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Items: 14

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CFHR2
Single nucleotide variant
(5 prime UTR variant)
not provided
GUncertain significance
CFHR2
Deletion
(nonsense)
not provided
GUncertain significance
CFHR2
(S11P)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CFHR2
(R12Q)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CFHR2
(K27E)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
CFHR2
(R69L)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
CFHR2
(I70V)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
CFHR2
(A73T)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
CFHR2
(P153S +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CFHR2
(Q131K +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CFHR2
(E75* +1 more)
Single nucleotide variant
(nonsense)
not provided
+1 more
GConflicting classifications of pathogenicity
CFHR2
(E150G +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CFHR2
(I219fs +1 more)
Deletion
(frameshift variant)
not provided
GConflicting classifications of pathogenicity
CFHR2
(R254Q +2 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
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