21(chr22:18339130-21151128)x1	AIFM3, ARVCF +185 more	Copy number loss	See cases	GPathogenic
Select item 160843	GRCh38/hg38 22q11.21(chr22:18178957-21086225)x1	AIFM3, ARVCF +186 more	Copy number loss	See cases	GPathogenic
Select item 160782	GRCh38/hg38 22q11.21(chr22:18339130-21207225)x3	AIFM3, ARVCF +189 more	Copy number gain	See cases	GPathogenic
Select item 155439	GRCh38/hg38 22q11.21(chr22:18929329-20325138)x3	ARVCF, C22orf39 +106 more	Copy number gain	See cases	GPathogenic
Select item 155375	GRCh38/hg38 22q11.21(chr22:18339130-21111373)x1	AIFM3, ARVCF +185 more	Copy number loss	See cases	GPathogenic
Select item 155324	GRCh38/hg38 22q11.21(chr22:18339130-21111370)x3	AIFM3, ARVCF +185 more	Copy number gain	See cases	GPathogenic
Select item 155295	GRCh38/hg38 22q11.21(chr22:18339130-21111373)x1	AIFM3, ARVCF +185 more	Copy number loss	See cases	GPathogenic
Select item 155226	GRCh38/hg38 22q11.21(chr22:18339130-21111370)x1	AIFM3, ARVCF +185 more	Copy number loss	See cases	GPathogenic
Select item 155167	GRCh38/hg38 22q11.21(chr22:18339130-21111370)x1	AIFM3, ARVCF +185 more	Copy number loss	See cases	GPathogenic
Select item 155162	GRCh38/hg38 22q11.21(chr22:18339130-21111370)x3	LOC130066971, LOC130066972 +185 more	Copy number gain	See cases	GPathogenic
Select item 155158	GRCh38/hg38 22q11.21(chr22:18339130-21111373)x1	AIFM3, ARVCF +185 more	Copy number loss	See cases	GPathogenic
Select item 155059	GRCh38/hg38 22q11.21(chr22:18339130-21111373)x1	LOC130067008, LOC130067009 +185 more	Copy number loss	See cases	GPathogenic
Select item 154921	GRCh38/hg38 22q11.21(chr22:18389245-21109830)x1	AIFM3, ARVCF +184 more	Copy number loss	See cases	GUncertain significance
Select item 154716	GRCh38/hg38 22q11.21(chr22:18178957-21454720)x1	LOC132090631, LOC132090632 +196 more	Copy number loss	See cases	GPathogenic
Select item 154667	GRCh38/hg38 22q11.21(chr22:18339130-21307146)x1	LOC130066953, LOC130066954 +191 more	Copy number loss	See cases	GPathogenic
Select item 154603	GRCh38/hg38 22q11.21(chr22:18389245-21151128)x1	AIFM3, ARVCF +184 more	Copy number loss	See cases	GUncertain significance
Select item 154574	GRCh38/hg38 22q11.21(chr22:18339130-21447315)x3	LINC01311, LINC01637 +195 more	Copy number gain	See cases	GPathogenic
Select item 154479	GRCh38/hg38 22q11.21(chr22:18339130-20343532)x1	ARVCF, C22orf39 +119 more	Copy number loss	See cases	GPathogenic
Select item 154119	GRCh38/hg38 22q11.21(chr22:18166089-21111373)x1	AIFM3, ARVCF +187 more	Copy number loss	See cases	GPathogenic
Select item 153966	GRCh38/hg38 22q11.21(chr22:18161474-21111373)x1	AIFM3, ARVCF +187 more	Copy number loss	See cases	GPathogenic
Select item 153820	GRCh38/hg38 22q11.21(chr22:18339130-21111370)x1	AIFM3, ARVCF +185 more	Copy number loss	See cases	GPathogenic
Select item 153702	GRCh38/hg38 22q11.21(chr22:18929329-20324335)x1	ARVCF, C22orf39 +106 more	Copy number loss	See cases	GPathogenic
Select item 153666	GRCh38/hg38 22q11.21(chr22:18339130-20686726)x1	ARVCF, C22orf39 +147 more	Copy number loss	See cases	GPathogenic
Select item 153565	GRCh38/hg38 22q11.21(chr22:18929329-20325138)x1	LOC130066989, LOC130066990 +106 more	Copy number loss	See cases	GPathogenic
Select item 153361	GRCh38/hg38 22q11.21(chr22:18339130-20980781)x1	AIFM3, ARVCF +170 more	Copy number loss	See cases	GUncertain significance
Select item 153292	GRCh38/hg38 22q11.21(chr22:18157962-21111370)x3	LOC112694767, LOC114004361 +187 more	Copy number gain	See cases	GPathogenic
Select item 153245	GRCh38/hg38 22q11.21(chr22:18339130-21111370)x1	AIFM3, ARVCF +185 more	Copy number loss	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 152915	GRCh38/hg38 22q11.21(chr22:18178957-21107463)x3	AIFM3, ARVCF +186 more	Copy number gain	See cases	GPathogenic
Select item 152818	GRCh38/hg38 22q11.21(chr22:18907322-19380404)x3	CLTCL1, DGCR11 +19 more	Copy number gain	See cases	GUncertain significance
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 152384	GRCh38/hg38 22q11.21(chr22:18929315-20325138)x3	ARVCF, C22orf39 +106 more	Copy number gain	See cases	GPathogenic
