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
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
Deletion	NM_000018.4(ACADVL):c.996del (p.Ala333fs)	ACADVL	Pathogenic/Likely pathogenic	17	7126102	7126102	GT	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA16041864
Duplication	NM_000018.4(ACADVL):c.996dup (p.Ala333fs)	ACADVL	Pathogenic/Likely pathogenic	17	7126101	7126102	G	GT	criteria provided, multiple submitters, no conflicts	ClinGen:CA16041865
Indel	NM_000018.4(ACADVL):c.1077_1077+1delinsCAC	ACADVL	Pathogenic	17	7126184	7126185	GG	CAC	reviewed by expert panel	ClinGen:CA16041866
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.1077+2T>C	ACADVL	Pathogenic	17	7126186	7126186	T	C	reviewed by expert panel	ClinGen:CA16041868
Deletion	NM_000018.4(ACADVL):c.1113del (p.Ile373fs)	ACADVL	Pathogenic/Likely pathogenic	17	7126487	7126487	AG	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16041869
Deletion	NM_000018.4(ACADVL):c.1141_1143del (p.Glu381del)	ACADVL	Pathogenic	17	7126513	7126515	CAGG	C	reviewed by expert panel	ClinGen:CA16041870
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