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.54_79del (p.Glu19fs)	RB1	Pathogenic	13	48878094	48878119	TGCCGCCGCGGAACCCCCGGCACCGCC	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA026461
Deletion	NM_000321.3(RB1):c.83del (p.Pro28fs)	RB1	Pathogenic	13	48878127	48878127	GC	G	criteria provided, single submitter	-
Duplication	NM_000321.3(RB1):c.92dup (p.Asp32fs)	RB1	Pathogenic	13	48878139	48878140	G	GA	criteria provided, single submitter	-
single nucleotide variant	NM_000321.3(RB1):c.103C>T (p.Gln35Ter)	RB1	Pathogenic	13	48878151	48878151	C	T	criteria provided, single submitter	ClinGen:CA026359
Deletion	NM_000321.3(RB1):c.106del (p.Asp36fs)	RB1	Pathogenic	13	48878153	48878153	AG	A	criteria provided, single submitter	ClinGen:CA645369602
single nucleotide variant	NM_000321.3(RB1):c.137+1G>T	RB1	Pathogenic	13	48878186	48878186	G	T	criteria provided, single submitter	ClinGen:CA388250409
single nucleotide variant	NM_000321.3(RB1):c.264+1G>A	RB1	Pathogenic	13	48881543	48881543	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA388250701
Deletion	NC_000013.11:g.(?_48303903)_(48307416_?)del	RB1	Pathogenic	13	48878039	48881552	na	na	criteria provided, single submitter	-
Deletion	NM_000321.3(RB1):c.272_276del (p.Tyr91fs)	RB1	Pathogenic	13	48916740	48916744	GTTATA	G	criteria provided, single submitter	-
single nucleotide variant	NM_000321.3(RB1):c.277C>T (p.Gln93Ter)	RB1	Pathogenic/Likely pathogenic	13	48916747	48916747	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA388252335