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.1389+5G>A	RB1	Pathogenic	13	48953791	48953791	G	A	criteria provided, single submitter	ClinGen:CA645369547
single nucleotide variant	NM_000321.3(RB1):c.1421+1G>C	RB1	Pathogenic/Likely pathogenic	13	48954221	48954221	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA388162744
Deletion	NM_000321.3(RB1):c.1447del (p.His483fs)	RB1	Pathogenic	13	48954326	48954326	TC	T	criteria provided, single submitter	ClinGen:CA645369548
single nucleotide variant	NM_000321.3(RB1):c.1498+1G>A	RB1	Likely pathogenic	13	48954378	48954378	G	A	criteria provided, single submitter	ClinGen:CA388162927
Deletion	NM_000321.3(RB1):c.1502_1514del (p.Ser501fs)	RB1	Pathogenic	13	48955383	48955395	GGAAGTACATCTCA	G	criteria provided, single submitter	ClinGen:CA645369594
Deletion	NM_000321.3(RB1):c.1575del (p.Phe526fs)	RB1	Pathogenic	13	48955458	48955458	GC	G	criteria provided, single submitter	ClinGen:CA483559467
single nucleotide variant	NM_000321.3(RB1):c.1695+3A>C	RB1	Pathogenic	13	48955582	48955582	A	C	criteria provided, single submitter	ClinGen:CA645369593
Deletion	NM_000321.3(RB1):c.1706del (p.Leu569fs)	RB1	Pathogenic	13	49027137	49027137	CT	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA645369523
Deletion	NM_000321.3(RB1):c.1811del (p.Asp604fs)	RB1	Pathogenic	13	49027244	49027244	GA	G	criteria provided, single submitter	ClinGen:CA645369524
single nucleotide variant	NM_000321.3(RB1):c.1814+2T>G	RB1	Pathogenic	13	49027249	49027249	T	G	criteria provided, single submitter	ClinGen:CA388165679