TBX1[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 +236 more	Copy number loss	See cases	GPathogenic
Select item 144304	GRCh38/hg38 22q11.1-11.21(chr22:16916608-20354644)x1	MIR3198-1, MIR3618 +229 more	Copy number loss	See cases	GPathogenic
Select item 144303	GRCh38/hg38 22q11.1-11.21(chr22:16916608-20354644)x3	ADA2, ARVCF +229 more	Copy number gain	See cases	GPathogenic
Select item 144200	GRCh38/hg38 22q11.1-11.21(chr22:16916608-20343532)x3	ADA2, ARVCF +228 more	Copy number gain	See cases	GPathogenic
Select item 144164	GRCh38/hg38 22q11.1-13.33(chr22:16916608-50739836)x3	KIAA1671, L3MBTL2 +2094 more	Copy number gain	See cases	GPathogenic
Select item 59279	GRCh38/hg38 22q11.1-11.23(chr22:16916608-24358936)x3	ADA2, AIFM3 +537 more	Copy number gain	See cases	GPathogenic
Select item 57203	GRCh38/hg38 22q11.1-11.21(chr22:16916608-20324240)x1	ADA2, ARVCF +227 more	Copy number loss	See cases	GPathogenic
Select item 57202	GRCh38/hg38 22q11.1-11.21(chr22:16916608-20324240)x3	ADA2, ARVCF +227 more	Copy number gain	See cases	GPathogenic
Select item 57029	GRCh38/hg38 22q11.1-11.21(chr22:16916608-21151128)x3	ADA2, AIFM3 +294 more	Copy number gain	See cases	GPathogenic
Select item 145336	GRCh38/hg38 22q11.1-13.33(chr22:16916743-50739785)x3	LOC121853044, LOC121853045 +2094 more	Copy number gain	See cases	GPathogenic
Select item 160947	GRCh38/hg38 22q11.21(chr22:18145252-21151128)x1	AIFM3, ARVCF +191 more	Copy number loss	See cases	GPathogenic
Select item 148923	GRCh38/hg38 22q11.21(chr22:18145252-21109830)x1	MRPL40, P2RX6 +191 more	Copy number loss	See cases	GPathogenic
Select item 33017	GRCh38/hg38 22q11.21(chr22:18145252-21151128)x1	AIFM3, ARVCF +191 more	Copy number loss	See cases	GPathogenic
Select item 145469	GRCh38/hg38 22q11.21(chr22:18145380-21086226)x1	AIFM3, ARVCF +191 more	Copy number loss	See cases	GPathogenic
Select item 153292	GRCh38/hg38 22q11.21(chr22:18157962-21111370)x3	AIFM3, ARVCF +189 more	Copy number gain	See cases	GPathogenic
Select item 545257	NC_000022.11:g.(?_18159879)_(21387988_?)del	AIFM3, ARVCF +198 more	Deletion	Schizophrenia	GPathogenic
Select item 545256	NC_000022.11:g.(?_18159879)_(21362822_?)del	AIFM3, ARVCF +197 more	Deletion	Schizophrenia	GPathogenic
Select item 153966	GRCh38/hg38 22q11.21(chr22:18161474-21111373)x1	FAM230F, FAM230G +189 more	Copy number loss	See cases	GPathogenic
Select item 545258	NC_000022.11:g.(?_18163926)_(21277123_?)del	AIFM3, ARVCF +194 more	Deletion	Schizophrenia	GPathogenic
Select item 154119	GRCh38/hg38 22q11.21(chr22:18166089-21111373)x1	AIFM3, ARVCF +189 more	Copy number loss	See cases	GPathogenic
Select item 57556	GRCh38/hg38 22q11.21(chr22:18167908-21101267)x1	AIFM3, ARVCF +189 more	Copy number loss	See cases	GPathogenic
Select item 57555	GRCh38/hg38 22q11.21(chr22:18167908-21101267)x3	AIFM3, ARVCF +189 more	Copy number gain	See cases	GPathogenic
Select item 145982	GRCh38/hg38 22q11.21(chr22:18168847-21086166)x3	AIFM3, ARVCF +188 more	Copy number gain	See cases	GPathogenic
Select item 58171	GRCh38/hg38 22q11.21(chr22:18169870-21559889)x3	AIFM3, ARVCF +204 more	Copy number gain	See cases	GPathogenic
Select item 57558	GRCh38/hg38 22q11.21(chr22:18177786-21101267)x1	AIFM3, ARVCF +188 more	Copy number loss	See cases	GPathogenic
