S I D E B A R
Format
Items per page
Sort by

Download:

Choose Destination

Links from Gene

Items: 11

VariationLocationGene(s)Condition(s)Clinical significance
(Last reviewed)
Review status
1.
GRCh37:
ChrMT:11263-15374
GRCh38:
ChrMT:11263-15374
MT-CYB, MT-ND4, MT-ND5, MT-ND6, MT-TE, MT-TH, MT-TL2, MT-TS2Mitochondrial diseasesPathogenic
(May 22, 2017)
no assertion criteria provided
2.
GRCh37:
ChrMT:10106-15067
GRCh38:
ChrMT:10106-15067
Mitochondrial diseasesPathogenic
(May 22, 2017)
no assertion criteria provided
3.
GRCh37:
ChrMT:8839-14895
GRCh38:
ChrMT:8839-14895
Mitochondrial diseasesPathogenic
(May 22, 2017)
no assertion criteria provided
4.
GRCh37:
ChrMT:6469-15587
GRCh38:
ChrMT:6469-15587
Mitochondrial diseasesPathogenic
(May 22, 2017)
no assertion criteria provided
5.
GRCh37:
ChrMT:14706
GRCh38:
ChrMT:14706
MT-TESudden death, Episodic vomiting, Developmental delay,
Mild liver congestion
Uncertain significance
(Nov 21, 2016)
no assertion criteria provided
6.
GRCh37:
ChrMT:14692
GRCh38:
ChrMT:14692
MT-TEDiabetes-deafness syndrome maternally transmittedPathogenic
(Oct 25, 2016)
no assertion criteria provided
7.
GRCh37:
ChrMT:5794-14876
GRCh38:
ChrMT:5794-14876
Dilated cardiomyopathy, Macrocytic dyserythropoietic anemiaLikely pathogenic
(Nov 4, 2014)
criteria provided, single submitter
8.
GRCh37:
ChrMT:14732
GRCh38:
ChrMT:14732
MT-TEFamilial cancer of breastLikely pathogenicno assertion criteria provided
9.
GRCh37:
ChrMT:14674
GRCh38:
ChrMT:14674
MT-TEMitochondrial myopathy, infantile, transientPathogenic
(Dec 1, 2010)
no assertion criteria provided
10.
GRCh37:
ChrMT:14674
GRCh38:
ChrMT:14674
MT-TEMitochondrial myopathy, infantile, transient, Mitochondrial diseases, not provided
Pathogenic
(May 22, 2017)
criteria provided, single submitter
11.
GRCh37:
ChrMT:14709
GRCh38:
ChrMT:14709
MT-TEDiabetes-deafness syndrome maternally transmitted, Mitochondrial diseases, Myopathy, mitochondrial, with diabetes mellitus
Pathogenic
(May 22, 2017)
no assertion criteria provided
Format
Items per page
Sort by

Download:

Choose Destination
Support Center