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Links from MedGen

Items: 71

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)		Review status
1.
GRCh37:
Chr4:110687776
GRCh38:
Chr4:109766620
CFIQ88KFactor I deficiencyUncertain significance
(Mar 23, 2023)		criteria provided, single submitter
2.
GRCh37:
Chr4:110687847
GRCh38:
Chr4:109766691
CFIP64LFactor I deficiency, not providedUncertain significance
(Mar 23, 2023)		criteria provided, multiple submitters, no conflicts
3.
GRCh37:
Chr4:110681506
GRCh38:
Chr4:109760350
CFIS268L, S65LFactor I deficiencyUncertain significance
(May 22, 2022)		criteria provided, single submitter
4.
GRCh37:
Chr4:110682785
GRCh38:
Chr4:109761629
CFIFactor I deficiency, Atypical hemolytic-uremic syndrome with I factor anomaly, Age related macular degeneration 13,
not provided		Likely benign
(Mar 4, 2022)		criteria provided, multiple submitters, no conflicts
5.
GRCh37:
Chr4:110663770
GRCh38:
Chr4:109742614
CFInot provided, Factor I deficiency, Atypical hemolytic-uremic syndrome with I factor anomaly,
Age related macular degeneration 13		Likely benign
(Oct 17, 2022)		criteria provided, multiple submitters, no conflicts
6.
GRCh37:
Chr4:110723116
GRCh38:
Chr4:109801960
CFInot provided, Factor I deficiency, Age related macular degeneration 13,
Atypical hemolytic-uremic syndrome with I factor anomaly		Likely benign
(Sep 19, 2022)		criteria provided, multiple submitters, no conflicts
7.
GRCh37:
Chr4:110681722
GRCh38:
Chr4:109760566
CFIFactor I deficiency, Age related macular degeneration 13, Atypical hemolytic-uremic syndrome with I factor anomaly,
not provided		Likely benign
(Mar 11, 2022)		criteria provided, multiple submitters, no conflicts
8.
GRCh37:
Chr4:110687846
GRCh38:
Chr4:109766690
CFInot provided, Atypical hemolytic-uremic syndrome with I factor anomaly, Factor I deficiency,
Age related macular degeneration 13		Likely benign
(Dec 29, 2021)		criteria provided, multiple submitters, no conflicts
9.
GRCh37:
Chr4:110681746
GRCh38:
Chr4:109760590
CFInot provided, Atypical hemolytic-uremic syndrome with I factor anomaly, Factor I deficiency,
Age related macular degeneration 13		Likely benign
(Feb 26, 2022)		criteria provided, multiple submitters, no conflicts
10.
GRCh37:
Chr4:110662145
GRCh38:
Chr4:109740989
CFIFactor I deficiency, Atypical hemolytic-uremic syndrome with I factor anomaly, Age related macular degeneration 13,
not provided		Likely benign
(Feb 26, 2022)		criteria provided, multiple submitters, no conflicts
11.
GRCh37:
Chr4:110685746
GRCh38:
Chr4:109764590
CFInot provided, Factor I deficiency, Atypical hemolytic-uremic syndrome with I factor anomaly,
Age related macular degeneration 13		Likely benign
(Sep 19, 2022)		criteria provided, multiple submitters, no conflicts
12.
GRCh37:
Chr4:110685686
GRCh38:
Chr4:109764530
CFIAge related macular degeneration 13, Atypical hemolytic-uremic syndrome with I factor anomaly, Factor I deficiency,
not provided		Likely benign
(Oct 19, 2022)		criteria provided, multiple submitters, no conflicts
13.
GRCh37:
Chr4:110682801
GRCh38:
Chr4:109761645
CFIN177Inot provided, Factor I deficiency, Atypical hemolytic-uremic syndrome with I factor anomaly,
Age related macular degeneration 13		Uncertain significance
(Jul 30, 2022)		criteria provided, multiple submitters, no conflicts
14.
GRCh37:
Chr4:110681789
GRCh38:
Chr4:109760633
CFIS18Y, S221YAge related macular degeneration 13, Factor I deficiency, Atypical hemolytic-uremic syndrome with I factor anomaly,
not provided		Uncertain significance
(Feb 18, 2022)		criteria provided, multiple submitters, no conflicts
15.
