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Items: 97

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ACAD10, ACADS
+4836 more
Copy number gain
See cases
GPathogenic
CNTN1, LINC01779
+25 more
Copy number gain
See cases
GUncertain significance
ADAMTS20, ANO6
+113 more
Copy number loss
See cases
GPathogenic
CNTN1, LOC126861507
+2 more
Copy number gain
See cases
GUncertain significance
PDZRN4
(E17G)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PDZRN4
(G22D)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PDZRN4
(E27Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PDZRN4
(P44S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PDZRN4
(Q57H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PDZRN4
(P61A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PDZRN4
(S91L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PDZRN4
(R93K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PDZRN4
(H103D)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PDZRN4
(A109T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PDZRN4
(R111G)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PDZRN4
(S114N)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PDZRN4
(G116A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PDZRN4
(G117A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PDZRN4
(G123R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PDZRN4
(G131R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PDZRN4
(G132R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PDZRN4
(G132S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PDZRN4
(P135R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PDZRN4
(A145E)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PDZRN4
(W154G)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PDZRN4
(L187F)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PDZRN4
(F206I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PDZRN4
(N25S +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PDZRN4
(K303E +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PDZRN4
(P319T +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PDZRN4
(P354L +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PDZRN4
(M116K +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PDZRN4
(N124S +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PDZRN4
(S387I +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PDZRN4
(D135E +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PDZRN4
(R163Q +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PDZRN4
(R448Q +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PDZRN4
(R194Q +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PDZRN4
(I479V +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PDZRN4
(H257Q +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PDZRN4
(E527K +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PDZRN4
(Q270R +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PDZRN4
(E276K +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PDZRN4
(T538I +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PDZRN4
(A284V +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PDZRN4
(E302G +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PDZRN4
(R305Q +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PDZRN4
(D576N +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PDZRN4
(P319T +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PDZRN4
(Y344N +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PDZRN4
(I359V +1 more)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
PDZRN4
(N361K +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PDZRN4
(E364K +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PDZRN4
(C624S +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PDZRN4
(Y385D +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PDZRN4
(L415M +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PDZRN4
(G448E +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PDZRN4
(F449I +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PDZRN4
(M458I +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PDZRN4
(P728L +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PDZRN4
(R746G +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PDZRN4
(S790L +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PDZRN4
(V552I +1 more)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
PDZRN4
(E554K +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PDZRN4
(Q819K +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PDZRN4
(E820K +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PDZRN4
(K563R +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PDZRN4
(L830F +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PDZRN4
(S831F +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PDZRN4
(P574A +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PDZRN4
(R590W +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PDZRN4
(S868N +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PDZRN4
(K634I +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PDZRN4
(I635M +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PDZRN4
(D638N +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PDZRN4
(E687A +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PDZRN4
(S977R +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PDZRN4
(S979T +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PDZRN4
(K725R +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PDZRN4
(N728D +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PDZRN4
(K735R +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PDZRN4
(M737V +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PDZRN4
(I745F +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PDZRN4
(L1013R +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PDZRN4
(H769P +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ABCD2, ADAMTS20
+34 more
Copy number gain
not specified
GPathogenic
ABCD2, C12orf40
+11 more
Copy number loss
not provided
GUncertain significance
ABCD2, ADAMTS20
+72 more
Copy number gain
not specified
GPathogenic
PPHLN1, PRICKLE1
+66 more
Copy number gain
See cases
GLikely pathogenic
PRICKLE1, GXYLT1
+8 more
Copy number gain
not provided
GUncertain significance
CNTN1, ABCD2
+6 more
Copy number gain
not provided
GUncertain significance
CNTN1, GXYLT1
+8 more
Duplication
not provided
GUncertain significance
BICD1, HDAC7
+212 more
Inversion
not specified
GUncertain significance
SLC15A5, SLC16A7
+1006 more
Copy number gain
See cases
GPathogenic
A2M, A2ML1
+1006 more
Copy number gain
See cases
GPathogenic
GALNT8, H2AJ
+1007 more
Copy number gain
See cases
GPathogenic
ABCD2, ADAMTS20
+92 more
Copy number gain
See cases
GPathogenic
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