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Items: 14

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
GDAP1, LOC130000622
(A2G)
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
+1 more
GUncertain significance
GDAP1, LOC130000622
(K39N)
Single nucleotide variant
(5 prime UTR variant +2 more)
not provided
GUncertain significance
GDAP1
(S57R)
Single nucleotide variant
(5 prime UTR variant +2 more)
Charcot-Marie-Tooth disease type 4A
+1 more
GConflicting classifications of pathogenicity
GDAP1
(R2L +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
GDAP1
(G83A +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+2 more
GUncertain significance
GDAP1
(D103G +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
GDAP1
(M133V +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
GDAP1
(M133I +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
+3 more
GConflicting classifications of pathogenicity
GDAP1
(I186V +3 more)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive
+5 more
GUncertain significance
GDAP1
Single nucleotide variant
(splice donor variant)
not provided
+2 more
GPathogenic/Likely pathogenic
GDAP1
Single nucleotide variant
(intron variant)
Charcot-Marie-Tooth disease type 4A
+2 more
GUncertain significance
GDAP1
(R310Q +3 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GPathogenic/Likely pathogenic
GDAP1
(T322M +3 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+5 more
GConflicting classifications of pathogenicity
GDAP1
(A336S +3 more)
Single nucleotide variant
(missense variant +1 more)
Charcot-Marie-Tooth disease axonal type 2K
+4 more
GUncertain significance
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