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.277+2T>G	ACADVL	Pathogenic	17	7123997	7123997	T	G	reviewed by expert panel	-
Deletion	NM_000018.4(ACADVL):c.299_305del (p.Gln100fs)	ACADVL	Likely pathogenic	17	7124106	7124112	CAGTTTCT	C	criteria provided, single submitter	-
Duplication	NM_000018.4(ACADVL):c.307_323dup (p.Val109fs)	ACADVL	Likely pathogenic	17	7124113	7124114	T	TAAAGAGCTGGTGGAGCC	reviewed by expert panel	-
Deletion	NM_000018.4(ACADVL):c.308_309del (p.Lys103fs)	ACADVL	Likely pathogenic	17	7124114	7124115	TAA	T	reviewed by expert panel	ClinGen:CA16041859
Deletion	NM_000018.4(ACADVL):c.316_325del (p.Val106fs)	ACADVL	Likely pathogenic	17	7124120	7124129	GCTGGTGGAGC	G	reviewed by expert panel	ClinGen:CA16043042
single nucleotide variant	NM_000018.4(ACADVL):c.342+1G>C	ACADVL	Pathogenic	17	7124150	7124150	G	C	reviewed by expert panel	ClinGen:CA397722627
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.343-1G>A	ACADVL	Pathogenic	17	7124242	7124242	G	A	reviewed by expert panel	-
single nucleotide variant	NM_000018.4(ACADVL):c.364A>G (p.Asn122Asp)	ACADVL	Likely pathogenic	17	7124264	7124264	A	G	reviewed by expert panel	ClinGen:CA16603209
single nucleotide variant	NM_000018.4(ACADVL):c.398G>A (p.Trp133Ter)	ACADVL	Likely pathogenic	17	7124298	7124298	G	A	criteria provided, single submitter	-