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Items: 90

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC130063254, LOC130063255
+810 more
Copy number gain
See cases
GPathogenic
ZNF562, ZNF699
+132 more
Duplication
Autism
GLikely pathogenic
KANK3, RPS28
(S797P)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
KANK3, RPS28
(E796K)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
KANK3
(A784S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KANK3
(A770T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KANK3
(V745M)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KANK3
(L733P)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KANK3
(T731R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KANK3
(A727E)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KANK3
(A717V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KANK3
(R708Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KANK3
(T695M)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KANK3
(M676T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KANK3
(R655Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KANK3
(L642F)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KANK3
(D620Y)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KANK3
(N617Y)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KANK3
(L612M)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KANK3
(R591C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KANK3
(F584Y)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KANK3
(V579M)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KANK3
(R577C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KANK3
(A542V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KANK3
(Q540L)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
KANK3
(A534G)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KANK3
(E533K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KANK3
(D529V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KANK3
(G501D)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KANK3
(A485D)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KANK3
(P464S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KANK3
(T455P)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KANK3
(R452T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KANK3
(D436E)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KANK3
(S423A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KANK3
(E420V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KANK3
(R398C)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
KANK3
(R394P)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KANK3
(A393V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KANK3
(A393T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KANK3
(G392E)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KANK3
(E384A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KANK3
(L379V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KANK3
(E378G)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KANK3
(G367R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KANK3
(L358R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KANK3
(E321D)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KANK3
(E306D)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KANK3
(E306Q)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
KANK3
(P298S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KANK3
(T297M)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KANK3
(G292W)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KANK3
(E290D)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KANK3
(R279S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KANK3, LOC130063417
(R268Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KANK3, LOC130063417
(R262H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KANK3, LOC130063417
(E258D)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KANK3, LOC130063417
(E258Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KANK3, LOC130063417
(D242V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KANK3, LOC130063417
(D242H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KANK3
(G235R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KANK3
(P233S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KANK3
(R228S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KANK3
(A226V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KANK3
(E209A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KANK3
(T206P)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KANK3
(E188A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KANK3
(E188K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KANK3, LOC130063418
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
KANK3, LOC130063418
(G179R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KANK3, LOC130063418
(G163V)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
KANK3, LOC130063418
(R162C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KANK3, LOC130063418
(P158S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KANK3, LOC130063418
(P153L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KANK3, LOC130063418
(A150P)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KANK3, LOC130063418
(R149L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KANK3, LOC130063418
(L143R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KANK3, LOC130063418
(S138G)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KANK3, LOC130063418
(T137S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KANK3, LOC130063418
(E136D)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KANK3, LOC130063418
(P124L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KANK3, LOC130063419
(I105T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KANK3
(P67S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KANK3, LOC130063420
(I52T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KANK3, LOC130063420
(S35W)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ADAMTS10, ANGPTL4
+35 more
Duplication
Mucolipidosis type IV
GUncertain significance
ANGPTL4, CAMSAP3
+30 more
Copy number gain
not provided
GUncertain significance
ACER1, ACSBG2
+165 more
Copy number gain
not provided
GPathogenic
PGLYRP1, PGLYRP2
+1364 more
Copy number gain
See cases
GPathogenic
TMC4, TMED1
+1364 more
Copy number gain
See cases
GPathogenic
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