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.1043_1065dup (p.Ile356delinsTrpGlnValProTer)	ACADVL	Pathogenic/Likely pathogenic	17	7126148	7126149	C	CCTGGCAGGTACCATGAGAGGCAT	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000018.4(ACADVL):c.956C>A (p.Ser319Ter)	ACADVL	Pathogenic/Likely pathogenic	17	7126063	7126063	C	A	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_000018.4(ACADVL):c.708_709del (p.Cys237fs)	ACADVL	Pathogenic/Likely pathogenic	17	7125356	7125357	CCT	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA658683975
single nucleotide variant	NM_000018.4(ACADVL):c.1183-15A>G	ACADVL	Pathogenic/Likely pathogenic	17	7126948	7126948	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA8338032
Deletion	NM_000018.4(ACADVL):c.602_603del (p.Tyr201fs)	ACADVL	Pathogenic/Likely pathogenic	17	7124981	7124982	TAC	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16620599
single nucleotide variant	NM_000018.4(ACADVL):c.1532+2T>C	ACADVL	Pathogenic/Likely pathogenic	17	7127564	7127564	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA16041875
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
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
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
single nucleotide variant	NM_000018.4(ACADVL):c.685C>T (p.Arg229Ter)	ACADVL	Pathogenic/Likely pathogenic	17	7125333	7125333	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA274078