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Items: 1 to 100 of 278

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CUL1, CUX1
+4737 more
Copy number loss
See cases
GPathogenic
LOC123956257, LOC123956258
+2213 more
Copy number gain
See cases
GPathogenic
ALKBH4, ANKRD7
+474 more
Copy number loss
See cases
GPathogenic
AASS, ANKRD7
+248 more
Copy number loss
See cases
GPathogenic
AASS, ANKRD7
+253 more
Copy number loss
See cases
GPathogenic
AASS, ABCB8
+1547 more
Copy number gain
See cases
GPathogenic
LOC129999373, LOC129999374
+492 more
Copy number loss
See cases
GPathogenic
TSPAN12
Single nucleotide variant
(3 prime UTR variant)
Exudative vitreoretinopathy 5
GBenign
TSPAN12
Single nucleotide variant
(3 prime UTR variant)
Exudative vitreoretinopathy 5
GBenign
TSPAN12
Single nucleotide variant
(3 prime UTR variant)
Exudative vitreoretinopathy 5
GUncertain significance
TSPAN12
Single nucleotide variant
(3 prime UTR variant)
Exudative vitreoretinopathy 5
GBenign
TSPAN12
Deletion
(3 prime UTR variant)
Familial exudative vitreoretinopathy
GLikely benign
TSPAN12
Single nucleotide variant
(3 prime UTR variant)
Exudative vitreoretinopathy 5
GBenign
TSPAN12
Single nucleotide variant
(3 prime UTR variant)
Exudative vitreoretinopathy 5
GUncertain significance
TSPAN12
Single nucleotide variant
(3 prime UTR variant)
Exudative vitreoretinopathy 5
GUncertain significance
TSPAN12
Single nucleotide variant
(3 prime UTR variant)
Exudative vitreoretinopathy 5
GBenign
TSPAN12
Single nucleotide variant
(3 prime UTR variant)
Exudative vitreoretinopathy 5
GUncertain significance
TSPAN12
Single nucleotide variant
(3 prime UTR variant)
Exudative vitreoretinopathy 5
GUncertain significance
TSPAN12
Single nucleotide variant
(3 prime UTR variant)
Exudative vitreoretinopathy 5
GUncertain significance
TSPAN12
Single nucleotide variant
(3 prime UTR variant)
Exudative vitreoretinopathy 5
GUncertain significance
TSPAN12
Single nucleotide variant
(3 prime UTR variant)
Exudative vitreoretinopathy 5
GLikely benign
TSPAN12
Single nucleotide variant
(3 prime UTR variant)
Exudative vitreoretinopathy 5
+1 more
GBenign
TSPAN12
Deletion
(frameshift variant +1 more)
not provided
GUncertain significance
TSPAN12
(E304del)
Microsatellite
(inframe_deletion)
not provided
GUncertain significance
TSPAN12
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
TSPAN12
(M302R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TSPAN12
(H299Q)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TSPAN12
(N294K)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TSPAN12
(A293T)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TSPAN12
(M292K)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TSPAN12
(M292T)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
TSPAN12
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
TSPAN12
(T290A)
Single nucleotide variant
(missense variant)
not provided
GBenign
TSPAN12
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
TSPAN12
(L278P)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
TSPAN12
(L278M)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TSPAN12
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
TSPAN12
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
TSPAN12
(L271P)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TSPAN12
(H270Q)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TSPAN12
(Q269H)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TSPAN12
(N267K)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TSPAN12
(N267S)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TSPAN12
(M261T)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TSPAN12
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
TSPAN12
(G256E)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TSPAN12
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
TSPAN12
Single nucleotide variant
(synonymous variant)
Exudative vitreoretinopathy 5
+2 more
GBenign
TSPAN12
(P255A)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TSPAN12
(E254D)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
TSPAN12
(E254K)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TSPAN12
(Y249H)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TSPAN12
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
TSPAN12
(L245P)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TSPAN12
(I242V)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
TSPAN12
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
TSPAN12
(A237P)
Single nucleotide variant
(missense variant)
Exudative vitreoretinopathy 5
GPathogenic
TSPAN12
(Q234*)
Single nucleotide variant
(nonsense)
not provided
GUncertain significance
TSPAN12
(Q234K)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TSPAN12
(V232A)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TSPAN12
(I230T)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TSPAN12
(I230L)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
TSPAN12
(I230V)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TSPAN12
(I228V)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TSPAN12
(L223M)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
TSPAN12
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
TSPAN12
(L214fs)
Microsatellite
(frameshift variant)
not provided
GPathogenic
TSPAN12
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
TSPAN12
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
TSPAN12
(M210I)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TSPAN12
(G205D)
Single nucleotide variant
(missense variant)
not provided
GPathogenic
TSPAN12
Single nucleotide variant
(intron variant)
not provided
GLikely benign
TSPAN12
Single nucleotide variant
(intron variant)
not provided
GLikely benign
LOC129999198, TSPAN12
Copy number loss
See cases
GPathogenic
TSPAN12
Single nucleotide variant
(intron variant)
not provided
GBenign
TSPAN12
Single nucleotide variant
(intron variant)
not provided
GLikely benign
TSPAN12
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
TSPAN12
Single nucleotide variant
(splice donor variant)
Exudative vitreoretinopathy 5
GLikely pathogenic
TSPAN12
(L201R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TSPAN12
(E196G)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TSPAN12
(H194fs)
Deletion
(frameshift variant)
not provided
GPathogenic
TSPAN12
(A193D)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TSPAN12
(A193T)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TSPAN12
(S190F)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TSPAN12
(C189Y)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic/Likely pathogenic
TSPAN12
(G188R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TSPAN12
(R184S)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TSPAN12
(V183I)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TSPAN12
(V183fs)
Deletion
(frameshift variant)
not provided
GPathogenic
TSPAN12
(V183F)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TSPAN12
(C181*)
Single nucleotide variant
(nonsense)
not provided
GPathogenic
TSPAN12
(C181F)
Single nucleotide variant
(missense variant)
Exudative vitreoretinopathy 5
+3 more
GPathogenic
TSPAN12
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
TSPAN12
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
TSPAN12
(T172S)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TSPAN12
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
TSPAN12
(E170V)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TSPAN12
(W168R)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
TSPAN12
(F165L)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TSPAN12
(Y164C)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
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