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
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.283A>T (p.Lys95Ter)	RB1	Pathogenic	13	48916753	48916753	A	T	criteria provided, single submitter	ClinGen:CA388252351
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
Insertion	NM_000321.3(RB1):c.297_298insA (p.Gly100fs)	RB1	Pathogenic	13	48916767	48916768	G	GA	criteria provided, single submitter	-
Deletion	NM_000321.3(RB1):c.305_306del (p.Cys102fs)	RB1	Pathogenic	13	48916774	48916775	CTG	C	criteria provided, single submitter	ClinGen:CA026448
Deletion	NM_000321.3(RB1):c.371_372del (p.Ile124fs)	RB1	Pathogenic	13	48916840	48916841	CAT	C	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_000321.3(RB1):c.376del (p.Ile126fs)	RB1	Pathogenic	13	48916844	48916844	GA	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA10604120
single nucleotide variant	NM_000321.3(RB1):c.380G>A (p.Ser127Asn)	RB1	Likely pathogenic	13	48916850	48916850	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA388252575
single nucleotide variant	NM_000321.3(RB1):c.380G>C (p.Ser127Thr)	RB1	Likely pathogenic	13	48916850	48916850	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA388252576
single nucleotide variant	NM_000321.3(RB1):c.380+1G>A	RB1	Pathogenic	13	48916851	48916851	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA388252578