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
Duplication	NM_000321.3(RB1):c.1331_1332dup (p.Arg445fs)	RB1	Pathogenic	13	48951168	48951169	C	CAG	criteria provided, single submitter	-
Deletion	NM_000321.3(RB1):c.1512_1513del (p.Asn505fs)	RB1	Pathogenic	13	48955395	48955396	CAG	C	criteria provided, single submitter	-
single nucleotide variant	NM_000321.3(RB1):c.1625T>A (p.Leu542Ter)	RB1	Pathogenic	13	48955509	48955509	T	A	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_000321.3(RB1):c.1629_1630del (p.Glu545fs)	RB1	Pathogenic	13	48955513	48955514	CAA	C	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000321.3(RB1):c.1659T>A (p.Cys553Ter)	RB1	Pathogenic	13	48955543	48955543	T	A	criteria provided, single submitter	-
Duplication	NM_000321.3(RB1):c.1686dup (p.Trp563fs)	RB1	Pathogenic	13	48955569	48955570	C	CA	criteria provided, single submitter	-
Deletion	NM_000321.3(RB1):c.1950_1953del (p.Phe650fs)	RB1	Pathogenic	13	49030474	49030477	TTTTA	T	criteria provided, single submitter	-
Deletion	NM_000321.3(RB1):c.1978_1996del (p.Leu660fs)	RB1	Pathogenic	13	49033840	49033858	ATCTCCGGCTAAATACACTT	A	criteria provided, single submitter	-
Duplication	NM_000321.3(RB1):c.2131dup (p.Ile711fs)	RB1	Pathogenic	13	49037890	49037891	C	CA	criteria provided, single submitter	-
Indel	NM_000321.3(RB1):c.2160_2167delinsC (p.Lys720fs)	RB1	Pathogenic	13	49037920	49037927	ATTCAAAA	C	criteria provided, single submitter	-