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
Duplication	NM_000314.8(PTEN):c.942_949dup (p.Val317delinsAspIleTer)	PTEN	Pathogenic	10	89720790	89720791	A	AATATCTAG	criteria provided, single submitter	ClinGen:CA645369472
single nucleotide variant	NM_000314.8(PTEN):c.959T>G (p.Leu320Ter)	PTEN	Pathogenic	10	89720808	89720808	T	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA377485997
Deletion	NM_000314.8(PTEN):c.959del (p.Thr319_Leu320insTer)	PTEN	Pathogenic	10	89720806	89720806	CT	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA645369476
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
Duplication	NM_000314.8(PTEN):c.993_994dup (p.Lys332fs)	PTEN	Pathogenic	10	89720840	89720841	G	GAC	criteria provided, single submitter	ClinGen:CA645369479
single nucleotide variant	NM_000314.8(PTEN):c.1026+2T>G	PTEN	Pathogenic/Likely pathogenic	10	89720877	89720877	T	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA377486192
Indel	NM_000314.8(PTEN):c.702_703delinsC (p.Glu235fs)	PTEN	Pathogenic/Likely pathogenic	10	89717677	89717678	GG	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA645369483
single nucleotide variant	NM_000314.8(PTEN):c.401T>G (p.Met134Arg)	PTEN	Likely pathogenic	10	89692917	89692917	T	G	criteria provided, single submitter	ClinGen:CA377482337
single nucleotide variant	NM_000314.8(PTEN):c.479C>T (p.Thr160Ile)	PTEN	Likely pathogenic	10	89692995	89692995	C	T	criteria provided, single submitter	ClinGen:CA377482809
single nucleotide variant	NM_000314.8(PTEN):c.487A>T (p.Lys163Ter)	PTEN	Likely pathogenic	10	89693003	89693003	A	T	criteria provided, single submitter	ClinGen:CA377482826