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
single nucleotide variant	NM_000535.7(PMS2):c.353+2T>C	PMS2	Pathogenic/Likely pathogenic	7	6043319	6043319	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA049344
Deletion	NC_000007.14:g.(?_5991973)_(6002636_?)del	PMS2	Pathogenic	7	6031604	6042267	na	na	criteria provided, single submitter	-
Deletion	NC_000007.14:g.(?_6003690)_(6004058_?)del	PMS2	Pathogenic	7	6043321	6043689	na	na	criteria provided, single submitter	-
Deletion	NM_000535.7(PMS2):c.1864_1865del (p.Met622fs)	PMS2	Pathogenic	7	6026531	6026532	CAT	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA16612214
single nucleotide variant	NM_000535.7(PMS2):c.538-2A>G	PMS2	Pathogenic/Likely pathogenic	7	6038908	6038908	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA050225
single nucleotide variant	NM_000535.7(PMS2):c.1912C>T (p.Gln638Ter)	PMS2	Pathogenic	7	6026484	6026484	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16612252
single nucleotide variant	NM_000535.7(PMS2):c.1653C>A (p.Cys551Ter)	PMS2	Pathogenic	7	6026743	6026743	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16612257
Duplication	NM_000535.7(PMS2):c.859dup (p.Arg287fs)	PMS2	Pathogenic	7	6035208	6035209	C	CT	criteria provided, multiple submitters, no conflicts	ClinGen:CA16612270
Indel	NM_000535.7(PMS2):c.779_780delinsAG (p.Ser260Ter)	PMS2	Pathogenic	7	6036980	6036981	GG	CT	criteria provided, single submitter	ClinGen:CA16612273
Deletion	NM_000535.7(PMS2):c.129del (p.Glu44fs)	PMS2	Pathogenic	7	6045557	6045557	CT	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA16612290