U.S. flag

An official website of the United States government

Format
Items per page
Sort by
Choose Destination

Links from MedGen

Items: 78

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
GDAP1
(A135P +2 more)
Single nucleotide variant
(missense variant +1 more)
Charcot-Marie-Tooth disease axonal type 2K
GLikely pathogenic
GDAP1
(E168G +3 more)
Single nucleotide variant
(missense variant +1 more)
Charcot-Marie-Tooth disease axonal type 2K
GUncertain significance
GDAP1
(S193P +3 more)
Single nucleotide variant
(missense variant +1 more)
Charcot-Marie-Tooth disease axonal type 2K
GUncertain significance
GDAP1
(L130P +3 more)
Single nucleotide variant
(missense variant +1 more)
Charcot-Marie-Tooth disease axonal type 2K
GLikely pathogenic
GDAP1
(C131F +3 more)
Single nucleotide variant
(missense variant +1 more)
Charcot-Marie-Tooth disease axonal type 2K
GUncertain significance
GDAP1
(N64S)
Single nucleotide variant
(5 prime UTR variant +2 more)
Charcot-Marie-Tooth disease type 4A
+1 more
GConflicting classifications of pathogenicity
GDAP1
(E65G)
Single nucleotide variant
(5 prime UTR variant +2 more)
Charcot-Marie-Tooth disease axonal type 2K
GUncertain significance
GDAP1
(G224R +3 more)
Single nucleotide variant
(missense variant +1 more)
Charcot-Marie-Tooth disease axonal type 2K
GUncertain significance
GDAP1
(Y117S +2 more)
Single nucleotide variant
(missense variant +1 more)
Charcot-Marie-Tooth disease axonal type 2K
GUncertain significance
GDAP1
(K125* +3 more)
Single nucleotide variant
(nonsense)
Charcot-Marie-Tooth disease type 4A
GPathogenic
GDAP1
(D81G +2 more)
Single nucleotide variant
(missense variant +1 more)
Charcot-Marie-Tooth disease type 4A
GUncertain significance
GDAP1
(S61N)
Single nucleotide variant
(5 prime UTR variant +2 more)
Charcot-Marie-Tooth disease type 4A
+1 more
GUncertain significance
GDAP1
(K47fs)
Deletion
(5 prime UTR variant +3 more)
Charcot-Marie-Tooth disease axonal type 2K
GPathogenic
GDAP1
(N133S +3 more)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease axonal type 2K
GUncertain significance
GDAP1
(R168del +3 more)
Microsatellite
(inframe_deletion)
Charcot-Marie-Tooth disease type 4A
+1 more
GConflicting classifications of pathogenicity
GDAP1
(P238L +3 more)
Single nucleotide variant
(missense variant +1 more)
Charcot-Marie-Tooth disease axonal type 2K
GLikely pathogenic
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 recessive intermediate A
+5 more
GBenign
GDAP1
(G241S +3 more)
Single nucleotide variant
(missense variant +1 more)
Charcot-Marie-Tooth disease type 4A
+4 more
GUncertain significance
GDAP1
(N227D +3 more)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease
+1 more
GUncertain significance
GDAP1, LOC130000622
(S34fs)
Duplication
(5 prime UTR variant +2 more)
Charcot-Marie-Tooth disease axonal type 2K
+1 more
GUncertain significance
GDAP1
(R201fs +3 more)
Deletion
(frameshift variant +1 more)
Charcot-Marie-Tooth disease
+1 more
GConflicting classifications of pathogenicity
GDAP1
(L223* +3 more)
Single nucleotide variant
(nonsense)
Charcot-Marie-Tooth disease
+1 more
GUncertain significance
GDAP1
Single nucleotide variant
(splice acceptor variant)
Charcot-Marie-Tooth disease
+1 more
GUncertain significance
GDAP1
(P111H +2 more)
Single nucleotide variant
(missense variant +1 more)
Charcot-Marie-Tooth disease
+1 more
GUncertain significance
GDAP1
(R226K +3 more)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease
GUncertain significance
GDAP1
(P59fs)
Indel
(5 prime UTR variant +2 more)
Charcot-Marie-Tooth disease type 4A
GPathogenic
GDAP1
(A247V +3 more)
Single nucleotide variant
(missense variant +1 more)
Charcot-Marie-Tooth disease
+1 more
GUncertain significance
LOC130000622, GDAP1
(K39fs)
Deletion
(5 prime UTR variant +2 more)
Charcot-Marie-Tooth disease type 4A
GPathogenic
GDAP1, LOC130000622
(M1L)
Single nucleotide variant
(5 prime UTR variant +2 more)
Charcot-Marie-Tooth disease
+1 more
GConflicting classifications of pathogenicity
GDAP1
(N178S +3 more)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 4A
GLikely pathogenic
GDAP1
(V219G +3 more)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease
+1 more
GUncertain significance
GDAP1
(E5fs +2 more)
Microsatellite
(frameshift variant +1 more)
Charcot-Marie-Tooth disease
+1 more
GUncertain significance
GDAP1
(S130C +2 more)
Single nucleotide variant
(missense variant +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
Deletion
(nonsense +1 more)
Charcot-Marie-Tooth disease type 4A
+1 more
GPathogenic
GDAP1
(I128fs +3 more)
Deletion
(frameshift variant)
Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive
GPathogenic
GDAP1
(L344R +3 more)
Single nucleotide variant
(missense variant +1 more)
Charcot-Marie-Tooth disease
+1 more
