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
Deletion	NM_000179.3(MSH6):c.3931del (p.Glu1311fs)	MSH6	Pathogenic	2	48033719	48033719	AG	A	criteria provided, multiple submitters, no conflicts	-
Deletion	NC_000002.12:g.(?_47369496)_(47369591_?)del	EPCAM	Pathogenic	2	47596635	47596730	na	na	criteria provided, single submitter	-
Deletion	NC_000002.12:g.(?_47478262)_(47478529_?)del	MSH2	Pathogenic	2	47705401	47705668	na	na	criteria provided, single submitter	-
Deletion	NC_000002.12:g.(?_47478262)_(47480881_?)del	MSH2	Pathogenic	2	47705401	47708020	na	na	criteria provided, single submitter	-
Deletion	NC_000002.12:g.(?_47783224)_(47806870_?)del	MSH6	Pathogenic	2	48010363	48034009	na	na	criteria provided, single submitter	-
Deletion	NC_000002.12:g.(?_47798601)_(47801165_?)del	MSH6	Pathogenic	2	48025740	48028304	na	na	criteria provided, single submitter	-
Deletion	NC_000003.12:g.(?_36993051)_(37008915_?)del	MLH1	Pathogenic	3	37034542	37050406	na	na	criteria provided, single submitter	-
Deletion	NC_000003.12:g.(?_36996609)_(37001063_?)del	MLH1	Pathogenic	3	37038100	37042554	na	na	criteria provided, single submitter	-
Deletion	NC_000003.12:g.(?_37047513)_(37047689_?)del	MLH1	Pathogenic	3	37089004	37089180	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_000249.4(MLH1):c.588+2T>G	MLH1	Pathogenic	3	37053355	37053355	T	G	criteria provided, multiple submitters, no conflicts	-