C0035335[trait identifier] AND "Unidad de Genómica Garrahan, Hospital - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 978455	NM_000321.3(RB1):c.473T>A (p.Leu158Ter)	RB1 (L158*)	Single nucleotide variant (nonsense)	Retinoblastoma	GPathogenic
Select item 237678	NM_000321.3(RB1):c.929G>A (p.Gly310Glu)	RB1 (G310E)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GConflicting classifications of pathogenicity
Select item 126832	NM_000321.3(RB1):c.1215+1G>A	RB1	Single nucleotide variant (splice donor variant)	Malignant tumor of urinary bladder +4 more	GConflicting classifications of pathogenicity
Select item 978457	NM_000321.3(RB1):c.1215+2T>C	RB1	Single nucleotide variant (splice donor variant)	Retinoblastoma	GPathogenic
Select item 978456	NM_000321.3(RB1):c.1633G>T (p.Glu545Ter)	RB1 (E545*)	Single nucleotide variant (nonsense)	Retinoblastoma +1 more	GPathogenic
Select item 126785	NM_000321.3(RB1):c.1735C>T (p.Arg579Ter)	RB1 (R579*)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic
Select item 978458	NM_000321.3(RB1):c.1770del (p.Pro591fs)	RB1 (P591fs)	Deletion (frameshift variant)	Retinoblastoma	GPathogenic
Select item 978459	NM_000321.3(RB1):c.1961T>A (p.Val654Glu)	RB1 (V654E)	Single nucleotide variant (missense variant)	Retinoblastoma	GUncertain significance
Select item 978460	NM_000321.3(RB1):c.1964A>G (p.Tyr655Cys)	RB1 (Y655C)	Single nucleotide variant (missense variant)	Retinoblastoma	GUncertain significance

ClinVar