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
Insertion	NM_000321.3(RB1):c.297_298insA (p.Gly100fs)	RB1	Pathogenic	13	48916767	48916768	G	GA	criteria provided, single submitter	-
single nucleotide variant	NM_000321.3(RB1):c.297G>A (p.Trp99Ter)	RB1	Pathogenic	13	48916767	48916767	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA026447
single nucleotide variant	NM_000321.3(RB1):c.283A>T (p.Lys95Ter)	RB1	Pathogenic	13	48916753	48916753	A	T	criteria provided, single submitter	ClinGen:CA388252351
Duplication	NM_000321.3(RB1):c.281dup (p.Lys95fs)	RB1	Pathogenic	13	48916747	48916748	C	CA	criteria provided, single submitter	ClinGen:CA645369550
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
Deletion	NM_000321.3(RB1):c.272_276del (p.Tyr91fs)	RB1	Pathogenic	13	48916740	48916744	GTTATA	G	criteria provided, single submitter	-
Deletion	NC_000013.11:g.(?_48303903)_(48307416_?)del	RB1	Pathogenic	13	48878039	48881552	na	na	criteria provided, single submitter	-
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
single nucleotide variant	NM_000321.3(RB1):c.137+1G>T	RB1	Pathogenic	13	48878186	48878186	G	T	criteria provided, single submitter	ClinGen:CA388250409
Deletion	NM_000321.3(RB1):c.106del (p.Asp36fs)	RB1	Pathogenic	13	48878153	48878153	AG	A	criteria provided, single submitter	ClinGen:CA645369602