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
single nucleotide variant	NM_177438.3(DICER1):c.5365-1G>A	DICER1	Pathogenic/Likely pathogenic	14	95557703	95557703	C	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_177438.3(DICER1):c.5364+1G>A	DICER1	Likely pathogenic	14	95560224	95560224	C	T	criteria provided, single submitter	ClinGen:CA390864842
Deletion	NM_177438.3(DICER1):c.5315_5316del (p.Phe1772fs)	DICER1	Pathogenic	14	95560273	95560274	CAA	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA10583185
Deletion	NM_177438.3(DICER1):c.5299del (p.His1767fs)	DICER1	Pathogenic	14	95560290	95560290	TG	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10586403
Deletion	NM_177438.3(DICER1):c.5261_5364+79del	DICER1	Pathogenic	14	95560146	95560328	CACTATGCCGTCAGAACTCTGAAACTACAGAGACTCCTAGTTAGACCACTTTTTTCAACATCGTTTTGAACAGCACTAACCTCAGAATCCATTCCTTGCATTTCATTCTTCTCAAGCTGAAACTGCACAAAGTCATCAATGACATGGAAGAGCTCAGGAGAGACAGCTTTGAAGTACTTGTGGT	C	criteria provided, single submitter	-
Deletion	NM_177438.3(DICER1):c.5251_5255del (p.Lys1751fs)	DICER1	Pathogenic	14	95560334	95560338	GTACTT	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA10586404
Deletion	NM_177438.3(DICER1):c.5235del (p.Phe1745fs)	DICER1	Pathogenic	14	95560354	95560354	CA	C	criteria provided, single submitter	ClinGen:CA645369606
Duplication	NM_177438.3(DICER1):c.5194dup (p.Leu1732fs)	DICER1	Pathogenic	14	95560394	95560395	A	AG	criteria provided, multiple submitters, no conflicts	ClinGen:CA10586405
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.5104C>T (p.Gln1702Ter)	DICER1	Pathogenic	14	95560485	95560485	G	A	reviewed by expert panel	ClinGen:CA10586407