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.1124T>C (p.Ile375Thr)	ACADM	Likely pathogenic	1	76226985	76226985	T	C	criteria provided, single submitter	ClinGen:CA252826,UniProtKB:P11310#VAR_000327,OMIM:607008.0004
single nucleotide variant	NM_000016.6(ACADM):c.577A>G (p.Thr193Ala)	ACADM	Likely pathogenic	1	76205773	76205773	A	G	criteria provided, single submitter	ClinGen:CA252832,UniProtKB:P11310#VAR_000320,OMIM:607008.0010
single nucleotide variant	NM_000016.6(ACADM):c.253G>A (p.Gly85Ser)	ACADM	Likely pathogenic	1	76198574	76198574	G	A	criteria provided, single submitter	ClinGen:CA220176
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.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.216+1G>T	ACADM	Likely pathogenic	1	76198427	76198427	G	T	criteria provided, single submitter	ClinGen:CA16040774
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.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.949C>T (p.Gln317Ter)	ACADM	Likely pathogenic	1	76226810	76226810	C	T	criteria provided, single submitter	ClinGen:CA16040781
Deletion	NM_000016.6(ACADM):c.1045del (p.Arg349fs)	ACADM	Likely pathogenic	1	76226906	76226906	TC	T	criteria provided, single submitter	ClinGen:CA16040784