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.1045del (p.Arg349fs)	ACADM	Likely pathogenic	1	76226906	76226906	TC	T	criteria provided, single submitter	ClinGen:CA16040784
Deletion	NM_000016.6(ACADM):c.1073del (p.Lys358fs)	ACADM	Likely pathogenic	1	76226932	76226932	CA	C	criteria provided, single submitter	ClinGen:CA16040785
Duplication	NM_000016.6(ACADM):c.1114dup (p.Ala372fs)	ACADM	Pathogenic	1	76226974	76226975	T	TG	criteria provided, multiple submitters, no conflicts	ClinGen:CA16040786
single nucleotide variant	NM_000016.6(ACADM):c.1150G>T (p.Glu384Ter)	ACADM	Pathogenic/Likely pathogenic	1	76227011	76227011	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA913280
single nucleotide variant	NM_000016.6(ACADM):c.1195-2A>T	ACADM	Likely pathogenic	1	76228375	76228375	A	T	criteria provided, single submitter	ClinGen:CA16040787
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.287-2A>G	ACADM	Likely pathogenic	1	76199211	76199211	A	G	criteria provided, single submitter	ClinGen:CA16043645
single nucleotide variant	NM_000016.6(ACADM):c.218A>G (p.Tyr73Cys)	ACADM	Likely pathogenic	1	76198539	76198539	A	G	criteria provided, single submitter	ClinGen:CA16603753
Duplication	NM_000016.6(ACADM):c.355dup (p.Val119fs)	ACADM	Pathogenic/Likely pathogenic	1	76199277	76199278	A	AG	criteria provided, multiple submitters, no conflicts	ClinGen:CA16617185
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