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.433C>T (p.Gln145Ter)	ACADVL	Likely pathogenic	17	7124333	7124333	C	T	reviewed by expert panel	ClinGen:CA274436
Deletion	NM_000018.4(ACADVL):c.887_888del (p.Pro296fs)	ACADVL	Likely pathogenic	17	7125994	7125995	CCT	C	reviewed by expert panel	ClinGen:CA274249
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.427G>A (p.Gly143Ser)	ACADVL	Likely pathogenic	17	7124327	7124327	G	A	criteria provided, single submitter	-
single nucleotide variant	NM_000018.4(ACADVL):c.553G>A (p.Gly185Ser)	ACADVL	Likely pathogenic	17	7124932	7124932	G	A	reviewed by expert panel	ClinGen:CA312291,UniProtKB:P49748#VAR_000335
single nucleotide variant	NM_000018.4(ACADVL):c.1097G>A (p.Arg366His)	ACADVL	Likely pathogenic	17	7126471	7126471	G	A	reviewed by expert panel	ClinVar:867229,ClinGen:CA312265,UniProtKB:P49748#VAR_000350
Duplication	NM_000018.4(ACADVL):c.1316dup (p.Met440fs)	ACADVL	Likely pathogenic	17	7127172	7127173	T	TG	reviewed by expert panel	ClinGen:CA312287
Duplication	NM_000018.3(ACADVL):c.1375dup	ACADVL	Likely pathogenic	17	7127327	7127328	T	TC	reviewed by expert panel	ClinGen:CA312288
Duplication	NM_000018.4(ACADVL):c.869dup (p.Ile291fs)	ACADVL	Likely pathogenic	17	7125607	7125608	C	CG	reviewed by expert panel	ClinGen:CA10607042
single nucleotide variant	NM_000018.4(ACADVL):c.138+2T>C	ACADVL	Likely pathogenic	17	7123518	7123518	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA16041857