GRCh37:
Chr4:110687845
GRCh38:
Chr4:109766689
CFIY65HFactor I deficiency, not provided, Age related macular degeneration 13,
Factor I deficiency, Atypical hemolytic-uremic syndrome with I factor anomaly, Atypical hemolytic-uremic syndrome
Uncertain significance
(Sep 5, 2022)		criteria provided, multiple submitters, no conflicts
16.
GRCh37:
Chr4:110667657
GRCh38:
Chr4:109746501
CFIA365T, A377T, A384T, A181T, A392Tnot provided, Age related macular degeneration 13, Factor I deficiency,
Atypical hemolytic-uremic syndrome with I factor anomaly		Uncertain significance
(Sep 17, 2022)		criteria provided, multiple submitters, no conflicts
17.
GRCh37:
Chr4:110663727-110663731
GRCh38:
Chr4:109742571-109742575
CFIL465fs, L281fs, L477fs, L484fs, L492fsnot provided, Factor I deficiencyPathogenic
(Sep 14, 2022)		criteria provided, multiple submitters, no conflicts
18.
GRCh37:
Chr4:110681679
GRCh38:
Chr4:109760523
CFIA258T, A55Tnot provided, Atypical hemolytic-uremic syndrome with I factor anomaly, Factor I deficiency,
Age related macular degeneration 13		Pathogenic/Likely pathogenic
(Oct 23, 2022)		criteria provided, multiple submitters, no conflicts
19.
GRCh37:
Chr4:110667408
GRCh38:
Chr4:109746252
CFIC460R, C475R, C264R, C448R, C467RAtypical hemolytic-uremic syndrome with I factor anomaly, Age related macular degeneration 13, Factor I deficiency,
not provided		Uncertain significance
(May 9, 2022)		criteria provided, multiple submitters, no conflicts
20.
GRCh37:
Chr4:110685837
GRCh38:
Chr4:109764681
CFIS113NAge related macular degeneration 13, Factor I deficiency, Atypical hemolytic-uremic syndrome with I factor anomaly,
Atypical hemolytic-uremic syndrome, not provided		Uncertain significance
(Aug 19, 2022)		criteria provided, multiple submitters, no conflicts
21.
GRCh37:
Chr4:110687790
GRCh38:
Chr4:109766634
CFIP83RFactor I deficiency, not providedUncertain significance
(Sep 1, 2022)		criteria provided, multiple submitters, no conflicts
22.
GRCh37:
Chr4:110681461
GRCh38:
Chr4:109760305
CFID283G, D80GAge related macular degeneration 13, Factor I deficiency, Atypical hemolytic-uremic syndrome with I factor anomaly,
not provided		Uncertain significance
(Oct 30, 2022)		criteria provided, multiple submitters, no conflicts
23.
GRCh37:
Chr4:110687908
GRCh38:
Chr4:109766752
CFID44NAge related macular degeneration 13, Factor I deficiency, Atypical hemolytic-uremic syndrome with I factor anomaly,
not provided		Uncertain significance
(Jun 16, 2022)		criteria provided, multiple submitters, no conflicts
24.
GRCh37:
Chr4:110682730
GRCh38:
Chr4:109761574
CFIR201GAge related macular degeneration 13, Factor I deficiency, Atypical hemolytic-uremic syndrome with I factor anomaly,
not provided		Uncertain significance
(Apr 6, 2022)		criteria provided, multiple submitters, no conflicts
25.
GRCh37:
Chr4:110670683
GRCh38:
Chr4:109749527
CFIR339Q, R347Q, R136Q, R320Q, R332Qnot provided, Age related macular degeneration 13, Factor I deficiency,
Atypical hemolytic-uremic syndrome with I factor anomaly		Uncertain significance
(Dec 23, 2021)		criteria provided, multiple submitters, no conflicts
26.
