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Items: 22

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CFI
(E548Q +4 more)
Single nucleotide variant
(missense variant +2 more)
not provided
+3 more
GConflicting classifications of pathogenicity
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
(splice donor variant)
not provided
+4 more
GPathogenic/Likely pathogenic
CFI
(K441R +4 more)
Single nucleotide variant
(missense variant +1 more)
Factor I deficiency
+7 more
GConflicting classifications of pathogenicity
CFI
(I227T +4 more)
Single nucleotide variant
(missense variant +1 more)
Atypical hemolytic-uremic syndrome
GUncertain significance
CFI
(R406H +4 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GBenign
CFI
Single nucleotide variant
(synonymous variant +1 more)
Atypical hemolytic-uremic syndrome with I factor anomaly
+4 more
GBenign/Likely benign
CFI
(I338M +4 more)
Single nucleotide variant
(missense variant +1 more)
not specified
+2 more
GConflicting classifications of pathogenicity
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)
Inborn genetic diseases
+4 more
GConflicting classifications of pathogenicity
CFI
Single nucleotide variant
(intron variant)
not provided
+2 more
GBenign
CFI
(G261D +1 more)
Single nucleotide variant
(missense variant +1 more)
Atypical hemolytic-uremic syndrome with I factor anomaly
+5 more
GLikely benign
CFI
(T203I)
Single nucleotide variant
(missense variant +2 more)
not provided
+3 more
GConflicting classifications of pathogenicity
CFI
Single nucleotide variant
(intron variant)
Atypical hemolytic-uremic syndrome
+2 more
GBenign/Likely benign
CFI
Single nucleotide variant
(intron variant)
not provided
+2 more
GBenign
CFI
(I126T)
Single nucleotide variant
(missense variant +2 more)
not provided
+2 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
Deletion
(intron variant)
Atypical hemolytic-uremic syndrome
GLikely benign
CFI
(Y65H)
Single nucleotide variant
(missense variant +2 more)
not provided
+4 more
GUncertain significance
CFI
(D27fs)
Deletion
(frameshift variant +2 more)
Atypical hemolytic-uremic syndrome
+4 more
GPathogenic
CFI
(L4H)
Single nucleotide variant
(missense variant +2 more)
not provided
+1 more
GUncertain significance
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