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Items: 14

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PLD3, PRX
(E1361del)
Microsatellite
(inframe_deletion +1 more)
Charcot-Marie-Tooth disease type 4F
+5 more
GBenign
PRX
(A1316V)
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
+4 more
GConflicting classifications of pathogenicity
PRX
(G1258C)
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
+1 more
GUncertain significance
PRX
(G1125S)
Single nucleotide variant
(3 prime UTR variant +1 more)
Inborn genetic diseases
+6 more
GConflicting classifications of pathogenicity
PRX
(V1116L)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
PRX
(E1037G)
Single nucleotide variant
(3 prime UTR variant +1 more)
Charcot-Marie-Tooth disease type 4
+2 more
GConflicting classifications of pathogenicity
PRX
(G952fs)
Duplication
(3 prime UTR variant +1 more)
Inborn genetic diseases
+2 more
GPathogenic/Likely pathogenic
PRX
(K930fs)
Deletion
(3 prime UTR variant +1 more)
Charcot-Marie-Tooth disease type 4
+1 more
GPathogenic/Likely pathogenic
PRX
(E752K)
Single nucleotide variant
(3 prime UTR variant +1 more)
Inborn genetic diseases
+6 more
GConflicting classifications of pathogenicity
PRX
(M699I)
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
GUncertain significance
PRX
Single nucleotide variant
(3 prime UTR variant +1 more)
Charcot-Marie-Tooth disease
+3 more
GBenign/Likely benign
PRX
(V525A)
Single nucleotide variant
(3 prime UTR variant +1 more)
Charcot-Marie-Tooth disease type 4F
+5 more
GConflicting classifications of pathogenicity
PRX
(L275I)
Single nucleotide variant
(3 prime UTR variant +1 more)
Inborn genetic diseases
+7 more
GConflicting classifications of pathogenicity
PRX, LOC130064454
(R45G)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 4
+3 more
GBenign
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