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.103C>T (p.Gln35Ter)	RB1	Pathogenic	13	48878151	48878151	C	T	criteria provided, single submitter	ClinGen:CA026359
Duplication	NM_000321.3(RB1):c.92dup (p.Asp32fs)	RB1	Pathogenic	13	48878139	48878140	G	GA	criteria provided, single submitter	-
Deletion	NM_000321.3(RB1):c.83del (p.Pro28fs)	RB1	Pathogenic	13	48878127	48878127	GC	G	criteria provided, single submitter	-
Deletion	NM_000321.3(RB1):c.54_79del (p.Glu19fs)	RB1	Pathogenic	13	48878094	48878119	TGCCGCCGCGGAACCCCCGGCACCGCC	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA026461
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.37_65del (p.Ala13fs)	RB1	Pathogenic	13	48878084	48878112	CCGCCGCCGCTGCCGCCGCGGAACCCCCGG	C	criteria provided, single submitter	ClinGen:CA16614430
Duplication	NM_000321.3(RB1):c.54_73dup (p.Pro25fs)	RB1	Pathogenic	13	48878094	48878095	G	GCCGCCGCGGAACCCCCGGCA	criteria provided, single submitter	ClinGen:CA658658234
Duplication	NM_000321.3(RB1):c.54_76dup (p.Pro26fs)	RB1	Pathogenic/Likely pathogenic	13	48878093	48878094	T	TGCCGCCGCGGAACCCCCGGCACC	criteria provided, multiple submitters, no conflicts	ClinGen:CA645369601
Duplication	NM_000321.3(RB1):c.45_70dup (p.Pro24fs)	RB1	Pathogenic	13	48878088	48878089	G	GCCGCTGCCGCCGCGGAACCCCCGGCA	criteria provided, single submitter	-
Deletion	NM_000321.3(RB1):c.36del (p.Ala13fs)	RB1	Pathogenic	13	48878083	48878083	AC	A	criteria provided, single submitter	-