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
Deletion	NM_000314.8(PTEN):c.758_761del (p.Ile253fs)	PTEN	Pathogenic	10	89717732	89717735	TATCA	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA000565
Deletion	NM_000314.8(PTEN):c.771_772del (p.Phe258fs)	PTEN	Pathogenic	10	89717745	89717746	TTC	T	criteria provided, single submitter	ClinGen:CA000571
single nucleotide variant	NM_000314.8(PTEN):c.801+1G>A	PTEN	Pathogenic	10	89717777	89717777	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA000584
single nucleotide variant	NM_000314.8(PTEN):c.802-2A>G	PTEN	Pathogenic	10	89720649	89720649	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA000590
single nucleotide variant	NM_000314.8(PTEN):c.821G>A (p.Trp274Ter)	PTEN	Pathogenic	10	89720670	89720670	G	A	criteria provided, single submitter	-
Duplication	NM_000314.8(PTEN):c.875dup (p.Asn292fs)	PTEN	Pathogenic	10	89720720	89720721	G	GA	criteria provided, multiple submitters, no conflicts	ClinGen:CA300548
Deletion	NM_000314.8(PTEN):c.892del (p.Gln298fs)	PTEN	Pathogenic	10	89720741	89720741	TC	T	criteria provided, single submitter	ClinGen:CA000624
single nucleotide variant	NM_000314.8(PTEN):c.919G>T (p.Glu307Ter)	PTEN	Pathogenic	10	89720768	89720768	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA000633
Insertion	NM_000314.8(PTEN):c.928_929insGTGCA (p.Asp310fs)	PTEN	Pathogenic	10	89720777	89720778	G	GGTGCA	criteria provided, single submitter	ClinGen:CA000639
Duplication	NM_000314.8(PTEN):c.955dup (p.Thr319fs)	PTEN	Pathogenic	10	89720803	89720804	T	TA	criteria provided, multiple submitters, no conflicts	ClinGen:CA300542