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	NC_000010.11:g.(?_86755016)_(86757045_?)del	BMPR1A	Likely pathogenic	10	88514773	88516802	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_004329.3(BMPR1A):c.139G>T (p.Gly47Ter)	BMPR1A	Pathogenic	10	88649890	88649890	G	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_004329.3(BMPR1A):c.231-1G>C	BMPR1A	Likely pathogenic	10	88651883	88651883	G	C	criteria provided, single submitter	-
Duplication	NM_004329.3(BMPR1A):c.847dup (p.Met283fs)	BMPR1A	Pathogenic	10	88677060	88677061	T	TA	criteria provided, single submitter	-
Deletion	NM_004329.3(BMPR1A):c.869-2_871del	BMPR1A	Likely pathogenic	10	88678927	88678931	CAGGTT	C	criteria provided, single submitter	-
single nucleotide variant	NM_004329.3(BMPR1A):c.1374C>A (p.Tyr458Ter)	BMPR1A	Pathogenic	10	88683164	88683164	C	A	criteria provided, multiple submitters, no conflicts	-
Deletion	NC_000010.11:g.(?_86912230)_(86917336_?)del	BMPR1A	Pathogenic	10	88671987	88677093	na	na	criteria provided, single submitter	-
Duplication	NM_004329.3(BMPR1A):c.566dup (p.Tyr189Ter)	BMPR1A	Pathogenic	10	88672031	88672032	T	TA	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_004329.3(BMPR1A):c.674del (p.Leu225fs)	BMPR1A	Pathogenic	10	88672139	88672139	AT	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_004329.3(BMPR1A):c.176T>A (p.Leu59Ter)	BMPR1A	Pathogenic/Likely pathogenic	10	88649927	88649927	T	A	criteria provided, multiple submitters, no conflicts	-

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