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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
AMBN
Single nucleotide variant
(splice donor variant)
Amelogenesis imperfecta type 1F
GUncertain significance
AMBN
(S70*)
Single nucleotide variant
(nonsense)
Amelogenesis imperfecta type 1F
+1 more
GUncertain significance
AMBN
Single nucleotide variant
(splice acceptor variant)
not provided
+1 more
GConflicting classifications of pathogenicity
AMBN
(G193*)
Single nucleotide variant
(nonsense)
Amelogenesis imperfecta type 1F
GUncertain significance
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