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.3635G>A	MT-ND1	Likely pathogenic	MT	3635	3635	G	A	reviewed by expert panel	ClinGen:CA344827
single nucleotide variant	NC_012920.1:m.3481G>A	MT-ND1	Pathogenic	MT	3481	3481	G	A	criteria provided, single submitter	ClinGen:CA345910
single nucleotide variant	NC_012920.1:m.3890G>A	MT-ND1	Likely pathogenic	MT	3890	3890	G	A	reviewed by expert panel	ClinGen:CA345911
single nucleotide variant	NC_012920.1:m.13514A>G	MT-ND5	Likely pathogenic	MT	13514	13514	A	G	reviewed by expert panel	ClinGen:CA345918
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.3291T>C	MT-TL1	Likely pathogenic	MT	3291	3291	T	C	reviewed by expert panel	-
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	NC_012920.1:m.7462C>T	MT-TS1	Pathogenic	MT	7462	7462	C	T	criteria provided, single submitter	-