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.156_157del (p.Asp53fs)	STK11	Pathogenic	19	1207065	1207066	TGG	T	criteria provided, single submitter	ClinGen:CA645369777
Duplication	NM_000455.5(STK11):c.169dup (p.Glu57fs)	STK11	Pathogenic/Likely pathogenic	19	1207076	1207077	T	TG	criteria provided, multiple submitters, no conflicts	ClinGen:CA022685
single nucleotide variant	NM_000455.5(STK11):c.169G>T (p.Glu57Ter)	STK11	Pathogenic	19	1207081	1207081	G	T	criteria provided, single submitter	ClinGen:CA022691,OMIM:602216.0010
Duplication	NM_000455.5(STK11):c.179dup (p.Tyr60Ter)	STK11	Pathogenic/Likely pathogenic	19	1207090	1207091	T	TA	criteria provided, multiple submitters, no conflicts	ClinGen:CA10577593
Duplication	NM_000455.5(STK11):c.179_180dup (p.Gly61fs)	STK11	Pathogenic	19	1207090	1207091	T	TAC	criteria provided, single submitter	ClinGen:CA658656742
single nucleotide variant	NM_000455.5(STK11):c.180C>A (p.Tyr60Ter)	STK11	Pathogenic	19	1207092	1207092	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA402944198
single nucleotide variant	NM_000455.5(STK11):c.180C>G (p.Tyr60Ter)	STK11	Pathogenic	19	1207092	1207092	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA402944201
Deletion	NM_000455.5(STK11):c.180del (p.Ser59_Tyr60insTer)	STK11	Pathogenic	19	1207092	1207092	AC	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA504706283
Deletion	NM_000455.5(STK11):c.197_225del (p.Val66fs)	STK11	Pathogenic	19	1207103	1207131	AAGGAGGTGCTGGACTCGGAGACGCTGTGC	A	criteria provided, single submitter	-
Deletion	NM_000455.5(STK11):c.195_198del (p.Glu65fs)	STK11	Pathogenic	19	1207107	1207110	AGGTG	A	criteria provided, single submitter	ClinGen:CA645369766