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
Duplication	NM_000444.6(PHEX):c.1986_1989dup (p.Arg664Ter)	PHEX	Pathogenic	X	22245643	22245644	A	ATGAC	criteria provided, multiple submitters, no conflicts	ClinGen:CA645509397
single nucleotide variant	NM_000444.6(PHEX):c.2044C>T (p.Gln682Ter)	PHEX	Pathogenic	X	22245702	22245702	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA412574455
Deletion	Single allele	PHEX	Pathogenic	X	22246947	22265379	na	na	criteria provided, single submitter	-
Deletion	NC_000023.10:g.22256748_22370988del114241	PHEX	Pathogenic	X	22256748	22370988	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_000444.6(PHEX):c.2078G>A (p.Cys693Tyr)	PHEX	Pathogenic	X	22263457	22263457	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA412575179
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.2147+3A>T	PHEX	Pathogenic	X	22263529	22263529	A	T	criteria provided, single submitter	ClinGen:CA645509399
single nucleotide variant	NM_000444.6(PHEX):c.2148-2A>G	PHEX	Pathogenic	X	22265966	22265966	A	G	criteria provided, single submitter	ClinGen:CA412575338
single nucleotide variant	NM_000444.6(PHEX):c.2198G>C (p.Cys733Ser)	PHEX	Pathogenic	X	22266018	22266018	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA412575461
Duplication	NM_000444.6(PHEX):c.2199_2217dup (p.Asn740fs)	PHEX	Pathogenic	X	22266016	22266017	C	CTGTCCACCCAATTCCACGA	criteria provided, single submitter	ClinGen:CA645509400

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