ポイツ・イェガース症候群

腫瘍性疾患

表のタイトル行が青色の項目は、クリックすることでソートすることができます。

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.816del (p.Ser271_Tyr272insTer)	STK11	Pathogenic	19	1221293	1221293	AC	A	criteria provided, single submitter	ClinGen:CA658656758
Deletion	NM_000455.5(STK11):c.290+1_290+7del	STK11	Likely pathogenic	19	1207202	1207208	AAGTAAGT	A	criteria provided, single submitter	ClinGen:CA658656744
Duplication	NM_000455.5(STK11):c.525_532dup (p.Lys178fs)	STK11	Pathogenic	19	1220430	1220431	A	AAGGACATC	criteria provided, single submitter	ClinGen:CA658656745
Deletion	NC_000019.9:g.(?_1219317)_(1221345_?)del	STK11	Pathogenic	19	1219317	1221345	na	na	criteria provided, single submitter	-
Deletion	NM_000455.5(STK11):c.884_888del (p.Ala295fs)	STK11	Pathogenic	19	1221968	1221972	GGCCAA	G	criteria provided, single submitter	ClinGen:CA658656766
Duplication	NM_000455.5(STK11):c.179_180dup (p.Gly61fs)	STK11	Pathogenic	19	1207090	1207091	T	TAC	criteria provided, single submitter	ClinGen:CA658656742
Deletion	NM_000455.5(STK11):c.727del (p.Val243fs)	STK11	Pathogenic	19	1220706	1220706	TG	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA658653695
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.913C>T (p.Gln305Ter)	STK11	Pathogenic	19	1221998	1221998	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA402951315