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.619G>T (p.Glu207Ter)	MSH6	Likely pathogenic	2	48023194	48023194	G	T	criteria provided, single submitter	-
Deletion	NM_000249.4(MLH1):c.2236_2247del (p.Leu746_Leu749del)	MLH1	Likely pathogenic	3	37092109	37092120	CCTGCCTGATCTA	C	criteria provided, single submitter	-
Deletion	NM_000251.3(MSH2):c.191del (p.Ile64fs)	MSH2	Pathogenic	2	47630521	47630521	AT	A	criteria provided, single submitter	-
single nucleotide variant	NM_000251.3(MSH2):c.198C>A (p.Tyr66Ter)	MSH2	Pathogenic	2	47630528	47630528	C	A	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_000251.3(MSH2):c.679del (p.Arg227fs)	MSH2	Pathogenic	2	47639584	47639584	GA	G	criteria provided, single submitter	-
Deletion	NM_000251.3(MSH2):c.812_813del (p.Ser271fs)	MSH2	Pathogenic	2	47641426	47641427	GTC	G	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000251.3(MSH2):c.832G>T (p.Glu278Ter)	MSH2	Pathogenic	2	47641447	47641447	G	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000251.3(MSH2):c.998G>T (p.Cys333Phe)	MSH2	Pathogenic/Likely pathogenic	2	47643490	47643490	G	T	criteria provided, multiple submitters, no conflicts	-
Duplication	NM_000251.3(MSH2):c.1151dup (p.Asp386fs)	MSH2	Pathogenic	2	47656953	47656954	A	AT	criteria provided, single submitter	-
Deletion	NM_000251.3(MSH2):c.1770del (p.Glu590fs)	MSH2	Pathogenic	2	47702173	47702173	GA	G	criteria provided, multiple submitters, no conflicts	-