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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
HPSE2
Single nucleotide variant
(splice acceptor variant)
Congenital anomaly of kidney and urinary tract
GPathogenic
HPSE2
(R153*)
Single nucleotide variant
(nonsense +1 more)
not provided
GPathogenic