FAM230B[gene] - ClinVar

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Items: 56

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144164	GRCh38/hg38 22q11.1-13.33(chr22:16916608-50739836)x3	A4GALT, ACO2 +2088 more	Copy number gain	See cases	GPathogenic
Select item 59279	GRCh38/hg38 22q11.1-11.23(chr22:16916608-24358936)x3	LOC130067011, LOC130067012 +535 more	Copy number gain	See cases	GPathogenic
Select item 145336	GRCh38/hg38 22q11.1-13.33(chr22:16916743-50739785)x3	LOC126863153, LOC126863154 +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 545256	NC_000022.11:g.(?_18159879)_(21362822_?)del	AIFM3, ARVCF +195 more	Deletion	Schizophrenia	GPathogenic
Select item 545258	NC_000022.11:g.(?_18163926)_(21277123_?)del	PI4KA, PRODH +192 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	AIFM3, ARVCF +287 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 154716	GRCh38/hg38 22q11.21(chr22:18178957-21454720)x1	LOC114004361, LOC116309126 +196 more	Copy number loss	See cases	GPathogenic
Select item 147308	GRCh38/hg38 22q11.21(chr22:18178957-21307146)x3	LOC130066994, LOC130066995 +192 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 32638	GRCh38/hg38 22q11.21(chr22:18178957-21207225)x1	AIFM3, ARVCF +190 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 161048	GRCh38/hg38 22q11.21(chr22:18339130-21454720)x1	AIFM3, ARVCF +195 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 160847	GRCh38/hg38 22q11.21(chr22:18339130-21454720)x3	AIFM3, ARVCF +195 more	Copy number gain	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 154667	GRCh38/hg38 22q11.21(chr22:18339130-21307146)x1	AIFM3, ARVCF +191 more	Copy number loss	See cases	GPathogenic
Select item 154574	GRCh38/hg38 22q11.21(chr22:18339130-21447315)x3	AIFM3, ARVCF +195 more	Copy number gain	See cases	GPathogenic
Select item 153208	GRCh38/hg38 22q11.21(chr22:18339130-21450597)x1	LOC125424387, LOC125424388 +195 more	Copy number loss	See cases	GPathogenic
Select item 152705	GRCh38/hg38 22q11.21-11.23(chr22:18339130-23480799)x1	FAM246B, FAM246C +378 more	Copy number loss	See cases	GPathogenic
Select item 149129	GRCh38/hg38 22q11.21(chr22:18339130-21454720)x3	AIFM3, ARVCF +195 more	Copy number gain	See cases	GPathogenic
Select item 147591	GRCh38/hg38 22q11.21(chr22:18339130-21441926)x1	LOC130066964, LOC130066965 +195 more	Copy number loss	See cases	GPathogenic
Select item 146133	GRCh38/hg38 22q11.21(chr22:18339130-21207225)x3	AIFM3, ARVCF +189 more	Copy number gain	See cases	GPathogenic
Select item 144399	GRCh38/hg38 22q11.21(chr22:18339130-21207225)x1	AIFM3, ARVCF +189 more	Copy number loss	See cases	GPathogenic
Select item 144398	GRCh38/hg38 22q11.21(chr22:18339130-21207225)x3	AIFM3, ARVCF +189 more	Copy number gain	See cases	GPathogenic
Select item 58197	GRCh38/hg38 22q11.21(chr22:18339130-21207225)x3	AIFM3, ARVCF +189 more	Copy number gain	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 58191	GRCh38/hg38 22q11.21(chr22:18339130-21207225)x3	LOC112694767, LOC114004361 +189 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 33260	GRCh38/hg38 22q11.21(chr22:18339130-21207225)x1	AIFM3, ARVCF +189 more	Copy number loss	See cases	GPathogenic
Select item 32998	GRCh38/hg38 22q11.21(chr22:18339130-21207225)x3	AIFM3, ARVCF +189 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 57229	GRCh38/hg38 22q11.21(chr22:18389245-21207225)x1	AIFM3, ARVCF +188 more	Copy number loss	See cases	GPathogenic
Select item 545259	NC_000022.11:g.(?_18802709)_(21343709_?)del	AIFM3, ARVCF +181 more	Deletion	Schizophrenia	GPathogenic
Select item 545261	NC_000022.11:g.(?_18846939)_(21221413_?)del	LOC130067012, LOC130067013 +180 more	Deletion	Schizophrenia	GPathogenic
Select item 545265	Single allele	AIFM3, ARVCF +179 more	Duplication	Autism	GPathogenic
Select item 545266	Single allele	AIFM3, ARVCF +166 more	Duplication	Autism	GPathogenic
Select item 545268	NC_000022.11:g.(?_20346735)_(21277123_?)del	LOC129391267, LOC129391268 +70 more	Deletion	Schizophrenia	GLikely pathogenic
Select item 2499638	GRCh38/hg38 22q11.21(chr22:20354589-21405291)	LINC01637, LINC01651 +72 more	Copy number loss	22q11.2 central deletion syndrome	GUncertain significance
Select item 147340	GRCh38/hg38 22q11.21(chr22:20354600-21207225)x3	AIFM3, CRKL +67 more	Copy number gain	See cases	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	IGL, IGLV4-69 +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 34991	GRCh38/hg38 22q11.21(chr22:20726972-21207225)x3	AIFM3, CRKL +38 more	Copy number gain	See cases	GUncertain significance
Select item 148861	GRCh38/hg38 22q11.21-12.3(chr22:20907226-37187347)x3	LOC130067137, LOC130067138 +823 more	Copy number gain	See cases	GPathogenic
Select item 154610	GRCh38/hg38 22q11.21-11.22(chr22:21151069-22489199)x3	LOC129391268, LOC129391269 +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

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Items: 56