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Items: 1 to 100 of 1125

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PLEKHG5
(T615N +2 more)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease recessive intermediate C
GUncertain significance
PLEKHG5
Single nucleotide variant
(synonymous variant)
Charcot-Marie-Tooth disease recessive intermediate C
+1 more
GLikely benign
PLEKHG5
(E716* +2 more)
Single nucleotide variant
(nonsense)
Charcot-Marie-Tooth disease recessive intermediate C
+1 more
GPathogenic
PLEKHG5
Single nucleotide variant
(intron variant)
Charcot-Marie-Tooth disease recessive intermediate C
+1 more
GLikely benign
PLEKHG5
Deletion
(intron variant)
Charcot-Marie-Tooth disease recessive intermediate C
+1 more
GLikely benign
PLEKHG5
Single nucleotide variant
(intron variant)
Charcot-Marie-Tooth disease recessive intermediate C
+1 more
GLikely benign
PLEKHG5
Duplication
(intron variant)
Charcot-Marie-Tooth disease recessive intermediate C
+1 more
GBenign
PLEKHG5
(S744fs +2 more)
Deletion
(frameshift variant)
Neuronopathy, distal hereditary motor, autosomal recessive 4
+1 more
GPathogenic
PLEKHG5
Single nucleotide variant
(synonymous variant)
Neuronopathy, distal hereditary motor, autosomal recessive 4
+1 more
GLikely benign
PLEKHG5
Deletion
(intron variant)
Neuronopathy, distal hereditary motor, autosomal recessive 4
+1 more
GLikely benign
PLEKHG5
Single nucleotide variant
(synonymous variant)
Neuronopathy, distal hereditary motor, autosomal recessive 4
+1 more
GLikely benign
PLEKHG5
(E512* +2 more)
Single nucleotide variant
(nonsense)
Charcot-Marie-Tooth disease recessive intermediate C
+1 more
GPathogenic/Likely pathogenic
PLEKHG5
Single nucleotide variant
(splice donor variant)
Neuronopathy, distal hereditary motor, autosomal recessive 4
+1 more
GLikely pathogenic
PLEKHG5
Single nucleotide variant
(synonymous variant)
Neuronopathy, distal hereditary motor, autosomal recessive 4
+1 more
GLikely benign
PLEKHG5
Single nucleotide variant
(intron variant)
Neuronopathy, distal hereditary motor, autosomal recessive 4
+1 more
GLikely benign
PLEKHG5
(E649fs +2 more)
Duplication
(frameshift variant)
Neuronopathy, distal hereditary motor, autosomal recessive 4
+1 more
GPathogenic
PLEKHG5
Single nucleotide variant
(synonymous variant)
Neuronopathy, distal hereditary motor, autosomal recessive 4
+1 more
GLikely benign
PLEKHG5
Single nucleotide variant
(synonymous variant)
Neuronopathy, distal hereditary motor, autosomal recessive 4
+1 more
GLikely benign
PLEKHG5
Single nucleotide variant
(intron variant)
Neuronopathy, distal hereditary motor, autosomal recessive 4
+1 more
GLikely benign
PLEKHG5
Single nucleotide variant
(intron variant)
Neuronopathy, distal hereditary motor, autosomal recessive 4
+1 more
GLikely benign
PLEKHG5
Single nucleotide variant
(synonymous variant)
Neuronopathy, distal hereditary motor, autosomal recessive 4
+1 more
GLikely benign
PLEKHG5
Single nucleotide variant
(intron variant)
Neuronopathy, distal hereditary motor, autosomal recessive 4
+1 more
GLikely benign
PLEKHG5
Single nucleotide variant
(intron variant)
Neuronopathy, distal hereditary motor, autosomal recessive 4
+1 more
GLikely benign
PLEKHG5
Single nucleotide variant
(intron variant)
Neuronopathy, distal hereditary motor, autosomal recessive 4
+1 more
GLikely benign
PLEKHG5
Single nucleotide variant
(synonymous variant)
Neuronopathy, distal hereditary motor, autosomal recessive 4
+1 more
GLikely benign
PLEKHG5
