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.1195-1G>C	ACADM	Likely pathogenic	1	76228376	76228376	G	C	criteria provided, single submitter	-
single nucleotide variant	NM_000016.6(ACADM):c.286+2T>G	ACADM	Likely pathogenic	1	76198609	76198609	T	G	criteria provided, single submitter	-
Indel	NM_000016.6(ACADM):c.826_828delinsCC (p.Ala276fs)	ACADM	Likely pathogenic	1	76215221	76215223	GCT	CC	criteria provided, single submitter	-
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.454G>T (p.Glu152Ter)	ACADM	Likely pathogenic	1	76200542	76200542	G	T	criteria provided, single submitter	-
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
single nucleotide variant	NM_000016.6(ACADM):c.216+2T>G	ACADM	Pathogenic	1	76198428	76198428	T	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA220175
single nucleotide variant	NM_000016.6(ACADM):c.233T>C (p.Ile78Thr)	ACADM	Pathogenic	1	76198554	76198554	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA275237,UniProtKB:P11310#VAR_015954
Duplication	NM_000016.6(ACADM):c.244dup (p.Trp82fs)	ACADM	Pathogenic	1	76198564	76198565	C	CT	criteria provided, multiple submitters, no conflicts	ClinGen:CA274151
Deletion	NM_000016.6(ACADM):c.449_452del (p.Thr150fs)	ACADM	Pathogenic	1	76200534	76200537	ATGAC	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA274299,OMIM:607008.0016