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Links from MedGen

Items: 1 to 100 of 214

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
GJB1
Single nucleotide variant
(stop lost)
Charcot-Marie-Tooth disease X-linked dominant 1
GUncertain significance
GJB1
Single nucleotide variant
(stop lost)
Charcot-Marie-Tooth disease X-linked dominant 1
GUncertain significance
GJB1
(V91A)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease X-linked dominant 1
GLikely pathogenic
GJB1
(V152A)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease X-linked dominant 1
GLikely pathogenic
GJB1
(I137fs)
Duplication
(frameshift variant)
Charcot-Marie-Tooth disease X-linked dominant 1
GLikely pathogenic
GJB1
(V91E)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease X-linked dominant 1
GLikely pathogenic
GJB1
(M1V)
Single nucleotide variant
(missense variant +1 more)
Charcot-Marie-Tooth disease X-linked dominant 1
+1 more
GPathogenic/Likely pathogenic
GJB1
Single nucleotide variant
(synonymous variant)
Charcot-Marie-Tooth disease X-linked dominant 1
GPathogenic
GJB1
(I20F)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease X-linked dominant 1
GPathogenic
GJB1
Single nucleotide variant
(synonymous variant)
Charcot-Marie-Tooth disease X-linked dominant 1
GPathogenic
GJB1
(I30F)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease X-linked dominant 1
GPathogenic
GJB1
(I30M)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease X-linked dominant 1
GPathogenic
GJB1
(R32K)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease X-linked dominant 1
GPathogenic
GJB1
(R15P)
Single nucleotide variant
(missense variant)
not provided
+1 more
GLikely pathogenic
GJB1
(Y7*)
Single nucleotide variant
(nonsense)
Charcot-Marie-Tooth disease X-linked dominant 1
GLikely pathogenic
GJB1
(L165Q)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease X-linked dominant 1
GPathogenic
GJB1
(W132*)
Single nucleotide variant
(nonsense)
Charcot-Marie-Tooth disease X-linked dominant 1
GPathogenic
GJB1
(G199D)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease X-linked dominant 1
GUncertain significance
GJB1
(E208fs)
Deletion
(frameshift variant)
Charcot-Marie-Tooth Neuropathy X
GPathogenic
GJB1
(A96G)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth Neuropathy X
+1 more
GPathogenic/Likely pathogenic
GJB1
(A96V)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease X-linked dominant 1
GUncertain significance
GJB1
(A207P)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease X-linked dominant 1
GUncertain significance
GJB1
(P174A)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease X-linked dominant 1
GLikely pathogenic
GJB1
(R107Q)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
GJB1
(A216T)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease X-linked dominant 1
GUncertain significance
GJB1
(F235L)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease X-linked dominant 1
+1 more
GUncertain significance
GJB1
(Q98*)
Single nucleotide variant
(nonsense)
Charcot-Marie-Tooth disease X-linked dominant 1
GPathogenic
GJB1
(L156H)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease X-linked dominant 1
GLikely pathogenic
GJB1
Single nucleotide variant
(intron variant)
Charcot-Marie-Tooth disease X-linked dominant 1
GUncertain significance
GJB1
Single nucleotide variant
(3 prime UTR variant)
Charcot-Marie-Tooth disease X-linked dominant 1
GUncertain significance
GJB1
Single nucleotide variant
(3 prime UTR variant)
Charcot-Marie-Tooth disease X-linked dominant 1
GUncertain significance
GJB1
Single nucleotide variant
(3 prime UTR variant)
Charcot-Marie-Tooth disease X-linked dominant 1
GBenign
GJB1
Single nucleotide variant
(3 prime UTR variant)
Charcot-Marie-Tooth disease X-linked dominant 1
GUncertain significance
GJB1
Single nucleotide variant
