網膜芽細胞腫 - MGenReviews

網膜芽細胞腫

腫瘍性疾患

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Type	Name	Gene Symbol	Clinical Significance	Chromosome	Start	Stop	Reference Allele	Alternate Allele	Review Status	Other IDs
Type	Name	Gene Symbol	Clinical Significance	Chromosome	(GRCh37)		Reference Allele	Alternate Allele	Review Status	Other IDs
Deletion	NM_000321.3(RB1):c.2525_2526del (p.Thr841_Ser842insTer)	RB1	Pathogenic	13	49050840	49050841	TTC	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000321.3(RB1):c.2548C>T (p.Gln850Ter)	RB1	Pathogenic	13	49050864	49050864	C	T	criteria provided, single submitter	ClinGen:CA10604891
single nucleotide variant	NM_000321.3(RB1):c.2663G>A (p.Ser888Asn)	RB1	Likely pathogenic	13	49050979	49050979	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA388157668
single nucleotide variant	NM_000321.3(RB1):c.2663+2T>C	RB1	Pathogenic	13	49050981	49050981	T	C	criteria provided, single submitter	ClinGen:CA026445