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.19dup (p.Arg7fs)	RB1	Pathogenic	13	48878061	48878062	A	AC	criteria provided, multiple submitters, no conflicts	ClinGen:CA609859297
Duplication	NM_000321.3(RB1):c.54_76dup (p.Pro26fs)	RB1	Pathogenic/Likely pathogenic	13	48878093	48878094	T	TGCCGCCGCGGAACCCCCGGCACC	criteria provided, multiple submitters, no conflicts	ClinGen:CA645369601
Deletion	NM_000321.3(RB1):c.106del (p.Asp36fs)	RB1	Pathogenic	13	48878153	48878153	AG	A	criteria provided, single submitter	ClinGen:CA645369602
single nucleotide variant	NM_000321.3(RB1):c.137+1G>T	RB1	Pathogenic	13	48878186	48878186	G	T	criteria provided, single submitter	ClinGen:CA388250409
single nucleotide variant	NM_000321.3(RB1):c.264+1G>A	RB1	Pathogenic	13	48881543	48881543	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA388250701
single nucleotide variant	NM_000321.3(RB1):c.277C>T (p.Gln93Ter)	RB1	Pathogenic/Likely pathogenic	13	48916747	48916747	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA388252335
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.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