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
Deletion	NC_000001.11:g.(?_75541435)_(76074884_?)del	ACADM	Pathogenic	1	76007120	76540569	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_000016.6(ACADM):c.1A>G (p.Met1Val)	ACADM	Pathogenic/Likely pathogenic	1	76190473	76190473	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA16040771
single nucleotide variant	NM_000016.6(ACADM):c.3G>C (p.Met1Ile)	ACADM	Pathogenic/Likely pathogenic	1	76190475	76190475	G	C	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000016.6(ACADM):c.30+2T>C	ACADM	Pathogenic/Likely pathogenic	1	76190504	76190504	T	C	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_000016.6(ACADM):c.47del (p.Ser16fs)	ACADM	Pathogenic	1	76194102	76194102	TC	T	criteria provided, single submitter	ClinGen:CA658795477
single nucleotide variant	NM_000016.6(ACADM):c.67C>T (p.Gln23Ter)	ACADM	Pathogenic	1	76194122	76194122	C	T	criteria provided, single submitter	-
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.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.157C>T (p.Arg53Cys)	ACADM	Pathogenic	1	76198367	76198367	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA220173,UniProtKB:P11310#VAR_000317
Deletion	NM_000016.6(ACADM):c.165del (p.Phe55fs)	ACADM	Pathogenic/Likely pathogenic	1	76198373	76198373	AT	A	criteria provided, multiple submitters, no conflicts	-