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_000249.4(MLH1):c.117-1G>T	MLH1	Likely pathogenic	3	37038109	37038109	G	T	reviewed by expert panel	-
single nucleotide variant	NM_000249.4(MLH1):c.923A>C (p.His308Pro)	MLH1	Likely pathogenic	3	37061839	37061839	A	C	reviewed by expert panel	-
single nucleotide variant	NM_000535.7(PMS2):c.706-2A>T	PMS2	Likely pathogenic	7	6037056	6037056	T	A	criteria provided, single submitter	-
Duplication	NC_000002.11:g.(?_47641398)_(47657090_?)dup	MSH2	Likely pathogenic	2	47641398	47657090	na	na	criteria provided, single submitter	-
Deletion	NC_000002.12:g.(?_47478262)_(47482959_?)del	MSH2	Pathogenic	2	47705401	47710098	na	na	criteria provided, single submitter	-
Deletion	NC_000002.12:g.(?_47803410)_(47805037_?)del	MSH6	Pathogenic	2	48030549	48032176	na	na	criteria provided, single submitter	-
Deletion	NC_000002.12:g.(?_47403182)_(47403412_?)del	MSH2	Pathogenic	2	47630321	47630551	na	na	criteria provided, single submitter	-
Deletion	NC_000002.12:g.(?_47403182)_(47408565_?)del	MSH2	Pathogenic	2	47630321	47635704	na	na	criteria provided, single submitter	-
Deletion	NC_000002.12:g.(?_47790917)_(47801165_?)del	MSH6	Pathogenic	2	48018056	48028304	na	na	criteria provided, single submitter	-
Deletion	NM_002354.3(EPCAM):c.712del (p.Glu238fs)	EPCAM	Pathogenic	2	47606959	47606959	TG	T	criteria provided, single submitter	-