Single nucleotide variant
(synonymous variant)
Neuronopathy, distal hereditary motor, autosomal recessive 4
+1 more
GLikely benign
PLEKHG5
Single nucleotide variant
(intron variant)
Neuronopathy, distal hereditary motor, autosomal recessive 4
+1 more
GLikely benign
PLEKHG5
Single nucleotide variant
(intron variant)
Neuronopathy, distal hereditary motor, autosomal recessive 4
+1 more
GLikely benign
PLEKHG5
(K877* +2 more)
Duplication
(nonsense)
Neuronopathy, distal hereditary motor, autosomal recessive 4
+1 more
GPathogenic
PLEKHG5
Single nucleotide variant
(synonymous variant)
Neuronopathy, distal hereditary motor, autosomal recessive 4
+1 more
GLikely benign
PLEKHG5
Single nucleotide variant
(splice donor variant)
Neuronopathy, distal hereditary motor, autosomal recessive 4
+1 more
GLikely pathogenic
PLEKHG5
Single nucleotide variant
(synonymous variant)
Neuronopathy, distal hereditary motor, autosomal recessive 4
+1 more
GLikely benign
PLEKHG5
(K100* +2 more)
Single nucleotide variant
(nonsense)
Neuronopathy, distal hereditary motor, autosomal recessive 4
+1 more
GPathogenic
PLEKHG5
Single nucleotide variant
(synonymous variant)
Neuronopathy, distal hereditary motor, autosomal recessive 4
+1 more
GLikely benign
PLEKHG5
Single nucleotide variant
(intron variant)
Neuronopathy, distal hereditary motor, autosomal recessive 4
+1 more
GLikely benign
PLEKHG5
Single nucleotide variant
(intron variant)
Neuronopathy, distal hereditary motor, autosomal recessive 4
+1 more
GLikely benign
PLEKHG5
Single nucleotide variant
(intron variant)
Neuronopathy, distal hereditary motor, autosomal recessive 4
+1 more
GLikely benign
LOC126805598, PLEKHG5
Single nucleotide variant
(synonymous variant)
Neuronopathy, distal hereditary motor, autosomal recessive 4
+1 more
GLikely benign
PLEKHG5
Single nucleotide variant
(synonymous variant)
Neuronopathy, distal hereditary motor, autosomal recessive 4
+1 more
GLikely benign
PLEKHG5
Single nucleotide variant
(synonymous variant)
Neuronopathy, distal hereditary motor, autosomal recessive 4
+1 more
GLikely benign
PLEKHG5
Single nucleotide variant
(synonymous variant)
Neuronopathy, distal hereditary motor, autosomal recessive 4
+1 more
GLikely benign
PLEKHG5
Single nucleotide variant
(synonymous variant)
Neuronopathy, distal hereditary motor, autosomal recessive 4
+1 more
GLikely benign
PLEKHG5
Single nucleotide variant
(intron variant)
Neuronopathy, distal hereditary motor, autosomal recessive 4
+1 more
GLikely benign
PLEKHG5
Single nucleotide variant
(splice acceptor variant)
Neuronopathy, distal hereditary motor, autosomal recessive 4
+1 more
GLikely pathogenic
PLEKHG5
Single nucleotide variant
(intron variant)
Neuronopathy, distal hereditary motor, autosomal recessive 4
+1 more
GLikely benign
PLEKHG5
Single nucleotide variant
(intron variant)
Neuronopathy, distal hereditary motor, autosomal recessive 4
+1 more
GLikely benign
PLEKHG5
Single nucleotide variant
(intron variant)
Neuronopathy, distal hereditary motor, autosomal recessive 4
+1 more
GLikely benign
PLEKHG5
Single nucleotide variant
(synonymous variant)
Neuronopathy, distal hereditary motor, autosomal recessive 4
+1 more
GLikely benign
PLEKHG5
Single nucleotide variant
(intron variant)
Neuronopathy, distal hereditary motor, autosomal recessive 4
+1 more
GLikely benign
PLEKHG5
Single nucleotide variant
(synonymous variant)
Neuronopathy, distal hereditary motor, autosomal recessive 4
+1 more
GLikely benign
PLEKHG5
Single nucleotide variant
