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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
GDF5, GDF5-AS1
(C400Y)
Single nucleotide variant
(missense variant +1 more)
Brachydactyly type A1C
GLikely pathogenic
GDF5, GDF5-AS1
(R301*)
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
+1 more
GPathogenic/Likely pathogenic