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.2663+2T>C	RB1	Pathogenic	13	49050981	49050981	T	C	criteria provided, single submitter	ClinGen:CA026445
single nucleotide variant	NM_000321.3(RB1):c.2520+1G>A	RB1	Pathogenic	13	49047527	49047527	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA026443
single nucleotide variant	NM_000321.3(RB1):c.2164A>T (p.Lys722Ter)	RB1	Pathogenic	13	49037924	49037924	A	T	criteria provided, single submitter	ClinGen:CA026424
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.1735C>T (p.Arg579Ter)	RB1	Pathogenic	13	49027168	49027168	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA026398
single nucleotide variant	NM_000321.3(RB1):c.1723C>T (p.Gln575Ter)	RB1	Pathogenic	13	49027156	49027156	C	T	criteria provided, single submitter	ClinGen:CA026397
single nucleotide variant	NM_000321.3(RB1):c.1960G>A (p.Val654Met)	RB1	Pathogenic	13	49030485	49030485	G	A	criteria provided, single submitter	ClinGen:CA026413
Indel	NM_000321.3(RB1):c.2067_2079delinsCAC (p.Gln689fs)	RB1	Pathogenic	13	49033930	49033942	GAATGAGTATGAA	CAC	criteria provided, single submitter	ClinGen:CA026419
Duplication	NM_000321.3(RB1):c.1585dup (p.Tyr529fs)	RB1	Pathogenic	13	48955464	48955465	A	AT	criteria provided, single submitter	ClinGen:CA026382
single nucleotide variant	NM_000321.3(RB1):c.1399C>T (p.Arg467Ter)	RB1	Pathogenic	13	48954198	48954198	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA026376