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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CUL7
(G1510V +2 more)
Single nucleotide variant
(missense variant)
not provided
GLikely pathogenic
CUL7
(Y864* +2 more)
Single nucleotide variant
(nonsense)
not provided
GLikely pathogenic
CUL7
(E806K +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
CUL7
(V88fs)
Deletion
(frameshift variant)
not provided
GLikely pathogenic
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