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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
A2ML1, A2ML1-AS1
(K59fs)
Duplication
(frameshift variant)
A2ML1-related condition
+2 more
GConflicting classifications of pathogenicity
A2ML1
(W619S +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+3 more
GConflicting classifications of pathogenicity
A2ML1
(F806L +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
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