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Items: 62

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC129993054, PLK4
(I5V)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
LOC129993054, PLK4
(G6E)
Single nucleotide variant
(missense variant)
not specified
+2 more
GConflicting classifications of pathogenicity
PLK4
(F12Y)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
PLK4
(M42V +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+1 more
GUncertain significance
PLK4
(K5N +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+1 more
GUncertain significance
PLK4
(K21E +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+1 more
GUncertain significance
PLK4
(N57K +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
PLK4
(R82L +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
PLK4
(H118Q +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
PLK4
(Q119K +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
PLK4
(D171Y +2 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
PLK4
(D180N +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
PLK4
(I204V +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
PLK4
(R206H +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
PLK4
(G245V +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
PLK4
(I242V +2 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
PLK4
(S299N +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
PLK4
(G274C +2 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
PLK4
(D292A +2 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
PLK4
(R339Q +2 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
PLK4
(G373D +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GLikely benign
PLK4
(E386D +2 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
PLK4
(N428K +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
PLK4
(S398G +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
PLK4
(N418D +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GLikely benign
PLK4
(P422S +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
PLK4
(N454S +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
PLK4
(Y463H +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GLikely benign
PLK4
(Y454C +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
PLK4
(P500R +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
PLK4
(P508S +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
PLK4
(T473A +2 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
PLK4
(W487C +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
PLK4
(T479I +2 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
PLK4
(M511V +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GConflicting classifications of pathogenicity
PLK4
(P512L +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
PLK4
(Y541S +2 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
PLK4
Single nucleotide variant
(intron variant)
Inborn genetic diseases
+1 more
GUncertain significance
PLK4
(L582R +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
PLK4
(V624E +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
PLK4
(L618V +2 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
PLK4
(R652Q +2 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
PLK4
(T672S +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
PLK4
(I672T +2 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
PLK4
(M735I +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
PLK4
(R777H +2 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
PLK4
(I760V +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
PLK4
Single nucleotide variant
(intron variant)
not specified
+2 more
GUncertain significance
PLK4
(P772S +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
PLK4
(P781R +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
PLK4
(V790M +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
PLK4
(N784Y +2 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
PLK4
(Y785H +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
PLK4
(R799G +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
PLK4
(T823K +2 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
PLK4
(T824A +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GConflicting classifications of pathogenicity
PLK4
(Q845P +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
PLK4
(L846F +2 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
PLK4
(V878M +2 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
PLK4
(E910Q +2 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
PLK4
(L952V +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
PLK4
(N923K +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
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