DICER1症候群 - MGenReviews

DICER1症候群

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_177438.3(DICER1):c.4633dup (p.Ser1545fs)	DICER1	Pathogenic/Likely pathogenic	14	95562623	95562624	G	GA	criteria provided, multiple submitters, no conflicts	ClinGen:CA10576128
Deletion	NM_177438.3(DICER1):c.4626del (p.Gln1542fs)	DICER1	Pathogenic	14	95562631	95562631	AC	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10586411
single nucleotide variant	NM_177438.3(DICER1):c.4621A>T (p.Lys1541Ter)	DICER1	Pathogenic	14	95562636	95562636	T	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10586412
Deletion	NM_177438.3(DICER1):c.4555del (p.Glu1519fs)	DICER1	Pathogenic	14	95562702	95562702	TC	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA645369615
single nucleotide variant	NM_177438.3(DICER1):c.4533T>A (p.Tyr1511Ter)	DICER1	Pathogenic	14	95562724	95562724	A	T	criteria provided, single submitter	ClinGen:CA390867918
single nucleotide variant	NM_177438.3(DICER1):c.4517G>A (p.Trp1506Ter)	DICER1	Pathogenic	14	95562740	95562740	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10586414
Deletion	NM_177438.3(DICER1):c.4511del (p.Ser1504fs)	DICER1	Pathogenic	14	95562746	95562746	GC	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA10586415
Duplication	NM_177438.3(DICER1):c.4458dup (p.Ser1487fs)	DICER1	Pathogenic/Likely pathogenic	14	95562798	95562799	A	AT	criteria provided, multiple submitters, no conflicts	ClinGen:CA645369616
Insertion	NM_177438.3(DICER1):c.4426_4427insT (p.Asp1476fs)	DICER1	Pathogenic	14	95562830	95562831	T	TA	criteria provided, multiple submitters, no conflicts	ClinGen:CA10586416
Deletion	NM_177438.3(DICER1):c.4407_4410del (p.Ser1470fs)	DICER1	Pathogenic	14	95562847	95562850	GAGAA	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA10576129