遺伝性混合ポリポーシス症候群 - MGenReviews

遺伝性混合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

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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_004329.3(BMPR1A):c.160del (p.Asp54fs)	BMPR1A	Pathogenic	10	88649910	88649910	AG	A	criteria provided, single submitter	ClinGen:CA645369466
Deletion	NM_004329.3(BMPR1A):c.367del (p.Glu123fs)	BMPR1A	Pathogenic	10	88659584	88659584	AG	A	criteria provided, single submitter	ClinGen:CA645369423
single nucleotide variant	NM_004329.3(BMPR1A):c.373T>G (p.Cys125Gly)	BMPR1A	Pathogenic	10	88659590	88659590	T	G	criteria provided, single submitter	ClinGen:CA377449439
single nucleotide variant	NM_004329.3(BMPR1A):c.388T>C (p.Cys130Arg)	BMPR1A	Pathogenic	10	88659605	88659605	T	C	criteria provided, single submitter	ClinGen:CA377449596
Indel	NM_004329.3(BMPR1A):c.441_458delinsGA (p.Phe147fs)	BMPR1A	Pathogenic	10	88659794	88659811	TGATGGCAGCATTCGATG	GA	criteria provided, multiple submitters, no conflicts	ClinGen:CA645369424
single nucleotide variant	NM_004329.3(BMPR1A):c.454C>T (p.Arg152Ter)	BMPR1A	Pathogenic	10	88659807	88659807	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA377450232
single nucleotide variant	NM_004329.3(BMPR1A):c.458G>A (p.Trp153Ter)	BMPR1A	Pathogenic	10	88659811	88659811	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA377450259
Deletion	NM_004329.3(BMPR1A):c.481del (p.Ala161fs)	BMPR1A	Pathogenic	10	88659833	88659833	TG	T	criteria provided, single submitter	ClinGen:CA645369425
single nucleotide variant	NM_004329.3(BMPR1A):c.551C>G (p.Ser184Ter)	BMPR1A	Pathogenic	10	88672017	88672017	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA377454239
single nucleotide variant	NM_004329.3(BMPR1A):c.735T>G (p.Tyr245Ter)	BMPR1A	Pathogenic	10	88676950	88676950	T	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA377457369

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