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Links from Gene

Items: 1 to 100 of 423

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
EGR2
(G225V +2 more)
Single nucleotide variant
(missense variant)
EGR2-related condition
GUncertain significance
LOC124403968, LOC124403969
+220 more
Deletion
Intellectual developmental disorder, autosomal dominant 70
GLikely pathogenic
EGR2
Single nucleotide variant
(synonymous variant)
Charcot-Marie-Tooth disease, type I
GLikely benign
EGR2
Microsatellite
(inframe_deletion)
Charcot-Marie-Tooth disease, type I
GUncertain significance
EGR2
(A255T +2 more)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease, type I
GUncertain significance
EGR2
Single nucleotide variant
(stop lost)
Charcot-Marie-Tooth disease, type I
GUncertain significance
EGR2
(G3* +2 more)
Single nucleotide variant
(nonsense)
Charcot-Marie-Tooth disease, type I
GUncertain significance
EGR2
(S133L +2 more)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease, type I
GUncertain significance
EGR2
Microsatellite
(inframe_deletion)
Charcot-Marie-Tooth disease, type I
GUncertain significance
EGR2
(P292S +2 more)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease, type I
GUncertain significance
EGR2
(A259P +2 more)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease, type I
GUncertain significance
EGR2
Single nucleotide variant
(intron variant)
Charcot-Marie-Tooth disease, type I
GLikely benign
EGR2
Single nucleotide variant
(synonymous variant)
Charcot-Marie-Tooth disease, type I
GLikely benign
EGR2
Single nucleotide variant
(synonymous variant)
Charcot-Marie-Tooth disease, type I
GLikely benign
EGR2
(G192R +2 more)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease, type I
GUncertain significance
EGR2
Single nucleotide variant
(synonymous variant)
Charcot-Marie-Tooth disease, type I
GLikely benign
EGR2
(I48V +2 more)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease, type I
GUncertain significance
EGR2
Single nucleotide variant
(synonymous variant)
Charcot-Marie-Tooth disease, type I
GLikely benign
EGR2
(Y310C +2 more)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease, type I
GUncertain significance
EGR2
Single nucleotide variant
(synonymous variant)
Charcot-Marie-Tooth disease, type I
GLikely benign
EGR2
Single nucleotide variant
(synonymous variant)
Charcot-Marie-Tooth disease, type I
GLikely benign
EGR2
Single nucleotide variant
(synonymous variant)
Charcot-Marie-Tooth disease, type I
GLikely benign
EGR2
(T406S +2 more)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease, type I
GUncertain significance
EGR2
(P319R +2 more)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease, type I
GUncertain significance
EGR2
Single nucleotide variant
(synonymous variant)
Charcot-Marie-Tooth disease, type I
GLikely benign
EGR2
Single nucleotide variant
(synonymous variant)
Charcot-Marie-Tooth disease, type I
GLikely benign
EGR2
(P354S +2 more)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease, type I
GUncertain significance
EGR2
(P182fs +2 more)
Deletion
(frameshift variant)
Charcot-Marie-Tooth disease, type I
GUncertain significance
EGR2
(G295R +2 more)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease, type I
GUncertain significance
EGR2
(R405Q +2 more)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease, type I
GUncertain significance
EGR2
(S420A +2 more)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease, type I
GUncertain significance
EGR2
Single nucleotide variant
(intron variant)
Charcot-Marie-Tooth disease, type I
GLikely benign
EGR2
Single nucleotide variant
(synonymous variant)
Charcot-Marie-Tooth disease, type I
GLikely benign
EGR2
Single nucleotide variant
(synonymous variant)
Charcot-Marie-Tooth disease, type I
GLikely benign
EGR2
(P27S +1 more)
Single nucleotide variant
(missense variant +1 more)
Charcot-Marie-Tooth disease, type I
GUncertain significance
EGR2
Single nucleotide variant
(synonymous variant)
Charcot-Marie-Tooth disease, type I
GLikely benign
EGR2
Single nucleotide variant
(synonymous variant)
Charcot-Marie-Tooth disease, type I
GLikely benign
EGR2
Single nucleotide variant
(synonymous variant)
Charcot-Marie-Tooth disease, type I
GLikely benign
EGR2
(R487Q +2 more)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease, type I
GUncertain significance
EGR2
(K5N)
Single nucleotide variant
(missense variant +1 more)
Charcot-Marie-Tooth disease, type I
GUncertain significance
EGR2
(T15A +2 more)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease, type I
GUncertain significance
EGR2
Single nucleotide variant
(synonymous variant)
Charcot-Marie-Tooth disease, type I
GLikely benign
EGR2
(A33V +1 more)
Single nucleotide variant
(missense variant +1 more)
Charcot-Marie-Tooth disease, type I
GUncertain significance
EGR2
Single nucleotide variant
(synonymous variant)
Charcot-Marie-Tooth disease, type I
GLikely benign
EGR2
(S469C +2 more)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease, type I
GUncertain significance
EGR2
(G132A +2 more)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease, type I
GUncertain significance
EGR2
(G240D +2 more)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease, type I
GUncertain significance
A1CF, ADO
+51 more