GRCh37:
Chr4:110670459
GRCh38:
Chr4:109749303
CFIV336M, V355M, V363M, V348M, V152MAtypical hemolytic-uremic syndrome with I factor anomaly, Age related macular degeneration 13, Factor I deficiency,
Atypical hemolytic-uremic syndrome, not provided		Uncertain significance
(Jul 21, 2022)		criteria provided, multiple submitters, no conflicts
27.
GRCh37:
Chr4:110687713
GRCh38:
Chr4:109766557
CFIE109KAtypical hemolytic-uremic syndrome with I factor anomaly, Age related macular degeneration 13, Factor I deficiency,
not provided		Uncertain significance
(Sep 27, 2022)		criteria provided, multiple submitters, no conflicts
28.
GRCh37:
Chr4:110663702
GRCh38:
Chr4:109742546
CFIS290R, S474R, S486R, S501R, S493RAtypical hemolytic-uremic syndrome with I factor anomaly, Age related macular degeneration 13, Factor I deficiency,
not provided		Uncertain significance
(Sep 9, 2022)		criteria provided, multiple submitters, no conflicts
29.
GRCh37:
Chr4:110687758
GRCh38:
Chr4:109766602
CFIL94FAge related macular degeneration 13, Factor I deficiency, Atypical hemolytic-uremic syndrome with I factor anomaly,
not provided		Uncertain significance
(Mar 29, 2022)		criteria provided, multiple submitters, no conflicts
30.
GRCh37:
Chr4:110685736
GRCh38:
Chr4:109764580
CFIM147VAge related macular degeneration 13, Factor I deficiency, Atypical hemolytic-uremic syndrome with I factor anomaly,
not provided		Uncertain significance
(Sep 7, 2022)		criteria provided, multiple submitters, no conflicts
31.
GRCh37:
Chr4:110667591
GRCh38:
Chr4:109746435
CFIR203C, R399C, R414C, R406C, R387Cnot provided, Age related macular degeneration 13, Factor I deficiency,
Atypical hemolytic-uremic syndrome with I factor anomaly		Uncertain significance
(Oct 4, 2022)		criteria provided, multiple submitters, no conflicts
32.
GRCh37:
Chr4:110667516
GRCh38:
Chr4:109746360
CFIA424S, A431S, A228S, A412S, A439SAge related macular degeneration 13, Factor I deficiency, Atypical hemolytic-uremic syndrome with I factor anomaly,
not provided		Uncertain significance
(Jul 18, 2022)		criteria provided, multiple submitters, no conflicts
33.
GRCh37:
Chr4:110681539
GRCh38:
Chr4:109760383
CFInot provided, Factor I deficiency, Atypical hemolytic-uremic syndrome with I factor anomaly,
Age related macular degeneration 13		Uncertain significance
(Mar 22, 2022)		criteria provided, multiple submitters, no conflicts
34.
GRCh37:
Chr4:110681618
GRCh38:
Chr4:109760462
CFIFactor I deficiency, not providedBenign
(Jul 22, 2021)		criteria provided, multiple submitters, no conflicts
35.
GRCh37:
Chr4:110679002
GRCh38:
Chr4:109757846
CFIFactor I deficiency, not providedBenign
(Jul 22, 2021)		criteria provided, multiple submitters, no conflicts
36.
GRCh37:
Chr4:110670807
GRCh38:
Chr4:109749651
CFIFactor I deficiency, not providedBenign
(Jul 22, 2021)		criteria provided, multiple submitters, no conflicts
37.
GRCh37:
Chr4:110662163
GRCh38:
Chr4:109741007
CFIW343*, W527*, W539*, W546*, W554*Factor I deficiency, Atypical hemolytic-uremic syndrome with I factor anomaly, Age related macular degeneration 13
Likely pathogenic
(Jun 30, 2021)		criteria provided, single submitter
38.
GRCh37:
Chr4:110681670-110681688
GRCh38:
Chr4:109760514-109760532
CFIFactor I deficiency, Atypical hemolytic-uremic syndrome with I factor anomaly, Age related macular degeneration 13
Pathogenic
(Jun 30, 2021)		criteria provided, single submitter
39.
