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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LMX1B
(R70fs)
Duplication
(frameshift variant)
not provided
+1 more
GPathogenic
LMX1B
(S241fs)
Deletion
(frameshift variant)
Nail-patella syndrome
GLikely pathogenic