"GeneDx"[submitter] AND "DRAM2"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 60007	GRCh38/hg38 1p21.2-13.2(chr1:101618097-111703028)x1	ELAPOR1, EPS8L3 +276 more	Copy number loss	See cases	GPathogenic
Select item 58084	GRCh38/hg38 1p13.3-12(chr1:109756630-118650204)x3	ADORA3, AHCYL1 +391 more	Copy number gain	See cases	GPathogenic
Select item 677169	NM_001349884.2(DRAM2):c.693+14A>G	DRAM2	Single nucleotide variant (intron variant)	Cone-rod dystrophy 21 +1 more	GBenign
Select item 677168	NM_001349884.2(DRAM2):c.601-9A>G	DRAM2	Single nucleotide variant (intron variant)	Cone-rod dystrophy 21 +1 more	GBenign
Select item 1288650	NM_001349884.2(DRAM2):c.517+98T>C	DRAM2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 423554	NM_001349884.2(DRAM2):c.419C>G (p.Thr140Ser)	DRAM2 (T140S +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance

ClinVar