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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
TNNI2
Microsatellite
(splice donor variant)
Distal arthrogryposis type 2B1
GUncertain significance
TNNI2
(S169*)
Duplication
(nonsense)
Distal arthrogryposis type 2B1
GLikely pathogenic