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.199T>C (p.Tyr67His)	ACADM	Pathogenic/Likely pathogenic	1	76198409	76198409	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA252836,UniProtKB:P11310#VAR_013698,OMIM:607008.0011
single nucleotide variant	NM_000016.6(ACADM):c.216+1G>T	ACADM	Likely pathogenic	1	76198427	76198427	G	T	criteria provided, single submitter	ClinGen:CA16040774
single nucleotide variant	NM_000016.6(ACADM):c.216+2T>G	ACADM	Pathogenic	1	76198428	76198428	T	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA220175
single nucleotide variant	NM_000016.6(ACADM):c.217-1G>A	ACADM	Pathogenic	1	76198537	76198537	G	A	criteria provided, single submitter	-
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
Deletion	NM_000016.6(ACADM):c.224del (p.Val75fs)	ACADM	Likely pathogenic	1	76198545	76198545	GT	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA16040775
single nucleotide variant	NM_000016.6(ACADM):c.233T>C (p.Ile78Thr)	ACADM	Pathogenic	1	76198554	76198554	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA275237,UniProtKB:P11310#VAR_015954
Duplication	NM_000016.6(ACADM):c.244dup (p.Trp82fs)	ACADM	Pathogenic	1	76198564	76198565	C	CT	criteria provided, multiple submitters, no conflicts	ClinGen:CA274151
single nucleotide variant	NM_000016.6(ACADM):c.250C>T (p.Leu84Phe)	ACADM	Pathogenic/Likely pathogenic	1	76198571	76198571	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA913006
single nucleotide variant	NM_000016.6(ACADM):c.253G>A (p.Gly85Ser)	ACADM	Likely pathogenic	1	76198574	76198574	G	A	criteria provided, single submitter	ClinGen:CA220176