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
Deletion	NC_000013.11:g.(?_48303907)_(48480077_?)del	RB1	Pathogenic	13	48878043	49054213	na	na	criteria provided, single submitter	-
Deletion	NC_000013.11:g.(?_48303903)_(48307416_?)del	RB1	Pathogenic	13	48878039	48881552	na	na	criteria provided, single submitter	-
Deletion	NC_000013.11:g.(?_48303903)_(48480081_?)del	RB1	Pathogenic	13	48878039	49054217	na	na	criteria provided, single submitter	-
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