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

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
Deletion	NM_000478.6(ALPL):c.18del (p.Val7fs)	ALPL	Pathogenic	1	21880592	21880592	TA	T	criteria provided, single submitter	-
single nucleotide variant	NM_000478.6(ALPL):c.87G>A (p.Trp29Ter)	ALPL	Likely pathogenic	1	21887144	21887144	G	A	criteria provided, single submitter	-
Duplication	NM_001177520.3(ALPL):c.66+353dup	ALPL	Pathogenic/Likely pathogenic	1	21887588	21887589	A	AG	criteria provided, multiple submitters, no conflicts	-
Duplication	NM_000478.6(ALPL):c.225_228dup (p.Leu77fs)	ALPL	Pathogenic/Likely pathogenic	1	21887631	21887632	G	GGTCA	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000478.6(ALPL):c.862+1G>A	ALPL	Likely pathogenic	1	21896868	21896868	G	A	criteria provided, single submitter	-
single nucleotide variant	NM_000478.6(ALPL):c.1039C>T (p.Gln347Ter)	ALPL	Likely pathogenic	1	21902267	21902267	C	T	criteria provided, single submitter	-
Deletion	NM_000478.6(ALPL):c.427del (p.Gln143fs)	ALPL	Likely pathogenic	1	21889730	21889730	AC	A	criteria provided, single submitter	-
Deletion	NM_000478.6(ALPL):c.392del (p.Ser131fs)	ALPL	Pathogenic/Likely pathogenic	1	21889697	21889697	AG	A	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_000478.6(ALPL):c.1216_1219del (p.Asp406fs)	ALPL	Likely pathogenic	1	21903038	21903041	CACAG	C	criteria provided, single submitter	-
single nucleotide variant	NM_000478.6(ALPL):c.1324C>T (p.Gln442Ter)	ALPL	Likely pathogenic	1	21903890	21903890	C	T	criteria provided, single submitter	-

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