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.964A>T (p.Lys322Ter)	PTEN	Likely pathogenic	10	89720813	89720813	A	T	reviewed by expert panel	ClinGen:CA000235
single nucleotide variant	NM_000314.8(PTEN):c.170T>G (p.Leu57Trp)	PTEN	Likely pathogenic	10	89685275	89685275	T	G	reviewed by expert panel	ClinGen:CA000131,UniProtKB:P60484#VAR_007460
single nucleotide variant	NM_000314.8(PTEN):c.165-1G>A	PTEN	Likely pathogenic	10	89685269	89685269	G	A	reviewed by expert panel	ClinGen:CA000129
single nucleotide variant	NM_000314.8(PTEN):c.598T>G (p.Phe200Val)	PTEN	Likely pathogenic	10	89711980	89711980	T	G	criteria provided, single submitter	ClinGen:CA000531
single nucleotide variant	NM_000314.8(PTEN):c.314G>A (p.Cys105Tyr)	PTEN	Likely pathogenic	10	89692830	89692830	G	A	reviewed by expert panel	ClinGen:CA000393,UniProtKB:P60484#VAR_008735
single nucleotide variant	NM_000314.8(PTEN):c.520T>A (p.Tyr174Asn)	PTEN	Likely pathogenic	10	89711902	89711902	T	A	reviewed by expert panel	ClinGen:CA000501,UniProtKB:P60484#VAR_026270
single nucleotide variant	NM_000314.8(PTEN):c.379G>A (p.Gly127Arg)	PTEN	Likely pathogenic	10	89692895	89692895	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA000426
single nucleotide variant	NM_000314.8(PTEN):c.463T>A (p.Tyr155Asn)	PTEN	Likely pathogenic	10	89692979	89692979	T	A	criteria provided, single submitter	-
single nucleotide variant	NM_000314.8(PTEN):c.331T>C (p.Trp111Arg)	PTEN	Likely pathogenic	10	89692847	89692847	T	C	reviewed by expert panel	ClinGen:CA000401
Deletion	NM_000314.8(PTEN):c.1026+1del	PTEN	Likely pathogenic	10	89720875	89720875	AG	A	criteria provided, single submitter	-