ClinVar for Gene (Select 111258506) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 152995	GRCh38/hg38 2p25.1-11.2(chr2:7495123-87705899)x3	LOC126806252, LOC126806253 +2457 more	Copy number gain	See cases	GBenign
Select item 152020	GRCh38/hg38 2p14-13.3(chr2:64587095-69876311)x1	AAK1, ACTR2 +216 more	Copy number loss	See cases	GLikely pathogenic
Select item 151435	GRCh38/hg38 2p14(chr2:65377225-66768570)x3	LINC01798, LINC01873 +48 more	Copy number gain	See cases	GUncertain significance
Select item 149489	GRCh38/hg38 2p14(chr2:65855728-66532583)x3	HCNR606, HHC2:065944 +18 more	Copy number gain	See cases	GLikely benign
Select item 146814	GRCh38/hg38 2p16.1-11.2(chr2:58279519-83586962)x3	AAK1, ACTG2 +768 more	Copy number gain	See cases	GPathogenic
Select item 60180	GRCh38/hg38 2p15-14(chr2:63311999-67309291)x1	ACTR2, AFTPH +173 more	Copy number loss	See cases	GPathogenic
Select item 58872	GRCh38/hg38 2p14(chr2:66239485-67988719)x3	ETAA1, HCNR606 +40 more	Copy number gain	See cases	GUncertain significance

ClinVar