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.3252A>G	MT-TL1	Likely pathogenic	MT	3252	3252	A	G	criteria provided, single submitter	ClinGen:CA120564,OMIM:590050.0005
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.3260A>G	MT-TL1	Pathogenic	MT	3260	3260	A	G	criteria provided, single submitter	ClinGen:CA120566,OMIM:590050.0007
single nucleotide variant	m.3242G>A	MT-TL1	Pathogenic/Likely pathogenic	MT	3242	3242	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA280144,OMIM:590050.0012
single nucleotide variant	m.12147G>A	MT-TH	Likely pathogenic	MT	12147	12147	G	A	reviewed by expert panel	ClinGen:CA120576,OMIM:590040.0003
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.14484T>C	MT-ND6	Pathogenic	MT	14484	14484	T	C	reviewed by expert panel	ClinGen:CA340932,OMIM:516006.0001