U.S. flag

An official website of the United States government

Format
Items per page
Sort by
Choose Destination

Search results

Items: 58

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
GDAP1, LOC130000622
(M1L)
Single nucleotide variant
(5 prime UTR variant +2 more)
Charcot-Marie-Tooth disease
+1 more
GConflicting classifications of pathogenicity
GDAP1, LOC130000622
(S34fs)
Duplication
(5 prime UTR variant +2 more)
Charcot-Marie-Tooth disease axonal type 2K
+1 more
GUncertain significance
GDAP1, LOC130000622
(S34C)
Single nucleotide variant
(5 prime UTR variant +2 more)
Autosomal dominant Charcot-Marie-Tooth disease type 2K
+1 more
GUncertain significance
LOC130000622, GDAP1
(K39fs)
Deletion
(5 prime UTR variant +2 more)
Charcot-Marie-Tooth disease type 4A
GPathogenic
GDAP1, LOC130000622
(K39N)
Single nucleotide variant
(5 prime UTR variant +2 more)
not provided
GUncertain significance
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
(intron variant)
Inborn genetic diseases
+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
(P111H +2 more)
Single nucleotide variant
(missense variant +1 more)
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
(M116T +2 more)
Single nucleotide variant
(missense variant +1 more)
Charcot-Marie-Tooth disease
+1 more
GUncertain significance
GDAP1
(M116R +2 more)
Single nucleotide variant
(missense variant +1 more)
Charcot-Marie-Tooth disease type 4A
+2 more
GPathogenic
GDAP1
(Y117fs +2 more)
Duplication
(frameshift variant +1 more)
Charcot-Marie-Tooth disease recessive intermediate A
GPathogenic
GDAP1
(R120G +2 more)
Single nucleotide variant
(missense variant +1 more)
Charcot-Marie-Tooth disease
+1 more
GUncertain significance
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
(D129H +2 more)
Single nucleotide variant
(missense 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
(E145fs +2 more)
Deletion
(frameshift variant +1 more)
Charcot-Marie-Tooth disease type 4A
GPathogenic
GDAP1
(T38fs +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)
Peripheral neuropathy
+5 more
GPathogenic/Likely pathogenic
GDAP1
Single nucleotide variant
(splice acceptor variant)
Charcot-Marie-Tooth disease
+1 more
GUncertain significance
GDAP1
(Q163* +3 more)
Single nucleotide variant
(nonsense)
not provided
+4 more
GPathogenic
GDAP1
(E59fs +3 more)
Deletion
(frameshift variant)
not provided
+1 more
GPathogenic
GDAP1
Single nucleotide variant
(synonymous variant)
not provided
+6 more
GBenign
GDAP1
(N178S +3 more)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 4A
GLikely pathogenic
GDAP1
(I128fs +3 more)
Deletion
(frameshift variant)
Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive
GPathogenic
GDAP1
(R191* +3 more)
Single nucleotide variant
(nonsense)
Charcot-Marie-Tooth disease type 4A
GPathogenic/Likely pathogenic
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 type 4A
+2 more
GPathogenic
GDAP1
(V219G +3 more)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease
+1 more
GUncertain significance
GDAP1
(V219D +3 more)
Single nucleotide variant
(missense variant)
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
(L223* +3 more)
Single nucleotide variant
(nonsense)
Charcot-Marie-Tooth disease
+1 more
GUncertain significance
GDAP1
(R226K +3 more)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease
GUncertain significance
GDAP1
(R226S +3 more)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease
+1 more
GUncertain significance
GDAP1
(N227D +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
(L239F +3 more)
Single nucleotide variant
(missense variant +1 more)
Peripheral axonal neuropathy
+11 more
GPathogenic/Likely pathogenic
GDAP1
(A247V +3 more)
Single nucleotide variant
(missense 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 recessive intermediate A
+5 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)
not provided
+2 more
GPathogenic/Likely pathogenic
GDAP1
(G271R +3 more)
Single nucleotide variant
(missense variant +1 more)
Charcot-Marie-Tooth disease type 4A
+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
(Y279C +3 more)
Single nucleotide variant
(missense variant +1 more)
Charcot-Marie-Tooth disease
+1 more
GUncertain significance
GDAP1
Deletion
(nonsense +1 more)
Charcot-Marie-Tooth disease type 4A
+1 more
GPathogenic
GDAP1
(R282H +3 more)
Single nucleotide variant
(missense variant +1 more)
Charcot-Marie-Tooth disease type 4A
+1 more
GPathogenic
GDAP1
(F180fs +3 more)
Duplication
(frameshift variant +1 more)
Charcot-Marie-Tooth disease
GUncertain significance
GDAP1
(N297K +3 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
GDAP1
(R201fs +3 more)
Deletion
(frameshift variant +1 more)
Charcot-Marie-Tooth disease
+1 more
GConflicting classifications of pathogenicity
GDAP1
(R310Q +3 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GPathogenic/Likely pathogenic
GDAP1
(R232fs +3 more)
Duplication
(frameshift variant +1 more)
Inborn genetic diseases
+1 more
GPathogenic/Likely pathogenic
GDAP1
(L344R +3 more)
Single nucleotide variant
(missense variant +1 more)
Charcot-Marie-Tooth disease
+1 more
GUncertain significance
Format
Items per page
Sort by
Choose Destination