"GeneDx"[submitter] AND "PDE6H"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146005	GRCh38/hg38 12p13.2-12.3(chr12:12363649-15280588)x1	APOLD1, ARHGDIB +137 more	Copy number loss	See cases	GPathogenic
Select item 58986	GRCh38/hg38 12p13.2-12.3(chr12:12388842-15540422)x1	APOLD1, ARHGDIB +140 more	Copy number loss	See cases	GPathogenic
Select item 450247	NM_006205.3(PDE6H):c.247A>C (p.Ile83Leu)	PDE6H (I83L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 253713	GRCh37/hg19 12p12.3(chr12:15034827-15677320)x1	RERG, MGP +4 more	Copy number loss	See cases	GUncertain significance
Select item 253582	GRCh37/hg19 12p13.33-11.1(chr12:148034-34178799)x4	ACSM4, CCND2 +278 more	Copy number gain	See cases	GPathogenic
Select item 253493	GRCh37/hg19 12p13.33-11.1(chr12:89061-34178799)x3	A2M, A2ML1 +278 more	Copy number gain	See cases	GPathogenic

ClinVar