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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LBR
(N547S)
Single nucleotide variant
(missense variant)
LBR-related condition
+4 more
GConflicting classifications of pathogenicity
LBR
(R76*)
Single nucleotide variant
(nonsense)
Anadysplasia-like, spontaneously remitting spondylometaphyseal dysplasia
+1 more
GPathogenic