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
single nucleotide variant	NM_000444.6(PHEX):c.759G>A (p.Met253Ile)	PHEX	Likely pathogenic	X	22112127	22112127	G	A	criteria provided, single submitter	ClinVar:10818,UniProtKB:P78562#VAR_006743,OMIM:300550.0006
single nucleotide variant	NM_000444.6(PHEX):c.1404+2T>G	PHEX	Likely pathogenic	X	22151743	22151743	T	G	criteria provided, single submitter	ClinGen:CA260501
single nucleotide variant	NM_000444.6(PHEX):c.349+1G>C	PHEX	Likely pathogenic	X	22065330	22065330	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA260510
Duplication	NM_000444.6(PHEX):c.884_885dup (p.Met296fs)	PHEX	Likely pathogenic	X	22115106	22115107	G	GCC	criteria provided, single submitter	ClinGen:CA260511
single nucleotide variant	NM_000444.6(PHEX):c.1736G>T (p.Gly579Val)	PHEX	Likely pathogenic	X	22237188	22237188	G	T	criteria provided, single submitter	ClinGen:CA16043217
single nucleotide variant	NM_000444.6(PHEX):c.2237G>T (p.Cys746Phe)	PHEX	Likely pathogenic	X	22266057	22266057	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16043228
single nucleotide variant	NM_000444.6(PHEX):c.1313T>C (p.Leu438Ser)	PHEX	Likely pathogenic	X	22151650	22151650	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA16043231
single nucleotide variant	NM_000444.6(PHEX):c.2159C>A (p.Ala720Glu)	PHEX	Likely pathogenic	X	22265979	22265979	C	A	criteria provided, single submitter	ClinGen:CA16043249
single nucleotide variant	NM_000444.6(PHEX):c.1586+6T>G	PHEX	Likely pathogenic	X	22196499	22196499	T	G	criteria provided, single submitter	ClinGen:CA16043257
single nucleotide variant	NM_000444.6(PHEX):c.436+1G>C	PHEX	Likely pathogenic	X	22094593	22094593	G	C	criteria provided, single submitter	ClinGen:CA16043304

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