ポイツ・イェガース症候群

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_000455.5(STK11):c.67del (p.Asp23fs)	STK11	Pathogenic	19	1206978	1206978	TG	T	criteria provided, single submitter	ClinGen:CA658656738
Duplication	NM_000455.5(STK11):c.82dup (p.Arg28fs)	STK11	Pathogenic	19	1206992	1206993	A	AC	criteria provided, single submitter	-
Duplication	NM_000455.5(STK11):c.93dup (p.Thr32fs)	STK11	Pathogenic	19	1207003	1207004	T	TC	criteria provided, single submitter	ClinGen:CA645369772
Deletion	NM_000455.5(STK11):c.105_106del (p.Tyr36fs)	STK11	Pathogenic	19	1207016	1207017	ATC	A	criteria provided, single submitter	-
Deletion	NM_000455.5(STK11):c.106del (p.Tyr36fs)	STK11	Pathogenic	19	1207018	1207018	CT	C	criteria provided, single submitter	ClinGen:CA645369773
single nucleotide variant	NM_000455.5(STK11):c.108C>G (p.Tyr36Ter)	STK11	Pathogenic	19	1207020	1207020	C	G	criteria provided, single submitter	ClinGen:CA402943853
single nucleotide variant	NM_000455.5(STK11):c.109C>T (p.Gln37Ter)	STK11	Pathogenic	19	1207021	1207021	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16602777
Deletion	NM_000455.5(STK11):c.129del (p.Lys44fs)	STK11	Pathogenic	19	1207040	1207040	GC	G	criteria provided, single submitter	ClinGen:CA16616219
Deletion	NM_000455.5(STK11):c.134_145del (p.Leu45_Tyr49delinsHis)	STK11	Pathogenic	19	1207046	1207057	CTCATCGGCAAGT	C	criteria provided, single submitter	ClinGen:CA022653
Duplication	NM_000455.5(STK11):c.157dup (p.Asp53fs)	STK11	Pathogenic	19	1207064	1207065	T	TG	criteria provided, multiple submitters, no conflicts	ClinGen:CA504706178