LOC126806227[gene] - 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 154940	GRCh38/hg38 2p16.1-15(chr2:58031916-63611810)x1	B3GNT2, BCL11A +177 more	Copy number loss	See cases	GPathogenic
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 60148	GRCh38/hg38 2p16.1-14(chr2:58873039-64190332)x1	B3GNT2, BCL11A +187 more	Copy number loss	See cases	GPathogenic
Select item 149946	GRCh38/hg38 2p15(chr2:62006650-62779065)x3	B3GNT2, COMMD1 +43 more	Copy number gain	See cases	GLikely benign
Select item 152565	GRCh38/hg38 2p15(chr2:62031155-62779065)x3	B3GNT2, COMMD1 +42 more	Copy number gain	See cases	GUncertain significance

ClinVar