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.525del (p.Tyr176fs)	PTEN	Pathogenic	10	89711907	89711907	TG	T	criteria provided, single submitter	ClinGen:CA658656096
single nucleotide variant	NM_000314.8(PTEN):c.253+2T>A	PTEN	Pathogenic	10	89690848	89690848	T	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA377481420
single nucleotide variant	NM_000314.8(PTEN):c.274G>T (p.Asp92Tyr)	PTEN	Pathogenic/Likely pathogenic	10	89692790	89692790	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA377482083
Deletion	NM_000314.8(PTEN):c.693del (p.Thr232fs)	PTEN	Pathogenic	10	89717666	89717666	AC	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA658656108
Deletion	NM_000314.8(PTEN):c.991_992del (p.Asp331fs)	PTEN	Pathogenic	10	89720839	89720840	AAG	A	criteria provided, single submitter	ClinGen:CA658656125
Duplication	NM_000314.8(PTEN):c.1006dup (p.Tyr336fs)	PTEN	Pathogenic	10	89720854	89720855	A	AT	criteria provided, single submitter	ClinGen:CA658656126
Duplication	NM_000314.8(PTEN):c.315dup (p.Glu106Ter)	PTEN	Pathogenic	10	89692830	89692831	G	GT	criteria provided, single submitter	ClinGen:CA658656087
Deletion	NM_000314.8(PTEN):c.447del (p.Glu150fs)	PTEN	Pathogenic	10	89692962	89692962	CA	C	criteria provided, single submitter	ClinGen:CA470661967
single nucleotide variant	NM_000314.8(PTEN):c.493-2A>C	PTEN	Pathogenic/Likely pathogenic	10	89711873	89711873	A	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA377484214
Insertion	NM_000314.8(PTEN):c.928_929insTT (p.Asp310fs)	PTEN	Pathogenic	10	89720777	89720778	G	GTT	criteria provided, single submitter	ClinGen:CA658656121