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
single nucleotide variant	NM_000321.3(RB1):c.2520+1G>T	RB1	Pathogenic	13	49047527	49047527	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA388168168
single nucleotide variant	NM_000321.3(RB1):c.2520+1G>A	RB1	Pathogenic	13	49047527	49047527	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA026443
Deletion	NM_000321.3(RB1):c.2520+1del	RB1	Pathogenic	13	49047524	49047524	CG	C	criteria provided, single submitter	OMIM:614041.0001,ClinGen:CA256698
single nucleotide variant	NM_000321.3(RB1):c.2513C>G (p.Ser838Ter)	RB1	Pathogenic	13	49047519	49047519	C	G	criteria provided, single submitter	-
single nucleotide variant	NM_000321.3(RB1):c.2513C>A (p.Ser838Ter)	RB1	Pathogenic	13	49047519	49047519	C	A	criteria provided, single submitter	ClinGen:CA388168153
single nucleotide variant	NM_000321.3(RB1):c.2501C>A (p.Ser834Ter)	RB1	Pathogenic	13	49047507	49047507	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA388168125
Deletion	NM_000321.3(RB1):c.2490-1_2490del	RB1	Pathogenic	13	49047494	49047495	CAG	C	criteria provided, single submitter	-
single nucleotide variant	NM_000321.3(RB1):c.2490-1398A>G	RB1	Pathogenic	13	49046098	49046098	A	G	criteria provided, single submitter	ClinGen:CA026441,OMIM:614041.0028
Deletion	NM_000321.3(RB1):c.2488_2489+7del	RB1	Pathogenic	13	49039503	49039511	AAGGTGTGTG	A	criteria provided, single submitter	ClinGen:CA483740435
Deletion	NC_000013.11:g.(?_48464992)_(48465374_?)del	RB1	Pathogenic	13	49039128	49039510	na	na	criteria provided, single submitter	-