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Items: 15

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LINC02811, LITATS1
+1147 more
Copy number gain
See cases
GPathogenic
A3GALT2, ACOT11
+1226 more
Inversion
Bilateral polymicrogyria
GLikely pathogenic
AKIRIN1, BMP8A
+268 more
Copy number loss
See cases
GPathogenic
ARTN, ATP6V0B
+279 more
Copy number loss
See cases
GPathogenic
ARTN, ATP6V0B
+253 more
Copy number loss
See cases
GPathogenic
C1orf50, CCDC30
+142 more
Copy number loss
See cases
GPathogenic
CITED4, GUCA2A
+20 more
Copy number loss
not provided
GUncertain significance
AKIRIN1, BMP8A
+40 more
Copy number loss
not specified
GLikely pathogenic
A3GALT2, ADPRS
+202 more
Copy number gain
not specified
GPathogenic
AGL, AGMAT
+783 more
Copy number gain
Intellectual disability, mild
+1 more
GUncertain significance
KCNQ4, KDM4A
+179 more
Duplication
Charcot-Marie-Tooth disease dominant intermediate C
GUncertain significance
CD34, CD46
+2014 more
Copy number gain
See cases
GPathogenic
GPATCH2, GPATCH3
+2014 more
Copy number gain
See cases
GPathogenic
ZFP69, EDN2
+12 more
Copy number loss
See cases
GUncertain significance
RIMKLA, FOXO6
+11 more
Copy number loss
See cases
GLikely pathogenic
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