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Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
DYNC1H1
(N1987S)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GLikely benign
DYNC1H1
(K2401N)
Single nucleotide variant
(missense variant)
not specified
+5 more
GConflicting classifications of pathogenicity
DYNC1H1, LOC126862060
(V3128F)
Single nucleotide variant
(missense variant)
Intellectual disability, autosomal dominant 13
GLikely benign
DYNC1H1
(P3899L)
Single nucleotide variant
(missense variant)
Intellectual disability, autosomal dominant 13
GLikely benign
DYNC1H1
(A4551T)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
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