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Links from Gene

Items: 1 to 100 of 672

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
MPZ
Single nucleotide variant
(synonymous variant)
not specified
GLikely benign
CFAP126, MPZ
+2 more
Copy number gain
not specified
GLikely pathogenic
MPZ
(A188fs)
Deletion
(frameshift variant)
Dejerine-Sottas disease
GLikely pathogenic
MPZ
(A160G)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease, type I
GUncertain significance
MPZ
(K138T)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease, type I
GUncertain significance
MPZ
(R214L)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease, type I
GUncertain significance
MPZ
(V178fs)
Deletion
(frameshift variant)
Charcot-Marie-Tooth disease, type I
GPathogenic
MPZ
(G163A)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease, type I
GUncertain significance
MPZ
(S140P)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease, type I
GUncertain significance
MPZ
Single nucleotide variant
(synonymous variant)
Charcot-Marie-Tooth disease, type I
GUncertain significance
MPZ
Single nucleotide variant
(intron variant)
Charcot-Marie-Tooth disease, type I
GUncertain significance
MPZ
(G72A)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease, type I
GUncertain significance
MPZ
Single nucleotide variant
(intron variant)
Charcot-Marie-Tooth disease, type I
GLikely benign
MPZ
Single nucleotide variant
(synonymous variant)
Charcot-Marie-Tooth disease, type I
GLikely benign
MPZ
Single nucleotide variant
(intron variant)
Charcot-Marie-Tooth disease, type I
GLikely benign
MPZ
(A5S)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease, type I
GUncertain significance
MPZ
(V169D)
Indel
(missense variant)
Charcot-Marie-Tooth disease, type I
GUncertain significance
MPZ
(L170fs)
Deletion
(frameshift variant)
Charcot-Marie-Tooth disease, type I
GPathogenic
MPZ
(T216A)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease, type I
GUncertain significance
MPZ
Single nucleotide variant
(intron variant)
Charcot-Marie-Tooth disease, type I
GLikely benign
MPZ
(K238N)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease, type I
GUncertain significance
MPZ
Single nucleotide variant
(synonymous variant)
Charcot-Marie-Tooth disease, type I
GLikely benign
MPZ
Single nucleotide variant
(synonymous variant)
Charcot-Marie-Tooth disease, type I
GLikely benign
MPZ
(Y177H)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease, type I
GUncertain significance
MPZ
(G200E)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease, type I
GUncertain significance
MPZ
(V23M)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease, type I
GUncertain significance
MPZ
(P205L)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease, type I
GUncertain significance
MPZ
Single nucleotide variant
(synonymous variant)
Charcot-Marie-Tooth disease, type I
GLikely benign
MPZ
Single nucleotide variant
(synonymous variant)
Charcot-Marie-Tooth disease, type I
GUncertain significance
MPZ
(T139del)
Deletion
(inframe_deletion)
Charcot-Marie-Tooth disease, type I
GUncertain significance
MPZ
Single nucleotide variant
(synonymous variant)
Charcot-Marie-Tooth disease, type I
GLikely benign
MPZ
Duplication
(intron variant)
Charcot-Marie-Tooth disease, type I
GLikely benign
MPZ
(W53C)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease, type I
GUncertain significance
MPZ
(H49N)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease, type I
GUncertain significance
MPZ
(F95L)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease, type I
GUncertain significance
MPZ
Single nucleotide variant
(synonymous variant)
Charcot-Marie-Tooth disease, type I
GLikely benign
MPZ
(V142I)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease, type I
GUncertain significance
MPZ
(G43A)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease, type I
GUncertain significance
MPZ
Single nucleotide variant
(intron variant)
Charcot-Marie-Tooth disease, type I
GLikely benign
MPZ
(K108R)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease, type I
GUncertain significance
MPZ
Single nucleotide variant
(intron variant)
Charcot-Marie-Tooth disease, type I
GLikely benign
MPZ
Single nucleotide variant
(synonymous variant)
Charcot-Marie-Tooth disease, type I
GLikely benign
MPZ
Single nucleotide variant
(intron variant)
Charcot-Marie-Tooth disease, type I
GLikely benign
MPZ
(S9N)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease, type I
GUncertain significance
MPZ
(D35E)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease, type I
GUncertain significance
MPZ
(W66G)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease, type I
GUncertain significance
MPZ
Single nucleotide variant
(synonymous variant)
Charcot-Marie-Tooth disease, type I
GUncertain significance
MPZ
(R192K)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease, type I
GUncertain significance
MPZ
