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Links from MedGen

Items: 1 to 100 of 344

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
GDAP1, LOC130000622
Single nucleotide variant
(5 prime UTR variant +2 more)
Charcot-Marie-Tooth disease type 4A
GLikely benign
GDAP1
Single nucleotide variant
(synonymous variant +1 more)
Charcot-Marie-Tooth disease type 4A
GLikely benign
GDAP1, LOC130000622
(A22V)
Single nucleotide variant
(5 prime UTR variant +2 more)
Charcot-Marie-Tooth disease type 4A
GUncertain significance
GDAP1
Single nucleotide variant
(intron variant)
Charcot-Marie-Tooth disease type 4A
GUncertain significance
GDAP1
Single nucleotide variant
(synonymous variant +1 more)
Charcot-Marie-Tooth disease type 4A
GLikely benign
GDAP1
Single nucleotide variant
(synonymous variant +1 more)
Charcot-Marie-Tooth disease type 4A
GLikely benign
GDAP1
Single nucleotide variant
(synonymous variant)
Charcot-Marie-Tooth disease type 4A
GLikely benign
GDAP1
(K145R +3 more)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 4A
GUncertain significance
GDAP1
(H14R +1 more)
Single nucleotide variant
(missense variant +1 more)
Charcot-Marie-Tooth disease type 4A
GUncertain significance
GDAP1
(R91S +2 more)
Single nucleotide variant
(missense variant +1 more)
Charcot-Marie-Tooth disease type 4A
GUncertain significance
GDAP1
(N247S +3 more)
Single nucleotide variant
(missense variant +1 more)
Charcot-Marie-Tooth disease type 4A
GUncertain significance
GDAP1
(R206S +3 more)
Single nucleotide variant
(missense variant +1 more)
Charcot-Marie-Tooth disease type 4A
GUncertain significance
GDAP1
Single nucleotide variant
(synonymous variant)
Charcot-Marie-Tooth disease type 4A
GLikely benign
GDAP1
(E175K +3 more)
Single nucleotide variant
(missense variant +1 more)
Charcot-Marie-Tooth disease type 4A
GUncertain significance
GDAP1
(L130H +3 more)
Single nucleotide variant
(missense variant +1 more)
Charcot-Marie-Tooth disease type 4A
GUncertain significance
GDAP1
(A254T +3 more)
Single nucleotide variant
(missense variant +1 more)
Charcot-Marie-Tooth disease type 4A
GUncertain significance
GDAP1, LOC130000622
Single nucleotide variant
(5 prime UTR variant +2 more)
Charcot-Marie-Tooth disease type 4A
GLikely benign
GDAP1
(A248D +3 more)
Single nucleotide variant
(missense variant +1 more)
Charcot-Marie-Tooth disease type 4A
GUncertain significance
GDAP1
(S150F +2 more)
Single nucleotide variant
(missense variant +1 more)
Charcot-Marie-Tooth disease type 4A
GUncertain significance
GDAP1
Single nucleotide variant
(intron variant)
Charcot-Marie-Tooth disease type 4A
GUncertain significance
GDAP1, LOC130000622
Single nucleotide variant
(5 prime UTR variant +1 more)
Charcot-Marie-Tooth disease type 4A
GLikely benign
GDAP1
Single nucleotide variant
(synonymous variant +1 more)
Charcot-Marie-Tooth disease type 4A
GLikely benign
GDAP1, LOC130000622
(Y29D)
Single nucleotide variant
(5 prime UTR variant +2 more)
Charcot-Marie-Tooth disease type 4A
GUncertain significance
GDAP1
Single nucleotide variant
(intron variant)
Charcot-Marie-Tooth disease type 4A
GLikely benign
GDAP1
Single nucleotide variant
(intron variant)
Charcot-Marie-Tooth disease type 4A
GLikely benign
GDAP1
Single nucleotide variant
(synonymous variant +1 more)
Charcot-Marie-Tooth disease type 4A
GLikely benign
GDAP1
Single nucleotide variant
(synonymous variant)
Charcot-Marie-Tooth disease type 4A
GLikely benign
GDAP1
Single nucleotide variant
(intron variant)
Charcot-Marie-Tooth disease type 4A
GUncertain significance
GDAP1
(A116fs +3 more)
Duplication
(frameshift variant)
Charcot-Marie-Tooth disease type 4A
GPathogenic
GDAP1
Single nucleotide variant
(intron variant)
Charcot-Marie-Tooth disease type 4A
GLikely benign
GDAP1
(K47*)
Single nucleotide variant
(5 prime UTR variant +2 more)
Charcot-Marie-Tooth disease type 4A
GPathogenic
GDAP1
(F180Y +3 more)
Single nucleotide variant
(missense variant +1 more)
Charcot-Marie-Tooth disease type 4A
GUncertain significance
GDAP1, LOC130000622
(A22G)
Single nucleotide variant
