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.9176T>C	MT-ATP6	Pathogenic	MT	9176	9176	T	C	reviewed by expert panel	ClinGen:CA120597,OMIM:516060.0005
single nucleotide variant	NC_012920.1:m.8993T>C	MT-ATP6	Pathogenic	MT	8993	8993	T	C	reviewed by expert panel	OMIM:516060.0002,ClinGen:CA120596
single nucleotide variant	NC_012920.1:m.8969G>A	MT-ATP6	Likely pathogenic	MT	8969	8969	G	A	reviewed by expert panel	ClinGen:CA199769,OMIM:516060.0012
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.8313G>A	MT-TK	Likely pathogenic	MT	8313	8313	G	A	reviewed by expert panel	ClinGen:CA254837,OMIM:590060.0004
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.7511T>C	MT-TS1	Likely pathogenic	MT	7511	7511	T	C	reviewed by expert panel	ClinGen:CA340922,OMIM:590080.0005
single nucleotide variant	m.7510T>C	MT-TS1	Likely pathogenic	MT	7510	7510	T	C	reviewed by expert panel	ClinGen:CA340921,OMIM:590080.0004