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Links from MedGen

Items: 21

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
MPZ
(K199N)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 2I
GUncertain significance
MPZ
(G155R)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease, type I
+4 more
GUncertain significance
MPZ
(D104E)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 2I
+3 more
GUncertain significance
MPZ, SDHC
(S20F)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease, type I
+2 more
GUncertain significance
MPZ
(Y145fs)
Deletion
(frameshift variant)
not provided
+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
(D35N)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 2I
+2 more
GPathogenic
MPZ
(K236del)
Microsatellite
(inframe_deletion)
Charcot-Marie-Tooth disease type 2I
+4 more
GConflicting classifications of pathogenicity
MPZ
(R45W)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 2I
+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
(N116S)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+3 more
GUncertain significance
MPZ
(Y82H)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 2I
+4 more
GPathogenic/Likely pathogenic
MPZ
(I62M)
Single nucleotide variant
(missense variant)
not provided
+3 more
GConflicting classifications of pathogenicity
MPZ
(D60H)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease, type I
+1 more
GConflicting classifications of pathogenicity
MPZ
(Y145S)
Single nucleotide variant
(missense variant)
MPZ-related disorder
+9 more
GPathogenic
MPZ
(S44F)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+3 more
GPathogenic
MPZ
(V92M +2 more)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 2I
GPathogenic
MPZ
(T124M)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+9 more
GPathogenic
MPZ
(G167R)
Single nucleotide variant
(missense variant)
Roussy-Lévy syndrome
+7 more
GPathogenic
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