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.923G>A (p.Trp308Ter)	STK11	Pathogenic/Likely pathogenic	19	1222986	1222986	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA402951422
Deletion	NM_000455.5(STK11):c.199del (p.Leu67fs)	STK11	Pathogenic/Likely pathogenic	19	1207111	1207111	GC	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA645509244
single nucleotide variant	NM_000455.5(STK11):c.920+1G>A	STK11	Pathogenic/Likely pathogenic	19	1222006	1222006	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA402951344
single nucleotide variant	NM_000455.5(STK11):c.543C>G (p.Asn181Lys)	STK11	Pathogenic/Likely pathogenic	19	1220450	1220450	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA402949111
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
single nucleotide variant	NM_000455.5(STK11):c.358G>T (p.Glu120Ter)	STK11	Pathogenic/Likely pathogenic	19	1218483	1218483	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16620744
single nucleotide variant	NM_000455.5(STK11):c.921-1G>C	STK11	Pathogenic/Likely pathogenic	19	1222983	1222983	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA16043068
single nucleotide variant	NM_000455.5(STK11):c.597+1G>T	STK11	Pathogenic/Likely pathogenic	19	1220505	1220505	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10588682
single nucleotide variant	NM_000455.5(STK11):c.542A>G (p.Asn181Ser)	STK11	Pathogenic/Likely pathogenic	19	1220449	1220449	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA10586687
Duplication	NM_000455.5(STK11):c.179dup (p.Tyr60Ter)	STK11	Pathogenic/Likely pathogenic	19	1207090	1207091	T	TA	criteria provided, multiple submitters, no conflicts	ClinGen:CA10577593