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
Deletion	NM_177438.3(DICER1):c.1706_1710del (p.Ile569fs)	DICER1	Pathogenic	14	95582832	95582836	TTTTTA	T	criteria provided, single submitter	ClinGen:CA16614550
Deletion	NM_177438.3(DICER1):c.1716del (p.Phe572fs)	DICER1	Pathogenic	14	95582826	95582826	CA	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA10586453
Deletion	NM_177438.3(DICER1):c.1726del (p.Thr578fs)	DICER1	Pathogenic	14	95582816	95582816	AG	A	criteria provided, single submitter	ClinGen:CA658656448
Duplication	NM_177438.3(DICER1):c.1732dup (p.Thr578fs)	DICER1	Pathogenic	14	95582809	95582810	G	GT	criteria provided, single submitter	ClinGen:CA645369623
Deletion	NM_177438.3(DICER1):c.1747del (p.Glu583fs)	DICER1	Pathogenic	14	95582795	95582795	TC	T	criteria provided, single submitter	ClinGen:CA16614258
Deletion	NM_177438.3(DICER1):c.1749_1753del (p.Glu583fs)	DICER1	Pathogenic	14	95582790	95582794	CCTTTT	C	criteria provided, single submitter	ClinGen:CA645369621
Deletion	NM_177438.3(DICER1):c.1752+1del	DICER1	Pathogenic	14	95582789	95582789	AC	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10586452
Deletion	NM_177438.3(DICER1):c.1767del (p.Lys589fs)	DICER1	Pathogenic	14	95582144	95582144	AC	A	criteria provided, single submitter	ClinGen:CA16614256
Deletion	NM_177438.3(DICER1):c.1787del (p.Thr596fs)	DICER1	Pathogenic	14	95582124	95582124	AG	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10586451
Insertion	NM_177438.3(DICER1):c.1827_1828insAG (p.Val610fs)	DICER1	Pathogenic	14	95582083	95582084	C	CCT	criteria provided, multiple submitters, no conflicts	ClinGen:CA10586450