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.508C>T (p.Gln170Ter)	STK11	Pathogenic	19	1220415	1220415	C	T	criteria provided, single submitter	ClinGen:CA023056,OMIM:602216.0018
Deletion	NM_000455.5(STK11):c.650del (p.Pro217fs)	STK11	Pathogenic	19	1220629	1220629	TC	T	criteria provided, single submitter	ClinGen:CA023202,OMIM:602216.0016
single nucleotide variant	NM_000455.5(STK11):c.580G>T (p.Asp194Tyr)	STK11	Pathogenic	19	1220487	1220487	G	T	criteria provided, single submitter	ClinGen:CA023094,UniProtKB:Q15831#VAR_033141,OMIM:602216.0013
Deletion	NM_000455.5(STK11):c.418del (p.Leu140fs)	STK11	Pathogenic	19	1219366	1219366	GC	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA022918,OMIM:602216.0012
single nucleotide variant	NM_000455.5(STK11):c.488G>A (p.Gly163Asp)	STK11	Pathogenic	19	1220395	1220395	G	A	criteria provided, single submitter	ClinGen:CA023051,UniProtKB:Q15831#VAR_033140,OMIM:602216.0011
single nucleotide variant	NM_000455.5(STK11):c.169G>T (p.Glu57Ter)	STK11	Pathogenic	19	1207081	1207081	G	T	criteria provided, single submitter	ClinGen:CA022691,OMIM:602216.0010
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
single nucleotide variant	NM_000455.5(STK11):c.250A>T (p.Lys84Ter)	STK11	Pathogenic	19	1207162	1207162	A	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA022756,OMIM:602216.0006