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_000535.7(PMS2):c.2275+1G>T	PMS2	Pathogenic	7	6018226	6018226	C	A	criteria provided, single submitter	ClinGen:CA366736382
single nucleotide variant	NM_000535.7(PMS2):c.2006+1G>C	PMS2	Likely pathogenic	7	6026389	6026389	C	G	criteria provided, single submitter	ClinGen:CA366738837
Deletion	NM_000535.7(PMS2):c.1579del (p.Arg527fs)	PMS2	Pathogenic	7	6026817	6026817	CT	C	criteria provided, single submitter	ClinGen:CA658655975
single nucleotide variant	NM_000535.7(PMS2):c.2353G>T (p.Glu785Ter)	PMS2	Pathogenic	7	6017311	6017311	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA366735869
Deletion	NM_000535.7(PMS2):c.748_749del (p.Ser250fs)	PMS2	Pathogenic	7	6037011	6037012	GGA	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA658657645
Deletion	NM_000535.7(PMS2):c.223del (p.Gly74_Val75insTer)	PMS2	Pathogenic	7	6043630	6043630	AC	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA658657657
Deletion	NM_000251.3(MSH2):c.75del (p.Met26fs)	MSH2	Pathogenic/Likely pathogenic	2	47630405	47630405	GC	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA658655657
Deletion	NM_000251.3(MSH2):c.1208del (p.Asp403fs)	MSH2	Pathogenic	2	47657012	47657012	GA	G	criteria provided, single submitter	ClinGen:CA658655668
Duplication	NM_000251.3(MSH2):c.729dup (p.Leu244fs)	MSH2	Pathogenic	2	47639634	47639635	C	CG	criteria provided, single submitter	ClinGen:CA658655710
single nucleotide variant	NM_000251.3(MSH2):c.1224T>G (p.Tyr408Ter)	MSH2	Pathogenic/Likely pathogenic	2	47657028	47657028	T	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA346734084