RIMBP3[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 57553	GRCh38/hg38 22q11.1-11.21(chr22:16538125-20363937)x1	ADA2, ARVCF +234 more	Copy number loss	See cases	GPathogenic
Select item 154375	GRCh38/hg38 22q11.1-11.21(chr22:16916608-18997006)x4	ADA2, ATP6V1E1 +121 more	Copy number gain	See cases	GPathogenic
Select item 144304	GRCh38/hg38 22q11.1-11.21(chr22:16916608-20354644)x1	ADA2, ARVCF +227 more	Copy number loss	See cases	GPathogenic
Select item 144303	GRCh38/hg38 22q11.1-11.21(chr22:16916608-20354644)x3	ADA2, ARVCF +227 more	Copy number gain	See cases	GPathogenic
Select item 144200	GRCh38/hg38 22q11.1-11.21(chr22:16916608-20343532)x3	LINC01664, LINC02891 +226 more	Copy number gain	See cases	GPathogenic
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 57427	GRCh38/hg38 22q11.1-11.21(chr22:16916608-18718532)x3	ADA2, ATP6V1E1 +114 more	Copy number gain	See cases	GPathogenic
Select item 57203	GRCh38/hg38 22q11.1-11.21(chr22:16916608-20324240)x1	ADA2, ARVCF +225 more	Copy number loss	See cases	GPathogenic
Select item 57202	GRCh38/hg38 22q11.1-11.21(chr22:16916608-20324240)x3	ADA2, ARVCF +225 more	Copy number gain	See cases	GPathogenic
Select item 57029	GRCh38/hg38 22q11.1-11.21(chr22:16916608-21151128)x3	LOC132090637, LOC132090638 +292 more	Copy number gain	See cases	GPathogenic
Select item 149666	GRCh38/hg38 22q11.1-11.21(chr22:16916743-18718546)x3	ADA2, ATP6V1E1 +114 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 144589	GRCh38/hg38 22q11.1-11.21(chr22:16916743-19597367)x3	ADA2, ATP6V1E1 +151 more	Copy number gain	See cases	GPathogenic
Select item 59280	GRCh38/hg38 22q11.21(chr22:18050488-18955291)x3	DGCR6, FAM230A +29 more	Copy number gain	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 160947	GRCh38/hg38 22q11.21(chr22:18145252-21151128)x1	CLDN5, AIFM3 +189 more	Copy number loss	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 33017	GRCh38/hg38 22q11.21(chr22:18145252-21151128)x1	AIFM3, ARVCF +189 more	Copy number loss	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 153292	GRCh38/hg38 22q11.21(chr22:18157962-21111370)x3	LOC112694767, LOC114004361 +187 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 545256	NC_000022.11:g.(?_18159879)_(21362822_?)del	AIFM3, ARVCF +195 more	Deletion	Schizophrenia	GPathogenic
Select item 153966	GRCh38/hg38 22q11.21(chr22:18161474-21111373)x1	AIFM3, ARVCF +187 more	Copy number loss	See cases	GPathogenic
Select item 545258	NC_000022.11:g.(?_18163926)_(21277123_?)del	PI4KA, PRODH +192 more	Deletion	Schizophrenia	GPathogenic
Select item 154119	GRCh38/hg38 22q11.21(chr22:18166089-21111373)x1	AIFM3, ARVCF +187 more	Copy number loss	See cases	GPathogenic
Select item 57556	GRCh38/hg38 22q11.21(chr22:18167908-21101267)x1	LOC130067020, LOC132090627 +187 more	Copy number loss	See cases	GPathogenic
Select item 57555	GRCh38/hg38 22q11.21(chr22:18167908-21101267)x3	AIFM3, ARVCF +187 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 58171	GRCh38/hg38 22q11.21(chr22:18169870-21559889)x3	AIFM3, ARVCF +202 more	Copy number gain	See cases	GPathogenic
Select item 57558	GRCh38/hg38 22q11.21(chr22:18177786-21101267)x1	AIFM3, ARVCF +186 more	Copy number loss	See cases	GPathogenic
Select item 57557	GRCh38/hg38 22q11.21(chr22:18177786-21101267)x3	AIFM3, ARVCF +186 more	Copy number gain	See cases	GPathogenic
Select item 154757	GRCh38/hg38 22q11.21(chr22:18178932-18996999)x3	DGCR5, DGCR6 +15 more	Copy number gain	See cases	GLikely benign
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 150209	GRCh38/hg38 22q11.21(chr22:18178932-18843315)x3	FAM230A, FAM230D +9 more	Copy number gain	See cases	GLikely benign
Select item 149771	GRCh38/hg38 22q11.21(chr22:18178932-19023018)x3	DGCR5, DGCR6 +15 more	Copy number gain	See cases	GLikely benign
