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Items: 1 to 100 of 144

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ABHD12, ACSS1
+833 more
Copy number gain
See cases
GPathogenic
ABHD12, ACSS1
+828 more
Copy number gain
See cases
GPathogenic
LOC126863004, LOC126863005
+814 more
Copy number gain
See cases
GPathogenic
LOC130065884, LOC130065885
+2522 more
Copy number gain
See cases
GPathogenic
LOC130065574, LOC130065575
+950 more
Copy number gain
See cases
GPathogenic
ABHD12, ACSS1
+174 more
Copy number gain
See cases
GPathogenic
LOC130065583, LOC130065584
+45 more
Copy number gain
See cases
GUncertain significance
VSX1
(P230L)
Single nucleotide variant
(missense variant +2 more)
not provided
GUncertain significance
VSX1
Single nucleotide variant
(non-coding transcript variant +1 more)
Polymorphous corneal dystrophy
GUncertain significance
VSX1
Single nucleotide variant
(3 prime UTR variant +2 more)
Polymorphous corneal dystrophy
GUncertain significance
VSX1
Single nucleotide variant
(3 prime UTR variant +2 more)
Polymorphous corneal dystrophy
GBenign
VSX1
Single nucleotide variant
(3 prime UTR variant +2 more)
Polymorphous corneal dystrophy
GBenign
VSX1
Single nucleotide variant
(3 prime UTR variant +2 more)
Polymorphous corneal dystrophy
GUncertain significance
VSX1
Single nucleotide variant
(3 prime UTR variant +2 more)
Polymorphous corneal dystrophy
GUncertain significance
VSX1
Single nucleotide variant
(3 prime UTR variant +2 more)
Polymorphous corneal dystrophy
GBenign
VSX1
Deletion
(3 prime UTR variant +2 more)
Polymorphous corneal dystrophy
GBenign
VSX1
Single nucleotide variant
(3 prime UTR variant +2 more)
Polymorphous corneal dystrophy
GUncertain significance
VSX1
Single nucleotide variant
(3 prime UTR variant +2 more)
Polymorphous corneal dystrophy
GUncertain significance
VSX1
Single nucleotide variant
(3 prime UTR variant +2 more)
Polymorphous corneal dystrophy
GUncertain significance
VSX1
Single nucleotide variant
(3 prime UTR variant +2 more)
Polymorphous corneal dystrophy
GBenign
VSX1
Single nucleotide variant
(3 prime UTR variant +2 more)
Polymorphous corneal dystrophy
GBenign
VSX1
Single nucleotide variant
(3 prime UTR variant +2 more)
Polymorphous corneal dystrophy
GUncertain significance
VSX1
Single nucleotide variant
(3 prime UTR variant +2 more)
Polymorphous corneal dystrophy
GUncertain significance
VSX1
Single nucleotide variant
(3 prime UTR variant +2 more)
Polymorphous corneal dystrophy
GUncertain significance
VSX1
Single nucleotide variant
(3 prime UTR variant +2 more)
Polymorphous corneal dystrophy
GBenign
VSX1
Single nucleotide variant
(3 prime UTR variant +2 more)
Polymorphous corneal dystrophy
GUncertain significance
VSX1
Single nucleotide variant
(3 prime UTR variant +2 more)
Polymorphous corneal dystrophy
GUncertain significance
VSX1
Single nucleotide variant
(3 prime UTR variant +2 more)
Polymorphous corneal dystrophy
GUncertain significance
VSX1
Single nucleotide variant
(3 prime UTR variant +2 more)
Polymorphous corneal dystrophy
GLikely benign
VSX1
(G125E +1 more)
Single nucleotide variant
(missense variant +2 more)
Inborn genetic diseases
GUncertain significance
VSX1
(A345S +1 more)
Single nucleotide variant
(missense variant +2 more)
Inborn genetic diseases
GUncertain significance
VSX1
(R333W +1 more)
Single nucleotide variant
(missense variant +2 more)
not provided
GUncertain significance
VSX1
(S294C +1 more)
Single nucleotide variant
(missense variant +2 more)
Inborn genetic diseases
GUncertain significance
VSX1
(L60F +1 more)
Single nucleotide variant
(missense variant +2 more)
Polymorphous corneal dystrophy
GUncertain significance
VSX1
(H272Y +1 more)
Single nucleotide variant
(missense variant +2 more)
Inborn genetic diseases
GUncertain significance
VSX1
(M271I +1 more)
Single nucleotide variant
(missense variant +2 more)
not provided
GUncertain significance
VSX1
Duplication
(intron variant)
not provided
GBenign
VSX1
Duplication
(intron variant)
Polymorphous corneal dystrophy
GBenign
VSX1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
VSX1
(E26K +1 more)
Single nucleotide variant
(missense variant +2 more)
Inborn genetic diseases
GUncertain significance
VSX1
Single nucleotide variant
(synonymous variant +2 more)
Polymorphous corneal dystrophy
GUncertain significance
VSX1
(A256S +1 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
VSX1
(L253fs +1 more)
Deletion
(frameshift variant +2 more)
not provided
GLikely benign
VSX1
(V21M +1 more)
Single nucleotide variant
(missense variant +2 more)
Inborn genetic diseases
GUncertain significance
VSX1
(P247R +1 more)
Single nucleotide variant
(missense variant +2 more)
Keratoconus 1
+3 more
GConflicting classifications of pathogenicity
VSX1
(H244R +1 more)
Single nucleotide variant
(missense variant +2 more)
Polymorphous corneal dystrophy
+3 more
GConflicting classifications of pathogenicity
VSX1
Single nucleotide variant
(synonymous variant +2 more)
not provided
+1 more
GBenign/Likely benign
VSX1
(G8R +1 more)
Single nucleotide variant
(missense variant +2 more)
