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.5104C>T (p.Gln1702Ter)	DICER1	Pathogenic	14	95560485	95560485	G	A	reviewed by expert panel	ClinGen:CA10586407
single nucleotide variant	NM_177438.3(DICER1):c.5095+1G>C	DICER1	Pathogenic	14	95562161	95562161	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA10586408
single nucleotide variant	NM_177438.3(DICER1):c.5053C>T (p.Gln1685Ter)	DICER1	Pathogenic	14	95562204	95562204	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10586409
Duplication	NM_177438.3(DICER1):c.4960_4961dup (p.Asp1654fs)	DICER1	Pathogenic	14	95562295	95562296	A	ATC	criteria provided, multiple submitters, no conflicts	ClinGen:CA10586410
Deletion	NM_177438.3(DICER1):c.4626del (p.Gln1542fs)	DICER1	Pathogenic	14	95562631	95562631	AC	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10586411
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