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Links from MedGen

Items: 74

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CFI
Single nucleotide variant
(5 prime UTR variant +1 more)
Factor I deficiency
GUncertain significance
CFI
Single nucleotide variant
(splice donor variant)
not provided
+1 more
GLikely pathogenic
CFI
(Q88K)
Single nucleotide variant
(missense variant +2 more)
Factor I deficiency
GUncertain significance
CFI
(P64L)
Single nucleotide variant
(missense variant +2 more)
Factor I deficiency
+1 more
GUncertain significance
CFI
(S268L +1 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
Factor I deficiency
GUncertain significance
CFI
Single nucleotide variant
(synonymous variant +2 more)
Age related macular degeneration 13
+3 more
GLikely benign
CFI
Single nucleotide variant
(intron variant)
not provided
+3 more
GLikely benign
CFI
Single nucleotide variant
(synonymous variant +2 more)
Age related macular degeneration 13
+3 more
GLikely benign
CFI
Single nucleotide variant
(synonymous variant +1 more)
Age related macular degeneration 13
+3 more
GLikely benign
CFI
Single nucleotide variant
(synonymous variant +2 more)
Factor I deficiency
+3 more
GLikely benign
CFI
Single nucleotide variant
(synonymous variant +1 more)
Age related macular degeneration 13
+3 more
GLikely benign
CFI
Single nucleotide variant
(synonymous variant +2 more)
Age related macular degeneration 13
+3 more
GLikely benign
CFI
Single nucleotide variant
(synonymous variant +2 more)
Factor I deficiency
+3 more
GLikely benign
CFI
Single nucleotide variant
(intron variant)
Factor I deficiency
+3 more
GLikely benign
CFI
(N177I)
Single nucleotide variant
(missense variant +2 more)
Atypical hemolytic-uremic syndrome with I factor anomaly
+3 more
GUncertain significance
CFI
(S18Y +1 more)
Single nucleotide variant
(missense variant +1 more)
Atypical hemolytic-uremic syndrome with I factor anomaly
+3 more
GUncertain significance
CFI
(Y65H)
Single nucleotide variant
(missense variant +2 more)
Atypical hemolytic-uremic syndrome
+4 more
GUncertain significance
CFI
(A365T +4 more)
Single nucleotide variant
(missense variant +1 more)
Age related macular degeneration 13
+3 more
GUncertain significance
CFI
(L465fs +4 more)
Deletion
(frameshift variant +1 more)
not provided
+1 more
GPathogenic
CFI
(A258T +1 more)
Single nucleotide variant
(missense variant +1 more)
CFI-related disorder
+4 more
GPathogenic/Likely pathogenic
CFI
(I333T +4 more)
Single nucleotide variant
(missense variant +1 more)
Factor I deficiency
+1 more
GConflicting classifications of pathogenicity
CFI
(C460R +4 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+3 more
GUncertain significance
CFI
(S113N)
Single nucleotide variant
(missense variant +2 more)
Factor I deficiency
+4 more
GUncertain significance
CFI
(P83R)
Single nucleotide variant
(missense variant +2 more)
not provided
+1 more
GUncertain significance
CFI
(D283G +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+3 more
GUncertain significance
CFI
(D44N)
Single nucleotide variant
(missense variant +2 more)
not provided
+3 more
GUncertain significance
CFI
(R201G)
Single nucleotide variant
(missense variant +2 more)
Age related macular degeneration 13
+3 more
GUncertain significance
CFI
(R339Q +4 more)
Single nucleotide variant
(missense variant +1 more)
Atypical hemolytic-uremic syndrome with I factor anomaly
+4 more
GUncertain significance
CFI
(V336M +4 more)
Single nucleotide variant
(missense variant +1 more)
Factor I deficiency
+4 more
GUncertain significance
CFI
(E109K)
Single nucleotide variant
(missense variant +2 more)
Inborn genetic diseases
+4 more
GUncertain significance
CFI
(S290R +4 more)
Single nucleotide variant
(missense variant +1 more)
Atypical hemolytic-uremic syndrome with I factor anomaly
+3 more
GUncertain significance
CFI
(L94F)
Single nucleotide variant
(missense variant +2 more)
Factor I deficiency
+3 more
GUncertain significance
CFI
(M147V)
Single nucleotide variant
(missense variant +2 more)
Factor I deficiency
+3 more
GUncertain significance
CFI
(R203C +4 more)
Single nucleotide variant
(missense variant +1 more)
Factor I deficiency
+3 more
GUncertain significance
CFI
(A424S +4 more)
Single nucleotide variant
(missense variant +1 more)
Age related macular degeneration 13
+3 more
GUncertain significance
CFI
Single nucleotide variant
(intron variant)
not provided
+3 more
GUncertain significance
CFI
