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.1606-2A>C	ACADVL	Likely pathogenic	17	7127797	7127797	A	C	criteria provided, single submitter	-
Deletion	NM_000018.4(ACADVL):c.266del (p.Pro89fs)	ACADVL	Likely pathogenic	17	7123982	7123982	TC	T	reviewed by expert panel	-
Duplication	NM_000018.4(ACADVL):c.1908dup (p.Ile637fs)	ACADVL	Likely pathogenic	17	7128355	7128356	G	GC	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_000018.4(ACADVL):c.932del (p.Phe311fs)	ACADVL	Likely pathogenic	17	7126038	7126038	GT	G	reviewed by expert panel	-
single nucleotide variant	NM_000018.4(ACADVL):c.1182+2T>C	ACADVL	Likely pathogenic	17	7126558	7126558	T	C	criteria provided, single submitter	-
Deletion	NM_000018.4(ACADVL):c.1283del (p.Lys428fs)	ACADVL	Likely pathogenic	17	7127144	7127144	GA	G	reviewed by expert panel	-
Deletion	NM_000018.4(ACADVL):c.16_32del (p.Met6fs)	ACADVL	Likely pathogenic	17	7123317	7123333	CGGATGGCCGCGAGCTTG	C	criteria provided, single submitter	-
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	-
Deletion	NM_000018.4(ACADVL):c.623-2_623-1del	ACADVL	Likely pathogenic	17	7125269	7125270	CAG	C	criteria provided, multiple submitters, no conflicts	-