リンチ症候群 - MGenReviews

リンチ症候群

腫瘍性疾患

疾患の紹介

病的バリアントリスト

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最新の情報は下記 URL でご確認いただけます (外部サイトへ移動します) 。

https://ftp.ncbi.nlm.nih.gov/pub/clinvar/tab_delimited/archive/

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.277C>T (p.Leu93Phe)	MSH2	Likely pathogenic	2	47635605	47635605	C	T	reviewed by expert panel	ClinGen:CA020925,UniProtKB:P43246#VAR_043743
Deletion	NM_000251.3(MSH2):c.278_279del (p.Leu93fs)	MSH2	Pathogenic	2	47635606	47635607	CTT	C	reviewed by expert panel	ClinGen:CA020927
single nucleotide variant	NM_000251.3(MSH2):c.289C>T (p.Gln97Ter)	MSH2	Pathogenic	2	47635617	47635617	C	T	reviewed by expert panel	ClinGen:CA020970
single nucleotide variant	NM_000251.3(MSH2):c.28C>T (p.Gln10Ter)	MSH2	Pathogenic	2	47630358	47630358	C	T	reviewed by expert panel	ClinGen:CA020976
Duplication	NM_000251.3(MSH2):c.29dup (p.Leu11fs)	MSH2	Pathogenic	2	47630358	47630359	C	CA	reviewed by expert panel	ClinGen:CA020978
single nucleotide variant	NM_000251.3(MSH2):c.301G>T (p.Glu101Ter)	MSH2	Pathogenic	2	47635629	47635629	G	T	reviewed by expert panel	ClinGen:CA020992
Deletion	NM_000251.3(MSH2):c.301_306del (p.Glu101_Val102del)	MSH2	Likely pathogenic	2	47635625	47635630	GAGTTGA	G	reviewed by expert panel	ClinGen:CA020989
Deletion	NM_000251.3(MSH2):c.344del (p.Asn115fs)	MSH2	Pathogenic	2	47635671	47635671	GA	G	reviewed by expert panel	ClinGen:CA021035
Deletion	NM_000251.3(MSH2):c.347_350del (p.Asp116fs)	MSH2	Pathogenic	2	47635673	47635676	ATGAT	A	reviewed by expert panel	ClinGen:CA021038
Duplication	NM_000251.3(MSH2):c.34dup (p.Glu12fs)	MSH2	Pathogenic	2	47630362	47630363	T	TG	reviewed by expert panel	ClinGen:CA021031

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