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Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PRX
(R1070*)
Single nucleotide variant
(3 prime UTR variant +1 more)
Charcot-Marie-Tooth disease type 4
+2 more
GPathogenic/Likely pathogenic
PRX
(C715*)
Single nucleotide variant
(3 prime UTR variant +1 more)
Inborn genetic diseases
+4 more
GPathogenic/Likely pathogenic
PRX
(A700fs)
Deletion
(3 prime UTR variant +1 more)
Charcot-Marie-Tooth disease
GUncertain significance
PRX
(D651N)
Single nucleotide variant
(3 prime UTR variant +1 more)
Inborn genetic diseases
+1 more
GUncertain significance
PRX
(L83fs)
Deletion
(frameshift variant)
Dejerine-Sottas disease
+1 more
GConflicting classifications of pathogenicity
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