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
Deletion	NM_000018.4(ACADVL):c.1102_1103del (p.Gln368fs)	ACADVL	Likely pathogenic	17	7126476	7126477	CCA	C	reviewed by expert panel	-
single nucleotide variant	NM_000018.4(ACADVL):c.566T>C (p.Ile189Thr)	ACADVL	Likely pathogenic	17	7124945	7124945	T	C	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	-
Duplication	NM_000018.4(ACADVL):c.1317dup (p.Met440fs)	ACADVL	Likely pathogenic	17	7127178	7127179	G	GT	reviewed by expert panel	-
Deletion	NM_000018.4(ACADVL):c.809del (p.Pro270fs)	ACADVL	Likely pathogenic	17	7125551	7125551	TC	T	reviewed by expert panel	-
Duplication	NM_000018.4(ACADVL):c.652_682dup (p.Ile228fs)	ACADVL	Likely pathogenic	17	7125299	7125300	C	CGAGCCCTCAAGCGGGTCAGATGCAGCCTCCA	reviewed by expert panel	-
Duplication	NM_000018.4(ACADVL):c.192dup (p.Pro65fs)	ACADVL	Likely pathogenic	17	7123830	7123831	G	GA	reviewed by expert panel	-
Deletion	NM_000018.4(ACADVL):c.1007_1026del (p.Ile336fs)	ACADVL	Likely pathogenic	17	7126114	7126133	ATCCTCAACAATGGAAGGTTT	A	reviewed by expert panel	-
Duplication	NM_000018.4(ACADVL):c.1714dup (p.Ala572fs)	ACADVL	Likely pathogenic	17	7127992	7127993	C	CG	criteria provided, single submitter	-
Duplication	NM_000018.4(ACADVL):c.1043_1065dup (p.Ile356delinsTrpGlnValProTer)	ACADVL	Pathogenic/Likely pathogenic	17	7126148	7126149	C	CCTGGCAGGTACCATGAGAGGCAT	criteria provided, multiple submitters, no conflicts	-