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_000251.2(MSH2):c.2006-?_2210+?del	MSH2	Pathogenic	2	47703506	47703710	na	na	criteria provided, single submitter	-
Deletion	NC_000002.12:g.(?_47369148)_(47387028_?)del	EPCAM	Pathogenic	2	47596287	47614167	na	na	criteria provided, single submitter	-
Deletion	NC_000002.12:g.(?_47403067)_(47408555_?)del	MSH2	Pathogenic	2	47630206	47635694	na	na	criteria provided, single submitter	-
Deletion	NC_000002.12:g.(?_47403067)_(47483228_?)del	MSH2	Pathogenic	2	47630206	47710367	na	na	criteria provided, single submitter	-
Deletion	NM_000251.2(MSH2):c.212-?_366+?del	MSH2	Pathogenic	2	47635540	47635694	na	na	criteria provided, single submitter	-
Deletion	NM_000251.2(MSH2):c.646-?_792+?del	MSH2	Likely pathogenic	2	47639553	47639699	na	na	criteria provided, single submitter	-
Deletion	NC_000002.12:g.(?_47412414)_(47483228_?)del	MSH2	Pathogenic	2	47639553	47710367	na	na	criteria provided, single submitter	-
Deletion	NC_000002.12:g.(?_47790927)_(47801155_?)del	MSH6	Pathogenic	2	48018066	48028294	na	na	criteria provided, single submitter	-
Deletion	NM_000251.2(MSH2):c.1277-?_1661+?del	MSH2	Pathogenic	2	47672687	47693947	na	na	criteria provided, single submitter	-
Deletion	NM_000179.2(MSH6):c.458-?_3556+?del	MSH6	Pathogenic	2	48023033	48032166	na	na	criteria provided, multiple submitters, no conflicts	-