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
Duplication	NM_000314.8(PTEN):c.741dup (p.Pro248fs)	PTEN	Pathogenic	10	89717715	89717716	T	TA	criteria provided, multiple submitters, no conflicts	ClinGen:CA167900
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.737C>T (p.Pro246Leu)	PTEN	Pathogenic	10	89717712	89717712	C	T	reviewed by expert panel	ClinGen:CA000559,UniProtKB:P60484#VAR_008740
single nucleotide variant	NM_000314.8(PTEN):c.403A>G (p.Ile135Val)	PTEN	Pathogenic	10	89692919	89692919	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA000448,UniProtKB:P60484#VAR_008736
single nucleotide variant	NM_000314.8(PTEN):c.802-2A>T	PTEN	Pathogenic	10	89720649	89720649	A	T	reviewed by expert panel	ClinGen:CA000591
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.493G>T (p.Gly165Ter)	PTEN	Pathogenic	10	89711875	89711875	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA000480
single nucleotide variant	NM_000314.8(PTEN):c.822G>A (p.Trp274Ter)	PTEN	Pathogenic	10	89720671	89720671	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA000599
Duplication	NM_000314.8(PTEN):c.968dup (p.Asn323fs)	PTEN	Pathogenic	10	89720811	89720812	C	CA	criteria provided, multiple submitters, no conflicts	ClinGen:CA270877
single nucleotide variant	NM_000314.8(PTEN):c.634+2T>G	PTEN	Pathogenic	10	89712018	89712018	T	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA000537