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
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
Deletion	NM_000018.4(ACADVL):c.343del	ACADVL	Pathogenic	17	7124242	7124242	AG	A	reviewed by expert panel	ClinGen:CA220206,OMIM:609575.0004,OMIM:609575.0005
single nucleotide variant	NM_000018.4(ACADVL):c.1605+2T>C	ACADVL	Likely pathogenic	17	7127714	7127714	T	C	reviewed by expert panel	-
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.205-2A>G	ACADVL	Likely pathogenic	17	7123921	7123921	A	G	criteria provided, single submitter	-
single nucleotide variant	NM_000018.4(ACADVL):c.1751+2T>C	ACADVL	Likely pathogenic	17	7128035	7128035	T	C	criteria provided, single submitter	-
Duplication	NM_000018.4(ACADVL):c.1368dup (p.Ile457fs)	ACADVL	Likely pathogenic	17	7127321	7127322	G	GC	reviewed by expert panel	-
single nucleotide variant	NM_000018.4(ACADVL):c.1332G>A (p.Lys444=)	ACADVL	Likely pathogenic	17	7127194	7127194	G	A	criteria provided, single submitter	-
single nucleotide variant	NM_000018.4(ACADVL):c.1294G>T (p.Glu432Ter)	ACADVL	Likely pathogenic	17	7127156	7127156	G	T	reviewed by expert panel	-