not provided
GUncertain significance
VSX1
(E234Q +1 more)
Single nucleotide variant
(missense variant +2 more)
not provided
GUncertain significance
VSX1
(R220H)
Single nucleotide variant
(missense variant +3 more)
VSX1-related disorder
GUncertain significance
VSX1
Single nucleotide variant
(5 prime UTR variant +2 more)
not provided
+1 more
GBenign/Likely benign
VSX1
Single nucleotide variant
(5 prime UTR variant +2 more)
Polymorphous corneal dystrophy
GBenign
VSX1
Single nucleotide variant
(synonymous variant +1 more)
VSX1-related disorder
GLikely benign
VSX1
(R217H)
Single nucleotide variant
(missense variant +1 more)
Keratoconus 1
GBenign
VSX1
Single nucleotide variant
(synonymous variant +1 more)
Polymorphous corneal dystrophy
+1 more
GBenign/Likely benign
VSX1
(R194*)
Single nucleotide variant
(nonsense +1 more)
not provided
GUncertain significance
VSX1
(A193V)
Single nucleotide variant
(missense variant +1 more)
Polymorphous corneal dystrophy
GUncertain significance
VSX1
(P189S)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
VSX1
(A186V)
Single nucleotide variant
(missense variant +1 more)
Polymorphous corneal dystrophy
GUncertain significance
VSX1
Single nucleotide variant
(synonymous variant +1 more)
Polymorphous corneal dystrophy
+2 more
GBenign
VSX1
Single nucleotide variant
(synonymous variant +1 more)
not provided
+1 more
GBenign
VSX1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
VSX1
(R166Q)
Single nucleotide variant
(missense variant +1 more)
Polymorphous corneal dystrophy
GBenign
VSX1
(R166W)
Single nucleotide variant
(missense variant +1 more)
Polymorphous corneal dystrophy
GUncertain significance
VSX1
(R162K)
Single nucleotide variant
(missense variant +1 more)
Polymorphous corneal dystrophy
GUncertain significance
VSX1
(G160V)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GBenign/Likely benign
VSX1
(G160D)
Single nucleotide variant
(missense variant +1 more)
Polymorphous corneal dystrophy
+2 more
GConflicting classifications of pathogenicity
VSX1
(L159M)
Single nucleotide variant
(missense variant +1 more)
Polymorphous corneal dystrophy
GLikely benign
VSX1
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
VSX1
Single nucleotide variant
(synonymous variant +1 more)
Polymorphous corneal dystrophy
+2 more
GBenign/Likely benign
VSX1
(P157R)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
VSX1
(N151S)
Single nucleotide variant
(missense variant +1 more)
not specified
+1 more
GConflicting classifications of pathogenicity
VSX1
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
VSX1
(D144E)
Single nucleotide variant
(missense variant +1 more)
Polymorphous corneal dystrophy
+1 more
GBenign/Likely benign
VSX1
(S141F)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
VSX1
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GLikely benign
VSX1
(T140M)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
VSX1
(V138I)
Single nucleotide variant
(missense variant +1 more)
Craniofacial anomalies and anterior segment dysgenesis syndrome
GBenign
VSX1
(R134L)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
VSX1
(R131S)
Single nucleotide variant
(missense variant +1 more)
Polymorphous corneal dystrophy
+1 more
GBenign
VSX1
(G130D)
Single nucleotide variant
(missense variant +1 more)
Polymorphous corneal dystrophy
+1 more
GUncertain significance
VSX1
(G130S)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
VSX1
Single nucleotide variant
(synonymous variant +1 more)
Polymorphous corneal dystrophy
GUncertain significance
VSX1
(P127S)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+1 more
GUncertain significance
VSX1
Single nucleotide variant
(synonymous variant +1 more)
Polymorphous corneal dystrophy
GUncertain significance
VSX1
(P114A)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
VSX1
Single nucleotide variant
(synonymous variant +1 more)
Polymorphous corneal dystrophy
+1 more
GBenign
VSX1
(G113A)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
VSX1
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
VSX1
(D105E)
Single nucleotide variant
(missense variant +1 more)
Polymorphous corneal dystrophy
+1 more
GBenign
VSX1
(A104P)
Single nucleotide variant
(missense variant +1 more)
Long QT syndrome
GLikely benign
VSX1
(R97G)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
VSX1
(A94E)
Single nucleotide variant
(missense variant +1 more)
Polymorphous corneal dystrophy
+1 more
GUncertain significance
VSX1
(T90R)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
VSX1
(A74E)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
VSX1
(S71C)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
VSX1
(P64L)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GLikely benign
VSX1
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
VSX1
Single nucleotide variant
(synonymous variant +1 more)
Polymorphous corneal dystrophy
+2 more
GBenign
VSX1
(P58L)
Single nucleotide variant
(missense variant +1 more)
not specified
+3 more
GConflicting classifications of pathogenicity
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