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.2138del (p.Pro713fs)	PHEX	Likely pathogenic	X	22263513	22263513	TC	T	criteria provided, single submitter	ClinGen:CA16621342
Deletion	NM_000444.6(PHEX):c.2147+2_2147+9del	PHEX	Pathogenic	X	22263526	22263533	AGGTAAATG	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16621343
single nucleotide variant	NM_000444.6(PHEX):c.2197T>C (p.Cys733Arg)	PHEX	Pathogenic	X	22266017	22266017	T	C	criteria provided, single submitter	ClinGen:CA16621344
single nucleotide variant	NM_000444.6(PHEX):c.312T>G (p.Tyr104Ter)	PHEX	Pathogenic	X	22065292	22065292	T	G	criteria provided, single submitter	ClinGen:CA412567767
single nucleotide variant	NM_000444.6(PHEX):c.611T>A (p.Ile204Asn)	PHEX	Likely pathogenic	X	22095768	22095768	T	A	criteria provided, single submitter	ClinGen:CA412571603
single nucleotide variant	NM_000444.6(PHEX):c.1645+5G>C	PHEX	Likely pathogenic	X	22208624	22208624	G	C	criteria provided, single submitter	ClinGen:CA645293924
single nucleotide variant	NM_000444.6(PHEX):c.1809G>A (p.Trp603Ter)	PHEX	Pathogenic	X	22239770	22239770	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA412573594
single nucleotide variant	NM_000444.6(PHEX):c.1880G>A (p.Trp627Ter)	PHEX	Pathogenic	X	22239841	22239841	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA412573880
single nucleotide variant	NM_000444.6(PHEX):c.118+1G>T	PHEX	Pathogenic	X	22051242	22051242	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA412564385
single nucleotide variant	NM_000444.6(PHEX):c.664-2A>C	PHEX	Likely pathogenic	X	22108545	22108545	A	C	criteria provided, single submitter	ClinGen:CA412571986

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