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.367C>G (p.His123Asp)	PTEN	Pathogenic	10	89692883	89692883	C	G	reviewed by expert panel	ClinGen:CA377482278
Deletion	NM_000314.8(PTEN):c.376_377del (p.Ala126fs)	PTEN	Pathogenic	10	89692892	89692893	AGC	A	criteria provided, single submitter	ClinGen:CA645369480
single nucleotide variant	NM_000314.8(PTEN):c.377C>T (p.Ala126Val)	PTEN	Likely pathogenic	10	89692893	89692893	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA377482302
single nucleotide variant	NM_000314.8(PTEN):c.380G>A (p.Gly127Glu)	PTEN	Likely pathogenic	10	89692896	89692896	G	A	criteria provided, single submitter	ClinGen:CA377482305
single nucleotide variant	NM_000314.8(PTEN):c.384G>C (p.Lys128Asn)	PTEN	Likely pathogenic	10	89692900	89692900	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA377482313
single nucleotide variant	NM_000314.8(PTEN):c.402G>T (p.Met134Ile)	PTEN	Likely pathogenic	10	89692918	89692918	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA377482341
single nucleotide variant	NM_000314.8(PTEN):c.404T>A (p.Ile135Lys)	PTEN	Pathogenic/Likely pathogenic	10	89692920	89692920	T	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA377482344
Deletion	NM_000314.8(PTEN):c.432del (p.Lys144fs)	PTEN	Pathogenic	10	89692946	89692946	CA	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA645369481
Deletion	NM_000314.8(PTEN):c.437del (p.Phe145_Leu146insTer)	PTEN	Pathogenic	10	89692949	89692949	AT	A	criteria provided, single submitter	ClinGen:CA470661929
Indel	NM_000314.8(PTEN):c.441_442delinsA (p.Ala148fs)	PTEN	Likely pathogenic	10	89692957	89692958	GG	A	reviewed by expert panel	ClinGen:CA645369482