極長鎖アシルCoA脱水素酵素欠損症

小児・神経疾患

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
Deletion	NM_000018.4(ACADVL):c.16_32del (p.Met6fs)	ACADVL	Likely pathogenic	17	7123317	7123333	CGGATGGCCGCGAGCTTG	C	criteria provided, single submitter	-
Deletion	NM_000018.4(ACADVL):c.33del (p.Arg12fs)	ACADVL	Likely pathogenic	17	7123333	7123333	TG	T	criteria provided, single submitter	-
single nucleotide variant	NM_000018.4(ACADVL):c.3G>A (p.Met1Ile)	ACADVL	Likely pathogenic	17	7123306	7123306	G	A	criteria provided, single submitter	-