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.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
Deletion	NM_177438.3(DICER1):c.3538_3539del (p.Tyr1180fs)	DICER1	Pathogenic	14	95570194	95570195	GTA	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA10586428
Insertion	NM_177438.3(DICER1):c.3534_3535insAA (p.Ser1179fs)	DICER1	Pathogenic	14	95570198	95570199	A	ATT	criteria provided, multiple submitters, no conflicts	ClinGen:CA10586429
Indel	NM_177438.3(DICER1):c.3515_3525delinsA (p.Leu1172fs)	DICER1	Pathogenic	14	95570208	95570218	AATTGCTGTAA	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10586430
Deletion	NM_177438.3(DICER1):c.3300del (p.Lys1100fs)	DICER1	Pathogenic	14	95570433	95570433	AT	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10586431
Deletion	NM_177438.3(DICER1):c.3277_3280del (p.Pro1092_Asn1093insTer)	DICER1	Pathogenic	14	95570453	95570456	AAGTT	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10586432