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.(?_47369500)_(47429947_?)del	EPCAM	Pathogenic	2	47596639	47657086	na	na	criteria provided, single submitter	-
Duplication	NM_000251.3(MSH2):c.655dup (p.Arg219fs)	MSH2	Pathogenic	2	47639559	47639560	C	CA	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_000251.3(MSH2):c.979del (p.Ala327fs)	MSH2	Pathogenic	2	47643470	47643470	TG	T	criteria provided, single submitter	-
single nucleotide variant	NM_000251.3(MSH2):c.2034T>A (p.Tyr678Ter)	MSH2	Pathogenic	2	47703534	47703534	T	A	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_000251.3(MSH2):c.2369del (p.Leu790fs)	MSH2	Pathogenic	2	47705568	47705568	CT	C	criteria provided, single submitter	-
Deletion	NM_000179.3(MSH6):c.84_85del (p.Glu30fs)	MSH6	Pathogenic	2	48010455	48010456	TCA	T	criteria provided, single submitter	-
single nucleotide variant	NM_000179.3(MSH6):c.394C>T (p.Gln132Ter)	MSH6	Pathogenic	2	48018199	48018199	C	T	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_000179.3(MSH6):c.1326del (p.Ile442fs)	MSH6	Pathogenic	2	48026447	48026447	AT	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000179.3(MSH6):c.1767T>A (p.Tyr589Ter)	MSH6	Pathogenic	2	48026889	48026889	T	A	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_000179.3(MSH6):c.3699del (p.Glu1234fs)	MSH6	Pathogenic	2	48033393	48033393	TA	T	criteria provided, multiple submitters, no conflicts	-