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.574C>T (p.Gln192Ter)	MSH3	Pathogenic/Likely pathogenic	5	79961177	79961177	C	T	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_002439.5(MSH3):c.586del (p.Thr196fs)	MSH3	Pathogenic/Likely pathogenic	5	79965921	79965921	CA	C	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_002439.5(MSH3):c.697G>T (p.Glu233Ter)	MSH3	Pathogenic	5	79966033	79966033	G	T	criteria provided, single submitter	-
single nucleotide variant	NM_002439.5(MSH3):c.708C>G (p.Tyr236Ter)	MSH3	Pathogenic	5	79966044	79966044	C	G	criteria provided, single submitter	-
single nucleotide variant	NM_002439.5(MSH3):c.802C>T (p.Arg268Ter)	MSH3	Pathogenic	5	79968072	79968072	C	T	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_002439.5(MSH3):c.978_984del (p.Phe326fs)	MSH3	Pathogenic/Likely pathogenic	5	79968628	79968634	TTTCCCGG	T	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_002439.5(MSH3):c.1040del (p.Leu347fs)	MSH3	Pathogenic	5	79970814	79970814	CT	C	criteria provided, multiple submitters, no conflicts	-
Duplication	NM_002439.5(MSH3):c.1060dup (p.Val354fs)	MSH3	Pathogenic/Likely pathogenic	5	79970833	79970834	T	TG	criteria provided, multiple submitters, no conflicts	-
Duplication	NM_002439.5(MSH3):c.1148dup (p.Asn385fs)	MSH3	Pathogenic	5	79970914	79970915	C	CA	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_002439.5(MSH3):c.1256C>G (p.Ser419Ter)	MSH3	Pathogenic/Likely pathogenic	5	79974828	79974828	C	G	criteria provided, multiple submitters, no conflicts	-

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