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.1960+5G>A	RB1	Likely pathogenic	13	49030490	49030490	G	A	criteria provided, single submitter	ClinGen:CA026412
single nucleotide variant	NM_000321.3(RB1):c.2164A>T (p.Lys722Ter)	RB1	Pathogenic	13	49037924	49037924	A	T	criteria provided, single submitter	ClinGen:CA026424
single nucleotide variant	NM_000321.3(RB1):c.2520+1G>A	RB1	Pathogenic	13	49047527	49047527	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA026443
single nucleotide variant	NM_000321.3(RB1):c.2663+2T>C	RB1	Pathogenic	13	49050981	49050981	T	C	criteria provided, single submitter	ClinGen:CA026445
Deletion	NM_000321.3(RB1):c.305_306del (p.Cys102fs)	RB1	Pathogenic	13	48916774	48916775	CTG	C	criteria provided, single submitter	ClinGen:CA026448
single nucleotide variant	NM_000321.3(RB1):c.409G>T (p.Glu137Ter)	RB1	Pathogenic	13	48919244	48919244	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA026454
single nucleotide variant	NM_000321.3(RB1):c.446C>G (p.Ser149Ter)	RB1	Pathogenic	13	48919281	48919281	C	G	criteria provided, single submitter	ClinGen:CA026458
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
single nucleotide variant	NM_000321.3(RB1):c.763C>T (p.Arg255Ter)	RB1	Pathogenic	13	48936995	48936995	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA026466
single nucleotide variant	NM_000321.3(RB1):c.958C>T (p.Arg320Ter)	RB1	Pathogenic	13	48941648	48941648	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA026470