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.605C>T (p.Thr202Ile)	PTEN	Pathogenic	10	89711987	89711987	C	T	criteria provided, single submitter	ClinGen:CA377484617
Deletion	NM_000314.8(PTEN):c.607_608del (p.Ile203fs)	PTEN	Pathogenic	10	89711988	89711989	CTA	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA645293880
Deletion	NM_000314.8(PTEN):c.617_621del (p.Phe206fs)	PTEN	Pathogenic	10	89711997	89712001	TGTTCA	T	criteria provided, single submitter	ClinGen:CA645293881
single nucleotide variant	NM_000314.8(PTEN):c.635-3C>G	PTEN	Likely pathogenic	10	89717607	89717607	C	G	reviewed by expert panel	ClinGen:CA645294060
single nucleotide variant	NM_000314.8(PTEN):c.635-1G>A	PTEN	Pathogenic	10	89717609	89717609	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA377484748
single nucleotide variant	NM_000314.8(PTEN):c.667A>T (p.Lys223Ter)	PTEN	Pathogenic	10	89717642	89717642	A	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA377484818
single nucleotide variant	NM_000314.8(PTEN):c.821G>T (p.Trp274Leu)	PTEN	Pathogenic	10	89720670	89720670	G	T	criteria provided, single submitter	ClinGen:CA377485492
single nucleotide variant	NM_000314.8(PTEN):c.1027-2A>G	PTEN	Pathogenic	10	89725042	89725042	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA377487088
Duplication	Single allele	PTEN	Pathogenic	10	89589557	89642550	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_000314.8(PTEN):c.165-1G>C	PTEN	Pathogenic	10	89685269	89685269	G	C	reviewed by expert panel	ClinGen:CA377784976