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_000179.3(MSH6):c.718C>T (p.Arg240Ter)	MSH6	Pathogenic	2	48025840	48025840	C	T	reviewed by expert panel	ClinGen:CA016325
single nucleotide variant	NM_000179.3(MSH6):c.730C>T (p.Gln244Ter)	MSH6	Pathogenic	2	48025852	48025852	C	T	reviewed by expert panel	ClinGen:CA016353
Insertion	NM_000179.3(MSH6):c.738_739insT (p.Lys247Ter)	MSH6	Pathogenic	2	48025860	48025861	A	AT	reviewed by expert panel	ClinGen:CA016360
single nucleotide variant	NM_000179.3(MSH6):c.742C>T (p.Arg248Ter)	MSH6	Pathogenic	2	48025864	48025864	C	T	reviewed by expert panel	ClinGen:CA016391
single nucleotide variant	NM_000179.3(MSH6):c.755C>G (p.Ser252Ter)	MSH6	Pathogenic	2	48025877	48025877	C	G	reviewed by expert panel	ClinGen:CA016437
Deletion	NM_000179.3(MSH6):c.762_763del (p.Glu255_Ser256insTer)	MSH6	Pathogenic	2	48025884	48025885	CTG	C	reviewed by expert panel	ClinGen:CA016443
single nucleotide variant	NM_000179.3(MSH6):c.814G>T (p.Glu272Ter)	MSH6	Pathogenic	2	48025936	48025936	G	T	reviewed by expert panel	ClinGen:CA016485
Duplication	NM_000179.3(MSH6):c.845dup (p.Asp284fs)	MSH6	Pathogenic	2	48025966	48025967	G	GT	reviewed by expert panel	ClinGen:CA016528
single nucleotide variant	NM_000179.3(MSH6):c.892C>T (p.Arg298Ter)	MSH6	Pathogenic	2	48026014	48026014	C	T	reviewed by expert panel	ClinGen:CA016604
Deletion	NM_000249.3(MLH1):c.(?_-198)_(*193_?)del	MLH1	Pathogenic	3	37034841	37092337	na	na	reviewed by expert panel	-