PTEN過誤腫症候群

腫瘍性疾患

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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.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
single nucleotide variant	NM_000314.8(PTEN):c.500C>A (p.Thr167Asn)	PTEN	Likely pathogenic	10	89711882	89711882	C	A	reviewed by expert panel	ClinGen:CA000487,UniProtKB:P60484#VAR_076763,OMIM:601728.0042
single nucleotide variant	NM_000314.8(PTEN):c.392C>T (p.Thr131Ile)	PTEN	Pathogenic	10	89692908	89692908	C	T	reviewed by expert panel	ClinGen:CA000442,UniProtKB:P60484#VAR_076762,OMIM:601728.0043
Duplication	NM_000314.8(PTEN):c.405dup (p.Cys136fs)	PTEN	Pathogenic	10	89692920	89692921	T	TA	criteria provided, multiple submitters, no conflicts	ClinGen:CA187022,OMIM:601728.0044
Deletion	NM_000314.8(PTEN):c.1026+1del	PTEN	Likely pathogenic	10	89720875	89720875	AG	A	criteria provided, single submitter	-
Deletion	NM_000314.8(PTEN):c.209+4_209+7del	PTEN	Pathogenic	10	89685315	89685318	TGTAA	T	reviewed by expert panel	ClinGen:CA220637
single nucleotide variant	NM_000314.8(PTEN):c.286C>T (p.Pro96Ser)	PTEN	Pathogenic	10	89692802	89692802	C	T	criteria provided, single submitter	ClinGen:CA000384
single nucleotide variant	NM_000314.8(PTEN):c.331T>C (p.Trp111Arg)	PTEN	Likely pathogenic	10	89692847	89692847	T	C	reviewed by expert panel	ClinGen:CA000401
single nucleotide variant	NM_000314.8(PTEN):c.395G>A (p.Gly132Asp)	PTEN	Pathogenic	10	89692911	89692911	G	A	reviewed by expert panel	ClinGen:CA000444
single nucleotide variant	NM_000314.8(PTEN):c.463T>A (p.Tyr155Asn)	PTEN	Likely pathogenic	10	89692979	89692979	T	A	criteria provided, single submitter	-