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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
WDR19
(L710S +1 more)
Single nucleotide variant
(missense variant)
WDR19-related condition
+5 more
GPathogenic
WDR19
(R1103* +1 more)
Single nucleotide variant
(nonsense)
Asphyxiating thoracic dystrophy 5
+1 more
GPathogenic