グルタル酸血症1型 - MGenReviews

グルタル酸血症1型

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
single nucleotide variant	NM_000159.4(GCDH):c.262C>T (p.Arg88Cys)	GCDH	Pathogenic	19	13002779	13002779	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA274425,UniProtKB:Q92947#VAR_000366
single nucleotide variant	NM_000159.4(GCDH):c.271+1G>A	GCDH	Pathogenic/Likely pathogenic	19	13002789	13002789	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA274289
single nucleotide variant	NM_000159.4(GCDH):c.383G>A (p.Arg128Gln)	GCDH	Pathogenic/Likely pathogenic	19	13004345	13004345	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA274331
single nucleotide variant	NM_000159.4(GCDH):c.482G>A (p.Arg161Gln)	GCDH	Pathogenic/Likely pathogenic	19	13004444	13004444	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA273961,UniProtKB:Q92947#VAR_000375
single nucleotide variant	NM_000159.4(GCDH):c.533G>A (p.Gly178Glu)	GCDH	Pathogenic/Likely pathogenic	19	13006833	13006833	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA274254
single nucleotide variant	NM_000159.4(GCDH):c.769C>T (p.Arg257Trp)	GCDH	Pathogenic/Likely pathogenic	19	13007152	13007152	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA274064,UniProtKB:Q92947#VAR_000383
single nucleotide variant	NM_000159.4(GCDH):c.1060G>A (p.Gly354Ser)	GCDH	Pathogenic/Likely pathogenic	19	13008220	13008220	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA274169,UniProtKB:Q92947#VAR_000399
single nucleotide variant	NM_000159.4(GCDH):c.1147C>T (p.Arg383Cys)	GCDH	Pathogenic/Likely pathogenic	19	13008581	13008581	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA274040,UniProtKB:Q92947#VAR_000405
single nucleotide variant	NM_000159.4(GCDH):c.1205G>A (p.Arg402Gln)	GCDH	Pathogenic/Likely pathogenic	19	13008639	13008639	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA274253,UniProtKB:Q92947#VAR_000413
single nucleotide variant	NM_000159.4(GCDH):c.1239C>A (p.Tyr413Ter)	GCDH	Pathogenic/Likely pathogenic	19	13008673	13008673	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA274339

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