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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ASMT
(N17K)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ASMT
Single nucleotide variant
(splice donor variant)
not provided
GConflicting classifications of pathogenicity
ASMT
(Y201* +1 more)
Single nucleotide variant
(nonsense +1 more)
not provided
GUncertain significance
ASMT
(F191V +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
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