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
Duplication	NM_000321.3(RB1):c.465_468dup (p.Val157Ter)	RB1	Pathogenic	13	48919299	48919300	A	ATGAT	criteria provided, single submitter	-
single nucleotide variant	NM_000321.3(RB1):c.652T>G (p.Leu218Val)	RB1	Likely pathogenic	13	48934197	48934197	T	G	criteria provided, single submitter	-
Deletion	NM_000321.3(RB1):c.36del (p.Ala13fs)	RB1	Pathogenic	13	48878083	48878083	AC	A	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.800del (p.Leu267fs)	RB1	Pathogenic	13	48937032	48937032	CT	C	criteria provided, single submitter	-
Deletion	NM_000321.3(RB1):c.951_954del (p.Ser318fs)	RB1	Pathogenic	13	48941638	48941641	ATCTT	A	criteria provided, single submitter	-
single nucleotide variant	NM_000321.3(RB1):c.1183C>T (p.Gln395Ter)	RB1	Pathogenic	13	48947596	48947596	C	T	criteria provided, single submitter	-
single nucleotide variant	NM_000321.3(RB1):c.1499-2A>C	RB1	Pathogenic	13	48955381	48955381	A	C	criteria provided, single submitter	-
single nucleotide variant	NM_000321.3(RB1):c.1789C>T (p.Gln597Ter)	RB1	Pathogenic	13	49027222	49027222	C	T	criteria provided, single submitter	-
Duplication	NM_000321.3(RB1):c.92dup (p.Asp32fs)	RB1	Pathogenic	13	48878139	48878140	G	GA	criteria provided, single submitter	-