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Items: 36

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ASXL2
Single nucleotide variant
(stop lost)
not provided
GUncertain significance
ASXL2
(D1160G +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ASXL2
(K1151I +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ASXL2
(C1410G +2 more)
Single nucleotide variant
(missense variant)
not provided
GLikely pathogenic
ASXL2
(Q1010* +2 more)
Single nucleotide variant
(nonsense)
not provided
GUncertain significance
ASXL2
(E1234A +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ASXL2
(S1096R +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ASXL2
(P1060R +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ASXL2
(T1004A +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ASXL2
(Q1037H +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ASXL2
(P1035L +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ASXL2
(T635I +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ASXL2
Deletion
(nonsense)
not provided
GPathogenic
ASXL2
(C529R +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ASXL2
(E470D +2 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
ASXL2
(Q448H +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ASXL2
(G436V +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ASXL2
(G427E +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ASXL2
(V426I +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ASXL2
(A422V +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ASXL2
(S367fs +2 more)
Duplication
(frameshift variant)
not provided
GConflicting classifications of pathogenicity
ASXL2
(P325S +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ASXL2
(I220V +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ASXL2
(L214P +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ASXL2
(S198del +2 more)
Deletion
not provided
GUncertain significance
ASXL2
(W109R +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ASXL2
(E103V +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ASXL2
(R297K +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ABHD1, ADGRF3
+99 more
Copy number gain
See cases
GUncertain significance
ASXL2
(T200N +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
ASXL2
(G188V +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
ASXL2
(S127N +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
ASXL2
(Q105H +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ASXL2
(E301G +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ASXL2
(S1071C +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ASXL2
(A107S +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
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