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Links from MedGen

Items: 1 to 100 of 106

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
KANK1
(T797I +3 more)
Single nucleotide variant
(missense variant +1 more)
Cerebral palsy, spastic quadriplegic, 2
GUncertain significance
KANK1
(K345E +1 more)
Single nucleotide variant
(missense variant +1 more)
Cerebral palsy, spastic quadriplegic, 2
GUncertain significance
KANK1
Single nucleotide variant
(splice donor variant)
Cerebral palsy, spastic quadriplegic, 2
GUncertain significance
KANK1
(S91T)
Single nucleotide variant
(missense variant +2 more)
Cerebral palsy, spastic quadriplegic, 2
GUncertain significance
KANK1
(M251V +1 more)
Single nucleotide variant
(missense variant +1 more)
Cerebral palsy, spastic quadriplegic, 2
+1 more
GUncertain significance
KANK1
(K567T +1 more)
Single nucleotide variant
(missense variant +1 more)
Cerebral palsy, spastic quadriplegic, 2
GUncertain significance
KANK1
(I534V +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
+2 more
GConflicting classifications of pathogenicity
KANK1
(G1102R +6 more)
Single nucleotide variant
(missense variant +1 more)
Cerebral palsy, spastic quadriplegic, 2
+1 more
GUncertain significance
KANK1
Single nucleotide variant
(synonymous variant +1 more)
not provided
+1 more
GLikely benign
KANK1
Single nucleotide variant
(intron variant)
KANK1-related disorder
+2 more
GLikely benign
KANK1
(R241Q +1 more)
Single nucleotide variant
(missense variant +1 more)
KANK1-related disorder
+2 more
GLikely benign
KANK1
Single nucleotide variant
(synonymous variant +1 more)
not provided
+1 more
GLikely benign
KANK1
Single nucleotide variant
(synonymous variant +2 more)
not provided
+1 more
GBenign/Likely benign
KANK1
Single nucleotide variant
(intron variant)
Cerebral palsy, spastic quadriplegic, 2
+2 more
GBenign/Likely benign
KANK1
Insertion
(intron variant)
not provided
+1 more
GLikely benign
KANK1
Single nucleotide variant
(synonymous variant +1 more)
not provided
+1 more
GLikely benign
KANK1
Single nucleotide variant
(synonymous variant +2 more)
Cerebral palsy, spastic quadriplegic, 2
+1 more
GLikely benign
KANK1
Single nucleotide variant
(synonymous variant +1 more)
not provided
+2 more
GLikely benign
KANK1
Single nucleotide variant
(synonymous variant +1 more)
not provided
+1 more
GLikely benign
KANK1
Single nucleotide variant
(synonymous variant +1 more)
Cerebral palsy, spastic quadriplegic, 2
+1 more
GBenign/Likely benign
KANK1
(V128E +1 more)
Single nucleotide variant
(missense variant +1 more)
Cerebral palsy, spastic quadriplegic, 2
+2 more
GLikely benign
KANK1
Single nucleotide variant
(intron variant)
not provided
+2 more
GLikely benign
KANK1
(R210Q +1 more)
Single nucleotide variant
(missense variant +1 more)
KANK1-related disorder
+2 more
GLikely benign
KANK1
(A814T +3 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GConflicting classifications of pathogenicity
KANK1
(S198del +1 more)
Microsatellite
(inframe_deletion +1 more)
not provided
+1 more
GUncertain significance
KANK1
(Q112P)
Single nucleotide variant
(missense variant +2 more)
Cerebral palsy, spastic quadriplegic, 2
+1 more
GUncertain significance
KANK1
(E248K +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
+2 more
GUncertain significance
KANK1
(P508L +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
+2 more
GUncertain significance
KANK1
(N918S +6 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
KANK1
(H667R +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GUncertain significance
KANK1
(P145S)
Single nucleotide variant
(missense variant +2 more)
not specified
+2 more
GUncertain significance
KANK1
(K156E)
Single nucleotide variant
(missense variant +2 more)
not specified
+2 more
GUncertain significance
KANK1
(I801V +3 more)
Single nucleotide variant
(missense variant +1 more)
Cerebral palsy, spastic quadriplegic, 2
