家族性大腸腺腫症 - MGenReviews

家族性大腸腺腫症

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
single nucleotide variant	NM_002439.5(MSH3):c.2686G>T (p.Gly896Ter)	MSH3	Pathogenic/Likely pathogenic	5	80109433	80109433	G	T	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_002439.5(MSH3):c.2695_2696del (p.Met899fs)	MSH3	Pathogenic	5	80109442	80109443	CAT	C	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_002439.5(MSH3):c.2803del (p.Ile935fs)	MSH3	Pathogenic	5	80109550	80109550	CA	C	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_002439.5(MSH3):c.2807del (p.Phe936fs)	MSH3	Pathogenic	5	80109551	80109551	AT	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_002528.7(NTHL1):c.782G>A (p.Trp261Ter)	NTHL1	Likely pathogenic	16	2090143	2090143	C	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_002528.7(NTHL1):c.604G>T (p.Glu202Ter)	NTHL1	Pathogenic	16	2093649	2093649	C	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_002528.7(NTHL1):c.472C>T (p.Gln158Ter)	NTHL1	Pathogenic	16	2094684	2094684	G	A	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_002528.7(NTHL1):c.460del (p.Asp154fs)	NTHL1	Pathogenic	16	2094696	2094696	TC	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_002528.7(NTHL1):c.433C>T (p.Arg145Ter)	NTHL1	Pathogenic/Likely pathogenic	16	2094723	2094723	G	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_002528.7(NTHL1):c.409C>T (p.Gln137Ter)	NTHL1	Pathogenic	16	2094747	2094747	G	A	criteria provided, multiple submitters, no conflicts	-

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