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Links from Gene

Items: 1 to 100 of 300

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
KANK4
Single nucleotide variant
(synonymous variant)
KANK4-related disorder
GLikely benign
KANK4
(L169R)
Single nucleotide variant
(missense variant +1 more)
KANK4-related disorder
GUncertain significance
KANK4
(H492Y)
Single nucleotide variant
(missense variant +1 more)
KANK4-related disorder
GUncertain significance
KANK4
(H447R)
Single nucleotide variant
(missense variant +1 more)
KANK4-related disorder
GUncertain significance
KANK4
(P532A)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
KANK4
(M165I)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
KANK4
Single nucleotide variant
(splice acceptor variant)
not specified
GUncertain significance
KANK4
(E115V +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KANK4
(E329A)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
KANK4
(M901L +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KANK4
(R60K)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
KANK4
(V159I +1 more)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
KANK4
(G460D)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
KANK4
(V922I +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KANK4
(V412L)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
KANK4
Duplication
not provided
GUncertain significance
AK4, ALG6
+32 more
Duplication
PGM1-congenital disorder of glycosylation
GUncertain significance
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 disorder
GLikely benign
KANK4
Single nucleotide variant
(synonymous variant +1 more)
KANK4-related disorder
GLikely benign
KANK4
Single nucleotide variant
(synonymous variant)
KANK4-related disorder
GLikely benign
KANK4
(H225Y +1 more)
Single nucleotide variant
(missense variant)
KANK4-related disorder
GLikely benign
KANK4
Single nucleotide variant
(synonymous variant)
KANK4-related disorder
GLikely benign
KANK4
(P531S)
Single nucleotide variant
(missense variant +1 more)
KANK4-related disorder
GLikely benign
KANK4
Single nucleotide variant
(synonymous variant +1 more)
KANK4-related disorder
GLikely benign
KANK4
Single nucleotide variant
(synonymous variant)
KANK4-related disorder
GLikely benign
KANK4
Single nucleotide variant
(intron variant)
KANK4-related disorder
GLikely benign
KANK4
(L144F +1 more)
Single nucleotide variant
(missense variant)
KANK4-related disorder
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 specified
+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 specified
+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 disorder
+1 more
GUncertain significance
KANK4
(L182Q)
Single nucleotide variant
(missense variant +1 more)
KANK4-related disorder
GUncertain significance
KANK4
(R122G)
Single nucleotide variant
(missense variant +1 more)
KANK4-related disorder
GUncertain significance
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