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.1981C>T (p.Arg661Trp)	RB1	Pathogenic	13	49033844	49033844	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA026417,UniProtKB:P06400#VAR_005582,OMIM:614041.0019
single nucleotide variant	NM_000321.2(RB1):c.-198G>A	RB1	Pathogenic	13	48877851	48877851	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA026385,OMIM:614041.0018
single nucleotide variant	NM_000321.3(RB1):c.2242G>T (p.Glu748Ter)	RB1	Pathogenic	13	49039164	49039164	G	T	criteria provided, single submitter	ClinGen:CA026433,OMIM:614041.0010
single nucleotide variant	NM_000321.3(RB1):c.2107-2A>G	RB1	Pathogenic	13	49037865	49037865	A	G	criteria provided, single submitter	OMIM:614041.0009
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.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
single nucleotide variant	NM_000321.3(RB1):c.1696-2A>G	RB1	Likely pathogenic	13	49027127	49027127	A	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.652T>G (p.Leu218Val)	RB1	Likely pathogenic	13	48934197	48934197	T	G	criteria provided, single submitter	-