GRCh37:
Chr4:110685853-110685854
GRCh38:
Chr4:109764697-109764698
CFIAge related macular degeneration 13, Atypical hemolytic-uremic syndrome with I factor anomaly, Factor I deficiency,
not provided		Benign/Likely benign
(Oct 15, 2022)		criteria provided, multiple submitters, no conflicts
40.
GRCh37:
Chr4:110667377
GRCh38:
Chr4:109746221
CFInot provided, Atypical hemolytic-uremic syndrome, Atypical hemolytic-uremic syndrome with I factor anomaly,
Age related macular degeneration 13, Factor I deficiency		Pathogenic/Likely pathogenic
(Oct 2, 2022)		criteria provided, multiple submitters, no conflicts
41.
GRCh37:
Chr4:110663648
GRCh38:
Chr4:109742492
CFIAge related macular degeneration 13, Factor I deficiency, Atypical hemolytic-uremic syndrome with I factor anomaly,
not provided		Uncertain significance
(Feb 27, 2022)		criteria provided, multiple submitters, no conflicts
42.
GRCh37:
Chr4:110685751
GRCh38:
Chr4:109764595
CFIK142QAtypical hemolytic-uremic syndrome with I factor anomaly, Atypical hemolytic-uremic syndrome with I factor anomaly, Age related macular degeneration 13,
Factor I deficiency		Uncertain significance
(Feb 1, 2022)		criteria provided, multiple submitters, no conflicts
43.
GRCh37:
Chr4:110670749
GRCh38:
Chr4:109749593
CFIR317Q, R298Q, R325Q, R114Q, R310QAtypical hemolytic-uremic syndrome with I factor anomaly, Atypical hemolytic-uremic syndrome with I factor anomaly, Age related macular degeneration 13,
Factor I deficiency		Uncertain significance
(Feb 23, 2022)		criteria provided, multiple submitters, no conflicts
44.
GRCh37:
Chr4:110723127
GRCh38:
Chr4:109801971
CFIM1Vnot provided, Atypical hemolytic-uremic syndrome with I factor anomaly, Factor I deficiency,
Age related macular degeneration 13, Atypical hemolytic-uremic syndrome with I factor anomaly		Uncertain significance
(Dec 23, 2021)		criteria provided, multiple submitters, no conflicts
45.
GRCh37:
Chr4:110667429
GRCh38:
Chr4:109746273
CFIAge related macular degeneration 13, Factor I deficiency, Atypical hemolytic-uremic syndrome with I factor anomaly,
not provided		Likely benign
(Oct 28, 2021)		criteria provided, multiple submitters, no conflicts
46.
GRCh37:
Chr4:110682772
GRCh38:
Chr4:109761616
CFIR187*not provided, Atypical hemolytic-uremic syndrome with I factor anomaly, Age related macular degeneration 13,
Factor I deficiency, Atypical hemolytic-uremic syndrome with I factor anomaly		Pathogenic/Likely pathogenic
(Sep 7, 2022)		criteria provided, multiple submitters, no conflicts
47.
GRCh37:
Chr4:110663649
GRCh38:
Chr4:109742493
CFIA511V, A519V, A504V, A308V, A492VAtypical hemolytic-uremic syndrome with I factor anomaly, Age related macular degeneration 13, Factor I deficiency,
not provided, Afibrinogenemia, Atypical hemolytic-uremic syndrome with I factor anomaly,
Age related macular degeneration 13		Uncertain significance
(Mar 30, 2022)		criteria provided, multiple submitters, no conflicts
48.
GRCh37:
Chr4:110687833
GRCh38:
Chr4:109766677
CFIK69EInborn genetic diseases, Atypical hemolytic-uremic syndrome with I factor anomaly, Age related macular degeneration 13,
Factor I deficiency, not provided		Uncertain significance
(Oct 21, 2022)		criteria provided, multiple submitters, no conflicts
49.
GRCh37:
Chr4:110687876
GRCh38:
Chr4:109766720
CFIC54Wnot providedLikely pathogenic
(Aug 15, 2023)		criteria provided, single submitter
50.
