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.83del (p.Pro28fs)	RB1	Pathogenic	13	48878127	48878127	GC	G	criteria provided, single submitter	-
Deletion	NM_000321.3(RB1):c.36del (p.Ala13fs)	RB1	Pathogenic	13	48878083	48878083	AC	A	criteria provided, single submitter	-
single nucleotide variant	NM_000321.3(RB1):c.652T>G (p.Leu218Val)	RB1	Likely pathogenic	13	48934197	48934197	T	G	criteria provided, single submitter	-
Duplication	NM_000321.3(RB1):c.465_468dup (p.Val157Ter)	RB1	Pathogenic	13	48919299	48919300	A	ATGAT	criteria provided, single submitter	-
single nucleotide variant	NM_000321.3(RB1):c.388A>T (p.Lys130Ter)	RB1	Pathogenic	13	48919223	48919223	A	T	criteria provided, single submitter	-
Insertion	NM_000321.3(RB1):c.297_298insA (p.Gly100fs)	RB1	Pathogenic	13	48916767	48916768	G	GA	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	-
Deletion	NC_000013.11:g.(?_48345074)_(48345205_?)del	RB1	Pathogenic	13	48919210	48919341	na	na	criteria provided, single submitter	-
Deletion	NC_000013.11:g.(?_48303903)_(48480081_?)del	RB1	Pathogenic	13	48878039	49054217	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_000321.3(RB1):c.2520+5G>T	RB1	Pathogenic	13	49047531	49047531	G	T	criteria provided, single submitter	-