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
single nucleotide variant	NC_012920.1:m.13051G>A	MT-ND5	Pathogenic/Likely pathogenic	MT	13051	13051	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA414816093
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.3242G>A	MT-TL1	Pathogenic/Likely pathogenic	MT	3242	3242	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA280144,OMIM:590050.0012
single nucleotide variant	NC_012920.1:m.3243A>G	MT-TL1	Pathogenic/Likely pathogenic	MT	3243	3243	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA120560,OMIM:590050.0001
single nucleotide variant	m.7512T>C	MT-TS1	Pathogenic/Likely pathogenic	MT	7512	7512	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA120546,OMIM:590080.0001
single nucleotide variant	m.1624C>T	MT-TV	Pathogenic/Likely pathogenic	MT	1624	1624	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA120537,OMIM:590105.0002
single nucleotide variant	NC_012920.1:m.7462C>T	MT-TS1	Pathogenic	MT	7462	7462	C	T	criteria provided, single submitter	-
single nucleotide variant	NC_012920.1:m.3481G>A	MT-ND1	Pathogenic	MT	3481	3481	G	A	criteria provided, single submitter	ClinGen:CA345910
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	NC_012920.1:m.7505T>C	MT-TS1	Pathogenic	MT	7505	7505	T	C	criteria provided, single submitter	ClinGen:CA261262,OMIM:590080.0009