"ITMI"[submitter] AND "RB1"[gene] - ClinVar - NCBI

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Items: 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 193082	NM_000321.3(RB1):c.45_53del (p.Ala16_Ala18del)	RB1	Deletion (inframe_deletion)	Hereditary cancer-predisposing syndrome +4 more	GBenign
Select item 135116	NM_000321.3(RB1):c.43G>C (p.Ala15Pro)	RB1 (A15P)	Single nucleotide variant (missense variant)	not specified	Gnot provided
Select item 135115	NM_000321.3(RB1):c.59C>T (p.Pro20Leu)	RB1 (P20L)	Single nucleotide variant (missense variant)	RB1-related disorder +3 more	GConflicting classifications of pathogenicity
Select item 135123	NM_000321.3(RB1):c.173C>T (p.Thr58Ile)	RB1 (T58I)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GBenign
Select item 135125	NM_000321.3(RB1):c.920C>T (p.Thr307Ile)	RB1 (T307I)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign/Likely benign
Select item 135119	NM_000321.3(RB1):c.1573G>A (p.Ala525Thr)	RB1 (A525T)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 135118	NM_000321.3(RB1):c.1574C>G (p.Ala525Gly)	RB1 (A525G)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 135117	NM_000321.3(RB1):c.1677A>T (p.Glu559Asp)	RB1 (E559D)	Single nucleotide variant (missense variant)	not specified	Gnot provided
Select item 135120	NM_000321.3(RB1):c.1861C>A (p.Arg621Ser)	RB1 (R621S)	Single nucleotide variant (missense variant)	RB1-related disorder +3 more	GConflicting classifications of pathogenicity
Select item 135122	NM_000321.3(RB1):c.1862G>A (p.Arg621His)	RB1 (R621H)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 135121	NM_000321.3(RB1):c.1898C>T (p.Thr633Ile)	RB1 (T633I)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GBenign/Likely benign
Select item 135124	NM_000321.3(RB1):c.2260G>C (p.Val754Leu)	RB1 (V754L)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 79393	NM_000321.3(RB1):c.2318C>T (p.Ser773Phe)	RB1 (S773F)	Single nucleotide variant (missense variant)	Retinoblastoma	GUncertain significance