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Items: 10

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PDE4D
(I678T +11 more)
Single nucleotide variant
(missense variant)
not provided
GPathogenic
PDE4D
(G673D +11 more)
Single nucleotide variant
(missense variant)
Acrodysostosis 2 with or without hormone resistance
GPathogenic
PDE4D
(E590A +11 more)
Single nucleotide variant
(missense variant)
Acrodysostosis 2 with or without hormone resistance
GPathogenic
PDE4D
(T587P +11 more)
Single nucleotide variant
(missense variant)
Acrodysostosis 2 with or without hormone resistance
GPathogenic
PDE4D
(A243V +10 more)
Single nucleotide variant
(missense variant)
Acrodysostosis 2 with or without hormone resistance
GPathogenic
PDE4D
(Q228E +7 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GPathogenic
PDE4D
(F226C +7 more)
Single nucleotide variant
(missense variant +1 more)
Acrodysostosis 2 with or without hormone resistance
GPathogenic
PDE4D
(F226S +7 more)
Single nucleotide variant
(missense variant +1 more)
Acrodysostosis 2 with or without hormone resistance
GPathogenic
PDE4D
(P225T +7 more)
Single nucleotide variant
(missense variant +1 more)
Acrodysostosis 2 with or without hormone resistance
GPathogenic
PDE4D
(S190A +7 more)
Single nucleotide variant
(missense variant +1 more)
Acrodysostosis 2 with or without hormone resistance
GPathogenic
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