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
Duplication	NM_000321.3(RB1):c.1400_1403dup (p.Ser469fs)	RB1	Likely pathogenic	13	48954198	48954199	C	CGATT	criteria provided, single submitter	ClinGen:CA658683872
single nucleotide variant	NM_000321.3(RB1):c.1421G>T (p.Ser474Ile)	RB1	Likely pathogenic	13	48954220	48954220	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA388162742
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.539+1G>A	RB1	Likely pathogenic	13	48922000	48922000	G	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000321.3(RB1):c.652T>G (p.Leu218Val)	RB1	Likely pathogenic	13	48934197	48934197	T	G	criteria provided, single submitter	-
single nucleotide variant	NM_000321.3(RB1):c.1389+5G>C	RB1	Likely pathogenic	13	48953791	48953791	G	C	criteria provided, single submitter	-
single nucleotide variant	NM_000321.3(RB1):c.1696-2A>G	RB1	Likely pathogenic	13	49027127	49027127	A	G	criteria provided, single submitter	-
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.1333C>T (p.Arg445Ter)	RB1	Pathogenic	13	48953730	48953730	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA026371,OMIM:614041.0003
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