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Items: 1 to 100 of 156

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
GAPDH, GAU1
+477 more
Deletion
Tumoral calcinosis, hyperphosphatemic, familial, 1
Gnot provided
ACRBP, ADIPOR2
+348 more
Copy number gain
See cases
GPathogenic
TAS2R9, TEAD4
+1258 more
Copy number gain
See cases
GPathogenic
CLEC12A, CLEC12A-AS1
+1258 more
Copy number gain
See cases
GPathogenic
LOC126861410, LOC126861411
+1258 more
Copy number gain
See cases
GPathogenic
A2M, A2M-AS1
+1009 more
Copy number gain
See cases
GPathogenic
LOC130007230, LOC130007231
+1257 more
Copy number gain
See cases
GPathogenic
LOC130008916, LOC130008917
+4836 more
Copy number gain
See cases
GPathogenic
LOC126861494, LOC126861495
+1257 more
Copy number gain
See cases
GPathogenic
CACNA1C-AS2, CACNA1C-AS4
+1242 more
Copy number gain
See cases
GPathogenic
A2M, A2M-AS1
+853 more
Copy number gain
See cases
GPathogenic
LOC130007190, LOC130007191
+698 more
Copy number gain
See cases
GPathogenic
LOC130007245, TAPBPL
+1 more
Deletion
Spastic paraplegia
GPathogenic
TAPBPL, VAMP1
(R115W)
Single nucleotide variant
(3 prime UTR variant +2 more)
not provided
GBenign/Likely benign
TAPBPL, VAMP1
Single nucleotide variant
(3 prime UTR variant +1 more)
Spastic ataxia 1
+2 more
GBenign
TAPBPL, VAMP1
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
GBenign
TAPBPL, VAMP1
(T118I)
Single nucleotide variant
(missense variant +2 more)
Spastic paraplegia
GUncertain significance
TAPBPL, VAMP1
Single nucleotide variant
(synonymous variant +2 more)
Spastic paraplegia
GLikely benign
VAMP1, TAPBPL
(F116L)
Single nucleotide variant
(missense variant +2 more)
Spastic paraplegia
GUncertain significance
TAPBPL, VAMP1
(I114T)
Single nucleotide variant
(missense variant +2 more)
Spastic paraplegia
GUncertain significance
TAPBPL, VAMP1
Single nucleotide variant
(3 prime UTR variant +2 more)
Spastic paraplegia
+1 more
GUncertain significance
TAPBPL, VAMP1
Single nucleotide variant
(intron variant +1 more)
Spastic paraplegia
GLikely benign
TAPBPL, VAMP1
Deletion
(3 prime UTR variant +1 more)
Spastic paraplegia
GLikely benign
TAPBPL, VAMP1
Single nucleotide variant
(3 prime UTR variant +1 more)
Spastic paraplegia
GUncertain significance
TAPBPL, VAMP1
Single nucleotide variant
(3 prime UTR variant +1 more)
Spastic paraplegia
GLikely benign
TAPBPL, VAMP1
Indel
(intron variant +1 more)
Spastic paraplegia
GLikely benign
TAPBPL, VAMP1
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
GBenign
TAPBPL, VAMP1
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
GBenign
TAPBPL, VAMP1
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
GBenign
TAPBPL, VAMP1
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
GBenign
TAPBPL, VAMP1
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
GBenign
TAPBPL, VAMP1
Single nucleotide variant
(3 prime UTR variant +1 more)
Spastic paraplegia
GLikely benign
TAPBPL, VAMP1
Single nucleotide variant
(3 prime UTR variant +1 more)
Spastic paraplegia
GLikely benign
TAPBPL, VAMP1
Single nucleotide variant
(stop lost +1 more)
Spastic paraplegia
GLikely benign
TAPBPL, VAMP1
(R117H)
Single nucleotide variant
(missense variant +1 more)
Spastic paraplegia
GLikely benign
TAPBPL, VAMP1
(R117C)
Single nucleotide variant
(missense variant +1 more)
Spastic paraplegia
GLikely benign
