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.1768+5G>T	PHEX	Likely pathogenic	X	22237225	22237225	G	T	criteria provided, single submitter	ClinGen:CA16609167
single nucleotide variant	NM_000444.6(PHEX):c.1900-1G>A	PHEX	Pathogenic/Likely pathogenic	X	22244559	22244559	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16609168
single nucleotide variant	NM_000444.6(PHEX):c.151C>T (p.Gln51Ter)	PHEX	Pathogenic	X	22056619	22056619	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16621305
Deletion	NM_000444.6(PHEX):c.152_162del (p.Gln51fs)	PHEX	Pathogenic	X	22056619	22056629	ACAGGAGTACTG	A	criteria provided, single submitter	ClinGen:CA16621306
single nucleotide variant	NM_000444.6(PHEX):c.419C>G (p.Ser140Ter)	PHEX	Pathogenic	X	22094575	22094575	C	G	criteria provided, single submitter	ClinGen:CA16621308
Deletion	NM_000444.6(PHEX):c.663+1_663+45del	PHEX	Pathogenic	X	22095819	22095863	AAGGTATAATGAGGACCCATTCATCTTCTTTGCTCAGTCCTAGATT	A	criteria provided, single submitter	ClinGen:CA16621312
single nucleotide variant	NM_000444.6(PHEX):c.670C>T (p.Gln224Ter)	PHEX	Pathogenic	X	22108553	22108553	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16621313
Duplication	NM_000444.6(PHEX):c.985dup (p.His329fs)	PHEX	Pathogenic	X	22117170	22117171	A	AC	criteria provided, multiple submitters, no conflicts	ClinGen:CA16621318
single nucleotide variant	NM_000444.6(PHEX):c.1147C>T (p.Gln383Ter)	PHEX	Pathogenic	X	22129652	22129652	C	T	criteria provided, single submitter	ClinGen:CA16621319
single nucleotide variant	NM_000444.6(PHEX):c.1173+1G>C	PHEX	Pathogenic	X	22129679	22129679	G	C	criteria provided, single submitter	ClinGen:CA16621320

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