C0035335[trait identifier] AND "Genetics Program, Instituto Nacional d - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 428727	NM_000321.3(RB1):c.380+1G>A	RB1	Single nucleotide variant (splice donor variant)	Hereditary cancer-predisposing syndrome +1 more	GPathogenic
Select item 126820	NM_000321.3(RB1):c.763C>T (p.Arg255Ter)	RB1 (R255*)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic
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	GPathogenic
Select item 995859	NM_000321.3(RB1):c.1498+2T>G	RB1	Single nucleotide variant (splice donor variant)	Hereditary cancer-predisposing syndrome +1 more	GPathogenic/Likely pathogenic
Select item 995860	NM_000321.3(RB1):c.1901C>G (p.Ser634Ter)	RB1 (S634*)	Single nucleotide variant (nonsense)	Retinoblastoma	GPathogenic
Select item 937328	NM_000321.3(RB1):c.1960+1G>T	RB1	Single nucleotide variant (splice donor variant)	Retinoblastoma	GPathogenic
Select item 995861	NM_000321.3(RB1):c.2035_2038dup (p.Ile680fs)	RB1 (I680fs)	Duplication (frameshift variant)	Retinoblastoma	GPathogenic

ClinVar