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.984del (p.Met328fs)	ACADM	Pathogenic/Likely pathogenic	1	76226845	76226845	TG	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA913260
single nucleotide variant	NM_000016.6(ACADM):c.985A>C (p.Lys329Gln)	ACADM	Pathogenic	1	76226846	76226846	A	C	criteria provided, single submitter	ClinGen:CA10576240
single nucleotide variant	NM_000016.6(ACADM):c.1012C>T (p.Gln338Ter)	ACADM	Pathogenic	1	76226873	76226873	C	T	criteria provided, single submitter	ClinGen:CA10576241
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
Duplication	NM_000016.6(ACADM):c.1189dup (p.Tyr397fs)	ACADM	Pathogenic	1	76227049	76227050	C	CT	criteria provided, multiple submitters, no conflicts	ClinGen:CA913286
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.849+1G>A	ACADM	Pathogenic	1	76215245	76215245	G	A	criteria provided, single submitter	ClinGen:CA10581419
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
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.118+1G>T	ACADM	Likely pathogenic	1	76194174	76194174	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16040772