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Items: 23

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
EDDM3B, EFCAB11
+3282 more
Copy number gain
See cases
GPathogenic
ABCD4, ABHD12B
+3277 more
Copy number gain
See cases
GPathogenic
TRI-AAT5-4, TRIP11
+1423 more
Copy number gain
See cases
GPathogenic
LOC126862009, LOC126862010
+1204 more
Copy number gain
See cases
GPathogenic
LOC130056505, LOC130056506
+1073 more
Copy number gain
See cases
GPathogenic
IGHD5-18, IGHD5-24
+881 more
Copy number gain
See cases
GPathogenic
LOC130056359, LOC130056360
+663 more
Copy number gain
See cases
GPathogenic
LOC130056380, LOC130056381
+755 more
Copy number loss
See cases
GPathogenic
IFI27L1, IGHA2
+182 more
Copy number gain
not provided
GPathogenic
CCNK, MIR376A1
+353 more
Copy number gain
not provided
GPathogenic
AK7, ATG2B
+17 more
Duplication
not provided
GUncertain significance
SYNE3, TC2N
+66 more
Duplication
not provided
GUncertain significance
ADSS1, AHNAK2
+185 more
Copy number gain
not provided
GPathogenic
OTUB2, PAPOLA
+80 more
Copy number gain
not provided
GLikely pathogenic
AREL1, ARF6
+447 more
Copy number gain
See cases
GPathogenic
PPP4R4, SERPINA1
+24 more
Copy number gain
not specified
GUncertain significance
AK7, ATG2B
+56 more
Copy number loss
not provided
GPathogenic
SERPINA10, SERPINA11
+74 more
Copy number loss
Deletion syndrome
GPathogenic
ATXN3, BAG5
+164 more
Copy number gain
not provided
GPathogenic
AK7, ASB2
+74 more
Copy number loss
not provided
GPathogenic
GTF2A1, GZMB
+624 more
Copy number gain
See cases
GPathogenic
ABCD4, ACOT1
+261 more
Copy number gain
See cases
GPathogenic
ABCD4, ABHD12B
+635 more
Copy number gain
See cases
GPathogenic
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