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.3422del (p.Ser1141fs)	MSH6	Pathogenic	2	48030808	48030808	TC	T	criteria provided, single submitter	-
Deletion	NM_000179.3(MSH6):c.3509_3518del (p.Ile1170fs)	MSH6	Pathogenic	2	48032119	48032128	ATTGATAGAGT	A	criteria provided, single submitter	-
Duplication	NM_000179.3(MSH6):c.3563dup (p.Ser1188fs)	MSH6	Pathogenic	2	48032762	48032763	A	AG	criteria provided, single submitter	-
Duplication	NM_000179.3(MSH6):c.3836_3849dup (p.Thr1284fs)	MSH6	Pathogenic	2	48033624	48033625	A	AGCCAGGAGACTATT	criteria provided, single submitter	-
Duplication	NM_000179.3(MSH6):c.3951dup (p.Arg1318Ter)	MSH6	Pathogenic	2	48033739	48033740	A	AT	criteria provided, single submitter	-
Deletion	NM_000249.4(MLH1):c.493del (p.Ala165fs)	MLH1	Pathogenic	3	37050344	37050344	AG	A	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_000249.4(MLH1):c.567del (p.Ile190fs)	MLH1	Pathogenic	3	37053332	37053332	GC	G	criteria provided, single submitter	-
Deletion	NM_000249.4(MLH1):c.640del (p.Asp214fs)	MLH1	Pathogenic	3	37053552	37053552	TG	T	criteria provided, single submitter	-
single nucleotide variant	NM_000249.4(MLH1):c.735C>G (p.Tyr245Ter)	MLH1	Pathogenic	3	37055980	37055980	C	G	criteria provided, single submitter	-
Duplication	NM_000249.4(MLH1):c.1416dup (p.His473fs)	MLH1	Pathogenic	3	37070280	37070281	G	GA	criteria provided, multiple submitters, no conflicts	-