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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
DYNC2H1
(C357R)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
DYNC2H1
(Q2944R)
Single nucleotide variant
(missense variant)
Jeune thoracic dystrophy
+2 more
GConflicting classifications of pathogenicity
DYNC2H1
(P3736S +1 more)
Single nucleotide variant
(missense variant)
not provided
+3 more
GConflicting classifications of pathogenicity
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