(3 prime UTR variant)
Charcot-Marie-Tooth disease X-linked dominant 1
GUncertain significance
GJB1
Single nucleotide variant
(3 prime UTR variant)
Charcot-Marie-Tooth disease X-linked dominant 1
GUncertain significance
GJB1
Single nucleotide variant
(5 prime UTR variant +1 more)
Charcot-Marie-Tooth disease X-linked dominant 1
GUncertain significance
GJB1
(N14K)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease X-linked dominant 1
+1 more
GLikely pathogenic
GJB1
(G129E)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth Neuropathy X
+3 more
GConflicting classifications of pathogenicity
GJB1
(I262fs)
Deletion
(frameshift variant)
Charcot-Marie-Tooth disease X-linked dominant 1
GPathogenic
GJB1
(Y157fs)
Microsatellite
(frameshift variant)
Charcot-Marie-Tooth disease X-linked dominant 1
GPathogenic
SBF1
(R1283W +1 more)
Single nucleotide variant
(missense variant)
SBF1-related condition
+3 more
GConflicting classifications of pathogenicity
GJB1
(R224H)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+3 more
GBenign/Likely benign
GJB1
(A40S)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease X-linked dominant 1
GLikely pathogenic
GJB1
Duplication
(inframe_insertion)
Charcot-Marie-Tooth disease
+1 more
GUncertain significance
GJB1
(V170I)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease X-linked dominant 1
GUncertain significance
GJB1
Deletion
(inframe_deletion)
Charcot-Marie-Tooth disease
+1 more
GUncertain significance
GJB1
(G21S)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease
+1 more
GUncertain significance
GJB1
(I20N)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease X-linked dominant 1
+1 more
GUncertain significance
GJB1
(Q255fs)
Duplication
(frameshift variant)
Charcot-Marie-Tooth disease X-linked dominant 1
+1 more
GUncertain significance
GJB1
(I71fs)
Duplication
(frameshift variant)
Charcot-Marie-Tooth disease X-linked dominant 1
+1 more
GUncertain significance
GJB1
Deletion
(nonsense)
Charcot-Marie-Tooth disease X-linked dominant 1
+1 more
GUncertain significance
GJB1
(F180L)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease X-linked dominant 1
+1 more
GPathogenic/Likely pathogenic
GJB1
(R142fs)
Deletion
(frameshift variant)
Charcot-Marie-Tooth disease X-linked dominant 1
+1 more
GUncertain significance
GJB1
(R15fs)
Deletion
(frameshift variant)
Charcot-Marie-Tooth disease X-linked dominant 1
+1 more
GUncertain significance
GJB1
(A92fs)
Deletion
(frameshift variant)
Charcot-Marie-Tooth disease X-linked dominant 1
+1 more
GUncertain significance
GJB1
(A92fs)
Deletion
(frameshift variant)
Charcot-Marie-Tooth disease X-linked dominant 1
+1 more
GUncertain significance
GJB1
(T86A)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease X-linked dominant 1
GUncertain significance
GJB1
(R15L)
Indel
(missense variant)
Charcot-Marie-Tooth disease X-linked dominant 1
+1 more
GUncertain significance
GJB1
(M162fs)
Duplication
(frameshift variant)
Charcot-Marie-Tooth disease X-linked dominant 1
+1 more
GUncertain significance
GJB1
(W133*)
Single nucleotide variant
(nonsense)
not provided
GPathogenic
GJB1
(Q99*)
Single nucleotide variant
(nonsense)
Charcot-Marie-Tooth disease X-linked dominant 1
+1 more
GUncertain significance
GJB1
(E146M)
Indel
(missense variant)
Charcot-Marie-Tooth disease X-linked dominant 1
+1 more
GUncertain significance
GJB1
(D46G)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease X-linked dominant 1
GLikely pathogenic
GJB1
Deletion
(nonsense)
Charcot-Marie-Tooth disease X-linked dominant 1
+1 more
GUncertain significance
GJB1
(V210del)
Microsatellite
(inframe_deletion)
Charcot-Marie-Tooth disease X-linked dominant 1
+1 more
GUncertain significance
GJB1
(V120del)
Deletion
(inframe_deletion)
Charcot-Marie-Tooth disease X-linked dominant 1
+1 more
GUncertain significance
GJB1
(G159fs)
Deletion
(frameshift variant)