(intron variant)
Neuronopathy, distal hereditary motor, autosomal recessive 4
+1 more
GLikely benign
PLEKHG5
Single nucleotide variant
(synonymous variant)
Neuronopathy, distal hereditary motor, autosomal recessive 4
+1 more
GLikely benign
PLEKHG5
(F830fs +2 more)
Deletion
(frameshift variant)
Neuronopathy, distal hereditary motor, autosomal recessive 4
+1 more
GPathogenic
PLEKHG5
Single nucleotide variant
(intron variant)
Neuronopathy, distal hereditary motor, autosomal recessive 4
+1 more
GLikely benign
PLEKHG5
Single nucleotide variant
(synonymous variant +1 more)
Neuronopathy, distal hereditary motor, autosomal recessive 4
+1 more
GLikely benign
PLEKHG5
(E717fs +2 more)
Deletion
(frameshift variant)
Neuronopathy, distal hereditary motor, autosomal recessive 4
+1 more
GPathogenic
PLEKHG5
Single nucleotide variant
(synonymous variant)
Neuronopathy, distal hereditary motor, autosomal recessive 4
+1 more
GLikely benign
PLEKHG5
Deletion
(intron variant)
Neuronopathy, distal hereditary motor, autosomal recessive 4
+1 more
GLikely benign
PLEKHG5
(A466fs +2 more)
Deletion
(frameshift variant)
Neuronopathy, distal hereditary motor, autosomal recessive 4
+1 more
GPathogenic
PLEKHG5
(A1023T +3 more)
Single nucleotide variant
(missense variant)
Neuronopathy, distal hereditary motor, autosomal recessive 4
+1 more
GUncertain significance
PLEKHG5
(Q407R +2 more)
Single nucleotide variant
(missense variant)
Neuronopathy, distal hereditary motor, autosomal recessive 4
+1 more
GUncertain significance
PLEKHG5
(Q508R +2 more)
Single nucleotide variant
(missense variant)
Neuronopathy, distal hereditary motor, autosomal recessive 4
+1 more
GUncertain significance
PLEKHG5
Single nucleotide variant
(synonymous variant)
Neuronopathy, distal hereditary motor, autosomal recessive 4
+1 more
GLikely benign
PLEKHG5
Single nucleotide variant
(synonymous variant)
Neuronopathy, distal hereditary motor, autosomal recessive 4
+1 more
GLikely benign
PLEKHG5
Single nucleotide variant
(intron variant)
Neuronopathy, distal hereditary motor, autosomal recessive 4
+1 more
GLikely benign
PLEKHG5
Single nucleotide variant
(synonymous variant)
Neuronopathy, distal hereditary motor, autosomal recessive 4
+1 more
GLikely benign
PLEKHG5
Single nucleotide variant
(intron variant)
Neuronopathy, distal hereditary motor, autosomal recessive 4
+1 more
GLikely benign
PLEKHG5
Single nucleotide variant
(synonymous variant)
Neuronopathy, distal hereditary motor, autosomal recessive 4
+1 more
GLikely benign
PLEKHG5
Single nucleotide variant
(synonymous variant)
Neuronopathy, distal hereditary motor, autosomal recessive 4
+1 more
GLikely benign
PLEKHG5
Single nucleotide variant
(splice acceptor variant)
Neuronopathy, distal hereditary motor, autosomal recessive 4
+1 more
GLikely pathogenic
LOC126805598, PLEKHG5
(Q83fs +2 more)
Duplication
(frameshift variant)
Neuronopathy, distal hereditary motor, autosomal recessive 4
+1 more
GPathogenic
PLEKHG5
Single nucleotide variant
(intron variant)
Neuronopathy, distal hereditary motor, autosomal recessive 4
+1 more
GLikely benign
PLEKHG5
Duplication
(intron variant)
Neuronopathy, distal hereditary motor, autosomal recessive 4
+1 more
GBenign
PLEKHG5
Single nucleotide variant
(intron variant)
Neuronopathy, distal hereditary motor, autosomal recessive 4
+1 more
GLikely benign
PLEKHG5
Single nucleotide variant
(synonymous variant)
Neuronopathy, distal hereditary motor, autosomal recessive 4
+1 more
GLikely benign
PLEKHG5
