IGLV11-55[gene] - ClinVar

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Items: 43

	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 150466	GRCh38/hg38 22q11.21-11.22(chr22:18178932-22562620)x3	LOC130066994, LOC130066995 +287 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 152705	GRCh38/hg38 22q11.21-11.23(chr22:18339130-23480799)x1	AIFM3, ARVCF +378 more	Copy number loss	See cases	GPathogenic
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 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 59326	GRCh38/hg38 22q11.21-11.23(chr22:21386914-23305976)x3	BCR, CCDC116 +177 more	Copy number gain	See cases	GPathogenic
Select item 59253	GRCh38/hg38 22q11.21-11.23(chr22:21443815-23397298)x1	BCR, CCDC116 +180 more	Copy number loss	See cases	GPathogenic
Select item 59252	GRCh38/hg38 22q11.21-11.23(chr22:21443815-24235645)x1	BCR, C22orf15 +223 more	Copy number loss	See cases	GPathogenic
Select item 147610	GRCh38/hg38 22q11.21-11.22(chr22:21444416-22574173)x1	CCDC116, HIC2 +90 more	Copy number loss	See cases	GPathogenic
Select item 153062	GRCh38/hg38 22q11.21-11.22(chr22:21447344-22655838)x1	CCDC116, GGTLC2 +94 more	Copy number loss	See cases	GPathogenic
Select item 146777	GRCh38/hg38 22q11.21-11.22(chr22:21454649-22562620)x1	CCDC116, IGL +89 more	Copy number loss	See cases	GPathogenic
Select item 146776	GRCh38/hg38 22q11.21-11.22(chr22:21454649-22562620)x3	CCDC116, IGL +89 more	Copy number gain	See cases	GPathogenic
Select item 155200	GRCh38/hg38 22q11.21-11.22(chr22:21454661-22617194)x1	CCDC116, IGL +92 more	Copy number loss	See cases	GPathogenic
Select item 148699	GRCh38/hg38 22q11.21-11.23(chr22:21454661-23312035)x1	LOC129929044, LOC129929045 +176 more	Copy number loss	See cases	GPathogenic
Select item 148615	GRCh38/hg38 22q11.21-11.23(chr22:21454661-24247140)x1	BCR, C22orf15 +223 more	Copy number loss	See cases	GPathogenic
Select item 146442	GRCh38/hg38 22q11.21-11.23(chr22:21454661-23414686)x1	BCR, CCDC116 +179 more	Copy number loss	See cases	GPathogenic
Select item 59327	GRCh38/hg38 22q11.21-11.23(chr22:21454661-23414686)x3	BCR, CCDC116 +179 more	Copy number gain	See cases	GPathogenic
Select item 32689	GRCh38/hg38 22q11.21-11.22(chr22:21454661-22562663)x1	CCDC116, IGL +89 more	Copy number loss	See cases	GPathogenic/Likely pathogenic
Select item 59264	GRCh38/hg38 22q11.21-11.23(chr22:21457690-24220231)x1	BCR, C22orf15 +222 more	Copy number loss	See cases	GPathogenic
Select item 59267	GRCh38/hg38 22q11.21-11.23(chr22:21562911-24307688)x1	BCR, C22orf15 +227 more	Copy number loss	See cases	GPathogenic
Select item 151375	GRCh38/hg38 22q11.21-11.22(chr22:21583391-22647760)x3	CCDC116, GGTLC2 +86 more	Copy number gain	See cases	GPathogenic
Select item 57444	GRCh38/hg38 22q11.21-11.22(chr22:21603122-22562663)x1	CCDC116, IGL +80 more	Copy number loss	See cases	GPathogenic
Select item 59328	GRCh38/hg38 22q11.21-11.22(chr22:21623411-22651271)x3	CCDC116, GGTLC2 +84 more	Copy number gain	See cases	GPathogenic
Select item 59283	GRCh38/hg38 22q11.21-11.23(chr22:21623411-23315617)x1	BCR, CCDC116 +168 more	Copy number loss	See cases	GPathogenic
Select item 59282	GRCh38/hg38 22q11.21-11.22(chr22:21623411-22617259)x1	CCDC116, IGL +83 more	Copy number loss	See cases	GPathogenic
Select item 545270	NC_000022.11:g.(?_21956007)_(22224188_?)del	IGL, IGLV10-54 +20 more	Deletion	Schizophrenia	GLikely pathogenic
Select item 545271	NC_000022.11:g.(?_21959229)_(22218520_?)del	IGL, IGLV10-54 +20 more	Deletion	Autism	GLikely pathogenic
Select item 147127	GRCh38/hg38 22q11.22(chr22:21968759-22220398)x3	IGL, IGLV10-54 +20 more	Copy number gain	See cases	GBenign
Select item 149636	GRCh38/hg38 22q11.22(chr22:21981865-22202315)x1	IGL, IGLV11-55 +18 more	Copy number loss	See cases	GLikely benign
Select item 149634	GRCh38/hg38 22q11.22(chr22:21981865-22202315)x3	IGL, IGLV11-55 +18 more	Copy number gain	See cases	GLikely benign
Select item 161024	GRCh38/hg38 22q11.22(chr22:21981871-22202339)x3	IGL, IGLV11-55 +18 more	Copy number gain	See cases	GBenign
Select item 146144	GRCh38/hg38 22q11.22(chr22:21981871-22202339)x1	IGL, IGLV11-55 +18 more	Copy number loss	See cases	GBenign
Select item 147186	GRCh38/hg38 22q11.22(chr22:21994545-22202310)x3	IGL, IGLV11-55 +16 more	Copy number gain	See cases	GBenign

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Items: 43