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	NC_000013.11:g.(?_48379594)_(48381443_?)del	RB1	Likely pathogenic	13	48953730	48955579	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_000321.3(RB1):c.1215+2T>G	RB1	Pathogenic	13	48947630	48947630	T	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA16614303
single nucleotide variant	NM_000321.3(RB1):c.1389+1G>T	RB1	Pathogenic	13	48953787	48953787	G	T	criteria provided, single submitter	ClinGen:CA16614310
single nucleotide variant	NM_000321.3(RB1):c.1390-14A>G	RB1	Pathogenic	13	48954175	48954175	A	G	criteria provided, single submitter	ClinGen:CA16614313
Deletion	NM_000321.3(RB1):c.37_65del (p.Ala13fs)	RB1	Pathogenic	13	48878084	48878112	CCGCCGCCGCTGCCGCCGCGGAACCCCCGG	C	criteria provided, single submitter	ClinGen:CA16614430
single nucleotide variant	NM_000321.3(RB1):c.967G>T (p.Glu323Ter)	RB1	Pathogenic	13	48941657	48941657	G	T	criteria provided, single submitter	ClinGen:CA16614439
single nucleotide variant	NM_000321.3(RB1):c.607+1G>A	RB1	Pathogenic	13	48923160	48923160	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16619811
Deletion	NM_000321.3(RB1):c.861+2del	RB1	Pathogenic	13	48937095	48937095	GT	G	criteria provided, single submitter	ClinGen:CA16619812
Duplication	NM_000321.3(RB1):c.9_42dup (p.Ala15fs)	RB1	Pathogenic	13	48878050	48878051	T	TGCCGCCCAAAACCCCCCGAAAAACGGCCGCCACC	criteria provided, single submitter	ClinGen:CA645369599
Indel	NM_000321.2(RB1):c.19_21delinsGG (p.Arg7fs)	RB1	Pathogenic	13	48878067	48878069	CGA	GG	criteria provided, single submitter	ClinGen:CA645369600