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
single nucleotide variant	NM_001204.7(BMPR2):c.1459G>T (p.Asp487Tyr)	BMPR2	Likely pathogenic	2	203417484	203417484	G	T	criteria provided, single submitter	ClinGen:CA324334
Duplication	NM_000020.3(ACVRL1):c.145dup (p.Ala49fs)	ACVRL1	Pathogenic	12	52306960	52306961	C	CG	criteria provided, multiple submitters, no conflicts	ClinGen:CA319771
single nucleotide variant	NM_000020.3(ACVRL1):c.152G>A (p.Cys51Tyr)	ACVRL1	Pathogenic	12	52306973	52306973	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA324720,UniProtKB:P37023#VAR_006205
single nucleotide variant	NM_000020.3(ACVRL1):c.200G>A (p.Arg67Gln)	ACVRL1	Pathogenic/Likely pathogenic	12	52307021	52307021	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA325011,UniProtKB:P37023#VAR_006206
single nucleotide variant	NM_000020.3(ACVRL1):c.269G>A (p.Cys90Tyr)	ACVRL1	Pathogenic/Likely pathogenic	12	52307090	52307090	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA320646
Deletion	NM_000020.3(ACVRL1):c.406_409del (p.Gly136fs)	ACVRL1	Pathogenic/Likely pathogenic	12	52307433	52307436	CTGGG	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA321394
single nucleotide variant	NM_000020.3(ACVRL1):c.430C>T (p.Arg144Ter)	ACVRL1	Pathogenic	12	52307459	52307459	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA321605
single nucleotide variant	NM_000020.3(ACVRL1):c.986G>A (p.Arg329His)	ACVRL1	Pathogenic/Likely pathogenic	12	52309222	52309222	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA321832
single nucleotide variant	NM_000020.3(ACVRL1):c.998G>T (p.Ser333Ile)	ACVRL1	Pathogenic	12	52309234	52309234	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA322708,UniProtKB:P37023#VAR_006210
Deletion	NM_000020.3(ACVRL1):c.1122del (p.Tyr375fs)	ACVRL1	Pathogenic	12	52309892	52309892	CG	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA320332

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