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.402G>C (p.Met134Ile)	PTEN	Likely pathogenic	10	89692918	89692918	G	C	reviewed by expert panel	-
Deletion	NM_000314.8(PTEN):c.226del (p.Tyr76fs)	PTEN	Pathogenic/Likely pathogenic	10	89690818	89690818	AT	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000314.8(PTEN):c.764T>A (p.Val255Glu)	PTEN	Likely pathogenic	10	89717739	89717739	T	A	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_000314.8(PTEN):c.1023del (p.Phe341fs)	PTEN	Likely pathogenic	10	89720869	89720869	AT	A	criteria provided, single submitter	-
copy number loss	GRCh37/hg19 10q23.31(chr10:89653441-89654197)	PTEN	Pathogenic	10	89653441	89654197	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_000314.8(PTEN):c.654C>A (p.Cys218Ter)	PTEN	Pathogenic	10	89717629	89717629	C	A	criteria provided, single submitter	-
single nucleotide variant	NM_000314.8(PTEN):c.1026+1G>T	PTEN	Pathogenic	10	89720876	89720876	G	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000314.8(PTEN):c.16A>G (p.Lys6Glu)	PTEN	Pathogenic	10	89624242	89624242	A	G	reviewed by expert panel	-
Duplication	NM_000314.8(PTEN):c.69dup (p.Asp24fs)	PTEN	Pathogenic	10	89624294	89624295	T	TA	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000314.8(PTEN):c.170T>A (p.Leu57Ter)	PTEN	Pathogenic	10	89685275	89685275	T	A	criteria provided, single submitter	-