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
Duplication	NM_000251.3(MSH2):c.2532dup (p.Lys845Ter)	MSH2	Pathogenic	2	47707907	47707908	C	CT	criteria provided, single submitter	ClinGen:CA658655775
Deletion	NM_000251.3(MSH2):c.1478del (p.Gln493fs)	MSH2	Pathogenic	2	47690261	47690261	CA	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA658655652
Duplication	NM_000251.3(MSH2):c.2585dup (p.Tyr863fs)	MSH2	Pathogenic	2	47707959	47707960	A	AG	criteria provided, multiple submitters, no conflicts	ClinGen:CA658655784
Deletion	NM_000251.3(MSH2):c.1520del (p.Pro507fs)	MSH2	Pathogenic	2	47693804	47693804	AC	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA658655656
Deletion	NM_000179.3(MSH6):c.79del (p.Ala27fs)	MSH6	Pathogenic	2	48010449	48010449	AG	A	criteria provided, single submitter	ClinGen:CA658657034
single nucleotide variant	NM_000251.3(MSH2):c.1661+2T>C	MSH2	Pathogenic/Likely pathogenic	2	47693949	47693949	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA346728023
single nucleotide variant	NM_000251.3(MSH2):c.2563C>T (p.Gln855Ter)	MSH2	Pathogenic	2	47707939	47707939	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA346730930
Deletion	NM_000179.3(MSH6):c.517_520del (p.Leu173fs)	MSH6	Pathogenic/Likely pathogenic	2	48023091	48023094	TACTG	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA658655693
Duplication	NM_000179.3(MSH6):c.58dup (p.Ala20fs)	MSH6	Pathogenic	2	48010429	48010430	T	TG	criteria provided, multiple submitters, no conflicts	ClinGen:CA658657033
single nucleotide variant	NM_000179.3(MSH6):c.973C>T (p.Gln325Ter)	MSH6	Pathogenic	2	48026095	48026095	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA346740973