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.549_550dup (p.Asn184fs)	PTEN	Pathogenic	10	89711929	89711930	A	AAG	criteria provided, single submitter	ClinGen:CA658656101
Deletion	NM_000314.8(PTEN):c.783_784del (p.Asn262fs)	PTEN	Pathogenic	10	89717757	89717758	CAG	C	criteria provided, single submitter	ClinGen:CA645554066
Duplication	NM_000314.8(PTEN):c.917dup (p.Glu307fs)	PTEN	Pathogenic	10	89720765	89720766	A	AT	criteria provided, single submitter	ClinGen:CA658656119
Deletion	NM_000314.8(PTEN):c.973del (p.Asp326fs)	PTEN	Pathogenic	10	89720822	89720822	TC	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA658656124
Insertion	NM_000314.8(PTEN):c.1127_1128insAT (p.His376fs)	PTEN	Likely pathogenic	10	89725144	89725145	A	AAT	criteria provided, single submitter	ClinGen:CA658657984
single nucleotide variant	NM_000314.8(PTEN):c.1A>G (p.Met1Val)	PTEN	Pathogenic	10	89624227	89624227	A	G	reviewed by expert panel	ClinGen:CA377781751
Duplication	NM_000314.8(PTEN):c.18dup (p.Glu7fs)	PTEN	Pathogenic	10	89624241	89624242	C	CA	criteria provided, single submitter	ClinGen:CA658657993
single nucleotide variant	NM_000314.8(PTEN):c.220A>T (p.Arg74Ter)	PTEN	Pathogenic	10	89690813	89690813	A	T	criteria provided, single submitter	ClinGen:CA377481273
single nucleotide variant	NM_000314.8(PTEN):c.1027-1G>C	PTEN	Pathogenic	10	89725043	89725043	G	C	criteria provided, single submitter	ClinGen:CA377487091
single nucleotide variant	NM_000314.8(PTEN):c.1034T>C (p.Leu345Pro)	PTEN	Pathogenic	10	89725051	89725051	T	C	reviewed by expert panel	ClinGen:CA377487108