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.1839del (p.Tyr614fs)	DICER1	Pathogenic	14	95582072	95582072	AT	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA645369629
single nucleotide variant	NM_177438.3(DICER1):c.1847T>A (p.Leu616Ter)	DICER1	Pathogenic	14	95582064	95582064	A	T	criteria provided, single submitter	-
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
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.1907+1G>A	DICER1	Pathogenic	14	95582003	95582003	C	T	reviewed by expert panel	ClinGen:CA390883876
Deletion	NM_177438.3(DICER1):c.1907+1del	DICER1	Pathogenic	14	95582003	95582003	AC	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10586448
Duplication	NM_177438.3(DICER1):c.1910dup (p.Tyr637Ter)	DICER1	Pathogenic	14	95579558	95579559	G	GT	criteria provided, multiple submitters, no conflicts	ClinGen:CA10586447
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
single nucleotide variant	NM_177438.3(DICER1):c.2018C>G (p.Ser673Ter)	DICER1	Pathogenic	14	95579451	95579451	G	C	criteria provided, single submitter	-
single nucleotide variant	NM_177438.3(DICER1):c.2040+1G>A	DICER1	Pathogenic	14	95579428	95579428	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA390883156