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
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
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
Duplication	NM_000455.5(STK11):c.179_180dup (p.Gly61fs)	STK11	Pathogenic	19	1207090	1207091	T	TAC	criteria provided, single submitter	ClinGen:CA658656742
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
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.169dup (p.Glu57fs)	STK11	Pathogenic/Likely pathogenic	19	1207076	1207077	T	TG	criteria provided, multiple submitters, no conflicts	ClinGen:CA022685
Deletion	NM_000455.5(STK11):c.151_162del (p.Met51_Leu54del)	STK11	Likely pathogenic	19	1207058	1207069	TACCTGATGGGGG	T	criteria provided, single submitter	ClinGen:CA645369774
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.157dup (p.Asp53fs)	STK11	Pathogenic	19	1207064	1207065	T	TG	criteria provided, multiple submitters, no conflicts	ClinGen:CA504706178
Deletion	NM_000455.5(STK11):c.134_145del (p.Leu45_Tyr49delinsHis)	STK11	Pathogenic	19	1207046	1207057	CTCATCGGCAAGT	C	criteria provided, single submitter	ClinGen:CA022653