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.520G>A (p.Val174Met)	ACADVL	Pathogenic/Likely pathogenic	17	7124899	7124899	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA220213,UniProtKB:P49748#VAR_000334
single nucleotide variant	NM_000018.4(ACADVL):c.1700G>A (p.Arg567Gln)	ACADVL	Pathogenic/Likely pathogenic	17	7127982	7127982	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA285290
single nucleotide variant	NM_000018.4(ACADVL):c.779C>T (p.Thr260Met)	ACADVL	Pathogenic/Likely pathogenic	17	7125522	7125522	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA341526,UniProtKB:P49748#VAR_000339
single nucleotide variant	NM_000018.4(ACADVL):c.1182+1G>A	ACADVL	Pathogenic/Likely pathogenic	17	7126557	7126557	G	A	criteria provided, multiple submitters, no conflicts	OMIM:609575.0002
Deletion	NM_000018.4(ACADVL):c.552del (p.Ile184fs)	ACADVL	Pathogenic	17	7124931	7124931	TC	T	reviewed by expert panel	-
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.104del (p.Pro35fs)	ACADVL	Pathogenic	17	7123480	7123480	GC	G	reviewed by expert panel	ClinGen:CA624861220
single nucleotide variant	NM_000018.4(ACADVL):c.342+1G>C	ACADVL	Pathogenic	17	7124150	7124150	G	C	reviewed by expert panel	ClinGen:CA397722627
single nucleotide variant	NM_000018.4(ACADVL):c.1253G>A (p.Ser418Asn)	ACADVL	Pathogenic	17	7127033	7127033	G	A	criteria provided, single submitter	ClinGen:CA397724694
Deletion	NM_000018.4(ACADVL):c.428_467del (p.Gly143fs)	ACADVL	Pathogenic	17	7124319	7124358	GGGGCCTTTGGTCTGCAAGTGCCCAGTGAGCTGGGTGGTGT	G	reviewed by expert panel	ClinGen:CA8337697