若年性ポリポーシス症候群 - MGenReviews

若年性ポリポーシス症候群

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

1
...
11
12
13
14
15
...
23

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
Duplication	NM_004329.3(BMPR1A):c.578dup (p.Leu193fs)	BMPR1A	Pathogenic	10	88672041	88672042	A	AT	criteria provided, single submitter	ClinGen:CA658657981
single nucleotide variant	NM_004329.3(BMPR1A):c.834C>A (p.Tyr278Ter)	BMPR1A	Pathogenic	10	88677049	88677049	C	A	criteria provided, single submitter	ClinGen:CA377458622
single nucleotide variant	NM_004329.3(BMPR1A):c.567C>A (p.Tyr189Ter)	BMPR1A	Pathogenic	10	88672033	88672033	C	A	criteria provided, single submitter	ClinGen:CA377454413
Duplication	NM_004329.3(BMPR1A):c.957dup (p.Phe320fs)	BMPR1A	Pathogenic	10	88679016	88679017	A	AC	criteria provided, single submitter	ClinGen:CA658657987
Deletion	NC_000018.9:g.(?_48573411)_(48604843_?)del	SMAD4	Pathogenic	18	48573411	48604843	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_005359.6(SMAD4):c.461C>G (p.Ser154Ter)	SMAD4	Pathogenic	18	48581157	48581157	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA402460591
Deletion	NM_005359.6(SMAD4):c.1138del (p.Arg380fs)	SMAD4	Pathogenic	18	48591974	48591974	CA	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA658658745
Deletion	NM_005359.6(SMAD4):c.1166_1167del (p.Gln388_Leu389insTer)	SMAD4	Pathogenic	18	48593415	48593416	TTG	T	criteria provided, single submitter	ClinGen:CA658658748
Deletion	NM_005359.6(SMAD4):c.1228_1229del (p.Gln410fs)	SMAD4	Pathogenic	18	48593476	48593477	TAC	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA658658750
Deletion	NC_000018.10:g.(?_51065417)_(51067193_?)del	SMAD4	Pathogenic	18	48591787	48593563	na	na	criteria provided, single submitter	-

1
...
11
12
13
14
15
...
23