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	NM_000535.7(PMS2):c.1500del (p.Val501fs)	PMS2	Pathogenic	7	6026896	6026896	CG	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA044058
single nucleotide variant	NM_000251.3(MSH2):c.1384C>T (p.Gln462Ter)	MSH2	Pathogenic/Likely pathogenic	2	47672794	47672794	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10576596
single nucleotide variant	NM_000179.3(MSH6):c.599C>G (p.Ser200Ter)	MSH6	Pathogenic	2	48023174	48023174	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA10577254
Deletion	NM_000179.3(MSH6):c.457+1del	MSH6	Likely pathogenic	2	48018262	48018262	AG	A	criteria provided, single submitter	ClinGen:CA10577256
Deletion	NM_000179.3(MSH6):c.1645del (p.Ser549fs)	MSH6	Pathogenic	2	48026766	48026766	AT	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10577262
Deletion	NM_000179.3(MSH6):c.1255_1268del (p.Gln419fs)	MSH6	Pathogenic/Likely pathogenic	2	48026374	48026387	GTCTCAGAACTTTGA	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA10577263
Deletion	NM_000179.3(MSH6):c.1502_1511del (p.His501fs)	MSH6	Pathogenic	2	48026624	48026633	CATATATCCAA	C	criteria provided, single submitter	ClinGen:CA10577264
Deletion	NM_000179.3(MSH6):c.1969del (p.Gln657fs)	MSH6	Pathogenic	2	48027088	48027088	AC	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10577268
Deletion	NM_000179.3(MSH6):c.2269_2270del (p.Thr757fs)	MSH6	Pathogenic/Likely pathogenic	2	48027391	48027392	AAC	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10577272
Insertion	NM_000179.3(MSH6):c.2354_2355insAGCATTGGCTTTGTGCCCCACTCTGTAACCA (p.His785delinsGlnAlaLeuAlaLeuCysProThrLeuTer)	MSH6	Pathogenic	2	48027450	48027451	A	ATGGCTTTGTGCCCCACTCTGTAACCAAGCAT	criteria provided, multiple submitters, no conflicts	ClinGen:CA10577276