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.1045C>T (p.Arg349Ter)	ACADM	Pathogenic/Likely pathogenic	1	76226906	76226906	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA274261
single nucleotide variant	NM_000016.6(ACADM):c.977T>C (p.Met326Thr)	ACADM	Pathogenic/Likely pathogenic	1	76226838	76226838	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA274268,UniProtKB:P11310#VAR_000324
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
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.199T>C (p.Tyr67His)	ACADM	Pathogenic/Likely pathogenic	1	76198409	76198409	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA252836,UniProtKB:P11310#VAR_013698,OMIM:607008.0011
single nucleotide variant	NM_000016.6(ACADM):c.583G>A (p.Gly195Arg)	ACADM	Pathogenic/Likely pathogenic	1	76205779	76205779	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA220181,UniProtKB:P11310#VAR_000321,OMIM:607008.0009
Deletion	NM_000016.6(ACADM):c.1102_1105del (p.Ala369fs)	ACADM	Pathogenic/Likely pathogenic	1	76226961	76226964	CAGTT	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA220166,OMIM:607008.0007
single nucleotide variant	NM_000016.6(ACADM):c.447G>A (p.Met149Ile)	ACADM	Pathogenic/Likely pathogenic	1	76200535	76200535	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA252830,UniProtKB:P11310#VAR_000319,OMIM:607008.0006
single nucleotide variant	NM_000016.6(ACADM):c.799G>A (p.Gly267Arg)	ACADM	Pathogenic/Likely pathogenic	1	76215194	76215194	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA252824,UniProtKB:P11310#VAR_000323,OMIM:607008.0003