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Recognized gene
CFH
Normalized c.HGVS
c.1091C>T, c.1114A>G, c.1151C>G, c.1151C>T, c.1198C>A and 45 more
Normalized p.HGVS
p.(Ala1010Thr), p.(Ala161Ser), p.(Ala18Ser), p.(Ala73Val), p.(Ala806Ser) and 45 more
Matching records
187
PM3-positive records
20
Results are ordered by PM3-relevant evidence first. Reviewed source only indicates whether main text, supplementary material, or both were reviewed; it is not the evidence conclusion.
| Gene | Variant | Evidence | PM3 context | Publication | Reviewed source | Actions |
|---|---|---|---|---|---|---|
| CFH |
NM_000186.4:c.2488C>T
|
Phase-unconfirmed biallelic evidence
Needs review
|
Possible compound heterozygous with K155Q
context: Compound heterozygous candidate
|
37744338
Genetic investigation of Nordic patients with complement-mediated kidney diseases.
Frontiers in immunology, 2023
|
Supplementary material | |
| CFH |
NM_000186.4:c.2650T>C
|
Phase-unconfirmed biallelic evidence
High confidence
|
Homozygous for query variant
context: Homozygous evidence
|
36699080
Drug-induced thrombotic microangiopathy: An updated review of causative drugs, pathophysiology, and management.
Frontiers in pharmacology, 2023
|
Main article | |
| CFH |
NM_000186.4:c.122C>T
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with homozygous deletion of CFHR1
context: Compound heterozygous candidate
|
36160640
Clinical Utility and Potential Cost Savings of Pharmacologic Monitoring of Eculizumab for Complement-Mediated Thrombotic Microangiopathy.
Mayo Clinic proceedings. Innovations, quality & outcomes, 2022
|
Main article | |
| CFH |
NM_000186.4:c.1507C>G
|
Phase-unconfirmed biallelic evidence
High confidence
|
Homozygous for query variant
context: Homozygous evidence
|
35930268
Consequences of a Rare Complement Factor H Variant for Age-Related Macular Degeneration in the Amish.
Investigative ophthalmology & visual science, 2022
|
Main article | |
| CFH |
NM_000186.4:c.1198C>A
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.3148A>T; p.Asn1050Tyr
context: Compound heterozygous candidate
|
34508573
Systemic complement levels in patients with age-related macular degeneration carrying rare or low-frequency variants in the CFH gene.
Human molecular genetics, 2022
|
Main article | |
| CFH |
NM_000186.4:c.3130A>G
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.3148A>T; p.Asn1050Tyr
context: Compound heterozygous candidate
|
34508573
Systemic complement levels in patients with age-related macular degeneration carrying rare or low-frequency variants in the CFH gene.
Human molecular genetics, 2022
|
Main article | |
| CFH |
NM_000186.4:c.481G>T
|
Phase-unconfirmed biallelic evidence
High confidence
|
Confirmed in trans with c.2850G>T; p.Gln950His
context: Confirmed in trans
|
34508573
Systemic complement levels in patients with age-related macular degeneration carrying rare or low-frequency variants in the CFH gene.
Human molecular genetics, 2022
|
Main article | |
| CFH |
NM_000186.4:c.481G>T
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with p.Gln950His
context: Compound heterozygous candidate
|
36246952
Genetic Risk in Families with Age-Related Macular Degeneration.
Ophthalmology science, 2021
|
Supplementary material | |
| CFH |
NM_000186.4:c.2753G>A
|
Phase-unconfirmed biallelic evidence
High confidence
|
Confirmed in trans with N1050Y
context: Confirmed in trans
|
34912830
Clinicopathologic Implications of Complement Genetic Variants in Kidney Transplantation.
Frontiers in medicine, 2021
|
Main article | |
| CFH |
NM_000186.4:c.2650T>C
|
Phase-unconfirmed biallelic evidence
High confidence
|
Homozygous for query variant
context: Homozygous evidence
|
34679405
Safety and Efficacy of Eculizumab Therapy in Multiple Sclerosis: A Case Series.
Brain sciences, 2021
|
Main article | |
| CFH |
NM_000186.4:c.1825G>A
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with [1825G>A]; p.D1119N; p.T1383N; +1 more
context: Compound heterozygous candidate
|
34189567
Functional characterization of 105 factor H variants associated with aHUS: lessons for variant classification.
Blood, 2021
|
Supplementary material | |
| CFH |
NM_000186.4:c.3079G>C
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with V158I
context: Compound heterozygous candidate
|
34189567
Functional characterization of 105 factor H variants associated with aHUS: lessons for variant classification.
Blood, 2021
|
Supplementary material | |
| CFH |
NM_000186.4:c.3160G>A
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.2957-1A>G
context: Compound heterozygous candidate
|
34189567
Functional characterization of 105 factor H variants associated with aHUS: lessons for variant classification.
Blood, 2021
|
Supplementary material | |
| CFH |
NM_000186.4:c.332T>A
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with V1197A
context: Compound heterozygous candidate
|
34189567
Functional characterization of 105 factor H variants associated with aHUS: lessons for variant classification.
Blood, 2021
|
Supplementary material | |
| CFH |
NM_000186.4:c.388G>A
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.26T>C; Leu9Pro
context: Compound heterozygous candidate
|
34631043
Outcome of atypical haemolytic uraemic syndrome relapse after eculizumab withdrawal.
Clinical kidney journal, 2020
|
Main article | |
| CFH |
NM_000186.4:c.526T>C
|
Phase-unconfirmed biallelic evidence
Needs review
|
Possible compound heterozygous with p.Arg1215Gln
context: Compound heterozygous candidate
|
30039480
Safety and effectiveness of eculizumab for pediatric patients with atypical hemolytic-uremic syndrome in Japan: interim analysis of post-marketing surveillance.
Clinical and experimental nephrology, 2019
|
Main article | |
| CFH |
NM_000186.4:c.2151C>A
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with A892V; G334A; G650V; +2 more
context: Compound heterozygous candidate
|
29327071
Diseases of complement dysregulation-an overview.
Seminars in immunopathology, 2018
|
Main article | |
| CFH |
NM_000186.4:c.2675C>T
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with P76X
context: Compound heterozygous candidate
|
29327071
Diseases of complement dysregulation-an overview.
Seminars in immunopathology, 2018
|
Main article | |
| CFH |
NM_000186.4:c.388G>A
|
Phase-unconfirmed biallelic evidence
High confidence
|
Homozygous for query variant
context: Homozygous evidence
|
29327071
Diseases of complement dysregulation-an overview.
Seminars in immunopathology, 2018
|
Main article | |
| CFH |
NM_000186.4:c.1699A>G
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.2171delC; c.3350A>G; p.Asn1117Ser; +1 more
context: Compound heterozygous candidate
|
23235567
Atypical postinfectious glomerulonephritis is associated with abnormalities in the alternative pathway of complement.
Kidney international, 2013
|
Main article | |