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Items: 11

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
EGR2
(G451V +1 more)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease, type I
+3 more
GBenign/Likely benign
EGR2
(E412G +1 more)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease, type I
GPathogenic
EGR2
(T387N +1 more)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease, type I
GUncertain significance
EGR2
(D383H +1 more)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 1D
+1 more
GUncertain significance
EGR2
(R381H +1 more)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease, type I
+2 more
GPathogenic
EGR2
(R381C +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic
EGR2
Single nucleotide variant
(synonymous variant)
Charcot-Marie-Tooth disease, type I
+4 more
GBenign
EGR2
(R359Q +1 more)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease, type I
GPathogenic
EGR2
(R359W +1 more)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease, type I
+2 more
GPathogenic
EGR2
(D355V +1 more)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 1D
+1 more
GUncertain significance
EGR2
(R353G +1 more)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 1D
+1 more
GUncertain significance
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