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
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
Deletion	NM_000016.6(ACADM):c.1221_1222del (p.Arg408fs)	ACADM	Pathogenic/Likely pathogenic	1	76228402	76228403	CAA	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA10576246
single nucleotide variant	NM_000016.6(ACADM):c.1189T>A (p.Tyr397Asn)	ACADM	Pathogenic/Likely pathogenic	1	76227050	76227050	T	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA913287
Deletion	NM_000016.6(ACADM):c.984del (p.Met328fs)	ACADM	Pathogenic/Likely pathogenic	1	76226845	76226845	TG	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA913260
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
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
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.757G>A (p.Glu253Lys)	ACADM	Pathogenic/Likely pathogenic	1	76215152	76215152	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA913200