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	NM_000016.6(ACADM):c.1073del (p.Lys358fs)	ACADM	Likely pathogenic	1	76226932	76226932	CA	C	criteria provided, single submitter	ClinGen:CA16040785
single nucleotide variant	NM_000016.6(ACADM):c.1195-2A>T	ACADM	Likely pathogenic	1	76228375	76228375	A	T	criteria provided, single submitter	ClinGen:CA16040787
single nucleotide variant	NM_000016.6(ACADM):c.739A>G (p.Thr247Ala)	ACADM	Likely pathogenic	1	76215134	76215134	A	G	criteria provided, single submitter	ClinGen:CA16042329
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.218A>G (p.Tyr73Cys)	ACADM	Likely pathogenic	1	76198539	76198539	A	G	criteria provided, single submitter	ClinGen:CA16603753
single nucleotide variant	NM_000016.6(ACADM):c.708+1G>A	ACADM	Likely pathogenic	1	76211600	76211600	G	A	criteria provided, single submitter	ClinGen:CA340816332
single nucleotide variant	NM_000016.6(ACADM):c.913G>T (p.Glu305Ter)	ACADM	Likely pathogenic	1	76216199	76216199	G	T	criteria provided, single submitter	ClinGen:CA340817122
Duplication	NC_000001.10:g.(?_76211471)_(76211619_?)dup	ACADM	Likely pathogenic	1	76211471	76211619	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_000016.6(ACADM):c.469-2A>C	ACADM	Likely pathogenic	1	76205663	76205663	A	C	criteria provided, single submitter	-
single nucleotide variant	NM_000016.6(ACADM):c.708+2T>G	ACADM	Likely pathogenic	1	76211601	76211601	T	G	criteria provided, single submitter	-