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Items: 1 to 100 of 1329

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ABLIM3, ACSL6
+1672 more
Copy number loss
See cases
GPathogenic
LOC129994992, LOC129994993
+1157 more
Copy number gain
See cases
GPathogenic
ABLIM3, ACSL6
+1218 more
Copy number gain
See cases
GPathogenic
ANKHD1, ANKHD1-DT
+377 more
Copy number loss
See cases
GPathogenic
ARAP3, DELE1
+123 more
Copy number loss
See cases
GUncertain significance
ABLIM3, ADRB2
+313 more
Copy number gain
See cases
GPathogenic
PCDHG@, PCDHGA1
(H32N)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PCDHG@, PCDHGA1
(D61H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PCDHG@, PCDHGA1
(V64I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PCDHG@, PCDHGA1
(I90M)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PCDHG@, PCDHGA1
(M100V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PCDHG@, PCDHGA1
(V110F)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PCDHG@, PCDHGA1
(D112V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PCDHG@, PCDHGA1
(K113E)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PCDHG@, PCDHGA1
(S169R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PCDHG@, PCDHGA1
(Q171L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PCDHG@, PCDHGA1
(H191Y)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PCDHG@, PCDHGA1
(P192S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PCDHG@, PCDHGA1
(L200V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PCDHG@, PCDHGA1
(T213I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PCDHG@, PCDHGA1
(R222C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PCDHG@, PCDHGA1
(R222H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PCDHG@, PCDHGA1
(I230V)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
PCDHG@, PCDHGA1
(Q231H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PCDHG@, PCDHGA1
(V232A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PCDHG@, PCDHGA1
(H286D)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PCDHG@, PCDHGA1
(H286L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PCDHG@, PCDHGA1
(Q290H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PCDHG@, PCDHGA1
(V319L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PCDHG@, PCDHGA1
(D323G)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PCDHG@, PCDHGA1
(A325V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PCDHG@, PCDHGA1
(V331I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PCDHG@, PCDHGA1
(A344S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PCDHG@, PCDHGA1
(R403H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PCDHG@, PCDHGA1
(L432V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PCDHG@, PCDHGA1
(V474A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PCDHG@, PCDHGA1
(H477Y)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PCDHG@, PCDHGA1
(Y489H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PCDHG@, PCDHGA1
(L491V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PCDHG@, PCDHGA1
(I492T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PCDHG@, PCDHGA1
(D494N)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PCDHG@, PCDHGA1
(G512W)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PCDHG@, PCDHGA1
(D521E)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PCDHG@, PCDHGA1
(M528V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PCDHG@, PCDHGA1
(V532M)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PCDHG@, PCDHGA1
(S543G)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PCDHG@, PCDHGA1
(V546L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PCDHG@, PCDHGA1
(V546E)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PCDHG@, PCDHGA1
(S547Y)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PCDHG@, PCDHGA1
(T569K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PCDHG@, PCDHGA1
(T573S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PCDHG@, PCDHGA1
(L580R)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
PCDHG@, PCDHGA1
(D670H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PCDHG@, PCDHGA1
(H714L)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
PCDHG@, PCDHGA1
(S734G)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
PCDHG@, PCDHGA1
(G737C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PCDHG@, PCDHGA1
(G737V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PCDHG@, PCDHGA1
(V743M)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PCDHG@, PCDHGA1
(Y753N)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PCDHG@, PCDHGA1
(Y753C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PCDHG@, PCDHGA1
(H755Y)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PCDHG@, PCDHGA1
(P773S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PCDHG@, PCDHGA1
+1 more
(Q5K)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PCDHG@, PCDHGA1
+1 more
(K6Q)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PCDHG@, PCDHGA1
+1 more
(H9R)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PCDHG@, PCDHGA1
+1 more
(V14I)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PCDHG@, PCDHGA1
+1 more
(V14A)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PCDHG@, PCDHGA1
+1 more
(S68Y)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PCDHG@, PCDHGA1
+1 more
(E120G)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PCDHG@, PCDHGA1
+1 more
(R132S)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PCDHG@, PCDHGA1
+1 more
(I142T)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PCDHG@, PCDHGA1
+1 more
(Y170H)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PCDHG@, PCDHGA1
+1 more
(A171P)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PCDHG@, PCDHGA1
+1 more
(V211I)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PCDHG@, PCDHGA1
+1 more
(G218V)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PCDHG@, PCDHGA1
+1 more
(I228M)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PCDHG@, PCDHGA1
+1 more
(T265A)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PCDHG@, PCDHGA1
+1 more
(T297K)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PCDHG@, PCDHGA1
+1 more
(V335I)
Single nucleotide variant
(missense variant +1 more)
not specified
GLikely benign
PCDHG@, PCDHGA1
+1 more
(D342N)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PCDHG@, PCDHGA1
+1 more
(S354G)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PCDHG@, PCDHGA1
+1 more
(A380S)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PCDHG@, PCDHGA1
+1 more
(A380T)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PCDHG@, PCDHGA1
+1 more
(L386F)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PCDHGA2, PCDHG@
+1 more
(T406P)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PCDHG@, PCDHGA1
+1 more
(L410F)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PCDHG@, PCDHGA1
+1 more
(A449V)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PCDHG@, PCDHGA1
+1 more
(R454C)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PCDHG@, PCDHGA1
+1 more
(I461V)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PCDHG@, PCDHGA1
+1 more
(H477R)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PCDHG@, PCDHGA1
+1 more
(N482D)
Single nucleotide variant
(missense variant +1 more)
not specified
GLikely benign
PCDHG@, PCDHGA1
+1 more
(S502C)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PCDHG@, PCDHGA1
+1 more
(Y504F)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PCDHG@, PCDHGA1
+1 more
(R518C)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PCDHGA2, PCDHG@
+1 more
(Q524H)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PCDHG@, PCDHGA1
+1 more
(W531R)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PCDHG@, PCDHGA1
+1 more
(S543N)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PCDHG@, PCDHGA1
+1 more
(V546I)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PCDHG@, PCDHGA1
+1 more
(S549N)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PCDHG@, PCDHGA1
+1 more
(V552L)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
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