"Department of Pediatrics, Memorial Sloan Kettering Cancer Center"[sub - ClinVar

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Items: 25

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 995907	NM_000321.3(RB1):c.-206_-189del	RB1, RB1-DT	Deletion	Retinoblastoma	GLikely pathogenic
Select item 995883	NM_000321.3(RB1):c.453del (p.Leu151_Leu152insTer)	RB1	Deletion (frameshift variant)	Retinoblastoma	GPathogenic
Select item 995884	NM_000321.3(RB1):c.719-1_719delinsAG	RB1	Indel (splice acceptor variant)	Retinoblastoma	GLikely pathogenic
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 995906	NM_000321.3(RB1):c.840dup (p.His281fs)	RB1 (H281fs)	Duplication (frameshift variant)	Retinoblastoma	GPathogenic
Select item 995889	NM_000321.3(RB1):c.939+1G>A	RB1	Single nucleotide variant (splice donor variant)	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 995890	NM_000321.3(RB1):c.1206C>T (p.Ser402=)	RB1	Single nucleotide variant (synonymous variant)	Retinoblastoma +1 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	GPathogenic
Select item 458120	NM_000321.3(RB1):c.1333-2A>G	RB1	Single nucleotide variant (splice acceptor variant)	Retinoblastoma	GPathogenic
Select item 995880	NM_000321.3(RB1):c.1333-1G>A	RB1	Single nucleotide variant (splice acceptor variant)	Retinoblastoma +1 more	GPathogenic
Select item 995905	NM_000321.3(RB1):c.1568T>A (p.Leu523Ter)	RB1 (L523*)	Single nucleotide variant (nonsense)	Retinoblastoma	GPathogenic
Select item 640295	NM_000321.3(RB1):c.1629_1630del (p.Glu545fs)	RB1 (E545fs)	Deletion (frameshift variant)	not provided +1 more	GPathogenic
Select item 126840	NM_000321.3(RB1):c.1654C>T (p.Arg552Ter)	RB1 (R552*)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic
Select item 995881	NM_000321.3(RB1):c.1754_1755dup (p.Leu586fs)	RB1 (L586fs)	Duplication (frameshift variant)	Retinoblastoma	GPathogenic
Select item 13087	NM_000321.3(RB1):c.1981C>T (p.Arg661Trp)	RB1	Single nucleotide variant (missense variant)	Retinoblastoma +5 more	GPathogenic
Select item 995882	NM_000321.3(RB1):c.2125_2135dup (p.Lys713fs)	RB1 (K713fs)	Duplication (frameshift variant)	Retinoblastoma	GPathogenic
Select item 995909	NM_000321.3(RB1):c.2237_2241del (p.Glu746fs)	RB1 (E746fs)	Deletion (frameshift variant)	Retinoblastoma	GPathogenic
Select item 995910	NM_000321.3(RB1):c.2293A>T (p.Lys765Ter)	RB1 (K765*)	Single nucleotide variant (nonsense)	Retinoblastoma	GPathogenic
Select item 995908	NM_000321.3(RB1):c.2308C>T (p.Gln770Ter)	RB1 (Q770*)	Single nucleotide variant (nonsense)	Retinoblastoma	GPathogenic
Select item 995886	NM_000321.3(RB1):c.2325+1G>T	RB1	Single nucleotide variant (splice donor variant)	Retinoblastoma	GPathogenic
Select item 821155	NM_000321.3(RB1):c.2363_2384dup (p.Leu797_Arg798insGlnValSerTerProLeu)	RB1	Duplication (nonsense +1 more)	Retinoblastoma +1 more	GPathogenic
Select item 995888	NM_000321.3(RB1):c.2429_2432dup (p.Ser811fs)	RB1 (S811fs)	Microsatellite (frameshift variant)	Retinoblastoma	GPathogenic
Select item 995885	NM_000321.3(RB1):c.2520+6T>C	RB1	Single nucleotide variant (intron variant)	Retinoblastoma	GLikely pathogenic
Select item 995887	NM_000321.3:c.2265_2343delinsAT	RB1	Indel	Retinoblastoma	GLikely pathogenic

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Items: 25