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Links from MedGen

Items: 1 to 100 of 226

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CFH
(C385F)
Single nucleotide variant
(missense variant)
Hemolytic uremic syndrome, atypical, susceptibility to, 1
GLikely pathogenic
CFH
(C564R)
Single nucleotide variant
(missense variant)
Hemolytic uremic syndrome, atypical, susceptibility to, 1
GLikely pathogenic
CFH
(S1035N)
Single nucleotide variant
(missense variant)
Hemolytic uremic syndrome, atypical, susceptibility to, 1
GUncertain significance
CFH
Single nucleotide variant
(splice acceptor variant)
Hemolytic uremic syndrome, atypical, susceptibility to, 1
GPathogenic
CFH
(C870Y)
Single nucleotide variant
(missense variant)
Hemolytic uremic syndrome, atypical, susceptibility to, 1
GLikely pathogenic
CFH
Single nucleotide variant
(splice acceptor variant)
Hemolytic uremic syndrome, atypical, susceptibility to, 1
GLikely pathogenic
CFH
(T95N)
Single nucleotide variant
(missense variant)
Hemolytic uremic syndrome, atypical, susceptibility to, 1
GUncertain significance
CFHR3
(V257fs +1 more)
Insertion
(frameshift variant)
Hemolytic uremic syndrome, atypical, susceptibility to, 1
GUncertain significance
CFH
(L992*)
Single nucleotide variant
(nonsense)
Hemolytic uremic syndrome, atypical, susceptibility to, 1
GLikely pathogenic
CFH
(C1102W)
Single nucleotide variant
(missense variant)
Basal laminar drusen
+3 more
GUncertain significance
CFH
Deletion
(nonsense)
Factor H deficiency
+1 more
GLikely pathogenic
CFH
(P599T)
Single nucleotide variant
(missense variant)
not provided
+4 more
GUncertain significance
CFH
(E677G)
Single nucleotide variant
(missense variant)
Age related macular degeneration 4
+4 more
GUncertain significance
CFH
(R1040G)
Single nucleotide variant
(missense variant)
Age related macular degeneration 4
+5 more
GUncertain significance
CFH
Single nucleotide variant
(synonymous variant)
Kidney disorder
+5 more
GLikely benign
CFH
(P258L)
Single nucleotide variant
(missense variant)
not provided
+5 more
GUncertain significance
CFH
(H1165Y)
Single nucleotide variant
(missense variant)
Basal laminar drusen
+4 more
GUncertain significance
CFH
(V1054I)
Single nucleotide variant
(missense variant)
Basal laminar drusen
+4 more
GUncertain significance
CFH
(I1150R)
Single nucleotide variant
(missense variant)
Hemolytic uremic syndrome, atypical, susceptibility to, 1
GUncertain significance
CFHR1
Deletion
(nonsense)
Hemolytic uremic syndrome, atypical, susceptibility to, 1
+2 more
GConflicting classifications of pathogenicity
CFH
(R582H)
Single nucleotide variant
(missense variant)
Age related macular degeneration 4
+4 more
GUncertain significance
CFH
Duplication
(intron variant)
Age related macular degeneration 4
+5 more
GBenign/Likely benign
CFH
Single nucleotide variant
(intron variant)
Hemolytic uremic syndrome, atypical, susceptibility to, 1
+4 more
GLikely benign
CFH
Single nucleotide variant
(intron variant)
Hemolytic uremic syndrome, atypical, susceptibility to, 1
+4 more
GLikely benign
CFH
Single nucleotide variant
(intron variant)
Basal laminar drusen
+4 more
GLikely benign
CFH
Single nucleotide variant
(synonymous variant)
Factor H deficiency
+4 more
GLikely benign
CFH
Single nucleotide variant
(intron variant)
not provided
+4 more
GBenign/Likely benign
CFH
Single nucleotide variant
(intron variant)
Basal laminar drusen
+4 more
GLikely benign
CFH
(V941F)
Single nucleotide variant
(missense variant)
Hemolytic uremic syndrome, atypical, susceptibility to, 1
+4 more
GBenign/Likely benign
CFH
Deletion
(intron variant)
Basal laminar drusen
+4 more
GBenign/Likely benign
CFH
Single nucleotide variant
(synonymous variant)
Kidney disorder
+5 more
GConflicting classifications of pathogenicity
CFH
Single nucleotide variant
(synonymous variant)
Factor H deficiency
+4 more
GBenign/Likely benign
CFH
Single nucleotide variant
