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.4621A>T (p.Lys1541Ter)	DICER1	Pathogenic	14	95562636	95562636	T	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10586412
single nucleotide variant	NM_177438.3(DICER1):c.4517G>A (p.Trp1506Ter)	DICER1	Pathogenic	14	95562740	95562740	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10586414
Deletion	NM_177438.3(DICER1):c.4511del (p.Ser1504fs)	DICER1	Pathogenic	14	95562746	95562746	GC	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA10586415
Insertion	NM_177438.3(DICER1):c.4426_4427insT (p.Asp1476fs)	DICER1	Pathogenic	14	95562830	95562831	T	TA	criteria provided, multiple submitters, no conflicts	ClinGen:CA10586416
Deletion	NM_177438.3(DICER1):c.4407_4408del (p.Pro1471fs)	DICER1	Pathogenic	14	95562849	95562850	GAA	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA10586417
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