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Items: 11

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC130061805, LOC130061806
+1033 more
Copy number gain
See cases
GPathogenic
AANAT, AATK
+1013 more
Copy number gain
See cases
GPathogenic
AATK, ACTG1
+513 more
Copy number gain
See cases
GPathogenic
LOC126862671, LOC126862672
+387 more
Copy number gain
See cases
GPathogenic
AATK, ACTG1
+385 more
Copy number gain
See cases
GPathogenic
AATK, ACTG1
+262 more
Copy number gain
See cases
GPathogenic
LOC130062002, LOC130062003
+226 more
Copy number loss
See cases
GLikely pathogenic
LOC130062008, LOC130062009
+95 more
Copy number gain
See cases
GUncertain significance
ASPSCR1, B3GNTL1
+130 more
Copy number loss
Anomalous pulmonary venous return
GUncertain significance
B3GNTL1, CCDC57
+112 more
Copy number loss
See cases
GLikely pathogenic
CCDC57, CD7
+73 more
Copy number gain
See cases
GUncertain significance
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