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Items: 45

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
GDAP1, LOC130000622
(W31*)
Single nucleotide variant
(5 prime UTR variant +2 more)
Charcot-Marie-Tooth disease type 4A
GConflicting classifications of pathogenicity
GDAP1, LOC130000622
(K39fs)
Deletion
(frameshift variant +2 more)
Charcot-Marie-Tooth disease type 4A
GPathogenic
GDAP1
(P59fs)
Indel
(5 prime UTR variant +2 more)
Charcot-Marie-Tooth disease
+1 more
GUncertain significance
GDAP1
(P59fs)
Indel
(5 prime UTR variant +2 more)
Charcot-Marie-Tooth disease type 4A
GPathogenic
GDAP1
(P78L +1 more)
Single nucleotide variant
(missense variant +1 more)
Charcot-Marie-Tooth disease
+1 more
GUncertain significance
GDAP1
(Q99* +1 more)
Single nucleotide variant
(nonsense +1 more)
Charcot-Marie-Tooth disease
+1 more
GUncertain significance
GDAP1
Single nucleotide variant
(splice acceptor variant +1 more)
Charcot-Marie-Tooth disease type 4A
+2 more
GPathogenic/Likely pathogenic
GDAP1
(M116T +2 more)
Single nucleotide variant
(missense variant +1 more)
Charcot-Marie-Tooth disease type 4A
+1 more
GUncertain significance
GDAP1
(M116R +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GPathogenic
GDAP1
(R120W +2 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+5 more
GPathogenic
GDAP1
(R120Q +2 more)
Single nucleotide variant
(missense variant +1 more)
Charcot-Marie-Tooth disease
+1 more
GUncertain significance
GDAP1
(Q122K +2 more)
Single nucleotide variant
(missense variant +1 more)
Charcot-Marie-Tooth disease
+1 more
GUncertain significance
GDAP1
(H123R +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GPathogenic/Likely pathogenic
GDAP1
(R125* +2 more)
Single nucleotide variant
(nonsense +1 more)
not provided
+4 more
GPathogenic
GDAP1
(E145fs +2 more)
Deletion
(frameshift variant +1 more)
Charcot-Marie-Tooth disease
+1 more
GUncertain significance
GDAP1
(D149Y +2 more)
Single nucleotide variant
(missense variant +1 more)
Charcot-Marie-Tooth disease type 4A
GPathogenic
GDAP1
(P153L +2 more)
Single nucleotide variant
(missense variant +1 more)
Charcot-Marie-Tooth disease type 4A
+4 more
GPathogenic/Likely pathogenic
GDAP1
(A156G +2 more)
Single nucleotide variant
(missense variant +1 more)
Charcot-Marie-Tooth disease type 4A
GPathogenic
GDAP1
(T157P +2 more)
Single nucleotide variant
(missense variant +1 more)
Charcot-Marie-Tooth disease type 4A
GPathogenic
GDAP1
(R161H +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GPathogenic/Likely pathogenic
GDAP1
(Q163* +3 more)
Single nucleotide variant
(nonsense)
Charcot-Marie-Tooth disease recessive intermediate A
+4 more
GPathogenic
GDAP1
(E59fs +3 more)
Deletion
(frameshift variant)
not provided
+1 more
GPathogenic
GDAP1
Single nucleotide variant
(synonymous variant)
Charcot-Marie-Tooth disease type 4A
+6 more
GBenign
GDAP1
(N178S +3 more)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 4A
GLikely pathogenic
GDAP1
(R191* +3 more)
Single nucleotide variant
(nonsense)
Charcot-Marie-Tooth disease type 4A
GPathogenic/Likely pathogenic
GDAP1
(K125* +3 more)
Single nucleotide variant
(nonsense)
Charcot-Marie-Tooth disease type 4A
GPathogenic
GDAP1
(K193fs +3 more)
Deletion
(frameshift variant)
Charcot-Marie-Tooth disease type 4A
GPathogenic
GDAP1
Single nucleotide variant
(splice donor variant)
Charcot-Marie-Tooth disease
+2 more
GPathogenic
GDAP1
(S194* +3 more)
Single nucleotide variant
(nonsense)
Charcot-Marie-Tooth disease recessive intermediate A
+4 more
GPathogenic
GDAP1
(Q218E +3 more)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 4A
+1 more
GConflicting classifications of pathogenicity
GDAP1
(V219D +3 more)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease
+1 more
GUncertain significance
GDAP1
(P231L +3 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GPathogenic/Likely pathogenic
GDAP1
(W180* +3 more)
Single nucleotide variant
(nonsense +1 more)
Charcot-Marie-Tooth disease type 4A
GPathogenic
GDAP1
(L239F +3 more)
Single nucleotide variant
(missense variant +1 more)
GDAP1-Related Disorders
+11 more
GPathogenic/Likely pathogenic
GDAP1
(H256R +3 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+4 more
GPathogenic
GDAP1
(R257* +3 more)
Single nucleotide variant
(nonsense +1 more)
not provided
+2 more
GPathogenic/Likely pathogenic
GDAP1
(F195fs +3 more)
Deletion
(frameshift variant +1 more)
Charcot-Marie-Tooth disease type 4A
+2 more
GPathogenic/Likely pathogenic
GDAP1
(G271R +3 more)
Single nucleotide variant
(missense variant +1 more)
Charcot-Marie-Tooth disease
+2 more
GConflicting classifications of pathogenicity
GDAP1
(R273G +3 more)
Single nucleotide variant
(missense variant +1 more)
Charcot-Marie-Tooth disease type 4A
+1 more
GUncertain significance
GDAP1
Deletion
(nonsense +1 more)
Charcot-Marie-Tooth disease type 4A
GPathogenic
GDAP1
(R282C +3 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+4 more
GPathogenic
GDAP1
(N297K +3 more)
Single nucleotide variant
(missense variant +1 more)
Charcot-Marie-Tooth disease
+1 more
GUncertain significance
GDAP1
(R310Q +3 more)
Single nucleotide variant
(missense variant +1 more)
Charcot-Marie-Tooth disease type 4A
+1 more
GPathogenic
GDAP1
(G327D +3 more)
Single nucleotide variant
(missense variant +1 more)
Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive
+1 more
GPathogenic/Likely pathogenic
GDAP1
(R232fs +3 more)
Duplication
(frameshift variant +1 more)
Inborn genetic diseases
+1 more
GConflicting classifications of pathogenicity
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