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Items: 15

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ABAT, ABCA3
+822 more
Copy number gain
See cases
GPathogenic
EEF2KMT, ELOB
+917 more
Copy number gain
See cases
GPathogenic
LOC125146383, LOC125146384
+556 more
Copy number gain
See cases
GPathogenic
ABAT, ABCA3
+843 more
Copy number gain
See cases
GPathogenic
ABAT, ABCA3
+926 more
Copy number gain
See cases
GPathogenic
ADCY9, BICDL2
+180 more
Copy number gain
See cases
GPathogenic
ADCY9, ALG1
+262 more
Copy number loss
See cases
GPathogenic
ADCY9, C16orf90
+50 more
Copy number gain
See cases
GLikely pathogenic
ADCY9, C16orf90
+29 more
Copy number gain
See cases
GPathogenic
ADCY9, CREBBP
+35 more
Copy number loss
See cases
GPathogenic
CORO7-PAM16, LOC121530613
+40 more
Deletion
See cases
GPathogenic
ADCY9, C16orf96
+54 more
Copy number gain
See cases
GUncertain significance
ADCY9, C16orf96
+51 more
Copy number gain
See cases
GPathogenic
LOC130058360, LOC130058361
+66 more
Deletion
Rubinstein-Taybi syndrome
GPathogenic
ADCY9, C16orf96
+49 more
Copy number loss
See cases
GPathogenic
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