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Items: 48

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
ADCYAP1, AKAIN1
+161 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
ZBTB14, ADCYAP1
+162 more
Copy number loss
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
+145 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, AKAIN1
+143 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
ADCYAP1, AKAIN1
+131 more
Copy number gain
See cases
GPathogenic
ADCYAP1, AKAIN1
+127 more
Copy number loss
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
LOC130062117, LOC130062118
+109 more
Copy number loss
See cases
GPathogenic
AKAIN1, EPB41L3
+10 more
Copy number loss
See cases
GUncertain significance
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