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Items: 1 to 100 of 833

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC129388668, LOC129388669
+477 more
Copy number loss
See cases
GPathogenic
LOC129932244, LOC129932245
+1147 more
Copy number gain
See cases
GPathogenic
ASPM, ATP6V1G3
+173 more
Copy number loss
See cases
GPathogenic
ASPM, CFH
+36 more
Copy number loss
See cases
GPathogenic
CFH, CFHR3
+5 more
Copy number loss
See cases
GUncertain significance
CFH, CFHR1
+12 more
Copy number loss
Breast ductal adenocarcinoma
GUncertain significance
CFH
Single nucleotide variant
not provided
+1 more
GBenign
CFH
Single nucleotide variant
CFH-related condition
GLikely benign
CFH
Single nucleotide variant
not provided
GBenign
CFH
Single nucleotide variant
not provided
+5 more
GBenign
CFH
Single nucleotide variant
Age related macular degeneration 4
+3 more
GUncertain significance
CFH
Single nucleotide variant
Age related macular degeneration 4
+3 more
GBenign/Likely benign
CFH
Single nucleotide variant
Age related macular degeneration 4
+3 more
GLikely benign
CFH
Single nucleotide variant
(5 prime UTR variant)
Basal laminar drusen
+3 more
GUncertain significance
CFH
Single nucleotide variant
(5 prime UTR variant)
Age related macular degeneration 4
+3 more
GBenign/Likely benign
CFH
Single nucleotide variant
(5 prime UTR variant)
not provided
GUncertain significance
CFH
(R2T)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CFH
(L3V)
Single nucleotide variant
(missense variant)
not provided
+5 more
GConflicting classifications of pathogenicity
CFH
(L4P)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CFH
(A5V)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CFH
(K6E)
Single nucleotide variant
(missense variant)
Hemolytic uremic syndrome, atypical, susceptibility to, 1
+4 more
GConflicting classifications of pathogenicity
CFH
(M11T)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CFH
(M11I)
Single nucleotide variant
(missense variant)
Factor H deficiency
+5 more
GUncertain significance
CFH
(L12S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CFH
(I15T)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CFH
(C16fs)
Deletion
(frameshift variant)
Atypical hemolytic-uremic syndrome
GLikely pathogenic
CFH
(V17I)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CFH
(V17G)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CFH
(A18S)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CFH
(D20N)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
CFH
Single nucleotide variant
(splice donor variant)
not provided
GLikely pathogenic
CFH
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
CFH
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
CFH
Single nucleotide variant
(intron variant)
not provided
GLikely benign
CFH
Single nucleotide variant
(intron variant)
not specified
GLikely benign
CFH
Single nucleotide variant
(intron variant)
not provided
GLikely benign
CFH
Deletion
(intron variant)
not provided
GBenign
CFH
Single nucleotide variant
(intron variant)
not provided
GBenign
CFH
Single nucleotide variant
(intron variant)
not provided
GBenign
CFH
Single nucleotide variant
(intron variant)
not provided
+4 more
GBenign
CFH
Single nucleotide variant
(intron variant)
not provided
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)
Hemolytic uremic syndrome, atypical, susceptibility to, 1
GUncertain significance
CFH
(N22S)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CFH
(E23K)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CFH
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CFH
(P25S)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CFH
(R28fs)
Deletion
(frameshift variant)
Hemolytic uremic syndrome, atypical, susceptibility to, 1
Grisk factor
CFH
(I32N)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CFH
(T34S)
Single nucleotide variant
(missense variant)
Basal laminar drusen
+4 more
GUncertain significance
CFH
(G35S)
Single nucleotide variant
(missense variant)
Basal laminar drusen
+3 more
GUncertain significance
CFH
(D39G)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CFH
(T41I)
Single nucleotide variant
(missense variant)
Age related macular degeneration 4
+4 more
GUncertain significance
CFH
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CFH
(Y42F)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CFH
(G45S)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CFH
(T46A)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CFH
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CFH
(A48V)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CFH
(I49V)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CFH
(I49T)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CFH
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CFH
(R53C)
Single nucleotide variant
(missense variant)
Hemolytic uremic syndrome, atypical, susceptibility to, 1
+4 more
GPathogenic/Likely pathogenic
CFH
(R53H)
Single nucleotide variant
(missense variant)
not provided
GLikely pathogenic
CFH
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CFH
(G55R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CFH
(S58A)
Single nucleotide variant
(missense variant)
Age related macular degeneration 4
+4 more
GConflicting classifications of pathogenicity
CFH
(L59P)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CFH
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CFH
(V62I)
Single nucleotide variant
(missense variant)
not provided
+6 more
GBenign
CFH
Single nucleotide variant
(synonymous variant)
not provided
GUncertain significance
CFH
(G69R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CFH
(W71*)
Single nucleotide variant
(nonsense)
Age related macular degeneration 4
+5 more
GPathogenic/Likely pathogenic
CFH
(V72I)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CFH
(A73V)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CFH
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CFH
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CFH
(L74V)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CFH
(N75H)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CFH
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CFH
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CFH
Single nucleotide variant
(intron variant)
not provided
GLikely benign
CFH
Duplication
(intron variant)
Basal laminar drusen
+4 more
GBenign/Likely benign
CFH
Duplication
(intron variant)
Age related macular degeneration 4
+5 more
GBenign/Likely benign
CFH
Duplication
(intron variant)
not specified
+6 more
GBenign
CFH
Deletion
(intron variant)
not provided
GLikely benign
CFH
Deletion
(intron variant)
Basal laminar drusen
+4 more
GBenign/Likely benign
CFH
Single nucleotide variant
(intron variant)
Age related macular degeneration 4
+4 more
GLikely benign
CFH
Single nucleotide variant
(intron variant)
Hemolytic uremic syndrome, atypical, susceptibility to, 1
+4 more
GConflicting classifications of pathogenicity
CFH
Insertion
(intron variant)
not provided
GBenign
CFH
Single nucleotide variant
(intron variant)
not provided
GLikely benign
CFH
Single nucleotide variant
(intron variant)
Basal laminar drusen
+4 more
GLikely benign
CFH
Single nucleotide variant
(intron variant)
Hemolytic uremic syndrome, atypical, susceptibility to, 1
+6 more
GBenign/Likely benign
CFH
(K82R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CFH
(D90G)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CFH
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CFH
(T91S)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CFH
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CFH
(P92L)
Single nucleotide variant
(missense variant)
Age related macular degeneration 4
+4 more
GUncertain significance
CFH
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
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