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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC126862060, DYNC1H1
(R2977W)
Single nucleotide variant
(missense variant)
Intellectual disability, autosomal dominant 13
GUncertain significance
DYNC1H1
(S3672L)
Single nucleotide variant
(missense variant)
Intellectual disability, autosomal dominant 13
+2 more
GConflicting classifications of pathogenicity