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
Duplication	NM_000444.6(PHEX):c.1843dup (p.Thr615fs)	PHEX	Pathogenic	X	22239798	22239799	G	GA	criteria provided, multiple submitters, no conflicts	ClinGen:CA10603650
Duplication	NM_000444.6(PHEX):c.1854_1857dup (p.Asn620delinsAspTer)	PHEX	Pathogenic	X	22239813	22239814	A	ATGAT	criteria provided, multiple submitters, no conflicts	ClinGen:CA10603651
Duplication	NM_000444.6(PHEX):c.1935_1938dup (p.Asn647Ter)	PHEX	Pathogenic	X	22244594	22244595	C	CTGAT	criteria provided, multiple submitters, no conflicts	ClinGen:CA10603652
Deletion	NM_000444.6(PHEX):c.1989_1990del (p.Asp663fs)	PHEX	Pathogenic	X	22245646	22245647	GAC	G	criteria provided, single submitter	ClinGen:CA10603653
Duplication	NM_000444.6(PHEX):c.2048_2051dup (p.Phe685fs)	PHEX	Pathogenic	X	22245705	22245706	C	CTCTT	criteria provided, single submitter	ClinGen:CA10603654
single nucleotide variant	NM_000444.6(PHEX):c.2064T>A (p.Tyr688Ter)	PHEX	Pathogenic	X	22245722	22245722	T	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10603655
single nucleotide variant	NM_000444.6(PHEX):c.2071-1G>A	PHEX	Pathogenic	X	22263449	22263449	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10603657
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
single nucleotide variant	NM_000444.6(PHEX):c.664-1G>A	PHEX	Pathogenic/Likely pathogenic	X	22108546	22108546	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10603713
single nucleotide variant	NM_000444.6(PHEX):c.1367G>A (p.Trp456Ter)	PHEX	Pathogenic	X	22151704	22151704	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10603714

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