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Items: 36

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PRX
(A1456S)
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
+1 more
GUncertain significance
PRX
(S1407A)
Single nucleotide variant
(3 prime UTR variant +1 more)
not specified
+5 more
GUncertain significance
PRX
(V1403I)
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
+1 more
GUncertain significance
PRX
(R1377C)
Single nucleotide variant
(3 prime UTR variant +1 more)
Charcot-Marie-Tooth disease type 4
+2 more
GUncertain significance
PRX
(A1316V)
Single nucleotide variant
(3 prime UTR variant +1 more)
Charcot-Marie-Tooth disease type 4
+4 more
GConflicting classifications of pathogenicity
PRX
(G1296R)
Single nucleotide variant
(3 prime UTR variant +1 more)
Charcot-Marie-Tooth disease type 4
+2 more
GUncertain significance
PRX
(G1257R)
Single nucleotide variant
(3 prime UTR variant +1 more)
Charcot-Marie-Tooth disease type 4
+4 more
GUncertain significance
PRX
(E1235D +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
PRX
(P1219L)
Single nucleotide variant
(3 prime UTR variant +1 more)
Charcot-Marie-Tooth disease
+3 more
GUncertain significance
PRX
(P1166S)
Single nucleotide variant
(3 prime UTR variant +1 more)
Inborn genetic diseases
+5 more
GConflicting classifications of pathogenicity
PRX
(G1125S)
Single nucleotide variant
(3 prime UTR variant +1 more)
Charcot-Marie-Tooth disease type 4
+6 more
GConflicting classifications of pathogenicity
PRX
(S1089F +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
PRX
(R1070Q)
Single nucleotide variant
(3 prime UTR variant +1 more)
Charcot-Marie-Tooth disease type 4F
+4 more
GUncertain significance
PRX
(K1062N)
Single nucleotide variant
(3 prime UTR variant +1 more)
Charcot-Marie-Tooth disease type 4
+6 more
GConflicting classifications of pathogenicity
PRX
(K1006fs)
Insertion
(3 prime UTR variant +1 more)
Charcot-Marie-Tooth disease type 4
+1 more
GPathogenic/Likely pathogenic
PRX
(R970Q)
Single nucleotide variant
(3 prime UTR variant +1 more)
Charcot-Marie-Tooth disease type 4F
+3 more
GUncertain significance
PRX
(S939L)
Single nucleotide variant
(3 prime UTR variant +1 more)
Charcot-Marie-Tooth disease type 4
+2 more
GUncertain significance
PRX
(V986G +1 more)
Single nucleotide variant
(missense variant +1 more)
Charcot-Marie-Tooth disease type 4
+1 more
GUncertain significance
PRX
(P850A)
Single nucleotide variant
(3 prime UTR variant +1 more)
Charcot-Marie-Tooth disease type 4
+5 more
GConflicting classifications of pathogenicity
PRX
(E752K)
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
+5 more
GConflicting classifications of pathogenicity
PRX
Deletion
(inframe_deletion +1 more)
not provided
+2 more
GUncertain significance
PRX
(V613M)
Single nucleotide variant
(3 prime UTR variant +1 more)
Charcot-Marie-Tooth disease type 4
+1 more
GUncertain significance
PRX
(V525A)
Single nucleotide variant
(3 prime UTR variant +1 more)
Charcot-Marie-Tooth disease type 4
+5 more
GConflicting classifications of pathogenicity
PRX
(P497L)
Single nucleotide variant
(3 prime UTR variant +1 more)
Charcot-Marie-Tooth disease type 4
+2 more
GUncertain significance
PRX
(E493D)
Single nucleotide variant
(3 prime UTR variant +1 more)
Inborn genetic diseases
+2 more
GUncertain significance
PRX
(R390S)
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
GUncertain significance
PRX
(E374Q +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
PRX
(R368*)
Single nucleotide variant
(3 prime UTR variant +1 more)
Peripheral neuropathy
+4 more
GPathogenic/Likely pathogenic
PRX
(L275I)
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
+6 more
GConflicting classifications of pathogenicity
PRX
(G243R)
Single nucleotide variant
(3 prime UTR variant +1 more)
Inborn genetic diseases
+2 more
GUncertain significance
PRX
(R240W)
Single nucleotide variant
(3 prime UTR variant +1 more)
Charcot-Marie-Tooth disease type 4
+4 more
GUncertain significance
PRX
(R228G)
Single nucleotide variant
(3 prime UTR variant +1 more)
Charcot-Marie-Tooth disease type 4
+3 more
GUncertain significance
PRX, LOC130064454
(A35E)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 4
+2 more
GUncertain significance
LOC130064454, PRX
(T27N)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 4F
+3 more
GUncertain significance
PRX
(R6G)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 4
+2 more
GUncertain significance
PRX
(S5G)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 4
+2 more
GUncertain significance
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