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.3260A>G	MT-TL1	Pathogenic	MT	3260	3260	A	G	criteria provided, single submitter	ClinGen:CA120566,OMIM:590050.0007
single nucleotide variant	m.3251A>G	MT-TL1	Pathogenic	MT	3251	3251	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA120565,OMIM:590050.0006
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	m.8344A>G	MT-TK	Pathogenic	MT	8344	8344	A	G	reviewed by expert panel	ClinGen:CA254836,OMIM:590060.0001
single nucleotide variant	m.622G>A	MT-TF	Pathogenic	MT	622	622	G	A	criteria provided, single submitter	ClinGen:CA120551,OMIM:590070.0003
single nucleotide variant	m.12207G>A	MT-TS2	Pathogenic	MT	12207	12207	G	A	criteria provided, single submitter	ClinGen:CA120545,OMIM:590085.0002
single nucleotide variant	m.5532G>A	MT-TW	Pathogenic	MT	5532	5532	G	A	criteria provided, single submitter	ClinGen:CA120542,OMIM:590095.0004
Insertion	m.5537_5538insT	MT-TW	Pathogenic	MT	5537	5538	A	AT	criteria provided, single submitter	ClinGen:CA120541,OMIM:590095.0002
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.8969G>A	MT-ATP6	Likely pathogenic	MT	8969	8969	G	A	reviewed by expert panel	ClinGen:CA199769,OMIM:516060.0012