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_000321.2(RB1):c.-198G>A	RB1	Pathogenic	13	48877851	48877851	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA026385,OMIM:614041.0018
Duplication	NM_000321.3(RB1):c.9_42dup (p.Ala15fs)	RB1	Pathogenic	13	48878050	48878051	T	TGCCGCCCAAAACCCCCCGAAAAACGGCCGCCACC	criteria provided, single submitter	ClinGen:CA645369599
Duplication	NM_000321.3(RB1):c.19dup (p.Arg7fs)	RB1	Pathogenic	13	48878061	48878062	A	AC	criteria provided, multiple submitters, no conflicts	ClinGen:CA609859297
Indel	NM_000321.2(RB1):c.19_21delinsGG (p.Arg7fs)	RB1	Pathogenic	13	48878067	48878069	CGA	GG	criteria provided, single submitter	ClinGen:CA645369600
Deletion	NM_000321.3(RB1):c.36del (p.Ala13fs)	RB1	Pathogenic	13	48878083	48878083	AC	A	criteria provided, single submitter	-
Duplication	NM_000321.3(RB1):c.45_70dup (p.Pro24fs)	RB1	Pathogenic	13	48878088	48878089	G	GCCGCTGCCGCCGCGGAACCCCCGGCA	criteria provided, single submitter	-
Duplication	NM_000321.3(RB1):c.54_76dup (p.Pro26fs)	RB1	Pathogenic/Likely pathogenic	13	48878093	48878094	T	TGCCGCCGCGGAACCCCCGGCACC	criteria provided, multiple submitters, no conflicts	ClinGen:CA645369601
Duplication	NM_000321.3(RB1):c.54_73dup (p.Pro25fs)	RB1	Pathogenic	13	48878094	48878095	G	GCCGCCGCGGAACCCCCGGCA	criteria provided, single submitter	ClinGen:CA658658234
Deletion	NM_000321.3(RB1):c.37_65del (p.Ala13fs)	RB1	Pathogenic	13	48878084	48878112	CCGCCGCCGCTGCCGCCGCGGAACCCCCGG	C	criteria provided, single submitter	ClinGen:CA16614430
Deletion	NM_000321.3(RB1):c.45_76del (p.Ala17fs)	RB1	Pathogenic	13	48878081	48878112	CCACCGCCGCCGCTGCCGCCGCGGAACCCCCGG	C	criteria provided, single submitter	-