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.999_1011dup (p.Gln338Ter)	ACADM	Pathogenic/Likely pathogenic	1	76226858	76226859	G	GCTAGAATGAGTTA	criteria provided, multiple submitters, no conflicts	ClinGen:CA252823,OMIM:607008.0002
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
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.447G>A (p.Met149Ile)	ACADM	Pathogenic/Likely pathogenic	1	76200535	76200535	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA252830,UniProtKB:P11310#VAR_000319,OMIM:607008.0006
Deletion	NM_000016.6(ACADM):c.1102_1105del (p.Ala369fs)	ACADM	Pathogenic/Likely pathogenic	1	76226961	76226964	CAGTT	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA220166,OMIM:607008.0007
single nucleotide variant	NM_000016.6(ACADM):c.583G>A (p.Gly195Arg)	ACADM	Pathogenic/Likely pathogenic	1	76205779	76205779	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA220181,UniProtKB:P11310#VAR_000321,OMIM:607008.0009
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.199T>C (p.Tyr67His)	ACADM	Pathogenic/Likely pathogenic	1	76198409	76198409	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA252836,UniProtKB:P11310#VAR_013698,OMIM:607008.0011
single nucleotide variant	NM_000016.6(ACADM):c.734C>T (p.Ser245Leu)	ACADM	Pathogenic/Likely pathogenic	1	76215129	76215129	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA220186,UniProtKB:P11310#VAR_013699,OMIM:607008.0012
single nucleotide variant	NM_000016.6(ACADM):c.157C>T (p.Arg53Cys)	ACADM	Pathogenic	1	76198367	76198367	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA220173,UniProtKB:P11310#VAR_000317