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.337T>C (p.Tyr113His)	GCDH	Pathogenic/Likely pathogenic	19	13004299	13004299	T	C	criteria provided, multiple submitters, no conflicts	-
Duplication	NM_000159.4(GCDH):c.727_730dup (p.Gly244fs)	GCDH	Likely pathogenic	19	13007108	13007109	T	TGCGG	criteria provided, single submitter	-
single nucleotide variant	NM_000159.4(GCDH):c.1054C>T (p.Gln352Ter)	GCDH	Pathogenic	19	13008214	13008214	C	T	criteria provided, single submitter	-
Duplication	NM_000159.4(GCDH):c.1173dup (p.Asn392fs)	GCDH	Pathogenic/Likely pathogenic	19	13008600	13008601	T	TG	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000159.4(GCDH):c.751C>T (p.Gln251Ter)	GCDH	Pathogenic	19	13007134	13007134	C	T	criteria provided, single submitter	-
single nucleotide variant	NM_000159.4(GCDH):c.914C>T (p.Ser305Leu)	GCDH	Pathogenic/Likely pathogenic	19	13007785	13007785	C	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000159.4(GCDH):c.1118A>G (p.Asn373Ser)	GCDH	Likely pathogenic	19	13008552	13008552	A	G	criteria provided, single submitter	-
single nucleotide variant	NM_000159.4(GCDH):c.386A>C (p.Glu129Ala)	GCDH	Pathogenic	19	13004348	13004348	A	C	criteria provided, single submitter	-
single nucleotide variant	NM_000159.4(GCDH):c.553G>A (p.Gly185Arg)	GCDH	Pathogenic	19	13006853	13006853	G	A	criteria provided, single submitter	-
single nucleotide variant	NM_000159.4(GCDH):c.679C>T (p.Arg227Trp)	GCDH	Pathogenic	19	13007062	13007062	C	T	criteria provided, single submitter	-

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