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.1174-2A>G	PHEX	Pathogenic	X	22132574	22132574	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA16621321
Deletion	NM_000444.6(PHEX):c.1202del (p.Pro401fs)	PHEX	Pathogenic	X	22132603	22132603	GC	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA16621322
single nucleotide variant	NM_000444.6(PHEX):c.1482+1G>A	PHEX	Pathogenic/Likely pathogenic	X	22186507	22186507	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16621324
Deletion	NM_000444.6(PHEX):c.1525del (p.Thr509fs)	PHEX	Pathogenic	X	22196430	22196430	CA	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA16621325
single nucleotide variant	NM_000444.6(PHEX):c.1586+1G>T	PHEX	Pathogenic	X	22196494	22196494	G	T	criteria provided, single submitter	ClinGen:CA16621326
Duplication	NM_000444.6(PHEX):c.1593dup (p.Thr532fs)	PHEX	Pathogenic	X	22208564	22208565	G	GT	criteria provided, single submitter	ClinGen:CA16621327
single nucleotide variant	NM_000444.6(PHEX):c.1658G>A (p.Gly553Glu)	PHEX	Pathogenic/Likely pathogenic	X	22231033	22231033	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16621328
single nucleotide variant	NM_000444.6(PHEX):c.1660G>T (p.Glu554Ter)	PHEX	Pathogenic	X	22231035	22231035	G	T	criteria provided, single submitter	ClinGen:CA16621329
Duplication	NM_000444.6(PHEX):c.1706dup (p.Ser570fs)	PHEX	Pathogenic	X	22237157	22237158	C	CT	criteria provided, single submitter	ClinGen:CA16621330
single nucleotide variant	NM_000444.6(PHEX):c.1714G>A (p.Gly572Ser)	PHEX	Pathogenic/Likely pathogenic	X	22237166	22237166	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16621331

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