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Items: 43

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
KNL1
(R31K)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
KNL1
(R159C +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
KNL1
(T338K +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
KNL1
(T381A +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
KNL1
(H396D +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
KNL1
(D431G +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GUncertain significance
KNL1
(N465H +1 more)
Single nucleotide variant
(missense variant)
Microcephaly 4, primary, autosomal recessive
+2 more
GUncertain significance
KNL1
(Q497H +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
KNL1
(S552L +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
KNL1
(K563N +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
KNL1
(A590S +1 more)
Single nucleotide variant
(missense variant)
not specified
+3 more
GConflicting classifications of pathogenicity
KNL1
(S605G +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
KNL1
(K632R +1 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
KNL1
(Q754R +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
KNL1
(T887I +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
KNL1
(D868G +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
KNL1
(D871G +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
KNL1
(M898I +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
KNL1
(M965L +1 more)
Single nucleotide variant
(missense variant)
Microcephaly 4, primary, autosomal recessive
+2 more
GUncertain significance
KNL1
(T942S +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
KNL1
(F1001L +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
KNL1
(N1050del +1 more)
Microsatellite
(inframe_deletion)
Inborn genetic diseases
GUncertain significance
KNL1
(T1041S +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
KNL1
(K1046E +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
KNL1
(C1147R +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
KNL1
(N1144H +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
KNL1
(S1162G +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
KNL1
(T1193I +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
KNL1
(N1264del +1 more)
Deletion
(inframe_deletion)
Inborn genetic diseases
GUncertain significance
KNL1
(Q1428R +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
KNL1
(T1429S +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
KNL1
(T1473I +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
KNL1
(P1477L +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
KNL1
(V1465L +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
KNL1
(N1565fs +1 more)
Deletion
(frameshift variant)
Inborn genetic diseases
GPathogenic
KNL1
(P1581S +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
KNL1
(I1652M +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
KNL1
(S1716T +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
KNL1
(Y1742N +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
KNL1
(E1745A +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
KNL1
(L2062V +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
KNL1
(L2106F +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
KNL1
(V2138I +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GConflicting classifications of pathogenicity
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