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Items: 37

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC129935343, LOC129935344
+1703 more
Copy number gain
See cases
GPathogenic
AAMP, ABCA12
+1687 more
Copy number gain
See cases
GPathogenic
LOC129935726, LOC129935727
+1665 more
Copy number gain
See cases
GPathogenic
AAMP, ABCA12
+1148 more
Copy number gain
See cases
GPathogenic
LOC110120629, LOC110120691
+986 more
Copy number gain
See cases
GPathogenic
LOC129935966, LOC129935967
+630 more
Copy number gain
See cases
GPathogenic
LOC132088828, LOC132088829
+576 more
Copy number gain
See cases
GPathogenic
LOC129935965, LOC129935966
+455 more
Copy number loss
See cases
GPathogenic
ACKR3, AGAP1
+455 more
Copy number loss
See cases
GPathogenic
ACKR3, AGAP1
+361 more
Copy number loss
See cases
GPathogenic
RAB17-DT, RAMP1
+359 more
Copy number loss
See cases
GPathogenic
GBX2, GBX2-AS1
+180 more
Copy number loss
See cases
GPathogenic
LOC132090688, LOC132090689
+325 more
Copy number loss
See cases
GPathogenic
LOC126806577, LOC126806578
+334 more
Copy number loss
See cases
GPathogenic
HDAC4, HDAC4-AS1
+334 more
Copy number loss
See cases
GPathogenic
PRLH, PRR21
+325 more
Copy number loss
See cases
GPathogenic
ACKR3, AGAP1
+318 more
Copy number loss
See cases
GPathogenic
ACKR3, AGAP1
+314 more
Copy number loss
See cases
GPathogenic
ACKR3, AGAP1
+311 more
Copy number gain
See cases
GPathogenic
ACKR3, AGAP1
+309 more
Copy number loss
See cases
GPathogenic
ACKR3, AGAP1
+303 more
Copy number gain
See cases
GPathogenic
ACKR3, AGAP1
+288 more
Copy number loss
See cases
GPathogenic
ACKR3, AGAP1
+298 more
Copy number loss
See cases
GPathogenic
ACKR3, AGAP1
+144 more
Copy number loss
See cases
GPathogenic
ACKR3, AGAP1
+288 more
Copy number loss
See cases
GPathogenic
LOC122889015, LOC122889016
+287 more
Copy number loss
See cases
GPathogenic
ACKR3, AGXT
+276 more
Copy number loss
See cases
GPathogenic
GPC1-AS1, GPR35
+274 more
Deletion
Chromosome 2q37 deletion syndrome
GPathogenic
AGXT, ANKMY1
+274 more
Copy number loss
See cases
GPathogenic
AGXT, ANKMY1
+271 more
Copy number loss
See cases
GPathogenic
AGXT, ANKMY1
+270 more
Copy number loss
See cases
GPathogenic
AGXT, ANKMY1
+264 more
Copy number loss
See cases
GPathogenic
LOC129935970, LOC129935971
+251 more
Copy number loss
See cases
GPathogenic
ERFE, ESPNL
+42 more
Copy number gain
See cases
GUncertain significance
COPS9, CROCC2
+250 more
Copy number loss
See cases
GPathogenic
ASB1, COPS9
+102 more
Copy number gain
See cases
GPathogenic
AGXT, ANKMY1
+235 more
Copy number loss
See cases
GPathogenic
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