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.1102_1105del (p.Ala369fs)	ACADM	Pathogenic/Likely pathogenic	1	76226961	76226964	CAGTT	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA220166,OMIM:607008.0007
Deletion	NM_000016.6(ACADM):c.1073del (p.Lys358fs)	ACADM	Likely pathogenic	1	76226932	76226932	CA	C	criteria provided, single submitter	ClinGen:CA16040785
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.1052C>T (p.Thr351Ile)	ACADM	Pathogenic/Likely pathogenic	1	76226913	76226913	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA312184
Deletion	NM_000016.6(ACADM):c.1045del (p.Arg349fs)	ACADM	Likely pathogenic	1	76226906	76226906	TC	T	criteria provided, single submitter	ClinGen:CA16040784
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.1034A>T (p.Asp345Val)	ACADM	Pathogenic	1	76226895	76226895	A	T	criteria provided, single submitter	ClinGen:CA913267
single nucleotide variant	NM_000016.6(ACADM):c.1012C>T (p.Gln338Ter)	ACADM	Pathogenic	1	76226873	76226873	C	T	criteria provided, single submitter	ClinGen:CA10576241
Duplication	NM_000016.6(ACADM):c.999_1011dup (p.Gln338Ter)	ACADM	Pathogenic/Likely pathogenic	1	76226858	76226859	G	GCTAGAATGAGTTA	criteria provided, multiple submitters, no conflicts	ClinGen:CA252823,OMIM:607008.0002
Deletion	NM_000016.6(ACADM):c.989_1010del (p.Val330fs)	ACADM	Pathogenic	1	76226850	76226871	GTTGAACTAGCTAGAATGAGTTA	G	criteria provided, single submitter	ClinGen:CA658656942