C0265223[trait identifier] AND "Department of Molecular and Human Gene - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 915973	GRCh37/hg19 8q22.2(chr8:100232749-100493790)	VPS13B	Copy number loss	Cohen syndrome	GPathogenic
Select item 915972	GRCh37/hg19 8q22.2(chr8:100274176-100477297)	VPS13B	Copy number loss	Cohen syndrome	GPathogenic
Select item 915971	GRCh37/hg19 8q22.2(chr8:100587642-100712137)	VPS13B	Copy number loss	Cohen syndrome	GPathogenic
Select item 915970	GRCh37/hg19 8q22.2(chr8:100067471-100156392)	VPS13B	Copy number gain	Cohen syndrome	GPathogenic
Select item 915969	GRCh37/hg19 8q22.2(chr8:100479441-100545102)	VPS13B	Copy number loss	Cohen syndrome	GPathogenic
Select item 915968	GRCh37/hg19 8q22.2(chr8:100168626-100298366)	VPS13B	Copy number loss	Cohen syndrome	GPathogenic
Select item 915967	GRCh37/hg19 8q22.2(chr8:100108619-100160324)	VPS13B	Copy number loss	Cohen syndrome	GPathogenic

ClinVar