肺動脈性肺高血圧症 - MGenReviews

肺動脈性肺高血圧症

疾患の紹介

病的バリアントリスト

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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_000012.12:g.(?_51913539)_(51919135_?)del	ACVRL1	Pathogenic	12	52307323	52312919	na	na	criteria provided, single submitter	-
Deletion	NC_000012.12:g.(?_51913079)_(51913790_?)del	ACVRL1	Pathogenic	12	52306863	52307574	na	na	criteria provided, single submitter	-
Deletion	NC_000012.12:g.(?_51913954)_(51919135_?)del	ACVRL1	Pathogenic	12	52307738	52312919	na	na	criteria provided, single submitter	-
Deletion	NC_000012.12:g.(?_51920739)_(51920913_?)del	ACVRL1	Pathogenic	12	52314523	52314697	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_000020.3(ACVRL1):c.206G>T (p.Cys69Phe)	ACVRL1	Pathogenic/Likely pathogenic	12	52307027	52307027	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA384897900
single nucleotide variant	NM_000020.3(ACVRL1):c.265T>G (p.Cys89Gly)	ACVRL1	Likely pathogenic	12	52307086	52307086	T	G	criteria provided, single submitter	ClinGen:CA384898032
single nucleotide variant	NM_000020.3(ACVRL1):c.925G>A (p.Gly309Ser)	ACVRL1	Pathogenic	12	52309161	52309161	G	A	criteria provided, single submitter	ClinGen:CA384901046
single nucleotide variant	NM_000020.3(ACVRL1):c.58C>T (p.Gln20Ter)	ACVRL1	Pathogenic	12	52306316	52306316	C	T	criteria provided, single submitter	ClinGen:CA384896740
single nucleotide variant	NM_000020.3(ACVRL1):c.1313T>C (p.Met438Thr)	ACVRL1	Likely pathogenic	12	52312835	52312835	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA384904048
single nucleotide variant	NM_000020.3(ACVRL1):c.1377+2T>G	ACVRL1	Pathogenic	12	52312901	52312901	T	G	criteria provided, single submitter	ClinGen:CA384904889

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