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	NM_000321.3(RB1):c.371_372del (p.Ile124fs)	RB1	Pathogenic	13	48916840	48916841	CAT	C	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000321.3(RB1):c.1294A>T (p.Lys432Ter)	RB1	Pathogenic	13	48951132	48951132	A	T	criteria provided, single submitter	-
Deletion	NM_000321.3(RB1):c.2525_2526del (p.Thr841_Ser842insTer)	RB1	Pathogenic	13	49050840	49050841	TTC	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000321.3(RB1):c.1389+5G>C	RB1	Likely pathogenic	13	48953791	48953791	G	C	criteria provided, single submitter	-
single nucleotide variant	NM_000321.3(RB1):c.1696-2A>G	RB1	Likely pathogenic	13	49027127	49027127	A	G	criteria provided, single submitter	-
Deletion	NM_000321.3(RB1):c.45_76del (p.Ala17fs)	RB1	Pathogenic	13	48878081	48878112	CCACCGCCGCCGCTGCCGCCGCGGAACCCCCGG	C	criteria provided, single submitter	-
Deletion	NM_000321.3(RB1):c.272_276del (p.Tyr91fs)	RB1	Pathogenic	13	48916740	48916744	GTTATA	G	criteria provided, single submitter	-
Duplication	NM_000321.3(RB1):c.726dup (p.Val243fs)	RB1	Pathogenic	13	48936957	48936958	C	CT	criteria provided, single submitter	-
Deletion	NM_000321.3(RB1):c.849_856del (p.Cys283_Asp286delinsTer)	RB1	Pathogenic	13	48937080	48937087	TGTAATATA	T	criteria provided, single submitter	-
single nucleotide variant	NM_000321.3(RB1):c.859G>T (p.Glu287Ter)	RB1	Pathogenic	13	48937091	48937091	G	T	criteria provided, multiple submitters, no conflicts	-