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.307_323dup (p.Val109fs)	ACADVL	Likely pathogenic	17	7124113	7124114	T	TAAAGAGCTGGTGGAGCC	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	-
single nucleotide variant	NM_000018.4(ACADVL):c.277+2T>G	ACADVL	Pathogenic	17	7123997	7123997	T	G	reviewed by expert panel	-
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.277+1del	ACADVL	Likely pathogenic	17	7123995	7123995	CG	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	-
single nucleotide variant	NM_000018.4(ACADVL):c.256C>T (p.Gln86Ter)	ACADVL	Likely pathogenic	17	7123974	7123974	C	T	criteria provided, single submitter	-
Duplication	NM_000018.4(ACADVL):c.210dup (p.Lys71Ter)	ACADVL	Likely pathogenic	17	7123927	7123928	C	CT	reviewed by expert panel	ClinGen:CA312282
single nucleotide variant	NM_000018.4(ACADVL):c.205-2A>G	ACADVL	Likely pathogenic	17	7123921	7123921	A	G	criteria provided, single submitter	-
single nucleotide variant	NM_000018.4(ACADVL):c.199A>T (p.Lys67Ter)	ACADVL	Likely pathogenic	17	7123843	7123843	A	T	reviewed by expert panel	-