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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
DYNC1H1
Single nucleotide variant
(intron variant)
Charcot-Marie-Tooth disease axonal type 2O
+3 more
GConflicting classifications of pathogenicity
DYNC1H1
(D1991N)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease axonal type 2O
+3 more
GConflicting classifications of pathogenicity
DYNC1H1
(G4472S)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease axonal type 2O
+2 more
GConflicting classifications of pathogenicity
DYNC1H1
(V4593I)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GUncertain significance
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