リンチ症候群 - MGenReviews

リンチ症候群

腫瘍性疾患

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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.648C>A (p.Cys216Ter)	PMS2	Pathogenic	7	6038796	6038796	G	T	criteria provided, single submitter	-
single nucleotide variant	NM_000535.7(PMS2):c.478C>T (p.Gln160Ter)	PMS2	Pathogenic	7	6042143	6042143	G	A	criteria provided, multiple submitters, no conflicts	-
Deletion	NC_000002.12:g.(?_47369496)_(47410382_?)del	EPCAM	Pathogenic	2	47596635	47637521	na	na	criteria provided, single submitter	-
Deletion	NC_000002.12:g.(?_47369496)_(47386623_?)del	EPCAM	Pathogenic	2	47596635	47613762	na	na	criteria provided, single submitter	-
Deletion	NC_000002.12:g.(?_47412404)_(47416439_?)del	MSH2	Pathogenic	2	47639543	47643578	na	na	criteria provided, single submitter	-
Deletion	NC_000002.12:g.(?_47369496)_(47442436_?)del	EPCAM	Pathogenic	2	47596635	47669575	na	na	criteria provided, single submitter	-
Deletion	NC_000002.12:g.(?_47373453)_(47416439_?)del	EPCAM	Pathogenic	2	47600592	47643578	na	na	criteria provided, single submitter	-
Deletion	NC_000002.12:g.(?_47377004)_(47377087_?)del	EPCAM	Pathogenic	2	47604143	47604226	na	na	criteria provided, single submitter	-
Deletion	NC_000002.12:g.(?_47385156)_(47386623_?)del	EPCAM	Pathogenic	2	47612295	47613762	na	na	criteria provided, single submitter	-
Deletion	NC_000002.12:g.(?_47403182)_(47405445_?)del	MSH2	Pathogenic	2	47630321	47632584	na	na	criteria provided, single submitter	-