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Links from MedGen

Items: 53

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
MPZ
(G72E)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease dominant intermediate D
GUncertain significance
MPZ
(S25fs)
Indel
(frameshift variant)
Charcot-Marie-Tooth disease dominant intermediate D
GLikely pathogenic
MPZ
(G155R)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease, type I
+4 more
GUncertain significance
MPZ
(V38F)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease dominant intermediate D
GUncertain significance
MPZ
(L251V)
Single nucleotide variant
(3 prime UTR variant +1 more)
Charcot-Marie-Tooth disease dominant intermediate D
GUncertain significance
MPZ
(G43S)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease dominant intermediate D
GUncertain significance
MPZ
(D35H)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease dominant intermediate D
GUncertain significance
MPZ
Single nucleotide variant
(3 prime UTR variant)
Charcot-Marie-Tooth disease type 1B
+4 more
GConflicting classifications of pathogenicity
MPZ
Single nucleotide variant
(3 prime UTR variant)
Neuropathy, congenital hypomyelinating, 2
+3 more
GUncertain significance
MPZ
Single nucleotide variant
(3 prime UTR variant)
Charcot-Marie-Tooth disease type 1B
+3 more
GUncertain significance
MPZ
Single nucleotide variant
(3 prime UTR variant)
Neuropathy, congenital hypomyelinating, 2
+3 more
GUncertain significance
MPZ
(I62V)
Single nucleotide variant
(missense variant)
Neuropathy, congenital hypomyelinating, 2
+3 more
GUncertain significance
MPZ
Single nucleotide variant
(3 prime UTR variant)
Neuropathy, congenital hypomyelinating, 2
+3 more
GUncertain significance
MPZ
Single nucleotide variant
(3 prime UTR variant)
Charcot-Marie-Tooth disease type 1B
+3 more
GUncertain significance
MPZ
Single nucleotide variant
(3 prime UTR variant +1 more)
Roussy-Lévy syndrome
+3 more
GUncertain significance
MPZ
Single nucleotide variant
(3 prime UTR variant)
Charcot-Marie-Tooth disease type 1B
+3 more
GUncertain significance
MPZ
(E148D)
Single nucleotide variant
(missense variant)
Roussy-Lévy syndrome
+3 more
GUncertain significance
MPZ
(H81L)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease, type I
+1 more
GUncertain significance
MPZ
(R227S)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease dominant intermediate D
+2 more
GPathogenic/Likely pathogenic
MPZ, SDHC
(S20F)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease, type I
+2 more
GUncertain significance
MPZ
(P133L)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease dominant intermediate D
GLikely pathogenic
MPZ
(Y82C)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease
+2 more
GPathogenic/Likely pathogenic
MPZ
(T143M)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+6 more
GUncertain significance
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
Single nucleotide variant
(5 prime UTR variant)
not specified
+5 more
GConflicting classifications of pathogenicity
MPZ
(P26L)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease, type I
+6 more
GConflicting classifications of pathogenicity
MPZ
Single nucleotide variant
(synonymous variant)
not provided
+8 more
GBenign/Likely benign
MPZ
(G267S)
Single nucleotide variant
(3 prime UTR variant +1 more)
Neuropathy, congenital hypomyelinating, 2
+4 more
GConflicting classifications of pathogenicity
MPZ
Single nucleotide variant
(3 prime UTR variant)
not provided
+6 more
GConflicting classifications of pathogenicity
MPZ
Single nucleotide variant
(3 prime UTR variant)
Neuropathy, congenital hypomyelinating, 2
+4 more
GUncertain significance
MPZ
Single nucleotide variant
(3 prime UTR variant)
Charcot-Marie-Tooth disease type 1B
+5 more
GBenign/Likely benign
MPZ
Single nucleotide variant
(3 prime UTR variant)
not provided
+5 more
GBenign/Likely benign
MPZ
Single nucleotide variant
(3 prime UTR variant)
Neuropathy, congenital hypomyelinating, 2
+4 more
GUncertain significance
MPZ
Single nucleotide variant
(3 prime UTR variant)
Roussy-Lévy syndrome
+4 more
GConflicting classifications of pathogenicity
MPZ
Single nucleotide variant
(3 prime UTR variant)
Neuropathy, congenital hypomyelinating, 2
+5 more
GBenign
MPZ
Single nucleotide variant
(3 prime UTR variant)
Neuropathy, congenital hypomyelinating, 2
+4 more
GUncertain significance
MPZ
Single nucleotide variant
(3 prime UTR variant)
Neuropathy, congenital hypomyelinating, 2
+4 more
GUncertain significance
MPZ
Single nucleotide variant
(3 prime UTR variant)
Charcot-Marie-Tooth disease dominant intermediate D
+5 more
GConflicting classifications of pathogenicity
MPZ
Single nucleotide variant
(3 prime UTR variant)
Roussy-Lévy syndrome
+4 more
GUncertain significance
MPZ
(G213R)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease, type I
+9 more
GConflicting classifications of pathogenicity
MPZ
(R45W)
Single nucleotide variant
(missense variant)
Dejerine-Sottas disease
+10 more
GConflicting classifications of pathogenicity
MPZ
(R67H)
Single nucleotide variant
(missense variant)
not provided
+8 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
Single nucleotide variant
(synonymous variant)
Charcot-Marie-Tooth disease, type I
+8 more
GBenign/Likely benign
MPZ
(D104fs)
Deletion
(frameshift variant)
Charcot-Marie-Tooth disease, type I
+1 more
GPathogenic/Likely pathogenic
MPZ
(Y82H)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease dominant intermediate D
+4 more
GPathogenic/Likely pathogenic
MPZ
(Y145S)
Single nucleotide variant
(missense variant)
MPZ-related disorder
+9 more
GPathogenic
MPZ
(D35Y)
Single nucleotide variant
(missense variant)
not provided
+2 more
GPathogenic/Likely pathogenic
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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