"Fulgent Genetics, Fulgent Genetics"[submitter] AND "RB1"[gene] - ClinVar - NCBI

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 458158	NM_000321.3(RB1):c.269G>T (p.Gly90Val)	RB1 (G90V)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +4 more	GConflicting classifications of pathogenicity
Select item 458162	NM_000321.3(RB1):c.276T>G (p.Ile92Met)	RB1 (I92M)	Single nucleotide variant (missense variant)	Retinoblastoma +3 more	GUncertain significance
Select item 854366	NM_000321.3(RB1):c.352A>T (p.Thr118Ser)	RB1 (T118S)	Single nucleotide variant (missense variant)	Small cell lung carcinoma +4 more	GUncertain significance
Select item 825236	NM_000321.3(RB1):c.485T>A (p.Phe162Tyr)	RB1 (F162Y)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +4 more	GBenign/Likely benign
Select item 575378	NM_000321.3(RB1):c.752G>A (p.Arg251Gln)	RB1 (R251Q)	Single nucleotide variant (missense variant)	Retinoblastoma +4 more	GConflicting classifications of pathogenicity
Select item 458185	NM_000321.3(RB1):c.850A>G (p.Asn284Asp)	RB1 (N284D)	Single nucleotide variant (missense variant)	Retinoblastoma +4 more	GConflicting classifications of pathogenicity
Select item 458119	NM_000321.3(RB1):c.1174G>A (p.Ala392Thr)	RB1 (A392T)	Single nucleotide variant (missense variant)	Retinoblastoma +4 more	GUncertain significance
Select item 126832	NM_000321.3(RB1):c.1215+1G>A	RB1	Single nucleotide variant (splice donor variant)	Retinoblastoma +4 more	GConflicting classifications of pathogenicity
Select item 13071	NM_000321.3(RB1):c.1333C>T (p.Arg445Ter)	RB1 (R445*)	Single nucleotide variant (nonsense)	Malignant tumor of urinary bladder +5 more	GPathogenic
Select item 664716	NM_000321.3(RB1):c.1376C>T (p.Ser459Phe)	RB1 (S459F)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +4 more	GUncertain significance
Select item 13087	NM_000321.3(RB1):c.1981C>T (p.Arg661Trp)	RB1	Single nucleotide variant (missense variant)	Retinoblastoma +5 more	GPathogenic