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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
GLI3
(D1095G)
Single nucleotide variant
(missense variant)
not specified
+5 more
GUncertain significance
GLI3
(E1040K)
Single nucleotide variant
(missense variant)
Polydactyly
+6 more
GUncertain significance
GLI3
(E81K)
Single nucleotide variant
(missense variant)
Greig cephalopolysyndactyly syndrome
+7 more
GConflicting classifications of pathogenicity
SMO
Single nucleotide variant
(synonymous variant)
not provided
+4 more
GBenign/Likely benign
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