TAPBPL, VAMP1
(S114R)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GPathogenic
TAPBPL, VAMP1
(S114R)
Single nucleotide variant
(splice donor variant +1 more)
not provided
+1 more
GPathogenic
TAPBPL, VAMP1
(R114fs +2 more)
Deletion
(frameshift variant +1 more)
Spastic paraplegia
+3 more
GPathogenic/Likely pathogenic
TAPBPL, VAMP1
(R114fs +2 more)
Duplication
(frameshift variant +1 more)
Spastic paraplegia
GUncertain significance
TAPBPL, VAMP1
(V113G)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
TAPBPL, VAMP1
Single nucleotide variant
(synonymous variant +1 more)
Spastic paraplegia
GLikely benign
TAPBPL, VAMP1
(I112T)
Single nucleotide variant
(missense variant +1 more)
Spastic paraplegia
+1 more
GUncertain significance
TAPBPL, VAMP1
(V109M)
Single nucleotide variant
(missense variant +1 more)
Spastic paraplegia
GUncertain significance
TAPBPL, VAMP1
Single nucleotide variant
(synonymous variant +1 more)
Spastic paraplegia
GUncertain significance
TAPBPL, VAMP1
(C105*)
Single nucleotide variant
(nonsense +1 more)
Spastic paraplegia
+1 more
GConflicting classifications of pathogenicity
TAPBPL, VAMP1
(I104T)
Single nucleotide variant
(missense variant +1 more)
Spastic paraplegia
GUncertain significance
TAPBPL, VAMP1
(A103T)
Single nucleotide variant
(missense variant +1 more)
Spastic paraplegia
GUncertain significance
TAPBPL, VAMP1
(M100T)
Single nucleotide variant
(missense variant +1 more)
Spastic paraplegia
+1 more
GUncertain significance
TAPBPL, VAMP1
(M97I)
Single nucleotide variant
(missense variant +1 more)
Spastic paraplegia
GUncertain significance
TAPBPL, VAMP1
Single nucleotide variant
(intron variant)
Spastic paraplegia
GLikely benign
TAPBPL, VAMP1
Single nucleotide variant
(intron variant)
Spastic paraplegia
GBenign
TAPBPL, VAMP1
Single nucleotide variant
(intron variant)
Spastic paraplegia
GLikely benign
TAPBPL, VAMP1
Single nucleotide variant
(intron variant)
Spastic paraplegia
GLikely benign
TAPBPL, VAMP1
Single nucleotide variant
(intron variant)
not provided
GBenign
TAPBPL, VAMP1
Single nucleotide variant
(intron variant)
Spastic paraplegia
GLikely benign
TAPBPL, VAMP1
Single nucleotide variant
(intron variant)
Spastic paraplegia
GBenign
TAPBPL, VAMP1
Single nucleotide variant
(intron variant)
Spastic paraplegia
GLikely benign
TAPBPL, VAMP1
(R88K)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
TAPBPL, VAMP1
Single nucleotide variant
(synonymous variant +1 more)
Spastic paraplegia
GLikely benign
TAPBPL, VAMP1
Single nucleotide variant
(synonymous variant +1 more)
Myasthenic syndrome, congenital, 25, presynaptic
+4 more
GBenign
TAPBPL, VAMP1
(Q78fs)
Microsatellite
(frameshift variant +1 more)
not provided
GUncertain significance
VAMP1, TAPBPL
(S77L)
Single nucleotide variant
(missense variant +1 more)
VAMP1-related disorder
GUncertain significance
TAPBPL, VAMP1
(S77*)
Single nucleotide variant
(nonsense +1 more)
not provided
GLikely pathogenic
TAPBPL, VAMP1
Single nucleotide variant
(synonymous variant +1 more)
Spastic paraplegia
GLikely benign
TAPBPL, VAMP1
(R68Q)
Single nucleotide variant
(missense variant +1 more)
Spastic paraplegia
+1 more
GUncertain significance
TAPBPL, VAMP1
Single nucleotide variant
(synonymous variant +1 more)
Spastic paraplegia
GLikely benign
TAPBPL, VAMP1
Single nucleotide variant
(synonymous variant +1 more)
