極長鎖アシルCoA脱水素酵素欠損症 - MGenReviews

極長鎖アシルCoA脱水素酵素欠損症

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_000018.4(ACADVL):c.199A>T (p.Lys67Ter)	ACADVL	Likely pathogenic	17	7123843	7123843	A	T	reviewed by expert panel	-
single nucleotide variant	NM_000018.4(ACADVL):c.566T>C (p.Ile189Thr)	ACADVL	Likely pathogenic	17	7124945	7124945	T	C	criteria provided, single submitter	-
Deletion	NM_000018.4(ACADVL):c.1102_1103del (p.Gln368fs)	ACADVL	Likely pathogenic	17	7126476	7126477	CCA	C	reviewed by expert panel	-
single nucleotide variant	NM_000018.4(ACADVL):c.1751+1G>A	ACADVL	Likely pathogenic	17	7128034	7128034	G	A	criteria provided, multiple submitters, no conflicts	-
Duplication	NM_000018.4(ACADVL):c.307_323dup (p.Val109fs)	ACADVL	Likely pathogenic	17	7124113	7124114	T	TAAAGAGCTGGTGGAGCC	reviewed by expert panel	-
Deletion	NM_000018.4(ACADVL):c.552del (p.Ile184fs)	ACADVL	Pathogenic	17	7124931	7124931	TC	T	reviewed by expert panel	-
single nucleotide variant	NM_000018.4(ACADVL):c.1294G>T (p.Glu432Ter)	ACADVL	Likely pathogenic	17	7127156	7127156	G	T	reviewed by expert panel	-
single nucleotide variant	NM_000018.4(ACADVL):c.1332G>A (p.Lys444=)	ACADVL	Likely pathogenic	17	7127194	7127194	G	A	criteria provided, single submitter	-
Duplication	NM_000018.4(ACADVL):c.1368dup (p.Ile457fs)	ACADVL	Likely pathogenic	17	7127321	7127322	G	GC	reviewed by expert panel	-
single nucleotide variant	NM_000018.4(ACADVL):c.1751+2T>C	ACADVL	Likely pathogenic	17	7128035	7128035	T	C	criteria provided, single submitter	-

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