リンチ症候群 - MGenReviews

リンチ症候群

腫瘍性疾患

表のタイトル行が青色の項目は、クリックすることでソートすることができます。

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_000251.3(MSH2):c.686_687del (p.Lys229fs)	MSH2	Pathogenic	2	47639588	47639589	GAA	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA021960
Deletion	NM_000251.3(MSH2):c.932del (p.Asn311fs)	MSH2	Pathogenic	2	47641546	47641546	TA	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA022556
single nucleotide variant	NM_000535.7(PMS2):c.2T>C (p.Met1Thr)	PMS2	Pathogenic/Likely pathogenic	7	6048649	6048649	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA011813
single nucleotide variant	NM_000535.7(PMS2):c.823C>T (p.Gln275Ter)	PMS2	Pathogenic	7	6035245	6035245	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA012937
single nucleotide variant	NM_000535.7(PMS2):c.989-1G>T	PMS2	Pathogenic	7	6029587	6029587	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA013429
single nucleotide variant	NM_000179.3(MSH6):c.1367G>A (p.Trp456Ter)	MSH6	Pathogenic	2	48026489	48026489	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA008538
single nucleotide variant	NM_000535.7(PMS2):c.1687C>T (p.Arg563Ter)	PMS2	Pathogenic	7	6026709	6026709	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA010032
Deletion	NM_000249.4(MLH1):c.2190del (p.Pro731fs)	MLH1	Pathogenic	3	37092063	37092063	CT	C	criteria provided, single submitter	ClinGen:CA009067
single nucleotide variant	NM_000535.7(PMS2):c.1376C>A (p.Ser459Ter)	PMS2	Pathogenic	7	6027020	6027020	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA009578
single nucleotide variant	NM_000535.7(PMS2):c.2095G>C (p.Asp699His)	PMS2	Pathogenic/Likely pathogenic	7	6022534	6022534	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA010800