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.752del (p.Gly251fs)	STK11	Pathogenic	19	1221227	1221227	CG	C	criteria provided, single submitter	ClinGen:CA645369778
single nucleotide variant	NM_000455.5(STK11):c.816C>G (p.Tyr272Ter)	STK11	Pathogenic	19	1221293	1221293	C	G	criteria provided, single submitter	ClinGen:CA402950616
Duplication	NM_000455.5(STK11):c.843dup (p.Leu282fs)	STK11	Pathogenic	19	1221319	1221320	C	CG	criteria provided, multiple submitters, no conflicts	ClinGen:CA645369779
single nucleotide variant	NM_000455.5(STK11):c.862+1G>T	STK11	Pathogenic	19	1221340	1221340	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA402950789
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	NM_000455.5(STK11):c.876del (p.Glu291_Tyr292insTer)	STK11	Pathogenic	19	1221961	1221961	AC	A	criteria provided, single submitter	ClinGen:CA645369739
Deletion	NM_000455.5(STK11):c.890_907del (p.Arg297_Gln302del)	STK11	Likely pathogenic	19	1221972	1221989	AAGAGGTTCTCCATCCGGC	A	criteria provided, single submitter	ClinGen:CA645369740
single nucleotide variant	NM_000455.5(STK11):c.911G>C (p.Arg304Pro)	STK11	Pathogenic	19	1221996	1221996	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA402951309
single nucleotide variant	NM_000455.5(STK11):c.913C>T (p.Gln305Ter)	STK11	Pathogenic	19	1221998	1221998	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA402951315
single nucleotide variant	NM_000455.5(STK11):c.920+1G>A	STK11	Pathogenic/Likely pathogenic	19	1222006	1222006	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA402951344