+1 more
GUncertain significance
KANK1
(V637M +1 more)
Single nucleotide variant
(missense variant +1 more)
Cerebral palsy, spastic quadriplegic, 2
+1 more
GUncertain significance
KANK1
(E1043G +6 more)
Single nucleotide variant
(missense variant +1 more)
Cerebral palsy, spastic quadriplegic, 2
+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
(P1094L +6 more)
Single nucleotide variant
(missense variant +1 more)
not specified
+2 more
GUncertain significance
KANK1, LOC126860554
Single nucleotide variant
(synonymous variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
KANK1
(K265N +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
KANK1
(K1054del +6 more)
Deletion
(inframe_deletion +1 more)
Cerebral palsy, spastic quadriplegic, 2
+1 more
GUncertain significance
KANK1
(G1087R +6 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
KANK1
(R490Q +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
KANK1
(R313H +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GUncertain significance
KANK1
(V199L +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GUncertain significance
KANK1
(A70G +1 more)
Single nucleotide variant
(missense variant +1 more)
Cerebral palsy, spastic quadriplegic, 2
+1 more
GUncertain significance
KANK1, LOC126860554
(Q1110E +6 more)
Single nucleotide variant
(missense variant +1 more)
Cerebral palsy, spastic quadriplegic, 2
+1 more
GUncertain significance
KANK1
(P1034H +6 more)
Single nucleotide variant
(missense variant +1 more)
Cerebral palsy, spastic quadriplegic, 2
+1 more
GUncertain significance
KANK1
(R262S +1 more)
Single nucleotide variant
(missense variant +1 more)
Cerebral palsy, spastic quadriplegic, 2
+1 more
GUncertain significance
KANK1
(G1056S +6 more)
Single nucleotide variant
(missense variant +1 more)
not specified
+2 more
GUncertain significance
KANK1
Single nucleotide variant
(splice donor variant +1 more)
not provided
+1 more
GUncertain significance
KANK1
(G16R)
Single nucleotide variant
(missense variant +2 more)
not provided
+1 more
GUncertain significance
KANK1
(G631V +1 more)
Single nucleotide variant
(missense variant +1 more)
Cerebral palsy, spastic quadriplegic, 2
+1 more
GUncertain significance
KANK1
(A1185V +6 more)
Single nucleotide variant
(missense variant +1 more)
Cerebral palsy, spastic quadriplegic, 2
+1 more
GUncertain significance
KANK1, LOC126860554
(E1158Q +6 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
KANK1, LOC126860554
Single nucleotide variant
(synonymous variant +1 more)
KANK1-related disorder
+2 more
GConflicting classifications of pathogenicity
KANK1
(V754G +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
KANK1
(P76S)
Single nucleotide variant
(missense variant +2 more)
not specified
+2 more
GConflicting classifications of pathogenicity
KANK1
(R557W +1 more)
Single nucleotide variant
(missense variant +1 more)
Cerebral palsy, spastic quadriplegic, 2
+1 more
GUncertain significance
KANK1
(A1079D +6 more)
Single nucleotide variant
(missense variant +1 more)
not specified
+2 more
GUncertain significance
KANK1
(T530M +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
+2 more
GUncertain significance
KANK1
(V639M +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
KANK1
(E450del +1 more)
Deletion
(inframe_deletion +1 more)
not provided
+1 more
GUncertain significance
KANK1
(I470V +1 more)
Single nucleotide variant
(missense variant +1 more)
Cerebral palsy, spastic quadriplegic, 2
+1 more
GUncertain significance
KANK1
(A718G +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
KANK1
(C781S +1 more)
Single nucleotide variant
(missense variant +1 more)
Cerebral palsy, spastic quadriplegic, 2
+2 more
GUncertain significance
KANK1
(D50Y)
Single nucleotide variant
(missense variant +2 more)
not provided
+1 more
GUncertain significance
KANK1
(V384M +1 more)
Single nucleotide variant
(missense variant +1 more)
