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Items: 91

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
JPH2, KAT14
+2522 more
Copy number gain
See cases
GPathogenic
AAR2, ACOT8
+568 more
Copy number loss
See cases
GPathogenic
ABHD16B, ACOT8
+1024 more
Copy number gain
See cases
GPathogenic
LINC01754, LOC116286208
+19 more
Copy number gain
See cases
GLikely benign
NCOA3
(L11P)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NCOA3
(R18C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NCOA3
(R36W)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
NCOA3
(N91I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NCOA3
(K110E)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NCOA3
(N140S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NCOA3
(V153L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NCOA3
(N159S)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
NCOA3
(T187N)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NCOA3
(R220I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NCOA3
(R251C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NCOA3
(N263K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NCOA3
(N279S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NCOA3
(R317C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NCOA3
(E321Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NCOA3
(N325D +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NCOA3
(R334Q +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NCOA3
(F362C +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NCOA3
(F362L +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NCOA3
(P399L +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NCOA3
(S402T +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NCOA3
(A416T +1 more)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
NCOA3
(M448I +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NCOA3
(S464G +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NCOA3
(H468R +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NCOA3
(L473F +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NCOA3
(P475R +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NCOA3
(S540R +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NCOA3
(P562S +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NCOA3
(T557I +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NCOA3
(P569S +1 more)
Single nucleotide variant
(missense variant)
not provided
GBenign
NCOA3
(V562A +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NCOA3
(H618Y +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NCOA3
(R642Q +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NCOA3
(E648Q +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NCOA3
(L688V +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NCOA3
(P747T +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NCOA3
(S762F +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NCOA3
(P785R +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NCOA3
(V845L +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NCOA3
(S873C +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NCOA3
(V864I +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NCOA3
(G865D +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NCOA3
(S874N +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NCOA3
(S932C +1 more)
Single nucleotide variant
(missense variant)
Bilateral sensorineural hearing impairment
GPathogenic
NCOA3
(P954A +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NCOA3
(Q971E +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NCOA3
(Q1000H +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NCOA3
(Q1001* +1 more)
Single nucleotide variant
(nonsense)
not provided
GUncertain significance
NCOA3
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
NCOA3
(S1048R +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NCOA3
(N1078S +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NCOA3
(T1109R +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NCOA3
(P1115L +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NCOA3
(M1122V +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NCOA3
(G1125D +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NCOA3
(Q1129E +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NCOA3
(M1133V +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NCOA3
(M1137R +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NCOA3
(R1156Q +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NCOA3
(R1158W +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NCOA3
(P1167R +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NCOA3
(Q1176H +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NCOA3
(P1193A +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NCOA3
(A1198T +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NCOA3
(Q1214R +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
NCOA3
(R1230Q +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
LOC109621227, NCOA3
Microsatellite
(inframe_deletion)
not provided
GBenign
LOC109621227, NCOA3
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
LOC109621227, NCOA3
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
LOC109621227, NCOA3
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
NCOA3
(T1276S +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NCOA3
(P1289L +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NCOA3
(G1297R +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NCOA3
(Q1311P +3 more)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
NCOA3
(Q1320P +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NCOA3
(N1329I +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NCOA3
(N1329S +3 more)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
NCOA3
(S1339F +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NCOA3
Single nucleotide variant
(synonymous variant)
not specified
GLikely benign
NCOA3, SULF2
Copy number gain
not provided
GUncertain significance
NCOA3, SULF2
Copy number gain
not provided
GUncertain significance
EYA2, NCOA3
+1 more
Copy number gain
not provided
GUncertain significance
PREX1, PTGIS
+79 more
Copy number loss
Developmental and epileptic encephalopathy, 26
GPathogenic
ACOT8, ACTR5
+124 more
Deletion
Focal-onset seizure
GLikely pathogenic
AAR2, ABHD12
+540 more
Copy number gain
See cases
GPathogenic
AAR2, ABHD12
+540 more
Copy number gain
See cases
GPathogenic
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