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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
EGR2
(P227S +1 more)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease, type I
+1 more
GUncertain significance
EGR2
(M222T +1 more)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease, type I
+2 more
GConflicting classifications of pathogenicity
EGR2
Single nucleotide variant
(no sequence alteration)
Charcot-Marie-Tooth disease type 4E
+4 more
GBenign
EGR2
(P148S +1 more)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease, type I
+2 more
GUncertain significance
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