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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SMAD6
(L191P)
Single nucleotide variant
(missense variant +1 more)
Plagiocephaly
+4 more
GConflicting classifications of pathogenicity
SMAD6
(K429*)
Single nucleotide variant
(nonsense +1 more)
Radioulnar synostosis
+3 more
GPathogenic