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.463T>C (p.Tyr155His)	PTEN	Pathogenic	10	89692979	89692979	T	C	criteria provided, single submitter	ClinGen:CA377482775
single nucleotide variant	NM_000314.8(PTEN):c.476G>T (p.Arg159Met)	PTEN	Likely pathogenic	10	89692992	89692992	G	T	criteria provided, single submitter	ClinGen:CA377482803
single nucleotide variant	NM_000314.8(PTEN):c.493G>A (p.Gly165Arg)	PTEN	Pathogenic	10	89711875	89711875	G	A	reviewed by expert panel	ClinGen:CA377484223
Deletion	NM_000314.8(PTEN):c.502del (p.Ile168fs)	PTEN	Pathogenic	10	89711884	89711884	TA	T	criteria provided, single submitter	ClinGen:CA645369420
Deletion	NM_000314.8(PTEN):c.512_515del (p.Gln171fs)	PTEN	Pathogenic	10	89711894	89711897	CAGAG	C	criteria provided, single submitter	ClinGen:CA645369421
Duplication	NM_000314.8(PTEN):c.512dup (p.Arg172fs)	PTEN	Pathogenic	10	89711893	89711894	C	CA	reviewed by expert panel	ClinGen:CA645369422
single nucleotide variant	NM_000314.8(PTEN):c.518G>T (p.Arg173Leu)	PTEN	Likely pathogenic	10	89711900	89711900	G	T	criteria provided, single submitter	ClinGen:CA377484303
single nucleotide variant	NM_000314.8(PTEN):c.545T>A (p.Leu182Ter)	PTEN	Pathogenic	10	89711927	89711927	T	A	criteria provided, single submitter	ClinGen:CA377484392
single nucleotide variant	NM_000314.8(PTEN):c.545T>G (p.Leu182Ter)	PTEN	Pathogenic	10	89711927	89711927	T	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA377484394
Deletion	NM_000314.8(PTEN):c.556_557del (p.Leu186fs)	PTEN	Pathogenic	10	89711937	89711938	ATC	A	criteria provided, single submitter	ClinGen:CA645369490