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.920+1del	STK11	Pathogenic	19	1222005	1222005	AG	A	criteria provided, single submitter	-
Deletion	NC_000019.10:g.(?_1221949)_(1222006_?)del	STK11	Pathogenic	19	1221948	1222005	na	na	criteria provided, single submitter	-
Deletion	NM_000455.4(STK11):c.(?_-1)_920+?del	STK11	Pathogenic	19	1206912	1222005	na	na	criteria provided, single submitter	-
Indel	NM_000455.4(STK11):c.918_919delinsTCC (p.Ser307fs)	STK11	Pathogenic	19	1222003	1222004	CA	TCC	criteria provided, single submitter	ClinGen:CA658799093
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.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.910C>T (p.Arg304Trp)	STK11	Pathogenic	19	1221995	1221995	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA023348
Deletion	NM_000455.5(STK11):c.910del (p.Arg304fs)	STK11	Pathogenic	19	1221994	1221994	TC	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16620754
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.904C>T (p.Gln302Ter)	STK11	Pathogenic	19	1221989	1221989	C	T	criteria provided, single submitter	ClinGen:CA402951286