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.5532G>A	MT-TW	Pathogenic	MT	5532	5532	G	A	criteria provided, single submitter	ClinGen:CA120542,OMIM:590095.0004
single nucleotide variant	m.5521G>A	MT-TW	Likely pathogenic	MT	5521	5521	G	A	reviewed by expert panel	ClinGen:CA254831,OMIM:590095.0003
Insertion	m.5537_5538insT	MT-TW	Pathogenic	MT	5537	5538	A	AT	criteria provided, single submitter	ClinGen:CA120541,OMIM:590095.0002
single nucleotide variant	m.1624C>T	MT-TV	Pathogenic/Likely pathogenic	MT	1624	1624	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA120537,OMIM:590105.0002
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.12258C>A	MT-TS2	Likely pathogenic	MT	12258	12258	C	A	reviewed by expert panel	ClinGen:CA120544,OMIM:590085.0001
single nucleotide variant	NC_012920.1:m.7462C>T	MT-TS1	Pathogenic	MT	7462	7462	C	T	criteria provided, single submitter	-
Duplication	NC_012920.1:m.7471dup	MT-TS1	Pathogenic	MT	7465	7466	A	AC	reviewed by expert panel	ClinGen:CA214937,OMIM:590080.0003
single nucleotide variant	NC_012920.1:m.7505T>C	MT-TS1	Pathogenic	MT	7505	7505	T	C	criteria provided, single submitter	ClinGen:CA261262,OMIM:590080.0009
single nucleotide variant	m.7497G>A	MT-TS1	Likely pathogenic	MT	7497	7497	G	A	reviewed by expert panel	ClinGen:CA120548,OMIM:590080.0008