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.1253G>A (p.Ser418Asn)	ACADVL	Pathogenic	17	7127033	7127033	G	A	criteria provided, single submitter	ClinGen:CA397724694
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.1220G>C (p.Gly407Ala)	ACADVL	Likely pathogenic	17	7127000	7127000	G	C	reviewed by expert panel	ClinGen:CA287439291
single nucleotide variant	NM_000018.4(ACADVL):c.1183-1G>A	ACADVL	Likely pathogenic	17	7126962	7126962	G	A	criteria provided, single submitter	ClinGen:CA16041871
single nucleotide variant	NM_000018.4(ACADVL):c.1183-15A>G	ACADVL	Pathogenic/Likely pathogenic	17	7126948	7126948	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA8338032
single nucleotide variant	NM_000018.4(ACADVL):c.1182+2T>C	ACADVL	Likely pathogenic	17	7126558	7126558	T	C	criteria provided, single submitter	-
single nucleotide variant	NM_000018.4(ACADVL):c.1182+1G>A	ACADVL	Pathogenic/Likely pathogenic	17	7126557	7126557	G	A	criteria provided, multiple submitters, no conflicts	OMIM:609575.0002
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
Deletion	NM_000018.4(ACADVL):c.1141_1143del (p.Glu381del)	ACADVL	Pathogenic	17	7126513	7126515	CAGG	C	reviewed by expert panel	ClinGen:CA16041870
Deletion	NM_000018.4(ACADVL):c.1113del (p.Ile373fs)	ACADVL	Pathogenic/Likely pathogenic	17	7126487	7126487	AG	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16041869