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
Deletion	NM_000251.3(MSH2):c.1390del (p.Glu464fs)	MSH2	Pathogenic	2	47690172	47690172	TG	T	reviewed by expert panel	ClinGen:CA018218
single nucleotide variant	NM_000251.3(MSH2):c.1399G>T (p.Glu467Ter)	MSH2	Pathogenic	2	47690182	47690182	G	T	reviewed by expert panel	ClinGen:CA018225
Deletion	NM_000251.3(MSH2):c.1408del (p.Leu469_Val470insTer)	MSH2	Pathogenic	2	47690191	47690191	TG	T	reviewed by expert panel	ClinGen:CA018230
single nucleotide variant	NM_000251.3(MSH2):c.1418C>G (p.Ser473Ter)	MSH2	Pathogenic	2	47690201	47690201	C	G	reviewed by expert panel	ClinGen:CA018248
single nucleotide variant	NM_000251.3(MSH2):c.142G>T (p.Glu48Ter)	MSH2	Pathogenic	2	47630472	47630472	G	T	reviewed by expert panel	ClinGen:CA018272
single nucleotide variant	NM_000251.3(MSH2):c.1444A>T (p.Arg482Ter)	MSH2	Pathogenic	2	47690227	47690227	A	T	reviewed by expert panel	ClinGen:CA018301
Deletion	NM_000251.3(MSH2):c.1444del (p.Arg482fs)	MSH2	Pathogenic	2	47690226	47690226	TA	T	reviewed by expert panel	ClinGen:CA018306
Duplication	NM_000251.3(MSH2):c.1444dup (p.Arg482fs)	MSH2	Pathogenic	2	47690225	47690226	T	TA	reviewed by expert panel	ClinGen:CA018294
Deletion	NM_000251.3(MSH2):c.1445_1449del (p.Arg482fs)	MSH2	Pathogenic	2	47690226	47690230	TAAGAG	T	reviewed by expert panel	ClinGen:CA018314
single nucleotide variant	NM_000251.3(MSH2):c.1447G>T (p.Glu483Ter)	MSH2	Pathogenic	2	47690230	47690230	G	T	reviewed by expert panel	ClinGen:CA018326