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
single nucleotide variant	NM_000321.3(RB1):c.1960+5G>C	RB1	Pathogenic	13	49030490	49030490	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA645369526
single nucleotide variant	NM_000321.3(RB1):c.2014G>T (p.Glu672Ter)	RB1	Pathogenic	13	49033877	49033877	G	T	criteria provided, single submitter	ClinGen:CA388166764
Deletion	NM_000321.3(RB1):c.2055del (p.Gln685fs)	RB1	Pathogenic	13	49033918	49033918	AG	A	criteria provided, single submitter	ClinGen:CA645369598
single nucleotide variant	NM_000321.3(RB1):c.2094G>C (p.Arg698Ser)	RB1	Pathogenic/Likely pathogenic	13	49033957	49033957	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA388166951
single nucleotide variant	NM_000321.3(RB1):c.2104C>T (p.Gln702Ter)	RB1	Pathogenic	13	49033967	49033967	C	T	criteria provided, single submitter	ClinGen:CA388166977
single nucleotide variant	NM_000321.3(RB1):c.2105A>G (p.Gln702Arg)	RB1	Pathogenic	13	49033968	49033968	A	G	criteria provided, single submitter	ClinGen:CA388166979
single nucleotide variant	NM_000321.3(RB1):c.2107-1G>A	RB1	Likely pathogenic	13	49037866	49037866	G	A	criteria provided, single submitter	ClinGen:CA388166993
Deletion	NM_000321.3(RB1):c.2128_2132del (p.Gly710fs)	RB1	Pathogenic	13	49037886	49037890	TATGGC	T	criteria provided, single submitter	ClinGen:CA645369527
Deletion	NM_000321.3(RB1):c.2299_2302del (p.Asn767fs)	RB1	Pathogenic	13	49039220	49039223	CAAAT	C	criteria provided, single submitter	ClinGen:CA645369595
single nucleotide variant	NM_000321.3(RB1):c.2325+1G>A	RB1	Pathogenic	13	49039248	49039248	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA388167737