中鎖アシルCoA脱水素酵素欠損症

小児・神経疾患

表のタイトル行が青色の項目は、クリックすることでソートすることができます。

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.1055A>G (p.Tyr352Cys)	ACADM	Pathogenic/Likely pathogenic	1	76226916	76226916	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA340818073
Deletion	NM_000016.6(ACADM):c.989_1010del (p.Val330fs)	ACADM	Pathogenic	1	76226850	76226871	GTTGAACTAGCTAGAATGAGTTA	G	criteria provided, single submitter	ClinGen:CA658656942
Deletion	NM_000016.6(ACADM):c.425del (p.Lys142fs)	ACADM	Pathogenic	1	76200510	76200510	CA	C	criteria provided, single submitter	ClinGen:CA658656941
single nucleotide variant	NM_000016.6(ACADM):c.1034A>T (p.Asp345Val)	ACADM	Pathogenic	1	76226895	76226895	A	T	criteria provided, single submitter	ClinGen:CA913267
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.1190A>C (p.Tyr397Ser)	ACADM	Pathogenic	1	76227051	76227051	A	C	criteria provided, single submitter	ClinGen:CA340818359
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.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	-