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.7511T>C	MT-TS1	Likely pathogenic	MT	7511	7511	T	C	reviewed by expert panel	ClinGen:CA340922,OMIM:590080.0005
single nucleotide variant	m.7510T>C	MT-TS1	Likely pathogenic	MT	7510	7510	T	C	reviewed by expert panel	ClinGen:CA340921,OMIM:590080.0004
single nucleotide variant	m.7512T>C	MT-TS1	Pathogenic/Likely pathogenic	MT	7512	7512	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA120546,OMIM:590080.0001
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	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.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.3252A>G	MT-TL1	Likely pathogenic	MT	3252	3252	A	G	criteria provided, single submitter	ClinGen:CA120564,OMIM:590050.0005
single nucleotide variant	m.3303C>T	MT-TL1	Likely pathogenic	MT	3303	3303	C	T	reviewed by expert panel	ClinGen:CA120562,OMIM:590050.0004
single nucleotide variant	m.3256C>T	MT-TL1	Likely pathogenic	MT	3256	3256	C	T	reviewed by expert panel	ClinGen:CA120561,OMIM:590050.0003