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
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
single nucleotide variant	NM_000314.8(PTEN):c.404T>A (p.Ile135Lys)	PTEN	Pathogenic/Likely pathogenic	10	89692920	89692920	T	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA377482344
single nucleotide variant	NM_000314.8(PTEN):c.45A>C (p.Arg15Ser)	PTEN	Pathogenic/Likely pathogenic	10	89624271	89624271	A	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA377781935
single nucleotide variant	NM_000314.8(PTEN):c.401T>C (p.Met134Thr)	PTEN	Pathogenic/Likely pathogenic	10	89692917	89692917	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA377482338
single nucleotide variant	NM_000314.8(PTEN):c.369C>G (p.His123Gln)	PTEN	Pathogenic/Likely pathogenic	10	89692885	89692885	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA377482283
Deletion	NM_000314.8(PTEN):c.1029_1039del (p.Lys344fs)	PTEN	Pathogenic/Likely pathogenic	10	89725045	89725055	GTGAAGCTGTAC	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA16619070
single nucleotide variant	NM_000314.8(PTEN):c.323T>C (p.Leu108Pro)	PTEN	Pathogenic/Likely pathogenic	10	89692839	89692839	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA16619052
single nucleotide variant	NM_000314.8(PTEN):c.45A>T (p.Arg15Ser)	PTEN	Pathogenic/Likely pathogenic	10	89624271	89624271	A	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16619041
single nucleotide variant	NM_000314.8(PTEN):c.430A>T (p.Lys144Ter)	PTEN	Pathogenic/Likely pathogenic	10	89692946	89692946	A	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16606102
single nucleotide variant	NM_000314.8(PTEN):c.254-1G>A	PTEN	Pathogenic/Likely pathogenic	10	89692769	89692769	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16603356