ClinVar Miner

Variants from Wellcome Centre for Mitochondrial Research,Newcastle University

Location: United Kingdom — Primary collection method: clinical testing
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:

If a variant has more than one submission, it may be counted in more than one significance column. If this is the case, the total number of variants will be less than the sum of the other cells.

pathogenic likely pathogenic uncertain significance likely benign benign total
92 0 1 0 0 93

Gene and significance breakdown #

Total genes and gene combinations: 41
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Gene or gene combination pathogenic uncertain significance total
RMND1 9 0 9
TWNK 8 0 8
NDUFA6 6 0 6
POLG 6 0 6
DES 4 1 5
OPA1 5 0 5
MT-ATP6 4 0 4
GFM2 3 0 3
GFER 2 0 2
MT-ATP6, MT-CO3, MT-ND3, MT-ND4, MT-ND4L, MT-ND5, MT-TG, MT-TH, MT-TL2, MT-TR, MT-TS2 2 0 2
MT-ND5 2 0 2
MT-TA 2 0 2
MT-TE 2 0 2
MT-TL2 2 0 2
OXA1L 2 0 2
RRM2B 2 0 2
SLC25A4 2 0 2
SPG7 2 0 2
TMEM126B 2 0 2
TOP3A 2 0 2
TRMT10C 2 0 2
YARS2 2 0 2
ATP5F1D 1 0 1
LDB3 1 0 1
LDB3, LOC110121486 1 0 1
MT-ATP6, MT-ATP8, MT-CO1, MT-CO2, MT-CO3, MT-CYB, MT-ND3, MT-ND4, MT-ND4L, MT-ND5, MT-ND6, MT-TD, MT-TE, MT-TG, MT-TH, MT-TK, MT-TL2, MT-TR, MT-TS1, MT-TS2 1 0 1
MT-ATP6, MT-ATP8, MT-CO1, MT-CO2, MT-CO3, MT-ND3, MT-ND4, MT-ND4L, MT-ND5, MT-TD, MT-TG, MT-TH, MT-TK, MT-TL2, MT-TR, MT-TS1, MT-TS2 1 0 1
MT-ATP6, MT-ATP8, MT-CO1, MT-CO2, MT-CO3, MT-ND3, MT-ND4, MT-ND4L, MT-TD, MT-TG, MT-TK, MT-TR, MT-TS1 1 0 1
MT-ATP6, MT-ATP8, MT-CO2, MT-CO3, MT-ND3, MT-ND4, MT-ND4L, MT-TG, MT-TK, MT-TR 1 0 1
MT-ATP6, MT-ATP8, MT-CO3, MT-ND3, MT-ND4, MT-ND4L, MT-ND5, MT-TG, MT-TH, MT-TK, MT-TL2, MT-TR, MT-TS2 1 0 1
MT-ATP6, MT-ATP8, MT-CO3, MT-ND3, MT-ND4, MT-ND4L, MT-ND5, MT-TG, MT-TH, MT-TL2, MT-TR, MT-TS2 1 0 1
MT-ATP6, MT-CO3, MT-CYB, MT-ND3, MT-ND4, MT-ND4L, MT-ND5, MT-ND6, MT-TE, MT-TG, MT-TH, MT-TL2, MT-TR, MT-TS2 1 0 1
MT-CO2 1 0 1
MT-CYB, MT-ND3, MT-ND4, MT-ND4L, MT-ND5, MT-ND6, MT-TE, MT-TH, MT-TL2, MT-TR, MT-TS2 1 0 1
MT-CYB, MT-ND4, MT-ND5, MT-ND6, MT-TE, MT-TH, MT-TL2, MT-TS2 1 0 1
MT-ND4, MT-ND5, MT-ND6, MT-TH, MT-TL2, MT-TS2 1 0 1
MT-TK 1 0 1
MT-TL1 1 0 1
MYOT 1 0 1
PET100 1 0 1
SDHD 1 0 1

Condition and significance breakdown #

Total conditions: 5
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Condition pathogenic uncertain significance total
Mitochondrial diseases 81 0 81
Myofibrillar myopathy 7 1 8
Mitochondrial myopathy 2 0 2
Fatal infantile mitochondrial cardiomyopathy 1 0 1
Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency; Congenital lactic acidosis 1 0 1

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