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Items: 48

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
GLI3
(T1540K)
Single nucleotide variant
(missense variant)
Greig cephalopolysyndactyly syndrome
+4 more
GUncertain significance
GLI3
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GConflicting classifications of pathogenicity
GLI3
(F1450C)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
GLI3
Single nucleotide variant
(synonymous variant)
not specified
+4 more
GBenign
GLI3
Single nucleotide variant
(synonymous variant)
GLI3-related condition
+7 more
GBenign/Likely benign
GLI3
(M1312R)
Single nucleotide variant
(missense variant)
GLI3-related condition
+4 more
GConflicting classifications of pathogenicity
GLI3
Single nucleotide variant
(synonymous variant)
Pallister-Hall syndrome
+2 more
GConflicting classifications of pathogenicity
GLI3
(Q1277E)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+4 more
GConflicting classifications of pathogenicity
GLI3
Single nucleotide variant
(synonymous variant)
GLI3-related condition
+4 more
GConflicting classifications of pathogenicity
GLI3
Single nucleotide variant
(synonymous variant)
Pallister-Hall syndrome
+2 more
GConflicting classifications of pathogenicity
GLI3
(P1222S)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+5 more
GBenign/Likely benign
GLI3
(E1040V)
Single nucleotide variant
(missense variant)
Polydactyly
+3 more
GLikely benign
GLI3
(S1028I)
Indel
(missense variant)
not specified
+5 more
GBenign/Likely benign
GLI3
(P998L)
Single nucleotide variant
(missense variant)
Greig cephalopolysyndactyly syndrome
+6 more
GBenign
GLI3
Single nucleotide variant
(synonymous variant)
Polydactyly
+4 more
GBenign
GLI3
Single nucleotide variant
(synonymous variant)
Pallister-Hall syndrome
+2 more
GConflicting classifications of pathogenicity
GLI3
Single nucleotide variant
(synonymous variant)
Polydactyly
+4 more
GBenign
GLI3
Single nucleotide variant
(synonymous variant)
not provided
GUncertain significance
GLI3
(R847K)
Single nucleotide variant
(missense variant)
Pallister-Hall syndrome
+4 more
GConflicting classifications of pathogenicity
GLI3
(I808M)
Single nucleotide variant
(missense variant)
Greig cephalopolysyndactyly syndrome
+6 more
GBenign/Likely benign
GLI3
Single nucleotide variant
(synonymous variant)
Greig cephalopolysyndactyly syndrome
+5 more
GBenign/Likely benign
GLI3
(A770V)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
GLI3
(I749V)
Single nucleotide variant
(missense variant)
Greig cephalopolysyndactyly syndrome
+4 more
GConflicting classifications of pathogenicity
GLI3
(D734N)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+5 more
GConflicting classifications of pathogenicity
GLI3
(G727R)
Single nucleotide variant
(missense variant)
Postaxial polydactyly
+5 more
GBenign/Likely benign
GLI3
(N725T)
Single nucleotide variant
(missense variant)
Pallister-Hall syndrome
+4 more
GConflicting classifications of pathogenicity
GLI3
(D678Y)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
GLI3
(T669I)
Single nucleotide variant
(missense variant)
Greig cephalopolysyndactyly syndrome
+3 more
GLikely benign
GLI3
(P668R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
GLI3
Single nucleotide variant
(synonymous variant)
Polydactyly
+3 more
GConflicting classifications of pathogenicity
GLI3
Single nucleotide variant
(synonymous variant)
not provided
+5 more
GBenign/Likely benign
GLI3
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
GLI3
Single nucleotide variant
(synonymous variant)
Greig cephalopolysyndactyly syndrome
+3 more
GConflicting classifications of pathogenicity
GLI3
(G465R)
Single nucleotide variant
(missense variant)
not provided
+4 more
GBenign/Likely benign
GLI3
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
GLI3
Single nucleotide variant
(intron variant)
not specified
+5 more
GBenign/Likely benign
GLI3
Single nucleotide variant
(intron variant)
Greig cephalopolysyndactyly syndrome
+6 more
GBenign
GLI3
(R449P)
Single nucleotide variant
(missense variant)
Pallister-Hall syndrome
+2 more
GConflicting classifications of pathogenicity
GLI3
Single nucleotide variant
(synonymous variant)
not provided
+3 more
GConflicting classifications of pathogenicity
GLI3
(H336Q)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
GLI3
(Y334*)
Single nucleotide variant
(nonsense)
not provided
GPathogenic
GLI3
Single nucleotide variant
(synonymous variant)
GLI3-related condition
+7 more
GBenign/Likely benign
GLI3
Single nucleotide variant
(synonymous variant)
Greig cephalopolysyndactyly syndrome
+2 more
GConflicting classifications of pathogenicity
GLI3
(T183A)
Single nucleotide variant
(missense variant)
not specified
+4 more
GBenign
GLI3
Single nucleotide variant
(synonymous variant)
Greig cephalopolysyndactyly syndrome
+4 more
GBenign/Likely benign
GLI3
(R114K)
Single nucleotide variant
(missense variant)
GLI3-related condition
+7 more
GBenign/Likely benign
GLI3
(P75A)
Single nucleotide variant
(missense variant)
Pallister-Hall syndrome
+4 more
GConflicting classifications of pathogenicity
GLI3
(T10N)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
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