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
single nucleotide variant	NM_004329.3(BMPR1A):c.964A>T (p.Lys322Ter)	BMPR1A	Pathogenic	10	88679024	88679024	A	T	criteria provided, single submitter	ClinGen:CA377460285
Duplication	NM_004329.3(BMPR1A):c.1058_1059dup (p.Gly354fs)	BMPR1A	Pathogenic	10	88679117	88679118	C	CAA	criteria provided, single submitter	ClinGen:CA645369465
single nucleotide variant	NM_004329.3(BMPR1A):c.1221C>G (p.Tyr407Ter)	BMPR1A	Pathogenic/Likely pathogenic	10	88681331	88681331	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA377461997
single nucleotide variant	NM_004329.3(BMPR1A):c.1460G>A (p.Trp487Ter)	BMPR1A	Pathogenic	10	88683250	88683250	G	A	criteria provided, single submitter	ClinGen:CA377463185
single nucleotide variant	NM_004329.3(BMPR1A):c.64C>T (p.Gln22Ter)	BMPR1A	Pathogenic	10	88635839	88635839	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA377774871
single nucleotide variant	NM_004329.3(BMPR1A):c.697C>T (p.Gln233Ter)	BMPR1A	Pathogenic/Likely pathogenic	10	88676912	88676912	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA377457014
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

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