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Items: 29

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC129389719, LOC129389720
+866 more
Copy number gain
See cases
GPathogenic
LOC101929460, LOC102724087
+572 more
Copy number gain
See cases
GPathogenic
LOC129997640, LOC129997641
+564 more
Copy number loss
See cases
GPathogenic
ACAT2, AFDN
+549 more
Copy number loss
See cases
GPathogenic
IGF2R, KIF25
+540 more
Copy number loss
See cases
GPathogenic
LOC126859858, LOC126859859
+340 more
Copy number loss
See cases
GPathogenic
AFDN, AFDN-DT
+322 more
Copy number loss
See cases
GPathogenic
LOC129997629, LOC129997630
+323 more
Copy number loss
See cases
GPathogenic
AFDN, AFDN-DT
+300 more
Copy number loss
See cases
GPathogenic
AFDN, AFDN-DT
+298 more
Copy number loss
See cases
GPathogenic
AFDN, AFDN-DT
+278 more
Copy number loss
See cases
GPathogenic
AFDN, AFDN-DT
+255 more
Copy number loss
Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures
GPathogenic
LOC129997659, LOC129997660
+248 more
Copy number loss
See cases
GPathogenic
AFDN, AFDN-DT
+244 more
Copy number loss
See cases
GPathogenic
AFDN, AFDN-DT
+225 more
Copy number loss
See cases
GPathogenic
AFDN, AFDN-DT
+204 more
Copy number loss
See cases
GPathogenic
AFDN, AFDN-DT
+169 more
Copy number loss
See cases
GPathogenic
AFDN, AFDN-DT
+112 more
Copy number loss
See cases
GPathogenic
AFDN, AFDN-DT
+87 more
Copy number loss
See cases
GPathogenic
AFDN, C6orf120
+78 more
Copy number loss
See cases
GPathogenic
PHF10, PSMB1
+77 more
Copy number loss
See cases
GPathogenic
AFDN, DACT2
+19 more
Copy number gain
See cases
GUncertain significance
AFDN, DACT2
+13 more
Copy number gain
See cases
GBenign
AFDN, C6orf120
+77 more
Copy number loss
See cases
GPathogenic
FRMD1, KIF25
+5 more
Copy number gain
See cases
GBenign
FRMD1, LOC101929420
+4 more
Copy number gain
See cases
GBenign
C6orf120, DACT2
+68 more
Copy number loss
See cases
GPathogenic
DACT2, LOC101929420
+5 more
Copy number gain
See cases
GBenign
DACT2, LOC101929420
+6 more
Copy number gain
See cases
GBenign
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