"GeneDx"[submitter] AND "RBL2"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59487	GRCh38/hg38 16q12.1-12.2(chr16:47250644-54121476)x1	ABCC11, ABCC12 +211 more	Copy number loss	See cases	GPathogenic
Select item 3152136	NM_005611.4(RBL2):c.142C>T (p.Arg48Trp)	LOC130059028, RBL2 (R48W)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3373117	NM_005611.4(RBL2):c.787G>C (p.Ala263Pro)	RBL2 (A189P +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3343675	NM_005611.4(RBL2):c.1631A>G (p.Tyr544Cys)	RBL2 (Y470C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3152146	NM_005611.4(RBL2):c.2785A>C (p.Ser929Arg)	RBL2 (S855R +3 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2504684	NM_005611.4(RBL2):c.3382C>T (p.Arg1128Cys)	RBL2 (R1054C +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3359477	NM_005611.4(RBL2):c.1179+1_1179+5del	RBL2	Deletion (splice donor variant)	not provided	GUncertain significance

ClinVar