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.904-1G>C	DICER1	Pathogenic/Likely pathogenic	14	95591006	95591006	C	G	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_177438.3(DICER1):c.1376+1G>A	DICER1	Pathogenic/Likely pathogenic	14	95590532	95590532	C	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_177438.3(DICER1):c.5096-12G>A	DICER1	Likely pathogenic	14	95560505	95560505	C	T	reviewed by expert panel	-
single nucleotide variant	NM_177438.3(DICER1):c.1847T>A (p.Leu616Ter)	DICER1	Pathogenic	14	95582064	95582064	A	T	criteria provided, single submitter	-
single nucleotide variant	NM_177438.3(DICER1):c.3688C>T (p.Gln1230Ter)	DICER1	Pathogenic	14	95570045	95570045	G	A	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_177438.3(DICER1):c.4762del (p.Gly1587_Leu1588insTer)	DICER1	Pathogenic	14	95562495	95562495	AG	A	criteria provided, single submitter	-
single nucleotide variant	NM_177438.3(DICER1):c.2987+1G>A	DICER1	Pathogenic/Likely pathogenic	14	95572377	95572377	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA390878746
single nucleotide variant	NM_177438.3(DICER1):c.947G>A (p.Trp316Ter)	DICER1	Pathogenic	14	95590962	95590962	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA390887315
Duplication	NM_177438.3(DICER1):c.2370_2373dup (p.Leu792fs)	DICER1	Pathogenic	14	95574723	95574724	G	GCTTC	criteria provided, single submitter	ClinGen:CA658798255
Duplication	NM_177438.3(DICER1):c.757dup (p.Ile253fs)	DICER1	Pathogenic	14	95593062	95593063	A	AT	criteria provided, single submitter	ClinGen:CA658798260