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.487G>C (p.Gly163Arg)	STK11	Likely pathogenic	19	1220394	1220394	G	C	criteria provided, single submitter	ClinGen:CA023047
single nucleotide variant	NM_000455.5(STK11):c.719C>G (p.Ser240Trp)	STK11	Likely pathogenic	19	1220701	1220701	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA023243
single nucleotide variant	NM_000455.5(STK11):c.582C>A (p.Asp194Glu)	STK11	Likely pathogenic	19	1220489	1220489	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA023096
single nucleotide variant	NM_000455.5(STK11):c.863-1G>A	STK11	Likely pathogenic	19	1221947	1221947	G	A	criteria provided, single submitter	ClinGen:CA336282
single nucleotide variant	NM_000455.5(STK11):c.923G>T (p.Trp308Leu)	STK11	Likely pathogenic	19	1222986	1222986	G	T	criteria provided, single submitter	ClinGen:CA349711
single nucleotide variant	NM_000455.5(STK11):c.541A>G (p.Asn181Asp)	STK11	Likely pathogenic	19	1220448	1220448	A	G	criteria provided, single submitter	ClinGen:CA10586375
single nucleotide variant	NM_000455.5(STK11):c.711C>G (p.Asp237Glu)	STK11	Likely pathogenic	19	1220693	1220693	C	G	criteria provided, single submitter	ClinGen:CA16608016
single nucleotide variant	NM_000455.5(STK11):c.527A>G (p.Asp176Gly)	STK11	Likely pathogenic	19	1220434	1220434	A	G	criteria provided, single submitter	ClinGen:CA16620748
Deletion	NM_000455.5(STK11):c.151_162del (p.Met51_Leu54del)	STK11	Likely pathogenic	19	1207058	1207069	TACCTGATGGGGG	T	criteria provided, single submitter	ClinGen:CA645369774
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