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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CUL7
(W996* +1 more)
Single nucleotide variant
(nonsense)
not provided
+1 more
GPathogenic
CUL7
(R414* +1 more)
Single nucleotide variant
(nonsense)
3M syndrome 1
+1 more
GPathogenic