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_001048174.2(MUTYH):c.704G>A (p.Trp235Ter)	MUTYH	Pathogenic	1	45798063	45798063	C	T	criteria provided, single submitter	-
Deletion	NM_001048174.2(MUTYH):c.549_576del (p.Leu184fs)	MUTYH	Pathogenic	1	45798276	45798303	CAGCTGTGTAGCGCCCCACGCCAGGCAGG	C	criteria provided, single submitter	-
Duplication	NM_001048174.2(MUTYH):c.192dup (p.Val65fs)	MUTYH	Pathogenic	1	45799156	45799157	C	CT	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_001048174.2(MUTYH):c.1A>G (p.Met1Val)	MUTYH	Pathogenic/Likely pathogenic	1	45800177	45800177	T	C	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_000038.6(APC):c.156del (p.Gly53fs)	APC	Pathogenic	5	112102042	112102042	CA	C	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_000038.6(APC):c.366del (p.Phe123fs)	APC	Pathogenic	5	112103029	112103029	AG	A	criteria provided, single submitter	-
Duplication	NM_000038.6(APC):c.516dup (p.Pro173fs)	APC	Pathogenic	5	112111417	112111418	C	CT	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_000038.6(APC):c.656_659del (p.Ala219fs)	APC	Pathogenic	5	112128151	112128154	TAGCC	T	criteria provided, single submitter	-
single nucleotide variant	NM_000038.6(APC):c.664C>T (p.Gln222Ter)	APC	Pathogenic	5	112128161	112128161	C	T	criteria provided, single submitter	-
single nucleotide variant	NM_000038.6(APC):c.712C>T (p.Gln238Ter)	APC	Pathogenic	5	112128209	112128209	C	T	criteria provided, multiple submitters, no conflicts	-

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