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.469-1G>A	ACADM	Pathogenic	1	76205664	76205664	G	A	criteria provided, single submitter	ClinGen:CA10576231
single nucleotide variant	NM_000016.6(ACADM):c.580A>G (p.Asn194Asp)	ACADM	Pathogenic/Likely pathogenic	1	76205776	76205776	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA913137
single nucleotide variant	NM_000016.6(ACADM):c.599+1G>A	ACADM	Pathogenic/Likely pathogenic	1	76205796	76205796	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10576233
single nucleotide variant	NM_000016.6(ACADM):c.600-18G>A	ACADM	Pathogenic/Likely pathogenic	1	76211473	76211473	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA913154
single nucleotide variant	NM_000016.6(ACADM):c.609A>C (p.Leu203Phe)	ACADM	Pathogenic	1	76211500	76211500	A	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA10576236
single nucleotide variant	NM_000016.6(ACADM):c.742A>G (p.Arg248Gly)	ACADM	Pathogenic	1	76215137	76215137	A	G	criteria provided, single submitter	ClinGen:CA10576237
single nucleotide variant	NM_000016.6(ACADM):c.757G>A (p.Glu253Lys)	ACADM	Pathogenic/Likely pathogenic	1	76215152	76215152	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA913200
Deletion	NM_000016.6(ACADM):c.817_829del (p.Ala273fs)	ACADM	Pathogenic/Likely pathogenic	1	76215210	76215222	GTTGCAATGGGAGC	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA913206
single nucleotide variant	NM_000016.6(ACADM):c.881G>C (p.Arg294Thr)	ACADM	Pathogenic/Likely pathogenic	1	76216167	76216167	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA913234
Duplication	NM_000016.6(ACADM):c.926dup (p.Gly310fs)	ACADM	Pathogenic/Likely pathogenic	1	76216209	76216210	C	CT	criteria provided, multiple submitters, no conflicts	ClinGen:CA10576239