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

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_001048174.2(MUTYH):c.1407T>G (p.Tyr469Ter)	MUTYH	Likely pathogenic	1	45796215	45796215	A	C	criteria provided, single submitter	ClinGen:CA16617152
Duplication	NM_001048174.2(MUTYH):c.1363dup (p.Thr455fs)	MUTYH	Pathogenic/Likely pathogenic	1	45796882	45796883	G	GT	criteria provided, multiple submitters, no conflicts	ClinGen:CA16617154
Deletion	NM_001048174.2(MUTYH):c.1237del (p.Glu413fs)	MUTYH	Pathogenic/Likely pathogenic	1	45797094	45797094	TC	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16617155
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
Indel	NM_001048174.2(MUTYH):c.632_637delinsCAGCTGCT (p.Val211fs)	MUTYH	Pathogenic	1	45798130	45798135	GTGCTA	AGCAGCTG	criteria provided, multiple submitters, no conflicts	ClinGen:CA16617162
single nucleotide variant	NM_001048174.2(MUTYH):c.604C>T (p.Gln202Ter)	MUTYH	Pathogenic/Likely pathogenic	1	45798248	45798248	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16617164
Deletion	NM_001128425.2(MUTYH):c.200del (p.Gly67fs)	MUTYH	Pathogenic/Likely pathogenic	1	45799233	45799233	GC	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA055834
single nucleotide variant	NM_001128425.2(MUTYH):c.35G>A (p.Trp12Ter)	MUTYH	Pathogenic/Likely pathogenic	1	45805892	45805892	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16617170
single nucleotide variant	NM_001048174.2(MUTYH):c.1041T>A (p.Cys347Ter)	MUTYH	Pathogenic	1	45797394	45797394	A	T	criteria provided, single submitter	ClinGen:CA340133475
Deletion	NC_000001.11:g.(?_45329306)_(45333324_?)del	MUTYH	Pathogenic	1	45794978	45798996	na	na	criteria provided, single submitter	-

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