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
Deletion	NM_000444.6(PHEX):c.508_529del (p.Leu170fs)	PHEX	Pathogenic	X	22095663	22095684	GTGCTTGAATCTAATATTGGCCC	G	criteria provided, single submitter	ClinGen:CA10603555
single nucleotide variant	NM_000444.6(PHEX):c.733-2A>T	PHEX	Pathogenic	X	22112099	22112099	A	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10603557
single nucleotide variant	NM_000444.6(PHEX):c.733-1G>A	PHEX	Pathogenic	X	22112100	22112100	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10603559
Deletion	NM_000444.6(PHEX):c.847_849+2del	PHEX	Pathogenic	X	22112214	22112218	CTGAGG	C	criteria provided, single submitter	ClinGen:CA10603563
single nucleotide variant	NM_000444.6(PHEX):c.1080-1G>A	PHEX	Pathogenic	X	22129584	22129584	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10603569
single nucleotide variant	NM_000444.6(PHEX):c.1158G>A (p.Trp386Ter)	PHEX	Pathogenic	X	22129663	22129663	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10603574
single nucleotide variant	NM_000444.6(PHEX):c.1601C>T (p.Pro534Leu)	PHEX	Pathogenic	X	22208575	22208575	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10603575,UniProtKB:P78562#VAR_006744
single nucleotide variant	NM_000444.6(PHEX):c.1645+1G>A	PHEX	Pathogenic	X	22208620	22208620	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10603576
Duplication	NM_000444.6(PHEX):c.1800dup (p.Pro601fs)	PHEX	Pathogenic	X	22239760	22239761	A	AT	criteria provided, single submitter	ClinGen:CA10603577
single nucleotide variant	NM_000444.6(PHEX):c.2147+1G>A	PHEX	Pathogenic	X	22263527	22263527	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10603578

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