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
single nucleotide variant	NM_000018.4(ACADVL):c.685C>T (p.Arg229Ter)	ACADVL	Pathogenic/Likely pathogenic	17	7125333	7125333	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA274078
Deletion	NM_000018.4(ACADVL):c.887_888del (p.Pro296fs)	ACADVL	Likely pathogenic	17	7125994	7125995	CCT	C	reviewed by expert panel	ClinGen:CA274249
single nucleotide variant	NM_000018.4(ACADVL):c.1357C>T (p.Arg453Ter)	ACADVL	Pathogenic	17	7127311	7127311	C	T	reviewed by expert panel	ClinGen:CA274997
Duplication	NM_000018.4(ACADVL):c.210dup (p.Lys71Ter)	ACADVL	Likely pathogenic	17	7123927	7123928	C	CT	reviewed by expert panel	ClinGen:CA312282
single nucleotide variant	NM_000018.4(ACADVL):c.343-1G>A	ACADVL	Pathogenic	17	7124242	7124242	G	A	reviewed by expert panel	-
single nucleotide variant	NM_000018.4(ACADVL):c.427G>A (p.Gly143Ser)	ACADVL	Likely pathogenic	17	7124327	7124327	G	A	criteria provided, single submitter	-
single nucleotide variant	NM_000018.4(ACADVL):c.553G>A (p.Gly185Ser)	ACADVL	Likely pathogenic	17	7124932	7124932	G	A	reviewed by expert panel	ClinGen:CA312291,UniProtKB:P49748#VAR_000335
single nucleotide variant	NM_000018.4(ACADVL):c.1097G>A (p.Arg366His)	ACADVL	Likely pathogenic	17	7126471	7126471	G	A	reviewed by expert panel	ClinVar:867229,ClinGen:CA312265,UniProtKB:P49748#VAR_000350
Duplication	NM_000018.4(ACADVL):c.1316dup (p.Met440fs)	ACADVL	Likely pathogenic	17	7127172	7127173	T	TG	reviewed by expert panel	ClinGen:CA312287
Duplication	NM_000018.3(ACADVL):c.1375dup	ACADVL	Likely pathogenic	17	7127327	7127328	T	TC	reviewed by expert panel	ClinGen:CA312288