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_000535.7(PMS2):c.240del (p.Phe80fs)	PMS2	Pathogenic	7	6043613	6043613	CG	C	criteria provided, single submitter	ClinGen:CA658657656
Deletion	NM_000535.7(PMS2):c.1181del (p.Lys394fs)	PMS2	Pathogenic	7	6027215	6027215	CT	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA658655983
single nucleotide variant	NM_000535.7(PMS2):c.164-1G>A	PMS2	Likely pathogenic	7	6043690	6043690	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA044881
Insertion	NM_000535.7(PMS2):c.162_163insAATT (p.Asp55delinsAsnTer)	PMS2	Pathogenic	7	6045523	6045524	C	CAATT	criteria provided, multiple submitters, no conflicts	ClinGen:CA658657658
Indel	NM_000535.7(PMS2):c.922_933delinsA (p.Glu308fs)	PMS2	Pathogenic/Likely pathogenic	7	6031659	6031670	GTGGTAGACCTC	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA658655992
single nucleotide variant	NM_000535.7(PMS2):c.535A>T (p.Lys179Ter)	PMS2	Pathogenic	7	6042086	6042086	T	A	criteria provided, single submitter	ClinGen:CA366744151
single nucleotide variant	NM_000535.7(PMS2):c.383C>A (p.Ser128Ter)	PMS2	Pathogenic	7	6042238	6042238	G	T	criteria provided, single submitter	ClinGen:CA366744457
Duplication	NM_000179.3(MSH6):c.125_132dup (p.Gly45fs)	MSH6	Pathogenic/Likely pathogenic	2	48010496	48010497	C	CCTTCCCCA	criteria provided, multiple submitters, no conflicts	ClinGen:CA658657035
Deletion	NM_000179.3(MSH6):c.3757_3767del (p.Val1253fs)	MSH6	Likely pathogenic	2	48033449	48033459	CATTAGTAGAAG	C	criteria provided, single submitter	ClinGen:CA658655736
Deletion	NM_000249.4(MLH1):c.325del (p.His109fs)	MLH1	Pathogenic/Likely pathogenic	3	37045909	37045909	GC	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA658655767