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign
CFI
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign
CFI
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign
CFI
(W343* +4 more)
Single nucleotide variant
(nonsense +2 more)
Age related macular degeneration 13
+2 more
GLikely pathogenic
CFI
Indel
(splice donor variant)
Age related macular degeneration 13
+2 more
GPathogenic
CFI
Duplication
(intron variant)
Atypical hemolytic-uremic syndrome with I factor anomaly
+3 more
GBenign/Likely benign
CFI
Single nucleotide variant
(splice donor variant)
Factor I deficiency
+4 more
GPathogenic/Likely pathogenic
CFI
Single nucleotide variant
(synonymous variant +1 more)
Atypical hemolytic-uremic syndrome with I factor anomaly
+3 more
GUncertain significance
CFI
(K142Q)
Single nucleotide variant
(missense variant +2 more)
not provided
+3 more
GUncertain significance
CFI
(R317Q +4 more)
Single nucleotide variant
(missense variant +1 more)
Atypical hemolytic-uremic syndrome with I factor anomaly
+3 more
GUncertain significance
CFI
(M1V)
Single nucleotide variant
(missense variant +3 more)
Atypical hemolytic-uremic syndrome with I factor anomaly
+3 more
GUncertain significance
CFI
Single nucleotide variant
(synonymous variant +1 more)
Atypical hemolytic-uremic syndrome with I factor anomaly
+3 more
GLikely benign
CFI
(R187*)
Single nucleotide variant
(nonsense +2 more)
Factor I deficiency
+3 more
GPathogenic/Likely pathogenic
CFI
(A511V +4 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+4 more
GUncertain significance
CFI
(K69E)
Single nucleotide variant
(intron variant +2 more)
Inborn genetic diseases
+4 more
GUncertain significance
CFI
(C54W)
Single nucleotide variant
(missense variant +2 more)
not provided
GLikely pathogenic
CFI
(Y411* +4 more)
Single nucleotide variant
(nonsense +1 more)
not provided
+3 more
GLikely pathogenic
CFI
(S570T +4 more)
Single nucleotide variant
(missense variant +2 more)
Atypical hemolytic-uremic syndrome with I factor anomaly
+3 more
GUncertain significance
CFI
(V152M)
Single nucleotide variant
(missense variant +2 more)
Atypical hemolytic-uremic syndrome with I factor anomaly
+3 more
GUncertain significance
CFI
(N151S)
Single nucleotide variant
(missense variant +2 more)
not provided
+1 more
GConflicting classifications of pathogenicity
CFI
(T107A)
Single nucleotide variant
(missense variant +2 more)
not provided
+3 more
GBenign/Likely benign
CFI
Single nucleotide variant
(synonymous variant +2 more)
Atypical hemolytic-uremic syndrome with I factor anomaly
+3 more
GLikely benign
CFI
Single nucleotide variant
(synonymous variant +1 more)
Factor I deficiency
+3 more
GBenign
CFI
Single nucleotide variant
(intron variant)
Atypical hemolytic-uremic syndrome with I factor anomaly
+3 more
GBenign/Likely benign
CFI
Single nucleotide variant
(synonymous variant +1 more)
Kidney disorder
+4 more
GBenign/Likely benign
CFI
(K441R +4 more)
Single nucleotide variant
(missense variant +1 more)
Atypical hemolytic-uremic syndrome with I factor anomaly
+7 more
GConflicting classifications of pathogenicity
CFI
Single nucleotide variant
(intron variant)
not provided
+3 more
GBenign/Likely benign
CFI
Single nucleotide variant
(synonymous variant +1 more)
not provided
+3 more
GBenign/Likely benign
CFI
Single nucleotide variant
(synonymous variant +2 more)
not provided
+4 more
GBenign/Likely benign
CFI
Single nucleotide variant
(3 prime UTR variant +2 more)
Factor I deficiency
+2 more
GBenign
CFI
(D27fs)
Deletion
(frameshift variant +2 more)
not provided
+4 more
GPathogenic
CFI
(W386fs +4 more)
Microsatellite
(frameshift variant +1 more)
CFI-related disorder
+4 more
GPathogenic
CFI
Single nucleotide variant
(intron variant)
not specified
+6 more
GBenign/Likely benign
CFI
(G119R)
Single nucleotide variant
(missense variant +2 more)
Atypical hemolytic-uremic syndrome with I factor anomaly
+2 more
GConflicting classifications of pathogenicity
CFI
(G261D +1 more)
Single nucleotide variant
(missense variant +1 more)
Atypical hemolytic-uremic syndrome
+6 more
GLikely benign
CFI
(R317W +4 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+3 more
GUncertain significance
CFI
(G243D +1 more)
Single nucleotide variant
(missense variant +1 more)
Factor I deficiency
GPathogenic
CFI
(H418L +4 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GConflicting classifications of pathogenicity
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