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Items: 18

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ABCD4, ABHD12B
+3281 more
Copy number gain
See cases
GPathogenic
ABCD4, ABHD12B
+3276 more
Copy number gain
See cases
GPathogenic
LOC132090296, LOC132090297
+1422 more
Copy number gain
See cases
GPathogenic
LOC130056647, LOC130056648
+1203 more
Copy number gain
See cases
GPathogenic
LOC130056481, LOC130056482
+1072 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
LOC130056535, LOC130056536
+671 more
Copy number gain
See cases
GPathogenic
LOC130056672, LOC130056673
+667 more
Copy number loss
See cases
GPathogenic
LOC130056604, LOC130056605
+654 more
Copy number gain
See cases
GPathogenic
ADSS1, AHNAK2
+632 more
Copy number loss
See cases
GPathogenic
BEGAIN, CINP
+215 more
Copy number loss
See cases
GPathogenic
MIR493, MIR494
+530 more
Copy number gain
See cases
GPathogenic
ADSS1, AHNAK2
+582 more
Copy number loss
See cases
GPathogenic
LOC130056480, LOC130056481
+571 more
Copy number loss
See cases
GPathogenic
MIR299, MIR300
+106 more
Deletion
Paternal uniparental disomy of chromosome 14
GPathogenic
IGHV1-46, IGHV1-58
+561 more
Copy number loss
See cases
GPathogenic
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