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.4999G>T (p.Glu1667Ter)	DICER1	Pathogenic	14	95562258	95562258	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA390866134
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
single nucleotide variant	NM_177438.3(DICER1):c.5095+1G>A	DICER1	Likely pathogenic	14	95562161	95562161	C	T	criteria provided, multiple submitters, no conflicts	-
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.5096-12G>A	DICER1	Likely pathogenic	14	95560505	95560505	C	T	reviewed by expert panel	-
single nucleotide variant	NM_177438.3(DICER1):c.5103C>G (p.Tyr1701Ter)	DICER1	Pathogenic	14	95560486	95560486	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA390865441
single nucleotide variant	NM_177438.3(DICER1):c.5103C>A (p.Tyr1701Ter)	DICER1	Pathogenic/Likely pathogenic	14	95560486	95560486	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10576126
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.5123G>A (p.Gly1708Glu)	DICER1	Pathogenic/Likely pathogenic	14	95560466	95560466	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10586406
Duplication	NM_177438.3(DICER1):c.5194dup (p.Leu1732fs)	DICER1	Pathogenic	14	95560394	95560395	A	AG	criteria provided, multiple submitters, no conflicts	ClinGen:CA10586405