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Items: 1 to 100 of 108

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
KANK1
(Q53K)
Single nucleotide variant
(5 prime UTR variant +2 more)
Inborn genetic diseases
+1 more
GUncertain significance
KANK1
(R66G)
Single nucleotide variant
(missense variant +2 more)
not provided
+1 more
GUncertain significance
KANK1
(P76S)
Single nucleotide variant
(missense variant +2 more)
Inborn genetic diseases
+2 more
GConflicting classifications of pathogenicity
KANK1
(S97T)
Single nucleotide variant
(missense variant +2 more)
Inborn genetic diseases
GUncertain significance
KANK1
(R138Q)
Single nucleotide variant
(missense variant +2 more)
Inborn genetic diseases
GLikely benign
KANK1
(P143S)
Single nucleotide variant
(missense variant +2 more)
Inborn genetic diseases
GUncertain significance
KANK1
(P145S)
Single nucleotide variant
(missense variant +2 more)
Inborn genetic diseases
+2 more
GUncertain significance
KANK1
(K156E)
Single nucleotide variant
(missense variant +2 more)
not provided
+2 more
GUncertain significance
KANK1
(P176S +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+1 more
GUncertain significance
KANK1
(S194G +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
KANK1
(K51N +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
KANK1
(M235I +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
KANK1
(I81M +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
KANK1
(E107K +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
KANK1
(K114T +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
KANK1
(K117R +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
KANK1
(N170K +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+1 more
GUncertain significance
KANK1
(Q334H +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
KANK1
(L177F +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
KANK1
(V199L +1 more)
Single nucleotide variant
(missense variant +1 more)
Cerebral palsy, spastic quadriplegic, 2
+2 more
GUncertain significance
KANK1
(S389A +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+1 more
GUncertain significance
KANK1
(E239G +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
KANK1
(E248K +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GUncertain significance
KANK1
(M251V +1 more)
Single nucleotide variant
(missense variant +1 more)
Cerebral palsy, spastic quadriplegic, 2
+1 more
GUncertain significance
KANK1
(D253E +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
KANK1
(G270E +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+1 more
GUncertain significance
KANK1
(K295E +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GConflicting classifications of pathogenicity
KANK1
(R313H +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GUncertain significance
KANK1
(M327L +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
KANK1
(S339W +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
KANK1
(V343I +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+1 more
GUncertain significance
KANK1
(T505R +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+1 more
GUncertain significance
KANK1
(V361L +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
KANK1
(Q525K +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
KANK1
(G539E +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
KANK1
(V560I +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
KANK1
(M419R +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
KANK1
(D421N +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
KANK1
(S434C +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
KANK1
(C600S +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
KANK1
(D454N +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
KANK1
(K465R +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
KANK1
(E466Q +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+1 more
GUncertain significance
KANK1
(G629R +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
KANK1
(G473E +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
KANK1
(N651T +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
KANK1
(A496D +1 more)
Single nucleotide variant
(missense variant +1 more)
KANK1-related condition
+2 more
GConflicting classifications of pathogenicity
KANK1
(P508L +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GUncertain significance
KANK1
(E687K +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
KANK1
(T530M +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GUncertain significance
KANK1
(I534V +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+2 more
GConflicting classifications of pathogenicity
KANK1
(E693K +1 more)
Single nucleotide variant
(missense variant +1 more)
Cerebral palsy, spastic quadriplegic, 2
+2 more
GUncertain significance
KANK1
(D704N +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
KANK1
(L741F +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
KANK1
(A753G +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
KANK1
(G602D +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+1 more
GUncertain significance
KANK1
(C781S +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GUncertain significance
KANK1
(Q654P +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
KANK1
(H667R +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+2 more
GUncertain significance
KANK1
(S703F +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
KANK1
(S879P +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
KANK1
(G738R +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+1 more
GUncertain significance
KANK1
(S756L +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+1 more
GUncertain significance
KANK1
(P786L +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
KANK1
(T949A +1 more)
Single nucleotide variant
(missense variant +2 more)
Inborn genetic diseases
+1 more
GUncertain significance
KANK1
(Y807C +1 more)
Single nucleotide variant
(missense variant +2 more)
Inborn genetic diseases
+1 more
GUncertain significance
KANK1
(A790V +3 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GLikely benign
KANK1
(E813G +3 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
KANK1
(N826I +3 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+1 more
GUncertain significance
KANK1
(S860Y +3 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
KANK1
(E1002K +3 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+1 more
GUncertain significance
KANK1
(E858Q +3 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
KANK1
(E859K +3 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
KANK1
(R1026Q +3 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
KANK1
(M888T +3 more)
Single nucleotide variant
(missense variant +1 more)
Cerebral palsy, spastic quadriplegic, 2
+2 more
GUncertain significance
KANK1
(E1053D +3 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+1 more
GUncertain significance
KANK1
(E915Q +3 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+1 more
GConflicting classifications of pathogenicity
KANK1
(P916S +3 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
KANK1
(E923D +3 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
KANK1
(L857F +6 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
KANK1
(I1100V +6 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
KANK1
(S870T +6 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
KANK1, LOC126860554
(R1044H +6 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+1 more
GConflicting classifications of pathogenicity
KANK1, LOC126860554
(A1141G +6 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
KANK1, LOC126860554
(I1066F +6 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
KANK1, LOC126860554
(D1069G +6 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
KANK1, LOC126860554
(V894F +6 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
KANK1, LOC126860554
(N1076S +6 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+1 more
GUncertain significance
KANK1, LOC126860554
(A1000T +6 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
KANK1, LOC126860554
(A1147T +6 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
KANK1, LOC126860554
(E1158K +6 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+1 more
GUncertain significance
KANK1
(N1017H +6 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
KANK1
(A1127D +6 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
KANK1
(E1209K +6 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+1 more
GUncertain significance
KANK1
(M1196R +6 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
KANK1
(L997R +6 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
KANK1
(A1079D +6 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+2 more
GUncertain significance
KANK1
(G1273S +6 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+1 more
GUncertain significance
KANK1
(G1056S +6 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GUncertain significance
KANK1
(G1118D +6 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
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