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_003242.6(TGFBR2):c.1495G>T (p.Glu499Ter)	TGFBR2	Likely pathogenic	3	30729974	30729974	G	T	criteria provided, single submitter	-
single nucleotide variant	NM_000179.2(MSH6):c.755C>G (p.Ser252Ter)	MSH6	Pathogenic	2	48025877	48025877	C	G	reviewed by expert panel	-
deletion	NM_001281493.1(MSH6):c.-145_-144del	MSH6	Pathogenic	2	48025884	48025885	CTG	C	reviewed by expert panel	-
deletion	NM_001354624.1(MLH1):c.-25del	MLH1	Pathogenic	3	37067139	37067139	CA	C	reviewed by expert panel	-
deletion	NM_001354624.1(MLH1):c.-14del	MLH1	Pathogenic	3	37067149	37067149	TG	T	reviewed by expert panel	-
deletion	NM_001354624.1(MLH1):c.-4_4del (p.Met1fs)	MLH1	Pathogenic	3	37067157	37067164	CTGGGGAGA	C	reviewed by expert panel	-
deletion	NM_000179.2(MSH6):c.-11863_457+1921del	MSH6	Pathogenic	2	47998510	48020183	na	na	reviewed by expert panel	-
deletion	NM_000179.2(MSH6):c.(?_-152)_(*93_?)del	MSH6	Pathogenic	2	48010221	48034092	na	na	reviewed by expert panel	-
deletion	NM_000179.2(MSH6):c.(?_-152)_457+?del	MSH6	Pathogenic	2	48010221	48018262	na	na	reviewed by expert panel	-
deletion	NM_000179.2(MSH6):c.-3097_457+2010del	MSH6	Pathogenic	2	48007276	48020272	na	na	reviewed by expert panel	-