(5 prime UTR variant +2 more)
Charcot-Marie-Tooth disease type 4A
GUncertain significance
GDAP1
Single nucleotide variant
(intron variant)
Charcot-Marie-Tooth disease type 4A
GLikely benign
GDAP1
(I231M +3 more)
Single nucleotide variant
(missense variant +1 more)
Charcot-Marie-Tooth disease type 4A
GUncertain significance
GDAP1, LOC130000622
(R4K)
Single nucleotide variant
(5 prime UTR variant +1 more)
Charcot-Marie-Tooth disease type 4A
GUncertain significance
GDAP1, LOC130000622
(S36R)
Single nucleotide variant
(5 prime UTR variant +2 more)
Charcot-Marie-Tooth disease type 4A
GUncertain significance
GDAP1, LOC130000622
Single nucleotide variant
(5 prime UTR variant +2 more)
Charcot-Marie-Tooth disease type 4A
GLikely benign
GDAP1
(T230I +3 more)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 4A
GUncertain significance
GDAP1, LOC130000622
Single nucleotide variant
(5 prime UTR variant +2 more)
Charcot-Marie-Tooth disease type 4A
GLikely benign
GDAP1
(N72S +1 more)
Single nucleotide variant
(missense variant +1 more)
Charcot-Marie-Tooth disease type 4A
GUncertain significance
GDAP1
(P44Q +2 more)
Single nucleotide variant
(missense variant +1 more)
Charcot-Marie-Tooth disease type 4A
GUncertain significance
GDAP1
Single nucleotide variant
(synonymous variant +1 more)
Charcot-Marie-Tooth disease type 4A
GLikely benign
GDAP1
(S57fs)
Duplication
(5 prime UTR variant +3 more)
Charcot-Marie-Tooth disease type 4A
GPathogenic
GDAP1
(I106T +3 more)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 4A
GUncertain significance
GDAP1
(P64fs +2 more)
Deletion
(frameshift variant +1 more)
Charcot-Marie-Tooth disease type 4A
GPathogenic
GDAP1
(M116L +2 more)
Single nucleotide variant
(missense variant +1 more)
Charcot-Marie-Tooth disease type 4A
GUncertain significance
GDAP1
Single nucleotide variant
(intron variant)
Charcot-Marie-Tooth disease type 4A
GLikely benign
GDAP1
(G83fs +1 more)
Deletion
(frameshift variant +1 more)
Charcot-Marie-Tooth disease type 4A
GLikely pathogenic
GDAP1
Single nucleotide variant
(splice acceptor variant +1 more)
Charcot-Marie-Tooth disease type 4A
GLikely pathogenic
LOC130000622, GDAP1
(R9G)
Single nucleotide variant
(5 prime UTR variant +2 more)
Charcot-Marie-Tooth disease type 4A
+1 more
GUncertain significance
GDAP1, LOC130000622
(M1V)
Single nucleotide variant
(5 prime UTR variant +2 more)
Charcot-Marie-Tooth disease type 4A
GPathogenic
GDAP1
Single nucleotide variant
(synonymous variant +1 more)
Charcot-Marie-Tooth disease type 4A
GLikely benign
GDAP1
(W180* +3 more)
Single nucleotide variant
(nonsense +1 more)
Charcot-Marie-Tooth disease type 4A
GPathogenic
GDAP1
Single nucleotide variant
(intron variant)
Charcot-Marie-Tooth disease type 4A
GLikely benign
GDAP1
Single nucleotide variant
(synonymous variant +1 more)
Charcot-Marie-Tooth disease type 4A
GLikely benign
GDAP1, LOC130000622
(L26P)
Single nucleotide variant
(5 prime UTR variant +2 more)
Charcot-Marie-Tooth disease type 4A
GUncertain significance
GDAP1
Single nucleotide variant
(synonymous variant +1 more)
Charcot-Marie-Tooth disease type 4A
GLikely benign
GDAP1
Single nucleotide variant
(intron variant)
Charcot-Marie-Tooth disease type 4A
GLikely benign
GDAP1, LOC130000622
Single nucleotide variant
(intron variant)
Charcot-Marie-Tooth disease type 4A
GLikely benign
GDAP1
Single nucleotide variant
(synonymous variant +1 more)
Charcot-Marie-Tooth disease type 4A
GLikely benign
GDAP1
Single nucleotide variant
(intron variant +1 more)
Charcot-Marie-Tooth disease type 4A
GLikely benign
GDAP1, LOC130000622
Single nucleotide variant
(synonymous variant +2 more)
Charcot-Marie-Tooth disease type 4A
GLikely benign
GDAP1
Duplication
(intron variant)
Charcot-Marie-Tooth disease type 4A
GLikely benign
GDAP1
Single nucleotide variant
(intron variant)
Charcot-Marie-Tooth disease type 4A
GLikely benign
GDAP1
(A116fs +3 more)
Deletion
(frameshift variant)
Charcot-Marie-Tooth disease type 4A
GPathogenic
GDAP1
(H14fs +2 more)
Deletion
(frameshift variant +1 more)
