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

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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.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.2147+3A>T	PHEX	Pathogenic	X	22263529	22263529	A	T	criteria provided, single submitter	ClinGen:CA645509399
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
single nucleotide variant	NM_000444.6(PHEX):c.2140C>T (p.Gln714Ter)	PHEX	Likely pathogenic	X	22263519	22263519	C	T	criteria provided, single submitter	-
Deletion	NM_000444.6(PHEX):c.2138del (p.Pro713fs)	PHEX	Likely pathogenic	X	22263513	22263513	TC	T	criteria provided, single submitter	ClinGen:CA16621342
Duplication	NM_000444.6(PHEX):c.2138dup (p.Gln714fs)	PHEX	Pathogenic/Likely pathogenic	X	22263512	22263513	T	TC	criteria provided, multiple submitters, no conflicts	ClinGen:CA10603658
Deletion	NM_000444.6(PHEX):c.2118_2119del (p.Gln706fs)	PHEX	Pathogenic/Likely pathogenic	X	22263496	22263497	CAA	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA16621341
single nucleotide variant	NM_000444.6(PHEX):c.2104C>T (p.Arg702Ter)	PHEX	Pathogenic	X	22263483	22263483	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10603719
Deletion	NM_000444.6(PHEX):c.2093del (p.Pro698fs)	PHEX	Pathogenic	X	22263471	22263471	AC	A	criteria provided, single submitter	ClinGen:CA645509398
single nucleotide variant	NM_000444.6(PHEX):c.2079C>G (p.Cys693Trp)	PHEX	Likely pathogenic	X	22263458	22263458	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA16621340

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