Cerebral palsy, spastic quadriplegic, 2
+1 more
GUncertain significance
KANK1
(T378K +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
KANK1
(C1054fs +3 more)
Duplication
(frameshift variant +1 more)
not specified
+1 more
GUncertain significance
KANK1
Single nucleotide variant
(synonymous variant +1 more)
not provided
+2 more
GUncertain significance
KANK1
Single nucleotide variant
(intron variant)
Cerebral palsy, spastic quadriplegic, 2
+1 more
GBenign/Likely benign
KANK1
(I85M)
Single nucleotide variant
(missense variant +2 more)
Cerebral palsy, spastic quadriplegic, 2
+2 more
GUncertain significance
KANK1
(S476C +1 more)
Single nucleotide variant
(missense variant +1 more)
Cerebral palsy, spastic quadriplegic, 2
GUncertain significance
KANK1
(A1079fs +6 more)
Deletion
(frameshift variant +1 more)
Cerebral palsy, spastic quadriplegic, 2
+1 more
GUncertain significance
KANK1
(L737M +1 more)
Single nucleotide variant
(missense variant +1 more)
Cerebral palsy, spastic quadriplegic, 2
+1 more
GUncertain significance
KANK1
(S674G +1 more)
Single nucleotide variant
(missense variant +1 more)
Cerebral palsy, spastic quadriplegic, 2
GUncertain significance
KANK1
(Q362H +1 more)
Single nucleotide variant
(missense variant +1 more)
Cerebral palsy, spastic quadriplegic, 2
+1 more
GUncertain significance
KANK1
Deletion
(intron variant)
Cerebral palsy, spastic quadriplegic, 2
GBenign
KANK1
(E693K +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GUncertain significance
KANK1
Single nucleotide variant
(synonymous variant +1 more)
KANK1-related disorder
+2 more
GLikely benign
KANK1
Single nucleotide variant
(synonymous variant +1 more)
KANK1-related disorder
+2 more
GLikely benign
KANK1
Single nucleotide variant
(synonymous variant +1 more)
not provided
+1 more
GLikely benign
KANK1
Single nucleotide variant
(synonymous variant +1 more)
not provided
+1 more
GBenign/Likely benign
KANK1
Single nucleotide variant
(synonymous variant +1 more)
not provided
+1 more
GLikely benign
KANK1
Single nucleotide variant
(synonymous variant +1 more)
not provided
+2 more
GLikely benign
KANK1
Single nucleotide variant
(synonymous variant +1 more)
not provided
+1 more
GLikely benign
KANK1
Single nucleotide variant
(synonymous variant +1 more)
not provided
+1 more
GLikely benign
KANK1
Single nucleotide variant
(synonymous variant +1 more)
not provided
+1 more
GBenign/Likely benign
KANK1
Single nucleotide variant
(synonymous variant +1 more)
Cerebral palsy, spastic quadriplegic, 2
+1 more
GLikely benign
KANK1
Single nucleotide variant
(synonymous variant +1 more)
not provided
+2 more
GLikely benign
KANK1
Single nucleotide variant
(synonymous variant +1 more)
Cerebral palsy, spastic quadriplegic, 2
+1 more
GLikely benign
KANK1
Single nucleotide variant
(synonymous variant +1 more)
Cerebral palsy, spastic quadriplegic, 2
+2 more
GLikely benign
KANK1
Single nucleotide variant
(synonymous variant +1 more)
Cerebral palsy, spastic quadriplegic, 2
+1 more
GBenign/Likely benign
KANK1
Single nucleotide variant
(synonymous variant +1 more)
not provided
+1 more
GBenign
KANK1
(V376M +1 more)
Single nucleotide variant
(missense variant +1 more)
Cerebral palsy, spastic quadriplegic, 2
+2 more
GLikely benign
KANK1
Single nucleotide variant
(synonymous variant +2 more)
not provided
+1 more
GLikely benign
KANK1
Single nucleotide variant
(synonymous variant +1 more)
Cerebral palsy, spastic quadriplegic, 2
+1 more
GBenign/Likely benign
KANK1
Single nucleotide variant
(synonymous variant +1 more)
Cerebral palsy, spastic quadriplegic, 2
+1 more
GBenign/Likely benign
KANK1
(D44Y)
Single nucleotide variant
(missense variant +2 more)
Cerebral palsy, spastic quadriplegic, 2
GUncertain significance
KANK1
(Y324* +1 more)
Single nucleotide variant
(nonsense +1 more)
not provided
+1 more
GUncertain significance
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