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.2635-2A>T	MSH2	Likely pathogenic	2	47709916	47709916	A	T	criteria provided, single submitter	ClinGen:CA346731304
single nucleotide variant	NM_000251.3(MSH2):c.2635-1G>A	MSH2	Pathogenic	2	47709917	47709917	G	A	criteria provided, single submitter	ClinGen:CA346731306
single nucleotide variant	NM_000251.3(MSH2):c.2635-1G>C	MSH2	Pathogenic/Likely pathogenic	2	47709917	47709917	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA346731308
single nucleotide variant	NM_000251.3(MSH2):c.2668A>T (p.Lys890Ter)	MSH2	Pathogenic	2	47709951	47709951	A	T	criteria provided, single submitter	ClinGen:CA346731472
Duplication	NM_000179.3(MSH6):c.151_167dup (p.Pro57fs)	MSH6	Pathogenic	2	48010515	48010516	C	CGGCCTGGAGCGAGGCTG	criteria provided, single submitter	ClinGen:CA645369229
single nucleotide variant	NM_000179.3(MSH6):c.154G>T (p.Glu52Ter)	MSH6	Pathogenic	2	48010526	48010526	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA346734949
Duplication	NM_000179.3(MSH6):c.356dup (p.Ile120fs)	MSH6	Pathogenic	2	48018159	48018160	A	AT	criteria provided, multiple submitters, no conflicts	ClinGen:CA645369259
single nucleotide variant	NM_000179.3(MSH6):c.377C>G (p.Ser126Ter)	MSH6	Pathogenic	2	48018182	48018182	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA346737042
Deletion	NM_000179.3(MSH6):c.423del (p.Trp142fs)	MSH6	Pathogenic/Likely pathogenic	2	48018228	48018228	GC	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA645369260
single nucleotide variant	NM_000179.3(MSH6):c.478C>T (p.Gln160Ter)	MSH6	Pathogenic	2	48023053	48023053	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA346738597