Single nucleotide variant
(intron variant)
Neuronopathy, distal hereditary motor, autosomal recessive 4
+1 more
GLikely benign
PLEKHG5
Single nucleotide variant
(intron variant)
Neuronopathy, distal hereditary motor, autosomal recessive 4
+1 more
GLikely benign
PLEKHG5
Single nucleotide variant
(synonymous variant)
Neuronopathy, distal hereditary motor, autosomal recessive 4
+1 more
GLikely benign
PLEKHG5
Single nucleotide variant
(intron variant)
Neuronopathy, distal hereditary motor, autosomal recessive 4
+1 more
GLikely benign
PLEKHG5
Single nucleotide variant
(intron variant)
Neuronopathy, distal hereditary motor, autosomal recessive 4
+1 more
GLikely benign
PLEKHG5
Single nucleotide variant
(synonymous variant)
Neuronopathy, distal hereditary motor, autosomal recessive 4
+1 more
GLikely benign
PLEKHG5
(Q748fs +2 more)
Deletion
(frameshift variant)
Neuronopathy, distal hereditary motor, autosomal recessive 4
+1 more
GPathogenic
PLEKHG5
Single nucleotide variant
(intron variant)
Neuronopathy, distal hereditary motor, autosomal recessive 4
+1 more
GLikely benign
PLEKHG5
Single nucleotide variant
(synonymous variant)
Neuronopathy, distal hereditary motor, autosomal recessive 4
+1 more
GLikely benign
PLEKHG5
Single nucleotide variant
(intron variant)
Neuronopathy, distal hereditary motor, autosomal recessive 4
+1 more
GLikely benign
PLEKHG5
Single nucleotide variant
(intron variant)
Neuronopathy, distal hereditary motor, autosomal recessive 4
+1 more
GLikely benign
PLEKHG5
Single nucleotide variant
(synonymous variant)
Neuronopathy, distal hereditary motor, autosomal recessive 4
+1 more
GLikely benign
PLEKHG5
Single nucleotide variant
(synonymous variant)
Neuronopathy, distal hereditary motor, autosomal recessive 4
+1 more
GLikely benign
PLEKHG5
Single nucleotide variant
(intron variant)
Neuronopathy, distal hereditary motor, autosomal recessive 4
+1 more
GLikely benign
PLEKHG5
Single nucleotide variant
(synonymous variant)
Neuronopathy, distal hereditary motor, autosomal recessive 4
+1 more
GLikely benign
PLEKHG5
Single nucleotide variant
(intron variant)
Neuronopathy, distal hereditary motor, autosomal recessive 4
+1 more
GLikely benign
PLEKHG5
Single nucleotide variant
(synonymous variant)
Neuronopathy, distal hereditary motor, autosomal recessive 4
+1 more
GLikely benign
PLEKHG5
Single nucleotide variant
(synonymous variant)
Neuronopathy, distal hereditary motor, autosomal recessive 4
+1 more
GLikely benign
PLEKHG5
Single nucleotide variant
(synonymous variant)
Neuronopathy, distal hereditary motor, autosomal recessive 4
+1 more
GLikely benign
PLEKHG5
Single nucleotide variant
(intron variant)
Neuronopathy, distal hereditary motor, autosomal recessive 4
+1 more
GLikely benign
PLEKHG5
Single nucleotide variant
(synonymous variant)
Neuronopathy, distal hereditary motor, autosomal recessive 4
+1 more
GLikely benign
PLEKHG5
(Q817* +2 more)
Single nucleotide variant
(nonsense)
Neuronopathy, distal hereditary motor, autosomal recessive 4
+1 more
GPathogenic
PLEKHG5
Single nucleotide variant
(intron variant)
Neuronopathy, distal hereditary motor, autosomal recessive 4
+1 more
GLikely benign
PLEKHG5
Single nucleotide variant
(synonymous variant)
Neuronopathy, distal hereditary motor, autosomal recessive 4
+1 more
GLikely benign
PLEKHG5
Single nucleotide variant
(synonymous variant)
Neuronopathy, distal hereditary motor, autosomal recessive 4
+1 more
GLikely benign
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