糖原病II型 (ポンペ病) - MGenReviews

糖原病II型 (ポンペ病)

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
single nucleotide variant	NM_000152.5(GAA):c.1438-1G>C	GAA	Pathogenic	17	78084525	78084525	G	C	reviewed by expert panel	ClinGen:CA274472
single nucleotide variant	NM_000152.5(GAA):c.1441T>C (p.Trp481Arg)	GAA	Pathogenic/Likely pathogenic	17	78084529	78084529	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA274247,UniProtKB:P10253#VAR_004292
single nucleotide variant	NM_000152.5(GAA):c.1548G>A (p.Trp516Ter)	GAA	Pathogenic	17	78084636	78084636	G	A	reviewed by expert panel	ClinGen:CA274281
Duplication	NM_000152.5(GAA):c.1826dup (p.Tyr609Ter)	GAA	Pathogenic	17	78086447	78086448	T	TA	reviewed by expert panel	ClinGen:CA274414
Deletion	NM_000152.5(GAA):c.1827del (p.Arg608_Tyr609insTer)	GAA	Pathogenic	17	78086449	78086449	AC	A	reviewed by expert panel	ClinGen:CA274153
single nucleotide variant	NM_000152.5(GAA):c.1843G>A (p.Gly615Arg)	GAA	Likely pathogenic	17	78086465	78086465	G	A	reviewed by expert panel	ClinGen:CA273955,UniProtKB:P10253#VAR_008690
single nucleotide variant	NM_000152.5(GAA):c.1933G>A (p.Asp645Asn)	GAA	Pathogenic	17	78086719	78086719	G	A	reviewed by expert panel	ClinGen:CA273892,UniProtKB:P10253#VAR_004304
single nucleotide variant	NM_000152.5(GAA):c.1933G>C (p.Asp645His)	GAA	Pathogenic/Likely pathogenic	17	78086719	78086719	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA274256,UniProtKB:P10253#VAR_004303
single nucleotide variant	NM_000152.5(GAA):c.1942G>A (p.Gly648Ser)	GAA	Pathogenic	17	78086728	78086728	G	A	reviewed by expert panel	ClinGen:CA274102,UniProtKB:P10253#VAR_004306
single nucleotide variant	NM_000152.5(GAA):c.1979G>A (p.Arg660His)	GAA	Pathogenic	17	78086765	78086765	G	A	reviewed by expert panel	ClinGen:CA274455,UniProtKB:P10253#VAR_046477

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