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Items: 11

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
IKZF1
(T96M)
Single nucleotide variant
(missense variant +1 more)
Acute lymphoid leukemia
GUncertain significance
IKZF1
(A138V)
Single nucleotide variant
(missense variant +1 more)
Acute lymphoid leukemia
+1 more
GConflicting classifications of pathogenicity
IKZF1
(M133T)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
IKZF1
(S115N +10 more)
Single nucleotide variant
(missense variant)
Acute lymphoid leukemia
GUncertain significance
IKZF1
(Q119H +10 more)
Single nucleotide variant
(missense variant)
Pancytopenia due to IKZF1 mutations
+1 more
GUncertain significance
IKZF1
(S163T +11 more)
Single nucleotide variant
(missense variant)
Acute lymphoid leukemia
GUncertain significance
IKZF1
(V239L +11 more)
Single nucleotide variant
(missense variant)
Acute lymphoid leukemia
GUncertain significance
NBN
(L739V +1 more)
Single nucleotide variant
(missense variant)
Microcephaly, normal intelligence and immunodeficiency
+4 more
GUncertain significance
NBN
(V210F +1 more)
Single nucleotide variant
(missense variant)
Microcephaly, normal intelligence and immunodeficiency
+6 more
GConflicting classifications of pathogenicity
NBN
(M152I +1 more)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+5 more
GConflicting classifications of pathogenicity
CDKN2A
(I49T)
Single nucleotide variant
(missense variant +1 more)
Melanoma and neural system tumor syndrome
+8 more
GConflicting classifications of pathogenicity
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