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.709G>T (p.Glu237Ter)	RB1	Pathogenic	13	48934254	48934254	G	T	criteria provided, single submitter	ClinGen:CA388158618
Indel	NM_000321.3(RB1):c.731_732delinsATC (p.Ile244fs)	RB1	Pathogenic	13	48936963	48936964	TA	ATC	criteria provided, single submitter	ClinGen:CA645369536
Deletion	NM_000321.3(RB1):c.735del (p.Ile246fs)	RB1	Pathogenic	13	48936965	48936965	AC	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA645369537
single nucleotide variant	NM_000321.3(RB1):c.751C>T (p.Arg251Ter)	RB1	Pathogenic	13	48936983	48936983	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA388159319
Deletion	NM_000321.3(RB1):c.846del (p.Glu282fs)	RB1	Pathogenic	13	48937077	48937077	GA	G	criteria provided, single submitter	ClinGen:CA645369538
single nucleotide variant	NM_000321.3(RB1):c.857A>G (p.Asp286Gly)	RB1	Pathogenic/Likely pathogenic	13	48937089	48937089	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA388159708
single nucleotide variant	NM_000321.3(RB1):c.862-2A>C	RB1	Pathogenic	13	48939028	48939028	A	C	criteria provided, single submitter	ClinGen:CA388159814
Deletion	NM_000321.3(RB1):c.869del (p.Asn290fs)	RB1	Pathogenic	13	48939033	48939033	GA	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA645369539
single nucleotide variant	NM_000321.3(RB1):c.940-1G>A	RB1	Pathogenic	13	48941629	48941629	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA388160560
single nucleotide variant	NM_000321.3(RB1):c.964G>T (p.Glu322Ter)	RB1	Pathogenic	13	48941654	48941654	G	T	criteria provided, single submitter	ClinGen:CA388160650