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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PBX1
(I53fs)
Duplication
(frameshift variant +1 more)
Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay
GLikely pathogenic
PBX1
(V140fs +1 more)
Duplication
(frameshift variant)
Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay
GPathogenic