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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ASCC3
(R1689C)
Single nucleotide variant
(missense variant)
ASCC3-related disorder
GUncertain significance
ASCC3
(L1034*)
Single nucleotide variant
(nonsense)
ASCC3-related disorder
GLikely pathogenic