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.286+2T>G	ACADM	Likely pathogenic	1	76198609	76198609	T	G	criteria provided, single submitter	-
single nucleotide variant	NM_000016.6(ACADM):c.287-2A>G	ACADM	Likely pathogenic	1	76199211	76199211	A	G	criteria provided, single submitter	ClinGen:CA16043645
single nucleotide variant	NM_000016.6(ACADM):c.287-1G>C	ACADM	Pathogenic	1	76199212	76199212	G	C	criteria provided, single submitter	ClinGen:CA275290
Deletion	NM_000016.6(ACADM):c.322_325del (p.Ile108fs)	ACADM	Pathogenic	1	76199245	76199248	TTTAA	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA913064
single nucleotide variant	NM_000016.6(ACADM):c.347G>A (p.Cys116Tyr)	ACADM	Pathogenic/Likely pathogenic	1	76199273	76199273	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10576226,UniProtKB:P11310#VAR_015955
Duplication	NM_000016.6(ACADM):c.355dup (p.Val119fs)	ACADM	Pathogenic/Likely pathogenic	1	76199277	76199278	A	AG	criteria provided, multiple submitters, no conflicts	ClinGen:CA16617185
single nucleotide variant	NM_000016.6(ACADM):c.387+1G>A	ACADM	Pathogenic	1	76199314	76199314	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16040777
single nucleotide variant	NM_000016.6(ACADM):c.387+1G>T	ACADM	Likely pathogenic	1	76199314	76199314	G	T	criteria provided, single submitter	ClinGen:CA16040778
Deletion	NM_000016.6(ACADM):c.425del (p.Lys142fs)	ACADM	Pathogenic	1	76200510	76200510	CA	C	criteria provided, single submitter	ClinGen:CA658656941
Deletion	NM_000016.6(ACADM):c.426del (p.Lys143fs)	ACADM	Pathogenic	1	76200514	76200514	AG	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA312202