中鎖アシル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_000016.6(ACADM):c.355dup (p.Val119fs)	ACADM	Pathogenic/Likely pathogenic	1	76199277	76199278	A	AG	criteria provided, multiple submitters, no conflicts	ClinGen:CA16617185
single nucleotide variant	NM_000016.6(ACADM):c.1055A>G (p.Tyr352Cys)	ACADM	Pathogenic/Likely pathogenic	1	76226916	76226916	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA340818073
single nucleotide variant	NM_000016.6(ACADM):c.843A>T (p.Arg281Ser)	ACADM	Pathogenic/Likely pathogenic	1	76215238	76215238	A	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000016.6(ACADM):c.3G>C (p.Met1Ile)	ACADM	Pathogenic/Likely pathogenic	1	76190475	76190475	G	C	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000016.6(ACADM):c.30+2T>C	ACADM	Pathogenic/Likely pathogenic	1	76190504	76190504	T	C	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000016.6(ACADM):c.709-2A>C	ACADM	Pathogenic/Likely pathogenic	1	76215102	76215102	A	C	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_000016.6(ACADM):c.165del (p.Phe55fs)	ACADM	Pathogenic/Likely pathogenic	1	76198373	76198373	AT	A	criteria provided, multiple submitters, no conflicts	-