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.46dup (p.Tyr16fs)	PTEN	Pathogenic	10	89624271	89624272	A	AT	criteria provided, multiple submitters, no conflicts	ClinGen:CA300537
single nucleotide variant	NM_000314.8(PTEN):c.49C>T (p.Gln17Ter)	PTEN	Pathogenic	10	89624275	89624275	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA000485
single nucleotide variant	NM_000314.8(PTEN):c.70G>T (p.Asp24Tyr)	PTEN	Pathogenic	10	89624296	89624296	G	T	criteria provided, single submitter	ClinGen:CA000552
single nucleotide variant	NM_000314.8(PTEN):c.77C>T (p.Thr26Ile)	PTEN	Pathogenic/Likely pathogenic	10	89624303	89624303	C	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000314.8(PTEN):c.80-1G>C	PTEN	Likely pathogenic	10	89653781	89653781	G	C	reviewed by expert panel	ClinGen:CA000586
Deletion	NM_000314.8(PTEN):c.85_88del (p.Tyr29fs)	PTEN	Pathogenic	10	89653787	89653790	TTATC	T	criteria provided, single submitter	ClinGen:CA000610
Deletion	NM_000314.8(PTEN):c.117del (p.Glu40fs)	PTEN	Pathogenic	10	89653819	89653819	CA	C	criteria provided, single submitter	ClinGen:CA000306
single nucleotide variant	NM_000314.8(PTEN):c.139A>G (p.Arg47Gly)	PTEN	Pathogenic	10	89653841	89653841	A	G	reviewed by expert panel	ClinGen:CA000322,UniProtKB:P60484#VAR_011587
single nucleotide variant	NM_000314.8(PTEN):c.202T>C (p.Tyr68His)	PTEN	Pathogenic/Likely pathogenic	10	89685307	89685307	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA000342,UniProtKB:P60484#VAR_007462
Duplication	NM_000314.8(PTEN):c.219_222dup (p.His75fs)	PTEN	Pathogenic	10	89690809	89690810	T	TGAAA	criteria provided, single submitter	ClinGen:CA300547