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.396del (p.Phe132fs)	RB1	Pathogenic	13	48919229	48919229	CT	C	criteria provided, single submitter	ClinGen:CA10605366
single nucleotide variant	NM_000321.3(RB1):c.2489+1G>C	RB1	Pathogenic	13	49039505	49039505	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA10605763
single nucleotide variant	NM_000321.3(RB1):c.596T>A (p.Leu199Ter)	RB1	Pathogenic	13	48923148	48923148	T	A	criteria provided, single submitter	ClinGen:CA16602773
Deletion	NC_000013.11:g.(?_48342599)_(48345199_?)del	RB1	Pathogenic	13	48916735	48919335	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_000321.3(RB1):c.1696-12T>G	RB1	Pathogenic	13	49027117	49027117	T	G	criteria provided, single submitter	ClinGen:CA16614016
single nucleotide variant	NM_000321.3(RB1):c.2029G>T (p.Glu677Ter)	RB1	Pathogenic	13	49033892	49033892	G	T	criteria provided, single submitter	ClinGen:CA16614022
Deletion	NM_000321.3(RB1):c.2194_2197del (p.Pro732fs)	RB1	Pathogenic	13	49037954	49037957	TCCTC	T	criteria provided, single submitter	ClinGen:CA16614023
single nucleotide variant	NM_000321.3(RB1):c.1328C>A (p.Ser443Ter)	RB1	Pathogenic	13	48951166	48951166	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16614041
Duplication	NM_000321.3(RB1):c.1673_1674dup (p.Glu559fs)	RB1	Pathogenic	13	48955556	48955557	A	ATG	criteria provided, single submitter	ClinGen:CA16614058
single nucleotide variant	NM_000321.3(RB1):c.1960G>C (p.Val654Leu)	RB1	Pathogenic	13	49030485	49030485	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA16614062