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.1027del (p.Leu343fs)	RB1	Pathogenic	13	48941717	48941717	TC	T	criteria provided, single submitter	ClinGen:CA645369540
Indel	NM_000321.3(RB1):c.1072_1074delinsGG (p.Arg358fs)	RB1	Pathogenic	13	48942685	48942687	CGA	GG	criteria provided, single submitter	ClinGen:CA645369542
single nucleotide variant	NM_000321.3(RB1):c.1128-2A>G	RB1	Pathogenic	13	48947539	48947539	A	G	criteria provided, single submitter	ClinGen:CA388161421
single nucleotide variant	NM_000321.3(RB1):c.1147C>T (p.Gln383Ter)	RB1	Pathogenic	13	48947560	48947560	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA388161469
Deletion	NM_000321.3(RB1):c.1229del (p.Asn410fs)	RB1	Pathogenic	13	48951066	48951066	GA	G	criteria provided, single submitter	ClinGen:CA645369543
Deletion	NM_000321.3(RB1):c.1251_1252del (p.Arg418fs)	RB1	Pathogenic	13	48951087	48951088	GAA	G	criteria provided, single submitter	ClinGen:CA645369544
Duplication	NM_000321.3(RB1):c.1321dup (p.Ile441fs)	RB1	Pathogenic	13	48951156	48951157	G	GA	criteria provided, single submitter	ClinGen:CA645369545
single nucleotide variant	NM_000321.3(RB1):c.1345G>A (p.Gly449Arg)	RB1	Pathogenic	13	48953742	48953742	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA388162556
single nucleotide variant	NM_000321.3(RB1):c.1372G>T (p.Glu458Ter)	RB1	Pathogenic	13	48953769	48953769	G	T	criteria provided, single submitter	ClinGen:CA388162615
single nucleotide variant	NM_000321.3(RB1):c.1389+4A>C	RB1	Likely pathogenic	13	48953790	48953790	A	C	criteria provided, single submitter	ClinGen:CA645369546