ポイツ・イェガース症候群

腫瘍性疾患

表のタイトル行が青色の項目は、クリックすることでソートすることができます。

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.862+1G>T	STK11	Pathogenic	19	1221340	1221340	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA402950789
Deletion	NM_000455.5(STK11):c.851del (p.Asp284fs)	STK11	Likely pathogenic	19	1221328	1221328	GA	G	criteria provided, single submitter	ClinGen:CA658684212
Duplication	NM_000455.5(STK11):c.844dup (p.Leu282fs)	STK11	Pathogenic	19	1221320	1221321	G	GC	criteria provided, single submitter	ClinGen:CA274827
Duplication	NM_000455.5(STK11):c.843dup (p.Leu282fs)	STK11	Pathogenic	19	1221319	1221320	C	CG	criteria provided, multiple submitters, no conflicts	ClinGen:CA645369779
Deletion	NM_000455.5(STK11):c.841_842del (p.Pro281fs)	STK11	Pathogenic	19	1221314	1221315	GCC	G	criteria provided, single submitter	ClinGen:CA10577598
Duplication	NM_000455.5(STK11):c.842dup (p.Leu282fs)	STK11	Pathogenic	19	1221313	1221314	G	GC	criteria provided, multiple submitters, no conflicts	ClinGen:CA16616021
Deletion	NM_000455.5(STK11):c.842del (p.Pro281fs)	STK11	Pathogenic	19	1221314	1221314	GC	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA023307
Indel	NM_000455.4(STK11):c.821delinsAC (p.Ile274fs)	STK11	Pathogenic	19	1221298	1221298	T	AC	criteria provided, single submitter	ClinGen:CA658799090
Deletion	NM_000455.5(STK11):c.816del (p.Ser271_Tyr272insTer)	STK11	Pathogenic	19	1221293	1221293	AC	A	criteria provided, single submitter	ClinGen:CA658656758
single nucleotide variant	NM_000455.5(STK11):c.816C>G (p.Tyr272Ter)	STK11	Pathogenic	19	1221293	1221293	C	G	criteria provided, single submitter	ClinGen:CA402950616