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Items: 54

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
LINC01558, LINC02487
+3 more
Copy number gain
See cases
GBenign
ACAT2, AFDN
+79 more
Copy number loss
See cases
GPathogenic
AFDN, C6orf118
+33 more
Copy number loss
not specified
GPathogenic
CCR6, CEP43
+33 more
Copy number loss
not provided
GPathogenic
AFDN, C6orf120
+22 more
Copy number loss
not provided
GPathogenic
AFDN, AGPAT4
+37 more
Copy number loss
not provided
GPathogenic
ACAT2, AFDN
+54 more
Copy number gain
not provided
GUncertain significance
AFDN, C6orf118
+32 more
Copy number loss
not provided
GPathogenic
AFDN, C6orf118
+31 more
Copy number loss
not provided
GPathogenic
AFDN, C6orf120
+15 more
Copy number loss
See cases
GPathogenic
ACAT2, AFDN
+55 more
Copy number loss
Hydrocephalus
GPathogenic
AFDN, C6orf120
+21 more
Copy number loss
not specified
GPathogenic
AFDN, C6orf118
+32 more
Copy number loss
not specified
GPathogenic
AFDN, C6orf118
+33 more
Copy number loss
not specified
GPathogenic
AFDN, C6orf118
+33 more
Copy number gain
not specified
GPathogenic
AFDN, AGPAT4
+37 more
Copy number loss
not specified
GPathogenic
AFDN, C6orf120
+15 more
Copy number loss
not provided
GPathogenic
AFDN, C6orf120
+17 more
Copy number loss
not provided
GPathogenic
AFDN, C6orf120
+28 more
Copy number gain
not provided
GLikely pathogenic
AFDN, C6orf120
+20 more
Copy number loss
not provided
GPathogenic
CEP43, DACT2
+33 more
Copy number loss
not provided
GPathogenic
GPR31, KIF25
+33 more
Copy number loss
not provided
GPathogenic
AFDN, C6orf120
+25 more
Copy number loss
not provided
GPathogenic
AFDN, C6orf118
+33 more
Deletion
not provided
GLikely pathogenic
AFDN, C6orf120
+26 more
Copy number loss
not provided
GPathogenic
AFDN, C6orf120
+20 more
Copy number loss
not provided
GPathogenic
AFDN, C6orf118
+30 more
Copy number loss
not provided
GPathogenic
ACAT2, AFDN
+49 more
Copy number gain
not provided
GPathogenic
FNDC1, FRMD1
+86 more
Complex
Coffin-Siris syndrome 1
GPathogenic
AARS2, ABCC10
+1028 more
Copy number gain
See cases
GPathogenic
RING1, RIOK1
+1028 more
Copy number gain
See cases
GPathogenic
AFDN, C6orf118
+30 more
Copy number loss
See cases
GPathogenic
AFDN, C6orf120
+28 more
Copy number loss
See cases
GPathogenic
ACAT2, AFDN
+87 more
Copy number gain
See cases
GPathogenic
AFDN, C6orf118
+30 more
Copy number loss
See cases
GPathogenic
DACT2, QKI
+33 more
Copy number gain
See cases
GPathogenic
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