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.999_1011dup (p.Gln338Ter)	ACADM	Pathogenic/Likely pathogenic	1	76226858	76226859	G	GCTAGAATGAGTTA	criteria provided, multiple submitters, no conflicts	ClinGen:CA252823,OMIM:607008.0002
single nucleotide variant	NM_000016.6(ACADM):c.217-1G>A	ACADM	Pathogenic	1	76198537	76198537	G	A	criteria provided, single submitter	-
single nucleotide variant	NM_000016.6(ACADM):c.67C>T (p.Gln23Ter)	ACADM	Pathogenic	1	76194122	76194122	C	T	criteria provided, single submitter	-
Deletion	NM_000016.6(ACADM):c.927del (p.Phe309fs)	ACADM	Pathogenic	1	76216213	76216213	TC	T	criteria provided, multiple submitters, no conflicts	-
Indel	NM_000016.6(ACADM):c.794_803delinsTTTAA (p.Gly265_Ala268delinsValTer)	ACADM	Pathogenic	1	76215189	76215198	GTGACGGAGC	TTTAA	criteria provided, multiple submitters, no conflicts	-
Deletion	NC_000001.11:g.(?_75761102)_(75762783_?)del	ACADM	Pathogenic	1	76226787	76228468	na	na	criteria provided, single submitter	-
Deletion	NC_000001.11:g.(?_75541435)_(76074884_?)del	ACADM	Pathogenic	1	76007120	76540569	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_000016.6(ACADM):c.1194+1G>A	ACADM	Pathogenic	1	76227056	76227056	G	A	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_000016.6(ACADM):c.47del (p.Ser16fs)	ACADM	Pathogenic	1	76194102	76194102	TC	T	criteria provided, single submitter	ClinGen:CA658795477
single nucleotide variant	NM_000016.6(ACADM):c.1190A>C (p.Tyr397Ser)	ACADM	Pathogenic	1	76227051	76227051	A	C	criteria provided, single submitter	ClinGen:CA340818359