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
Duplication	NM_000179.3(MSH6):c.3930_3978dup (p.Asn1327delinsGlySerTyrSerLysGlyThrTer)	MSH6	Pathogenic	2	48033718	48033719	A	AGGAAGTTATTCAAAAGGGACATAGAAAAGCAAGAGAATTTGAGAAGATG	criteria provided, single submitter	-
Deletion	NC_000003.12:g.(?_37014426)_(37028938_?)del	MLH1	Pathogenic	3	37055917	37070429	na	na	criteria provided, single submitter	-
Deletion	NC_000003.12:g.(?_37020300)_(37050663_?)del	MLH1	Pathogenic	3	37061791	37092154	na	na	criteria provided, single submitter	-
Deletion	NC_000007.14:g.(?_5989790)_(5992067_?)del	PMS2	Pathogenic	7	6029421	6031698	na	na	criteria provided, single submitter	-
Deletion	NC_000007.14:g.(?_5991963)_(6009029_?)del	PMS2	Pathogenic	7	6031594	6048660	na	na	criteria provided, single submitter	-
Deletion	NC_000007.14:g.(?_5973389)_(5983001_?)del	PMS2	Pathogenic	7	6013020	6022632	na	na	criteria provided, single submitter	-
Deletion	NC_000007.14:g.(?_5986749)_(5997433_?)del	PMS2	Pathogenic	7	6026380	6037064	na	na	criteria provided, single submitter	-
Deletion	NC_000007.14:g.(?_6005882)_(6006041_?)del	PMS2	Pathogenic	7	6045513	6045672	na	na	criteria provided, single submitter	-
Deletion	NC_000007.14:g.(?_6008987)_(6009029_?)del	PMS2	Pathogenic	7	6048618	6048660	na	na	criteria provided, single submitter	-
Deletion	NM_000249.4(MLH1):c.474del (p.Asn158fs)	MLH1	Pathogenic	3	37050325	37050325	AC	A	criteria provided, single submitter	-