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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ASCC1
(I265V +5 more)
Single nucleotide variant
(missense variant +2 more)
not provided
GUncertain significance
ASCC1
(R216* +5 more)
Single nucleotide variant
(nonsense +1 more)
not provided
GLikely pathogenic
ASCC1
(L26V +1 more)
Single nucleotide variant
(missense variant +2 more)
not provided
GUncertain significance
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