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.1406G>A (p.Arg469Gln)	ACADVL	Likely pathogenic	17	7127360	7127360	G	A	reviewed by expert panel	ClinGen:CA220197,UniProtKB:P49748#VAR_000361
Duplication	NM_000018.4(ACADVL):c.1389dup (p.Thr464fs)	ACADVL	Likely pathogenic	17	7127339	7127340	A	AG	reviewed by expert panel	ClinGen:CA220196
single nucleotide variant	NM_000018.4(ACADVL):c.1376G>A (p.Arg459Gln)	ACADVL	Pathogenic	17	7127330	7127330	G	A	reviewed by expert panel	ClinGen:CA312275
Duplication	NM_000018.3(ACADVL):c.1375dup	ACADVL	Likely pathogenic	17	7127327	7127328	T	TC	reviewed by expert panel	ClinGen:CA312288
single nucleotide variant	NM_000018.4(ACADVL):c.1372T>C (p.Phe458Leu)	ACADVL	Likely pathogenic	17	7127326	7127326	T	C	reviewed by expert panel	ClinGen:CA251907,UniProtKB:P49748#VAR_010103,OMIM:609575.0012
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.1358G>A (p.Arg453Gln)	ACADVL	Likely pathogenic	17	7127312	7127312	G	A	reviewed by expert panel	ClinGen:CA8338089
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.1355dup (p.Arg453fs)	ACADVL	Likely pathogenic	17	7127308	7127309	C	CT	criteria provided, single submitter	ClinGen:CA16041874
single nucleotide variant	NM_000018.4(ACADVL):c.1349G>A (p.Arg450His)	ACADVL	Likely pathogenic	17	7127303	7127303	G	A	reviewed by expert panel	ClinGen:CA251910,UniProtKB:P49748#VAR_000355,OMIM:609575.0010,OMIM:609575.0014