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Items: 15

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC130008916, LOC130008917
+4836 more
Copy number gain
See cases
GPathogenic
ANKRD52, APOF
+124 more
Duplication
not specified
GUncertain significance
IL23A
(D55H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
IL23A
(D67N)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
IL23A, LOC132090128
(S106L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
IL23A, LOC132090128
+1 more
Single nucleotide variant
(synonymous variant)
not specified
GBenign
IL23A, LOC132090128
(P113A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
IL23A
(R158C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
IL23A
(R158H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
IL23A
(A177T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ANKRD52, APOF
+30 more
Copy number gain
not specified
GUncertain significance
AGAP2, ANKRD52
+105 more
Copy number gain
not provided
GPathogenic
A2M, A2ML1
+1006 more
Copy number gain
See cases
GPathogenic
DBX2, DCD
+1006 more
Copy number gain
See cases
GPathogenic
AGAP2, ARF3
+1007 more
Copy number gain
See cases
GPathogenic
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