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Links from MedGen

Items: 16

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
MPZ
Deletion
(nonsense)
Charcot-Marie-Tooth disease type 2J
GPathogenic
MPZ
(G155R)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease, type I
+4 more
GUncertain significance
MPZ
(P133R)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease, type I
+1 more
GLikely pathogenic
MPZ
(Y145fs)
Deletion
(frameshift variant)
Inborn genetic diseases
+3 more
GPathogenic/Likely pathogenic
MPZ
(A221V)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease, type I
GUncertain significance
MPZ
(P133T)
Single nucleotide variant
(missense variant)
Roussy-Lévy syndrome
+7 more
GPathogenic/Likely pathogenic
MPZ
(K236del)
Microsatellite
(inframe_deletion)
Charcot-Marie-Tooth disease type 2I
+4 more
GConflicting classifications of pathogenicity
MPZ
(R45W)
Single nucleotide variant
(missense variant)
Dejerine-Sottas disease
+10 more
GConflicting classifications of pathogenicity
MPZ
(P151T)
Single nucleotide variant
(missense variant)
not provided
+8 more
GConflicting classifications of pathogenicity
MPZ
Single nucleotide variant
(synonymous variant)
Charcot-Marie-Tooth disease type 1B
+8 more
GBenign
MPZ
(P105T)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease, type I
+1 more
GConflicting classifications of pathogenicity
MPZ
(E97V)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease, type I
GUncertain significance
MPZ
(Y145S)
Single nucleotide variant
(missense variant)
MPZ-related disorder
+9 more
GPathogenic
MPZ
(D75V)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease, type I
GPathogenic
MPZ
(T124M)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 4E
+9 more
GPathogenic
MPZ
(G167R)
Single nucleotide variant
(missense variant)
Roussy-Lévy syndrome
+7 more
GPathogenic
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