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.2325+1G>C	RB1	Pathogenic/Likely pathogenic	13	49039248	49039248	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA388167738
Deletion	NM_000321.3(RB1):c.2413_2420del (p.Tyr805fs)	RB1	Pathogenic	13	49039426	49039433	ATCTATATT	A	criteria provided, single submitter	ClinGen:CA645369596
single nucleotide variant	NM_000321.3(RB1):c.2439T>A (p.Tyr813Ter)	RB1	Pathogenic	13	49039454	49039454	T	A	criteria provided, single submitter	ClinGen:CA388167985
single nucleotide variant	NM_000321.3(RB1):c.2439T>G (p.Tyr813Ter)	RB1	Pathogenic	13	49039454	49039454	T	G	criteria provided, single submitter	ClinGen:CA388167986
Deletion	NM_000321.3(RB1):c.2465del (p.Pro822fs)	RB1	Pathogenic	13	49039479	49039479	AC	A	criteria provided, single submitter	ClinGen:CA483740393
single nucleotide variant	NM_000321.3(RB1):c.2489+1G>A	RB1	Pathogenic	13	49039505	49039505	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA035748
single nucleotide variant	NM_000321.3(RB1):c.2501C>A (p.Ser834Ter)	RB1	Pathogenic	13	49047507	49047507	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA388168125
single nucleotide variant	NM_000321.3(RB1):c.2513C>A (p.Ser838Ter)	RB1	Pathogenic	13	49047519	49047519	C	A	criteria provided, single submitter	ClinGen:CA388168153
single nucleotide variant	NM_000321.3(RB1):c.2520+1G>T	RB1	Pathogenic	13	49047527	49047527	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA388168168
Deletion	NM_000321.3(RB1):c.2520+3_2520+6del	RB1	Pathogenic	13	49047527	49047530	GGTGA	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA645369528