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Links from MedGen

Items: 47

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
EGR2
(S125Y +2 more)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 1D
GUncertain significance
EGR2
(P347H +2 more)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 1D
+1 more
GConflicting classifications of pathogenicity
EGR2
Single nucleotide variant
(3 prime UTR variant)
Charcot-Marie-Tooth disease type 1D
GUncertain significance
EGR2
Single nucleotide variant
(3 prime UTR variant)
Charcot-Marie-Tooth disease type 1D
GUncertain significance
EGR2
Single nucleotide variant
(3 prime UTR variant)
Charcot-Marie-Tooth disease type 1D
GUncertain significance
EGR2
Single nucleotide variant
(3 prime UTR variant)
Charcot-Marie-Tooth disease type 1D
GUncertain significance
EGR2
Single nucleotide variant
(5 prime UTR variant +1 more)
Charcot-Marie-Tooth disease type 1D
GUncertain significance
EGR2
Single nucleotide variant
(5 prime UTR variant +1 more)
Charcot-Marie-Tooth disease type 1D
GUncertain significance
EGR2
(P127L +1 more)
Single nucleotide variant
(missense variant)
Dejerine-Sottas disease
+1 more
GUncertain significance
EGR2
(R381C +1 more)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease, type I
+1 more
GPathogenic
EGR2
(R353G +1 more)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 1D
+1 more
GUncertain significance
EGR2
(D383H +1 more)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease
+1 more
GUncertain significance
EGR2
(D355V +1 more)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease
+1 more
GUncertain significance
EGR2
(R362* +1 more)
Single nucleotide variant
(nonsense)
Charcot-Marie-Tooth disease type 4E
+2 more
GUncertain significance
EGR2
(T153P +1 more)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 1D
+3 more
GConflicting classifications of pathogenicity
EGR2
(E412G +1 more)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease, type I
GPathogenic
EGR2
Single nucleotide variant
(5 prime UTR variant +1 more)
Charcot-Marie-Tooth disease
+1 more
GLikely benign
EGR2
Single nucleotide variant
(intron variant)
Charcot-Marie-Tooth disease type 1D
+2 more
GBenign
EGR2
Single nucleotide variant
(synonymous variant)
Charcot-Marie-Tooth disease, type I
+4 more
GBenign/Likely benign
EGR2
(L181F +1 more)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 1D
GUncertain significance
EGR2
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
+2 more
GConflicting classifications of pathogenicity
EGR2
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
+2 more
GConflicting classifications of pathogenicity
EGR2
(C454G +1 more)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 1D
GUncertain significance
EGR2
Single nucleotide variant
(3 prime UTR variant)
Charcot-Marie-Tooth disease type 1D
GUncertain significance
EGR2
Single nucleotide variant
(3 prime UTR variant)
not provided
+1 more
GBenign
EGR2
Single nucleotide variant
(3 prime UTR variant)
not provided
+1 more
GBenign/Likely benign
EGR2
Single nucleotide variant
(3 prime UTR variant)
Charcot-Marie-Tooth disease type 1D
GBenign
EGR2
Single nucleotide variant
(3 prime UTR variant)
Charcot-Marie-Tooth disease type 1D
GUncertain significance
EGR2
Single nucleotide variant
(3 prime UTR variant)
Charcot-Marie-Tooth disease type 1D
GUncertain significance
EGR2
Single nucleotide variant
(3 prime UTR variant)
Charcot-Marie-Tooth disease type 1D
GUncertain significance
EGR2
Single nucleotide variant
(3 prime UTR variant)
Charcot-Marie-Tooth disease type 1D
GBenign
EGR2
Single nucleotide variant
(3 prime UTR variant)
Charcot-Marie-Tooth disease type 1D
GUncertain significance
EGR2
Single nucleotide variant
(no sequence alteration)
Charcot-Marie-Tooth disease type 4E
+4 more
GBenign
EGR2
Single nucleotide variant
(synonymous variant)
Charcot-Marie-Tooth disease, type I
+4 more
GBenign
EGR2
(M64I +1 more)
Single nucleotide variant
(missense variant)
not specified
+4 more
GConflicting classifications of pathogenicity
EGR2
Single nucleotide variant
(synonymous variant)
not specified
+3 more
GBenign/Likely benign
EGR2
(T215M +1 more)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 1D
+4 more
GConflicting classifications of pathogenicity
EGR2
(G451V +1 more)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 1D
+3 more
GBenign/Likely benign
EGR2
(T387N +1 more)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease, type I
GUncertain significance
EGR2
(R381H +1 more)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease, type I
+2 more
GPathogenic
EGR2
(R359Q +1 more)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease, type I
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
(R359W +1 more)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease, type I
+2 more
GPathogenic
EGR2
(S382R +3 more)
Single nucleotide variant
(missense variant)
Congenital hypomyelinating neuropathy 1, autosomal dominant
GPathogenic
EGR2
(R409W +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic
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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