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.205-2A>G	ACADVL	Likely pathogenic	17	7123921	7123921	A	G	criteria provided, single submitter	-
single nucleotide variant	NM_000018.4(ACADVL):c.139-1G>T	ACADVL	Likely pathogenic	17	7123782	7123782	G	T	criteria provided, single submitter	-
single nucleotide variant	NM_000018.4(ACADVL):c.1605+2T>C	ACADVL	Likely pathogenic	17	7127714	7127714	T	C	reviewed by expert panel	-