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Links from MedGen

Items: 63

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CFB
(V675M)
Single nucleotide variant
(missense variant)
Atypical hemolytic-uremic syndrome with B factor anomaly
GUncertain significance
CFB
Single nucleotide variant
(intron variant)
not provided
+3 more
GLikely benign
CFB
Single nucleotide variant
(intron variant)
Complement factor b deficiency
+2 more
GBenign
CFB
(P168L)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
CFB
Single nucleotide variant
(intron variant)
not provided
+3 more
GConflicting classifications of pathogenicity
C2, CFB
(K312R +4 more)
Single nucleotide variant
(missense variant)
not provided
+4 more
GConflicting classifications of pathogenicity
CFB
(T613I)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
CFB
Single nucleotide variant
(synonymous variant)
Atypical hemolytic-uremic syndrome with B factor anomaly
+1 more
GUncertain significance
CFB
(G112R)
Single nucleotide variant
(missense variant)
Atypical hemolytic-uremic syndrome with B factor anomaly
+1 more
GUncertain significance
CFB
(Y588H)
Single nucleotide variant
(missense variant)
Atypical hemolytic-uremic syndrome with B factor anomaly
+2 more
GUncertain significance
CFB
(K306R)
Single nucleotide variant
(missense variant)
Atypical hemolytic-uremic syndrome with B factor anomaly
+2 more
GUncertain significance
CFB
(V262I)
Single nucleotide variant
(missense variant)
Macular degeneration
+2 more
GConflicting classifications of pathogenicity
CFB
(T92S)
Single nucleotide variant
(missense variant)
not provided
+3 more
GConflicting classifications of pathogenicity
CFB
Single nucleotide variant
(synonymous variant)
Macular degeneration
+2 more
GBenign/Likely benign
CFB
Single nucleotide variant
Atypical hemolytic-uremic syndrome with B factor anomaly
+1 more
GUncertain significance
CFB
(A690V)
Single nucleotide variant
(missense variant)
Atypical hemolytic-uremic syndrome with B factor anomaly
+1 more
GUncertain significance
CFB
Single nucleotide variant
(intron variant)
Macular degeneration
+1 more
GConflicting classifications of pathogenicity
CFB
(D651E)
Single nucleotide variant
(missense variant)
not provided
+2 more
GBenign
CFB
Single nucleotide variant
(synonymous variant)
Atypical hemolytic-uremic syndrome with B factor anomaly
+2 more
GConflicting classifications of pathogenicity
CFB
(E40K)
Single nucleotide variant
(missense variant)
Atypical hemolytic-uremic syndrome with B factor anomaly
GUncertain significance
CFB
(M458I)
Single nucleotide variant
(missense variant)
Atypical hemolytic-uremic syndrome with B factor anomaly
+4 more
GUncertain significance
CFB
(R143C)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CFB
(R406Q)
Single nucleotide variant
(missense variant)
Atypical hemolytic-uremic syndrome with B factor anomaly
GUncertain significance
CFB
(E621K)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CFB
Single nucleotide variant
(3 prime UTR variant)
Atypical hemolytic-uremic syndrome with B factor anomaly
+1 more
GConflicting classifications of pathogenicity
CFB
Single nucleotide variant
(3 prime UTR variant)
not provided
+2 more
GBenign
CFB
Single nucleotide variant
(3 prime UTR variant)
Atypical hemolytic-uremic syndrome with B factor anomaly
+1 more
GUncertain significance
CFB
Single nucleotide variant
(synonymous variant)
Atypical hemolytic-uremic syndrome with B factor anomaly
+5 more
GBenign/Likely benign
CFB
(A630V)
Single nucleotide variant
(missense variant)
Atypical hemolytic-uremic syndrome with B factor anomaly
+1 more
GUncertain significance
CFB
Single nucleotide variant
(intron variant)
Atypical hemolytic-uremic syndrome with B factor anomaly
+3 more
GBenign/Likely benign
CFB
(K565E)
Single nucleotide variant
(missense variant)
Atypical hemolytic-uremic syndrome with B factor anomaly
+4 more
GBenign
CFB
Single nucleotide variant
(synonymous variant)
