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Items: 9

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CFH
(D20N)
Single nucleotide variant
(missense variant)
Factor H deficiency
+1 more
GUncertain significance
CFH
(R166Q)
Single nucleotide variant
(missense variant)
Basal laminar drusen
+4 more
GUncertain significance
CFH
(H169R)
Single nucleotide variant
(missense variant)
not provided
+5 more
GUncertain significance
CFH
(Q400K)
Single nucleotide variant
(missense variant)
Age related macular degeneration 4
+4 more
GUncertain significance
CFH
(N638S)
Single nucleotide variant
(missense variant)
Age related macular degeneration 4
+4 more
GUncertain significance
CFH
(A1057T)
Single nucleotide variant
(missense variant)
not provided
+4 more
GUncertain significance
CFH
(D1119E)
Single nucleotide variant
(missense variant)
not provided
+4 more
GUncertain significance
CFH
(V1197A)
Single nucleotide variant
(missense variant)
not provided
+4 more
GPathogenic/Likely pathogenic
CFHR1
(D160N +7 more)
Single nucleotide variant
(missense variant)
Hemolytic uremic syndrome, atypical, susceptibility to, 1
GUncertain significance
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