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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
LOC130064626, LOC130064627
+215 more
Duplication
Schizophrenia
GLikely pathogenic
ZNF155
(T2I)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ZNF155
(Q61R +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF155
(G76E +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF155
(A92T +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF155
(S132F +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF155
(V145A +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF155
(K152R +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF155
(G200R +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF155
(E223K +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF155
(H237R +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF155
(R243H +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF155
(N248K +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF155
(F280L +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF155
(Q285H +1 more)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
ZNF155
(I281N +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF155
(G295W +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF155
(C293R +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF155
(P315S +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF155
(R344M +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF155
(C346S +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF155, ZNF230-DT
(Q348E +1 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GLikely benign
ZNF155, ZNF230-DT
(E369K +1 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
ZNF155, ZNF230-DT
(S399N +1 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
ZNF155, ZNF230-DT
(G436D +1 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
ZNF155, ZNF230-DT
(Y437S +1 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
ZNF155, ZNF230-DT
(V438I +1 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
ZNF155, ZNF230-DT
(T450S +1 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
ZNF155, ZNF230-DT
(L445M +1 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
ZNF155, ZNF230-DT
(C461G +1 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
ZNF155, ZNF230-DT
(S469L +1 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
ZNF155, ZNF230-DT
(R487K +1 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
ZNF155, ZNF230-DT
(C486Y +1 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
ZNF155, ZNF230-DT
(L493F +1 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GLikely benign
ZNF155, ZNF230-DT
(V494L +1 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
ZNF155, ZNF230-DT
(R499G +1 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
ZNF229, ZNF230
+37 more
Duplication
Ethylmalonic encephalopathy
GUncertain significance
ACP7, ACTMAP
+434 more
Copy number gain
not provided
GPathogenic
BICRA, BLOC1S3
+1364 more
Copy number gain
See cases
GPathogenic
A1BG, ABCA7
+1364 more
Copy number gain
See cases
GPathogenic
APOC1, APOC2
+39 more
Copy number loss
See cases
GUncertain significance
ERCC2, PPP5C
+121 more
Copy number loss
See cases
GPathogenic
CEACAM20, ZNF112
+16 more
Copy number loss
Breast ductal adenocarcinoma
GUncertain significance
BCAM, BCL3
+22 more
Complex
Breast ductal adenocarcinoma
GUncertain significance
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