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
Deletion	NC_000002.12:g.(?_47385160)_(47403408_?)del	MSH2	Pathogenic	2	47612299	47630547	na	na	criteria provided, single submitter	-
Deletion	NC_000002.12:g.(?_47783228)_(47806866_?)del	MSH6	Pathogenic	2	48010367	48034005	na	na	criteria provided, single submitter	-
Deletion	NC_000002.12:g.(?_47803414)_(47803691_?)del	MSH6	Pathogenic	2	48030553	48030830	na	na	criteria provided, single submitter	-
Deletion	NM_000251.3(MSH2):c.934del (p.Leu312fs)	MSH2	Pathogenic	2	47641548	47641548	AC	A	criteria provided, single submitter	ClinGen:CA46684297
Deletion	NM_000251.3(MSH2):c.1339_1340del (p.Phe447fs)	MSH2	Pathogenic	2	47672749	47672750	CTT	C	criteria provided, single submitter	ClinGen:CA658795775
single nucleotide variant	NM_000251.3(MSH2):c.1139T>G (p.Leu380Ter)	MSH2	Pathogenic	2	47656943	47656943	T	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA346733647
Deletion	NM_000179.3(MSH6):c.171del (p.Arg58fs)	MSH6	Pathogenic/Likely pathogenic	2	48010541	48010541	GC	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA658795732
Deletion	NM_000251.3(MSH2):c.1413del (p.Lys471fs)	MSH2	Pathogenic	2	47690193	47690193	TA	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA658795778
Duplication	NM_000251.3(MSH2):c.2523dup (p.Glu842fs)	MSH2	Pathogenic	2	47707898	47707899	T	TA	criteria provided, multiple submitters, no conflicts	ClinGen:CA658795788
single nucleotide variant	NM_000251.3(MSH2):c.2557G>T (p.Glu853Ter)	MSH2	Pathogenic	2	47707933	47707933	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA346730905