MUTYH関連ポリポーシス - MGenReviews

MUTYH関連ポリポーシス

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
Deletion	NM_001048174.2(MUTYH):c.1016_1017del (p.Pro339fs)	MUTYH	Likely pathogenic	1	45797418	45797419	TGG	T	criteria provided, single submitter	ClinGen:CA16610119
single nucleotide variant	NM_001048174.2(MUTYH):c.638G>A (p.Arg213Gln)	MUTYH	Likely pathogenic	1	45798129	45798129	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16610124
Duplication	NM_001048174.2(MUTYH):c.1465_1466dup (p.Ser490fs)	MUTYH	Likely pathogenic	1	45795077	45795078	G	GCA	criteria provided, single submitter	ClinGen:CA16610168
single nucleotide variant	NM_001048174.2(MUTYH):c.1407T>G (p.Tyr469Ter)	MUTYH	Likely pathogenic	1	45796215	45796215	A	C	criteria provided, single submitter	ClinGen:CA16617152
single nucleotide variant	NM_001048174.2(MUTYH):c.1102G>A (p.Gly368Ser)	MUTYH	Likely pathogenic	1	45797333	45797333	C	T	criteria provided, single submitter	ClinGen:CA16617156
Deletion	NC_000001.11:g.(?_45329300)_(45330563_?)del	MUTYH	Likely pathogenic	1	45794972	45796235	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_001048174.2(MUTYH):c.378+2T>G	MUTYH	Likely pathogenic	1	45798767	45798767	A	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA340136052
single nucleotide variant	NM_001048174.2(MUTYH):c.493-2A>G	MUTYH	Likely pathogenic	1	45798361	45798361	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA340135492
Deletion	NM_001048174.2(MUTYH):c.492+1del	MUTYH	Likely pathogenic	1	45798434	45798434	AC	A	criteria provided, single submitter	ClinGen:CA658656928
single nucleotide variant	NM_001048174.2(MUTYH):c.264+1G>T	MUTYH	Likely pathogenic	1	45799084	45799084	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA340136330

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