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.1212A>G (p.Ter404Trp)	PTEN	Likely pathogenic	10	89725229	89725229	A	G	criteria provided, single submitter	ClinGen:CA377487507
single nucleotide variant	NM_000314.8(PTEN):c.1212A>T (p.Ter404Cys)	PTEN	Pathogenic	10	89725229	89725229	A	T	reviewed by expert panel	ClinGen:CA10578936
Insertion	NM_000314.8(PTEN):c.1127_1128insAT (p.His376fs)	PTEN	Likely pathogenic	10	89725144	89725145	A	AAT	criteria provided, single submitter	ClinGen:CA658657984
Deletion	NM_000314.8(PTEN):c.1116_1119del (p.Glu373fs)	PTEN	Pathogenic/Likely pathogenic	10	89725131	89725134	CAATG	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA658657983
Duplication	NM_000314.8(PTEN):c.1048dup (p.Thr350fs)	PTEN	Pathogenic	10	89725060	89725061	C	CA	criteria provided, single submitter	ClinGen:CA250392
single nucleotide variant	NM_000314.8(PTEN):c.1034T>C (p.Leu345Pro)	PTEN	Pathogenic	10	89725051	89725051	T	C	reviewed by expert panel	ClinGen:CA377487108
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.1027-1G>C	PTEN	Pathogenic	10	89725043	89725043	G	C	criteria provided, single submitter	ClinGen:CA377487091
single nucleotide variant	NM_000314.8(PTEN):c.1027-1G>A	PTEN	Pathogenic	10	89725043	89725043	G	A	reviewed by expert panel	ClinGen:CA16042723
single nucleotide variant	NM_000314.8(PTEN):c.1027-2A>C	PTEN	Pathogenic	10	89725042	89725042	A	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA377487087