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
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	-
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
single nucleotide variant	NM_000321.3(RB1):c.1421G>T (p.Ser474Ile)	RB1	Likely pathogenic	13	48954220	48954220	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA388162742
Duplication	NM_000321.3(RB1):c.1400_1403dup (p.Ser469fs)	RB1	Likely pathogenic	13	48954198	48954199	C	CGATT	criteria provided, single submitter	ClinGen:CA658683872
single nucleotide variant	NM_000321.3(RB1):c.1411C>T (p.Gln471Ter)	RB1	Likely pathogenic	13	48954210	48954210	C	T	criteria provided, single submitter	ClinGen:CA388162715
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
single nucleotide variant	NM_000321.3(RB1):c.1498+1G>A	RB1	Likely pathogenic	13	48954378	48954378	G	A	criteria provided, single submitter	ClinGen:CA388162927
single nucleotide variant	NM_000321.3(RB1):c.1389+4A>C	RB1	Likely pathogenic	13	48953790	48953790	A	C	criteria provided, single submitter	ClinGen:CA645369546
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.380G>A (p.Ser127Asn)	RB1	Likely pathogenic	13	48916850	48916850	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA388252575