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Items: 1 to 100 of 149

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
FYCO1
(D1473G)
Single nucleotide variant
(missense variant)
Cataract 18
GUncertain significance
FYCO1
(T1465M)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
FYCO1
Single nucleotide variant
(splice acceptor variant +1 more)
Cataract 18
+1 more
GConflicting classifications of pathogenicity
FYCO1
(G1242S +4 more)
Single nucleotide variant
(missense variant +2 more)
Cataract 18
GUncertain significance
FYCO1
(P1441T)
Single nucleotide variant
(missense variant)
Cataract 18
GConflicting classifications of pathogenicity
FYCO1
(T1440I)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
FYCO1
(N1431S)
Single nucleotide variant
(missense variant)
Cataract 18
GUncertain significance
FYCO1
(S1379F +4 more)
Single nucleotide variant
(missense variant +2 more)
Cataract 18
GUncertain significance
FYCO1
(R1424Q)
Single nucleotide variant
(missense variant)
Cataract 18
GConflicting classifications of pathogenicity
FYCO1
(T1422M)
Single nucleotide variant
(missense variant)
not provided
+1 more
GBenign
FYCO1
Single nucleotide variant
(synonymous variant)
Cataract 18
GLikely benign
FYCO1
(E1207K +4 more)
Single nucleotide variant
(missense variant +1 more)
Cataract 18
GUncertain significance
FYCO1
(S1354del +4 more)
Microsatellite
(inframe_deletion +1 more)
Cataract 18
GUncertain significance
FYCO1
Single nucleotide variant
(synonymous variant)
Cataract 18
GLikely benign
FYCO1
(A1384G)
Single nucleotide variant
(missense variant)
Cataract 18
GConflicting classifications of pathogenicity
FYCO1
(E1383K)
Single nucleotide variant
(missense variant)
Cataract 18
GBenign
FYCO1
Single nucleotide variant
(synonymous variant)
Cataract 18
+1 more
GBenign/Likely benign
FYCO1
(F1368L +4 more)
Single nucleotide variant
(missense variant +1 more)
Cataract 18
+1 more
GUncertain significance
FYCO1
Single nucleotide variant
(synonymous variant)
not specified
+2 more
GBenign
FYCO1
(G1361R)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
FYCO1
(T1322M +4 more)
Single nucleotide variant
(missense variant +1 more)
Cataract 18
GLikely benign
CXCR6, FYCO1
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
CXCR6, FYCO1
Single nucleotide variant
(synonymous variant +1 more)
not provided
GBenign
CXCR6, FYCO1
Single nucleotide variant
(synonymous variant +1 more)
not provided
GBenign
FYCO1
Single nucleotide variant
(intron variant)
Cataract 18
GBenign
FYCO1
Single nucleotide variant
(synonymous variant)
Cataract 18
+2 more
GBenign
FYCO1
Single nucleotide variant
(synonymous variant)
Cataract 18
GConflicting classifications of pathogenicity
FYCO1
(S1297F)
Single nucleotide variant
(missense variant)
Cataract 18
GUncertain significance
FYCO1
(E1087fs +4 more)
Deletion
(frameshift variant +1 more)
Cataract 18
GPathogenic
FYCO1
Single nucleotide variant
(synonymous variant)
Cataract 18
GConflicting classifications of pathogenicity
FYCO1
Single nucleotide variant
(synonymous variant)
Cataract 18
GConflicting classifications of pathogenicity
FYCO1
(P1275L)
Single nucleotide variant
(missense variant)
Cataract 18
+1 more
GUncertain significance
FYCO1
Single nucleotide variant
(intron variant)
Cataract 18
GLikely benign
FYCO1
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GBenign
FYCO1
(P1260R)
Single nucleotide variant
(missense variant)
Cataract 18
+1 more
GBenign/Likely benign
FYCO1
Single nucleotide variant
(synonymous variant)
Cataract 18
GBenign
FYCO1
(R1221H)
Single nucleotide variant
(missense variant)
Cataract 18
GUncertain significance
FYCO1
Single nucleotide variant
(synonymous variant +1 more)
Cataract 18
GLikely benign
FYCO1
(R1200H)
Single nucleotide variant
(missense variant)
Cataract 18
GUncertain significance
FYCO1
Single nucleotide variant
(intron variant)
Cataract 18
+2 more
GBenign
FYCO1
(R1144W +3 more)
Single nucleotide variant
(missense variant +1 more)
Cataract 18
GUncertain significance
FYCO1
(R1191Q)
Single nucleotide variant
(missense variant)
Cataract 18
+1 more
GUncertain significance
FYCO1
Deletion
(intron variant)
Cataract 18
GLikely benign
FYCO1
(I1102T +3 more)
Single nucleotide variant
(missense variant +1 more)
Cataract 18
+1 more
GConflicting classifications of pathogenicity
FYCO1
(R1140Q)
Single nucleotide variant
(missense variant)
not specified
+2 more
GBenign/Likely benign
FYCO1
(M1075V +3 more)
Single nucleotide variant
(missense variant +1 more)
Cataract 18
GUncertain significance
FYCO1
(K1108R)
Single nucleotide variant
(missense variant)
Cataract 18
GLikely benign
FYCO1
(K1060* +3 more)
Single nucleotide variant
(nonsense +1 more)
Cataract 18
GPathogenic
FYCO1
(K1108E)
Single nucleotide variant
(missense variant)