Charcot-Marie-Tooth disease type 4A
GPathogenic
GDAP1
(L12F +1 more)
Single nucleotide variant
(missense variant +1 more)
Charcot-Marie-Tooth disease type 4A
GUncertain significance
GDAP1
(I86K +1 more)
Single nucleotide variant
(missense variant +1 more)
Charcot-Marie-Tooth disease type 4A
+1 more
GUncertain significance
GDAP1
Single nucleotide variant
(intron variant)
Charcot-Marie-Tooth disease type 4A
GLikely benign
GDAP1
(I84M +2 more)
Single nucleotide variant
(missense variant +1 more)
Charcot-Marie-Tooth disease type 4A
GUncertain significance
GDAP1
Single nucleotide variant
(synonymous variant +1 more)
Charcot-Marie-Tooth disease type 4A
GLikely benign
GDAP1
Single nucleotide variant
(synonymous variant +1 more)
Charcot-Marie-Tooth disease type 4A
GLikely benign
GDAP1
(A244fs +3 more)
Deletion
(frameshift variant +1 more)
Charcot-Marie-Tooth disease type 4A
GPathogenic
GDAP1
Single nucleotide variant
(intron variant)
Charcot-Marie-Tooth disease type 4A
GLikely benign
GDAP1, LOC130000622
Single nucleotide variant
(intron variant)
Charcot-Marie-Tooth disease type 4A
GUncertain significance
GDAP1
Single nucleotide variant
(intron variant)
Charcot-Marie-Tooth disease type 4A
GUncertain significance
GDAP1
Single nucleotide variant
(intron variant)
Charcot-Marie-Tooth disease type 4A
GUncertain significance
GDAP1
(R228T +3 more)
Single nucleotide variant
(missense variant +1 more)
Charcot-Marie-Tooth disease type 4A
GUncertain significance
GDAP1
(L60V)
Single nucleotide variant
(5 prime UTR variant +2 more)
Charcot-Marie-Tooth disease type 4A
GUncertain significance
GDAP1, LOC130000622
(M1fs)
Deletion
(5 prime UTR variant +2 more)
Charcot-Marie-Tooth disease type 4A
GPathogenic
GDAP1
Deletion
(splice acceptor variant)
Charcot-Marie-Tooth disease type 4A
GLikely pathogenic
GDAP1
(H82N +1 more)
Single nucleotide variant
(missense variant +1 more)
Charcot-Marie-Tooth disease type 4A
GUncertain significance
GDAP1
Single nucleotide variant
(intron variant)
Charcot-Marie-Tooth disease type 4A
GLikely benign
GDAP1
(D149A +2 more)
Single nucleotide variant
(missense variant +1 more)
Charcot-Marie-Tooth disease type 4A
GUncertain significance
GDAP1
(A241T +3 more)
Single nucleotide variant
(missense variant +1 more)
Charcot-Marie-Tooth disease type 4A
GUncertain significance
GDAP1
Single nucleotide variant
(intron variant)
Charcot-Marie-Tooth disease type 4A
GLikely benign
GDAP1
Single nucleotide variant
(synonymous variant +1 more)
Charcot-Marie-Tooth disease type 4A
GLikely benign
GDAP1
Single nucleotide variant
(intron variant)
Charcot-Marie-Tooth disease type 4A
GLikely benign
GDAP1
Single nucleotide variant
(synonymous variant +1 more)
Charcot-Marie-Tooth disease type 4A
GLikely benign
GDAP1
(W67L)
Single nucleotide variant
(missense variant +2 more)
Charcot-Marie-Tooth disease type 4A
GUncertain significance
GDAP1
(S101F +3 more)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 4A
GUncertain significance
GDAP1, LOC130000622
(H33Y)
Single nucleotide variant
(5 prime UTR variant +2 more)
Inborn genetic diseases
+1 more
GUncertain significance
GDAP1
(T230S +3 more)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 4A
+1 more
GUncertain significance
GDAP1, LOC130000622
(K19E)
Single nucleotide variant
(missense variant +2 more)
Inborn genetic diseases
+2 more
GUncertain significance
GDAP1
(M229I +3 more)
Single nucleotide variant
(missense variant +1 more)
Charcot-Marie-Tooth disease type 4A
+1 more
GUncertain significance
GDAP1
(Q122del +2 more)
Microsatellite
(intron variant +2 more)
Charcot-Marie-Tooth disease type 4A
+1 more
GUncertain significance
GDAP1
(V106F +3 more)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 4A
GUncertain significance
GDAP1
(R156G +3 more)
Single nucleotide variant
(missense variant +1 more)
Charcot-Marie-Tooth disease type 4A
GUncertain significance
GDAP1
(A135G +2 more)
Single nucleotide variant
(missense variant +1 more)
Charcot-Marie-Tooth disease type 4A
GUncertain significance
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