リンチ症候群 - MGenReviews

リンチ症候群

腫瘍性疾患

表のタイトル行が青色の項目は、クリックすることでソートすることができます。

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.652C>T (p.Gln218Ter)	MSH2	Pathogenic	2	47639559	47639559	C	T	reviewed by expert panel	ClinGen:CA021710
Indel	NM_000251.3(MSH2):c.675_679delinsTAAT (p.Glu226fs)	MSH2	Pathogenic	2	47639582	47639586	AGAAA	TAAT	reviewed by expert panel	ClinGen:CA021733
single nucleotide variant	NM_000251.3(MSH2):c.685A>T (p.Lys229Ter)	MSH2	Pathogenic	2	47639592	47639592	A	T	reviewed by expert panel	ClinGen:CA021947
Deletion	NM_000251.3(MSH2):c.687del (p.Ala230fs)	MSH2	Pathogenic	2	47639588	47639588	GA	G	reviewed by expert panel	ClinGen:CA021998
Duplication	NM_000251.3(MSH2):c.687dup (p.Ala230fs)	MSH2	Pathogenic	2	47639587	47639588	G	GA	reviewed by expert panel	ClinGen:CA021991
Deletion	NM_000251.3(MSH2):c.691del (p.Asp231fs)	MSH2	Pathogenic	2	47639598	47639598	TG	T	reviewed by expert panel	ClinGen:CA022028
Deletion	NM_000251.3(MSH2):c.696_697del (p.Ser233fs)	MSH2	Pathogenic	2	47639601	47639602	CTT	C	reviewed by expert panel	ClinGen:CA022033
Deletion	NM_000251.3(MSH2):c.704_705del (p.Lys235fs)	MSH2	Pathogenic	2	47639609	47639610	CAA	C	reviewed by expert panel	ClinGen:CA022059
Deletion	NM_000251.3(MSH2):c.705del (p.Asp236fs)	MSH2	Pathogenic	2	47639609	47639609	CA	C	reviewed by expert panel	ClinGen:CA022063
Deletion	NM_000251.3(MSH2):c.711_714del (p.Tyr238fs)	MSH2	Pathogenic	2	47639616	47639619	CATTT	C	reviewed by expert panel	ClinGen:CA022080