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

Excelでダウンロード

1
...
3
4
5
6
7
...
10

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.743C>T (p.Pro248Leu)	GCDH	Pathogenic/Likely pathogenic	19	13007126	13007126	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16041971
Deletion	NM_000159.4(GCDH):c.848del (p.Leu283fs)	GCDH	Pathogenic/Likely pathogenic	19	13007231	13007231	CT	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA9234504
single nucleotide variant	NM_000159.4(GCDH):c.853-2A>G	GCDH	Likely pathogenic	19	13007722	13007722	A	G	criteria provided, single submitter	ClinGen:CA16041972
Deletion	NM_000159.4(GCDH):c.873del (p.Asn291fs)	GCDH	Likely pathogenic	19	13007744	13007744	AC	A	criteria provided, single submitter	ClinGen:CA16041973
single nucleotide variant	NM_000159.4(GCDH):c.1169G>C (p.Gly390Ala)	GCDH	Likely pathogenic	19	13008603	13008603	G	C	criteria provided, single submitter	ClinGen:CA16041974
Deletion	NM_000159.4(GCDH):c.1173del (p.Asn392fs)	GCDH	Pathogenic/Likely pathogenic	19	13008601	13008601	TG	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA9234625
single nucleotide variant	NM_000159.4(GCDH):c.764C>T (p.Ser255Leu)	GCDH	Pathogenic/Likely pathogenic	19	13007147	13007147	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA9234481
single nucleotide variant	NM_000159.4(GCDH):c.395G>A (p.Arg132Gln)	GCDH	Pathogenic/Likely pathogenic	19	13004357	13004357	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16608038
single nucleotide variant	NM_000159.4(GCDH):c.1156C>G (p.Arg386Gly)	GCDH	Pathogenic/Likely pathogenic	19	13008590	13008590	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA16608043
single nucleotide variant	NM_000159.4(GCDH):c.281G>A (p.Arg94Gln)	GCDH	Pathogenic/Likely pathogenic	19	13002939	13002939	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA9234312

1
...
3
4
5
6
7
...
10