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.1072C>T (p.Arg358Ter)	RB1	Pathogenic	13	48942685	48942685	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA026363,OMIM:614041.0008
single nucleotide variant	NM_000321.3(RB1):c.1049+1G>T	RB1	Likely pathogenic	13	48941740	48941740	G	T	criteria provided, single submitter	ClinGen:CA026361,OMIM:614041.0007
single nucleotide variant	NM_000321.3(RB1):c.1333C>T (p.Arg445Ter)	RB1	Pathogenic	13	48953730	48953730	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA026371,OMIM:614041.0003
Deletion	NM_000321.3(RB1):c.2520+1del	RB1	Pathogenic	13	49047524	49047524	CG	C	criteria provided, single submitter	OMIM:614041.0001,ClinGen:CA256698