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.4309_4312del (p.Asp1437fs)	DICER1	Pathogenic	14	95562945	95562948	TAGTC	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10586418
single nucleotide variant	NM_177438.3(DICER1):c.4190G>A (p.Trp1397Ter)	DICER1	Pathogenic	14	95566133	95566133	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10586419
Deletion	NM_177438.3(DICER1):c.3875_3878del (p.Pro1292fs)	DICER1	Pathogenic	14	95569855	95569858	ATTGG	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10586420
Duplication	NM_177438.3(DICER1):c.3777dup (p.Val1260fs)	DICER1	Pathogenic	14	95569955	95569956	C	CG	criteria provided, multiple submitters, no conflicts	ClinGen:CA10586421
single nucleotide variant	NM_177438.3(DICER1):c.3726C>A (p.Tyr1242Ter)	DICER1	Pathogenic	14	95570007	95570007	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10586422
single nucleotide variant	NM_177438.3(DICER1):c.3676G>T (p.Glu1226Ter)	DICER1	Pathogenic	14	95570057	95570057	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10586423
single nucleotide variant	NM_177438.3(DICER1):c.3658C>T (p.Gln1220Ter)	DICER1	Pathogenic	14	95570075	95570075	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10586424
Deletion	NM_177438.3(DICER1):c.3589del (p.Cys1197fs)	DICER1	Pathogenic	14	95570144	95570144	CA	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA10586425
Deletion	NM_177438.3(DICER1):c.3579_3580del (p.Asn1193fs)	DICER1	Pathogenic	14	95570153	95570154	CTG	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA10586426
single nucleotide variant	NM_177438.3(DICER1):c.3540C>A (p.Tyr1180Ter)	DICER1	Pathogenic	14	95570193	95570193	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10586427