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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
IL21R
(S92L +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GUncertain significance
IL21R-AS1, LOC130058712
+1 more
(G367S +1 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
+3 more
GConflicting classifications of pathogenicity
IL21R, IL21R-AS1
(G429A +1 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
Cryptosporidiosis-chronic cholangitis-liver disease syndrome
GUncertain significance
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