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Items: 30

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
AADAT, ABCE1
+1310 more
Copy number gain
See cases
GPathogenic
AADAT, ABCE1
+1245 more
Copy number gain
See cases
GPathogenic
QKILA, RAB33B
+1102 more
Copy number gain
See cases
GPathogenic
LOC129993091, LOC129993092
+1068 more
Copy number gain
See cases
GPathogenic
LOC132090717, LOC132090718
+1051 more
Copy number gain
See cases
GPathogenic
LOC129993335, LOC129993336
+1026 more
Copy number gain
See cases
GPathogenic
AADAT, ABCE1
+903 more
Copy number gain
See cases
GPathogenic
AADAT, ACSL1
+553 more
Copy number gain
See cases
GPathogenic
MTNR1A, NAF1
+535 more
Copy number gain
See cases
GPathogenic
LOC129993482, LOC129993483
+509 more
Copy number loss
See cases
GPathogenic
LOC129993424, LOC129993425
+485 more
Copy number loss
See cases
GPathogenic
MIR4455, MIR548T
+466 more
Copy number loss
See cases
GPathogenic
AADAT, ADAM29
+178 more
Copy number loss
See cases
GPathogenic
LOC129993469, LOC129993470
+455 more
Copy number loss
See cases
GPathogenic
LOC129993480, LOC129993481
+451 more
Copy number gain
See cases
GPathogenic
AADAT, ACSL1
+386 more
Copy number loss
See cases
GPathogenic
AADAT, ACSL1
+399 more
Copy number loss
See cases
GPathogenic
SAP30-DT, SCRG1
+401 more
Copy number gain
See cases
GUncertain significance
LOC126807230, LOC126807231
+383 more
Copy number loss
See cases
GPathogenic
UFSP2, VEGFC
+375 more
Copy number loss
See cases
GPathogenic
ADAM29, AGA
+85 more
Copy number loss
See cases
GPathogenic
MIR4455, MIR548T
+369 more
Copy number gain
See cases
GPathogenic
ACSL1, ADAM29
+369 more
Copy number loss
See cases
GPathogenic
ACSL1, ADAM29
+372 more
Copy number loss
See cases
GPathogenic
ACSL1, ADAM29
+322 more
Copy number loss
See cases
GPathogenic
ACSL1, ADAM29
+330 more
Copy number loss
See cases
GPathogenic
ACSL1, ADAM29
+330 more
Copy number loss
See cases
GPathogenic
FLJ38576, FRG1
+339 more
Copy number loss
See cases
GPathogenic
ADAM29, AGA
+103 more
Copy number loss
See cases
GPathogenic
CEP44, GLRA3
+8 more
Copy number loss
See cases
GUncertain significance
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