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.848T>C (p.Val283Ala)	ACADVL	Pathogenic	17	7125591	7125591	T	C	reviewed by expert panel	ClinGen:CA285294,UniProtKB:P49748#VAR_000342
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.1406G>A (p.Arg469Gln)	ACADVL	Likely pathogenic	17	7127360	7127360	G	A	reviewed by expert panel	ClinGen:CA220197,UniProtKB:P49748#VAR_000361
single nucleotide variant	NM_000018.4(ACADVL):c.1700G>A (p.Arg567Gln)	ACADVL	Pathogenic/Likely pathogenic	17	7127982	7127982	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA285290
single nucleotide variant	NM_000018.4(ACADVL):c.520G>A (p.Val174Met)	ACADVL	Pathogenic/Likely pathogenic	17	7124899	7124899	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA220213,UniProtKB:P49748#VAR_000334
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.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.65C>A (p.Ser22Ter)	ACADVL	Pathogenic	17	7123443	7123443	C	A	reviewed by expert panel	ClinGen:CA233425
single nucleotide variant	NM_000018.4(ACADVL):c.1532+1G>A	ACADVL	Pathogenic	17	7127563	7127563	G	A	criteria provided, single submitter	ClinGen:CA273297
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