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Items: 33

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ACTR1B, ADRA2B
+550 more
Copy number gain
See cases
GPathogenic
AFF3, C2orf15
+373 more
Copy number gain
See cases
GPathogenic
ACOXL, BUB1
+241 more
Copy number gain
See cases
GPathogenic
ACOXL, ACOXL-AS1
+154 more
Copy number gain
See cases
GUncertain significance
CCDC138, CD8B2
+99 more
Copy number gain
See cases
GUncertain significance
CCDC138, EDAR
+93 more
Copy number gain
See cases
GUncertain significance
CCDC138, EDAR
+61 more
Copy number gain
See cases
GUncertain significance
LIMS3, LIMS3-LOC440895
+33 more
Copy number gain
Autism spectrum disorder
GUncertain significance
LIMS3, LIMS3-LOC440895
+13 more
Copy number loss
See cases
GBenign
LIMS3, LIMS3-LOC440895
+15 more
Duplication
Autism spectrum disorder
+1 more
GUncertain significance
ACOXL, ACTR3
+121 more
Copy number loss
not specified
GPathogenic
LIMS3, LIMS4
+4 more
Copy number loss
not specified
GUncertain significance
ACOXL, ANAPC1
+27 more
Copy number loss
not specified
GPathogenic
LIMS3, MALL
+2 more
Copy number loss
not provided
GUncertain significance
CCDC138, EDAR
+15 more
Copy number gain
not provided
GUncertain significance
ACOXL, ANAPC1
+28 more
Copy number loss
not provided
GPathogenic
ACTG2, ACTR1B
+529 more
Copy number loss
See cases
GPathogenic
LIMS3, LIMS4
+4 more
Copy number gain
See cases
GUncertain significance
LIMS3, LIMS4
+4 more
Copy number loss
Tetralogy of Fallot
+1 more
GConflicting classifications of pathogenicity
ABCA12, ABCB11
+1216 more
Copy number gain
Mosaic trisomy 2
GPathogenic
ANAPC1, SULT1C4
+28 more
Copy number loss
not provided
GPathogenic
EDAR, CCDC138
+7 more
Copy number gain
not provided
GUncertain significance
C2orf15, C2orf49
+122 more
Copy number gain
not provided
GPathogenic
NPHP1, CCDC138
+18 more
Copy number loss
not provided
GLikely pathogenic
LIMS4, NPHP1
+6 more
Copy number gain
not provided
GLikely benign
ACOXL, BCL2L11
+20 more
Duplication
not provided
GLikely pathogenic
ACMSD, C2orf27A
+486 more
Deletion
not provided
GLikely pathogenic
CCDC74B, CCDC93
+218 more
Copy number loss
Poly (ADP-Ribose) polymerase inhibitor response
Gdrug response
RGPD4, RGPD5
+1214 more
Copy number gain
See cases
GPathogenic
IL1F10, IL1R1
+1214 more
Copy number gain
See cases
GPathogenic
BUB1, PSD4
+53 more
Copy number loss
See cases
GPathogenic
TMEM87B, IL37
+40 more
Copy number loss
See cases
GPathogenic
RGPD8, ACTR3
+63 more
Copy number loss
See cases
GPathogenic
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