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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ECEL1
(G511S)
Single nucleotide variant
(missense variant)
Distal arthrogryposis type 5D
GLikely pathogenic
ECEL1
(R418H)
Single nucleotide variant
(missense variant)
Distal arthrogryposis type 5D
GLikely pathogenic