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Items: 23

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CECR7, GAB4
+116 more
Copy number gain
See cases
GPathogenic
LOC130066920, LOC130066917
+112 more
Copy number gain
See cases
GPathogenic
CCT8L2, CECR7
+30 more
Copy number gain
See cases
GUncertain significance
ADA2, ARVCF
+234 more
Copy number loss
See cases
GPathogenic
ADA2, CECR7
+107 more
Copy number gain
See cases
GPathogenic
ADA2, ATP6V1E1
+105 more
Copy number gain
Anomalous pulmonary venous return
GPathogenic
ADA2, ATP6V1E1
+105 more
Copy number gain
See cases
GPathogenic
ADA2, ATP6V1E1
+121 more
Copy number gain
See cases
GPathogenic
ADA2, CECR2
+45 more
Copy number gain
See cases
GLikely benign
ADA2, ARVCF
+227 more
Copy number loss
See cases
GPathogenic
ADA2, ARVCF
+227 more
Copy number gain
See cases
GPathogenic
LINC01664, LINC02891
+226 more
Copy number gain
See cases
GPathogenic
IL17RA, LINC01640
+2088 more
Copy number gain
See cases
GPathogenic
LOC130067034, LOC130067035
+535 more
Copy number gain
See cases
GPathogenic
ADA2, ATP6V1E1
+114 more
Copy number gain
See cases
GPathogenic
ADA2, ARVCF
+225 more
Copy number loss
See cases
GPathogenic
ADA2, ARVCF
+225 more
Copy number gain
See cases
GPathogenic
LOC132090637, LOC132090638
+292 more
Copy number gain
See cases
GPathogenic
ADA2, ATP6V1E1
+101 more
Copy number gain
See cases
GPathogenic
ADA2, ATP6V1E1
+114 more
Copy number gain
See cases
GPathogenic
ADA2, ATP6V1E1
+105 more
Copy number gain
See cases
GPathogenic
LOC130067403, LOC130067404
+2088 more
Copy number gain
See cases
GPathogenic
ADA2, ATP6V1E1
+151 more
Copy number gain
See cases
GPathogenic
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