not provided
+1 more
GLikely benign
FYCO1
(E1048K +3 more)
Single nucleotide variant
(missense variant +1 more)
Cataract 18
GUncertain significance
FYCO1
Single nucleotide variant
(intron variant)
Cataract 18
GLikely benign
FYCO1
(D1078E)
Single nucleotide variant
(missense variant)
Cataract 18
GBenign
FYCO1
(A1024V +3 more)
Single nucleotide variant
(missense variant +1 more)
Cataract 18
GLikely benign
FYCO1
(Q1071R)
Single nucleotide variant
(missense variant)
not provided
+1 more
GBenign
FYCO1
(A1006fs +3 more)
Deletion
(frameshift variant +1 more)
Cataract 18
GPathogenic
FYCO1
(E1024D)
Single nucleotide variant
(missense variant)
not provided
GBenign
FYCO1
(S1008R)
Single nucleotide variant
(missense variant)
Cataract 18
GConflicting classifications of pathogenicity
FYCO1
(N1001K)
Single nucleotide variant
(missense variant)
not specified
+2 more
GBenign
FYCO1
(N1001D)
Single nucleotide variant
(missense variant)
not specified
+2 more
GBenign
FYCO1
(E994K)
Single nucleotide variant
(missense variant)
not specified
+2 more
GBenign
FYCO1
(A989V)
Single nucleotide variant
(missense variant)
Cataract 18
GUncertain significance
FYCO1
(G973S)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
FYCO1
Single nucleotide variant
(synonymous variant)
Cataract 18
GLikely benign
FYCO1
(Q755R +3 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+1 more
GUncertain significance
FYCO1
(G953W)
Single nucleotide variant
(missense variant)
Cataract 18
GUncertain significance
FYCO1
Single nucleotide variant
(synonymous variant)
Cataract 18
GLikely benign
FYCO1
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GBenign/Likely benign
FYCO1
(A936T)
Single nucleotide variant
(missense variant)
not provided
+1 more
GBenign/Likely benign
FYCO1
(V917M)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GBenign/Likely benign
FYCO1
Single nucleotide variant
(synonymous variant)
not specified
+2 more
GBenign
FYCO1
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GBenign/Likely benign
FYCO1
(Q897R)
Single nucleotide variant
(missense variant)
Cataract 18
+1 more
GUncertain significance
FYCO1
Single nucleotide variant
(synonymous variant +1 more)
Cataract 18
GBenign
FYCO1
(R871Q)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GBenign/Likely benign
FYCO1
(A836fs)
Deletion
(frameshift variant)
Cataract 18
GPathogenic
FYCO1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
FYCO1
(Q582fs +3 more)
Deletion
(frameshift variant +1 more)
Cataract 18
GPathogenic
FYCO1
Single nucleotide variant
(synonymous variant +1 more)
Cataract 18
GLikely benign
FYCO1
Single nucleotide variant
(synonymous variant +1 more)
Cataract 18
GLikely benign
FYCO1
(R765H)
Single nucleotide variant
(missense variant)
Cataract 18
+1 more
GBenign/Likely benign
FYCO1
Single nucleotide variant
(synonymous variant +1 more)
Cataract 18
GLikely benign
FYCO1
(H727N)
Single nucleotide variant
(missense variant)
not provided
+1 more
GBenign
FYCO1
Single nucleotide variant
(synonymous variant)
Cataract 18
GBenign/Likely benign
FYCO1
Single nucleotide variant
(synonymous variant)
Cataract 18
GConflicting classifications of pathogenicity
FYCO1
(A679V)
Single nucleotide variant
(missense variant)
not specified
+2 more
GBenign
FYCO1
(S669N)
Single nucleotide variant
(missense variant)
not provided
+1 more
GBenign/Likely benign
FYCO1
(S662F)
Single nucleotide variant
(missense variant)
not provided
+1 more
GBenign/Likely benign
FYCO1
Single nucleotide variant
(synonymous variant)
Cataract 18
GConflicting classifications of pathogenicity
FYCO1
(N618D)
Single nucleotide variant
(missense variant)
Cataract 18
GUncertain significance
FYCO1
(R615W)
Single nucleotide variant
(missense variant)
not specified
+2 more
GBenign
FYCO1
Single nucleotide variant
(synonymous variant +1 more)
Cataract 18
GLikely benign
FYCO1
(P359S +3 more)
Single nucleotide variant
(missense variant +1 more)
Cataract 18
GBenign
FYCO1
Single nucleotide variant
(synonymous variant)
Cataract 18
GLikely benign
FYCO1
(R513W)
Single nucleotide variant
(missense variant)
Cataract 18
+1 more
GUncertain significance
FYCO1
(T512S +3 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+1 more
GUncertain significance
FYCO1
(K301R +3 more)
Single nucleotide variant
(missense variant +1 more)
Cataract 18
GLikely benign
FYCO1
(R492W)
Single nucleotide variant
(missense variant)
not provided
+1 more
GBenign/Likely benign
FYCO1
(T480M)
Single nucleotide variant
(missense variant)
Cataract 18
+1 more
GBenign/Likely benign
FYCO1
Single nucleotide variant
(synonymous variant +1 more)
Cataract 18
GLikely benign
FYCO1
(A453T)
Single nucleotide variant
(missense variant)
Cataract 18
GUncertain significance
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