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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
TBX6
(W233C)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
TBX6
(R194H)
Single nucleotide variant
(missense variant)
Spondylocostal dysostosis 5
GUncertain significance
TBX6
(R150C)
Single nucleotide variant
(missense variant)
Spondylocostal dysostosis 5
GUncertain significance
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