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.2370C>A (p.Tyr790Ter)	RB1	Pathogenic	13	49039385	49039385	C	A	criteria provided, single submitter	ClinGen:CA026439
single nucleotide variant	NM_000321.3(RB1):c.2339C>G (p.Ser780Ter)	RB1	Pathogenic	13	49039354	49039354	C	G	criteria provided, single submitter	-
single nucleotide variant	NM_000321.3(RB1):c.2325+1G>C	RB1	Pathogenic/Likely pathogenic	13	49039248	49039248	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA388167738
single nucleotide variant	NM_000321.3(RB1):c.2325+1G>A	RB1	Pathogenic	13	49039248	49039248	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA388167737
Deletion	NM_000321.3(RB1):c.2299_2302del (p.Asn767fs)	RB1	Pathogenic	13	49039220	49039223	CAAAT	C	criteria provided, single submitter	ClinGen:CA645369595
single nucleotide variant	NM_000321.3(RB1):c.2284C>T (p.Gln762Ter)	RB1	Pathogenic	13	49039206	49039206	C	T	criteria provided, single submitter	-
Insertion	NM_000321.3(RB1):c.2247_2248insAA (p.Asp750fs)	RB1	Pathogenic	13	49039169	49039170	T	TAA	criteria provided, single submitter	ClinGen:CA658798152
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.2211G>T (p.Glu737Asp)	RB1	Pathogenic	13	49037971	49037971	G	T	criteria provided, single submitter	ClinGen:CA388167239
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