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.1264G>T (p.Glu422Ter)	MSH2	Pathogenic	2	47657068	47657068	G	T	reviewed by expert panel	ClinGen:CA017696
Duplication	NM_000251.3(MSH2):c.1269dup (p.His424fs)	MSH2	Pathogenic	2	47657068	47657069	G	GA	reviewed by expert panel	ClinGen:CA017700
single nucleotide variant	NM_000251.3(MSH2):c.1276+1G>A	MSH2	Pathogenic	2	47657081	47657081	G	A	reviewed by expert panel	ClinGen:CA017744
single nucleotide variant	NM_000251.3(MSH2):c.1276+1G>C	MSH2	Likely pathogenic	2	47657081	47657081	G	C	reviewed by expert panel	ClinGen:CA017751
single nucleotide variant	NM_000251.3(MSH2):c.1276+1G>T	MSH2	Likely pathogenic	2	47657081	47657081	G	T	reviewed by expert panel	ClinGen:CA017756
Deletion	NM_000251.1(MSH2):c.1276+232_1386+3798del	MSH2	Pathogenic	2	47657312	47676594	na	na	reviewed by expert panel	-
single nucleotide variant	NM_000251.3(MSH2):c.1276+2T>A	MSH2	Likely pathogenic	2	47657082	47657082	T	A	reviewed by expert panel	ClinGen:CA017764
single nucleotide variant	NM_000251.3(MSH2):c.1277-1G>A	MSH2	Likely pathogenic	2	47672686	47672686	G	A	reviewed by expert panel	ClinGen:CA017815
single nucleotide variant	NM_000251.3(MSH2):c.1277-1G>C	MSH2	Likely pathogenic	2	47672686	47672686	G	C	reviewed by expert panel	ClinGen:CA017821
single nucleotide variant	NM_000251.3(MSH2):c.1277-2A>C	MSH2	Likely pathogenic	2	47672685	47672685	A	C	reviewed by expert panel	ClinGen:CA017836