GUncertain significance
GDAP1
Single nucleotide variant
(intron variant)
Inborn genetic diseases
+1 more
GUncertain significance
GDAP1
(Y117fs +2 more)
Duplication
(frameshift variant +1 more)
Charcot-Marie-Tooth disease recessive intermediate A
GPathogenic
GDAP1, LOC130000622
(K39N)
Single nucleotide variant
(5 prime UTR variant +2 more)
not provided
GUncertain significance
GDAP1
(Y279C +3 more)
Single nucleotide variant
(missense 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
(D129H +2 more)
Single nucleotide variant
(missense variant +1 more)
Charcot-Marie-Tooth disease
+1 more
GUncertain significance
GDAP1
(R120G +2 more)
Single nucleotide variant
(missense variant +1 more)
Charcot-Marie-Tooth disease
+1 more
GUncertain significance
GDAP1
(E222K +3 more)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease
+1 more
GUncertain significance
GDAP1
(R273G +3 more)
Single nucleotide variant
(missense variant +1 more)
Charcot-Marie-Tooth disease type 4A
+1 more
GUncertain significance
GDAP1
(H256R +3 more)
Single nucleotide variant
(missense variant +1 more)
Charcot-Marie-Tooth disease recessive intermediate A
+5 more
GPathogenic
ELOC, GDAP1
+19 more
Deletion
Charcot-Marie-Tooth disease axonal type 2K
GUncertain significance
GDAP1
(G271R +3 more)
Single nucleotide variant
(missense variant +1 more)
Charcot-Marie-Tooth disease type 4A
+2 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
GDAP1
(R310Q +3 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GPathogenic
Charcot-Marie-Tooth disease axonal type 2K
+3 more
GPathogenic
GDAP1
(R232fs +3 more)
Duplication
(frameshift variant +1 more)
Inborn genetic diseases
+1 more
GPathogenic/Likely pathogenic
GDAP1
(K193fs +3 more)
Deletion
(frameshift variant)
Charcot-Marie-Tooth disease type 4A
GPathogenic
GDAP1
(P153L +2 more)
Single nucleotide variant
(missense variant +1 more)
Peripheral neuropathy
+5 more
GPathogenic/Likely pathogenic
GDAP1
(E59fs +3 more)
Deletion
(frameshift variant)
not provided
+1 more
GPathogenic
GDAP1
Single nucleotide variant
(synonymous variant)
not provided
+6 more
GBenign
GDAP1
Deletion
(intron variant)
Charcot-Marie-Tooth with Vocal Cord Paresis
+6 more
GConflicting classifications of pathogenicity
GDAP1
Single nucleotide variant
(splice donor variant)
Charcot-Marie-Tooth disease type 4A
+2 more
GPathogenic
JPH1
(R213P)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease axonal type 2K
GBenign
GDAP1
(R125* +2 more)
Single nucleotide variant
(nonsense +1 more)
Charcot-Marie-Tooth disease recessive intermediate A
+4 more
GPathogenic
GDAP1
(I186V +3 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+5 more
GUncertain significance
GDAP1
(P274L +3 more)
Single nucleotide variant
(missense variant +1 more)
Charcot-Marie-Tooth disease axonal type 2K
GConflicting classifications of pathogenicity
GDAP1
(H123R +2 more)
Single nucleotide variant
(missense variant +1 more)
Charcot-Marie-Tooth disease type 4A
+2 more
GPathogenic/Likely pathogenic
GDAP1
(A156G +2 more)
Single nucleotide variant
(missense variant +1 more)
Charcot-Marie-Tooth disease type 4A
GPathogenic
GDAP1
(G327D +3 more)
Single nucleotide variant
(missense variant +1 more)
Charcot-Marie-Tooth disease type 4A
+1 more
GPathogenic/Likely pathogenic
GDAP1
(M116R +2 more)
Single nucleotide variant
(missense variant +1 more)
Charcot-Marie-Tooth disease type 4A
+2 more
GPathogenic
GDAP1
(R226S +3 more)
Single nucleotide variant
(missense variant)
Autosomal dominant Charcot-Marie-Tooth disease type 2K
+1 more
GConflicting classifications of pathogenicity
GDAP1
(C240Y +3 more)
Single nucleotide variant
(missense variant +1 more)
Autosomal dominant Charcot-Marie-Tooth disease type 2K
+1 more
GConflicting classifications of pathogenicity
GDAP1
(P231L +3 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GPathogenic/Likely pathogenic
GDAP1
(Q218E +3 more)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease axonal type 2K
+1 more
GConflicting classifications of pathogenicity
GDAP1
(L239F +3 more)
Single nucleotide variant
(missense variant +1 more)
Peripheral axonal neuropathy
+11 more
GPathogenic/Likely pathogenic
GDAP1
(T157P +2 more)
Single nucleotide variant
(missense variant +1 more)
Charcot-Marie-Tooth disease type 4A
GPathogenic
GDAP1
(R120W +2 more)
Single nucleotide variant
(missense variant +1 more)
Charcot-Marie-Tooth disease
+5 more
GPathogenic
GDAP1
(R282C +3 more)
Single nucleotide variant
(missense variant +1 more)
Charcot-Marie-Tooth disease recessive intermediate A
+4 more
GPathogenic
GDAP1
(Q163* +3 more)
Single nucleotide variant
(nonsense)
not provided
+4 more
GPathogenic
GDAP1
(S194* +3 more)
Single nucleotide variant
(nonsense)
not provided
+4 more
GPathogenic
Format
Items per page
Sort by
Choose Destination