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Items: 26

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
MPZ
(D224Y)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GPathogenic/Likely pathogenic
MPZ
(P217S)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease
GUncertain significance
MPZ
Single nucleotide variant
(splice donor variant)
Charcot-Marie-Tooth disease
GUncertain significance
MPZ
(M197fs)
Duplication
(frameshift variant)
Charcot-Marie-Tooth disease type 1B
Gnot provided
MPZ
(G167R)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease, type I
GPathogenic
MPZ
(G167R)
Single nucleotide variant
(missense variant)
Roussy-Lévy syndrome
+7 more
GPathogenic
MPZ
(G163R)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease, type I
GPathogenic
MPZ
(G163R)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GPathogenic/Likely pathogenic
MPZ
(N131K)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease, type I
+1 more
GPathogenic
MPZ
(K130R)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease, type I
+2 more
GConflicting classifications of pathogenicity
MPZ
(T124M)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+9 more
GPathogenic
MPZ
(N116S)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+3 more
GUncertain significance
MPZ
(V113F)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease, type I
+1 more
GUncertain significance
MPZ
(D104fs)
Deletion
(frameshift variant)
Charcot-Marie-Tooth disease, type I
+1 more
GPathogenic/Likely pathogenic
MPZ
(I89T)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 1B
Gnot provided
MPZ
(Y82H)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease, type I
+4 more
GPathogenic/Likely pathogenic
MPZ
(H81R)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease, type I
+1 more
GPathogenic
MPZ
(H81Y +1 more)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 1B
GPathogenic
MPZ
(H81Y)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease, type I
GLikely pathogenic
MPZ
(D75V)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease, type I
GPathogenic
MPZ
(D61N)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease, type I
+1 more
GPathogenic
MPZ
(S59T)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 1B
Gnot provided
MPZ
(S55I)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease
GUncertain significance
MPZ
(S44F)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease
+3 more
GPathogenic
MPZ
(I30T)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease, type I
GLikely pathogenic
MPZ
Protein only
Charcot-Marie-Tooth disease type 1B
GPathogenic
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