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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LMX1B
(V331M +1 more)
Single nucleotide variant
(missense variant)
Nail-patella-like renal disease
+2 more
GUncertain significance
LMX1B
Copy number loss
Developmental and epileptic encephalopathy, 4
GPathogenic