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Links from MedGen

Items: 1 to 100 of 104

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
MPZ
(Y88N)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 1B
GUncertain significance
MPZ
Single nucleotide variant
(splice donor variant)
Charcot-Marie-Tooth disease type 1B
GPathogenic
MPZ
(G155R)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease, type I
+4 more
GUncertain significance
MPZ
(E71G)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease, type I
GUncertain significance
MPZ
Single nucleotide variant
(splice acceptor variant)
Charcot-Marie-Tooth disease type 1B
GLikely pathogenic
MPZ
(D134V)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 1B
GPathogenic
MPZ
Single nucleotide variant
(splice acceptor variant)
Charcot-Marie-Tooth disease type 1B
GLikely pathogenic
MPZ
(G93R)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 1B
+1 more
GLikely pathogenic
MPZ
Single nucleotide variant
(synonymous variant)
Charcot-Marie-Tooth disease, type I
+3 more
GConflicting classifications of pathogenicity
MPZ
(W101C)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 1B
+1 more
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
MPZ
(I135L)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease, type I
+1 more
GLikely pathogenic
MPZ
(D121G)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease, type I
+1 more
GUncertain significance
MPZ
(T65N)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease, type I
+1 more
GPathogenic/Likely pathogenic
MPZ
(S111F)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease
+1 more
GConflicting classifications of pathogenicity
MPZ
Single nucleotide variant
(intron variant)
Charcot-Marie-Tooth disease, type I
+1 more
GLikely benign
MPZ
(F64del)
Deletion
(inframe_deletion)
Charcot-Marie-Tooth disease type 1B
GLikely pathogenic
MPZ
(T34I)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease, type I
+1 more
GConflicting classifications of pathogenicity
SH3TC2
Single nucleotide variant
(intron variant)
Inborn genetic diseases
+2 more
GConflicting classifications of pathogenicity
Deletion
Variegate porphyria
+3 more
GPathogenic
MPZ
(T143M)
Single nucleotide variant
(missense variant)
Neuropathy, congenital hypomyelinating, 2
+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
(D134N)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 1B
+2 more
GConflicting classifications of pathogenicity
MPZ
(K236del)
Microsatellite
(inframe_deletion)
Inborn genetic diseases
+4 more
GConflicting classifications of pathogenicity
MPZ
(W101R)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 1B
+1 more
GLikely pathogenic
MPZ
Single nucleotide variant
(5 prime UTR variant)
Neuropathy, congenital hypomyelinating, 2
+4 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)
Neuropathy, congenital hypomyelinating, 2
+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)
MPZ-related condition
+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)
Neuropathy, congenital hypomyelinating, 2
+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)
Inborn genetic diseases
+9 more
GConflicting classifications of pathogenicity
MPZ
(R45W)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+10 more
GConflicting classifications of pathogenicity
MPZ
(S63del)
Deletion
(inframe_deletion)
Charcot-Marie-Tooth disease, type I
+1 more
GPathogenic
MPZ
Single nucleotide variant
(splice donor variant)
not provided
GPathogenic
MPZ
(I135L)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 1B
GPathogenic
MPZ, SDHC
Deletion
Charcot-Marie-Tooth disease type 1B
GLikely pathogenic
MPZ
Duplication
(genic upstream transcript variant)
Charcot-Marie-Tooth disease type 1B
GLikely pathogenic
MPZ
(R67H)
Single nucleotide variant
(missense variant)
Neuropathy, congenital hypomyelinating, 2
+8 more
GConflicting classifications of pathogenicity
MPZ
Deletion
(splice acceptor variant)
Charcot-Marie-Tooth disease type 1B
+1 more
GConflicting classifications of pathogenicity
MPZ
(G137D)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 1B
GPathogenic
MPZ
(P151T)
Single nucleotide variant
(missense variant)
not provided
+8 more
GConflicting classifications of pathogenicity
MPZ
Protein only
Charcot-Marie-Tooth disease type 1B
GPathogenic
MPZ
(G167R)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease, type I
GPathogenic
MPZ
(G163R)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease, type I
GPathogenic
MPZ
(H81Y +1 more)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 1B
GPathogenic
MPZ
(D61N)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease, type I
+1 more
GPathogenic
MPZ
Single nucleotide variant
(synonymous variant)
Neuropathy, congenital hypomyelinating, 2
+8 more
GBenign
MPZ
Single nucleotide variant
(synonymous variant)
Neuropathy, congenital hypomyelinating, 2
+8 more
GBenign/Likely benign
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
(N116S)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+3 more
GUncertain significance
MPZ
(S55I)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease
GUncertain significance
MPZ
(D224Y)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GPathogenic/Likely pathogenic
MPZ
(M197fs)
Duplication
(frameshift variant)
Charcot-Marie-Tooth disease type 1B
Gnot provided
MPZ
(G163R)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GPathogenic/Likely pathogenic
MPZ
(K130R)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease, type I
+2 more
GConflicting classifications of pathogenicity
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
(H81Y)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease, type I
GLikely pathogenic
MPZ
(S59T)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 1B
Gnot provided
MPZ
(I30T)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease, type I
GLikely pathogenic
MPZ
Single nucleotide variant
(synonymous variant)
Charcot-Marie-Tooth disease, type I
GLikely pathogenic
MPZ
(G123S)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease
+1 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 condition
+9 more
GPathogenic
MPZ
(G103E)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GConflicting classifications of pathogenicity
MPZ
(N131K)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease, type I
+1 more
GPathogenic
MPZ
(S44F)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+3 more
GPathogenic
MPZ
(D75V)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease, type I
GPathogenic
MPZ
(T124M)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+9 more
GPathogenic
MPZ
(H81R)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease, type I
+1 more
GPathogenic
MPZ
(S63F)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease
+1 more
GPathogenic/Likely pathogenic
MPZ
(R98H)
Single nucleotide variant
(missense variant)
MPZ-related condition
+10 more
GPathogenic/Likely pathogenic
MPZ
(R98C)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease, type I
+2 more
GPathogenic
MPZ
(R98P)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GPathogenic/Likely pathogenic
MPZ
(G137S)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease, type I
+1 more
GLikely pathogenic
MPZ
(I135T)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic/Likely pathogenic
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