低ホスファターゼ症 - MGenReviews

低ホスファターゼ症

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_000478.6(ALPL):c.1553_1568del (p.Tyr518fs)	ALPL	Pathogenic/Likely pathogenic	1	21904117	21904132	TCTACCCCCTGAGCGTC	T	criteria provided, multiple submitters, no conflicts	-
Duplication	NM_000478.6(ALPL):c.1017dup (p.His340fs)	ALPL	Pathogenic/Likely pathogenic	1	21902242	21902243	C	CG	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000478.6(ALPL):c.1471G>A (p.Gly491Arg)	ALPL	Pathogenic/Likely pathogenic	1	21904037	21904037	G	A	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_000478.6(ALPL):c.963del (p.Lys322fs)	ALPL	Likely pathogenic	1	21900257	21900257	CG	C	criteria provided, single submitter	-
single nucleotide variant	NM_000478.6(ALPL):c.1171C>T (p.Arg391Cys)	ALPL	Pathogenic/Likely pathogenic	1	21902399	21902399	C	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000478.6(ALPL):c.994G>T (p.Glu332Ter)	ALPL	Pathogenic	1	21900289	21900289	G	T	criteria provided, single submitter	-
single nucleotide variant	NM_000478.6(ALPL):c.395C>T (p.Ala132Val)	ALPL	Likely pathogenic	1	21889700	21889700	C	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000478.6(ALPL):c.1142A>G (p.His381Arg)	ALPL	Pathogenic/Likely pathogenic	1	21902370	21902370	A	G	criteria provided, multiple submitters, no conflicts	-
Duplication	NM_000478.6(ALPL):c.1182dup (p.Ile395fs)	ALPL	Pathogenic/Likely pathogenic	1	21902409	21902410	C	CT	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_000478.6(ALPL):c.1474del (p.Ala492fs)	ALPL	Pathogenic	1	21904037	21904037	CG	C	criteria provided, multiple submitters, no conflicts	-

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