極長鎖アシルCoA脱水素酵素欠損症

小児・神経疾患

表のタイトル行が青色の項目は、クリックすることでソートすることができます。

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.1333-2A>T	ACADVL	Likely pathogenic	17	7127285	7127285	A	T	criteria provided, single submitter	ClinGen:CA16041873
single nucleotide variant	NM_000018.4(ACADVL):c.1332G>A (p.Lys444=)	ACADVL	Likely pathogenic	17	7127194	7127194	G	A	criteria provided, single submitter	-
single nucleotide variant	NM_000018.4(ACADVL):c.1322G>A (p.Gly441Asp)	ACADVL	Pathogenic	17	7127184	7127184	G	A	reviewed by expert panel	ClinGen:CA220193,UniProtKB:P49748#VAR_000354,OMIM:609575.0009
Duplication	NM_000018.4(ACADVL):c.1317dup (p.Met440fs)	ACADVL	Likely pathogenic	17	7127178	7127179	G	GT	reviewed by expert panel	-
single nucleotide variant	NM_000018.4(ACADVL):c.1313G>A (p.Gly438Glu)	ACADVL	Likely pathogenic	17	7127175	7127175	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA397724846
Duplication	NM_000018.4(ACADVL):c.1316dup (p.Met440fs)	ACADVL	Likely pathogenic	17	7127172	7127173	T	TG	reviewed by expert panel	ClinGen:CA312287
single nucleotide variant	NM_000018.4(ACADVL):c.1294G>T (p.Glu432Ter)	ACADVL	Likely pathogenic	17	7127156	7127156	G	T	reviewed by expert panel	-
Deletion	NM_000018.4(ACADVL):c.1283del (p.Lys428fs)	ACADVL	Likely pathogenic	17	7127144	7127144	GA	G	reviewed by expert panel	-
single nucleotide variant	NM_000018.4(ACADVL):c.1280G>A (p.Trp427Ter)	ACADVL	Likely pathogenic	17	7127142	7127142	G	A	criteria provided, single submitter	ClinGen:CA16041872
single nucleotide variant	NM_000018.4(ACADVL):c.1269+1G>A	ACADVL	Likely pathogenic	17	7127050	7127050	G	A	reviewed by expert panel	-