極長鎖アシルCoA脱水素酵素欠損症

小児・神経疾患

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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.33del (p.Arg12fs)	ACADVL	Likely pathogenic	17	7123333	7123333	TG	T	criteria provided, single submitter	-
Deletion	NM_000018.4(ACADVL):c.1752-2del	ACADVL	Likely pathogenic	17	7128126	7128126	CA	C	criteria provided, single submitter	ClinGen:CA658798687
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
Deletion	NM_000018.4(ACADVL):c.864del (p.Phe288fs)	ACADVL	Likely pathogenic	17	7125607	7125607	TC	T	reviewed by expert panel	ClinGen:CA658798685
Deletion	NM_000018.4(ACADVL):c.708_709del (p.Cys237fs)	ACADVL	Pathogenic/Likely pathogenic	17	7125356	7125357	CCT	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA658683975
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.342+1G>C	ACADVL	Pathogenic	17	7124150	7124150	G	C	reviewed by expert panel	ClinGen:CA397722627
single nucleotide variant	NM_000018.4(ACADVL):c.1313G>A (p.Gly438Glu)	ACADVL	Likely pathogenic	17	7127175	7127175	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA397724846
single nucleotide variant	NM_000018.4(ACADVL):c.1253G>A (p.Ser418Asn)	ACADVL	Pathogenic	17	7127033	7127033	G	A	criteria provided, single submitter	ClinGen:CA397724694