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Items: 6

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
B3GAT3
(R317Q +1 more)
Single nucleotide variant
(missense variant +2 more)
not provided
+2 more
GUncertain significance
B3GAT3
(P284T +1 more)
Single nucleotide variant
(missense variant +1 more)
Larsen-like syndrome, B3GAT3 type
+1 more
GUncertain significance
B3GAT3
(G185E +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
+3 more
GUncertain significance
B3GAT3
(P61S +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
B3GAT3
(R52Q +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
B3GAT3
(M1T)
Single nucleotide variant
(5 prime UTR variant +3 more)
not provided
+1 more
GConflicting classifications of pathogenicity
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