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.1221_1222del (p.Arg408fs)	ACADM	Pathogenic/Likely pathogenic	1	76228402	76228403	CAA	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA10576246
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.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.1194+1G>A	ACADM	Pathogenic	1	76227056	76227056	G	A	criteria provided, multiple submitters, no conflicts	-
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
single nucleotide variant	NM_000016.6(ACADM):c.1189T>A (p.Tyr397Asn)	ACADM	Pathogenic/Likely pathogenic	1	76227050	76227050	T	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA913287
Duplication	NM_000016.6(ACADM):c.1189dup (p.Tyr397fs)	ACADM	Pathogenic	1	76227049	76227050	C	CT	criteria provided, multiple submitters, no conflicts	ClinGen:CA913286
single nucleotide variant	NM_000016.6(ACADM):c.1150G>T (p.Glu384Ter)	ACADM	Pathogenic/Likely pathogenic	1	76227011	76227011	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA913280
single nucleotide variant	NM_000016.6(ACADM):c.1124T>C (p.Ile375Thr)	ACADM	Likely pathogenic	1	76226985	76226985	T	C	criteria provided, single submitter	ClinGen:CA252826,UniProtKB:P11310#VAR_000327,OMIM:607008.0004
Duplication	NM_000016.6(ACADM):c.1114dup (p.Ala372fs)	ACADM	Pathogenic	1	76226974	76226975	T	TG	criteria provided, multiple submitters, no conflicts	ClinGen:CA16040786