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Links from Gene

Items: 1 to 100 of 513

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CFI
(K117E)
Single nucleotide variant
(missense variant +2 more)
Inborn genetic diseases
GUncertain significance
CASP6, CFI
+9 more
Duplication
not provided
GUncertain significance
CFI
(S254P +4 more)
Single nucleotide variant
(missense variant +1 more)
Factor I deficiency
GUncertain significance
CFI
(S293F +4 more)
Single nucleotide variant
(missense variant +1 more)
Atypical hemolytic-uremic syndrome with I factor anomaly
GLikely pathogenic
CFI
(G323* +4 more)
Single nucleotide variant
(nonsense +2 more)
Atypical hemolytic-uremic syndrome with I factor anomaly
GLikely pathogenic
CFI
Single nucleotide variant
(5 prime UTR variant +1 more)
Factor I deficiency
GUncertain significance
CFI
(D321G +4 more)
Single nucleotide variant
(missense variant +2 more)
Atypical hemolytic-uremic syndrome with I factor anomaly
GLikely pathogenic
CFI
(A163V)
Single nucleotide variant
(missense variant +2 more)
Inborn genetic diseases
GUncertain significance
CFI
(M147I)
Single nucleotide variant
(missense variant +2 more)
Inborn genetic diseases
GLikely benign
CFI
(F13L)
Single nucleotide variant
(missense variant +2 more)
Inborn genetic diseases
GUncertain significance
CFI
(L145P +4 more)
Single nucleotide variant
(missense variant +1 more)
Atypical hemolytic-uremic syndrome with I factor anomaly
GUncertain significance
CFI
(Q224K +4 more)
Single nucleotide variant
(missense variant +1 more)
Atypical hemolytic-uremic syndrome with I factor anomaly
GUncertain significance
CFI
Single nucleotide variant
(synonymous variant +1 more)
Atypical hemolytic-uremic syndrome with I factor anomaly
GUncertain significance
AADAT, ABCE1
+286 more
Copy number gain
not specified
GPathogenic
CFI
(D27fs)
Deletion
(intron variant +2 more)
Atypical hemolytic-uremic syndrome with I factor anomaly
GPathogenic
CFI
Single nucleotide variant
(intron variant)
CFI-related disorder
GLikely benign
CFI
Single nucleotide variant
(intron variant)
CFI-related disorder
GLikely benign
CFI
(I230T +4 more)
Single nucleotide variant
(missense variant +1 more)
CFI-related disorder
GUncertain significance
CFI
(C54Y)
Single nucleotide variant
(missense variant +2 more)
CFI-related disorder
GUncertain significance
HPGDS, SCRG1
+537 more
Copy number gain
not provided
GPathogenic
CFI
(D394G +4 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
CFI
(R483G +4 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
CFI
Single nucleotide variant
(intron variant)
not provided
GLikely benign
CFI
(R168S)
Single nucleotide variant
(missense variant +2 more)
not provided
GUncertain significance
CFI
(L122V +4 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
CFI
(V390I +4 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
CFI
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
CFI
(W51R)
Single nucleotide variant
(missense variant +2 more)
not provided
GUncertain significance
CFI
(S192N)
Single nucleotide variant
(missense variant +2 more)
not provided
GUncertain significance
CFI
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
CFI
Single nucleotide variant
(intron variant)
not provided
GLikely benign
CFI
(N436S +4 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
CFI
Single nucleotide variant
(synonymous variant +2 more)
not provided
GLikely benign
CFI
(P255A +4 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
CFI
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
CFI
(D548V +4 more)
Single nucleotide variant
(missense variant +2 more)
not provided
GUncertain significance
CFI
Single nucleotide variant
(intron variant)
not provided
GLikely benign
CFI
Single nucleotide variant
(intron variant)
not provided
GLikely benign
CFI
Single nucleotide variant
(synonymous variant +2 more)
not provided
GLikely benign
CFI
(E479G +4 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
CFI
Single nucleotide variant
(intron variant)
not provided
GBenign
CFI
(Q57R +1 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GUncertain significance
CFI
Single nucleotide variant
(intron variant)
not provided
GLikely benign
CFI
(E345G +4 more)
Single nucleotide variant
(missense variant +2 more)
not provided
GUncertain significance
CFI
(R345* +4 more)
Single nucleotide variant
(nonsense +1 more)
not provided
GPathogenic
CFI
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
CFI
(G269R +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
