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.862C>T (p.Gln288Ter)	MSH2	Pathogenic	2	47641477	47641477	C	T	reviewed by expert panel	ClinGen:CA022450
Deletion	NM_000251.3(MSH2):c.863del (p.Gln288fs)	MSH2	Pathogenic	2	47641478	47641478	CA	C	reviewed by expert panel	ClinGen:CA022453
single nucleotide variant	NM_000251.3(MSH2):c.868G>T (p.Glu290Ter)	MSH2	Pathogenic	2	47641483	47641483	G	T	reviewed by expert panel	ClinGen:CA022458
Deletion	NM_000251.3(MSH2):c.873_876del (p.Thr292fs)	MSH2	Pathogenic	2	47641485	47641488	AACTG	A	reviewed by expert panel	ClinGen:CA022463
Deletion	NM_000251.3(MSH2):c.881_882del (p.Thr293_Phe294insTer)	MSH2	Pathogenic	2	47641494	47641495	CTT	C	reviewed by expert panel	ClinGen:CA022473
Deletion	NM_000251.3(MSH2):c.888del (p.Phe296fs)	MSH2	Pathogenic	2	47641503	47641503	TC	T	reviewed by expert panel	ClinGen:CA022475
single nucleotide variant	NM_000251.3(MSH2):c.892C>T (p.Gln298Ter)	MSH2	Pathogenic	2	47641507	47641507	C	T	reviewed by expert panel	ClinGen:CA022486
single nucleotide variant	NM_000251.3(MSH2):c.901A>T (p.Lys301Ter)	MSH2	Pathogenic	2	47641516	47641516	A	T	reviewed by expert panel	ClinGen:CA022518
single nucleotide variant	NM_000251.3(MSH2):c.905T>A (p.Leu302Ter)	MSH2	Pathogenic	2	47641520	47641520	T	A	reviewed by expert panel	ClinGen:CA022523
Duplication	NM_000251.3(MSH2):c.915_922dup (p.Arg308fs)	MSH2	Pathogenic	2	47641529	47641530	C	CAGCAGTCA	reviewed by expert panel	ClinGen:CA022544