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Items: 10

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PMP22
(R157W)
Single nucleotide variant
(missense variant +1 more)
PMP22-Related Disorders
+3 more
GConflicting classifications of pathogenicity
PMP22
(T118M)
Single nucleotide variant
(missense variant +1 more)
Charcot-Marie-Tooth disease
+5 more
GConflicting classifications of pathogenicity
PMP22
(Y97fs)
Deletion
(frameshift variant +1 more)
Charcot-Marie-Tooth disease
GUncertain significance
PMP22
(R95fs)
Duplication
(frameshift variant +1 more)
Charcot-Marie-Tooth disease
+2 more
GPathogenic/Likely pathogenic
PMP22
(A67P)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GPathogenic/Likely pathogenic
PMP22
(W39C)
Single nucleotide variant
(missense variant +1 more)
Charcot-Marie-Tooth disease
GUncertain significance
PMP22
(W28R)
Single nucleotide variant
(missense variant +1 more)
Charcot-Marie-Tooth disease, type I
GLikely pathogenic
PMP22
(S22F)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease, type IA
+1 more
GPathogenic
PMP22
(L16P)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease, type I
GPathogenic
PMP22
Duplication
Roussy-Lévy syndrome
+1 more
GPathogenic
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