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.848T>C (p.Val283Ala)	ACADVL	Pathogenic	17	7125591	7125591	T	C	reviewed by expert panel	ClinGen:CA285294,UniProtKB:P49748#VAR_000342
single nucleotide variant	NM_000018.4(ACADVL):c.779C>T (p.Thr260Met)	ACADVL	Pathogenic/Likely pathogenic	17	7125522	7125522	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA341526,UniProtKB:P49748#VAR_000339
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.1322G>A (p.Gly441Asp)	ACADVL	Pathogenic	17	7127184	7127184	G	A	reviewed by expert panel	ClinGen:CA220193,UniProtKB:P49748#VAR_000354,OMIM:609575.0009
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
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
single nucleotide variant	NM_000018.4(ACADVL):c.1144A>C (p.Lys382Gln)	ACADVL	Likely pathogenic	17	7126518	7126518	A	C	reviewed by expert panel	ClinGen:CA251906,UniProtKB:P49748#VAR_000352,OMIM:609575.0008