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_000179.3(MSH6):c.697_698del (p.Gln232_Pro233insTer)	MSH6	Pathogenic	2	48025819	48025820	GCC	G	criteria provided, single submitter	-
Insertion	NM_000179.3(MSH6):c.850_851insC (p.Asp284fs)	MSH6	Pathogenic	2	48025972	48025973	G	GC	criteria provided, single submitter	-
Duplication	NM_000179.3(MSH6):c.885dup (p.Val296fs)	MSH6	Pathogenic	2	48026004	48026005	C	CA	criteria provided, multiple submitters, no conflicts	-
Duplication	NM_000179.3(MSH6):c.1248dup (p.Lys417Ter)	MSH6	Pathogenic	2	48026368	48026369	A	AT	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000179.3(MSH6):c.1281C>G (p.Tyr427Ter)	MSH6	Pathogenic	2	48026403	48026403	C	G	criteria provided, single submitter	-
Deletion	NM_000179.3(MSH6):c.1512del (p.Lys504fs)	MSH6	Pathogenic	2	48026634	48026634	AG	A	criteria provided, multiple submitters, no conflicts	-
Duplication	NM_000179.3(MSH6):c.1608dup (p.Lys537Ter)	MSH6	Pathogenic	2	48026729	48026730	G	GT	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_000179.3(MSH6):c.1819del (p.Thr607fs)	MSH6	Pathogenic	2	48026938	48026938	TA	T	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_000179.3(MSH6):c.2041del (p.Leu681fs)	MSH6	Pathogenic	2	48027161	48027161	GC	G	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_000179.3(MSH6):c.2118del (p.Phe706fs)	MSH6	Pathogenic	2	48027237	48027237	AT	A	criteria provided, single submitter	-