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.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.1422-1G>A	RB1	Pathogenic	13	48954300	48954300	G	A	criteria provided, single submitter	ClinGen:CA388162752
Deletion	NM_000321.3(RB1):c.1633_1640del (p.Glu545fs)	RB1	Pathogenic	13	48955517	48955524	AGAAATGAT	A	criteria provided, single submitter	ClinGen:CA658798146
Deletion	NM_000321.3(RB1):c.510del (p.Glu170fs)	RB1	Pathogenic	13	48921969	48921969	GA	G	criteria provided, single submitter	ClinGen:CA658798140
Indel	NM_000321.2(RB1):c.2450_2453delinsTTT (p.Glu817fs)	RB1	Pathogenic	13	49039465	49039468	AAGG	TTT	criteria provided, single submitter	ClinGen:CA658798153
single nucleotide variant	NM_000321.3(RB1):c.380+3A>T	RB1	Pathogenic	13	48916853	48916853	A	T	criteria provided, single submitter	ClinGen:CA658798139
single nucleotide variant	NM_000321.3(RB1):c.861G>A (p.Glu287=)	RB1	Pathogenic	13	48937093	48937093	G	A	criteria provided, single submitter	ClinGen:CA483557973
single nucleotide variant	NM_000321.3(RB1):c.1332G>C (p.Gln444His)	RB1	Pathogenic	13	48951170	48951170	G	C	criteria provided, single submitter	ClinGen:CA388162194
single nucleotide variant	NM_000321.3(RB1):c.2211G>T (p.Glu737Asp)	RB1	Pathogenic	13	49037971	49037971	G	T	criteria provided, single submitter	ClinGen:CA388167239
Insertion	NM_000321.3(RB1):c.2247_2248insAA (p.Asp750fs)	RB1	Pathogenic	13	49039169	49039170	T	TAA	criteria provided, single submitter	ClinGen:CA658798152