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+1G>T	ACADVL	Likely pathogenic	17	7123996	7123996	G	T	criteria provided, single submitter	ClinGen:CA16041858
Deletion	NM_000018.4(ACADVL):c.308_309del (p.Lys103fs)	ACADVL	Likely pathogenic	17	7124114	7124115	TAA	T	reviewed by expert panel	ClinGen:CA16041859
single nucleotide variant	NM_000018.4(ACADVL):c.478-1G>C	ACADVL	Likely pathogenic	17	7124856	7124856	G	C	criteria provided, single submitter	ClinGen:CA16041860
Deletion	NM_000018.4(ACADVL):c.497_498del (p.Ile166fs)	ACADVL	Likely pathogenic	17	7124876	7124877	ATC	A	reviewed by expert panel	ClinGen:CA16041861
single nucleotide variant	NM_000018.4(ACADVL):c.865G>A (p.Gly289Arg)	ACADVL	Likely pathogenic	17	7125608	7125608	G	A	reviewed by expert panel	ClinGen:CA8337873
Duplication	NM_000018.4(ACADVL):c.881_884dup (p.Pro296fs)	ACADVL	Likely pathogenic	17	7125987	7125988	G	GGGCC	reviewed by expert panel	ClinGen:CA8337899
Deletion	NM_000018.4(ACADVL):c.891del (p.Lys298fs)	ACADVL	Likely pathogenic	17	7125998	7125998	AG	A	criteria provided, single submitter	ClinGen:CA16041863
single nucleotide variant	NM_000018.4(ACADVL):c.1077+1G>T	ACADVL	Likely pathogenic	17	7126185	7126185	G	T	reviewed by expert panel	ClinGen:CA16041867
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.1280G>A (p.Trp427Ter)	ACADVL	Likely pathogenic	17	7127142	7127142	G	A	criteria provided, single submitter	ClinGen:CA16041872