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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
UBR1
(C1369*)
Single nucleotide variant
(nonsense)
Johanson-Blizzard syndrome
GPathogenic
UBR1
Single nucleotide variant
(splice acceptor variant)
Johanson-Blizzard syndrome
GLikely pathogenic