GRCh37:
Chr4:110667574
GRCh38:
Chr4:109746418
CFIY411*, Y404*, Y419*, Y208*, Y392*Factor I deficiency, not provided, Age related macular degeneration 13,
Factor I deficiency, Atypical hemolytic-uremic syndrome with I factor anomaly		Likely pathogenic
(Apr 11, 2022)		criteria provided, multiple submitters, no conflicts
51.
GRCh37:
Chr4:110662092
GRCh38:
Chr4:109740936
CFIS570T, S563T, S578T, S367T, S551TAtypical hemolytic-uremic syndrome with I factor anomaly, not provided, Atypical hemolytic-uremic syndrome with I factor anomaly,
Age related macular degeneration 13, Factor I deficiency		Uncertain significance
(Oct 14, 2022)		criteria provided, multiple submitters, no conflicts
52.
GRCh37:
Chr4:110685721
GRCh38:
Chr4:109764565
CFIV152MAtypical hemolytic-uremic syndrome with I factor anomaly, not provided, Atypical hemolytic-uremic syndrome with I factor anomaly,
Age related macular degeneration 13, Factor I deficiency		Uncertain significance
(Sep 9, 2022)		criteria provided, multiple submitters, no conflicts
53.
GRCh37:
Chr4:110685723
GRCh38:
Chr4:109764567
CFIN151SFactor I deficiency, not providedConflicting interpretations of pathogenicity
(Aug 9, 2022)		criteria provided, conflicting interpretations
54.
GRCh37:
Chr4:110687719
GRCh38:
Chr4:109766563
CFIT107AAtypical hemolytic-uremic syndrome with I factor anomaly, Atypical hemolytic-uremic syndrome with I factor anomaly, Factor I deficiency,
Age related macular degeneration 13		Benign/Likely benign
(Feb 4, 2022)		criteria provided, multiple submitters, no conflicts
55.
GRCh37:
Chr4:110682791
GRCh38:
Chr4:109761635
CFIAtypical hemolytic-uremic syndrome with I factor anomaly, Atypical hemolytic-uremic syndrome with I factor anomaly, Factor I deficiency,
Age related macular degeneration 13		Likely benign
(Feb 8, 2022)		criteria provided, multiple submitters, no conflicts
56.
GRCh37:
Chr4:110681505
GRCh38:
Chr4:109760349
CFInot specified, not provided, Factor I deficiency,
Atypical hemolytic-uremic syndrome with I factor anomaly		Benign
(Nov 1, 2022)		criteria provided, multiple submitters, no conflicts
57.
GRCh37:
Chr4:110670647
GRCh38:
Chr4:109749491
CFInot provided, Atypical hemolytic-uremic syndrome with I factor anomaly, Atypical hemolytic-uremic syndrome with I factor anomaly,
Factor I deficiency, Age related macular degeneration 13		Benign/Likely benign
(Sep 26, 2022)		criteria provided, multiple submitters, no conflicts
58.
GRCh37:
Chr4:110667601
GRCh38:
Chr4:109746445
CFIKidney disorder, not provided, Atypical hemolytic-uremic syndrome with I factor anomaly,
Atypical hemolytic-uremic syndrome with I factor anomaly, Factor I deficiency, Age related macular degeneration 13
Benign/Likely benign
(Oct 31, 2022)		criteria provided, multiple submitters, no conflicts
59.
GRCh37:
Chr4:110667485
GRCh38:
Chr4:109746329
CFIK441R, K434R, K449R, K238R, K422RInborn genetic diseases, not specified, not provided,
Atypical hemolytic-uremic syndrome, Thrombotic microangiopathy, Atypical hemolytic-uremic syndrome with I factor anomaly,
Atypical hemolytic-uremic syndrome with I factor anomaly, Factor I deficiency, Age related macular degeneration 13
Conflicting interpretations of pathogenicity
(Oct 10, 2022)		criteria provided, conflicting interpretations
60.
GRCh37:
Chr4:110667370
GRCh38:
Chr4:109746214
CFInot provided, Atypical hemolytic-uremic syndrome with I factor anomaly, Atypical hemolytic-uremic syndrome with I factor anomaly,
Factor I deficiency, Age related macular degeneration 13		Benign/Likely benign
(Nov 22, 2021)		criteria provided, multiple submitters, no conflicts
61.
