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.13042G>A	MT-ND5	Likely pathogenic	MT	13042	13042	G	A	reviewed by expert panel	ClinGen:CA120633,OMIM:516005.0008
single nucleotide variant	m.12706T>C	MT-ND5	Likely pathogenic	MT	12706	12706	T	C	reviewed by expert panel	ClinGen:CA120628,OMIM:516005.0003
single nucleotide variant	m.12258C>A	MT-TS2	Likely pathogenic	MT	12258	12258	C	A	reviewed by expert panel	ClinGen:CA120544,OMIM:590085.0001
single nucleotide variant	m.12207G>A	MT-TS2	Pathogenic	MT	12207	12207	G	A	criteria provided, single submitter	ClinGen:CA120545,OMIM:590085.0002
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.12147G>A	MT-TH	Likely pathogenic	MT	12147	12147	G	A	reviewed by expert panel	ClinGen:CA120576,OMIM:590040.0003
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.9185T>C	MT-ATP6	Pathogenic	MT	9185	9185	T	C	reviewed by expert panel	ClinGen:CA340928,OMIM:516060.0008
single nucleotide variant	NC_012920.1:m.9176T>G	MT-ATP6	Likely pathogenic	MT	9176	9176	T	G	reviewed by expert panel	ClinGen:CA340929,OMIM:516060.0011