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.2206C>T (p.Gln736Ter)	RB1	Pathogenic	13	49037966	49037966	C	T	criteria provided, single submitter	-
single nucleotide variant	NM_000321.3(RB1):c.2284C>T (p.Gln762Ter)	RB1	Pathogenic	13	49039206	49039206	C	T	criteria provided, single submitter	-
single nucleotide variant	NM_000321.3(RB1):c.2339C>G (p.Ser780Ter)	RB1	Pathogenic	13	49039354	49039354	C	G	criteria provided, single submitter	-
Deletion	NM_000321.3(RB1):c.2405_2414del (p.Gly802fs)	RB1	Pathogenic	13	49039420	49039429	GGGAACATCTA	G	criteria provided, single submitter	-
Duplication	NM_000321.3(RB1):c.2473dup (p.Met825fs)	RB1	Pathogenic	13	49039483	49039484	C	CA	criteria provided, single submitter	-
Deletion	NC_000013.11:g.(?_48307270)_(48349033_?)del	RB1	Pathogenic	13	48881406	48923169	na	na	criteria provided, single submitter	-
Deletion	NM_000321.3(RB1):c.2490-1_2490del	RB1	Pathogenic	13	49047494	49047495	CAG	C	criteria provided, single submitter	-
Deletion	NC_000013.11:g.(?_48345070)_(48345209_?)del	RB1	Pathogenic	13	48919206	48919345	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_000321.3(RB1):c.1389+1G>C	RB1	Pathogenic	13	48953787	48953787	G	C	criteria provided, single submitter	-
Insertion	NM_000321.3(RB1):c.1960_1960+1insC	RB1	Pathogenic	13	49030485	49030486	G	GC	criteria provided, single submitter	-