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
Deletion	NM_000016.6(ACADM):c.449_452del (p.Thr150fs)	ACADM	Pathogenic	1	76200534	76200537	ATGAC	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA274299,OMIM:607008.0016
Duplication	NM_000016.6(ACADM):c.244dup (p.Trp82fs)	ACADM	Pathogenic	1	76198564	76198565	C	CT	criteria provided, multiple submitters, no conflicts	ClinGen:CA274151
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.253G>A (p.Gly85Ser)	ACADM	Likely pathogenic	1	76198574	76198574	G	A	criteria provided, single submitter	ClinGen:CA220176
single nucleotide variant	NM_000016.6(ACADM):c.233T>C (p.Ile78Thr)	ACADM	Pathogenic	1	76198554	76198554	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA275237,UniProtKB:P11310#VAR_015954
single nucleotide variant	NM_000016.6(ACADM):c.216+2T>G	ACADM	Pathogenic	1	76198428	76198428	T	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA220175
single nucleotide variant	NM_000016.6(ACADM):c.157C>T (p.Arg53Cys)	ACADM	Pathogenic	1	76198367	76198367	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA220173,UniProtKB:P11310#VAR_000317
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