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_000020.3(ACVRL1):c.1030T>C (p.Cys344Arg)	ACVRL1	Pathogenic/Likely pathogenic	12	52309266	52309266	T	C	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000020.3(ACVRL1):c.1031G>T (p.Cys344Phe)	ACVRL1	Pathogenic	12	52309267	52309267	G	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000020.3(ACVRL1):c.1046T>C (p.Leu349Pro)	ACVRL1	Pathogenic/Likely pathogenic	12	52309282	52309282	T	C	criteria provided, multiple submitters, no conflicts	-
Indel	NM_000020.3(ACVRL1):c.1188_1189delinsAA (p.Asp397Asn)	ACVRL1	Likely pathogenic	12	52309959	52309960	TG	AA	criteria provided, single submitter	-
single nucleotide variant	NM_000020.3(ACVRL1):c.1190A>T (p.Asp397Val)	ACVRL1	Likely pathogenic	12	52309961	52309961	A	T	criteria provided, single submitter	-
single nucleotide variant	NM_000020.3(ACVRL1):c.1416G>T (p.Trp472Cys)	ACVRL1	Pathogenic	12	52314581	52314581	G	T	criteria provided, single submitter	-
Deletion	NM_000020.3(ACVRL1):c.1428del (p.Ser477fs)	ACVRL1	Pathogenic	12	52314590	52314590	AC	A	criteria provided, single submitter	-
Deletion	NC_000002.12:g.(?_202513709)_(202520211_?)del	BMPR2	Pathogenic	2	203378432	203384934	na	na	criteria provided, single submitter	-
Deletion	NC_000002.12:g.(?_202513699)_(202530974_?)del	BMPR2	Pathogenic	2	203378422	203395697	na	na	criteria provided, single submitter	-
Deletion	NC_000012.12:g.(?_51912465)_(51920903_?)del	ACVRL1	Pathogenic	12	52306249	52314687	na	na	criteria provided, single submitter	-

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