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_000249.4(MLH1):c.1897G>T (p.Glu633Ter)	MLH1	Pathogenic	3	37090008	37090008	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16604897
single nucleotide variant	NM_000535.7(PMS2):c.2140C>T (p.Gln714Ter)	PMS2	Pathogenic	7	6022489	6022489	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16605116
single nucleotide variant	NM_000535.7(PMS2):c.1376C>G (p.Ser459Ter)	PMS2	Pathogenic	7	6027020	6027020	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA16605348
single nucleotide variant	NM_003242.6(TGFBR2):c.1381T>C (p.Cys461Arg)	TGFBR2	Pathogenic	3	30715723	30715723	T	C	criteria provided, single submitter	ClinGen:CA351809141
Deletion	NM_000251.3(MSH2):c.1738_1741del (p.Glu580fs)	MSH2	Pathogenic	2	47698177	47698180	TAAAG	T	criteria provided, single submitter	ClinGen:CA16609273
Duplication	NM_000179.3(MSH6):c.402dup (p.Asp135Ter)	MSH6	Pathogenic	2	48018201	48018202	G	GT	criteria provided, single submitter	ClinGen:CA16609276
Deletion	NC_000002.12:g.(?_47377014)_(47377077_?)del	EPCAM	Pathogenic	2	47604153	47604216	na	na	criteria provided, single submitter	-
Deletion	NC_000002.12:g.(?_47403067)_(47403402_?)del	MSH2	Pathogenic	2	47630206	47630541	na	na	criteria provided, single submitter	-
Deletion	NC_000002.12:g.(?_47790927)_(47791123_?)del	MSH6	Pathogenic	2	48018066	48018262	na	na	criteria provided, single submitter	-
Deletion	NC_000002.12:g.(?_47378953)_(47387028_?)del	EPCAM	Pathogenic	2	47606092	47614167	na	na	criteria provided, single submitter	-