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.209+1G>A	PTEN	Pathogenic	10	89685315	89685315	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16619047
Duplication	NM_000314.8(PTEN):c.209+2dup	PTEN	Likely pathogenic	10	89685315	89685316	G	GT	criteria provided, single submitter	ClinGen:CA16619048
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
Deletion	NM_000314.8(PTEN):c.875del (p.Asn292fs)	PTEN	Pathogenic	10	89720721	89720721	GA	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA16619062
Duplication	NM_000314.8(PTEN):c.884dup (p.Cys296fs)	PTEN	Pathogenic	10	89720732	89720733	C	CT	criteria provided, multiple submitters, no conflicts	ClinGen:CA16619063
Deletion	NM_000314.8(PTEN):c.899_903del (p.Ile300fs)	PTEN	Pathogenic	10	89720748	89720752	ATCGAT	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16619065
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
Indel	NM_000314.8(PTEN):c.271_272delinsTTT (p.Glu91fs)	PTEN	Pathogenic	10	89692787	89692788	GA	TTT	criteria provided, single submitter	ClinGen:CA645294061
Deletion	NM_000314.8(PTEN):c.947del (p.Leu316fs)	PTEN	Pathogenic	10	89720796	89720796	CT	C	criteria provided, single submitter	ClinGen:CA645294059
single nucleotide variant	NM_000314.8(PTEN):c.35A>C (p.Asn12Thr)	PTEN	Pathogenic	10	89624261	89624261	A	C	criteria provided, single submitter	ClinGen:CA377781897