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Items: 8

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ZAP70
(P80Q)
Single nucleotide variant
(missense variant)
ZAP70-Related Severe Combined Immunodeficiency
GUncertain significance
ZAP70
(R192W)
Single nucleotide variant
(missense variant)
Combined immunodeficiency
+1 more
GConflicting classifications of pathogenicity
ZAP70
Single nucleotide variant
(5 prime UTR variant +1 more)
Combined immunodeficiency due to ZAP70 deficiency
Gnot provided
ZAP70
Single nucleotide variant
(synonymous variant)
ZAP70-Related Severe Combined Immunodeficiency
GLikely pathogenic
ZAP70
(R360P +1 more)
Single nucleotide variant
(missense variant)
Combined immunodeficiency
GPathogenic
ZAP70
(R465C +1 more)
Single nucleotide variant
(missense variant)
Combined immunodeficiency due to ZAP70 deficiency
Gnot provided
ZAP70
Single nucleotide variant
(intron variant)
not provided
+2 more
GPathogenic
ZAP70
(M572L +1 more)
Single nucleotide variant
(missense variant)
Combined immunodeficiency due to ZAP70 deficiency
Gnot provided
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