Select item 57557	GRCh38/hg38 22q11.21(chr22:18177786-21101267)x3	AIFM3, ARVCF +188 more	Copy number gain	See cases	GPathogenic
Select item 150466	GRCh38/hg38 22q11.21-11.22(chr22:18178932-22562620)x3	FAM247D, GGT2 +289 more	Copy number gain	See cases	GPathogenic
Select item 144691	GRCh38/hg38 22q11.21(chr22:18178932-21151156)x1	AIFM3, ARVCF +188 more	Copy number loss	See cases	GPathogenic
Select item 144688	GRCh38/hg38 22q11.21(chr22:18178932-21151156)x3	AIFM3, ARVCF +188 more	Copy number gain	See cases	GPathogenic
Select item 161042	GRCh38/hg38 22q11.21(chr22:18178957-21151128)x3	AIFM3, ARVCF +188 more	Copy number gain	See cases	GPathogenic
Select item 160956	GRCh38/hg38 22q11.21(chr22:18178957-21207225)x1	LOC130066997, LOC130066998 +192 more	Copy number loss	See cases	GPathogenic
Select item 160843	GRCh38/hg38 22q11.21(chr22:18178957-21086225)x1	AIFM3, ARVCF +188 more	Copy number loss	See cases	GPathogenic
Select item 154716	GRCh38/hg38 22q11.21(chr22:18178957-21454720)x1	AIFM3, ARVCF +198 more	Copy number loss	See cases	GPathogenic
Select item 152915	GRCh38/hg38 22q11.21(chr22:18178957-21107463)x3	AIFM3, ARVCF +188 more	Copy number gain	See cases	GPathogenic
Select item 149698	GRCh38/hg38 22q11.21(chr22:18178957-21109830)x1	AIFM3, ARVCF +188 more	Copy number loss	See cases	GPathogenic
Select item 148430	GRCh38/hg38 22q11.21(chr22:18178957-21107522)x1	AIFM3, ARVCF +188 more	Copy number loss	See cases	GPathogenic
Select item 147308	GRCh38/hg38 22q11.21(chr22:18178957-21307146)x3	AIFM3, ARVCF +194 more	Copy number gain	See cases	GPathogenic
Select item 146314	GRCh38/hg38 22q11.21(chr22:18178957-20343532)x1	ARVCF, C22orf39 +122 more	Copy number loss	See cases	GPathogenic
Select item 146204	GRCh38/hg38 22q11.21(chr22:18178957-21086225)x3	AIFM3, ARVCF +188 more	Copy number gain	See cases	GPathogenic
Select item 57464	GRCh38/hg38 22q11.21(chr22:18178957-21151128)x3	AIFM3, ARVCF +188 more	Copy number gain	See cases	GPathogenic
Select item 57452	GRCh38/hg38 22q11.21(chr22:18178957-20324240)x3	ARVCF, C22orf39 +121 more	Copy number gain	See cases	GPathogenic
Select item 57132	GRCh38/hg38 22q11.21-12.3(chr22:18178957-31821193)x3	ADORA2A, ADORA2A-AS1 +800 more	Copy number gain	See cases	GPathogenic
Select item 32794	GRCh38/hg38 22q11.21(chr22:18178957-21086225)x1	AIFM3, ARVCF +188 more	Copy number loss	See cases	GPathogenic
Select item 32638	GRCh38/hg38 22q11.21(chr22:18178957-21207225)x1	AIFM3, ARVCF +192 more	Copy number loss	See cases	GPathogenic
Select item 32253	GRCh38/hg38 22q11.21(chr22:18178957-21151128)x1	AIFM3, ARVCF +188 more	Copy number loss	See cases	GPathogenic
Select item 57559	GRCh38/hg38 22q11.21(chr22:18188862-21182552)x1	AIFM3, ARVCF +191 more	Copy number loss	See cases	GPathogenic
Select item 2498202	Single allele	AIFM3, ARVCF +192 more	Deletion	22q11.2 deletion syndrome	GPathogenic
Select item 161087	GRCh38/hg38 22q11.21(chr22:18339130-20343532)x1	ARVCF, C22orf39 +121 more	Copy number loss	See cases	GPathogenic
Select item 161049	GRCh38/hg38 22q11.21(chr22:18339130-20354644)x1	ARVCF, C22orf39 +122 more	Copy number loss	See cases	GPathogenic
Select item 161048	GRCh38/hg38 22q11.21(chr22:18339130-21454720)x1	AIFM3, ARVCF +197 more	Copy number loss	See cases	GPathogenic
Select item 160984	GRCh38/hg38 22q11.21(chr22:18339130-21086225)x3	AIFM3, ARVCF +187 more	Copy number gain	See cases	GPathogenic
