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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ECEL1
(Y591* +1 more)
Single nucleotide variant
(nonsense)
Distal arthrogryposis type 5D
GLikely pathogenic
ECEL1
(W490*)
Single nucleotide variant
(nonsense)
See cases
+2 more
GPathogenic