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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
GLI1
(R113* +1 more)
Single nucleotide variant
(5 prime UTR variant +1 more)
Polydactyly, postaxial, type A8
GPathogenic
GLI1
(L506Q +2 more)
Single nucleotide variant
(missense variant)
Polydactyly of a biphalangeal thumb
GUncertain significance
GLI1
(Q644* +2 more)
Single nucleotide variant
(nonsense)
Polydactyly, postaxial, type A8
GPathogenic
GLI1
(W780* +2 more)
Single nucleotide variant
(nonsense)
Polydactyly, postaxial, type A8
GPathogenic
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