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.842del (p.Pro281fs)	STK11	Pathogenic	19	1221314	1221314	GC	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA023307
Duplication	NM_000455.5(STK11):c.844dup (p.Leu282fs)	STK11	Pathogenic	19	1221320	1221321	G	GC	criteria provided, single submitter	ClinGen:CA274827
single nucleotide variant	NM_000455.5(STK11):c.719C>A (p.Ser240Ter)	STK11	Pathogenic	19	1220701	1220701	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA338699
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
Deletion	NM_000455.5(STK11):c.394del (p.Cys132fs)	STK11	Pathogenic	19	1219342	1219342	CT	C	criteria provided, single submitter	ClinGen:CA350035
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
Deletion	NM_000455.4(STK11):c.(?_-1)_920+?del	STK11	Pathogenic	19	1206912	1222005	na	na	criteria provided, single submitter	-
Duplication	NM_000455.5(STK11):c.179dup (p.Tyr60Ter)	STK11	Pathogenic/Likely pathogenic	19	1207090	1207091	T	TA	criteria provided, multiple submitters, no conflicts	ClinGen:CA10577593
single nucleotide variant	NM_000455.5(STK11):c.291-2A>G	STK11	Pathogenic	19	1218414	1218414	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA10580999
Deletion	NM_000455.4(STK11):c.-1115_*16+?del	STK11	Pathogenic	19	1205798	1226662	na	na	criteria provided, single submitter	-