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.216+1G>T	ACADM	Likely pathogenic	1	76198427	76198427	G	T	criteria provided, single submitter	ClinGen:CA16040774
Deletion	NM_000016.6(ACADM):c.224del (p.Val75fs)	ACADM	Likely pathogenic	1	76198545	76198545	GT	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA16040775
single nucleotide variant	NM_000016.6(ACADM):c.387+1G>A	ACADM	Pathogenic	1	76199314	76199314	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16040777
single nucleotide variant	NM_000016.6(ACADM):c.387+1G>T	ACADM	Likely pathogenic	1	76199314	76199314	G	T	criteria provided, single submitter	ClinGen:CA16040778
Deletion	NM_000016.6(ACADM):c.431_434del (p.Lys144fs)	ACADM	Pathogenic	1	76200518	76200521	GAAGT	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA16040779
Deletion	NM_000016.6(ACADM):c.437del (p.Leu146fs)	ACADM	Pathogenic/Likely pathogenic	1	76200523	76200523	AT	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA913106
single nucleotide variant	NM_000016.6(ACADM):c.599+2T>C	ACADM	Pathogenic/Likely pathogenic	1	76205797	76205797	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA913142
single nucleotide variant	NM_000016.6(ACADM):c.709-1G>A	ACADM	Pathogenic/Likely pathogenic	1	76215103	76215103	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16040780
single nucleotide variant	NM_000016.6(ACADM):c.949C>T (p.Gln317Ter)	ACADM	Likely pathogenic	1	76226810	76226810	C	T	criteria provided, single submitter	ClinGen:CA16040781
single nucleotide variant	NM_000016.6(ACADM):c.959C>A (p.Ser320Ter)	ACADM	Pathogenic/Likely pathogenic	1	76226820	76226820	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16040783