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_000249.4(MLH1):c.440G>A (p.Gly147Glu)	MLH1	Likely pathogenic	3	37048541	37048541	G	A	reviewed by expert panel	-
Deletion	NM_000249.4(MLH1):c.845_858del (p.Ala282fs)	MLH1	Pathogenic	3	37059051	37059064	GCCTATTTGCCCAAA	G	criteria provided, single submitter	-
single nucleotide variant	NM_000249.4(MLH1):c.885-1G>A	MLH1	Pathogenic/Likely pathogenic	3	37061800	37061800	G	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000249.4(MLH1):c.1279C>T (p.Gln427Ter)	MLH1	Pathogenic	3	37067368	37067368	C	T	criteria provided, multiple submitters, no conflicts	-
Deletion	NC_000007.14:g.(?_5977578)_(5983001_?)del	PMS2	Pathogenic	7	6017209	6022632	na	na	criteria provided, single submitter	-
Deletion	NC_000007.14:g.(?_5991963)_(6002646_?)del	PMS2	Pathogenic	7	6031594	6042277	na	na	criteria provided, single submitter	-
Deletion	NC_000007.14:g.(?_5997316)_(5997433_?)del	PMS2	Pathogenic	7	6036947	6037064	na	na	criteria provided, single submitter	-
Indel	NM_000535.7(PMS2):c.2007-4_2007-1delinsACAC	PMS2	Likely pathogenic	7	6022623	6022626	CTGC	GTGT	criteria provided, single submitter	-
Deletion	NM_000535.7(PMS2):c.1027del (p.Ile343fs)	PMS2	Pathogenic	7	6029548	6029548	AT	A	criteria provided, single submitter	-
single nucleotide variant	NM_000535.7(PMS2):c.251-1G>T	PMS2	Pathogenic/Likely pathogenic	7	6043424	6043424	C	A	criteria provided, multiple submitters, no conflicts	-