X染色体連鎖性低リン血症性くる病 - MGenReviews

X染色体連鎖性低リン血症性くる病

小児・神経疾患

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
Indel	NM_000444.6(PHEX):c.934-3_934-1delinsTCA	PHEX	Pathogenic	X	22117121	22117123	CAG	TCA	criteria provided, single submitter	ClinGen:CA645509377
single nucleotide variant	NM_000444.6(PHEX):c.1022T>A (p.Val341Asp)	PHEX	Pathogenic	X	22117212	22117212	T	A	criteria provided, single submitter	ClinGen:CA412572930
Deletion	NM_000444.6(PHEX):c.1044del (p.Asp349fs)	PHEX	Pathogenic	X	22117232	22117232	TA	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA645509378
single nucleotide variant	NM_000444.6(PHEX):c.1103G>A (p.Trp368Ter)	PHEX	Pathogenic	X	22129608	22129608	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA412573124
Deletion	NM_000444.6(PHEX):c.1134del (p.Ser379fs)	PHEX	Pathogenic	X	22129638	22129638	CT	C	criteria provided, single submitter	ClinGen:CA645509380
Indel	NM_000444.6(PHEX):c.1137_1138delinsAT (p.Ser379_Arg380delinsArgTrp)	PHEX	Pathogenic	X	22129642	22129643	CA	AT	criteria provided, single submitter	ClinGen:CA645509381
single nucleotide variant	NM_000444.6(PHEX):c.1216T>C (p.Cys406Arg)	PHEX	Pathogenic	X	22132618	22132618	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA412573387
Deletion	NM_000444.6(PHEX):c.1269del (p.Asp424fs)	PHEX	Pathogenic	X	22132671	22132671	TA	T	criteria provided, single submitter	ClinGen:CA645509382
single nucleotide variant	NM_000444.6(PHEX):c.1297G>T (p.Glu433Ter)	PHEX	Pathogenic	X	22132699	22132699	G	T	criteria provided, single submitter	ClinGen:CA412573786
Duplication	NC_000023.11:g.22130083_22232038dup	PHEX	Pathogenic	X	22148200	22250155	na	na	criteria provided, single submitter	-

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