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Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
MPZ
(G167R)
Single nucleotide variant
(missense variant)
Roussy-Lévy syndrome
+7 more
GPathogenic
MPZ
(T124M)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+9 more
GPathogenic
EGR2
(D383Y +1 more)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 1D
GUncertain significance
EGR2
(S382R +1 more)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 1D
GUncertain significance
EGR2
(I268N +1 more)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 4E
+1 more
GConflicting classifications of pathogenicity
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