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Items: 1 to 100 of 140

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC125048431, LOC125048432
+3280 more
Copy number gain
See cases
GPathogenic
FSCB, FUT8
+3275 more
Copy number gain
See cases
GPathogenic
ACTR10, AKAP5
+344 more
Copy number loss
See cases
GPathogenic
ACTR10, ARID4A
+202 more
Copy number loss
See cases
GPathogenic
ACTR10, ARID4A
+113 more
Copy number loss
See cases
GPathogenic
LOC132090233, LOC132090234
+264 more
Copy number loss
See cases
GPathogenic
C14orf39, LOC110121407
+15 more
Copy number gain
See cases
GUncertain significance
C14orf39, SIX6
Deletion
(splice donor variant +1 more)
Sclerocornea
+3 more
GPathogenic
C14orf39, SIX6
Single nucleotide variant
(5 prime UTR variant)
Anophthalmia-microphthalmia syndrome
GUncertain significance
C14orf39, SIX6
Single nucleotide variant
(5 prime UTR variant)
not provided
+1 more
GBenign
C14orf39, SIX6
Single nucleotide variant
(5 prime UTR variant)
Anophthalmia-microphthalmia syndrome
GLikely benign
C14orf39, SIX6
Single nucleotide variant
(5 prime UTR variant)
not provided
+1 more
GLikely benign
C14orf39, SIX6
Single nucleotide variant
(5 prime UTR variant)
Anophthalmia-microphthalmia syndrome
GUncertain significance
C14orf39, SIX6
Single nucleotide variant
(5 prime UTR variant)
not provided
+1 more
GLikely benign
C14orf39, SIX6
(L4M)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
C14orf39, SIX6
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
C14orf39, SIX6
Single nucleotide variant
(synonymous variant)
Anophthalmia-microphthalmia syndrome
+1 more
GConflicting classifications of pathogenicity
C14orf39, SIX6
Single nucleotide variant
(synonymous variant)
not provided
GBenign
C14orf39, SIX6
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GBenign/Likely benign
C14orf39, SIX6
(Q12K)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SIX6, C14orf39
(E22V)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
C14orf39, SIX6
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
C14orf39, SIX6
(D26N)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
C14orf39, SIX6
(G31R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
C14orf39, SIX6
Single nucleotide variant
(synonymous variant)
Anophthalmia-microphthalmia syndrome
GUncertain significance
C14orf39, SIX6
(W35*)
Single nucleotide variant
(nonsense)
not provided
GLikely pathogenic
C14orf39, SIX6
(L37P)
Single nucleotide variant
(missense variant)
Colobomatous optic disc-macular atrophy-chorioretinopathy syndrome
GPathogenic
C14orf39, SIX6
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
C14orf39, SIX6
(P41S)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
C14orf39, SIX6
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
C14orf39, SIX6
(A42T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
C14orf39, SIX6
(E45D)
Single nucleotide variant
(missense variant)
not specified
+1 more
GUncertain significance
C14orf39, SIX6
(K49E)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
C14orf39, SIX6
(S52W)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
C14orf39, SIX6
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
C14orf39, SIX6
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
C14orf39, SIX6
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
C14orf39, SIX6
(F62C)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
C14orf39, SIX6
(H72Q)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
C14orf39, SIX6
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
C14orf39, SIX6
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
C14orf39, SIX6
(K86fs)
Deletion
(frameshift variant)
not provided
GUncertain significance
C14orf39, SIX6
(A89T)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
C14orf39, SIX6
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
C14orf39, SIX6
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
C14orf39, SIX6
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
C14orf39, SIX6
(R103L)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
C14orf39, SIX6
(R105T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
C14orf39, SIX6
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
C14orf39, SIX6
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
C14orf39, SIX6
(R114*)
Single nucleotide variant
(nonsense)
not provided
GUncertain significance
C14orf39, SIX6
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
C14orf39, SIX6
