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.580G>A (p.Asp194Asn)	STK11	Pathogenic/Likely pathogenic	19	1220487	1220487	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA023091,UniProtKB:Q15831#VAR_007921
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.200T>C (p.Leu67Pro)	STK11	Pathogenic/Likely pathogenic	19	1207112	1207112	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA022714,UniProtKB:Q15831#VAR_006202,OMIM:602216.0008
Deletion	NC_000019.10:g.(?_1219314)_(1222016_?)del	STK11	Pathogenic	19	1219313	1222015	na	na	criteria provided, single submitter	-
Deletion	NC_000019.10:g.(?_1206904)_(1219423_?)del	STK11	Pathogenic	19	1206903	1219422	na	na	criteria provided, single submitter	-
Deletion	NM_000455.5(STK11):c.920+1del	STK11	Pathogenic	19	1222005	1222005	AG	A	criteria provided, single submitter	-
Duplication	NM_000455.5(STK11):c.965dup (p.Pro324fs)	STK11	Pathogenic	19	1223027	1223028	A	AT	criteria provided, single submitter	-
Deletion	NM_000455.5(STK11):c.964del (p.Ile322fs)	STK11	Pathogenic	19	1223027	1223027	CA	C	criteria provided, single submitter	-
Duplication	NM_000455.5(STK11):c.762dup (p.Phe255fs)	STK11	Pathogenic	19	1221235	1221236	A	AC	criteria provided, single submitter	-
Duplication	NM_000455.5(STK11):c.755_758dup (p.Pro254fs)	STK11	Pathogenic	19	1221231	1221232	C	CTGTA	criteria provided, single submitter	-