"Database of Curated Mutations (DoCM)"[submitter] AND "RB1"[gene] - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 126810	NM_000321.3(RB1):c.409G>T (p.Glu137Ter)	RB1 (E137*)	Single nucleotide variant (nonsense)	Retinoblastoma	GPathogenic
Select item 376329	NM_000321.3(RB1):c.596T>A (p.Leu199Ter)	RB1 (L199*)	Single nucleotide variant (nonsense)	Retinoblastoma	GPathogenic
Select item 126824	NM_000321.3(RB1):c.958C>T (p.Arg320Ter)	RB1 (R320*)	Single nucleotide variant (nonsense)	Retinoblastoma +2 more	GPathogenic
Select item 13076	NM_000321.3(RB1):c.1072C>T (p.Arg358Ter)	RB1 (R358*)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic
Select item 126837	NM_000321.3(RB1):c.1363C>T (p.Arg455Ter)	RB1 (R455*)	Single nucleotide variant (nonsense)	Hereditary cancer-predisposing syndrome +3 more	GPathogenic
Select item 126840	NM_000321.3(RB1):c.1654C>T (p.Arg552Ter)	RB1 (R552*)	Single nucleotide variant (nonsense)	Hereditary cancer-predisposing syndrome +1 more	GPathogenic
Select item 13090	NM_000321.3(RB1):c.1666C>T (p.Arg556Ter)	RB1 (R556*)	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)	Hereditary cancer-predisposing syndrome +2 more	GPathogenic
Select item 376330	NM_000321.3(RB1):c.2117G>T (p.Cys706Phe)	RB1 (C706F)	Single nucleotide variant (missense variant)	Small cell lung carcinoma	GLikely pathogenic
Select item 13078	NM_000321.3(RB1):c.2242G>T (p.Glu748Ter)	RB1 (E748*)	Single nucleotide variant (nonsense)	Retinoblastoma	GPathogenic