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.1116_1119del (p.Glu373fs)	PTEN	Pathogenic/Likely pathogenic	10	89725131	89725134	CAATG	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA658657983
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
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
single nucleotide variant	NM_000314.8(PTEN):c.259C>T (p.Gln87Ter)	PTEN	Pathogenic/Likely pathogenic	10	89692775	89692775	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA377482046
Deletion	NM_000314.8(PTEN):c.39_40del (p.Arg14fs)	PTEN	Pathogenic/Likely pathogenic	10	89624263	89624264	CAA	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA658657994
single nucleotide variant	NM_000314.8(PTEN):c.635-1G>T	PTEN	Pathogenic/Likely pathogenic	10	89717609	89717609	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA377484747
Deletion	NM_000314.8(PTEN):c.309del (p.Cys105fs)	PTEN	Pathogenic/Likely pathogenic	10	89692823	89692823	AC	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA645509436
single nucleotide variant	NM_000314.8(PTEN):c.196A>T (p.Lys66Ter)	PTEN	Pathogenic/Likely pathogenic	10	89685301	89685301	A	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA377785047
Indel	NM_000314.8(PTEN):c.702_703delinsC (p.Glu235fs)	PTEN	Pathogenic/Likely pathogenic	10	89717677	89717678	GG	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA645369483
single nucleotide variant	NM_000314.8(PTEN):c.1026+2T>G	PTEN	Pathogenic/Likely pathogenic	10	89720877	89720877	T	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA377486192