Select item 160954	GRCh38/hg38 22q11.21(chr22:18339130-20343532)x3	ARVCF, C22orf39 +121 more	Copy number gain	See cases	GPathogenic
Select item 160938	GRCh38/hg38 22q11.21(chr22:18339130-21086225)x3	AIFM3, ARVCF +187 more	Copy number gain	See cases	GPathogenic
Select item 160922	GRCh38/hg38 22q11.21(chr22:18339130-21207225)x1	AIFM3, ARVCF +191 more	Copy number loss	See cases	GPathogenic
Select item 160891	GRCh38/hg38 22q11.21(chr22:18339130-21086225)x1	AIFM3, ARVCF +187 more	Copy number loss	See cases	GPathogenic
Select item 160849	GRCh38/hg38 22q11.21(chr22:18339130-21151128)x1	AIFM3, ARVCF +187 more	Copy number loss	See cases	GPathogenic
Select item 160848	GRCh38/hg38 22q11.21(chr22:18339130-21151128)x3	AIFM3, ARVCF +187 more	Copy number gain	See cases	GPathogenic
Select item 160847	GRCh38/hg38 22q11.21(chr22:18339130-21454720)x3	AIFM3, ARVCF +197 more	Copy number gain	See cases	GPathogenic
Select item 160846	GRCh38/hg38 22q11.21(chr22:18339130-21086225)x1	AIFM3, ARVCF +187 more	Copy number loss	See cases	GPathogenic
Select item 160845	GRCh38/hg38 22q11.21(chr22:18339130-21151128)x1	AIFM3, ARVCF +187 more	Copy number loss	See cases	GPathogenic
Select item 160782	GRCh38/hg38 22q11.21(chr22:18339130-21207225)x3	AIFM3, ARVCF +191 more	Copy number gain	See cases	GPathogenic
Select item 155375	GRCh38/hg38 22q11.21(chr22:18339130-21111373)x1	LOC130066966, LOC130066967 +187 more	Copy number loss	See cases	GPathogenic
Select item 155324	GRCh38/hg38 22q11.21(chr22:18339130-21111370)x3	LOC130066990, LOC130066991 +187 more	Copy number gain	See cases	GPathogenic
Select item 155295	GRCh38/hg38 22q11.21(chr22:18339130-21111373)x1	AIFM3, ARVCF +187 more	Copy number loss	See cases	GPathogenic
Select item 155226	GRCh38/hg38 22q11.21(chr22:18339130-21111370)x1	FAM246C, FAM247B +187 more	Copy number loss	See cases	GPathogenic
Select item 155167	GRCh38/hg38 22q11.21(chr22:18339130-21111370)x1	AIFM3, ARVCF +187 more	Copy number loss	See cases	GPathogenic
Select item 155162	GRCh38/hg38 22q11.21(chr22:18339130-21111370)x3	AIFM3, ARVCF +187 more	Copy number gain	See cases	GPathogenic
Select item 155158	GRCh38/hg38 22q11.21(chr22:18339130-21111373)x1	AIFM3, ARVCF +187 more	Copy number loss	See cases	GPathogenic
Select item 155059	GRCh38/hg38 22q11.21(chr22:18339130-21111373)x1	AIFM3, ARVCF +187 more	Copy number loss	See cases	GPathogenic
Select item 154667	GRCh38/hg38 22q11.21(chr22:18339130-21307146)x1	AIFM3, ARVCF +193 more	Copy number loss	See cases	GPathogenic
Select item 154574	GRCh38/hg38 22q11.21(chr22:18339130-21447315)x3	AIFM3, ARVCF +197 more	Copy number gain	See cases	GPathogenic
Select item 154479	GRCh38/hg38 22q11.21(chr22:18339130-20343532)x1	ARVCF, C22orf39 +121 more	Copy number loss	See cases	GPathogenic
Select item 153820	GRCh38/hg38 22q11.21(chr22:18339130-21111370)x1	AIFM3, ARVCF +187 more	Copy number loss	See cases	GPathogenic
Select item 153666	GRCh38/hg38 22q11.21(chr22:18339130-20686726)x1	ARVCF, C22orf39 +149 more	Copy number loss	See cases	GPathogenic
Select item 153361	GRCh38/hg38 22q11.21(chr22:18339130-20980781)x1	AIFM3, ARVCF +172 more	Copy number loss	See cases	GUncertain significance
