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	-
Deletion	NM_000321.3(RB1):c.1421+12_1421+32del	RB1	Likely pathogenic	13	48954223	48954243	TAAATTTTTTACTTTTAGTAAA	T	criteria provided, single submitter	ClinGen:CA269950
single nucleotide variant	NM_000321.3(RB1):c.1960+5G>A	RB1	Likely pathogenic	13	49030490	49030490	G	A	criteria provided, single submitter	ClinGen:CA026412
single nucleotide variant	NM_000321.3(RB1):c.1049+1G>T	RB1	Likely pathogenic	13	48941740	48941740	G	T	criteria provided, single submitter	ClinGen:CA026361,OMIM:614041.0007