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Items: 10

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CFI
(S570T +4 more)
Single nucleotide variant
(missense variant +2 more)
Atypical hemolytic-uremic syndrome with I factor anomaly
+3 more
GUncertain significance
CFI
(A249D +4 more)
Single nucleotide variant
(missense variant +1 more)
Atypical hemolytic-uremic syndrome with I factor anomaly
GUncertain significance
CFI
(R389C +4 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
CFI
(T184I +4 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
CFI
(C373S +4 more)
Single nucleotide variant
(missense variant +1 more)
Atypical hemolytic-uremic syndrome with I factor anomaly
GLikely pathogenic
CFI
(C284G +1 more)
Single nucleotide variant
(missense variant +1 more)
Atypical hemolytic-uremic syndrome with I factor anomaly
GUncertain significance
CFI
(G104R)
Single nucleotide variant
(missense variant +2 more)
Atypical hemolytic-uremic syndrome with I factor anomaly
GLikely pathogenic
CFI
(N70T)
Single nucleotide variant
(missense variant +2 more)
Atypical hemolytic-uremic syndrome with I factor anomaly
+1 more
GUncertain significance
CFI
(K69E)
Single nucleotide variant
(intron variant +2 more)
Inborn genetic diseases
+4 more
GUncertain significance
CFI
(K62E)
Single nucleotide variant
(missense variant +2 more)
Atypical hemolytic-uremic syndrome with I factor anomaly
GUncertain significance
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