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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
DYNC1H1
(R379H)
Single nucleotide variant
(missense variant)
Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures
GUncertain significance
DYNC1H1
(D1293H)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease axonal type 2O
GUncertain significance