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_003242.6(TGFBR2):c.1051G>C (p.Gly351Arg)	TGFBR2	Likely pathogenic	3	30713726	30713726	G	C	criteria provided, single submitter	ClinGen:CA351808443
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.(?_47463025)_(47475276_?)del	MSH2	Pathogenic	2	47690164	47702415	na	na	criteria provided, single submitter	-
Deletion	NC_000002.12:g.(?_47795888)_(47803691_?)del	MSH6	Pathogenic	2	48023027	48030830	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	-
Deletion	NC_000002.12:g.(?_47373457)_(47379975_?)del	EPCAM	Pathogenic	2	47600596	47607114	na	na	criteria provided, single submitter	-
Deletion	NC_000002.12:g.(?_47408395)_(47414424_?)del	MSH2	Pathogenic	2	47635534	47641563	na	na	criteria provided, single submitter	-
Deletion	NC_000002.12:g.(?_47408395)_(47429947_?)del	MSH2	Pathogenic	2	47635534	47657086	na	na	criteria provided, single submitter	-
Deletion	NC_000002.12:g.(?_47804904)_(47805713_?)del	MSH6	Pathogenic	2	48032043	48032852	na	na	criteria provided, single submitter	-