Charcot-Marie-Tooth disease X-linked dominant 1
+1 more
GUncertain significance
GJB1
(I52fs)
Deletion
(frameshift variant)
Charcot-Marie-Tooth disease X-linked dominant 1
+1 more
GUncertain significance
GJB1
(S198A)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease X-linked dominant 1
GLikely pathogenic
GJB1
(A147fs)
Deletion
(frameshift variant)
Charcot-Marie-Tooth disease X-linked dominant 1
+1 more
GUncertain significance
GJB1
(F29fs)
Deletion
(frameshift variant)
Charcot-Marie-Tooth disease X-linked dominant 1
+1 more
GUncertain significance
GJB1
(R183P)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease X-linked dominant 1
GLikely pathogenic
GJB1
(I214N)
Indel
(missense variant)
Charcot-Marie-Tooth disease X-linked dominant 1
+1 more
GUncertain significance
GJB1
(V152fs)
Deletion
(frameshift variant)
Charcot-Marie-Tooth Neuropathy X
GPathogenic
GJB1
(S26fs)
Deletion
(frameshift variant)
Charcot-Marie-Tooth disease
+1 more
GUncertain significance
GJB1
(H16L)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease X-linked dominant 1
GPathogenic
GJB1
(R15fs)
Insertion
(frameshift variant)
Charcot-Marie-Tooth disease
+1 more
GUncertain significance
GJB1
(P70F)
Indel
(missense variant)
Charcot-Marie-Tooth disease
+1 more
GUncertain significance
GJB1
(S138N)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease X-linked dominant 1
+1 more
GUncertain significance
GJB1
(M105fs)
Deletion
(frameshift variant)
Charcot-Marie-Tooth disease X-linked dominant 1
+1 more
GUncertain significance
GJB1
(D113fs)
Indel
(frameshift variant)
Charcot-Marie-Tooth disease X-linked dominant 1
+1 more
GUncertain significance
GJB1
(S128*)
Single nucleotide variant
(nonsense)
Charcot-Marie-Tooth disease X-linked dominant 1
+1 more
GUncertain significance
GJB1
(W44*)
Single nucleotide variant
(nonsense)
Charcot-Marie-Tooth Neuropathy X
GPathogenic
GJB1
(L144del)
Microsatellite
(inframe_deletion)
Charcot-Marie-Tooth disease X-linked dominant 1
+1 more
GUncertain significance
GJB1
(H73fs)
Deletion
(frameshift variant)
Charcot-Marie-Tooth disease X-linked dominant 1
+1 more
GUncertain significance
GJB1
(S182T)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease X-linked dominant 1
GPathogenic
GJB1
(T185del)
Deletion
(inframe_deletion)
Charcot-Marie-Tooth disease X-linked dominant 1
+1 more
GUncertain significance
GJB1
(S198F)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease X-linked dominant 1
GLikely pathogenic
GJB1
(I137fs)
Deletion
(frameshift variant)
Charcot-Marie-Tooth disease
+1 more
GConflicting classifications of pathogenicity
GJB1
(S42fs)
Microsatellite
(frameshift variant)
Charcot-Marie-Tooth Neuropathy X
GPathogenic
GJB1
(H94R)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease X-linked dominant 1
GPathogenic
GJB1
(Y65*)
Single nucleotide variant
(nonsense)
Charcot-Marie-Tooth Neuropathy X
GPathogenic
GJB1
(M93fs)
Deletion
(frameshift variant)
Charcot-Marie-Tooth disease X-linked dominant 1
+1 more
GUncertain significance
GJB1
(L83fs)
Deletion
(frameshift variant)
Charcot-Marie-Tooth disease X-linked dominant 1
+1 more
GUncertain significance
GJB1
(S42C)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease X-linked dominant 1
GLikely pathogenic
GJB1
(C179*)
Duplication
(nonsense)
Charcot-Marie-Tooth disease
+1 more
GUncertain significance
GJB1
Insertion
(inframe_insertion)
Charcot-Marie-Tooth disease X-linked dominant 1
+1 more
GUncertain significance
GJB1
(S128*)
Single nucleotide variant
(nonsense)
Charcot-Marie-Tooth disease X-linked dominant 1
+1 more
GUncertain significance
GJB1
(C173F)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease X-linked dominant 1
GPathogenic
GJB1
(E119*)
Single nucleotide variant
(nonsense)
Charcot-Marie-Tooth disease
+1 more
GUncertain significance
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