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Links from Gene

Items: 13

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CFH
(C719F)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CFH
(N607fs)
Deletion
(frameshift variant)
Factor H deficiency
GPathogenic
CFH
(H373fs)
Deletion
(frameshift variant)
not provided
GLikely pathogenic
CFH
(Y243*)
Single nucleotide variant
(nonsense)
not provided
GPathogenic
CFH
(W436*)
Single nucleotide variant
(nonsense)
not provided
GPathogenic
CFH
Microsatellite
(intron variant)
Basal laminar drusen
GBenign
CFH
(V942A)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CFH
Single nucleotide variant
(synonymous variant)
not provided
GUncertain significance
CFH
(W858*)
Single nucleotide variant
(nonsense)
not provided
GUncertain significance
CFH
(P438del)
Deletion
(inframe_deletion)
not provided
GUncertain significance
CFH
(C320R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CFH
(W134C)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CFH
(G676E)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
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