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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ZAP70
(E171G)
Single nucleotide variant
(missense variant)
ZAP70-Related Severe Combined Immunodeficiency
+2 more
GBenign/Likely benign
ZAP70
Single nucleotide variant
(synonymous variant)
Autoimmune disease, multisystem, infantile-onset, 2
+2 more
GBenign/Likely benign
ZAP70
(L23F +1 more)
Single nucleotide variant
(missense variant)
Combined immunodeficiency due to ZAP70 deficiency
+4 more
GUncertain significance
ZAP70
(M549V +1 more)
Single nucleotide variant
(missense variant)
Autoimmune disease, multisystem, infantile-onset, 2
+4 more
GUncertain significance
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