(W126R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
C14orf39, SIX6
(D127fs)
Deletion
(frameshift variant)
See cases
GLikely pathogenic
C14orf39, SIX6
(E129K)
Single nucleotide variant
(missense variant)
SIX6-related disorder
+4 more
GConflicting classifications of pathogenicity
C14orf39, SIX6
(Q130R)
Single nucleotide variant
(missense variant)
Anophthalmia-microphthalmia syndrome
+1 more
GUncertain significance
C14orf39, SIX6
(K136T)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
C14orf39, SIX6
(E137A)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
C14orf39, SIX6
(H141N)
Single nucleotide variant
(missense variant)
Colobomatous optic disc-macular atrophy-chorioretinopathy syndrome
+3 more
GBenign
C14orf39, SIX6
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
C14orf39, SIX6
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
C14orf39, SIX6
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
C14orf39, SIX6
(L148R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
C14orf39, SIX6
(Q149R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
C14orf39, SIX6
(K158T)
Single nucleotide variant
(missense variant)
not provided
GConflicting classifications of pathogenicity
C14orf39, SIX6
(R159S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
C14orf39, SIX6
(R159H)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
C14orf39, SIX6
(T165A)
Single nucleotide variant
(missense variant)
Colobomatous optic disc-macular atrophy-chorioretinopathy syndrome
GUncertain significance
C14orf39, SIX6
(T168I)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
C14orf39, SIX6
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
C14orf39, SIX6
(V172A)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
C14orf39, SIX6
(N174S)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
C14orf39, SIX6
(N178fs)
Deletion
(frameshift variant)
not provided
GLikely pathogenic
C14orf39, SIX6
(D183H)
Single nucleotide variant
(missense variant)
Nystagmus
+3 more
GPathogenic
C14orf39, SIX6
(D183E)
Single nucleotide variant
(missense variant)
Colobomatous optic disc-macular atrophy-chorioretinopathy syndrome
GLikely pathogenic
C14orf39, SIX6
Single nucleotide variant
(intron variant)
not provided
GLikely benign
C14orf39, SIX6
Single nucleotide variant
(intron variant)
not provided
GLikely benign
C14orf39, SIX6
Single nucleotide variant
(intron variant)
not provided
GLikely benign
C14orf39, SIX6
Single nucleotide variant
(intron variant)
Anophthalmia-microphthalmia syndrome
GUncertain significance
C14orf39, SIX6
Single nucleotide variant
(intron variant)
not provided
GBenign
C14orf39, SIX6
Single nucleotide variant
(intron variant)
not provided
GLikely benign
C14orf39, SIX6
Single nucleotide variant
(intron variant)
not provided
+1 more
GConflicting classifications of pathogenicity
C14orf39, SIX6
Single nucleotide variant
(intron variant)
not provided
GLikely benign
C14orf39, SIX6
(Q193H)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
C14orf39, SIX6
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
C14orf39, SIX6
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
C14orf39, SIX6
(R203W)
Single nucleotide variant
(missense variant)
Anophthalmia-microphthalmia syndrome
GUncertain significance
C14orf39, SIX6
(R203Q)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
C14orf39, SIX6
(L205fs)
Deletion
(frameshift variant)
not provided
GUncertain significance
C14orf39, SIX6
(L205R)
Single nucleotide variant
(missense variant)
Colobomatous optic disc-macular atrophy-chorioretinopathy syndrome
+2 more
GConflicting classifications of pathogenicity
SIX6, C14orf39
(R206G)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
C14orf39, SIX6
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
C14orf39, SIX6
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
C14orf39, SIX6
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
C14orf39, SIX6
(T212M)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
C14orf39, SIX6
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
C14orf39, SIX6
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
C14orf39, SIX6
(P213S)
Single nucleotide variant
(missense variant)
Anophthalmia-microphthalmia syndrome
+1 more
GConflicting classifications of pathogenicity
C14orf39, SIX6
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
C14orf39, SIX6
(V218I)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
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