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Links from MedGen

Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
IKZF3, LOC130060781
(M43L +1 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
IKZF3
(P107S +12 more)
Single nucleotide variant
(missense variant)
Immunodeficiency 84
GUncertain significance
IKZF3
(Q123R +2 more)
Single nucleotide variant
(missense variant +2 more)
Immunodeficiency 84
GUncertain significance
IKZF3
(G159R +2 more)
Single nucleotide variant
(missense variant +2 more)
Immunodeficiency 84
GPathogenic
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