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Items: 86

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC129932539, LOC129932540
+1148 more
Copy number gain
See cases
GPathogenic
LOC120893174, LOC122149340
+166 more
Copy number loss
See cases
GPathogenic
CSRP1, CSRP1-AS1
+49 more
Copy number gain
See cases
GUncertain significance
IPO9-AS1, NAV1
(V591M +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
IPO9-AS1, NAV1
(R317H +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
IPO9-AS1, NAV1
(A614S +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
IPO9-AS1, NAV1
(A330V +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
IPO9-AS1, NAV1
(S626L +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
IPO9-AS1, NAV1
(M347T +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
IPO9-AS1, NAV1
(G636S +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
IPO9-AS1, NAV1
(R361H +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
IPO9-AS1, NAV1
(K673R +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
IPO9-AS1, NAV1
(M390T +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
IPO9-AS1, NAV1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
IPO9-AS1, NAV1
(L456V +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
IPO9-AS1, NAV1
(R66C +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
IPO9-AS1, NAV1
(F473L +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
IPO9-AS1, NAV1
(E478K +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
IPO9-AS1, NAV1
(S488N +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
IPO9-AS1, NAV1
(R110Q +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
IPO9-AS1, NAV1
Single nucleotide variant
(synonymous variant)
not provided
GBenign
IPO9-AS1, NAV1
(H134Y +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
IPO9-AS1, NAV1
(V178M +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
IPO9-AS1, NAV1
(R872H +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
IPO9-AS1, NAV1
(R207H +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
IPO9-AS1, NAV1
(K217E +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
IPO9-AS1, NAV1
Single nucleotide variant
(synonymous variant)
not provided
GBenign
IPO9-AS1, NAV1
(R645H +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
IPO9-AS1, NAV1
(R665C +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
IPO9-AS1, NAV1
(R958C +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
IPO9-AS1, NAV1
(G295S +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
IPO9-AS1, NAV1
(V694M +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
IPO9-AS1, NAV1
(R334W +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
IPO9-AS1, NAV1
(E346Q +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
IPO9-AS1, NAV1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
IPO9-AS1, NAV1
Single nucleotide variant
(synonymous variant)
not provided
GBenign
IPO9-AS1, NAV1
(N1087S +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
IPO9-AS1, NAV1
(T817N +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
IPO9-AS1, NAV1
(V432A +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
IPO9-AS1, NAV1
(S448F +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
IPO9-AS1, NAV1
(I1135V +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
IPO9-AS1, NAV1
(G1152S +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
IPO9-AS1, NAV1
(P1156S +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
IPO9-AS1, NAV1
(E871D +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
IPO9-AS1, NAV1
(V904I +2 more)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
IPO9-AS1, NAV1
(T919M +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
IPO9-AS1, NAV1
(W533C +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
IPO9-AS1, NAV1
(S1222G +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
IPO9-AS1, NAV1
(R938Q +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
IPO9-AS1, NAV1
(L557fs +2 more)
Deletion
(frameshift variant)
not specified
GUncertain significance
IPO9-AS1, NAV1
(E1243Q +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
IPO9-AS1, NAV1
(L1272F +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
IPO9-AS1, NAV1
(T1017S +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
IPO9-AS1, NAV1
(S1065C +4 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
IPO9-AS1, NAV1
(S1310Y +4 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
IPO9-AS1, NAV1
(R1084W +7 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
IPO9-AS1, NAV1
Single nucleotide variant
(synonymous variant)
not provided
GBenign
IPO9-AS1, NAV1
(I1376V +7 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
IPO9-AS1, NAV1
(G1162E +7 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
IPO9-AS1, NAV1
(R730I +7 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
IPO9-AS1, NAV1
(Q1401E +7 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
IPO9-AS1, NAV1
(H738R +7 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
IPO9-AS1, NAV1
(A1205V +7 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
IPO9-AS1, NAV1
(S1468W +8 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
IPO9-AS1, NAV1
(V1506M +8 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
IPO9-AS1, NAV1
(T819I +8 more)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
IPO9-AS1, NAV1
(A1285T +8 more)
Single nucleotide variant
(missense variant)
not provided
GBenign
IPO9-AS1, NAV1
(S1527L +8 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
IPO9-AS1, NAV1
Single nucleotide variant
(synonymous variant)
not provided
GBenign
IPO9-AS1, NAV1
(T1628N +8 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
IPO9-AS1, NAV1
(R1384H +8 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
IPO9-AS1, NAV1
(R1604C +8 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
IPO9-AS1, NAV1
(G1396S +8 more)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
IPO9-AS1, NAV1
(T1632A +8 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
IPO9-AS1, NAV1
(C1044S +8 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
IPO9-AS1, NAV1
Single nucleotide variant
(synonymous variant)
not provided
GBenign
IPO9-AS1, NAV1
(S1516L +8 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
IPO9-AS1, NAV1
(V1527I +8 more)
Single nucleotide variant
(missense variant)
not provided
GBenign
IPO9-AS1, NAV1
Single nucleotide variant
(synonymous variant)
not provided
GBenign
IPO9-AS1, NAV1
(W1259* +8 more)
Single nucleotide variant
(nonsense)
Autism spectrum disorder
GLikely benign
IPO9-AS1, NAV1
(H1323R +8 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
IPO9-AS1, NAV1
(S2058G +8 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
IPO9-AS1, NAV1
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GBenign
IPO9-AS1, NAV1
(L1425P +8 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
IPO9, IPO9-AS1
(G12R)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
IPO9, IPO9-AS1
(L13M)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
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