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.1421+1del	RB1	Pathogenic	13	48954220	48954220	AG	A	criteria provided, single submitter	ClinGen:CA658656366
single nucleotide variant	NM_000321.3(RB1):c.1411C>T (p.Gln471Ter)	RB1	Likely pathogenic	13	48954210	48954210	C	T	criteria provided, single submitter	ClinGen:CA388162715
Duplication	NM_000321.3(RB1):c.1400_1403dup (p.Ser469fs)	RB1	Likely pathogenic	13	48954198	48954199	C	CGATT	criteria provided, single submitter	ClinGen:CA658683872
single nucleotide variant	NM_000321.3(RB1):c.1390-2A>G	RB1	Pathogenic/Likely pathogenic	13	48954187	48954187	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA388162661
Deletion	NM_000321.3(RB1):c.1419del (p.Phe473fs)	RB1	Pathogenic/Likely pathogenic	13	48954215	48954215	AT	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA658683873
single nucleotide variant	NM_000321.3(RB1):c.1421G>T (p.Ser474Ile)	RB1	Likely pathogenic	13	48954220	48954220	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA388162742
Deletion	NM_000321.3(RB1):c.2488_2489+7del	RB1	Pathogenic	13	49039503	49039511	AAGGTGTGTG	A	criteria provided, single submitter	ClinGen:CA483740435
Duplication	NM_000321.3(RB1):c.597_601dup (p.Ala201delinsAspTer)	RB1	Pathogenic	13	48923148	48923149	T	TATTAG	criteria provided, single submitter	ClinGen:CA658798141
Deletion	NC_000013.11:g.(?_48303907)_(48480077_?)del	RB1	Pathogenic	13	48878043	49054213	na	na	criteria provided, single submitter	-
Deletion	NC_000013.11:g.(?_48464992)_(48465374_?)del	RB1	Pathogenic	13	49039128	49039510	na	na	criteria provided, single submitter	-