ミトコンドリア病

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
Inversion	NC_012920.1(MT-ND1):m.3902_3908inv	MT-ND1	Likely pathogenic	MT	3902	3908	ACCTTGC	GCAAGGT	reviewed by expert panel	ClinGen:CA082749,OMIM:516000.0009
single nucleotide variant	m.3697G>A	MT-ND1	Likely pathogenic	MT	3697	3697	G	A	reviewed by expert panel	ClinGen:CA120647,OMIM:516000.0012
single nucleotide variant	m.3946G>A	MT-ND1	Pathogenic/Likely pathogenic	MT	3946	3946	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA254862,OMIM:516000.0013
single nucleotide variant	m.12201T>C	MT-TH	Likely pathogenic	MT	12201	12201	T	C	reviewed by expert panel	ClinGen:CA259740,OMIM:590040.0004
single nucleotide variant	m.586G>A	MT-TF	Pathogenic	MT	586	586	G	A	criteria provided, single submitter	ClinGen:CA128831,OMIM:590070.0006
single nucleotide variant	NC_012920.1:m.9191T>C	MT-ATP6	Likely pathogenic	MT	9191	9191	T	C	reviewed by expert panel	ClinGen:CA345914
single nucleotide variant	NC_012920.1:m.7505T>C	MT-TS1	Pathogenic	MT	7505	7505	T	C	criteria provided, single submitter	ClinGen:CA261262,OMIM:590080.0009
Duplication	NC_012920.1:m.7471dup	MT-TS1	Pathogenic	MT	7465	7466	A	AC	reviewed by expert panel	ClinGen:CA214937,OMIM:590080.0003
single nucleotide variant	m.14482C>G	MT-ND6	Likely pathogenic	MT	14482	14482	C	G	reviewed by expert panel	ClinGen:CA344824
single nucleotide variant	m.14568C>T	MT-ND6	Likely pathogenic	MT	14568	14568	C	T	reviewed by expert panel	ClinGen:CA344825