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
single nucleotide variant	NM_000016.6(ACADM):c.742A>G (p.Arg248Gly)	ACADM	Pathogenic	1	76215137	76215137	A	G	criteria provided, single submitter	ClinGen:CA10576237
single nucleotide variant	NM_000016.6(ACADM):c.739A>G (p.Thr247Ala)	ACADM	Likely pathogenic	1	76215134	76215134	A	G	criteria provided, single submitter	ClinGen:CA16042329
single nucleotide variant	NM_000016.6(ACADM):c.734C>T (p.Ser245Leu)	ACADM	Pathogenic/Likely pathogenic	1	76215129	76215129	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA220186,UniProtKB:P11310#VAR_013699,OMIM:607008.0012
single nucleotide variant	NM_000016.6(ACADM):c.709-1G>A	ACADM	Pathogenic/Likely pathogenic	1	76215103	76215103	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16040780
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	-
single nucleotide variant	NM_000016.6(ACADM):c.708+2T>G	ACADM	Likely pathogenic	1	76211601	76211601	T	G	criteria provided, single submitter	-
single nucleotide variant	NM_000016.6(ACADM):c.708+1G>A	ACADM	Likely pathogenic	1	76211600	76211600	G	A	criteria provided, single submitter	ClinGen:CA340816332
single nucleotide variant	NM_000016.6(ACADM):c.698T>C (p.Ile233Thr)	ACADM	Pathogenic/Likely pathogenic	1	76211589	76211589	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA312175
single nucleotide variant	NM_000016.6(ACADM):c.617G>A (p.Arg206His)	ACADM	Pathogenic/Likely pathogenic	1	76211508	76211508	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA220183
single nucleotide variant	NM_000016.6(ACADM):c.616C>T (p.Arg206Cys)	ACADM	Pathogenic/Likely pathogenic	1	76211507	76211507	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA275410