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.250C>T (p.Leu84Phe)	ACADM	Pathogenic/Likely pathogenic	1	76198571	76198571	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA913006
Duplication	NM_000016.6(ACADM):c.107_113dup (p.Ser38delinsArgIleTer)	ACADM	Pathogenic/Likely pathogenic	1	76194157	76194158	A	ATTAGGAT	criteria provided, multiple submitters, no conflicts	ClinGen:CA10576218
single nucleotide variant	NM_000016.6(ACADM):c.1052C>T (p.Thr351Ile)	ACADM	Pathogenic/Likely pathogenic	1	76226913	76226913	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA312184
single nucleotide variant	NM_000016.6(ACADM):c.698T>C (p.Ile233Thr)	ACADM	Pathogenic/Likely pathogenic	1	76211589	76211589	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA312175
Deletion	NM_000016.6(ACADM):c.426del (p.Lys143fs)	ACADM	Pathogenic	1	76200514	76200514	AG	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA312202
single nucleotide variant	NM_000016.6(ACADM):c.443G>A (p.Arg148Lys)	ACADM	Pathogenic/Likely pathogenic	1	76200531	76200531	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA303029
single nucleotide variant	NM_000016.6(ACADM):c.287-1G>C	ACADM	Pathogenic	1	76199212	76199212	G	C	criteria provided, single submitter	ClinGen:CA275290
single nucleotide variant	NM_000016.6(ACADM):c.1045C>T (p.Arg349Ter)	ACADM	Pathogenic/Likely pathogenic	1	76226906	76226906	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA274261
single nucleotide variant	NM_000016.6(ACADM):c.977T>C (p.Met326Thr)	ACADM	Pathogenic/Likely pathogenic	1	76226838	76226838	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA274268,UniProtKB:P11310#VAR_000324
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