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Items: 45

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ABHD8, ACP5
+2135 more
Copy number gain
See cases
GPathogenic
ALKBH6, ANKRD27
+459 more
Copy number loss
See cases
GPathogenic
ALKBH6, ANKRD27
+439 more
Copy number loss
See cases
GPathogenic
ZNF790, ZNF790-AS1
(S629G)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF790, ZNF790-AS1
(E618K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF790, ZNF790-AS1
(F613S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF790, ZNF790-AS1
(I610S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF790, ZNF790-AS1
(Y594S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF790, ZNF790-AS1
(T592A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF790, ZNF790-AS1
(V535I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF790, ZNF790-AS1
(G518R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF790, ZNF790-AS1
(E510G)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF790, ZNF790-AS1
(C508Y)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF790, ZNF790-AS1
(H496Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF790, ZNF790-AS1
(E479K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF790, ZNF790-AS1
(G474A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF790, ZNF790-AS1
(H468Y)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF790, ZNF790-AS1
(F465L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF790, ZNF790-AS1
(E464G)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF790, ZNF790-AS1
(G462D)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF790, ZNF790-AS1
(K442E)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF790, ZNF790-AS1
(W433C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF790, ZNF790-AS1
(E423Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF790, ZNF790-AS1
(R377H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF790, ZNF790-AS1
(G372R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF790, ZNF790-AS1
(R330I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF790, ZNF790-AS1
(H324L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF790, ZNF790-AS1
(H324N)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF790, ZNF790-AS1
(A318T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF790, ZNF790-AS1
(E311Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF790, ZNF790-AS1
(P309S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF790, ZNF790-AS1
(E307G)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF790, ZNF790-AS1
(R274Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF790, ZNF790-AS1
(S240R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF790, ZNF790-AS1
(V156M)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF790, ZNF790-AS1
(Q134P)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF790, ZNF790-AS1
(T125A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF790, ZNF790-AS1
(C116Y)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF790, ZNF790-AS1
(L112V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF790, ZNF790-AS1
(R105S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF790, ZNF790-AS1
(I103L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF790, ZNF790-AS1
(Q83H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF790, ZNF790-AS1
(W19G)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
ZNF790, ZNF790-AS1
(V12E)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
ZNF790, ZNF790-AS1
(A11G)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
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