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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
AMPD3
(N286S +3 more)
Single nucleotide variant
(missense variant)
Erythrocyte AMP deaminase deficiency
GUncertain significance
AMPD3
(G368S +3 more)
Single nucleotide variant
(missense variant)
Erythrocyte AMP deaminase deficiency
+1 more
GBenign/Likely benign
AMPD3
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GBenign/Likely benign
AMPD3
(Y455H +3 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GBenign/Likely benign
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