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.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.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.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
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.8969G>A	MT-ATP6	Likely pathogenic	MT	8969	8969	G	A	reviewed by expert panel	ClinGen:CA199769,OMIM:516060.0012
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
Inversion	NC_012920.1(MT-ND1):m.3902_3908inv	MT-ND1	Likely pathogenic	MT	3902	3908	ACCTTGC	GCAAGGT	reviewed by expert panel	ClinGen:CA082749,OMIM:516000.0009
single nucleotide variant	m.3697G>A	MT-ND1	Likely pathogenic	MT	3697	3697	G	A	reviewed by expert panel	ClinGen:CA120647,OMIM:516000.0012