ClinVar for Gene (Select 100506675) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154432	GRCh38/hg38 11p15.1-13(chr11:20079474-34463996)x1	ABTB2, ANO3 +283 more	Copy number loss	See cases	GPathogenic
Select item 153496	GRCh38/hg38 11p13(chr11:31720362-32325516)x3	ELP4, LINC03031 +22 more	Copy number gain	See cases	GUncertain significance
Select item 151275	GRCh38/hg38 11p13(chr11:31600532-32122801)x3	ELP4, LINC03031 +23 more	Copy number gain	See cases	GPathogenic
Select item 145969	GRCh38/hg38 11p14.2-13(chr11:26368962-35252976)x1	LOC129390275, LOC129390276 +255 more	Copy number loss	See cases	GPathogenic
Select item 58858	GRCh38/hg38 11p14.3-12(chr11:22550115-38199159)x1	PAX6_HS3, PAX6_HS8 +334 more	Copy number loss	See cases	GPathogenic
Select item 57032	GRCh38/hg38 11p13(chr11:31634904-32088303)x3	ELP4, LINC03031 +19 more	Copy number gain	See cases	GUncertain significance
Select item 57005	GRCh38/hg38 11p13(chr11:31780836-32088303)x3	ELP4, LINC03031 +14 more	Copy number gain	See cases	GUncertain significance

ClinVar