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	m.3271T>C	MT-TL1	Pathogenic	MT	3271	3271	T	C	reviewed by expert panel	ClinGen:CA254839,OMIM:590050.0002
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.8313G>A	MT-TK	Likely pathogenic	MT	8313	8313	G	A	reviewed by expert panel	ClinGen:CA254837,OMIM:590060.0004
single nucleotide variant	m.8363G>A	MT-TK	Likely pathogenic	MT	8363	8363	G	A	reviewed by expert panel	ClinGen:CA120555,OMIM:590060.0003
single nucleotide variant	m.8356T>C	MT-TK	Likely pathogenic	MT	8356	8356	T	C	reviewed by expert panel	ClinGen:CA120554,OMIM:590060.0002
single nucleotide variant	m.8344A>G	MT-TK	Pathogenic	MT	8344	8344	A	G	reviewed by expert panel	ClinGen:CA254836,OMIM:590060.0001
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	m.586G>A	MT-TF	Pathogenic	MT	586	586	G	A	criteria provided, single submitter	ClinGen:CA128831,OMIM:590070.0006
single nucleotide variant	m.616T>C	MT-TF	Likely pathogenic	MT	616	616	T	C	reviewed by expert panel	ClinGen:CA120552,OMIM:590070.0004