U.S. flag

An official website of the United States government

Format
Items per page
Sort by
Choose Destination

Search results

Items: 11

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CFH
(R28fs)
Deletion
(frameshift variant)
Hemolytic uremic syndrome, atypical, susceptibility to, 1
Grisk factor
CFH
(V62I)
Single nucleotide variant
(missense variant)
not provided
+6 more
GBenign
CFH
(P503A)
Single nucleotide variant
(missense variant)
not provided
+5 more
GUncertain significance
CFH
(Y899*)
Single nucleotide variant
(nonsense)
Hemolytic uremic syndrome, atypical, susceptibility to, 1
GPathogenic; risk factor
CFH
(E1172*)
Single nucleotide variant
(nonsense)
Hemolytic uremic syndrome, atypical, susceptibility to, 1
Grisk factor
CFH
(L1189R)
Single nucleotide variant
(missense variant)
Hemolytic uremic syndrome, atypical, susceptibility to, 1
Grisk factor
CFH
(S1191L)
Single nucleotide variant
(missense variant)
CFH-Related Disorders
+5 more
GPathogenic
CFH
(E1198*)
Single nucleotide variant
(nonsense)
Hemolytic uremic syndrome, atypical, susceptibility to, 1
Grisk factor
CFH
(R1210C)
Single nucleotide variant
(missense variant)
Kidney disorder
+6 more
GConflicting classifications of pathogenicity
CFH
(R1215G)
Single nucleotide variant
(missense variant)
Atypical hemolytic-uremic syndrome
+1 more
GPathogenic; risk factor
CFH
Deletion
(stop lost)
Hemolytic uremic syndrome, atypical, susceptibility to, 1
Grisk factor
Format
Items per page
Sort by
Choose Destination