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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
NUP133
(Q998fs)
Duplication
(frameshift variant)
Galloway-Mowat syndrome 8
GLikely pathogenic
NUP133
(Q406*)
Single nucleotide variant
(nonsense)
Microcephaly
+2 more
GUncertain significance