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_000251.1(MSH2):c.-4729_367-353del	MSH2	Pathogenic	2	47625602	47636880	na	na	reviewed by expert panel	LOVD 3:MSH2_000862 in LOVD/msh2,dbVar:nssv1415022,OMIM:609309.0017
Deletion	NM_000251.2(MSH2):c.-78_-77del	MSH2	Likely pathogenic	2	47630252	47630253	CGT	C	reviewed by expert panel	ClinGen:CA022252
Deletion	NM_000251.1(MSH2):c.-823_1076+5984del	MSH2	Pathogenic	2	47629508	47649552	na	na	reviewed by expert panel	dbVar:nssv1415020,OMIM:609309.0018
Deletion	NM_000251.1(MSH2):c.-956_1077-5607del	MSH2	Pathogenic	2	47629375	47651274	na	na	reviewed by expert panel	-
single nucleotide variant	NM_000251.3(MSH2):c.1000A>T (p.Lys334Ter)	MSH2	Pathogenic	2	47643492	47643492	A	T	reviewed by expert panel	ClinGen:CA016794
Deletion	NM_000251.3(MSH2):c.1007del (p.Pro336fs)	MSH2	Pathogenic	2	47643496	47643496	AC	A	reviewed by expert panel	ClinGen:CA016822
single nucleotide variant	NM_000251.3(MSH2):c.1009C>T (p.Gln337Ter)	MSH2	Pathogenic	2	47643501	47643501	C	T	reviewed by expert panel	ClinGen:CA016831
single nucleotide variant	NM_000251.3(MSH2):c.1012G>A (p.Gly338Arg)	MSH2	Pathogenic	2	47643504	47643504	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA016843
single nucleotide variant	NM_000251.3(MSH2):c.1013G>A (p.Gly338Glu)	MSH2	Pathogenic	2	47643505	47643505	G	A	reviewed by expert panel	ClinGen:CA016852
Deletion	NM_000251.3(MSH2):c.1017_1018del (p.Arg340fs)	MSH2	Pathogenic	2	47643508	47643509	CAA	C	reviewed by expert panel	ClinGen:CA016865