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.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.996dup (p.Ala333fs)	PTEN	Pathogenic	10	89720842	89720843	C	CA	criteria provided, single submitter	ClinGen:CA645554132
Duplication	NM_000314.8(PTEN):c.993_994dup (p.Lys332fs)	PTEN	Pathogenic	10	89720840	89720841	G	GAC	criteria provided, single submitter	ClinGen:CA645369479
Deletion	NM_000314.8(PTEN):c.991_992del (p.Asp331fs)	PTEN	Pathogenic	10	89720839	89720840	AAG	A	criteria provided, single submitter	ClinGen:CA658656125
Deletion	NM_000314.8(PTEN):c.987_990del (p.Asn329fs)	PTEN	Pathogenic	10	89720833	89720836	CAAAT	C	reviewed by expert panel	ClinGen:CA000656
Duplication	NM_000314.8(PTEN):c.987_996dup (p.Ala333Ter)	PTEN	Pathogenic	10	89720831	89720832	G	GCAAATAAAGA	criteria provided, single submitter	ClinGen:CA350854
Indel	NM_000314.8(PTEN):c.975_988delinsCGCTT (p.Asp326_Lys330delinsAlaTer)	PTEN	Pathogenic/Likely pathogenic	10	89720824	89720837	TGACAAAGCAAATA	CGCTT	criteria provided, multiple submitters, no conflicts	ClinGen:CA645369478
Deletion	NM_000314.8(PTEN):c.973del (p.Asp326fs)	PTEN	Pathogenic	10	89720822	89720822	TC	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA658656124
single nucleotide variant	NM_000314.8(PTEN):c.964A>T (p.Lys322Ter)	PTEN	Likely pathogenic	10	89720813	89720813	A	T	reviewed by expert panel	ClinGen:CA000235
Deletion	NM_000314.8(PTEN):c.968del (p.Asn323fs)	PTEN	Pathogenic	10	89720812	89720812	CA	C	criteria provided, multiple submitters, no conflicts	-