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.1843C>T (p.Arg615Ter)	ACADVL	Likely pathogenic	17	7128291	7128291	C	T	reviewed by expert panel	ClinGen:CA16608642
Duplication	NM_000018.4(ACADVL):c.1593dup (p.Ser532fs)	ACADVL	Likely pathogenic	17	7127698	7127699	C	CG	reviewed by expert panel	ClinGen:CA16616934
Deletion	NM_000018.4(ACADVL):c.428_467del (p.Gly143fs)	ACADVL	Pathogenic	17	7124319	7124358	GGGGCCTTTGGTCTGCAAGTGCCCAGTGAGCTGGGTGGTGT	G	reviewed by expert panel	ClinGen:CA8337697
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
Deletion	NM_000018.4(ACADVL):c.1630_1645del (p.Ala544fs)	ACADVL	Likely pathogenic	17	7127823	7127838	TGCCACTGTGGTGGAGG	T	reviewed by expert panel	ClinGen:CA624860771
single nucleotide variant	NM_000018.4(ACADVL):c.62+6T>C	ACADVL	Likely pathogenic	17	7123371	7123371	T	C	criteria provided, single submitter	ClinGen:CA645372604
Indel	NM_000018.4(ACADVL):c.573_580delinsTTT (p.Gly193fs)	ACADVL	Likely pathogenic	17	7124952	7124959	CTTTGGCA	TTT	criteria provided, single submitter	ClinGen:CA645373068
single nucleotide variant	NM_000018.4(ACADVL):c.953C>T (p.Pro318Leu)	ACADVL	Likely pathogenic	17	7126060	7126060	C	T	reviewed by expert panel	ClinGen:CA287437583
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
single nucleotide variant	NM_000018.4(ACADVL):c.554G>C (p.Gly185Ala)	ACADVL	Likely pathogenic	17	7124933	7124933	G	C	criteria provided, single submitter	ClinGen:CA397723152