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
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.913G>T (p.Glu305Ter)	ACADM	Likely pathogenic	1	76216199	76216199	G	T	criteria provided, single submitter	ClinGen:CA340817122
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
single nucleotide variant	NM_000016.6(ACADM):c.850-2A>G	ACADM	Likely pathogenic	1	76216134	76216134	A	G	criteria provided, single submitter	ClinGen:CA273906
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.843A>T (p.Arg281Ser)	ACADM	Pathogenic/Likely pathogenic	1	76215238	76215238	A	T	criteria provided, multiple submitters, no conflicts	-
Indel	NM_000016.6(ACADM):c.826_828delinsCC (p.Ala276fs)	ACADM	Likely pathogenic	1	76215221	76215223	GCT	CC	criteria provided, single submitter	-
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
Indel	NM_000016.6(ACADM):c.794_803delinsTTTAA (p.Gly265_Ala268delinsValTer)	ACADM	Pathogenic	1	76215189	76215198	GTGACGGAGC	TTTAA	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000016.6(ACADM):c.799G>A (p.Gly267Arg)	ACADM	Pathogenic/Likely pathogenic	1	76215194	76215194	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA252824,UniProtKB:P11310#VAR_000323,OMIM:607008.0003