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_000249.4(MLH1):c.589-2A>C	MLH1	Likely pathogenic	3	37053500	37053500	A	C	criteria provided, single submitter	-
single nucleotide variant	NM_000249.4(MLH1):c.678-1G>A	MLH1	Pathogenic/Likely pathogenic	3	37055922	37055922	G	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000249.4(MLH1):c.790+5G>A	MLH1	Pathogenic	3	37056040	37056040	G	A	criteria provided, single submitter	-
single nucleotide variant	NM_000249.4(MLH1):c.2104-1G>A	MLH1	Pathogenic/Likely pathogenic	3	37091976	37091976	G	A	criteria provided, multiple submitters, no conflicts	-
Duplication	NM_000251.3(MSH2):c.380dup (p.Asn127fs)	MSH2	Pathogenic	2	47637244	47637245	C	CA	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000251.3(MSH2):c.1273G>T (p.Glu425Ter)	MSH2	Pathogenic	2	47657077	47657077	G	T	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_000251.3(MSH2):c.1593del (p.Val532fs)	MSH2	Pathogenic/Likely pathogenic	2	47693875	47693875	GA	G	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000179.3(MSH6):c.1255C>T (p.Gln419Ter)	MSH6	Pathogenic	2	48026377	48026377	C	T	criteria provided, multiple submitters, no conflicts	-
Duplication	NM_000179.3(MSH6):c.1309dup (p.His437fs)	MSH6	Pathogenic/Likely pathogenic	2	48026429	48026430	A	AC	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000179.3(MSH6):c.1901T>A (p.Leu634Ter)	MSH6	Pathogenic	2	48027023	48027023	T	A	criteria provided, multiple submitters, no conflicts	-