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

1
...
15
16
17
18
19
...
25

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
Duplication	NM_000444.6(PHEX):c.78dup (p.Val27fs)	PHEX	Pathogenic	X	22051198	22051199	G	GT	criteria provided, single submitter	ClinGen:CA645509368
single nucleotide variant	NM_000444.6(PHEX):c.119-3C>G	PHEX	Pathogenic	X	22056584	22056584	C	G	criteria provided, single submitter	ClinGen:CA645509369
single nucleotide variant	NM_000444.6(PHEX):c.142C>T (p.Gln48Ter)	PHEX	Pathogenic	X	22056610	22056610	C	T	criteria provided, single submitter	ClinGen:CA412564842
single nucleotide variant	NM_000444.6(PHEX):c.181G>T (p.Glu61Ter)	PHEX	Pathogenic	X	22056649	22056649	G	T	criteria provided, single submitter	ClinGen:CA412566013
single nucleotide variant	NM_000444.6(PHEX):c.187+1G>T	PHEX	Pathogenic	X	22056656	22056656	G	T	criteria provided, single submitter	ClinGen:CA412566073
Deletion	NM_000444.6(PHEX):c.187+1del	PHEX	Pathogenic	X	22056654	22056654	CG	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA645509370
single nucleotide variant	NM_000444.6(PHEX):c.230G>T (p.Cys77Phe)	PHEX	Pathogenic	X	22065210	22065210	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA412567578
single nucleotide variant	NM_000444.6(PHEX):c.253T>C (p.Cys85Arg)	PHEX	Pathogenic	X	22065233	22065233	T	C	criteria provided, single submitter	ClinGen:CA412567630
single nucleotide variant	NM_000444.6(PHEX):c.415T>A (p.Tyr139Asn)	PHEX	Pathogenic	X	22094571	22094571	T	A	criteria provided, single submitter	ClinGen:CA412571162
Deletion	NM_000444.6(PHEX):c.424del (p.Cys142fs)	PHEX	Pathogenic	X	22094580	22094580	CT	C	criteria provided, single submitter	ClinGen:CA645509371

1
...
15
16
17
18
19
...
25