Select item 153245	GRCh38/hg38 22q11.21(chr22:18339130-21111370)x1	AIFM3, ARVCF +187 more	Copy number loss	See cases	GPathogenic
Select item 153208	GRCh38/hg38 22q11.21(chr22:18339130-21450597)x1	AIFM3, ARVCF +197 more	Copy number loss	See cases	GPathogenic
Select item 152705	GRCh38/hg38 22q11.21-11.23(chr22:18339130-23480799)x1	AIFM3, ARVCF +380 more	Copy number loss	See cases	GPathogenic
Select item 152266	GRCh38/hg38 22q11.21(chr22:18339130-21109830)x1	AIFM3, ARVCF +187 more	Copy number loss	See cases	GPathogenic
Select item 152138	GRCh38/hg38 22q11.21(chr22:18339130-21101210)x1	DGCR11, DGCR2 +187 more	Copy number loss	See cases	GPathogenic
Select item 151229	GRCh38/hg38 22q11.21(chr22:18339130-21111373)x3	AIFM3, ARVCF +187 more	Copy number gain	See cases	GPathogenic
Select item 150093	GRCh38/hg38 22q11.21(chr22:18339130-21151156)x3	CLTCL1, FAM230E +187 more	Copy number gain	See cases	GPathogenic
Select item 149307	GRCh38/hg38 22q11.21(chr22:18339130-21109830)x1	AIFM3, ARVCF +187 more	Copy number loss	See cases	GPathogenic
Select item 149129	GRCh38/hg38 22q11.21(chr22:18339130-21454720)x3	AIFM3, ARVCF +197 more	Copy number gain	See cases	GPathogenic
Select item 149111	GRCh38/hg38 22q11.21(chr22:18339130-21107522)x1	AIFM3, ARVCF +187 more	Copy number loss	See cases	GPathogenic
Select item 148898	GRCh38/hg38 22q11.21(chr22:18339130-21109830)x1	AIFM3, ARVCF +187 more	Copy number loss	See cases	GPathogenic
Select item 147645	GRCh38/hg38 22q11.21(chr22:18339130-21028664)x1	AIFM3, ARVCF +183 more	Copy number loss	See cases	GPathogenic
Select item 147591	GRCh38/hg38 22q11.21(chr22:18339130-21441926)x1	AIFM3, ARVCF +197 more	Copy number loss	See cases	GPathogenic
Select item 147498	GRCh38/hg38 22q11.21(chr22:18339130-21086225)x1	TBX1, THAP7 +187 more	Copy number loss	See cases	GPathogenic
Select item 147320	GRCh38/hg38 22q11.21(chr22:18339130-21151128)x1	AIFM3, ARVCF +187 more	Copy number loss	See cases	GUncertain significance
Select item 146640	GRCh38/hg38 22q11.21(chr22:18339130-21003834)x3	AIFM3, ARVCF +181 more	Copy number gain	See cases	GPathogenic
Select item 146195	GRCh38/hg38 22q11.21(chr22:18339130-20354644)x3	ARVCF, C22orf39 +122 more	Copy number gain	See cases	GPathogenic
Select item 146133	GRCh38/hg38 22q11.21(chr22:18339130-21207225)x3	AIFM3, ARVCF +191 more	Copy number gain	See cases	GPathogenic
Select item 145118	GRCh38/hg38 22q11.21(chr22:18339130-21107463)x1	AIFM3, ARVCF +187 more	Copy number loss	See cases	GPathogenic
Select item 145117	GRCh38/hg38 22q11.21(chr22:18339130-21107463)x3	AIFM3, ARVCF +187 more	Copy number gain	See cases	GPathogenic
Select item 144617	GRCh38/hg38 22q11.21(chr22:18339130-21086226)x1	AIFM3, ARVCF +187 more	Copy number loss	See cases	GPathogenic
Select item 144616	GRCh38/hg38 22q11.21(chr22:18339130-21086226)x3	LOC130067011, LOC130067012 +187 more	Copy number gain	See cases	GPathogenic
Select item 144516	GRCh38/hg38 22q11.21(chr22:18339130-20343532)x1	ARVCF, C22orf39 +121 more	Copy number loss	See cases	GPathogenic
Select item 144408	GRCh38/hg38 22q11.21(chr22:18339130-21151128)x1	LOC130067010, LOC130067011 +187 more	Copy number loss	See cases	GPathogenic
Select item 144407	GRCh38/hg38 22q11.21(chr22:18339130-21151128)x4	AIFM3, ARVCF +187 more	Copy number gain	See cases	GPathogenic

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