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	NC_000019.10:g.(?_1206904)_(1226657_?)del	STK11	Pathogenic	19	1206903	1226656	na	na	criteria provided, single submitter	-
Deletion	NC_000019.10:g.(?_1206908)_(1221346_?)del	STK11	Pathogenic	19	1206907	1221345	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	-
single nucleotide variant	NM_000455.5(STK11):c.291-1G>T	STK11	Pathogenic	19	1218415	1218415	G	T	criteria provided, single submitter	-
Deletion	NC_000019.9:g.(?_852323)_(1222011_?)del	STK11	Pathogenic	19	852323	1222011	na	na	criteria provided, single submitter	-
Deletion	NC_000019.9:g.(?_852323)_(1226652_?)del	STK11	Pathogenic	19	852323	1226652	na	na	criteria provided, single submitter	-
Duplication	NM_000455.5(STK11):c.82dup (p.Arg28fs)	STK11	Pathogenic	19	1206992	1206993	A	AC	criteria provided, single submitter	-
Duplication	NM_000455.5(STK11):c.781_788dup (p.Leu263fs)	STK11	Likely pathogenic	19	1221257	1221258	C	CTACAAGTT	criteria provided, single submitter	-
Deletion	NM_000455.5(STK11):c.197_225del (p.Val66fs)	STK11	Pathogenic	19	1207103	1207131	AAGGAGGTGCTGGACTCGGAGACGCTGTGC	A	criteria provided, single submitter	-
single nucleotide variant	NM_000455.5(STK11):c.498C>G (p.Tyr166Ter)	STK11	Pathogenic	19	1220405	1220405	C	G	criteria provided, single submitter	-