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Items: 6

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CFHR3
(F34C)
Single nucleotide variant
(missense variant)
Hemolytic uremic syndrome, atypical, susceptibility to, 1
+3 more
GBenign/Likely benign
CFHR3
(R142C)
Single nucleotide variant
(missense variant)
not provided
+2 more
GBenign
CFHR3
(Q179H +1 more)
Single nucleotide variant
(missense variant)
Hemolytic uremic syndrome, atypical, susceptibility to, 1
+2 more
GBenign
CFHR3
(I269V +1 more)
Single nucleotide variant
(missense variant)
Age related macular degeneration 1
+2 more
GLikely benign
CFHR3
(I219fs +1 more)
Deletion
(frameshift variant)
not specified
+3 more
GUncertain significance
CFHR3
(I251F +1 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GBenign/Likely benign
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