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.2158_2159del (p.Thr719_Val720insTer)	DICER1	Pathogenic	14	95577751	95577752	AAC	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10586444
single nucleotide variant	NM_177438.3(DICER1):c.2062C>T (p.Arg688Ter)	DICER1	Pathogenic	14	95578563	95578563	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10586445
single nucleotide variant	NM_177438.3(DICER1):c.2040+1G>T	DICER1	Pathogenic	14	95579428	95579428	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10586446
single nucleotide variant	NM_177438.3(DICER1):c.1966C>T (p.Arg656Ter)	DICER1	Pathogenic	14	95579503	95579503	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA7331353
Duplication	NM_177438.3(DICER1):c.1910dup (p.Tyr637Ter)	DICER1	Pathogenic	14	95579558	95579559	G	GT	criteria provided, multiple submitters, no conflicts	ClinGen:CA10586447
Deletion	NM_177438.3(DICER1):c.1907+1del	DICER1	Pathogenic	14	95582003	95582003	AC	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10586448
Deletion	NM_177438.3(DICER1):c.1880_1883del (p.Ile627fs)	DICER1	Pathogenic	14	95582028	95582031	GTTGA	G	reviewed by expert panel	ClinGen:CA10586449
single nucleotide variant	NM_177438.3(DICER1):c.1870C>T (p.Arg624Ter)	DICER1	Pathogenic	14	95582041	95582041	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA7331382
Insertion	NM_177438.3(DICER1):c.1827_1828insAG (p.Val610fs)	DICER1	Pathogenic	14	95582083	95582084	C	CCT	criteria provided, multiple submitters, no conflicts	ClinGen:CA10586450
Deletion	NM_177438.3(DICER1):c.1787del (p.Thr596fs)	DICER1	Pathogenic	14	95582124	95582124	AG	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10586451