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.1908dup (p.Ile637fs)	ACADVL	Likely pathogenic	17	7128355	7128356	G	GC	criteria provided, multiple submitters, no conflicts	-
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.1606-2A>C	ACADVL	Likely pathogenic	17	7127797	7127797	A	C	criteria provided, single submitter	-
single nucleotide variant	NM_000018.4(ACADVL):c.256C>T (p.Gln86Ter)	ACADVL	Likely pathogenic	17	7123974	7123974	C	T	criteria provided, single submitter	-
single nucleotide variant	NM_000018.4(ACADVL):c.1434+2T>G	ACADVL	Likely pathogenic	17	7127390	7127390	T	G	criteria provided, single submitter	-
single nucleotide variant	NM_000018.4(ACADVL):c.3G>A (p.Met1Ile)	ACADVL	Likely pathogenic	17	7123306	7123306	G	A	criteria provided, single submitter	-
single nucleotide variant	NM_000018.4(ACADVL):c.603C>G (p.Tyr201Ter)	ACADVL	Likely pathogenic	17	7124982	7124982	C	G	reviewed by expert panel	-
single nucleotide variant	NM_000018.4(ACADVL):c.398G>A (p.Trp133Ter)	ACADVL	Likely pathogenic	17	7124298	7124298	G	A	criteria provided, single submitter	-
Deletion	NM_000018.4(ACADVL):c.192del (p.Lys64fs)	ACADVL	Likely pathogenic	17	7123831	7123831	GA	G	reviewed by expert panel	-
single nucleotide variant	NM_000018.4(ACADVL):c.138+1G>A	ACADVL	Likely pathogenic	17	7123517	7123517	G	A	reviewed by expert panel	-