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.14459G>A	MT-ND6	Pathogenic	MT	14459	14459	G	A	reviewed by expert panel	ClinGen:CA120625,OMIM:516006.0002
single nucleotide variant	m.14495A>G	MT-ND6	Likely pathogenic	MT	14495	14495	A	G	reviewed by expert panel	ClinGen:CA340933,OMIM:516006.0004
single nucleotide variant	m.14453G>A	MT-ND6	Likely pathogenic	MT	14453	14453	G	A	reviewed by expert panel	ClinGen:CA254853,OMIM:516006.0005
single nucleotide variant	m.14482C>A	MT-ND6	Likely pathogenic	MT	14482	14482	C	A	reviewed by expert panel	ClinGen:CA340934,OMIM:516006.0006
single nucleotide variant	m.14487T>C	MT-ND6	Pathogenic	MT	14487	14487	T	C	reviewed by expert panel	ClinGen:CA120627,OMIM:516006.0007
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.13513G>A	MT-ND5	Pathogenic	MT	13513	13513	G	A	reviewed by expert panel	ClinGen:CA120632,OMIM:516005.0007
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	NC_012920.1:m.3460G>A	MT-ND1	Pathogenic	MT	3460	3460	G	A	reviewed by expert panel	ClinGen:CA120646,OMIM:516000.0001
single nucleotide variant	m.4160T>C	MT-ND1	Pathogenic	MT	4160	4160	T	C	criteria provided, single submitter	ClinGen:CA340942,OMIM:516000.0002