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
Duplication	NM_000018.4(ACADVL):c.210dup (p.Lys71Ter)	ACADVL	Likely pathogenic	17	7123927	7123928	C	CT	reviewed by expert panel	ClinGen:CA312282
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.433C>T (p.Gln145Ter)	ACADVL	Likely pathogenic	17	7124333	7124333	C	T	reviewed by expert panel	ClinGen:CA274436
single nucleotide variant	NM_000018.4(ACADVL):c.753-2A>C	ACADVL	Likely pathogenic	17	7125494	7125494	A	C	reviewed by expert panel	ClinGen:CA220220
single nucleotide variant	NM_000018.4(ACADVL):c.664G>A (p.Gly222Arg)	ACADVL	Likely pathogenic	17	7125312	7125312	G	A	reviewed by expert panel	ClinGen:CA220218
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.1679-6G>A	ACADVL	Likely pathogenic	17	7127955	7127955	G	A	reviewed by expert panel	ClinGen:CA312281
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
single nucleotide variant	NM_000018.4(ACADVL):c.1246G>A (p.Ala416Thr)	ACADVL	Likely pathogenic	17	7127026	7127026	G	A	reviewed by expert panel	ClinGen:CA251908,OMIM:609575.0013