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

Excelでダウンロード

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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
Deletion	NM_000249.4(MLH1):c.31del (p.Leu11fs)	MLH1	Pathogenic	3	37035069	37035069	GC	G	reviewed by expert panel	ClinGen:CA009781
single nucleotide variant	NM_000249.4(MLH1):c.320T>G (p.Ile107Arg)	MLH1	Pathogenic	3	37045905	37045905	T	G	reviewed by expert panel	ClinGen:CA009787,UniProtKB:P40692#VAR_004444
single nucleotide variant	NM_000249.4(MLH1):c.332C>T (p.Ala111Val)	MLH1	Likely pathogenic	3	37045917	37045917	C	T	reviewed by expert panel	ClinGen:CA009815,UniProtKB:P40692#VAR_012907
Deletion	NM_000249.4(MLH1):c.341del (p.Thr114fs)	MLH1	Pathogenic	3	37045926	37045926	AC	A	reviewed by expert panel	ClinGen:CA009826
Deletion	NM_000249.4(MLH1):c.346del (p.Thr116fs)	MLH1	Pathogenic	3	37045931	37045931	TA	T	reviewed by expert panel	ClinGen:CA009840
Duplication	NM_000249.4(MLH1):c.346dup (p.Thr116fs)	MLH1	Pathogenic	3	37045930	37045931	T	TA	reviewed by expert panel	ClinGen:CA009833
single nucleotide variant	NM_000249.4(MLH1):c.350C>G (p.Thr117Arg)	MLH1	Likely pathogenic	3	37045935	37045935	C	G	reviewed by expert panel	ClinGen:CA009864,UniProtKB:P40692#VAR_004446
Duplication	NM_000249.4(MLH1):c.354_355dup (p.Thr119fs)	MLH1	Pathogenic	3	37045936	37045937	G	GAA	reviewed by expert panel	ClinGen:CA009902
single nucleotide variant	NM_000249.4(MLH1):c.367A>T (p.Lys123Ter)	MLH1	Pathogenic	3	37045952	37045952	A	T	reviewed by expert panel	ClinGen:CA009925
single nucleotide variant	NM_000249.4(MLH1):c.378C>G (p.Tyr126Ter)	MLH1	Pathogenic	3	37045963	37045963	C	G	reviewed by expert panel	ClinGen:CA009980

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