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.899del (p.Ile300fs)	STK11	Pathogenic	19	1221984	1221984	AT	A	criteria provided, single submitter	ClinGen:CA023335
Duplication	NM_000455.5(STK11):c.895_901dup (p.Arg301fs)	STK11	Pathogenic	19	1221978	1221979	T	TCTCCATC	criteria provided, single submitter	ClinGen:CA658799092
single nucleotide variant	NM_000455.5(STK11):c.891G>T (p.Arg297Ser)	STK11	Pathogenic	19	1221976	1221976	G	T	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
single nucleotide variant	NM_000455.5(STK11):c.877G>T (p.Glu293Ter)	STK11	Pathogenic	19	1221962	1221962	G	T	criteria provided, single submitter	ClinGen:CA023322
Deletion	NM_000455.5(STK11):c.876del (p.Glu291_Tyr292insTer)	STK11	Pathogenic	19	1221961	1221961	AC	A	criteria provided, single submitter	ClinGen:CA645369739
single nucleotide variant	NM_000455.5(STK11):c.863-1G>A	STK11	Likely pathogenic	19	1221947	1221947	G	A	criteria provided, single submitter	ClinGen:CA336282
single nucleotide variant	NM_000455.5(STK11):c.863-2A>G	STK11	Likely pathogenic	19	1221946	1221946	A	G	criteria provided, single submitter	ClinGen:CA402951135
Deletion	NC_000019.10:g.(?_1206908)_(1221346_?)del	STK11	Pathogenic	19	1206907	1221345	na	na	criteria provided, single submitter	-
Deletion	NC_000019.9:g.(?_1219317)_(1221345_?)del	STK11	Pathogenic	19	1219317	1221345	na	na	criteria provided, single submitter	-