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Links from Gene

Items: 1 to 100 of 283

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
KANK4
(F277L)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
KANK4
(S181R)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
KANK4
(D14H)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
KANK4
(E105V)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
KANK4
(V94M)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
KANK4
(L883V +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KANK4
(D193Y +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KANK4
(F812L +1 more)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
KANK4
(G138fs +1 more)
Deletion
(frameshift variant)
not specified
GUncertain significance
KANK4
(H739L +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KANK4
(P621H)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
KANK4
(E579G)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
KANK4
(G534R)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
KANK4
(Q513E)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
KANK4
(S439R)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
KANK4
(G438D)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
KANK4
(L394R)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ALG6, ANGPTL3
+16 more
Copy number loss
not specified
GPathogenic
KANK4
Single nucleotide variant
(synonymous variant)
KANK4-related condition
GLikely benign
KANK4
Single nucleotide variant
(synonymous variant +1 more)
KANK4-related condition
GLikely benign
KANK4
Single nucleotide variant
(synonymous variant)
KANK4-related condition
GLikely benign
KANK4
(H225Y +1 more)
Single nucleotide variant
(missense variant)
KANK4-related condition
GLikely benign
KANK4
Single nucleotide variant
(synonymous variant)
KANK4-related condition
GLikely benign
KANK4
(P531S)
Single nucleotide variant
(missense variant +1 more)
KANK4-related condition
GLikely benign
KANK4
Single nucleotide variant
(synonymous variant +1 more)
KANK4-related condition
GLikely benign
KANK4
Single nucleotide variant
(synonymous variant)
KANK4-related condition
GLikely benign
KANK4
Single nucleotide variant
(intron variant)
KANK4-related condition
GLikely benign
KANK4
(L144F +1 more)
Single nucleotide variant
(missense variant)
KANK4-related condition
GLikely benign
KANK4
(A286V +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
KANK4
(M248V +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
KANK4
(F254S)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
KANK4
(Y117C +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
KANK4
(N269S)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
KANK4
(E804K +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
KANK4
(S163C)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
KANK4
(H711R +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
KANK4
(R156Q)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
KANK4
(H492R)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
KANK4
Single nucleotide variant
(intron variant)
not provided
GLikely benign
KANK4
(S493G)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
KANK4
(G682D +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
KANK4
(A987T +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
KANK4
(M283T +1 more)
Single nucleotide variant
(missense variant)
not specified
+1 more
GUncertain significance
KANK4
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
KANK4
(P974S +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
KANK4
(G682S +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
KANK4
(T140A +1 more)
Inversion
(missense variant)
not provided
GLikely benign
KANK4
(A593V)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
KANK4
(E470G)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
KANK4
(E45G +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
KANK4
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
KANK4
(N306fs)
Deletion
(frameshift variant +1 more)
not provided
GUncertain significance
KANK4
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
KANK4
(K698del +1 more)
Microsatellite
(inframe_deletion)
not provided
GUncertain significance
KANK4
(V316A)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
KANK4
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
KANK4
(I501N)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
KANK4
Single nucleotide variant
(intron variant)
not provided
GLikely benign
KANK4
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
KANK4
(G408A)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
KANK4
Single nucleotide variant
(intron variant)
not provided
GLikely benign
KANK4
(A953fs +1 more)
Deletion
(frameshift variant)
not provided
GUncertain significance
KANK4
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
KANK4
(P70L)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
KANK4
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
KANK4
(R128W +1 more)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
KANK4
(D459V)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
KANK4
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
KANK4
(L261I)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
KANK4
(G39E +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
KANK4
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
KANK4
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
KANK4
(E226Q)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
KANK4
(E149K)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
KANK4
(A242T +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
KANK4
(Q508*)
Single nucleotide variant
(nonsense +1 more)
not provided
GUncertain significance
KANK4
(I57N)
Single nucleotide variant
(missense variant +1 more)
not provided
GBenign
KANK4
(K705R +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
KANK4
(F213S)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
KANK4
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
KANK4
(R471C)
Single nucleotide variant
(missense variant +1 more)
KANK4-related condition
+1 more
GUncertain significance
KANK4
(L182Q)
Single nucleotide variant
(missense variant +1 more)
KANK4-related condition
GUncertain significance
KANK4
(R122G)
Single nucleotide variant
(missense variant +1 more)
KANK4-related condition
GUncertain significance
KANK4
(H420R)
Single nucleotide variant
(missense variant +1 more)
KANK4-related condition
GUncertain significance
KANK4
(S198G)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
LOC111501769, LOC121725026
+43 more
Copy number loss
Brain malformations with or without urinary tract defects
GPathogenic
KANK4
(T506I)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
KANK4
(R59S)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
KANK4
(V169M +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KANK4
(S606F)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
KANK4
(S606T)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
KANK4
(P290L)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
KANK4
(P313L)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
KANK4
(R786H +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KANK4
(A914G +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KANK4
(R81H)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
KANK4
(T222A)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
KANK4
(E304K)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
KANK4
(A232T)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
KANK4
(D319A)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
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