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	NC_000003.12:g.(?_37006985)_(37008911_?)del	MLH1	Likely pathogenic	3	37048476	37050402	na	na	criteria provided, single submitter	-
Deletion	NM_000179.3(MSH6):c.2050del (p.Ala683_Leu684insTer)	MSH6	Pathogenic/Likely pathogenic	2	48027172	48027172	TC	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA658655799
Deletion	NM_000179.3(MSH6):c.2772_2773del (p.Gly925fs)	MSH6	Pathogenic	2	48027894	48027895	CTG	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA658655667
Deletion	NM_000179.3(MSH6):c.3238del (p.Leu1080fs)	MSH6	Pathogenic	2	48030624	48030624	TC	T	criteria provided, single submitter	ClinGen:CA658655686
Duplication	NM_000179.3(MSH6):c.3577_3580dup (p.Leu1194Ter)	MSH6	Pathogenic	2	48032775	48032776	T	TTGAA	criteria provided, single submitter	ClinGen:CA071421
Inversion	NM_000179.2(MSH6):c.3738_3759inv (p.His1248_Ser1251delinsAsnGluTrpTer)	MSH6	Pathogenic	2	48033434	48033455	AACTCACTACCATTCATTAGTA	TACTAATGAATGGTAGTGAGTT	criteria provided, single submitter	-
Deletion	NM_000179.3(MSH6):c.3801+1del	MSH6	Likely pathogenic	2	48033497	48033497	TG	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA658655741
Duplication	NM_000179.3(MSH6):c.3281dup (p.Arg1095fs)	MSH6	Pathogenic	2	48030666	48030667	T	TC	criteria provided, single submitter	ClinGen:CA658655690
Deletion	NM_000179.3(MSH6):c.3443del (p.Gly1148fs)	MSH6	Pathogenic	2	48032052	48032052	TG	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA658655711
Duplication	NM_000179.3(MSH6):c.3893dup (p.Tyr1298Ter)	MSH6	Pathogenic	2	48033681	48033682	T	TA	criteria provided, multiple submitters, no conflicts	ClinGen:CA658655761