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Items: 8

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
GDF5, GDF5-AS1
(Y490H)
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GUncertain significance
GDF5, GDF5-AS1
(N445S)
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GUncertain significance
GDF5, GDF5-AS1
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GConflicting classifications of pathogenicity
GDF5, GDF5-AS1
(G389V)
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GUncertain significance
GDF5
Single nucleotide variant
(synonymous variant)
Acromesomelic dysplasia 2C, Hunter-Thompson type
+6 more
GBenign/Likely benign
GDF5
Single nucleotide variant
(synonymous variant)
Brachydactyly
+6 more
GBenign/Likely benign
GDF5
(L53fs)
Deletion
(frameshift variant)
Type A2 brachydactyly
+1 more
GPathogenic
GDF5
(F9L)
Single nucleotide variant
(missense variant)
Brachydactyly
+5 more
GUncertain significance
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