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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
DYNC2H1
(S2128fs)
Duplication
(frameshift variant)
Asphyxiating thoracic dystrophy 3
GLikely pathogenic
DYNC2H1
Single nucleotide variant
(intron variant)
Asphyxiating thoracic dystrophy 3
GLikely pathogenic