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_000179.3(MSH6):c.1993G>T (p.Glu665Ter)	MSH6	Pathogenic/Likely pathogenic	2	48027115	48027115	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA346750651
single nucleotide variant	NM_000179.3(MSH6):c.2419G>T (p.Glu807Ter)	MSH6	Pathogenic	2	48027541	48027541	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA346754007
Deletion	NM_000535.7(PMS2):c.1275_1279del (p.Leu426fs)	PMS2	Pathogenic	7	6027117	6027121	CGAAGA	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA658796893
Deletion	NM_000535.5(PMS2):c.(?_989-5)_(2445+5_?)del	PMS2	Pathogenic	7	6017214	6029591	na	na	criteria provided, single submitter	-
Duplication	NM_000251.3(MSH2):c.1293dup (p.Leu432fs)	MSH2	Pathogenic	2	47672702	47672703	T	TA	criteria provided, multiple submitters, no conflicts	ClinGen:CA658795774
Duplication	NM_000251.3(MSH2):c.1637dup (p.Asn547fs)	MSH2	Pathogenic	2	47693921	47693922	G	GA	criteria provided, single submitter	ClinGen:CA658795780
Deletion	NM_000249.3(MLH1):c.(?_1732)_(2271_?)del	MLH1	Pathogenic	3	37089010	37092144	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_000535.7(PMS2):c.2239A>T (p.Arg747Ter)	PMS2	Pathogenic	7	6018263	6018263	T	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA366736632
single nucleotide variant	NM_000179.3(MSH6):c.1100A>G (p.His367Arg)	MSH6	Pathogenic	2	48026222	48026222	A	G	reviewed by expert panel	ClinGen:CA346741910
single nucleotide variant	NM_000249.4(MLH1):c.827T>G (p.Ile276Arg)	MLH1	Pathogenic	3	37059033	37059033	T	G	reviewed by expert panel	ClinGen:CA352046042