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Links from MedGen

Items: 1 to 100 of 106

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
GDAP1
(L167W +3 more)
Single nucleotide variant
(missense variant +1 more)
Charcot-Marie-Tooth disease recessive intermediate A
GUncertain significance
GDAP1
(T145fs +3 more)
Duplication
(frameshift variant +1 more)
Charcot-Marie-Tooth disease recessive intermediate A
GLikely pathogenic
GDAP1
Single nucleotide variant
(intron variant)
Charcot-Marie-Tooth disease recessive intermediate A
+1 more
GUncertain significance
GDAP1
Single nucleotide variant
(3 prime UTR variant +1 more)
Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive
+2 more
GLikely benign
GDAP1
Single nucleotide variant
(3 prime UTR variant +1 more)
Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive
+1 more
GUncertain significance
GDAP1
Single nucleotide variant
(3 prime UTR variant +1 more)
Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive
+1 more
GUncertain significance
GDAP1
Single nucleotide variant
(3 prime UTR variant +1 more)
Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive
+1 more
GUncertain significance
GDAP1
Single nucleotide variant
(3 prime UTR variant +1 more)
Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive
+1 more
GUncertain significance
GDAP1
Single nucleotide variant
(3 prime UTR variant +1 more)
Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive
+1 more
GUncertain significance
GDAP1
(Q31L +1 more)
Single nucleotide variant
(missense variant +1 more)
Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive
+1 more
GUncertain significance
GDAP1
Single nucleotide variant
(3 prime UTR variant +1 more)
Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive
+1 more
GUncertain significance
GDAP1
Single nucleotide variant
(3 prime UTR variant +1 more)
Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive
+1 more
GBenign
GDAP1
Single nucleotide variant
(3 prime UTR variant +1 more)
Charcot-Marie-Tooth disease recessive intermediate A
+2 more
GLikely benign
GDAP1
Single nucleotide variant
(3 prime UTR variant +1 more)
Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive
+1 more
GUncertain significance
GDAP1
Single nucleotide variant
(3 prime UTR variant +1 more)
Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive
+1 more
GUncertain significance
GDAP1
Single nucleotide variant
(3 prime UTR variant +1 more)
Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive
+2 more
GBenign/Likely benign
GDAP1
Single nucleotide variant
(3 prime UTR variant +1 more)
Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive
+1 more
GUncertain significance
GDAP1
Single nucleotide variant
(3 prime UTR variant +1 more)
Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive
+1 more
GUncertain significance
GDAP1
Single nucleotide variant
(3 prime UTR variant +1 more)
Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive
+1 more
GUncertain significance
GDAP1
Single nucleotide variant
(3 prime UTR variant +1 more)
Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive
+1 more
GUncertain significance
GDAP1
Single nucleotide variant
(3 prime UTR variant +1 more)
Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive
+1 more
GLikely benign
GDAP1
Single nucleotide variant
(3 prime UTR variant +1 more)
Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive
+1 more
GLikely benign
GDAP1
Single nucleotide variant
(3 prime UTR variant +1 more)
Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive
+1 more
GUncertain significance
GDAP1
(C131S +3 more)
Single nucleotide variant
(missense variant +1 more)
Charcot-Marie-Tooth disease recessive intermediate A
+2 more
GUncertain significance
GDAP1
Single nucleotide variant
(3 prime UTR variant +1 more)
Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive
+1 more
GUncertain significance
GDAP1
Single nucleotide variant
(3 prime UTR variant +1 more)
Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive
+1 more
GBenign
GDAP1
Single nucleotide variant
(3 prime UTR variant +1 more)
Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive
+1 more
GUncertain significance
GDAP1
Single nucleotide variant
(3 prime UTR variant +1 more)
Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive
+1 more
GUncertain significance
GDAP1
Single nucleotide variant
(synonymous variant +1 more)
Charcot-Marie-Tooth disease recessive intermediate A
+2 more
GConflicting classifications of pathogenicity
GDAP1
Single nucleotide variant
(intron variant)
Charcot-Marie-Tooth disease recessive intermediate A
+1 more
GUncertain significance
GDAP1
Single nucleotide variant
(intron variant)
Charcot-Marie-Tooth disease recessive intermediate A
+1 more
GUncertain significance
GDAP1
Single nucleotide variant
(3 prime UTR variant +1 more)
Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive
+1 more
GUncertain significance
GDAP1
Single nucleotide variant
(3 prime UTR variant +1 more)
Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive
+1 more
GUncertain significance
GDAP1
Single nucleotide variant
(3 prime UTR variant +1 more)
Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive
+1 more
GUncertain significance
GDAP1
Single nucleotide variant
(3 prime UTR variant +1 more)
Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive
+1 more
GUncertain significance
GDAP1
Single nucleotide variant
(3 prime UTR variant +1 more)
Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive
+1 more
GUncertain significance
GDAP1
(K182R +3 more)
Single nucleotide variant
(missense variant +1 more)
Charcot-Marie-Tooth disease recessive intermediate A
+2 more
GUncertain significance
GDAP1
(M238V +3 more)
Single nucleotide variant
(missense variant +1 more)
Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive
+4 more
GUncertain significance
GDAP1
(V243M +3 more)
Single nucleotide variant
(missense variant +1 more)
Charcot-Marie-Tooth disease recessive intermediate A
+1 more
GUncertain significance
GDAP1
Single nucleotide variant
(intron variant)
Charcot-Marie-Tooth disease axonal type 2K
+4 more
GBenign
GDAP1, LOC130000622
Single nucleotide variant
(intron variant)
Charcot-Marie-Tooth disease axonal type 2K
+5 more
GBenign
GDAP1
(G241S +3 more)
Single nucleotide variant
(missense variant +1 more)
Charcot-Marie-Tooth disease axonal type 2K
+4 more
GUncertain significance
GDAP1
(Y117fs +2 more)
Duplication
(frameshift variant +1 more)
Charcot-Marie-Tooth disease recessive intermediate A
GPathogenic
GDAP1
(T38fs +2 more)
Deletion
(frameshift variant +1 more)
Charcot-Marie-Tooth disease
+1 more
GUncertain significance
GDAP1
(H256R +3 more)
Single nucleotide variant
(missense variant +1 more)
Charcot-Marie-Tooth disease type 4A
+5 more
GPathogenic
GDAP1
Deletion
(intron variant)
Charcot-Marie-Tooth disease recessive intermediate A
GPathogenic
GDAP1
(T322M +3 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+5 more
GConflicting classifications of pathogenicity
GDAP1
(K259R +3 more)
Single nucleotide variant
(missense variant +1 more)
Charcot-Marie-Tooth disease recessive intermediate A
+2 more
GUncertain significance
GDAP1
(A336S +3 more)
Single nucleotide variant
(missense variant +1 more)
Charcot-Marie-Tooth disease type 4A
+4 more
GUncertain significance
Charcot-Marie-Tooth disease recessive intermediate A
+3 more
GPathogenic
GDAP1
(F195fs +3 more)
Deletion
(frameshift variant +1 more)
not provided
+2 more
GPathogenic/Likely pathogenic
GDAP1
(P153L +2 more)
Single nucleotide variant
(missense variant +1 more)
Charcot-Marie-Tooth disease type 4A
+4 more
GPathogenic/Likely pathogenic
GDAP1
Single nucleotide variant
(synonymous variant)
Charcot-Marie-Tooth disease
+4 more
GConflicting classifications of pathogenicity
GDAP1
Single nucleotide variant
(intron variant)
Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive
+1 more
GUncertain significance
GDAP1
Single nucleotide variant
(3 prime UTR variant +1 more)
Charcot-Marie-Tooth disease recessive intermediate A
+1 more
GBenign
GDAP1
Single nucleotide variant
(3 prime UTR variant +1 more)
Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive
+1 more
GLikely benign
GDAP1
Single nucleotide variant
(3 prime UTR variant +1 more)
Charcot-Marie-Tooth disease recessive intermediate A
+1 more
GUncertain significance
GDAP1
Single nucleotide variant
(3 prime UTR variant +1 more)
Charcot-Marie-Tooth disease recessive intermediate A
+1 more
GBenign
GDAP1
Single nucleotide variant
(3 prime UTR variant +1 more)
Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive
+1 more
GUncertain significance
GDAP1
Single nucleotide variant
(3 prime UTR variant +1 more)
Charcot-Marie-Tooth disease recessive intermediate A
+1 more
GUncertain significance
GDAP1
Single nucleotide variant
(3 prime UTR variant +1 more)
Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive
+1 more
GUncertain significance
GDAP1
Single nucleotide variant
(3 prime UTR variant +1 more)
Charcot-Marie-Tooth disease recessive intermediate A
+1 more
GUncertain significance
GDAP1
Single nucleotide variant
(3 prime UTR variant +1 more)
Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive
+1 more
GBenign
GDAP1
Single nucleotide variant
(3 prime UTR variant +1 more)
Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive
+2 more
GBenign
GDAP1
Single nucleotide variant
(3 prime UTR variant +1 more)
Charcot-Marie-Tooth disease recessive intermediate A
+1 more
GUncertain significance
GDAP1
Single nucleotide variant
(3 prime UTR variant +1 more)
Charcot-Marie-Tooth disease recessive intermediate A
+1 more
GLikely benign
GDAP1
Single nucleotide variant
(3 prime UTR variant +1 more)
Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive
+2 more
GBenign
GDAP1
Single nucleotide variant
(3 prime UTR variant +1 more)
Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive
+1 more
GConflicting classifications of pathogenicity
GDAP1
Single nucleotide variant
(3 prime UTR variant +1 more)
Charcot-Marie-Tooth disease recessive intermediate A
+1 more
GUncertain significance
GDAP1
Single nucleotide variant
(3 prime UTR variant +1 more)
Charcot-Marie-Tooth disease recessive intermediate A
+1 more
GUncertain significance
GDAP1
Single nucleotide variant
(3 prime UTR variant +1 more)
Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive
+1 more
GUncertain significance
GDAP1
Single nucleotide variant
(3 prime UTR variant +1 more)
Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive
+1 more
GUncertain significance
GDAP1
Single nucleotide variant
(3 prime UTR variant +1 more)
Charcot-Marie-Tooth disease recessive intermediate A
+1 more
GBenign
GDAP1
Single nucleotide variant
(3 prime UTR variant +1 more)
Charcot-Marie-Tooth disease recessive intermediate A
+1 more
GUncertain significance
GDAP1
Single nucleotide variant
(3 prime UTR variant +1 more)
Charcot-Marie-Tooth disease recessive intermediate A
+1 more
GUncertain significance
GDAP1
Single nucleotide variant
(3 prime UTR variant +1 more)
Charcot-Marie-Tooth disease recessive intermediate A
+1 more
GBenign
GDAP1
Single nucleotide variant
(3 prime UTR variant +1 more)
Charcot-Marie-Tooth disease recessive intermediate A
+1 more
GLikely benign
GDAP1
Single nucleotide variant
(3 prime UTR variant +1 more)
Charcot-Marie-Tooth disease recessive intermediate A
+1 more
GUncertain significance
GDAP1
Single nucleotide variant
(3 prime UTR variant +1 more)
Charcot-Marie-Tooth disease recessive intermediate A
+1 more
GUncertain significance
GDAP1
Single nucleotide variant
(3 prime UTR variant +1 more)
Charcot-Marie-Tooth disease recessive intermediate A
+1 more
GUncertain significance
GDAP1
Single nucleotide variant
(intron variant +1 more)
Charcot-Marie-Tooth disease recessive intermediate A
+1 more
GUncertain significance
GDAP1
Single nucleotide variant
(3 prime UTR variant +1 more)
Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive
+1 more
GUncertain significance
GDAP1
Single nucleotide variant
(3 prime UTR variant +1 more)
Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive
+1 more
GUncertain significance
GDAP1
Single nucleotide variant
(3 prime UTR variant +1 more)
Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive
+1 more
GUncertain significance
GDAP1
Single nucleotide variant
(3 prime UTR variant +1 more)
Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive
+1 more
GUncertain significance
GDAP1
Single nucleotide variant
(3 prime UTR variant +1 more)
Charcot-Marie-Tooth disease recessive intermediate A
+1 more
GBenign
GDAP1
Single nucleotide variant
(3 prime UTR variant +1 more)
Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive
+1 more
GBenign
GDAP1
Single nucleotide variant
(3 prime UTR variant +1 more)
Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive
+1 more
GUncertain significance
GDAP1
Single nucleotide variant
(3 prime UTR variant +1 more)
Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive
+1 more
GUncertain significance
GDAP1
Single nucleotide variant
(3 prime UTR variant +1 more)
Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive
+1 more
GUncertain significance
GDAP1
Single nucleotide variant
(intron variant +1 more)
Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive
+1 more
GBenign
GDAP1
Single nucleotide variant
(3 prime UTR variant +1 more)
Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive
+1 more
GUncertain significance
GDAP1
Single nucleotide variant
(intron variant +1 more)
Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive
+1 more
GBenign
GDAP1
Single nucleotide variant
(intron variant)
Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive
+2 more
GConflicting classifications of pathogenicity
GDAP1
(R125Q +2 more)
Single nucleotide variant
(missense variant +1 more)
Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive
+2 more
GUncertain significance
GDAP1
Single nucleotide variant
(synonymous variant)
not specified
+6 more
GBenign
GDAP1
(R257* +3 more)
Single nucleotide variant
(nonsense +1 more)
Charcot-Marie-Tooth disease recessive intermediate A
+2 more
GPathogenic/Likely pathogenic
GDAP1
Single nucleotide variant
(splice donor variant)
Charcot-Marie-Tooth disease axonal type 2K
+2 more
GPathogenic
GDAP1
(R125* +2 more)
Single nucleotide variant
(nonsense +1 more)
Charcot-Marie-Tooth disease type 4A
+4 more
GPathogenic
GDAP1
(I186V +3 more)
Single nucleotide variant
(missense variant)
not provided
+5 more
GUncertain significance
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