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.134_145del (p.Leu45_Tyr49delinsHis)	STK11	Pathogenic	19	1207046	1207057	CTCATCGGCAAGT	C	criteria provided, single submitter	ClinGen:CA022653
Duplication	NM_000455.5(STK11):c.988dup (p.Asp330fs)	STK11	Pathogenic	19	1223049	1223050	A	AG	criteria provided, single submitter	ClinGen:CA273378
single nucleotide variant	NM_000455.5(STK11):c.921-2A>T	STK11	Pathogenic	19	1222982	1222982	A	T	criteria provided, single submitter	ClinGen:CA023361
single nucleotide variant	NM_000455.5(STK11):c.734+1G>T	STK11	Pathogenic	19	1220717	1220717	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA023257
Deletion	NM_000455.5(STK11):c.574del (p.Ile192fs)	STK11	Pathogenic	19	1220478	1220478	CA	C	criteria provided, single submitter	ClinGen:CA023084
single nucleotide variant	NM_000455.5(STK11):c.921-1G>T	STK11	Pathogenic	19	1222983	1222983	G	T	criteria provided, single submitter	ClinGen:CA023359
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
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.738C>G (p.Tyr246Ter)	STK11	Pathogenic	19	1221215	1221215	C	G	criteria provided, single submitter	ClinGen:CA023261,OMIM:602216.0023
single nucleotide variant	NM_000455.5(STK11):c.717G>C (p.Trp239Cys)	STK11	Pathogenic	19	1220699	1220699	G	C	criteria provided, single submitter	ClinGen:CA023239,UniProtKB:Q15831#VAR_033142,OMIM:602216.0021