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Items: 23

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC125048431, LOC125048432
+3280 more
Copy number gain
See cases
GPathogenic
FSCB, FUT8
+3275 more
Copy number gain
See cases
GPathogenic
ABCD4, ACYP1
+1421 more
Copy number gain
See cases
GPathogenic
ADCK1, ADSS1
+1202 more
Copy number gain
See cases
GPathogenic
LOC130056672, LOC130056673
+1071 more
Copy number gain
See cases
GPathogenic
ADSS1, AHNAK2
+880 more
Copy number gain
See cases
GPathogenic
ADSS1, AK7
+662 more
Copy number gain
See cases
GPathogenic
ADSS1, AHNAK2
+754 more
Copy number loss
See cases
GPathogenic
ADSS1, AHNAK2
+182 more
Copy number gain
not provided
GPathogenic
ACOT4, ACOT6
+353 more
Copy number gain
not provided
GPathogenic
PAPOLA, PAPOLA-DT
+17 more
Duplication
not provided
GUncertain significance
SNHG10, TDP1
+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
ABCD4, ABHD12B
+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
BTBD6, MIR369
+164 more
Copy number gain
not provided
GPathogenic
AK7, ASB2
+74 more
Copy number loss
not provided
GPathogenic
ABCD4, ABHD12B
+624 more
Copy number gain
See cases
GPathogenic
NUMB, OTUB2
+261 more
Copy number gain
See cases
GPathogenic
ERG28, OR11G2
+635 more
Copy number gain
See cases
GPathogenic
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