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
single nucleotide variant	NM_000018.4(ACADVL):c.3G>A (p.Met1Ile)	ACADVL	Likely pathogenic	17	7123306	7123306	G	A	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	-
Deletion	NM_000018.4(ACADVL):c.16_32del (p.Met6fs)	ACADVL	Likely pathogenic	17	7123317	7123333	CGGATGGCCGCGAGCTTG	C	criteria provided, single submitter	-
single nucleotide variant	NM_000018.4(ACADVL):c.62+6T>C	ACADVL	Likely pathogenic	17	7123371	7123371	T	C	criteria provided, single submitter	ClinGen:CA645372604
single nucleotide variant	NM_000018.4(ACADVL):c.63-2A>C	ACADVL	Likely pathogenic	17	7123439	7123439	A	C	reviewed by expert panel	ClinGen:CA397722016
single nucleotide variant	NM_000018.4(ACADVL):c.65C>A (p.Ser22Ter)	ACADVL	Pathogenic	17	7123443	7123443	C	A	reviewed by expert panel	ClinGen:CA233425
Deletion	NM_000018.4(ACADVL):c.104del (p.Pro35fs)	ACADVL	Pathogenic	17	7123480	7123480	GC	G	reviewed by expert panel	ClinGen:CA624861220
Deletion	NM_000018.4(ACADVL):c.103_112del (p.Pro35fs)	ACADVL	Likely pathogenic	17	7123474	7123483	GGCCCGGCCCT	G	reviewed by expert panel	ClinGen:CA658798683
single nucleotide variant	NM_000018.4(ACADVL):c.138+1G>A	ACADVL	Likely pathogenic	17	7123517	7123517	G	A	reviewed by expert panel	-
single nucleotide variant	NM_000018.4(ACADVL):c.138+2T>C	ACADVL	Likely pathogenic	17	7123518	7123518	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA16041857