Copy number loss
not provided
GPathogenic
RRP12, RTKN2
+332 more
Copy number gain
not provided
GPathogenic
EGR2
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
GLikely benign
EGR2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
EGR2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
EGR2
(S382T +2 more)
Single nucleotide variant
(missense variant)
Dejerine-Sottas disease
GUncertain significance
EGR2
(S125Y +2 more)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 1D
GUncertain significance
EGR2
(L335H +2 more)
Single nucleotide variant
(missense variant)
not provided
GLikely pathogenic
MTG1, NPS
+679 more
Copy number gain
Distal trisomy 10q
GPathogenic
A1CF, ABCC2
+670 more
Copy number loss
Distal 10q deletion syndrome
GPathogenic
EGR2
(N41S +1 more)
Single nucleotide variant
(missense variant +1 more)
Charcot-Marie-Tooth disease, type I
+1 more
GUncertain significance
EGR2
(T205S +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GLikely benign
EGR2
(T486I +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
EGR2
(P122A +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
EGR2
(P347H +2 more)
Single nucleotide variant
(missense variant)
ERG2-related disorders
+1 more
GConflicting classifications of pathogenicity
EGR2
Duplication
Charcot-Marie-Tooth disease, type I
GUncertain significance
EGR2
(K364E +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
EGR2
(G136E +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
EGR2
(T217K +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
EGR2
(P119L +2 more)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease, type I
GUncertain significance
EGR2
Single nucleotide variant
(synonymous variant)
Charcot-Marie-Tooth disease, type I
GLikely benign
EGR2
Single nucleotide variant
(synonymous variant)
Charcot-Marie-Tooth disease, type I
GLikely benign
EGR2
(P172T +2 more)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease, type I
GUncertain significance
EGR2
Single nucleotide variant
(synonymous variant)
Charcot-Marie-Tooth disease, type I
GLikely benign
EGR2
(N11S +2 more)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease, type I
GUncertain significance
EGR2
(I12V +2 more)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease, type I
GUncertain significance
EGR2
Single nucleotide variant
(intron variant)
Charcot-Marie-Tooth disease, type I
GLikely benign
EGR2
Single nucleotide variant
(synonymous variant)
Charcot-Marie-Tooth disease, type I
GLikely benign
EGR2
(T358S +2 more)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease, type I
GUncertain significance
EGR2
(T107S +2 more)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease, type I
+1 more
GUncertain significance
EGR2
Single nucleotide variant
(synonymous variant)
Charcot-Marie-Tooth disease, type I
GLikely benign
EGR2
(S439F +2 more)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease, type I
GUncertain significance
EGR2
(D351E +2 more)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease, type I
GUncertain significance
EGR2
(K424fs +1 more)
Deletion
(frameshift variant)
Charcot-Marie-Tooth disease, type I
GUncertain significance
EGR2
Single nucleotide variant
(synonymous variant)
Charcot-Marie-Tooth disease, type I
GLikely benign
EGR2
Single nucleotide variant
(synonymous variant)
Charcot-Marie-Tooth disease, type I
GLikely benign
EGR2
(G117D +2 more)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease, type I
GUncertain significance
EGR2
Single nucleotide variant
(synonymous variant)
Charcot-Marie-Tooth disease, type I
GLikely benign
EGR2
Single nucleotide variant
(intron variant)
Charcot-Marie-Tooth disease, type I
GLikely benign
EGR2
Single nucleotide variant
(synonymous variant)
Charcot-Marie-Tooth disease, type I
GLikely benign
EGR2
(Y39C +1 more)
Single nucleotide variant
(missense variant +1 more)
Charcot-Marie-Tooth disease, type I
GUncertain significance
EGR2
Deletion
(inframe_indel)
Charcot-Marie-Tooth disease, type I
GUncertain significance
EGR2
(L223P +2 more)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease, type I
GUncertain significance
EGR2
(T337I +2 more)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease, type I
GUncertain significance
EGR2
(N283D +2 more)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease, type I
GUncertain significance
EGR2
(P161H +2 more)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease, type I
GUncertain significance
EGR2
(Y226N +2 more)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease, type I
GUncertain significance
EGR2
(N278S +2 more)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease, type I
GUncertain significance
EGR2
(C393Y +2 more)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease, type I
GUncertain significance
EGR2
Single nucleotide variant
(synonymous variant)
Charcot-Marie-Tooth disease, type I
GLikely benign
EGR2
Single nucleotide variant
(synonymous variant)
Charcot-Marie-Tooth disease, type I
GLikely benign
EGR2
Single nucleotide variant
(synonymous variant)
Charcot-Marie-Tooth disease, type I
GLikely benign
EGR2
Single nucleotide variant
(intron variant)
Charcot-Marie-Tooth disease, type I
GLikely benign
Display optionsSort by RelevanceDownload
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