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.935_936del (p.Lys312fs)	STK11	Pathogenic	19	1222997	1222998	GAA	G	criteria provided, single submitter	ClinGen:CA16616012
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
single nucleotide variant	NM_000455.5(STK11):c.923G>T (p.Trp308Leu)	STK11	Likely pathogenic	19	1222986	1222986	G	T	criteria provided, single submitter	ClinGen:CA349711
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.921-1G>T	STK11	Pathogenic	19	1222983	1222983	G	T	criteria provided, single submitter	ClinGen:CA023359
single nucleotide variant	NM_000455.5(STK11):c.921-2A>T	STK11	Pathogenic	19	1222982	1222982	A	T	criteria provided, single submitter	ClinGen:CA023361
Deletion	NC_000019.10:g.(?_1219314)_(1222016_?)del	STK11	Pathogenic	19	1219313	1222015	na	na	criteria provided, single submitter	-
Deletion	NC_000019.10:g.(?_1221939)_(1222016_?)del	STK11	Pathogenic	19	1221938	1222015	na	na	criteria provided, single submitter	-
Deletion	NC_000019.9:g.(?_852323)_(1222011_?)del	STK11	Pathogenic	19	852323	1222011	na	na	criteria provided, single submitter	-
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