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.985A>C (p.Lys329Gln)	ACADM	Pathogenic	1	76226846	76226846	A	C	criteria provided, single submitter	ClinGen:CA10576240
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.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.959C>A (p.Ser320Ter)	ACADM	Pathogenic/Likely pathogenic	1	76226820	76226820	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16040783
single nucleotide variant	NM_000016.6(ACADM):c.950A>T (p.Gln317Leu)	ACADM	Likely pathogenic	1	76226811	76226811	A	T	criteria provided, single submitter	-
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
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
Deletion	NC_000001.11:g.(?_75761102)_(75762783_?)del	ACADM	Pathogenic	1	76226787	76228468	na	na	criteria provided, single submitter	-
Deletion	NM_000016.6(ACADM):c.927del (p.Phe309fs)	ACADM	Pathogenic	1	76216213	76216213	TC	T	criteria provided, multiple submitters, no conflicts	-
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