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
Duplication	NM_000179.3(MSH6):c.3922_3944dup (p.Lys1315fs)	MSH6	Pathogenic/Likely pathogenic	2	48033710	48033711	T	TCTCCCAGAGGAAGTTATTCAAAA	criteria provided, multiple submitters, no conflicts	ClinGen:CA645369298
Duplication	NM_000179.3(MSH6):c.3927_3957dup (p.Ala1320delinsArgGlySerTyrSerLysGlyThrTer)	MSH6	Pathogenic/Likely pathogenic	2	48033715	48033716	C	CAGAGGAAGTTATTCAAAAGGGACATAGAAAA	criteria provided, multiple submitters, no conflicts	ClinGen:CA645369299
Duplication	NM_000179.3(MSH6):c.3935_3954dup (p.Lys1319fs)	MSH6	Pathogenic	2	48033723	48033724	G	GTTATTCAAAAGGGACATAGA	criteria provided, multiple submitters, no conflicts	ClinGen:CA645369300
Deletion	NM_000179.3(MSH6):c.3951_3952del (p.His1317fs)	MSH6	Pathogenic	2	48033739	48033740	CAT	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA645369288
Deletion	NM_000179.3(MSH6):c.3957del (p.Ala1320fs)	MSH6	Pathogenic	2	48033743	48033743	GA	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA645369289
single nucleotide variant	NM_000179.3(MSH6):c.4001+1G>C	MSH6	Likely pathogenic	2	48033791	48033791	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA346761612
Inversion	NC_000002.11:g.38121110_47669522inv	MSH2	Pathogenic	2	38121110	47669522	na	na	criteria provided, single submitter	-
Deletion	NM_000251.3(MSH2):c.1708del (p.Tyr570fs)	MSH2	Pathogenic	2	47698150	47698150	AT	A	criteria provided, single submitter	ClinGen:CA16021331
Deletion	NM_000251.2(MSH2):c.1760-?_2458+?del	MSH2	Pathogenic	2	47702164	47705658	na	na	criteria provided, single submitter	-
Deletion	NM_000179.2(MSH6):c.3439-?_3556+?del	MSH6	Pathogenic	2	48032049	48032166	na	na	criteria provided, single submitter	-