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Items: 94

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LMNA
(R435C +2 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+6 more
GConflicting classifications of pathogenicity
NTRK1
Single nucleotide variant
(splice acceptor variant)
Charcot-Marie-Tooth disease
GUncertain significance
MPZ
(D224Y)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GPathogenic/Likely pathogenic
MPZ
(P217S)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease
GUncertain significance
MPZ
Single nucleotide variant
(splice donor variant)
Charcot-Marie-Tooth disease
GUncertain significance
MPZ
(G167R)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease, type I
GPathogenic
MPZ
(G163R)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease, type I
GPathogenic
MPZ
(G163R)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GPathogenic/Likely pathogenic
MPZ
(T124M)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+9 more
GPathogenic
MPZ
(N116S)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+3 more
GUncertain significance
MPZ
(V113F)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease, type I
+1 more
GUncertain significance
MPZ
(D104fs)
Deletion
(frameshift variant)
Charcot-Marie-Tooth disease, type I
+1 more
GPathogenic/Likely pathogenic
MPZ
(Y82H)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease, type I
+4 more
GPathogenic/Likely pathogenic
MPZ
(H81R)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease, type I
+1 more
GPathogenic
MPZ
(H81Y)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease, type I
GLikely pathogenic
MPZ
(D61N)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease, type I
+1 more
GPathogenic
MPZ
(S55I)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease
GUncertain significance
MPZ
(S44F)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease
+3 more
GPathogenic
SH3TC2
(R1109*)
Single nucleotide variant
(nonsense)
Susceptibility to mononeuropathy of the median nerve, mild
+4 more
GPathogenic
SH3TC2
(R954*)
Single nucleotide variant
(nonsense)
Charcot-Marie-Tooth disease type 4
+8 more
GPathogenic/Likely pathogenic
SH3TC2
(R658C)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+5 more
GPathogenic/Likely pathogenic
SH3TC2
(E657K)
Single nucleotide variant
(missense variant)
Susceptibility to mononeuropathy of the median nerve, mild
+2 more
GPathogenic/Likely pathogenic
SH3TC2
Single nucleotide variant
(splice acceptor variant)
Charcot-Marie-Tooth disease
+1 more
GConflicting classifications of pathogenicity
SH3TC2
(Y169H)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 4
+13 more
GConflicting classifications of pathogenicity
SH3TC2
Deletion
(frameshift variant)
Charcot-Marie-Tooth disease
GUncertain significance
GARS1
(A111V +1 more)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 2
GUncertain significance
GARS1
(E71G +1 more)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease
+2 more
GConflicting classifications of pathogenicity
GARS1
(L129P +1 more)
Single nucleotide variant
(missense variant)
not provided
GPathogenic
GARS1
(G240R +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic
GARS1
(I334F +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic
GARS1
(H472R +1 more)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 2
+1 more
GPathogenic
GARS1
(D500N +1 more)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 2D
+2 more
GConflicting classifications of pathogenicity
NEFL
(N98S)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease, dominant intermediate G
+6 more
GPathogenic/Likely pathogenic
NEFL
(P8R)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GPathogenic/Likely pathogenic
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
(H123R +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GPathogenic/Likely pathogenic
GDAP1
(T157P +2 more)
Single nucleotide variant
(missense variant +1 more)
Charcot-Marie-Tooth disease type 4A
GPathogenic
GDAP1
(Q163* +3 more)
Single nucleotide variant
(nonsense)
Charcot-Marie-Tooth disease recessive intermediate A
+4 more
GPathogenic
GDAP1
(L239F +3 more)
Single nucleotide variant
(missense variant +1 more)
GDAP1-Related Disorders
+11 more
GPathogenic/Likely pathogenic
SPTLC1
(G387A +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+4 more
GBenign/Likely benign
SPTLC1
(V144D +1 more)
Single nucleotide variant
(missense variant +1 more)
Charcot-Marie-Tooth disease
+4 more
GPathogenic/Likely pathogenic
SPTLC1
(C133W)
Single nucleotide variant
(missense variant +1 more)
Hereditary sensory and autonomic neuropathy type 1
+1 more
GPathogenic
SPTLC1
(C133Y)
Single nucleotide variant
(5 prime UTR variant +1 more)
Inborn genetic diseases
+1 more
GPathogenic
ELP1
Single nucleotide variant
(intron variant)
Familial dysautonomia
+3 more
GPathogenic
ELP1
(R696P +2 more)
Single nucleotide variant
(missense variant)
Familial dysautonomia
+2 more
GPathogenic/Likely pathogenic
SETX
(E65K)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease
GUncertain significance
EGR2
(T387N +1 more)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease, type I
