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
Deletion	NM_000018.4(ACADVL):c.708_709del (p.Cys237fs)	ACADVL	Pathogenic/Likely pathogenic	17	7125356	7125357	CCT	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA658683975
single nucleotide variant	NM_000018.4(ACADVL):c.956C>A (p.Ser319Ter)	ACADVL	Pathogenic/Likely pathogenic	17	7126063	7126063	C	A	criteria provided, multiple submitters, no conflicts	-
Duplication	NM_000018.4(ACADVL):c.1043_1065dup (p.Ile356delinsTrpGlnValProTer)	ACADVL	Pathogenic/Likely pathogenic	17	7126148	7126149	C	CCTGGCAGGTACCATGAGAGGCAT	criteria provided, multiple submitters, no conflicts	-