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.434del (p.Asp145fs)	RB1	Pathogenic	13	48919269	48919269	GA	G	criteria provided, single submitter	ClinGen:CA645369551
Deletion	NM_000321.3(RB1):c.443del (p.Met148fs)	RB1	Pathogenic	13	48919278	48919278	AT	A	criteria provided, single submitter	ClinGen:CA645369552
single nucleotide variant	NM_000321.3(RB1):c.496G>T (p.Glu166Ter)	RB1	Pathogenic	13	48919331	48919331	G	T	criteria provided, single submitter	ClinGen:CA388252855
single nucleotide variant	NM_000321.3(RB1):c.500+1G>T	RB1	Pathogenic	13	48919336	48919336	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA388252868
Deletion	NM_000321.3(RB1):c.539del (p.Ser179_Ser180insTer)	RB1	Pathogenic	13	48921999	48921999	TC	T	criteria provided, single submitter	ClinGen:CA645369530
Deletion	NM_000321.3(RB1):c.549del (p.Glu184fs)	RB1	Pathogenic	13	48923101	48923101	CT	C	criteria provided, single submitter	ClinGen:CA645369531
Duplication	NM_000321.3(RB1):c.607+2dup	RB1	Pathogenic/Likely pathogenic	13	48923160	48923161	G	GT	criteria provided, multiple submitters, no conflicts	ClinGen:CA645369532
single nucleotide variant	NM_000321.3(RB1):c.644C>A (p.Ser215Ter)	RB1	Pathogenic	13	48934189	48934189	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA388158248
Deletion	NM_000321.3(RB1):c.681del (p.Lys228fs)	RB1	Pathogenic	13	48934225	48934225	AT	A	criteria provided, single submitter	ClinGen:CA645369533
Deletion	NM_000321.3(RB1):c.702del (p.Leu234fs)	RB1	Pathogenic	13	48934247	48934247	TG	T	criteria provided, single submitter	ClinGen:CA645369534