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Items: 1 to 100 of 297

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ADCYAP1, AFG3L2
+379 more
Copy number gain
See cases
GPathogenic
ADCYAP1, AFG3L2
+373 more
Copy number gain
See cases
GPathogenic
ADCYAP1, AFG3L2
+378 more
Copy number loss
See cases
GPathogenic
LINC00668, LINC01254
+379 more
Copy number gain
See cases
GPathogenic
ABHD3, ACAA2
+1646 more
Copy number gain
See cases
GPathogenic
ADCYAP1, AFG3L2
+368 more
Copy number loss
See cases
GPathogenic
ADCYAP1, AKAIN1
+195 more
Copy number loss
See cases
GPathogenic
LOC129390958, LOC130062070
+300 more
Copy number gain
See cases
GUncertain significance
NDUFV2-AS1, PIEZO2
+374 more
Copy number loss
See cases
GPathogenic
ADCYAP1, AKAIN1
+184 more
Copy number loss
See cases
GPathogenic
LOC126862711, LOC126862712
+1643 more
Copy number gain
See cases
GPathogenic
LOC130062167, LOC130062168
+367 more
Copy number loss
See cases
GPathogenic
LOC125338465, LOC125338466
+367 more
Copy number gain
See cases
GPathogenic
ADCYAP1, AKAIN1
+237 more
Copy number loss
See cases
GPathogenic
LOC130062104, LOC130062105
+368 more
Copy number loss
See cases
GPathogenic
ADCYAP1, AFG3L2
+374 more
Copy number loss
See cases
GPathogenic
ADCYAP1, AFG3L2
+367 more
Copy number loss
See cases
GPathogenic
LOC130062144, LOC130062145
+368 more
Copy number gain
See cases
GPathogenic
ADCYAP1, AFG3L2
+374 more
Copy number gain
See cases
GPathogenic
LOC130062667, LOC130062668
+1643 more
Copy number gain
See cases
GPathogenic
ADCYAP1, AFG3L2
+374 more
Copy number gain
See cases
GPathogenic
LOC130062278, LOC130062279
+1643 more
Copy number gain
See cases
GPathogenic
ADCYAP1, AFG3L2
+367 more
Copy number loss
See cases
GPathogenic
LOC126862732, LOC126862733
+1643 more
Copy number gain
See cases
GPathogenic
ADCYAP1, AKAIN1
+245 more
Copy number loss
See cases
GPathogenic
ADCYAP1, AFG3L2
+367 more
Copy number gain
See cases
GPathogenic
ADCYAP1, AFG3L2
+327 more
Copy number loss
See cases
GPathogenic
ADCYAP1, AFG3L2
+344 more
Copy number loss
See cases
GPathogenic
ANKRD12, ANKRD29
+1642 more
Copy number gain
See cases
GPathogenic
SLC35G4, SMCHD1
+375 more
Copy number gain
See cases
GPathogenic
LOC129390955, LOC129390956
+358 more
Copy number loss
See cases
GPathogenic
ADCYAP1, AFG3L2
+367 more
Copy number loss
See cases
GPathogenic
SERPINB12, SERPINB13
+1643 more
Copy number gain
See cases
GPathogenic
LOC125368553, LOC125368554
+1643 more
Copy number gain
See cases
GPathogenic
LOC130062355, LOC130062356
+1642 more
Copy number gain
See cases
GPathogenic
ADCYAP1, AFG3L2
+367 more
Copy number loss
Deletion of short arm of chromosome 18
GPathogenic
ADCYAP1, AKAIN1
+241 more
Copy number loss
See cases
GPathogenic
AKAIN1, ANKRD12
+246 more
Copy number loss
See cases
GPathogenic
LOC130062147, LOC130062148
+339 more
Copy number gain
See cases
GPathogenic
AKAIN1, ANKRD12
+230 more
Copy number gain
See cases
GPathogenic
ANKRD12, ARHGAP28
+47 more
Copy number gain
See cases
GUncertain significance
ANKRD12, GACAT2
+67 more
Copy number loss
See cases
GPathogenic
AFG3L2, ANKRD12
+164 more
Copy number loss
See cases
GLikely pathogenic
ANKRD12, GACAT2
+39 more
Copy number gain
See cases
GPathogenic
MTCL1, GACAT2
Single nucleotide variant
(synonymous variant)
Cerebellar ataxia
GBenign
GACAT2, MTCL1
(P311A)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MTCL1
(Q17* +1 more)
Single nucleotide variant
(nonsense)
Cerebellar ataxia
GPathogenic
MTCL1
(A26T +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
MTCL1
(S404G +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
MTCL1
(R97Q +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
MTCL1
(Q471R +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
LOC130062208, LOC130062209
+322 more
Copy number gain
See cases
GPathogenic
MTCL1
(A152G +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
MTCL1
(E529K +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
MTCL1
(Y540C +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
MTCL1
(K541N +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
MTCL1
(T202A +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
MTCL1
(E206K +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
MTCL1
(L569V +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
MTCL1
(R583W +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
MTCL1
(R233C +1 more)
Single nucleotide variant
(missense variant)
Autosomal dominant cerebellar ataxia
GUncertain significance
MTCL1
(R603Q +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
MTCL1
(R248Q +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
MTCL1
(P611L +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GLikely benign
MTCL1
(P611R +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
MTCL1
(R613W +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
MTCL1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
MTCL1
(R276C +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
MTCL1
(E282G +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
MTCL1
(L287F +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
MTCL1
(R289W +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
MTCL1
(R289Q +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
MTCL1
(R315W +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
MTCL1
(A324G +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
MTCL1
(P326S +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
MTCL1
(A688T +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
MTCL1
(G329R +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
MTCL1
(A332D +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
MTCL1
(Q335P +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
MTCL1
(R702S +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
MTCL1
(L355Q +1 more)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
MTCL1
(A373T +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
MTCL1
(H734Y +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
MTCL1
(R383Q +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
MTCL1
(A391V +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
MTCL1
(K754E +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
MTCL1
(R402C +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
MTCL1
(R402H +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
MTCL1
(E420D +1 more)
Single nucleotide variant
(missense variant)
not provided
GBenign
MTCL1
(S434L +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
MTCL1
(L444F +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
MTCL1
(K818Q +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
MTCL1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
MTCL1
(E460K +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
MTCL1
(R826W +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
MTCL1
(T467M +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
MTCL1
(R470C +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
MTCL1
(R485W +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
MTCL1
(G486A +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GLikely benign
MTCL1
(P851L +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
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