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.599+2T>C	ACADM	Pathogenic/Likely pathogenic	1	76205797	76205797	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA913142
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
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
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
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
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.216+1G>T	ACADM	Likely pathogenic	1	76198427	76198427	G	T	criteria provided, single submitter	ClinGen:CA16040774
single nucleotide variant	NM_000016.6(ACADM):c.118+1G>T	ACADM	Likely pathogenic	1	76194174	76194174	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16040772
single nucleotide variant	NM_000016.6(ACADM):c.1A>G (p.Met1Val)	ACADM	Pathogenic/Likely pathogenic	1	76190473	76190473	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA16040771
single nucleotide variant	NM_000016.6(ACADM):c.946-2A>C	ACADM	Pathogenic	1	76226805	76226805	A	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA913256