DICER1症候群 - MGenReviews

DICER1症候群

腫瘍性疾患

表のタイトル行が青色の項目は、クリックすることでソートすることができます。

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_177438.3(DICER1):c.4654C>T (p.Gln1552Ter)	DICER1	Pathogenic/Likely pathogenic	14	95562603	95562603	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA390867598
Indel	NM_177438.3(DICER1):c.735-1_741delinsA	DICER1	Pathogenic/Likely pathogenic	14	95593079	95593086	AGTATACC	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10586466
single nucleotide variant	NM_177438.3(DICER1):c.5123G>A (p.Gly1708Glu)	DICER1	Pathogenic/Likely pathogenic	14	95560466	95560466	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10586406
single nucleotide variant	NM_177438.3(DICER1):c.4050+1G>A	DICER1	Pathogenic/Likely pathogenic	14	95569682	95569682	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10576130
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
single nucleotide variant	NM_177438.3(DICER1):c.5103C>A (p.Tyr1701Ter)	DICER1	Pathogenic/Likely pathogenic	14	95560486	95560486	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10576126
Deletion	NM_177438.3(DICER1):c.2988-20_2988del	DICER1	Pathogenic	14	95572120	95572140	GTCTGTAAGAATTCCAAAACAA	G	criteria provided, single submitter	-
single nucleotide variant	NM_177438.3(DICER1):c.4050+2T>C	DICER1	Pathogenic	14	95569681	95569681	A	G	criteria provided, single submitter	-
Deletion	NC_000014.9:g.(?_95090488)_(95133468_?)del	DICER1	Pathogenic	14	95556825	95599805	na	na	criteria provided, single submitter	-
Deletion	NM_177438.3(DICER1):c.1280_1283del (p.Lys427fs)	DICER1	Pathogenic	14	95590626	95590629	CTCTT	C	criteria provided, single submitter	-