"Laboratory for Molecular Medicine, Mass General Brigham Personalized - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 135115	NM_000321.3(RB1):c.59C>T (p.Pro20Leu)	RB1 (P20L)	Single nucleotide variant (missense variant)	Retinoblastoma +2 more	GConflicting classifications of pathogenicity
Select item 135125	NM_000321.3(RB1):c.920C>T (p.Thr307Ile)	RB1 (T307I)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign/Likely benign
Select item 237678	NM_000321.3(RB1):c.929G>A (p.Gly310Glu)	RB1 (G310E)	Single nucleotide variant (missense variant)	Retinoblastoma +3 more	GConflicting classifications of pathogenicity
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 126833	NM_000321.3(RB1):c.1216-1G>A	RB1	Single nucleotide variant (splice acceptor variant)	Retinoblastoma	GPathogenic/Likely pathogenic
Select item 92839	NM_000321.3(RB1):c.1399C>T (p.Arg467Ter)	RB1 (R467*)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic
Select item 237666	NM_000321.3(RB1):c.1961-12T>C	RB1	Single nucleotide variant (intron variant)	Retinoblastoma +3 more	GBenign/Likely benign
Select item 403366	NM_000321.3(RB1):c.2360G>A (p.Arg787Gln)	RB1 (R787Q)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 126805	NM_000321.3(RB1):c.2520+1G>A	RB1	Single nucleotide variant (splice donor variant)	Retinoblastoma +1 more	GPathogenic OOncogenic
Select item 92843	NM_000321.3(RB1):c.2664-10T>A	RB1	Single nucleotide variant (intron variant)	not provided +2 more	GBenign