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.790_793del (p.Phe264fs)	STK11	Pathogenic	19	1221264	1221267	GTTGT	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA16043168
Duplication	NM_000455.5(STK11):c.781_788dup (p.Leu263fs)	STK11	Likely pathogenic	19	1221257	1221258	C	CTACAAGTT	criteria provided, single submitter	-
single nucleotide variant	NM_000455.5(STK11):c.766G>T (p.Glu256Ter)	STK11	Pathogenic	19	1221243	1221243	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16608830
Duplication	NM_000455.5(STK11):c.762dup (p.Phe255fs)	STK11	Pathogenic	19	1221235	1221236	A	AC	criteria provided, single submitter	-
Duplication	NM_000455.5(STK11):c.755_758dup (p.Pro254fs)	STK11	Pathogenic	19	1221231	1221232	C	CTGTA	criteria provided, single submitter	-
Deletion	NM_000455.5(STK11):c.752del (p.Gly251fs)	STK11	Pathogenic	19	1221227	1221227	CG	C	criteria provided, single submitter	ClinGen:CA645369778
single nucleotide variant	NM_000455.5(STK11):c.738C>G (p.Tyr246Ter)	STK11	Pathogenic	19	1221215	1221215	C	G	criteria provided, single submitter	ClinGen:CA023261,OMIM:602216.0023
single nucleotide variant	NM_000455.5(STK11):c.735-1G>A	STK11	Pathogenic	19	1221211	1221211	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16043164
single nucleotide variant	NM_000455.5(STK11):c.734+2T>C	STK11	Likely pathogenic	19	1220718	1220718	T	C	criteria provided, single submitter	ClinGen:CA402950022
single nucleotide variant	NM_000455.5(STK11):c.734+1G>C	STK11	Pathogenic	19	1220717	1220717	G	C	criteria provided, single submitter	ClinGen:CA402950015