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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
HPSE2
(R506* +2 more)
Single nucleotide variant
(nonsense)
not provided
+1 more
GPathogenic/Likely pathogenic
HPSE2
(N377fs +2 more)
Deletion
(frameshift variant)
Urofacial syndrome type 1
+1 more
GPathogenic/Likely pathogenic