Select item 152266	GRCh38/hg38 22q11.21(chr22:18339130-21109830)x1	LOC130067004, LOC130067005 +185 more	Copy number loss	See cases	GPathogenic
Select item 152138	GRCh38/hg38 22q11.21(chr22:18339130-21101210)x1	AIFM3, ARVCF +185 more	Copy number loss	See cases	GPathogenic
Select item 151229	GRCh38/hg38 22q11.21(chr22:18339130-21111373)x3	AIFM3, ARVCF +185 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 150093	GRCh38/hg38 22q11.21(chr22:18339130-21151156)x3	LOC130067010, LOC130067011 +185 more	Copy number gain	See cases	GPathogenic
Select item 149698	GRCh38/hg38 22q11.21(chr22:18178957-21109830)x1	AIFM3, ARVCF +186 more	Copy number loss	See cases	GPathogenic
Select item 149307	GRCh38/hg38 22q11.21(chr22:18339130-21109830)x1	AIFM3, ARVCF +185 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 149111	GRCh38/hg38 22q11.21(chr22:18339130-21107522)x1	AIFM3, ARVCF +185 more	Copy number loss	See cases	GPathogenic
Select item 148964	GRCh38/hg38 22q11.21(chr22:18907322-20324261)x3	COMT, CLTCL1 +107 more	Copy number gain	See cases	GPathogenic
Select item 148923	GRCh38/hg38 22q11.21(chr22:18145252-21109830)x1	LINC01637, LINC02891 +189 more	Copy number loss	See cases	GPathogenic
Select item 148898	GRCh38/hg38 22q11.21(chr22:18339130-21109830)x1	LOC130067014, LOC130067015 +185 more	Copy number loss	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 148733	GRCh38/hg38 22q11.21(chr22:18996947-19643820)x3	GSC2, HIRA +31 more	Copy number gain	See cases	GUncertain significance
Select item 148430	GRCh38/hg38 22q11.21(chr22:18178957-21107522)x1	AIFM3, ARVCF +186 more	Copy number loss	See cases	GPathogenic
Select item 147730	GRCh38/hg38 22q11.21(chr22:18087546-19196905)x3	CLTCL1, DGCR11 +38 more	Copy number gain	See cases	GPathogenic
Select item 147671	GRCh38/hg38 22q11.21(chr22:18909459-20324240)x1	ARVCF, C22orf39 +107 more	Copy number loss	See cases	GPathogenic
Select item 147645	GRCh38/hg38 22q11.21(chr22:18339130-21028664)x1	AIFM3, ARVCF +181 more	Copy number loss	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 147498	GRCh38/hg38 22q11.21(chr22:18339130-21086225)x1	AIFM3, ARVCF +185 more	Copy number loss	See cases	GPathogenic
Select item 147382	GRCh38/hg38 22q11.21(chr22:18718488-20324240)x1	ARVCF, C22orf39 +109 more	Copy number loss	See cases	GPathogenic
Select item 147320	GRCh38/hg38 22q11.21(chr22:18339130-21151128)x1	LINC01637, LOC114004361 +185 more	Copy number loss	See cases	GUncertain significance
Select item 147308	GRCh38/hg38 22q11.21(chr22:18178957-21307146)x3	LOC130067003, LOC130067004 +192 more	Copy number gain	See cases	GPathogenic
Select item 146640	GRCh38/hg38 22q11.21(chr22:18339130-21003834)x3	AIFM3, ARVCF +179 more	Copy number gain	See cases	GPathogenic
Select item 146436	GRCh38/hg38 22q11.21(chr22:18932429-20324240)x3	ARVCF, C22orf39 +106 more	Copy number gain	See cases	GPathogenic
Select item 146314	GRCh38/hg38 22q11.21(chr22:18178957-20343532)x1	ARVCF, C22orf39 +120 more	Copy number loss	See cases	GPathogenic
Select item 146204	GRCh38/hg38 22q11.21(chr22:18178957-21086225)x3	AIFM3, ARVCF +186 more	Copy number gain	See cases	GPathogenic
Select item 146195	GRCh38/hg38 22q11.21(chr22:18339130-20354644)x3	ARVCF, C22orf39 +120 more	Copy number gain	See cases	GPathogenic
Select item 146133	GRCh38/hg38 22q11.21(chr22:18339130-21207225)x3	LOC130067014, LOC130067015 +189 more	Copy number gain	See cases	GPathogenic
Select item 145982	GRCh38/hg38 22q11.21(chr22:18168847-21086166)x3	CDC45, CLDN5 +186 more	Copy number gain	See cases	GPathogenic
Select item 145469	GRCh38/hg38 22q11.21(chr22:18145380-21086226)x1	LOC132090918, LOC132090919 +189 more	Copy number loss	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 145118	GRCh38/hg38 22q11.21(chr22:18339130-21107463)x1	AIFM3, ARVCF +185 more	Copy number loss	See cases	GPathogenic
Select item 145117	GRCh38/hg38 22q11.21(chr22:18339130-21107463)x3	CDC45, CLDN5 +185 more	Copy number gain	See cases	GPathogenic

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