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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
DYNC2H1
Single nucleotide variant
(intron variant)
Asphyxiating thoracic dystrophy 3
GUncertain significance
DYNC2H1
(I3828R +1 more)
Single nucleotide variant
(missense variant)
Asphyxiating thoracic dystrophy 3
GUncertain significance