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Items: 10

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC129389216, LOC129389217
+757 more
Copy number gain
See cases
GPathogenic
LOC129992695, LOC129992696
+533 more
Copy number gain
See cases
GPathogenic
ABCG2, ABRAXAS1
+338 more
Copy number loss
Chromosome 4q21 deletion syndrome
GPathogenic
ABCG2, ABRAXAS1
+335 more
Copy number loss
See cases
GPathogenic
ABCG2, ABRAXAS1
+244 more
Copy number loss
See cases
GPathogenic
ATOH1, GRID2
+14 more
Copy number loss
See cases
GUncertain significance
ADH1A, ADH1B
+123 more
Copy number loss
See cases
GPathogenic
ATOH1, GRID2
+7 more
Copy number loss
See cases
GUncertain significance
HPGDS, LOC112997547
+7 more
Copy number gain
See cases
GUncertain significance
LOC129992843, SMARCAD1
+1 more
Complex
Basan syndrome
GPathogenic
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