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
Duplication	NM_000321.3(RB1):c.2473dup (p.Met825fs)	RB1	Pathogenic	13	49039483	49039484	C	CA	criteria provided, single submitter	-
Deletion	NM_000321.3(RB1):c.2465del (p.Pro822fs)	RB1	Pathogenic	13	49039479	49039479	AC	A	criteria provided, single submitter	ClinGen:CA483740393
Indel	NM_000321.2(RB1):c.2450_2453delinsTTT (p.Glu817fs)	RB1	Pathogenic	13	49039465	49039468	AAGG	TTT	criteria provided, single submitter	ClinGen:CA658798153
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
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
Deletion	NM_000321.3(RB1):c.2413_2420del (p.Tyr805fs)	RB1	Pathogenic	13	49039426	49039433	ATCTATATT	A	criteria provided, single submitter	ClinGen:CA645369596
Deletion	NM_000321.3(RB1):c.2405_2414del (p.Gly802fs)	RB1	Pathogenic	13	49039420	49039429	GGGAACATCTA	G	criteria provided, single submitter	-
single nucleotide variant	NM_000321.3(RB1):c.2370C>A (p.Tyr790Ter)	RB1	Pathogenic	13	49039385	49039385	C	A	criteria provided, single submitter	ClinGen:CA026439
single nucleotide variant	NM_000321.3(RB1):c.2339C>G (p.Ser780Ter)	RB1	Pathogenic	13	49039354	49039354	C	G	criteria provided, single submitter	-
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