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Items: 55

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC111365169, LOC111365189
+833 more
Copy number gain
See cases
GPathogenic
MIR6869, MIR6870
+828 more
Copy number gain
See cases
GPathogenic
LOC126862999, LOC126863005
+814 more
Copy number gain
See cases
GPathogenic
LOC130065566, LOC130065567
+2522 more
Copy number gain
See cases
GPathogenic
LOC130065574, LOC130065575
+950 more
Copy number gain
See cases
GPathogenic
ABHD12, ACSS1
+174 more
Copy number gain
See cases
GPathogenic
ABHD12, ACSS1
+45 more
Copy number gain
See cases
GUncertain significance
ZNF337, ZNF337-AS1
(R740H)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
ZNF337, ZNF337-AS1
(R740G)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
ZNF337, ZNF337-AS1
(R740C)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
ZNF337, ZNF337-AS1
(R720L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF337, ZNF337-AS1
(Q688R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF337, ZNF337-AS1
(W676R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF337, ZNF337-AS1
(Q663R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF337, ZNF337-AS1
(V660A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF337, ZNF337-AS1
(S651L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF337, ZNF337-AS1
(K631E)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF337, ZNF337-AS1
(G596R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF337, ZNF337-AS1
(P571L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF337, ZNF337-AS1
(R570K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF337, ZNF337-AS1
(Q548P)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF337, ZNF337-AS1
(P529L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF337, ZNF337-AS1
(R523Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF337, ZNF337-AS1
(L511M)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF337, ZNF337-AS1
(H510Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF337, ZNF337-AS1
(R495Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF337, ZNF337-AS1
(R467Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF337, ZNF337-AS1
(V448M)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF337, ZNF337-AS1
(I442N)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF337, ZNF337-AS1
(S412R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF337, ZNF337-AS1
(G389V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF337, ZNF337-AS1
(A377V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF337, ZNF337-AS1
(E373K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF337, ZNF337-AS1
(R355Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF337, ZNF337-AS1
(R340K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF337, ZNF337-AS1
(H338Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF337, ZNF337-AS1
(T330A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF337, ZNF337-AS1
(E324Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF337, ZNF337-AS1
(P319T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF337, ZNF337-AS1
(P319A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF337, ZNF337-AS1
(N308D)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF337, ZNF337-AS1
(R299Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF337, ZNF337-AS1
(G288R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF337, ZNF337-AS1
(Y273C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF337, ZNF337-AS1
(T231R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF337, ZNF337-AS1
(Q215R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF337, ZNF337-AS1
(F208V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF337, ZNF337-AS1
(H198Y)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF337, ZNF337-AS1
(R191Q)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
ZNF337, ZNF337-AS1
(R185H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF337, ZNF337-AS1
(V168L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF337, ZNF337-AS1
(T163R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF337, ZNF337-AS1
(V149I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF337, ZNF337-AS1
(P93A)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
ZNF337, ZNF337-AS1
(R92Q)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
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