網膜芽細胞腫 - MGenReviews

網膜芽細胞腫

腫瘍性疾患

表のタイトル行が青色の項目は、クリックすることでソートすることができます。

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.1239_1240del (p.Ser414fs)	RB1	Pathogenic	13	48951076	48951077	GAA	G	criteria provided, single submitter	ClinGen:CA658798142
single nucleotide variant	NM_000321.3(RB1):c.2663G>A (p.Ser888Asn)	RB1	Likely pathogenic	13	49050979	49050979	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA388157668
Deletion	NM_000321.3(RB1):c.889del (p.Ile297fs)	RB1	Pathogenic	13	48939057	48939057	TA	T	criteria provided, single submitter	-
Deletion	NC_000013.11:g.(?_48476691)_(48477414_?)del	RB1	Pathogenic	13	49050827	49051550	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_000321.3(RB1):c.1390-2A>C	RB1	Pathogenic	13	48954187	48954187	A	C	criteria provided, single submitter	-
Deletion	NM_000321.3(RB1):c.1445_1446del (p.Phe482fs)	RB1	Pathogenic	13	48954321	48954322	ATT	A	criteria provided, single submitter	-
Duplication	NM_000321.3(RB1):c.1959dup (p.Val654fs)	RB1	Pathogenic	13	49030478	49030479	T	TA	criteria provided, single submitter	-
Duplication	NM_000321.3(RB1):c.2172dup (p.Val725fs)	RB1	Pathogenic	13	49037930	49037931	A	AT	criteria provided, single submitter	-
single nucleotide variant	NM_000321.3(RB1):c.539+1G>A	RB1	Likely pathogenic	13	48922000	48922000	G	A	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_000321.3(RB1):c.772_776del (p.Asn258fs)	RB1	Pathogenic	13	48937001	48937005	TCAGAA	T	criteria provided, multiple submitters, no conflicts	-