(synonymous variant)
Age related macular degeneration 4
+5 more
GBenign/Likely benign
CFH
Duplication
(intron variant)
Basal laminar drusen
+4 more
GBenign/Likely benign
CFH
Single nucleotide variant
(synonymous variant)
Hemolytic uremic syndrome, atypical, susceptibility to, 1
+4 more
GLikely benign
CFH
Single nucleotide variant
(synonymous variant)
Factor H deficiency
+4 more
GLikely benign
CFH
(K666N)
Single nucleotide variant
(missense variant)
not provided
+4 more
GUncertain significance
CFH
(N638S)
Single nucleotide variant
(missense variant)
not provided
+4 more
GUncertain significance
CFH
(T504M)
Single nucleotide variant
(missense variant)
not provided
+5 more
GUncertain significance
CFH
(I685T)
Single nucleotide variant
(missense variant)
Age related macular degeneration 4
+4 more
GUncertain significance
CFH
(E625*)
Single nucleotide variant
(nonsense)
Basal laminar drusen
+4 more
GPathogenic/Likely pathogenic
CFH
(V683M)
Single nucleotide variant
(missense variant)
Age related macular degeneration 4
+5 more
GUncertain significance
CFH
(R830W)
Single nucleotide variant
(missense variant)
Hemolytic uremic syndrome, atypical, susceptibility to, 1
+4 more
GUncertain significance
CFH
(I1120F)
Single nucleotide variant
(missense variant)
Hemolytic uremic syndrome, atypical, susceptibility to, 1
+4 more
GUncertain significance
CFH
(W71*)
Single nucleotide variant
(nonsense)
not provided
+5 more
GPathogenic/Likely pathogenic
CFH
(T724K)
Single nucleotide variant
(missense variant)
not provided
+4 more
GUncertain significance
CFH
(R1044G)
Single nucleotide variant
(missense variant)
Age related macular degeneration 4
+4 more
GUncertain significance
CFH
Single nucleotide variant
(intron variant)
Age related macular degeneration 4
+4 more
GUncertain significance
CFH
(S159N)
Single nucleotide variant
(missense variant)
Factor H deficiency
+4 more
GUncertain significance
CFH
(V111E)
Single nucleotide variant
(missense variant)
not provided
+4 more
GUncertain significance
CFH
(V641A)
Single nucleotide variant
(missense variant)
Age related macular degeneration 4
+4 more
GUncertain significance
CFH
(G297S)
Single nucleotide variant
(missense variant)
Factor H deficiency
+4 more
GUncertain significance
CFH
(T732M)
Single nucleotide variant
(missense variant)
Factor H deficiency
+4 more
GUncertain significance
CFH
(A806S)
Single nucleotide variant
(missense variant)
Hemolytic uremic syndrome, atypical, susceptibility to, 1
+4 more
GUncertain significance
CFH
(I492V)
Single nucleotide variant
(missense variant)
Hemolytic uremic syndrome, atypical, susceptibility to, 1
+4 more
GUncertain significance
CFH
(N819S)
Single nucleotide variant
(missense variant)
Factor H deficiency
+4 more
GUncertain significance
CFH
(R166L)
Single nucleotide variant
(missense variant)
Factor H deficiency
+4 more
GUncertain significance
CFH
(A892V)
Single nucleotide variant
(missense variant)
Basal laminar drusen
+5 more
GUncertain significance
CFH
(F176L)
Single nucleotide variant
(missense variant)
Hemolytic uremic syndrome, atypical, susceptibility to, 1
+4 more
GUncertain significance
CFH
(T34S)
Single nucleotide variant
(missense variant)
Basal laminar drusen
+4 more
GUncertain significance
CFH
(E189K)
Single nucleotide variant
(missense variant)
not provided
+4 more
GUncertain significance
CFH
(R582C)
Single nucleotide variant
(missense variant)
Age related macular degeneration 4
+4 more
GUncertain significance
CFH
(R1206C)
Single nucleotide variant
(missense variant)
Hemolytic uremic syndrome, atypical, susceptibility to, 1
GLikely pathogenic
CFH
Single nucleotide variant
(synonymous variant)
not provided
+5 more
GLikely benign
CFH
(K224N)
Single nucleotide variant
(missense variant)
Hemolytic uremic syndrome, atypical, susceptibility to, 1
+1 more
GConflicting classifications of pathogenicity
CFH
