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Links from MedGen

Items: 27

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
IKZF1
(L159R +11 more)
Single nucleotide variant
(missense variant)
Pancytopenia due to IKZF1 mutations
GUncertain significance
IKZF1
(D109H +11 more)
Single nucleotide variant
(missense variant)
Pancytopenia due to IKZF1 mutations
GUncertain significance
IKZF1
(L196fs +10 more)
Duplication
(frameshift variant)
Pancytopenia due to IKZF1 mutations
GLikely pathogenic
IKZF1
Single nucleotide variant
(splice donor variant +1 more)
Pancytopenia due to IKZF1 mutations
GUncertain significance
IKZF1
(H167Y +2 more)
Single nucleotide variant
(missense variant +1 more)
Pancytopenia due to IKZF1 mutations
+1 more
GConflicting classifications of pathogenicity
IKZF1
Single nucleotide variant
(synonymous variant +1 more)
not provided
+1 more
GUncertain significance
IKZF1
(P129L +10 more)
Single nucleotide variant
(missense variant)
Pancytopenia due to IKZF1 mutations
GUncertain significance
IKZF1
(Q119H +10 more)
Single nucleotide variant
(missense variant)
Pancytopenia due to IKZF1 mutations
+1 more
GUncertain significance
IKZF1
(R164G)
Single nucleotide variant
(missense variant +1 more)
Pancytopenia due to IKZF1 mutations
+1 more
GBenign
IKZF1
(L177P +1 more)
Single nucleotide variant
(missense variant +1 more)
Acute lymphoid leukemia
+1 more
GLikely pathogenic
IKZF1
Single nucleotide variant
(synonymous variant)
not specified
+2 more
GBenign
IKZF1
Single nucleotide variant
(intron variant)
Pancytopenia due to IKZF1 mutations
GUncertain significance
IKZF1
Single nucleotide variant
(intron variant)
Pancytopenia due to IKZF1 mutations
GUncertain significance
IKZF1
(R183H +1 more)
Single nucleotide variant
(missense variant +1 more)
Pancytopenia due to IKZF1 mutations
+1 more
GConflicting classifications of pathogenicity
IKZF1
(N159S +1 more)
Single nucleotide variant
(missense variant +1 more)
Inherited Immunodeficiency Diseases
+1 more
GPathogenic
IKZF1
Single nucleotide variant
(synonymous variant +1 more)
Pancytopenia due to IKZF1 mutations
+1 more
GBenign
IKZF1
(C182* +1 more)
Single nucleotide variant
(nonsense +1 more)
Pancytopenia due to IKZF1 mutations
GPathogenic
IKZF1
(D22N)
Single nucleotide variant
(missense variant)
Pancytopenia due to IKZF1 mutations
+1 more
GConflicting classifications of pathogenicity
IKZF1
(A272T +5 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GConflicting classifications of pathogenicity
IKZF1
(H108R +1 more)
Single nucleotide variant
(missense variant +1 more)
Pancytopenia due to IKZF1 mutations
GPathogenic
IKZF1
Single nucleotide variant
(synonymous variant +1 more)
Pancytopenia due to IKZF1 mutations
+1 more
GConflicting classifications of pathogenicity
IKZF1
Deletion
Pancytopenia due to IKZF1 mutations
GPathogenic
IKZF1
(R184Q +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
IKZF1
(H167R +1 more)
Single nucleotide variant
(missense variant +1 more)
Inherited Immunodeficiency Diseases
GPathogenic
IKZF1
(R162Q +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GPathogenic
IKZF1
(R162L +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GConflicting classifications of pathogenicity
IKZF1
(Y210C +2 more)
Single nucleotide variant
(missense variant +1 more)
Pancytopenia due to IKZF1 mutations
GPathogenic
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