ClinVar for MedGen (Select 866608) - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1047880	GRCh37/hg19 7q21.12-22.1(chr7:87477185-100333327)	ATP5MF-PTCD1, AZGP1 +127 more	Copy number gain	Isolated Pierre-Robin syndrome +1 more	GPathogenic
Select item 1047872	GRCh37/hg19 1p32.3-32.2(chr1:51941877-56688514)	CYB5RL, EPS15 +49 more	Copy number loss	Abnormality of the kidney +1 more	GPathogenic
Select item 997058	GRCh37/hg19 2q24.3(chr2:165903672-166666206)	CSRNP3, GALNT3 +2 more	Copy number gain	Transverse facial cleft +3 more	GPathogenic

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