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
Deletion	NM_000314.8(PTEN):c.1116_1119del (p.Glu373fs)	PTEN	Pathogenic/Likely pathogenic	10	89725131	89725134	CAATG	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA658657983
single nucleotide variant	NM_000314.8(PTEN):c.127G>T (p.Glu43Ter)	PTEN	Pathogenic	10	89653829	89653829	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA377784529
Deletion	NM_000314.8(PTEN):c.370del (p.Cys124fs)	PTEN	Pathogenic	10	89692886	89692886	CT	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA470661800
single nucleotide variant	NM_000314.8(PTEN):c.493-2A>T	PTEN	Likely pathogenic	10	89711873	89711873	A	T	criteria provided, single submitter	ClinGen:CA377484216
Insertion	NM_000314.8(PTEN):c.634+2_634+3insC	PTEN	Likely pathogenic	10	89712018	89712019	T	TC	criteria provided, single submitter	ClinGen:CA658656105
single nucleotide variant	NM_000314.8(PTEN):c.1008C>G (p.Tyr336Ter)	PTEN	Pathogenic	10	89720857	89720857	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA377486136
single nucleotide variant	NM_000314.8(PTEN):c.940G>T (p.Glu314Ter)	PTEN	Pathogenic	10	89720789	89720789	G	T	criteria provided, single submitter	ClinGen:CA377485931
Deletion	NM_000314.8(PTEN):c.306del (p.Lys102fs)	PTEN	Pathogenic	10	89692820	89692820	CA	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA658683585
Deletion	NM_000314.8(PTEN):c.469del (p.Glu157fs)	PTEN	Pathogenic	10	89692982	89692982	TG	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA645553864
Duplication	NM_000314.8(PTEN):c.741_742dup (p.Pro248fs)	PTEN	Pathogenic	10	89717715	89717716	T	TAC	criteria provided, single submitter	ClinGen:CA658683584