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
single nucleotide variant	NM_000455.5(STK11):c.527A>G (p.Asp176Gly)	STK11	Likely pathogenic	19	1220434	1220434	A	G	criteria provided, single submitter	ClinGen:CA16620748
single nucleotide variant	NM_000455.5(STK11):c.630C>A (p.Cys210Ter)	STK11	Pathogenic/Likely pathogenic	19	1220612	1220612	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16620750
Deletion	NM_000455.5(STK11):c.841_842del (p.Pro281fs)	STK11	Pathogenic	19	1221314	1221315	GCC	G	criteria provided, single submitter	ClinGen:CA10577598
Deletion	NM_000455.5(STK11):c.910del (p.Arg304fs)	STK11	Pathogenic	19	1221994	1221994	TC	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16620754
single nucleotide variant	NM_000455.5(STK11):c.904C>T (p.Gln302Ter)	STK11	Pathogenic	19	1221989	1221989	C	T	criteria provided, single submitter	ClinGen:CA402951286
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.106del (p.Tyr36fs)	STK11	Pathogenic	19	1207018	1207018	CT	C	criteria provided, single submitter	ClinGen:CA645369773
Deletion	NM_000455.5(STK11):c.151_162del (p.Met51_Leu54del)	STK11	Likely pathogenic	19	1207058	1207069	TACCTGATGGGGG	T	criteria provided, single submitter	ClinGen:CA645369774
Deletion	NM_000455.5(STK11):c.156_157del (p.Asp53fs)	STK11	Pathogenic	19	1207065	1207066	TGG	T	criteria provided, single submitter	ClinGen:CA645369777
single nucleotide variant	NM_000455.5(STK11):c.180C>A (p.Tyr60Ter)	STK11	Pathogenic	19	1207092	1207092	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA402944198