GUncertain significance
EGR2
(R381H +1 more)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease, type I
+2 more
GPathogenic
EGR2
(R359Q +1 more)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease, type I
GPathogenic
EGR2
(R359W +1 more)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease, type I
+2 more
GPathogenic
BSCL2, HNRNPUL2-BSCL2
(S154W +1 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
Charcot-Marie-Tooth disease type 2
GPathogenic
FGD4
(M298R +5 more)
Single nucleotide variant
(missense variant +1 more)
Charcot-Marie-Tooth disease type 4
GPathogenic
FGD4
(M298T +5 more)
Single nucleotide variant
(missense variant +1 more)
Charcot-Marie-Tooth disease
+1 more
GConflicting classifications of pathogenicity
FGD4
(R442H +6 more)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease
+1 more
GUncertain significance
FGD4
Single nucleotide variant
(splice acceptor variant)
Charcot-Marie-Tooth disease
+1 more
GConflicting classifications of pathogenicity
TRPV4
(V560I +3 more)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease
+3 more
GPathogenic/Likely pathogenic
TRPV4
(Y520* +3 more)
Single nucleotide variant
(nonsense)
Inborn genetic diseases
+2 more
GUncertain significance
TRPV4
(R316H +2 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic/Likely pathogenic
TRPV4
(R316C +2 more)
Single nucleotide variant
(missense variant)
not provided
+4 more
GPathogenic
TRPV4
(R269H +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+14 more
GPathogenic/Likely pathogenic
TRPV4
(R232C +1 more)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease
+2 more
GPathogenic
TRPV4
(E218K +1 more)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease
GUncertain significance
TRPV4
(A217S +1 more)
Single nucleotide variant
(missense variant)
TRPV4-related condition
+10 more
GBenign
SLC12A6
Deletion
(splice donor variant)
not provided
+1 more
GPathogenic
LITAF
(P135R)
Single nucleotide variant
(missense variant +2 more)
Charcot-Marie-Tooth disease
GUncertain significance
LITAF
(P135S)
Single nucleotide variant
(missense variant +2 more)
Charcot-Marie-Tooth disease
GUncertain significance
LITAF
(P135T)
Single nucleotide variant
(missense variant +2 more)
Charcot-Marie-Tooth disease type 1C
GPathogenic
LITAF
(A129T)
Single nucleotide variant
(missense variant +2 more)
Charcot-Marie-Tooth disease type 1C
GUncertain significance
LITAF
(G112S)
Single nucleotide variant
(missense variant +1 more)
Charcot-Marie-Tooth disease
+3 more
GPathogenic
LITAF
(A111G)
Single nucleotide variant
(missense variant +1 more)
Charcot-Marie-Tooth disease
+1 more
GPathogenic
PMP22
(R157W)
Single nucleotide variant
(missense variant +1 more)
Charcot-Marie-Tooth disease, type I
+3 more
GConflicting classifications of pathogenicity
PMP22
(T118M)
Single nucleotide variant
(missense variant +1 more)
Charcot-Marie-Tooth disease, type I
+5 more
GConflicting classifications of pathogenicity
PMP22
(Y97fs)
Deletion
(frameshift variant +1 more)
Charcot-Marie-Tooth disease
GUncertain significance
PMP22
(R95fs)
Duplication
(frameshift variant +1 more)
Charcot-Marie-Tooth disease
+2 more
GPathogenic/Likely pathogenic
PMP22
(W39C)
Single nucleotide variant
(missense variant +1 more)
Charcot-Marie-Tooth disease
GUncertain significance
CTDP1
Single nucleotide variant
(intron variant)
not provided
GPathogenic
PRX
(C715*)
Single nucleotide variant
(3 prime UTR variant +1 more)
Inborn genetic diseases
+4 more
GPathogenic/Likely pathogenic
PRX
(A700fs)
Deletion
(3 prime UTR variant +1 more)
Charcot-Marie-Tooth disease
GUncertain significance
PRX
(D651N)
Single nucleotide variant
(3 prime UTR variant +1 more)
Inborn genetic diseases
+1 more
GUncertain significance
GJB1
(R15W)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease
+2 more
GPathogenic
GJB1
(E41D)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease
GUncertain significance
GJB1
(S49P)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease
GUncertain significance
GJB1
(T55I)
Single nucleotide variant
(missense variant)
not provided
+2 more
GPathogenic/Likely pathogenic
GJB1
(V63I)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic
GJB1
(R75W)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+3 more
GPathogenic/Likely pathogenic
GJB1
(L76fs)
Deletion
(frameshift variant)
Charcot-Marie-Tooth disease
+1 more
GUncertain significance
GJB1
(V139M)
Single nucleotide variant
(missense variant)
not provided
+3 more
GPathogenic
GJB1
(C179Y)
Single nucleotide variant
(missense variant)
not provided
GLikely pathogenic
GJB1
(E186K)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+3 more
GPathogenic
GJB1
(F235C)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth Neuropathy X
+4 more
GConflicting classifications of pathogenicity
ATP7A
(T994I +1 more)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease
+1 more
GConflicting classifications of pathogenicity
ATP7A
(P1386S +1 more)
Single nucleotide variant
(missense variant +1 more)
Cutis laxa, X-linked
+2 more
GPathogenic
MT-ATP6
Single nucleotide variant
Mitochondrial disease
GPathogenic
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