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
Deletion	NM_000455.5(STK11):c.195_198del (p.Glu65fs)	STK11	Pathogenic	19	1207107	1207110	AGGTG	A	criteria provided, single submitter	ClinGen:CA645369766
Duplication	NM_000455.5(STK11):c.209dup (p.Thr71fs)	STK11	Pathogenic	19	1207120	1207121	G	GA	criteria provided, single submitter	ClinGen:CA645369767
single nucleotide variant	NM_000455.5(STK11):c.290+1G>A	STK11	Pathogenic	19	1207203	1207203	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA402944662
Duplication	NM_000455.5(STK11):c.363_367dup (p.Gln123fs)	STK11	Pathogenic	19	1218487	1218488	A	AGAAGC	criteria provided, single submitter	ClinGen:CA645369768
single nucleotide variant	NM_000455.5(STK11):c.367C>T (p.Gln123Ter)	STK11	Pathogenic	19	1218492	1218492	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA402947913
Duplication	NM_000455.5(STK11):c.373dup (p.Met125fs)	STK11	Pathogenic	19	1218494	1218495	G	GA	criteria provided, single submitter	ClinGen:CA645369769
single nucleotide variant	NM_000455.5(STK11):c.374+1A>G	STK11	Pathogenic	19	1218500	1218500	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA402947962
Deletion	NM_000455.5(STK11):c.446del (p.Pro149fs)	STK11	Pathogenic	19	1219392	1219392	TC	T	criteria provided, single submitter	ClinGen:CA645369738
single nucleotide variant	NM_000455.5(STK11):c.465-2A>C	STK11	Likely pathogenic	19	1220370	1220370	A	C	criteria provided, single submitter	ClinGen:CA402948756