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.1360C>T (p.Arg454Ter)	MSH3	Pathogenic	5	80021291	80021291	C	T	criteria provided, multiple submitters, no conflicts	-
Indel	NM_002439.5(MSH3):c.1545_1546delinsC (p.Leu515fs)	MSH3	Pathogenic	5	80024761	80024762	GG	C	criteria provided, single submitter	-
single nucleotide variant	NM_002439.5(MSH3):c.1586C>G (p.Ser529Ter)	MSH3	Pathogenic	5	80037300	80037300	C	G	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_002439.5(MSH3):c.1642del (p.Leu548fs)	MSH3	Pathogenic	5	80037355	80037355	TC	T	criteria provided, single submitter	-
Duplication	NM_002439.5(MSH3):c.1648_1649dup (p.Asn550fs)	MSH3	Pathogenic	5	80037361	80037362	G	GAA	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_002439.5(MSH3):c.2107_2110del (p.Phe703fs)	MSH3	Pathogenic	5	80064673	80064676	ATTAT	A	criteria provided, multiple submitters, no conflicts	-
Duplication	NM_002439.5(MSH3):c.2141dup (p.Arg715fs)	MSH3	Pathogenic	5	80064704	80064705	T	TA	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_002439.5(MSH3):c.2179C>T (p.Arg727Ter)	MSH3	Pathogenic	5	80064748	80064748	C	T	criteria provided, multiple submitters, no conflicts	-
Duplication	NM_002439.5(MSH3):c.2216dup (p.Asn739fs)	MSH3	Pathogenic	5	80064779	80064780	T	TA	criteria provided, single submitter	-
single nucleotide variant	NM_002439.5(MSH3):c.2663C>G (p.Ser888Ter)	MSH3	Pathogenic	5	80109410	80109410	C	G	criteria provided, multiple submitters, no conflicts	-

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