Atypical hemolytic-uremic syndrome with B factor anomaly
+1 more
GUncertain significance
C2, CFB
Single nucleotide variant
(synonymous variant)
not specified
+4 more
GBenign/Likely benign
CFB
(H508Q)
Single nucleotide variant
(missense variant)
Atypical hemolytic-uremic syndrome with B factor anomaly
+1 more
GUncertain significance
CFB
(I469M)
Single nucleotide variant
(missense variant)
not specified
+3 more
GConflicting classifications of pathogenicity
C2, CFB
Single nucleotide variant
(synonymous variant)
Complement component 2 deficiency
+5 more
GBenign/Likely benign
CFB
Single nucleotide variant
(synonymous variant)
Atypical hemolytic-uremic syndrome with B factor anomaly
+1 more
GUncertain significance
C2, CFB
Single nucleotide variant
(synonymous variant)
not provided
+5 more
GBenign/Likely benign
C2, CFB
Single nucleotide variant
(synonymous variant)
Complement component 2 deficiency
+9 more
GBenign/Likely benign
CFB
Single nucleotide variant
(intron variant)
Atypical hemolytic-uremic syndrome with B factor anomaly
+2 more
GConflicting classifications of pathogenicity
CFB
Single nucleotide variant
(intron variant)
Atypical hemolytic-uremic syndrome with B factor anomaly
+3 more
GBenign/Likely benign
C2, CFB
Single nucleotide variant
(synonymous variant)
Atypical hemolytic-uremic syndrome
+5 more
GBenign/Likely benign
C2, CFB
(G252S)
Single nucleotide variant
(missense variant)
not provided
+5 more
GBenign/Likely benign
CFB
(I242L)
Single nucleotide variant
(missense variant)
not specified
+3 more
GConflicting classifications of pathogenicity
CFB
Single nucleotide variant
(synonymous variant)
Atypical hemolytic-uremic syndrome with B factor anomaly
+1 more
GConflicting classifications of pathogenicity
C2, CFB
Single nucleotide variant
(synonymous variant)
not provided
+4 more
GBenign/Likely benign
CFB
(Q219L)
Single nucleotide variant
(missense variant)
Atypical hemolytic-uremic syndrome with B factor anomaly
+1 more
GUncertain significance
CFB
(R202W)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
CFB
Single nucleotide variant
(synonymous variant)
Atypical hemolytic-uremic syndrome
+2 more
GBenign/Likely benign
C2, CFB
Single nucleotide variant
(synonymous variant)
Complement component 2 deficiency
+5 more
GBenign/Likely benign
C2, CFB
Single nucleotide variant
(synonymous variant)
Complement factor b deficiency
+4 more
GBenign
C2, CFB
Single nucleotide variant
(synonymous variant)
Complement component 2 deficiency
+5 more
GBenign/Likely benign
CFB
Single nucleotide variant
(synonymous variant)
Atypical hemolytic-uremic syndrome with B factor anomaly
+2 more
GConflicting classifications of pathogenicity
CFB
Single nucleotide variant
(synonymous variant)
Atypical hemolytic-uremic syndrome with B factor anomaly
+3 more
GConflicting classifications of pathogenicity
C2, CFB
(R74H)
Single nucleotide variant
(missense variant)
not provided
+4 more
GConflicting classifications of pathogenicity
CFB
Single nucleotide variant
(5 prime UTR variant)
Atypical hemolytic-uremic syndrome with B factor anomaly
+3 more
GUncertain significance
CFB
(E566A)
Single nucleotide variant
(missense variant)
not provided
+6 more
GBenign/Likely benign
C2, CFB
(K533R)
Single nucleotide variant
(missense variant)
Age related macular degeneration 14
+7 more
GBenign/Likely benign
CFB
(K323E)
Single nucleotide variant
(missense variant)
Atypical hemolytic-uremic syndrome with B factor anomaly
Grisk factor
CFB
(F286L)
Single nucleotide variant
(missense variant)
Atypical hemolytic-uremic syndrome with B factor anomaly
Grisk factor
C2, CFB
(L9H)
Single nucleotide variant
(missense variant)
Complement factor b deficiency
+8 more
GBenign/Likely benign
C2, CFB
(R32W)
Single nucleotide variant
(missense variant)
not provided
+8 more
GBenign/Likely benign
C2, CFB
(R32Q)
Single nucleotide variant
(missense variant)
Complement component 2 deficiency
+7 more
GBenign/Likely benign
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