PTEN過誤腫症候群

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_000314.8(PTEN):c.131G>A (p.Gly44Asp)	PTEN	Pathogenic	10	89653833	89653833	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA377784538
single nucleotide variant	NM_000314.8(PTEN):c.164+1G>C	PTEN	Pathogenic	10	89653867	89653867	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA377784609
single nucleotide variant	NM_000314.8(PTEN):c.165-2A>G	PTEN	Pathogenic	10	89685268	89685268	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA377784973
single nucleotide variant	NM_000314.8(PTEN):c.253+1G>C	PTEN	Pathogenic	10	89690847	89690847	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA377481417
single nucleotide variant	NM_000314.8(PTEN):c.316G>T (p.Glu106Ter)	PTEN	Pathogenic	10	89692832	89692832	G	T	criteria provided, single submitter	ClinGen:CA377482170
single nucleotide variant	NM_000314.8(PTEN):c.369C>G (p.His123Gln)	PTEN	Pathogenic/Likely pathogenic	10	89692885	89692885	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA377482283
single nucleotide variant	NM_000314.8(PTEN):c.401T>C (p.Met134Thr)	PTEN	Pathogenic/Likely pathogenic	10	89692917	89692917	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA377482338
single nucleotide variant	NM_000314.8(PTEN):c.416T>G (p.Leu139Ter)	PTEN	Pathogenic	10	89692932	89692932	T	G	criteria provided, single submitter	ClinGen:CA377482370
Duplication	NM_000314.8(PTEN):c.420dup (p.His141fs)	PTEN	Pathogenic	10	89692935	89692936	T	TA	criteria provided, multiple submitters, no conflicts	ClinGen:CA645294062
Duplication	NM_000314.8(PTEN):c.520dup (p.Tyr174fs)	PTEN	Pathogenic	10	89711901	89711902	C	CT	criteria provided, multiple submitters, no conflicts	ClinGen:CA645293879