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
single nucleotide variant	NM_000444.6(PHEX):c.436+6T>C	PHEX	Pathogenic	X	22094598	22094598	T	C	criteria provided, single submitter	ClinGen:CA645509372,LOVD 3:PHEX_000038,OMIM:300550.0011
single nucleotide variant	NM_000444.6(PHEX):c.467T>C (p.Leu156Pro)	PHEX	Pathogenic	X	22095624	22095624	T	C	criteria provided, single submitter	ClinGen:CA412571292
single nucleotide variant	NM_000444.6(PHEX):c.591A>G (p.Gln197=)	PHEX	Pathogenic/Likely pathogenic	X	22095748	22095748	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA515429669
single nucleotide variant	NM_000444.6(PHEX):c.621T>G (p.Tyr207Ter)	PHEX	Pathogenic	X	22095778	22095778	T	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA412571620
single nucleotide variant	NM_000444.6(PHEX):c.679C>A (p.Leu227Ile)	PHEX	Pathogenic	X	22108562	22108562	C	A	criteria provided, single submitter	ClinGen:CA412572024
Deletion	NM_000444.6(PHEX):c.704del (p.Tyr235fs)	PHEX	Pathogenic	X	22108587	22108587	TA	T	criteria provided, single submitter	ClinGen:CA645509374
single nucleotide variant	NM_000444.6(PHEX):c.707T>C (p.Leu236Pro)	PHEX	Pathogenic	X	22108590	22108590	T	C	criteria provided, single submitter	ClinGen:CA412572084
single nucleotide variant	NM_000444.6(PHEX):c.732+5G>C	PHEX	Pathogenic	X	22108620	22108620	G	C	criteria provided, single submitter	ClinGen:CA645509376
single nucleotide variant	NM_000444.6(PHEX):c.832G>T (p.Glu278Ter)	PHEX	Pathogenic	X	22112200	22112200	G	T	criteria provided, single submitter	ClinGen:CA412572474
single nucleotide variant	NM_000444.6(PHEX):c.933+1G>T	PHEX	Pathogenic	X	22115157	22115157	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA412572721

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