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Items: 83

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CUL1, CUX1
+4737 more
Copy number loss
See cases
GPathogenic
LOC123956257, LOC123956258
+2213 more
Copy number gain
See cases
GPathogenic
AASS, ABCB8
+1547 more
Copy number gain
See cases
GPathogenic
AASS, ABCB8
+1380 more
Copy number gain
See cases
GPathogenic
ABCB8, ABCF2
+1176 more
Copy number gain
See cases
GPathogenic
PRKAG2, PRKAG2-AS1
+1052 more
Copy number gain
See cases
GPathogenic
LOC129389895, LOC129389896
+1046 more
Copy number gain
See cases
GPathogenic
TRBV27, TRBV28
+1025 more
Copy number gain
See cases
GPathogenic
OR2A2, OR2A25
+1025 more
Copy number gain
See cases
GPathogenic
TRC-GCA9-3, TRC-GCA9-4
+1019 more
Copy number gain
See cases
GPathogenic
LOC129999635, LOC129999636
+944 more
Copy number loss
See cases
GPathogenic
TRBC2, TRBD1
+455 more
Copy number loss
See cases
GPathogenic
ADCK2, AGK
+373 more
Copy number loss
See cases
GPathogenic
ABCB8, ABCF2
+908 more
Copy number gain
See cases
GPathogenic
EPHA1-AS1, EPHB6
+888 more
Copy number gain
Neurodevelopmental disorder
GPathogenic
AKR1D1, ATP6V0A4
+88 more
Copy number loss
See cases
GPathogenic
ABCB8, ABCF2
+692 more
Copy number gain
See cases
GPathogenic
CREB3L2
(S435G +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CREB3L2
(V434D +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CREB3L2
(E418K +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CREB3L2
(P406L +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CREB3L2
(G389S +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CREB3L2
(P381L +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CREB3L2
(P375L +1 more)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
CREB3L2
(P438T +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CREB3L2
(H372R +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CREB3L2
(V360M +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CREB3L2
(Y335C +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CREB3L2
(G329S +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CREB3L2
(V326I +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CREB3L2
(T368I +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CREB3L2
(K356R +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CREB3L2
(R285S +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CREB3L2
(N241S +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CREB3L2
(R236Q +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CREB3L2
(T190M +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CREB3L2
(R178Q +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CREB3L2
(S236C +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CREB3L2
(H225Y +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CREB3L2
(P144L +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CREB3L2
(D135G +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CREB3L2
(T88N +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CREB3L2
(V139I +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CREB3L2
(V46M +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CREB3L2
(H34R +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CREB3L2
(S30W +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CREB3L2
(R90Q +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CREB3L2
(R27W +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CREB3L2
(M31K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CREB3L2
(K17E)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
AASS, AGBL3
+100 more
Copy number loss
not specified
GPathogenic
ABCB8, ABCF2
+165 more
Copy number gain
not specified
GPathogenic
ARHGEF35, KEL
+169 more
Copy number loss
not provided
GPathogenic
CTAGE6, CTAGE8
+141 more
Deletion
not provided
GPathogenic
RAB19, RNY1
+123 more
Copy number loss
not provided
GPathogenic
AASS, ABCA13
+896 more
Copy number loss
See cases
GUncertain significance
CACNA2D1, CADPS2
+896 more
Complex
Ring chromosome 7
GPathogenic
AKR1D1, CREB3L2
+2 more
Copy number loss
not specified
GUncertain significance
CHCHD3, CHRM2
+88 more
Copy number loss
not specified
GPathogenic
ABCB8, ABCF2
+186 more
Copy number gain
not provided
GPathogenic
AKR1D1, CREB3L2
+1 more
Copy number gain
not provided
GUncertain significance
EPHA1, EPHB6
+105 more
Copy number loss
Hypertelorism
+7 more
GPathogenic
DGKI, CREB3L2
Copy number gain
not provided
GUncertain significance
AKR1D1, CREB3L2
Copy number gain
not provided
GUncertain significance
ABCB8, ABCF2
+190 more
Copy number loss
See cases
GPathogenic
TRIM24, PARP12
+20 more
Copy number loss
not provided
GPathogenic
CHRM2, KRBA1
+295 more
Copy number gain
not provided
GPathogenic
AGBL3, AKR1D1
+16 more
Copy number loss
not provided
GUncertain significance
OR2A25, OR2A42
+192 more
Copy number gain
not provided
GPathogenic
CREB3L2, DGKI
Copy number gain
not provided
GUncertain significance
CREB3L2, DGKI
Copy number gain
not provided
GUncertain significance
PRSS1, PRSS37
+896 more
Copy number gain
not provided
GPathogenic
AKR1D1, ATP6V0A4
+12 more
Copy number loss
not provided
GUncertain significance
ABCB8, ABCF2
+229 more
Copy number gain
not provided
GPathogenic
DGKI, SVOPL
+74 more
Complex
Renal transitional cell carcinoma
GLikely pathogenic
AASS, ABCB8
+436 more
Copy number gain
not provided
GPathogenic
AKR1B10, STRA8
+24 more
Copy number loss
not provided
GPathogenic
AKR1D1, ATP6V0A4
+22 more
Copy number gain
See cases
GUncertain significance
AVL9, AZGP1
+896 more
Copy number gain
See cases
GPathogenic
MCM7, MDFIC
+896 more
Copy number gain
See cases
GPathogenic
DGKI, DNAJB6
+166 more
Copy number gain
See cases
GPathogenic
AASS, ABCA13
+678 more
Deletion
Pleomorphic xanthoastrocytoma
GPathogenic
AGBL3, AKR1B1
+38 more
Copy number loss
See cases
GPathogenic
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