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.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.2520+5G>A	RB1	Pathogenic/Likely pathogenic	13	49047531	49047531	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA645369529
single nucleotide variant	NM_000321.3(RB1):c.1390-2A>G	RB1	Pathogenic/Likely pathogenic	13	48954187	48954187	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA388162661
Deletion	NM_000321.3(RB1):c.1419del (p.Phe473fs)	RB1	Pathogenic/Likely pathogenic	13	48954215	48954215	AT	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA658683873