(T645M)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+5 more
GUncertain significance
CFH
(C691S)
Single nucleotide variant
(missense variant)
not provided
+4 more
GUncertain significance
CFH
Single nucleotide variant
(synonymous variant)
Basal laminar drusen
+6 more
GBenign/Likely benign
CFH
Single nucleotide variant
(intron variant)
Age related macular degeneration 4
+4 more
GBenign
CFH
(I453L)
Single nucleotide variant
(missense variant)
Atypical hemolytic-uremic syndrome with I factor anomaly
+4 more
GUncertain significance
CFH
Single nucleotide variant
(intron variant)
not provided
+4 more
GBenign
CFH
Duplication
(intron variant)
Age related macular degeneration 4
+5 more
GBenign/Likely benign
CFH
Duplication
(intron variant)
not specified
+6 more
GBenign
CFHR3
(I219fs +1 more)
Deletion
(frameshift variant)
not specified
+3 more
GUncertain significance
CFH
(Q1076E)
Single nucleotide variant
(missense variant)
Atypical hemolytic-uremic syndrome
+5 more
GUncertain significance
CFH
(G918E)
Single nucleotide variant
(missense variant)
not provided
+5 more
GUncertain significance
CFH
(I622V)
Single nucleotide variant
(missense variant)
not provided
+4 more
GUncertain significance
CFH
(H371N)
Single nucleotide variant
(missense variant)
not provided
+4 more
GUncertain significance
CFH
(G255E)
Single nucleotide variant
(missense variant)
Age related macular degeneration 4
+4 more
GUncertain significance
CFH
(T41I)
Single nucleotide variant
(missense variant)
Age related macular degeneration 4
+4 more
GUncertain significance
CFH
Single nucleotide variant
(intron variant)
Age related macular degeneration 4
+4 more
GLikely benign
CFH
Single nucleotide variant
(synonymous variant)
Basal laminar drusen
+4 more
GLikely benign
CFH
Single nucleotide variant
(intron variant)
not provided
+4 more
GLikely benign
CFH
Single nucleotide variant
(synonymous variant)
not provided
+4 more
GLikely benign
CFH
(R53C)
Single nucleotide variant
(missense variant)
Hemolytic uremic syndrome, atypical, susceptibility to, 1
+4 more
GPathogenic/Likely pathogenic
CFH
(A1027P)
Single nucleotide variant
(missense variant)
not provided
+4 more
GUncertain significance
CFH
(Y243H)
Single nucleotide variant
(missense variant)
Age related macular degeneration 4
+4 more
GUncertain significance
CFH
(H169R)
Single nucleotide variant
(missense variant)
Age related macular degeneration 4
+5 more
GUncertain significance
CFH
(R166Q)
Single nucleotide variant
(missense variant)
Basal laminar drusen
+4 more
GUncertain significance
CFH
(D1119E)
Single nucleotide variant
(missense variant)
Basal laminar drusen
+4 more
GUncertain significance
CFH
(A1057T)
Single nucleotide variant
(missense variant)
not provided
+4 more
GUncertain significance
CFHR1
(D160N +7 more)
Single nucleotide variant
(missense variant)
Hemolytic uremic syndrome, atypical, susceptibility to, 1
GUncertain significance
CFH
(F717L)
Single nucleotide variant
(missense variant)
Age related macular degeneration 4
+4 more
GUncertain significance
CFH
(I216T)
Single nucleotide variant
(missense variant)
Hemolytic uremic syndrome, atypical, susceptibility to, 1
+5 more
GUncertain significance
CFH
(V158I)
Single nucleotide variant
(missense variant)
Basal laminar drusen
+4 more
GUncertain significance
CFH
(Q400K)
Single nucleotide variant
(missense variant)
Basal laminar drusen
+4 more
GUncertain significance
CFH
(V609I)
Single nucleotide variant
(missense variant)
Factor H deficiency
+4 more
GUncertain significance
CFH
(G539V)
Single nucleotide variant
(missense variant)
Hemolytic uremic syndrome, atypical, susceptibility to, 1
GUncertain significance
CFH
(M11I)
Single nucleotide variant
(missense variant)
Factor H deficiency
+5 more
GUncertain significance
CFH
Single nucleotide variant
(intron variant)
not provided
+4 more
GConflicting classifications of pathogenicity
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