U.S. flag

An official website of the United States government

Format
Items per page
Sort by
Choose Destination

Links from MedGen

Items: 60

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
MPZ
Deletion
(inframe deletion)
Roussy-Lévy syndrome
+2 more
GUncertain significance
MPZ
(L202fs)
Duplication
(frameshift variant)
Roussy-Lévy syndrome
GUncertain significance
MPZ
(N131fs)
Duplication
(frameshift variant)
Roussy-Lévy syndrome
GLikely pathogenic
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
PMP22
(L87P)
Single nucleotide variant
(missense variant +1 more)
not provided
+6 more
GUncertain significance
MPZ
(V58D)
Single nucleotide variant
(missense variant)
Roussy-Lévy syndrome
+1 more
GConflicting classifications of pathogenicity
PMP22
Single nucleotide variant
(5 prime UTR variant +1 more)
Guillain-Barre syndrome, familial
+5 more
GUncertain significance
PMP22
(H121R)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
PMP22
(C85W)
Single nucleotide variant
(missense variant +1 more)
Charcot-Marie-Tooth disease, type I
+8 more
GUncertain significance
MPZ
(T143M)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+6 more
GUncertain significance
MPZ
(P133T)
Single nucleotide variant
(missense variant)
Roussy-Lévy syndrome
+7 more
GPathogenic/Likely pathogenic
PMP22
(E160K)
Single nucleotide variant
(missense variant +1 more)
Charcot-Marie-Tooth disease, type I
+6 more
GUncertain significance
PMP22
Single nucleotide variant
(synonymous variant +1 more)
Charcot-Marie-Tooth disease, type I
+9 more
GBenign/Likely benign
MPZ
(S233R)
Single nucleotide variant
(missense variant)
Roussy-Lévy syndrome
+4 more
GLikely pathogenic
PMP22
(V141G)
Single nucleotide variant
(missense variant +1 more)
Roussy-Lévy syndrome
+3 more
GUncertain significance
MPZ, SDHC
Single nucleotide variant
Gastrointestinal stromal tumor
+11 more
GBenign
PMP22
Single nucleotide variant
(intron variant)
Inborn genetic diseases
+9 more
GBenign/Likely benign
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
(L172P)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth, Intermediate
+3 more
GUncertain significance
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)
Charcot-Marie-Tooth disease type 1B
+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)
Charcot-Marie-Tooth, Intermediate
+3 more
GUncertain significance
MPZ
Microsatellite
(3 prime UTR variant)
Charcot-Marie-Tooth, Intermediate
+4 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 type 4E
+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)
Charcot-Marie-Tooth disease, type I
+10 more
GConflicting classifications of pathogenicity
MPZ
(R67H)
Single nucleotide variant
(missense variant)
not provided
+8 more
GConflicting classifications of pathogenicity
PMP22
(L145fs)
Deletion
(frameshift variant +1 more)
Charcot-Marie-Tooth disease, type I
+4 more
GPathogenic/Likely pathogenic
MPZ
(P151T)
Single nucleotide variant
(missense variant)
not provided
+8 more
GConflicting classifications of pathogenicity
PMP22
(L62R)
Single nucleotide variant
(missense variant +1 more)
Hereditary liability to pressure palsies
+8 more
GUncertain significance
MPZ
Single nucleotide variant
(synonymous variant)
Charcot-Marie-Tooth disease type 1B
+8 more
GBenign
MPZ
Single nucleotide variant
(synonymous variant)
not specified
+8 more
GBenign/Likely benign
MPZ, SDHC
Duplication
(5 prime UTR variant +1 more)
Gastrointestinal stromal tumor
+9 more
GBenign
MPZ
(I62M)
Single nucleotide variant
(missense variant)
not provided
+3 more
GConflicting classifications of pathogenicity
MPZ
(Y145S)
Single nucleotide variant
(missense variant)
not provided
+9 more
GPathogenic
MPZ
(N131K)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease, type I
+1 more
GPathogenic
MPZ
(T124M)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease dominant intermediate D
+9 more
GPathogenic
MPZ
(G167R)
Single nucleotide variant
(missense variant)
Roussy-Lévy syndrome
+7 more
GPathogenic
PMP22
(H12Q)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GPathogenic/Likely pathogenic
PMP22
Duplication
Roussy-Lévy syndrome
+1 more
GPathogenic
Format
Items per page
Sort by
Choose Destination