GRCh37:
Chr4:110663738
GRCh38:
Chr4:109742582
CFInot provided, Atypical hemolytic-uremic syndrome with I factor anomaly, Atypical hemolytic-uremic syndrome with I factor anomaly,
Factor I deficiency, Age related macular degeneration 13		Benign/Likely benign
(Oct 21, 2022)		criteria provided, multiple submitters, no conflicts
62.
GRCh37:
Chr4:110662220
GRCh38:
Chr4:109741064
CFIKidney disorder, not provided, Atypical hemolytic-uremic syndrome with I factor anomaly,
Atypical hemolytic-uremic syndrome with I factor anomaly, Factor I deficiency, Age related macular degeneration 13
Benign/Likely benign
(Sep 27, 2022)		criteria provided, multiple submitters, no conflicts
63.
GRCh37:
Chr4:110661937
GRCh38:
Chr4:109740781
CFInot provided, Factor I deficiency, Atypical hemolytic-uremic syndrome with I factor anomaly
Benign
(Jul 22, 2021)		criteria provided, multiple submitters, no conflicts
64.
GRCh37:
Chr4:110687957-110687958
GRCh38:
Chr4:109766801-109766802
CFID27fsnot provided, Atypical hemolytic-uremic syndrome, Atypical hemolytic-uremic syndrome with I factor anomaly,
Age related macular degeneration 13, Factor I deficiency		Pathogenic
(Jun 27, 2022)		criteria provided, multiple submitters, no conflicts
65.
GRCh37:
Chr4:110667629-110667630
GRCh38:
Chr4:109746473-109746474
CFIW386fs, W393fs, W401fs, W190fs, W374fsnot provided, Atypical hemolytic-uremic syndrome with I factor anomaly, Age related macular degeneration 13,
Factor I deficiency		Pathogenic
(Dec 6, 2022)		criteria provided, multiple submitters, no conflicts
66.
GRCh37:
Chr4:110663642
GRCh38:
Chr4:109742486
CFInot specified, not provided, Atypical hemolytic-uremic syndrome,
Atypical hemolytic-uremic syndrome with I factor anomaly, Age related macular degeneration 13, Atypical hemolytic-uremic syndrome with I factor anomaly,
Factor I deficiency		Benign/Likely benign
(Nov 1, 2022)		criteria provided, multiple submitters, no conflicts
67.
GRCh37:
Chr4:110685820
GRCh38:
Chr4:109764664
CFIG119RAtypical hemolytic-uremic syndrome with I factor anomaly, not provided, Factor I deficiency
Conflicting interpretations of pathogenicity
(Oct 13, 2022)		criteria provided, conflicting interpretations
68.
GRCh37:
Chr4:110681527
GRCh38:
Chr4:109760371
CFIG261D, G58Dnot provided, Atypical hemolytic-uremic syndrome, Atypical hemolytic-uremic syndrome with I factor anomaly,
Chronic kidney disease, Atypical hemolytic-uremic syndrome with I factor anomaly, Age related macular degeneration 13,
Factor I deficiency		Likely benign
(Nov 2, 2022)		criteria provided, multiple submitters, no conflicts
69.
GRCh37:
Chr4:110670750
GRCh38:
Chr4:109749594
CFIR317W, R325W, R310W, R114W, R298Wnot provided, Factor I deficiency, Age related macular degeneration 13,
Atypical hemolytic-uremic syndrome with I factor anomaly		Uncertain significance
(Sep 1, 2022)		criteria provided, multiple submitters, no conflicts
70.
GRCh37:
Chr4:110681723
GRCh38:
Chr4:109760567
CFIG243D, G40DFactor I deficiencyPathogenic
(Mar 1, 2007)		no assertion criteria provided
71.
GRCh37:
Chr4:110667554
GRCh38:
Chr4:109746398
CFIH418L, H411L, H426L, H215L, H399Lnot providedPathogenic
(Aug 15, 2023)		criteria provided, single submitter
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