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.546-1G>C	MLH1	Pathogenic/Likely pathogenic	3	37053310	37053310	G	C	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000249.4(MLH1):c.885-2A>T	MLH1	Pathogenic	3	37061799	37061799	A	T	criteria provided, single submitter	-
single nucleotide variant	NM_000179.3(MSH6):c.627+1G>A	MSH6	Likely pathogenic	2	48023203	48023203	G	A	criteria provided, single submitter	-
Deletion	NM_000249.4(MLH1):c.1989_1989+8del	MLH1	Likely pathogenic	3	37090097	37090105	CTGAGGTCAG	C	criteria provided, multiple submitters, no conflicts	-
Deletion	NC_000003.12:g.(?_36993051)_(36996719_?)del	MLH1	Pathogenic	3	37034542	37038210	na	na	criteria provided, single submitter	-
Deletion	NC_000003.12:g.(?_36993051)_(37012109_?)del	MLH1	Pathogenic	3	37034542	37053600	na	na	criteria provided, single submitter	-
Deletion	NC_000003.12:g.(?_37047509)_(37047693_?)del	MLH1	Pathogenic	3	37089000	37089184	na	na	criteria provided, single submitter	-
Deletion	NC_000007.14:g.(?_5986749)_(5987630_?)del	PMS2	Pathogenic	7	6026380	6027261	na	na	criteria provided, single submitter	-
Deletion	NC_000007.14:g.(?_5986749)_(5989965_?)del	PMS2	Pathogenic	7	6026380	6029596	na	na	criteria provided, single submitter	-
Deletion	NC_000007.14:g.(?_5986749)_(5992067_?)del	PMS2	Pathogenic	7	6026380	6031698	na	na	criteria provided, single submitter	-