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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
GDF5
(A117fs)
Deletion
(frameshift variant)
Brachydactyly type C
GPathogenic
MAFB
(T62A)
Single nucleotide variant
(missense variant)
Multicentric carpo-tarsal osteolysis with or without nephropathy
GPathogenic