Select item 149440	GRCh38/hg38 22q11.21(chr22:18178932-18860507)x3	FAM230A, FAM230D +9 more	Copy number gain	See cases	GLikely benign
Select item 149367	GRCh38/hg38 22q11.21(chr22:18178932-18996999)x1	DGCR5, DGCR6 +15 more	Copy number loss	See cases	GLikely benign
Select item 144691	GRCh38/hg38 22q11.21(chr22:18178932-21151156)x1	AIFM3, ARVCF +186 more	Copy number loss	See cases	GPathogenic
Select item 144688	GRCh38/hg38 22q11.21(chr22:18178932-21151156)x3	AIFM3, ARVCF +186 more	Copy number gain	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 160956	GRCh38/hg38 22q11.21(chr22:18178957-21207225)x1	AIFM3, ARVCF +190 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 154716	GRCh38/hg38 22q11.21(chr22:18178957-21454720)x1	LOC132090631, LOC132090632 +196 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 149698	GRCh38/hg38 22q11.21(chr22:18178957-21109830)x1	AIFM3, ARVCF +186 more	Copy number loss	See cases	GPathogenic
Select item 148430	GRCh38/hg38 22q11.21(chr22:18178957-21107522)x1	AIFM3, ARVCF +186 more	Copy number loss	See cases	GPathogenic
Select item 147308	GRCh38/hg38 22q11.21(chr22:18178957-21307146)x3	LOC130067003, LOC130067004 +192 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 144223	GRCh38/hg38 22q11.21(chr22:18178957-18997006)x3	DGCR5, DGCR6 +15 more	Copy number gain	See cases	GUncertain significance
Select item 57464	GRCh38/hg38 22q11.21(chr22:18178957-21151128)x3	AIFM3, ARVCF +186 more	Copy number gain	See cases	GPathogenic
Select item 57452	GRCh38/hg38 22q11.21(chr22:18178957-20324240)x3	ARVCF, C22orf39 +119 more	Copy number gain	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 32794	GRCh38/hg38 22q11.21(chr22:18178957-21086225)x1	AIFM3, ARVCF +186 more	Copy number loss	See cases	GPathogenic
Select item 32638	GRCh38/hg38 22q11.21(chr22:18178957-21207225)x1	AIFM3, ARVCF +190 more	Copy number loss	See cases	GPathogenic
Select item 32253	GRCh38/hg38 22q11.21(chr22:18178957-21151128)x1	AIFM3, ARVCF +186 more	Copy number loss	See cases	GPathogenic
Select item 57559	GRCh38/hg38 22q11.21(chr22:18188862-21182552)x1	AIFM3, ARVCF +189 more	Copy number loss	See cases	GPathogenic
Select item 2498202	Single allele	AIFM3, ARVCF +190 more	Deletion	22q11.2 deletion syndrome	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 160984	GRCh38/hg38 22q11.21(chr22:18339130-21086225)x3	AIFM3, ARVCF +185 more	Copy number gain	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 160938	GRCh38/hg38 22q11.21(chr22:18339130-21086225)x3	AIFM3, ARVCF +185 more	Copy number gain	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 160782	GRCh38/hg38 22q11.21(chr22:18339130-21207225)x3	AIFM3, ARVCF +189 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 154667	GRCh38/hg38 22q11.21(chr22:18339130-21307146)x1	LOC130066953, LOC130066954 +191 more	Copy number loss	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 154479	GRCh38/hg38 22q11.21(chr22:18339130-20343532)x1	ARVCF, C22orf39 +119 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 153666	GRCh38/hg38 22q11.21(chr22:18339130-20686726)x1	ARVCF, C22orf39 +147 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 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 152705	GRCh38/hg38 22q11.21-11.23(chr22:18339130-23480799)x1	AIFM3, ARVCF +378 more	Copy number loss	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 150093	GRCh38/hg38 22q11.21(chr22:18339130-21151156)x3	LOC130067010, LOC130067011 +185 more	Copy number gain	See cases	GPathogenic
Select item 149447	GRCh38/hg38 22q11.21(chr22:18339130-18659564)x3	FAM230A, FAM230J +7 more	Copy number gain	See cases	GLikely benign
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 148898	GRCh38/hg38 22q11.21(chr22:18339130-21109830)x1	LOC130067014, LOC130067015 +185 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

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