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.1832G>A (p.Gly611Asp)	GAA	Likely pathogenic	17	78086454	78086454	G	A	reviewed by expert panel	ClinGen:CA16041897
single nucleotide variant	NM_000152.5(GAA):c.1856G>A (p.Ser619Asn)	GAA	Pathogenic/Likely pathogenic	17	78086478	78086478	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA8815500
single nucleotide variant	NM_000152.5(GAA):c.2015G>A (p.Arg672Gln)	GAA	Likely pathogenic	17	78086801	78086801	G	A	reviewed by expert panel	ClinGen:CA8815566
single nucleotide variant	NM_000152.5(GAA):c.2040+1G>T	GAA	Pathogenic/Likely pathogenic	17	78086827	78086827	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16041898
Deletion	NM_000152.5(GAA):c.2185del (p.Leu729fs)	GAA	Pathogenic	17	78087160	78087160	TC	T	reviewed by expert panel	ClinGen:CA16041899
single nucleotide variant	NM_000152.5(GAA):c.2213G>A (p.Trp738Ter)	GAA	Pathogenic/Likely pathogenic	17	78090790	78090790	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16041900
single nucleotide variant	NM_000152.5(GAA):c.2214G>A (p.Trp738Ter)	GAA	Pathogenic	17	78090791	78090791	G	A	reviewed by expert panel	ClinGen:CA16041901
single nucleotide variant	NM_000152.5(GAA):c.2227C>T (p.Gln743Ter)	GAA	Pathogenic/Likely pathogenic	17	78090804	78090804	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16041902
single nucleotide variant	NM_000152.5(GAA):c.2238G>A (p.Trp746Ter)	GAA	Pathogenic	17	78090815	78090815	G	A	reviewed by expert panel	ClinGen:CA8815666
single nucleotide variant	NM_000152.5(GAA):c.2242G>T (p.Glu748Ter)	GAA	Pathogenic	17	78090819	78090819	G	T	reviewed by expert panel	ClinGen:CA16041903

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