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Links from Gene

Items: 75

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
DLGAP4
(A102P +1 more)
Single nucleotide variant
(5 prime UTR variant +1 more)
not specified
GUncertain significance
DLGAP4
(P461A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DLGAP4
(M166T +5 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
DLGAP4
(V164I +4 more)
Single nucleotide variant
(5 prime UTR variant +1 more)
not specified
GUncertain significance
DLGAP4
(E128K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DLGAP4
(A131T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DLGAP4
(D720N +5 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DLGAP4
(R29H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DLGAP4
(R232C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DLGAP4
(A161V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DLGAP4, DLGAP4-AS1
(E210Q +5 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DLGAP4
(R218H +5 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DLGAP4
(P192L +5 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DLGAP4
(A88T +1 more)
Single nucleotide variant
(5 prime UTR variant +1 more)
not specified
GLikely benign
DLGAP4
(S76N +1 more)
Single nucleotide variant
(5 prime UTR variant +1 more)
not specified
GUncertain significance
DLGAP4
(S614R +1 more)
Single nucleotide variant
(5 prime UTR variant +1 more)
not specified
GUncertain significance
DLGAP4
(S527N)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DLGAP4
(S441G)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DLGAP4
(V440I)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
DLGAP4
(E43K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DLGAP4
(L416M)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DLGAP4
(G367V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
AAR2, DLGAP4
+1 more
Copy number gain
not provided
GUncertain significance
DLGAP4, DLGAP4-AS1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
DLGAP4
(C184Y +5 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DLGAP4
(R232H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DLGAP4, DLGAP4-AS1
(V929F +5 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DLGAP4, DLGAP4-AS1
(P234L +5 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DLGAP4
(P788S +5 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DLGAP4, DLGAP4-AS1
(A238T +5 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DLGAP4
(R263Q +5 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DLGAP4
(R45C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DLGAP4
(D352N)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DLGAP4
(P33L +1 more)
Single nucleotide variant
(5 prime UTR variant +1 more)
not specified
GUncertain significance
DLGAP4
(R126H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DLGAP4
(A481V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DLGAP4
(S234L +5 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DLGAP4
(K189E)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DLGAP4
(H303Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DLGAP4
(E484K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DLGAP4
(S115F +1 more)
Single nucleotide variant
(5 prime UTR variant +1 more)
not specified
GUncertain significance
DLGAP4
(N219S +5 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DLGAP4
(T497M)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DLGAP4
(E350Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DLGAP4
(A266T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DLGAP4
(G213D)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DLGAP4
(V334A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DLGAP4
(S342N)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DLGAP4
(V282M)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DLGAP4
(P240S +5 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DLGAP4
(P618L +1 more)
Single nucleotide variant
(5 prime UTR variant +1 more)
not specified
GUncertain significance
DLGAP4
(R116C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DLGAP4, DLGAP4-AS1
(P233T +5 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DLGAP4
(R208W +5 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DLGAP4
(A39V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DLGAP4, DLGAP4-AS1
(R235C +5 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DLGAP4
(P270L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
AAR2, ACSS2
+98 more
Copy number gain
not provided
GLikely pathogenic
ACOT8, ACTR5
+124 more
Deletion
Focal-onset seizure
GLikely pathogenic
DLGAP4
(A245T)
Single nucleotide variant
(missense variant)
not provided
GBenign
DLGAP4
(G165S)
Single nucleotide variant
(missense variant)
not provided
GBenign
DLGAP4, DLGAP4-AS1
Single nucleotide variant
(synonymous variant)
not provided
GBenign
DLGAP4, DLGAP4-AS1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
DLGAP4
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
DLGAP4
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
DLGAP4
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
GLikely benign
DLGAP4
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
GLikely benign
DLGAP4
(G540S)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
AAR2, ACSS2
+88 more
Copy number gain
not provided
GPathogenic
AAR2, ABHD12
+540 more
Copy number gain
See cases
GPathogenic
AAR2, ABHD12
+540 more
Copy number gain
See cases
GPathogenic
AAR2, ACOT8
+568 more
Copy number loss
See cases
GPathogenic
JPH2, KAT14
+2522 more
Copy number gain
See cases
GPathogenic
AAR2, ACSS2
+214 more
Copy number loss
See cases
GPathogenic
LOC613266, MACROD2
+950 more
Copy number gain
See cases
GPathogenic
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