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Items: 54

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC126806416, LOC126806417
+591 more
Copy number loss
See cases
GPathogenic
ANKAR, ANKRD44
+430 more
Copy number loss
See cases
GPathogenic
CCDC141, CERKL
+104 more
Copy number loss
See cases
GPathogenic
NCKAP1
(A1128V +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
NCKAP1
Duplication
(inframe_insertion)
not provided
GUncertain significance
NCKAP1
(Y1116N +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
NCKAP1
(L1066Q +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
NCKAP1
(L1005F +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
NCKAP1
(A965V +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
NCKAP1
Single nucleotide variant
(synonymous variant)
not provided
GBenign
NCKAP1
(R925K +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
NCKAP1
(V900I +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
NCKAP1
(A813G +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
NCKAP1
(N802H +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
NCKAP1
(R798* +1 more)
Single nucleotide variant
(nonsense)
not provided
GPathogenic
NCKAP1
(L796S +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
NCKAP1
(Y788H +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
NCKAP1
(S786R +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
NCKAP1
(D777G +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
NCKAP1
(Q774K +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
NCKAP1
(L776F +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
NCKAP1
(N767D +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
NCKAP1
(V757M +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
NCKAP1
(Y746H +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
NCKAP1
(S742R +1 more)
Single nucleotide variant
(missense variant)
not provided
GLikely pathogenic
NCKAP1
(E732A +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
NCKAP1
(G722V +1 more)
Indel
(missense variant)
not provided
GUncertain significance
NCKAP1
(R705* +1 more)
Single nucleotide variant
(nonsense)
not provided
GPathogenic
NCKAP1
(M695I +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
NCKAP1
(N690S +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
NCKAP1
(S683F +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
NCKAP1
(P655R +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
NCKAP1
(Q648H +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
NCKAP1
(S595G +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
NCKAP1
(S595C +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
NCKAP1
Single nucleotide variant
(intron variant)
not provided
GBenign
NCKAP1
(A568T +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
NCKAP1
(Y545S +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
NCKAP1
(E535K +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
NCKAP1
(M486I +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
NCKAP1
(M460I +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
NCKAP1
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
NCKAP1
(Q360E +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
NCKAP1
(E326K +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
NCKAP1
(L268F +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
NCKAP1
(S237N +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
NCKAP1
(I233M +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
NCKAP1
(Y214fs +1 more)
Duplication
(frameshift variant)
not provided
GUncertain significance
NCKAP1
(L210P +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
NCKAP1
Deletion
(splice acceptor variant)
not provided
GUncertain significance
NCKAP1
(V197L +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
NCKAP1
(G38R)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
NCKAP1
(N33H)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
NCKAP1
(R30C)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
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