(D61V)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease, type I
GUncertain significance
MPZ
Single nucleotide variant
(synonymous variant)
Charcot-Marie-Tooth disease, type I
GLikely benign
MPZ
Single nucleotide variant
(synonymous variant)
Charcot-Marie-Tooth disease, type I
GLikely benign
MPZ
Single nucleotide variant
(synonymous variant)
Charcot-Marie-Tooth disease, type I
GLikely benign
MPZ
Single nucleotide variant
(synonymous variant)
Charcot-Marie-Tooth disease, type I
GLikely benign
MPZ
Single nucleotide variant
(synonymous variant)
Charcot-Marie-Tooth disease, type I
GLikely benign
MPZ
Single nucleotide variant
(intron variant)
Charcot-Marie-Tooth disease, type I
GUncertain significance
MPZ
(K84E)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease, type I
GUncertain significance
MPZ
Single nucleotide variant
(intron variant)
Charcot-Marie-Tooth disease, type I
GLikely benign
MPZ
(I114K)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease, type I
GUncertain significance
MPZ
(T124S)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease, type I
GUncertain significance
ACKR1, ADAMTS4
+107 more
Copy number loss
not provided
GLikely pathogenic
MPZ
(G72E)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease dominant intermediate D
GUncertain significance
MPZ
(A27G)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MPZ
Deletion
(inframe deletion)
Roussy-Lévy syndrome
+2 more
GUncertain significance
MPZ
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
MPZ
(K199N)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 2I
GUncertain significance
MPZ
(Y88N)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 1B
GUncertain significance
MPZ
Deletion
(nonsense)
Charcot-Marie-Tooth disease type 2J
GPathogenic
MPZ
(L144Q)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MPZ
(S25fs)
Indel
(frameshift variant)
Charcot-Marie-Tooth disease dominant intermediate D
GLikely pathogenic
MPZ
(G159A)
Single nucleotide variant
(missense variant)
Tip-toe gait
GLikely pathogenic
MPZ
Single nucleotide variant
(splice donor variant)
Charcot-Marie-Tooth disease type 1B
GPathogenic
MPZ
(S55N)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
MPZ
Duplication
not specified
GUncertain significance
MPZ
(G155R)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease, type I
+4 more
GUncertain significance
MPZ
Single nucleotide variant
(splice donor variant)
Charcot-Marie-Tooth disease, type I
+1 more
GPathogenic/Likely pathogenic
MPZ
(E71G)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease, type I
GUncertain significance
MPZ
(S120G)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MPZ
(H39Q)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ATF6, CFAP126
+11 more
Duplication
Charcot-Marie-Tooth disease, type I
GUncertain significance
MPZ
Deletion
Charcot-Marie-Tooth disease, type I
GPathogenic
MPZ
(Y88*)
Duplication
(nonsense)
Charcot-Marie-Tooth disease, type I
GPathogenic
MPZ
(T229A)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease, type I
GUncertain significance
MPZ
Single nucleotide variant
(synonymous variant)
Charcot-Marie-Tooth disease, type I
GLikely benign
MPZ
(V150L)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease, type I
GUncertain significance
MPZ
Single nucleotide variant
(intron variant)
Charcot-Marie-Tooth disease, type I
GLikely benign
MPZ
Single nucleotide variant
(synonymous variant)
Charcot-Marie-Tooth disease, type I
GLikely benign
MPZ
(D60N)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease, type I
GUncertain significance
MPZ
(V129F)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease, type I
GUncertain significance
MPZ
(V102fs)
Insertion
(frameshift variant)
Charcot-Marie-Tooth disease, type I
GPathogenic
MPZ
Single nucleotide variant
(intron variant)
Charcot-Marie-Tooth disease, type I
GLikely benign
MPZ
Single nucleotide variant
(splice donor variant)
Charcot-Marie-Tooth disease, type I
GLikely pathogenic
MPZ
(P70H)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease, type I
GUncertain significance
MPZ
(S51T)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease, type I
GUncertain significance
MPZ
(T47I)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease, type I
GUncertain significance
MPZ
Single nucleotide variant
(synonymous variant)
Charcot-Marie-Tooth disease, type I
GLikely benign
MPZ
(F125S)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease, type I
GUncertain significance
MPZ
(P12A)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease, type I
GUncertain significance
MPZ
(R186S)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease, type I
GUncertain significance
MPZ
(K248E)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease, type I
GUncertain significance
MPZ
(S243F)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease, type I
GUncertain significance
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