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Links from Gene

Items: 1 to 100 of 1134

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
DOCK8, DOCK8-AS1
+1 more
Copy number loss
not provided
GUncertain significance
KANK1
(M100T +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
KANK1
(I239L +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
KANK1
(A1028V +6 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
KANK1
(A1027T +6 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
KANK1, LOC126860554
(K1049N +6 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
KANK1
(E883G +3 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
KANK1
(D783V +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
KANK1
(T89N)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
KANK1
(S717C +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
KANK1
(R723H +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
KANK1
(R715Q +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
KANK1
(I692K +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
KANK1
(D676Y +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
KANK1
(D514N +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
KANK1
(G629A +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
KANK1
(R574T +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
KANK1
(S231P +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
KANK1
(V199I +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
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
(L129P)
Single nucleotide variant
(missense variant +2 more)
not provided
GUncertain significance
AK3, BRD10
+37 more
Copy number loss
not specified
GPathogenic
AK3, BRD10
+37 more
Copy number loss
not specified
GPathogenic
AK3, BRD10
+47 more
Copy number loss
not specified
GPathogenic
ABCA1, ABCA2
+769 more
Copy number gain
not specified
GPathogenic
ADAMTSL1, AK3
+57 more
Copy number loss
not specified
GPathogenic
KANK1
(K750N +1 more)
Single nucleotide variant
(missense variant +1 more)
KANK1-related disorder
GUncertain significance
KANK1
Single nucleotide variant
(synonymous variant +1 more)
KANK1-related disorder
GLikely benign
KANK1
Single nucleotide variant
(3 prime UTR variant +1 more)
KANK1-related disorder
GLikely benign
KANK1, LOC126860554
Single nucleotide variant
(synonymous variant +1 more)
KANK1-related disorder
GLikely benign
KANK1
Single nucleotide variant
(synonymous variant +2 more)
KANK1-related disorder
GLikely benign
KANK1
(G1027R +3 more)
Single nucleotide variant
(missense variant +1 more)
KANK1-related disorder
GUncertain significance
KANK1
(V481I +1 more)
Single nucleotide variant
(missense variant +1 more)
KANK1-related disorder
GLikely benign
KANK1
Single nucleotide variant
(synonymous variant +1 more)
KANK1-related disorder
GLikely benign
KANK1
Single nucleotide variant
(synonymous variant +1 more)
KANK1-related disorder
GLikely benign
KANK1
(T1060M +6 more)
Single nucleotide variant
(missense variant +1 more)
KANK1-related disorder
GUncertain significance
KANK1
(Q363K +1 more)
Single nucleotide variant
(missense variant +1 more)
KANK1-related disorder
GUncertain significance
KANK1
(M368L +1 more)
Single nucleotide variant
(missense variant +1 more)
KANK1-related disorder
GUncertain significance
KANK1
Single nucleotide variant
(synonymous variant +1 more)
KANK1-related disorder
GLikely benign
KANK1
(A646T +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
KANK1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
KANK1, LOC126860554
(F1063S +6 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
KANK1
(T5R)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
KANK1
(E351K +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
KANK1
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
KANK1
(S498R +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
KANK1
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
KANK1
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
KANK1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
KANK1
(K47R)
Single nucleotide variant
(missense variant +2 more)
not provided
GUncertain significance
KANK1
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
KANK1
(V575M +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
KANK1
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
KANK1
(R576G +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
KANK1
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
KANK1
(P122T)
Single nucleotide variant
(missense variant +2 more)
not provided
GUncertain significance
KANK1
(R241W +1 more)
Single nucleotide variant
(missense variant +1 more)
KANK1-related disorder
+1 more
GUncertain significance
KANK1
(E1053K +6 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
KANK1
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
KANK1, LOC126860554
(F1017L +6 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
KANK1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
KANK1
(R1082fs +3 more)
Microsatellite
(frameshift variant +1 more)
not provided
GUncertain significance
KANK1
(S249P +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
KANK1
(V1041M +6 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
KANK1
(M1056L +6 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
KANK1
(H1033Q +6 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
KANK1
(Q64R)
Single nucleotide variant
(missense variant +2 more)
not provided
GUncertain significance
KANK1
(T35A)
Single nucleotide variant
(missense variant +2 more)
not provided
GUncertain significance
KANK1
Single nucleotide variant
(splice donor variant)
not provided
GUncertain significance
KANK1
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
KANK1
(T973S +3 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
KANK1
(K503R +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
KANK1
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
KANK1
(S1017C +3 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
KANK1
(A1030T +6 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
KANK1
(R169T +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
KANK1
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
KANK1
(P1156S +6 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
KANK1
(V362M +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GLikely benign
KANK1
(A337T +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
KANK1
(N896T +3 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
KANK1, LOC126860554
(V1132I +6 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
KANK1
(G189D +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
KANK1
(A329T +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
KANK1
(T95S +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
KANK1
Single nucleotide variant
(synonymous variant +1 more)
not provided
GBenign
KANK1
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
KANK1
(R1228Q +6 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
KANK1
(A229T +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
KANK1
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
KANK1, LOC126860554
(P975L +6 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
KANK1
(N743I +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
KANK1
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
KANK1
(L994F +3 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
KANK1
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
KANK1
(F354S +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
KANK1
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
KANK1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
KANK1
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
Display optionsSort by RelevanceDownload
Format
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