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Items: 43

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC129929105, LOC129929106
+2149 more
Copy number gain
Trisomy 12p
GPathogenic
ATAD3C, AURKAIP1
+520 more
Copy number loss
See cases
GPathogenic
LOC129929144, LOC129929145
+458 more
Copy number loss
See cases
GPathogenic
ACAP3, ACTRT2
+336 more
Copy number loss
See cases
GPathogenic
LINC01786, LINC02593
+338 more
Copy number gain
See cases
GPathogenic
ACAP3, ACTRT2
+325 more
Copy number loss
See cases
GPathogenic
ACAP3, ACTRT2
+337 more
Copy number loss
See cases
GPathogenic
ATAD3A, ATAD3B
+341 more
Copy number loss
See cases
GPathogenic
ACAP3, ACOT7
+449 more
Copy number loss
See cases
GPathogenic
ACAP3, ACTRT2
+320 more
Copy number gain
See cases
GLikely pathogenic
ACAP3, ACTRT2
+337 more
Copy number loss
See cases
GPathogenic
SSU72, TAS1R3
+325 more
Copy number loss
See cases
GPathogenic
LOC129929188, LOC129929189
+332 more
Copy number gain
See cases
GPathogenic
ACAP3, ACOT7
+470 more
Copy number loss
See cases
GPathogenic
TMEM201, TMEM240
+806 more
Copy number loss
See cases
GPathogenic
ACAP3, ACOT7
+490 more
Copy number loss
See cases
GPathogenic
ACAP3, ACTRT2
+325 more
Copy number loss
See cases
GPathogenic
PLEKHN1, PRDM16
+441 more
Copy number loss
See cases
GPathogenic
ACAP3, ACTRT2
+329 more
Copy number loss
See cases
GPathogenic
ACAP3, ACOT7
+401 more
Copy number loss
See cases
GPathogenic
ACAP3, ACTRT2
+339 more
Copy number loss
See cases
GPathogenic
LOC129929181, LOC129929182
+401 more
Copy number loss
See cases
GPathogenic
ACAP3, ACTRT2
+341 more
Copy number gain
See cases
GPathogenic
ACAP3, ACOT7
+519 more
Copy number loss
See cases
GPathogenic
ACAP3, ACTRT2
+325 more
Copy number loss
See cases
GPathogenic
MIR429, MIR551A
+320 more
Copy number loss
See cases
GPathogenic
ACAP3, ACTRT2
+328 more
Copy number loss
See cases
GPathogenic
SDF4, SKI
+464 more
Copy number loss
See cases
GPathogenic
ACAP3, ACOT7
+578 more
Copy number loss
See cases
GPathogenic
ACAP3, ACOT7
+564 more
Copy number loss
See cases
GPathogenic
LOC129929186, LOC129929187
+577 more
Copy number loss
See cases
GPathogenic
ACAP3, ACTRT2
+301 more
Copy number loss
See cases
GPathogenic
ACAP3, ACTRT2
+273 more
Copy number loss
See cases
GPathogenic
ACAP3, ACTRT2
+273 more
Copy number loss
See cases
GPathogenic
LOC126805582, LOC126805583
+88 more
Copy number gain
Anomalous pulmonary venous return
GUncertain significance
ACTRT2, AJAP1
+79 more
Copy number loss
See cases
GPathogenic
ACOT7, ACTRT2
+226 more
Copy number loss
See cases
GPathogenic
LOC112577578, LOC112577579
+199 more
Copy number loss
See cases
GPathogenic
ACTRT2, AJAP1
+83 more
Copy number loss
See cases
GPathogenic
AADACL3, AADACL4
+804 more
Copy number loss
See cases
GPathogenic
ACOT7, AJAP1
+193 more
Copy number loss
See cases
GPathogenic
C1orf174, CCDC27
+28 more
Copy number gain
See cases
GUncertain significance
C1orf174, CCDC27
+27 more
Copy number gain
See cases
GPathogenic
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