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.165-3_165del	PTEN	Pathogenic	10	89685267	89685270	TAAGG	T	criteria provided, single submitter	ClinGen:CA658656073
single nucleotide variant	NM_000314.8(PTEN):c.203A>C (p.Tyr68Ser)	PTEN	Likely pathogenic	10	89685308	89685308	A	C	criteria provided, single submitter	ClinGen:CA377785062
Insertion	NM_000314.8(PTEN):c.285_286insAA (p.Pro96fs)	PTEN	Pathogenic	10	89692800	89692801	C	CAA	criteria provided, single submitter	ClinGen:CA658656085
single nucleotide variant	NM_000314.8(PTEN):c.319G>T (p.Asp107Tyr)	PTEN	Pathogenic	10	89692835	89692835	G	T	reviewed by expert panel	ClinGen:CA377482178
single nucleotide variant	NM_000314.8(PTEN):c.497T>A (p.Val166Glu)	PTEN	Likely pathogenic	10	89711879	89711879	T	A	criteria provided, single submitter	ClinGen:CA377484236
single nucleotide variant	NM_000314.8(PTEN):c.522T>A (p.Tyr174Ter)	PTEN	Pathogenic	10	89711904	89711904	T	A	criteria provided, single submitter	ClinGen:CA377484314
Deletion	NM_000314.8(PTEN):c.646del (p.Val216fs)	PTEN	Pathogenic	10	89717621	89717621	TG	T	criteria provided, single submitter	ClinGen:CA658656107
Duplication	NM_000314.8(PTEN):c.301dup (p.Ile101fs)	PTEN	Pathogenic	10	89692816	89692817	T	TA	criteria provided, multiple submitters, no conflicts	ClinGen:CA645553802
single nucleotide variant	NM_000314.8(PTEN):c.333G>A (p.Trp111Ter)	PTEN	Pathogenic	10	89692849	89692849	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA377482210
Deletion	NM_000314.8(PTEN):c.548del (p.Lys183fs)	PTEN	Pathogenic	10	89711928	89711928	TA	T	criteria provided, single submitter	ClinGen:CA658656100