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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
BMP4
(I2F)
Single nucleotide variant
(missense variant +1 more)
Aplasia/hypoplasia involving bones of the lower limbs
+1 more
GUncertain significance
TBX4
(W134*)
Single nucleotide variant
(nonsense)
Absence of the sacrum
+5 more
GPathogenic