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Items: 39

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
IFT81
(D3G)
Single nucleotide variant
(missense variant +2 more)
Inborn genetic diseases
+1 more
GUncertain significance
IFT81
(M9V)
Single nucleotide variant
(missense variant +2 more)
not provided
+1 more
GConflicting classifications of pathogenicity
IFT81
(N22D)
Single nucleotide variant
(missense variant +2 more)
Inborn genetic diseases
+1 more
GUncertain significance
IFT81
(K48M)
Single nucleotide variant
(missense variant +2 more)
Inborn genetic diseases
GUncertain significance
IFT81
(E59K)
Single nucleotide variant
(missense variant +2 more)
Inborn genetic diseases
GUncertain significance
IFT81
(R64Q)
Single nucleotide variant
(missense variant +2 more)
Inborn genetic diseases
+1 more
GUncertain significance
IFT81
(I71M)
Single nucleotide variant
(missense variant +2 more)
Inborn genetic diseases
GUncertain significance
IFT81
(G89V)
Single nucleotide variant
(missense variant +2 more)
Inborn genetic diseases
GUncertain significance
IFT81
(K142R)
Single nucleotide variant
(missense variant +2 more)
Inborn genetic diseases
+1 more
GUncertain significance
IFT81
(H202Q)
Single nucleotide variant
(missense variant +2 more)
not provided
+1 more
GUncertain significance
IFT81
(W204R)
Single nucleotide variant
(missense variant +2 more)
Inborn genetic diseases
+1 more
GConflicting classifications of pathogenicity
IFT81
(R213Q)
Single nucleotide variant
(missense variant +2 more)
Inborn genetic diseases
+1 more
GUncertain significance
IFT81
(Q224R)
Single nucleotide variant
(missense variant +2 more)
Inborn genetic diseases
GUncertain significance
IFT81
(S249I)
Single nucleotide variant
(missense variant +2 more)
Inborn genetic diseases
+1 more
GUncertain significance
IFT81
(R251G)
Single nucleotide variant
(missense variant +2 more)
not provided
+1 more
GUncertain significance
IFT81
(L274F)
Single nucleotide variant
(missense variant +2 more)
not provided
+1 more
GUncertain significance
IFT81
(L285F)
Single nucleotide variant
(missense variant +2 more)
Inborn genetic diseases
GUncertain significance
IFT81
(M331T +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
IFT81
(R345T +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
IFT81
(K436T +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
IFT81
(H439L +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
IFT81
(G454A +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
IFT81
(Y150H +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
IFT81
(Y150C +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
IFT81
(E153Q +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
IFT81
(E153G +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
IFT81
(S473N +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
IFT81
(R205H +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+1 more
GUncertain significance
IFT81
(C215Y +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
IFT81
(S231G +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
IFT81
(Q249H +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
IFT81
(C259R +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
IFT81
(K617T +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+1 more
GUncertain significance
IFT81
(R316Q +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
IFT81
(C342R +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+1 more
GConflicting classifications of pathogenicity
IFT81
(S658N +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+1 more
GUncertain significance
IFT81
(T350N +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
IFT81
(I352T +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+1 more
GUncertain significance
IFT81
(I666V +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
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