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.335T>C (p.Leu112Pro)	PTEN	Pathogenic	10	89692851	89692851	T	C	criteria provided, single submitter	ClinGen:CA000403,UniProtKB:P60484#VAR_007807,OMIM:601728.0020
single nucleotide variant	NM_000314.8(PTEN):c.1003C>T (p.Arg335Ter)	PTEN	Pathogenic	10	89720852	89720852	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA000245,OMIM:601728.0021
Duplication	NM_000314.8(PTEN):c.40dup (p.Arg14fs)	PTEN	Pathogenic	10	89624262	89624263	C	CA	reviewed by expert panel	ClinGen:CA254258,OMIM:601728.0022
single nucleotide variant	NM_000314.8(PTEN):c.633C>A (p.Cys211Ter)	PTEN	Pathogenic	10	89712015	89712015	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA000536,OMIM:601728.0024
Deletion	NM_000314.6(PTEN):c.802delG (p.Asp268Thrfs)	PTEN	Likely pathogenic	10	89720650	89720650	AG	A	reviewed by expert panel	ClinGen:CA000595,OMIM:601728.0027
single nucleotide variant	NM_000314.8(PTEN):c.181C>G (p.His61Asp)	PTEN	Likely pathogenic	10	89685286	89685286	C	G	reviewed by expert panel	ClinGen:CA000330,UniProtKB:P60484#VAR_018101,OMIM:601728.0030
Deletion	NM_000314.8(PTEN):c.507del (p.Ser170fs)	PTEN	Pathogenic	10	89711887	89711887	TC	T	reviewed by expert panel	ClinGen:CA000490,OMIM:601728.0032
single nucleotide variant	NM_000314.8(PTEN):c.278A>G (p.His93Arg)	PTEN	Pathogenic	10	89692794	89692794	A	G	reviewed by expert panel	ClinGen:CA000381,UniProtKB:P60484#VAR_032634,OMIM:601728.0037
single nucleotide variant	NM_000314.8(PTEN):c.755A>G (p.Asp252Gly)	PTEN	Likely pathogenic	10	89717730	89717730	A	G	reviewed by expert panel	ClinGen:CA000564,UniProtKB:P60484#VAR_032637,OMIM:601728.0038
single nucleotide variant	NM_000314.8(PTEN):c.722T>C (p.Phe241Ser)	PTEN	Likely pathogenic	10	89717697	89717697	T	C	reviewed by expert panel	ClinGen:CA000555,UniProtKB:P60484#VAR_032636,OMIM:601728.0039