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	NC_000002.12:g.(?_47378953)_(47387028_?)del	EPCAM	Pathogenic	2	47606092	47614167	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	NM_002354.2(EPCAM):c.904-?_945+?del	EPCAM	Pathogenic	2	47613711	47613752	na	na	criteria provided, single submitter	-
Deletion	NC_000002.12:g.(?_47369500)_(47445663_?)del	EPCAM	Pathogenic	2	47596639	47672802	na	na	criteria provided, single submitter	-
Deletion	NC_000002.12:g.(?_47369500)_(47369587_?)del	EPCAM	Pathogenic	2	47596639	47596726	na	na	criteria provided, single submitter	-
Deletion	NC_000002.12:g.(?_47385160)_(47482955_?)del	EPCAM	Pathogenic	2	47612299	47710094	na	na	criteria provided, single submitter	-
Insertion	NM_002354.3(EPCAM):c.373_374insC (p.Arg125fs)	EPCAM	Pathogenic	2	47601135	47601136	A	AC	criteria provided, single submitter	ClinGen:CA658683183
Deletion	NC_000002.12:g.(?_47369500)_(47379975_?)del	EPCAM	Pathogenic	2	47596639	47607114	na	na	criteria provided, single submitter	-
Deletion	NC_000002.12:g.(?_47377008)_(47410378_?)del	EPCAM	Pathogenic	2	47604147	47637517	na	na	criteria provided, single submitter	-
Deletion	NC_000002.12:g.(?_47373457)_(47386619_?)del	EPCAM	Pathogenic	2	47600596	47613758	na	na	criteria provided, single submitter	-