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
single nucleotide variant	NM_000251.3(MSH2):c.592G>A (p.Glu198Lys)	MSH2	Likely pathogenic	2	47637458	47637458	G	A	criteria provided, single submitter	-
Duplication	NM_000251.3(MSH2):c.592dup (p.Glu198fs)	MSH2	Pathogenic	2	47637456	47637457	A	AG	reviewed by expert panel	ClinGen:CA021495
single nucleotide variant	NM_000251.3(MSH2):c.595T>C (p.Cys199Arg)	MSH2	Pathogenic	2	47637461	47637461	T	C	reviewed by expert panel	ClinGen:CA021524,UniProtKB:P43246#VAR_012937
single nucleotide variant	NM_000251.3(MSH2):c.599T>A (p.Val200Asp)	MSH2	Pathogenic	2	47637465	47637465	T	A	reviewed by expert panel	ClinGen:CA021536
single nucleotide variant	NM_000251.3(MSH2):c.610G>T (p.Gly204Ter)	MSH2	Pathogenic	2	47637476	47637476	G	T	reviewed by expert panel	ClinGen:CA021582
single nucleotide variant	NM_000251.3(MSH2):c.613G>T (p.Glu205Ter)	MSH2	Pathogenic	2	47637479	47637479	G	T	reviewed by expert panel	ClinGen:CA021588
Duplication	NM_000251.3(MSH2):c.616dup (p.Thr206fs)	MSH2	Pathogenic	2	47637481	47637482	G	GA	reviewed by expert panel	ClinGen:CA021594
Deletion	NM_000251.3(MSH2):c.638_639del (p.Leu213fs)	MSH2	Pathogenic	2	47637504	47637505	CTG	C	reviewed by expert panel	ClinGen:CA021626
Deletion	NM_000251.3(MSH2):c.643_646del (p.Arg214_Gln215insTer)	MSH2	Pathogenic	2	47637508	47637511	GAGAC	G	reviewed by expert panel	ClinGen:CA021633
single nucleotide variant	NM_000251.3(MSH2):c.643C>T (p.Gln215Ter)	MSH2	Pathogenic	2	47637509	47637509	C	T	reviewed by expert panel	ClinGen:CA021638