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
Deletion	NM_000038.6(APC):c.6137del (p.Ala2046fs)	APC	Pathogenic	5	112177428	112177428	GC	G	criteria provided, single submitter	-
Deletion	NC_000005.10:g.(?_112815485)_(112835175_?)del	APC	Pathogenic	5	112151182	112170872	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_000038.6(APC):c.7498C>T (p.Gln2500Ter)	APC	Pathogenic	5	112178789	112178789	C	T	criteria provided, single submitter	-
Insertion	NM_000038.6(APC):c.2466_2467insA (p.Ser823fs)	APC	Pathogenic	5	112173757	112173758	T	TA	criteria provided, multiple submitters, no conflicts	-
Duplication	NM_000038.6(APC):c.2652dup (p.Ala885fs)	APC	Pathogenic	5	112173942	112173943	C	CA	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_000038.6(APC):c.2999_3005del (p.Tyr1000fs)	APC	Pathogenic	5	112174290	112174296	TACCCAGC	T	criteria provided, single submitter	-
Duplication	NM_000038.6(APC):c.3670_3671dup (p.Asn1224fs)	APC	Pathogenic/Likely pathogenic	5	112174960	112174961	T	TAA	criteria provided, multiple submitters, no conflicts	-
Duplication	NM_000038.6(APC):c.4463dup (p.Leu1488fs)	APC	Pathogenic	5	112175751	112175752	C	CT	criteria provided, multiple submitters, no conflicts	-
Duplication	NM_000038.6(APC):c.5820dup (p.Pro1941fs)	APC	Pathogenic	5	112177110	112177111	T	TA	criteria provided, multiple submitters, no conflicts	-
Insertion	NM_000038.6(APC):c.6011_6012insTT (p.Ser2005fs)	APC	Pathogenic	5	112177302	112177303	C	CTT	criteria provided, multiple submitters, no conflicts	-

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