LOC125446219[gene] - ClinVar

	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 145336	GRCh38/hg38 22q11.1-13.33(chr22:16916743-50739785)x3	LOC130067403, LOC130067404 +2088 more	Copy number gain	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 149114	GRCh38/hg38 22q11.23-12.3(chr22:23279231-36247369)x3	LOC130067187, LOC130067188 +556 more	Copy number gain	See cases	GPathogenic
Select item 57002	GRCh38/hg38 22q12.1-12.3(chr22:26979579-33992220)x3	AP1B1, ASCC2 +307 more	Copy number gain	See cases	GPathogenic
Select item 3062346	GRCh38/hg38 22q12.2-12.3(chr22:31684443-31987722)	DEPDC5, LINC02558 +14 more	Copy number loss	Epilepsy syndrome	GPathogenic
Select item 647951	NC_000022.11:g.(?_31754902)_(31906517_?)del	DEPDC5, LOC125446219 +2 more	Deletion	Epilepsy, familial focal, with variable foci 1	GPathogenic
Select item 3359223	Single allele	DEPDC5, LINC02558 +10 more	Deletion	Epilepsy, familial focal, with variable foci 1	GPathogenic, low penetrance
Select item 534828	NC_000022.10:g.(?_32253411)_(32302503_?)dup	DEPDC5, LOC125446219	Duplication	Familial focal epilepsy with variable foci	GUncertain significance

ClinVar