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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
B3GALT6
(R6Q)
Single nucleotide variant
(missense variant)
not provided
+5 more
GUncertain significance
B3GALT6
(P50A)
Single nucleotide variant
(missense variant)
Al-Gazali syndrome
+3 more
GUncertain significance
B3GALT6
(L299M)
Single nucleotide variant
(missense variant)
not provided
+4 more
GUncertain significance
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