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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
RSPO2
(E137* +2 more)
Single nucleotide variant
(nonsense)
Tetraamelia syndrome 2
GPathogenic
RSPO2
(G42fs)
Deletion
(5 prime UTR variant +2 more)
Tetraamelia syndrome 2
GLikely pathogenic