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Items: 13

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ADGRV1, ALDH7A1
+682 more
Copy number loss
See cases
GPathogenic
ADAMTS19, ADAMTS19-AS1
+688 more
Copy number loss
See cases
GPathogenic
ABLIM3, ACSL6
+1672 more
Copy number loss
See cases
GPathogenic
AP3S1, APC
+340 more
Copy number loss
See cases
GPathogenic
ADAMTS19, ADAMTS19-AS1
+377 more
Copy number loss
See cases
GPathogenic
ALDH7A1, AP3S1
+317 more
Copy number loss
See cases
GPathogenic
AP3S1, ARL14EPL
+228 more
Copy number loss
See cases
GPathogenic
LOC129994580, LOC129994581
+336 more
Copy number loss
See cases
GPathogenic
DMXL1, DMXL1-DT
+84 more
Copy number gain
See cases
GUncertain significance
CEP120, CSNK1G3
+55 more
Copy number loss
See cases
GPathogenic
ALDH7A1, CEP120
+105 more
Copy number loss
See cases
GPathogenic
ALDH7A1, CEP120
+86 more
Copy number loss
See cases
GUncertain significance
LINC02201, LOC101927357
+6 more
Duplication
Lower urinary tract obstruction, congenital
GUncertain significance
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