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Items: 56

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CFH
(I453L)
Single nucleotide variant
(missense variant)
Atypical hemolytic-uremic syndrome with I factor anomaly
+4 more
GUncertain significance
CFI
(S570T +4 more)
Single nucleotide variant
(missense variant +2 more)
not provided
+3 more
GUncertain significance
CFI
Single nucleotide variant
(synonymous variant +2 more)
Age related macular degeneration 13
+3 more
GLikely benign
CFI
(W343* +4 more)
Single nucleotide variant
(nonsense +2 more)
Age related macular degeneration 13
+2 more
GLikely pathogenic
CFI
Single nucleotide variant
(synonymous variant +2 more)
Atypical hemolytic-uremic syndrome with I factor anomaly
+4 more
GBenign/Likely benign
CFI
Single nucleotide variant
(intron variant)
not provided
+5 more
GBenign/Likely benign
CFI
Single nucleotide variant
(synonymous variant +1 more)
not provided
+3 more
GUncertain significance
CFI
(A511V +4 more)
Single nucleotide variant
(missense variant +1 more)
Age related macular degeneration 13
+4 more
GUncertain significance
CFI
(S290R +4 more)
Single nucleotide variant
(missense variant +1 more)
Factor I deficiency
+3 more
GUncertain significance
CFI
Single nucleotide variant
(synonymous variant +1 more)
Atypical hemolytic-uremic syndrome with I factor anomaly
+3 more
GBenign/Likely benign
CFI
Single nucleotide variant
(intron variant)
Factor I deficiency
+3 more
GLikely benign
CFI
Single nucleotide variant
(intron variant)
Atypical hemolytic-uremic syndrome with I factor anomaly
+4 more
GBenign/Likely benign
CFI
Single nucleotide variant
(splice donor variant)
not provided
+4 more
GPathogenic/Likely pathogenic
CFI
(C460R +4 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+3 more
GUncertain significance
CFI
Single nucleotide variant
(synonymous variant +1 more)
not provided
+3 more
GLikely benign
CFI
(A424S +4 more)
Single nucleotide variant
(missense variant +1 more)
Factor I deficiency
+3 more
GUncertain significance
CFI
(Y411* +4 more)
Single nucleotide variant
(nonsense +1 more)
not provided
+3 more
GLikely pathogenic
CFI
(R203C +4 more)
Single nucleotide variant
(missense variant +1 more)
Age related macular degeneration 13
+3 more
GUncertain significance
CFI
Single nucleotide variant
(synonymous variant +1 more)
Atypical hemolytic-uremic syndrome with I factor anomaly
+4 more
GBenign/Likely benign
CFI
(W386fs +4 more)
Microsatellite
(frameshift variant +1 more)
not provided
+3 more
GPathogenic
CFI
(A365T +4 more)
Single nucleotide variant
(missense variant +1 more)
Factor I deficiency
+3 more
GUncertain significance
CFI
(V336M +4 more)
Single nucleotide variant
(missense variant +1 more)
Atypical hemolytic-uremic syndrome
+4 more
GUncertain significance
CFI
Single nucleotide variant
(intron variant)
Atypical hemolytic-uremic syndrome with I factor anomaly
+3 more
GBenign/Likely benign
CFI
(R339Q +4 more)
Single nucleotide variant
(missense variant +1 more)
Age related macular degeneration 13
+4 more
GUncertain significance
CFI
(R317Q +4 more)
Single nucleotide variant
(missense variant +1 more)
Age related macular degeneration 13
+3 more
GUncertain significance
CFI
(R317W +4 more)
Single nucleotide variant
(missense variant +1 more)
Factor I deficiency
+3 more
GUncertain significance
CFI
(D283G +1 more)
Single nucleotide variant
(missense variant +1 more)
Factor I deficiency
+3 more
GUncertain significance
CFI
(G261D +1 more)
Single nucleotide variant
(missense variant +1 more)
Atypical hemolytic-uremic syndrome with I factor anomaly
+5 more
GLikely benign
CFI
Single nucleotide variant
(intron variant)
not provided
+3 more
GUncertain significance
CFI
Indel
(splice donor variant)
Age related macular degeneration 13
+2 more
GPathogenic
CFI
(A258T +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+3 more
GPathogenic/Likely pathogenic
CFI
Single nucleotide variant
(synonymous variant +1 more)
not provided
+3 more
GLikely benign
CFI
Single nucleotide variant
(synonymous variant +1 more)
not provided
+3 more
GLikely benign
CFI
(S18Y +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+3 more
GUncertain significance
CFI
(R201G)
Single nucleotide variant
(missense variant +2 more)
not provided
+3 more
GUncertain significance
CFI
(R187*)
Single nucleotide variant
(nonsense +2 more)
Age related macular degeneration 13
+3 more
GPathogenic/Likely pathogenic
CFI
Single nucleotide variant
(synonymous variant +2 more)
not provided
+3 more
GLikely benign
CFI
Single nucleotide variant
(synonymous variant +2 more)
Atypical hemolytic-uremic syndrome with I factor anomaly
+3 more
GLikely benign
CFI
(N177I)
Single nucleotide variant
(missense variant +2 more)
not provided
+3 more
GUncertain significance
CFI
Single nucleotide variant
(intron variant)
Factor I deficiency
+3 more
GLikely benign
CFI
(V152M)
Single nucleotide variant
(missense variant +2 more)
Age related macular degeneration 13
+3 more
GUncertain significance
CFI
(M147V)
Single nucleotide variant
(missense variant +2 more)
Age related macular degeneration 13
+3 more
GUncertain significance
CFI
Single nucleotide variant
(synonymous variant +2 more)
not provided
+3 more
GLikely benign
CFI
(K142Q)
Single nucleotide variant
(missense variant +2 more)
Atypical hemolytic-uremic syndrome with I factor anomaly
+3 more
GUncertain significance
CFI
(S113N)
Single nucleotide variant
(missense variant +2 more)
Atypical hemolytic-uremic syndrome with I factor anomaly
+4 more
GUncertain significance
CFI
Duplication
(intron variant)
Atypical hemolytic-uremic syndrome with I factor anomaly
+3 more
GBenign/Likely benign
CFI
(E109K)
Single nucleotide variant
(missense variant +2 more)
Factor I deficiency
+4 more
GUncertain significance
CFI
(T107A)
Single nucleotide variant
(missense variant +2 more)
Atypical hemolytic-uremic syndrome with I factor anomaly
+3 more
GBenign/Likely benign
CFI
(L94F)
Single nucleotide variant
(missense variant +2 more)
Age related macular degeneration 13
+3 more
GUncertain significance
CFI
(K69E)
Single nucleotide variant
(missense variant +2 more)
not provided
+4 more
GUncertain significance
CFI
(Y65H)
Single nucleotide variant
(missense variant +2 more)
not provided
+4 more
GUncertain significance
CFI
Single nucleotide variant
(synonymous variant +2 more)
not provided
+3 more
GLikely benign
CFI
(D44N)
Single nucleotide variant
(missense variant +2 more)
not provided
+3 more
GUncertain significance
CFI
(D27fs)
Deletion
(frameshift variant +2 more)
Atypical hemolytic-uremic syndrome
+4 more
GPathogenic
CFI
Single nucleotide variant
(synonymous variant +2 more)
Factor I deficiency
+3 more
GLikely benign
CFI
(M1V)
Single nucleotide variant
(missense variant +3 more)
Age related macular degeneration 13
+3 more
GUncertain significance
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