CFI
(S144N)
Single nucleotide variant
(missense variant +2 more)
not provided
GUncertain significance
CFI
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
CFI
(G535S +4 more)
Single nucleotide variant
(missense variant +2 more)
not provided
GUncertain significance
CFI
Single nucleotide variant
(synonymous variant +2 more)
not provided
GLikely benign
CFI
Deletion
(intron variant)
not provided
GBenign
CFI
(I140T)
Single nucleotide variant
(missense variant +2 more)
not provided
GUncertain significance
CFI
(V212M +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
CFI
(E149*)
Single nucleotide variant
(nonsense +2 more)
not provided
GPathogenic
CFI
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
CFI
Single nucleotide variant
(intron variant)
not provided
GLikely benign
CFI
(C307S +4 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
CFI
(N102S)
Single nucleotide variant
(missense variant +2 more)
Inborn genetic diseases
+1 more
GUncertain significance
CFI
(P325L +4 more)
Single nucleotide variant
(missense variant +2 more)
not provided
GUncertain significance
CFI
Single nucleotide variant
(synonymous variant +2 more)
not provided
GLikely benign
CFI
Single nucleotide variant
(intron variant)
not provided
GLikely benign
CFI
(P248R +4 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
CFI
(S24T)
Single nucleotide variant
(missense variant +2 more)
not provided
GUncertain significance
CFI
(F198S)
Single nucleotide variant
(missense variant +2 more)
not provided
GUncertain significance
CFI
(F139S)
Single nucleotide variant
(missense variant +2 more)
not provided
GUncertain significance
CFI
(N428fs +4 more)
Deletion
(frameshift variant +1 more)
not provided
GPathogenic
CFI
(R202del)
Microsatellite
(inframe_deletion +2 more)
not provided
GUncertain significance
CFI
(M513V +4 more)
Single nucleotide variant
(missense variant +2 more)
not specified
+1 more
GUncertain significance
CFI
Single nucleotide variant
(synonymous variant +2 more)
not provided
GLikely benign
CFI
(G324V +4 more)
Single nucleotide variant
(missense variant +2 more)
not provided
GUncertain significance
CFI
(E92G)
Single nucleotide variant
(missense variant +2 more)
not provided
GUncertain significance
CFI
Single nucleotide variant
(synonymous variant +2 more)
not provided
GUncertain significance
CFI
(Y296H +4 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
CFI
(Q166R)
Single nucleotide variant
(missense variant +2 more)
not provided
GUncertain significance
CFI
(D135G)
Single nucleotide variant
(missense variant +2 more)
not provided
GUncertain significance
CFI
Single nucleotide variant
(intron variant)
not provided
GLikely benign
CFI
Microsatellite
(splice donor variant)
not provided
GLikely benign
CFI
(C366Y +4 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
CFI
(E415K +4 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
CFI
(D379G +4 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
CFI
(S293C +4 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
CFI
(Q49*)
Single nucleotide variant
(nonsense +2 more)
not provided
GPathogenic
CFI
Single nucleotide variant
(intron variant)
not provided
GLikely benign
CFI
Single nucleotide variant
(intron variant)
not provided
GLikely benign
CFI
Single nucleotide variant
(intron variant)
not provided
GLikely benign
CFI
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
CFI
(F139L)
Single nucleotide variant
(missense variant +2 more)
not provided
GUncertain significance
CFI
(R202fs)
Duplication
(frameshift variant +2 more)
not provided
GPathogenic
CFI
(S293P +4 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
CFI
(G104*)
Single nucleotide variant
(nonsense +2 more)
not provided
GPathogenic
CFI
(E124G)
Single nucleotide variant
(missense variant +2 more)
not provided
GUncertain significance
CFI
(G66S +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
CFI
(S306fs +2 more)
Deletion
(frameshift variant +2 more)
not provided
GPathogenic
CFI
Single nucleotide variant
(intron variant +1 more)
not provided
GLikely pathogenic
CFI
(A424T +4 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
CFI
(R429C +4 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
CFI
(D505N +9 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
CFI
(E345D +4 more)
Single nucleotide variant
(missense variant +2 more)
not provided
GUncertain significance
CFI
(S251I +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
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