"Centre for Mendelian Genomics, University Medical Centre Ljubljana"[s - ClinVar - NCBI

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Items: 5

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 523357	NM_000321.3(RB1):c.597_601dup (p.Ala201delinsAspTer)	RB1	Duplication (nonsense)	Retinoblastoma	GPathogenic
Select item 13093	NM_000321.3(RB1):c.607+1G>T	RB1	Single nucleotide variant (splice donor variant)	not provided +2 more	GPathogenic
Select item 930577	NM_000321.3(RB1):c.719-2A>T	RB1	Single nucleotide variant (splice acceptor variant)	Retinoblastoma	GLikely pathogenic
Select item 930927	NM_000321.3(RB1):c.1961-1G>T	RB1	Single nucleotide variant (splice acceptor variant)	Retinoblastoma	GPathogenic
Select item 930470	NM_000321.3(RB1):c.2246_2247del (p.Glu748_Tyr749insTer)	RB1	Deletion (nonsense)	Retinoblastoma	GPathogenic

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