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.77C>T (p.Thr26Ile)	PTEN	Pathogenic/Likely pathogenic	10	89624303	89624303	C	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000314.8(PTEN):c.518G>C (p.Arg173Pro)	PTEN	Pathogenic/Likely pathogenic	10	89711900	89711900	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA000169,UniProtKB:P60484#VAR_026269
single nucleotide variant	NM_000314.8(PTEN):c.475A>G (p.Arg159Gly)	PTEN	Pathogenic/Likely pathogenic	10	89692991	89692991	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA000161
single nucleotide variant	NM_000314.8(PTEN):c.370T>G (p.Cys124Gly)	PTEN	Pathogenic/Likely pathogenic	10	89692886	89692886	T	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA000149
Indel	NM_000314.8(PTEN):c.105_106delinsAC (p.Met35_Gly36delinsIleArg)	PTEN	Pathogenic/Likely pathogenic	10	89653807	89653808	GG	AC	criteria provided, multiple submitters, no conflicts	ClinGen:CA000107
single nucleotide variant	NM_000314.8(PTEN):c.70G>A (p.Asp24Asn)	PTEN	Pathogenic/Likely pathogenic	10	89624296	89624296	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA000185
single nucleotide variant	NM_000314.8(PTEN):c.395G>T (p.Gly132Val)	PTEN	Pathogenic/Likely pathogenic	10	89692911	89692911	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA000446,UniProtKB:P60484#VAR_032635,OMIM:601728.0041
Deletion	NM_000314.8(PTEN):c.723del (p.Phe241fs)	PTEN	Pathogenic	10	89717696	89717696	CT	C	criteria provided, multiple submitters, no conflicts	-
Deletion	NC_000010.11:g.(?_87931036)_(87931099_?)del	PTEN	Pathogenic	10	89690793	89690856	na	na	criteria provided, single submitter	-
Deletion	NC_000010.11:g.(?_87894015)_(87965482_?)del	PTEN	Pathogenic	10	89653772	89725239	na	na	criteria provided, single submitter	-