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Items: 47

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CEP128
(S1094N)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
CEP128
(Y1092C)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
CEP128
(Q1086H)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
CEP128
(K1064E)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
CEP128
(G1037E)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
CEP128
(K1017N)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
CEP128
(T1016A)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
CEP128
(R954H)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
CEP128
(E940G)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
CEP128
(I920T)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
CEP128
(N890S)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GLikely benign
CEP128
(L881P)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
CEP128
(P863S)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
CEP128
(D787N)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
CEP128
(G752D)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
CEP128
(R751H)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
CEP128
(Q625R)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
CEP128
(K609N)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
CEP128
(K606I)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
CEP128
(Q574P)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
CEP128
(I570M)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
CEP128
(R568G)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
CEP128
(Q537R)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
CEP128
(A535V)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
CEP128
(A535T)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
CEP128
(L532P)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
CEP128
(Q467K)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
CEP128
(R460W)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
CEP128
(A458T)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
CEP128
(R437H)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GLikely benign
CEP128
(E410Q)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
CEP128
(A339T +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
CEP128
(E389Q +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
CEP128
(Q371R +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
CEP128
(V294F +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
CEP128
(R302Q +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
CEP128
(D204N +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
CEP128
(Q253P +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
CEP128
(E236Q +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
CEP128
(R159Q +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
CEP128
(E214G +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
CEP128
(N208D +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
CEP128
(H64R +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GLikely benign
CEP128
(H124D +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
CEP128
(R12C)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
CEP128, TSHR
(C29W)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
CEP128, TSHR
(E34K)
Single nucleotide variant
(missense variant)
Hypothyroidism due to TSH receptor mutations
+4 more
GConflicting classifications of pathogenicity
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