Spastic paraplegia
GLikely benign
TAPBPL, VAMP1
(R58G)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
TAPBPL, VAMP1
(D53E)
Single nucleotide variant
(missense variant +1 more)
Spastic paraplegia
GUncertain significance
TAPBPL, VAMP1
(N51fs)
Duplication
(frameshift variant +1 more)
Spastic ataxia 1
GLikely pathogenic
TAPBPL, VAMP1
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
TAPBPL, VAMP1
(R49H)
Single nucleotide variant
(missense variant +1 more)
Spastic paraplegia
GUncertain significance
VAMP1, TAPBPL
(R49P)
Single nucleotide variant
(missense variant +1 more)
Myasthenic syndrome, congenital, 25, presynaptic
+1 more
GPathogenic
TAPBPL, VAMP1
Single nucleotide variant
(intron variant)
Spastic paraplegia
GUncertain significance
VAMP1, TAPBPL
Single nucleotide variant
(intron variant)
Spastic paraplegia
GLikely benign
TAPBPL, VAMP1
Single nucleotide variant
(intron variant)
Spastic ataxia 1
+2 more
GBenign
TAPBPL, VAMP1
Deletion
(intron variant)
not provided
GBenign
TAPBPL, VAMP1
Single nucleotide variant
(intron variant)
Spastic paraplegia
GLikely benign
TAPBPL, VAMP1
Single nucleotide variant
(splice donor variant)
Myasthenic syndrome, congenital, 25, presynaptic
GPathogenic
TAPBPL, VAMP1
(E43D)
Single nucleotide variant
(missense variant)
Spastic paraplegia
GUncertain significance
TAPBPL, VAMP1
(E43fs)
Deletion
(frameshift variant)
Myasthenic syndrome, congenital, 25, presynaptic
GPathogenic
TAPBPL, VAMP1
(V41E)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TAPBPL, VAMP1
Single nucleotide variant
(synonymous variant)
Spastic paraplegia
GLikely benign
TAPBPL, VAMP1
Single nucleotide variant
(synonymous variant)
Spastic paraplegia
GLikely benign
TAPBPL, VAMP1
Single nucleotide variant
(synonymous variant)
Spastic paraplegia
GLikely benign
TAPBPL, VAMP1
(R33Q)
Single nucleotide variant
(missense variant)
Spastic paraplegia
GUncertain significance
TAPBPL, VAMP1
(R33*)
Single nucleotide variant
(nonsense)
Spastic paraplegia
GPathogenic
TAPBPL, VAMP1
(P25L)
Single nucleotide variant
(missense variant)
Spastic paraplegia
GUncertain significance
TAPBPL, VAMP1
(P24H)
Single nucleotide variant
(missense variant)
Spastic paraplegia
GUncertain significance
TAPBPL, VAMP1
(G23fs)
Deletion
(frameshift variant)
Spastic paraplegia
+1 more
GPathogenic
TAPBPL, VAMP1
(P22fs)
Deletion
(frameshift variant)
not provided
+1 more
GConflicting classifications of pathogenicity
TAPBPL, VAMP1
(G18fs)
Deletion
(frameshift variant)
Myasthenic syndrome, congenital, 25, presynaptic
GPathogenic
TAPBPL, VAMP1
(G20fs)
Deletion
(frameshift variant)
Spastic paraplegia
GPathogenic
TAPBPL, VAMP1
(G20S)
Single nucleotide variant
(missense variant)
Spastic paraplegia
GUncertain significance
TAPBPL, VAMP1
(G19R)
Single nucleotide variant
(missense variant)
Spastic paraplegia
GUncertain significance
TAPBPL, VAMP1
(T12S)
Single nucleotide variant
(missense variant)
Spastic paraplegia
GUncertain significance
TAPBPL, VAMP1
(A9G)
Single nucleotide variant
(missense variant)
Spastic paraplegia
+1 more
GUncertain significance
TAPBPL, VAMP1
(P7L)
Single nucleotide variant
(missense variant)
Spastic paraplegia
GUncertain significance
TAPBPL, VAMP1
(P7S)
Single nucleotide variant
(missense variant)
Spastic paraplegia
GUncertain significance
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