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Items: 25

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC126860438, LOC126860439
+3663 more
Copy number gain
See cases
GPathogenic
AARD, ABRA
+3663 more
Copy number gain
See cases
GPathogenic
AARD, ABRA
+3661 more
Copy number gain
See cases
GPathogenic
LOC105379224, LOC105379230
+3657 more
Copy number gain
See cases
GPathogenic
AARD, ABRA
+3661 more
Copy number gain
See cases
GPathogenic
LOC129999966, LOC129999967
+3111 more
Copy number gain
See cases
GPathogenic
LOC126860489, LOC126860490
+1963 more
Copy number gain
See cases
GPathogenic
AARD, ABRA
+1691 more
Copy number gain
See cases
GPathogenic
LOC126860535, LOC126860536
+1687 more
Copy number gain
See cases
GPathogenic
LOC105375713, LOC105375742
+1553 more
Copy number gain
See cases
GPathogenic
AARD, ABRA
+1153 more
Copy number gain
See cases
GPathogenic
LOC130001109, LOC130001110
+1532 more
Copy number gain
See cases
GPathogenic
LOC130001226, LOC130001227
+1407 more
Copy number gain
See cases
GPathogenic
AARD, ABRA
+1330 more
Copy number gain
See cases
GPathogenic
LOC130000987, LOC130000988
+1205 more
Copy number gain
See cases
GPathogenic
LOC130001173, LOC130001174
+1068 more
Copy number gain
See cases
GPathogenic
LOC110120802, LOC111556135
+93 more
Copy number loss
See cases
GPathogenic
AARD, ANXA13
+315 more
Copy number loss
See cases
GPathogenic
MTBP, RAD21
+101 more
Copy number loss
See cases
GPathogenic
LOC130001070, LOC130001071
+962 more
Copy number gain
See cases
GPathogenic
AARD, CCN3
+108 more
Copy number loss
See cases
GPathogenic
AARD, CCN3
+106 more
Copy number loss
See cases
GPathogenic
LOC130001241, LOC130001242
+559 more
Copy number gain
Neurodevelopmental disorder
GPathogenic
AARD, EIF3H
+19 more
Copy number loss
See cases
GUncertain significance
RAD21, RAD21-AS1
Single nucleotide variant
(5 prime UTR variant +1 more)
not specified
+1 more
GBenign
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