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.2490-1398A>G	RB1	Pathogenic	13	49046098	49046098	A	G	criteria provided, single submitter	ClinGen:CA026441,OMIM:614041.0028
single nucleotide variant	NM_000321.3(RB1):c.1818T>A (p.Tyr606Ter)	RB1	Pathogenic	13	49030343	49030343	T	A	criteria provided, single submitter	ClinGen:CA026402,OMIM:614041.0026
single nucleotide variant	NM_000321.3(RB1):c.607+1G>T	RB1	Pathogenic	13	48923160	48923160	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA026463,OMIM:614041.0025
single nucleotide variant	NM_000321.3(RB1):c.2134T>C (p.Cys712Arg)	RB1	Pathogenic/Likely pathogenic	13	49037894	49037894	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA026423,UniProtKB:P06400#VAR_005587,OMIM:614041.0024
single nucleotide variant	NM_000321.3(RB1):c.1666C>T (p.Arg556Ter)	RB1	Pathogenic	13	48955550	48955550	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA026386,OMIM:614041.0022
single nucleotide variant	NM_000321.3(RB1):c.2211G>A (p.Glu737=)	RB1	Pathogenic	13	49037971	49037971	G	A	criteria provided, single submitter	ClinGen:CA026429,OMIM:614041.0021
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