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.1049+1G>A	RB1	Pathogenic/Likely pathogenic	13	48941740	48941740	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA026360
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.2106+2T>A	RB1	Pathogenic	13	49033971	49033971	T	A	criteria provided, single submitter	-
Deletion	NC_000013.11:g.(?_48376908)_(48380094_?)del	RB1	Pathogenic	13	48951044	48954230	na	na	criteria provided, single submitter	-
Deletion	NC_000013.11:g.(?_48360007)_(48368614_?)del	RB1	Pathogenic	13	48934143	48942750	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	-
Insertion	NM_000321.3(RB1):c.1960_1960+1insC	RB1	Pathogenic	13	49030485	49030486	G	GC	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	-
Deletion	NC_000013.11:g.(?_48345070)_(48345209_?)del	RB1	Pathogenic	13	48919206	48919345	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	-