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.3626_3627del (p.Leu1209fs)	MSH6	Pathogenic/Likely pathogenic	2	48032826	48032827	CTG	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA279739
Duplication	NM_000179.3(MSH6):c.3699_3702dup (p.Leu1235fs)	MSH6	Pathogenic/Likely pathogenic	2	48033392	48033393	T	TAAAG	criteria provided, multiple submitters, no conflicts	ClinGen:CA279773
Deletion	NM_000179.3(MSH6):c.3744_3773del (p.His1248_Ser1257del)	MSH6	Pathogenic/Likely pathogenic	2	48033436	48033465	ACTCACTACCATTCATTAGTAGAAGATTATT	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA279716
Duplication	NM_000179.3(MSH6):c.3863_3866dup (p.Phe1289fs)	MSH6	Pathogenic	2	48033651	48033652	A	AAATT	criteria provided, single submitter	ClinGen:CA279791
Duplication	NM_000179.3(MSH6):c.3999dup (p.Arg1334fs)	MSH6	Pathogenic/Likely pathogenic	2	48033785	48033786	A	AT	criteria provided, multiple submitters, no conflicts	ClinGen:CA279676
Deletion	NM_000249.3(MLH1):c.307-?_380+?del	MLH1	Pathogenic	3	37045892	37045965	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_000249.4(MLH1):c.583A>T (p.Lys195Ter)	MLH1	Pathogenic	3	37053348	37053348	A	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA279752
Deletion	NM_000249.4(MLH1):c.793del (p.Arg265fs)	MLH1	Pathogenic	3	37058999	37058999	TC	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA279792
Deletion	NM_000249.4(MLH1):c.1688_1689del (p.Ile563fs)	MLH1	Pathogenic	3	37083778	37083779	GAT	G	criteria provided, single submitter	ClinGen:CA279690
Deletion	NM_000249.4(MLH1):c.1719del (p.Leu574fs)	MLH1	Pathogenic	3	37083809	37083809	GT	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA279749