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Items: 1 to 100 of 405

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)		Review status
1.
GRCh37:
Chr4:97014044-137331362
GRCh38:
Chr4:96092893-136410207
ABHD18, ADAD1, ADH1A, ADH1B, ADH1C, ADH4, ADH5, ADH6, ADH7, AFG2A, AIMP1, ALPK1, ANK2, ANKRD50, ANXA5, AP1AR, AP1AR-DT, ARHGEF38, ARHGEF38-IT1, ARSJ, BANK1, BBS12, BBS7, BBS7-DT, BDH2, BLTP1, C4orf17, C4orf3, C4orf33, C4orf54, CAMK2D, CASP6, CCNA2, CENPE, CFI, CISD2, COL25A1, COL25A1-DT, CXXC4, CXXC4-AS1, CYP2U1, CYP2U1-AS1, DAPP1, DDIT4L, DDIT4L-AS1, DKK2, DNAJB14, EGF, EIF4E, ELOVL6, EMCN, ENPEP, ETNPPL, EXOSC9, FABP2, FAM241A, FAT4, FGF2, FLJ20021, GAR1, GAR1-DT, GIMD1, GSTCD, GSTCD-AS1, H2AZ1, H2AZ1-DT, HADH, HSPA4L, IL2, IL21, IL21-AS1, INTS12, INTU, JADE1, LAMTOR3, LARP1B, LARP7, LEF1, LEF1-AS1, LINC00613, LINC01061, LINC01091, LINC01216, LINC01217, LINC01218, LINC01256, LINC01365, LINC01378, LINC02173, LINC02262, LINC02263, LINC02264, LINC02267, LINC02377, LINC02379, LINC02428, LINC02462, LINC02465, LINC02466, LINC02479, LINC02485, LINC02502, LINC02503, LINC02516, LINC02615, LINC02945, LOC100507053, LOC101927259, LOC101929577, LOC101929621, LOC101929762, LOC102723704, LOC102725220, LOC105377352, LOC105377366, LOC105377438, LOC105377621, LOC107986192, LOC109113863, LOC110120634, LOC110120703, LOC110120805, LOC110120806, LOC110120819, LOC110120975, LOC110121089, LOC110121129, LOC110121138, LOC110121150, LOC111188164, LOC111216272, LOC111216273, LOC111216288, LOC111216289, LOC111216290, LOC111216291, LOC111216292, LOC111240471, LOC111413048, LOC111591508, LOC112935970, LOC112935971, LOC112935972, LOC112935973, LOC112935974, LOC112935975, LOC112935976, LOC112935977, LOC112935978, LOC112935979, LOC112935980, LOC112939918, LOC116158504, LOC116158505, LOC116158506, LOC116158507, LOC121053189, LOC121053190, LOC121053191, LOC121053192, LOC121056741, LOC121056742, LOC121056743, LOC121725179, LOC121725180, LOC121725181, LOC121725182, LOC121725183, LOC121725185, LOC121725186, LOC121725187, LOC121725188, LOC123477791, LOC123477792, LOC123477793, LOC123477794, LOC123477795, LOC123477796, LOC123477797, LOC123477798, LOC123477799, LOC123477800, LOC123477801, LOC123477802, LOC123477803, LOC123477804, LOC123477805, LOC123477806, LOC123477807, LOC123477808, LOC123477809, LOC123477810, LOC123480920, LOC123480921, LOC123480922, LOC123480923, LOC123480924, LOC123480925, LOC123480926, LOC123480927, LOC123480928, LOC123480929, LOC123480930, LOC123480931, LOC123480932, LOC123480933, LOC123480934, LOC123480935, LOC126807115, LOC126807116, LOC126807117, LOC126807118, LOC126807119, LOC126807120, LOC126807121, LOC126807122, LOC126807123, LOC126807124, LOC126807125, LOC126807126, LOC126807127, LOC126807128, LOC126807129, LOC126807130, LOC126807131, LOC126807132, LOC126807133, LOC126807134, LOC126807135, LOC126807136, LOC126807137, LOC126807138, LOC126807139, LOC126807140, LOC126807141, LOC126807142, LOC126807143, LOC126807144, LOC126807145, LOC126807146, LOC126807147, LOC126807148, LOC126807149, LOC126807150, LOC126807151, LOC126807152, LOC126807153, LOC126807154, LOC126807155, LOC126807156, LOC126807157, LOC126807158, LOC126807159, LOC126807160, LOC126807161, LOC129389226, LOC129389227, LOC129389228, LOC129389229, LOC129389230, LOC129389231, LOC129389232, LOC129389233, LOC129389234, LOC129389235, LOC129389236, LOC129389237, LOC129389238, LOC129992847, LOC129992848, LOC129992849, LOC129992850, LOC129992851, LOC129992852, LOC129992853, LOC129992854, LOC129992855, LOC129992856, LOC129992857, LOC129992858, LOC129992859, LOC129992860, LOC129992861, LOC129992862, LOC129992863, LOC129992864, LOC129992865, LOC129992866, LOC129992867, LOC129992868, LOC129992869, LOC129992870, LOC129992871, LOC129992872, LOC129992873, LOC129992874, LOC129992875, LOC129992876, LOC129992877, LOC129992878, LOC129992879, LOC129992880, LOC129992881, LOC129992882, LOC129992883, LOC129992884, LOC129992885, LOC129992886, LOC129992887, LOC129992888, LOC129992889, LOC129992890, LOC129992891, LOC129992892, LOC129992893, LOC129992894, LOC129992895, LOC129992896, LOC129992897, LOC129992898, LOC129992899, LOC129992900, LOC129992901, LOC129992902, LOC129992903, LOC129992904, LOC129992905, LOC129992906, LOC129992907, LOC129992908, LOC129992909, LOC129992910, LOC129992911, LOC129992912, LOC129992913, LOC129992914, LOC129992915, LOC129992916, LOC129992917, LOC129992918, LOC129992919, LOC129992920, LOC129992921, LOC129992922, LOC129992923, LOC129992924, LOC129992925, LOC129992926, LOC129992927, LOC129992928, LOC129992929, LOC129992930, LOC129992931, LOC129992932, LOC129992933, LOC129992934, LOC129992935, LOC129992936, LOC129992937, LOC129992938, LOC129992939, LOC129992940, LOC129992941, LOC129992942, LOC129992943, LOC129992944, LOC129992945, LOC129992946, LOC129992947, LOC129992948, LOC129992949, LOC129992950, LOC129992951, LOC129992952, LOC129992953, LOC129992954, LOC129992955, LOC129992956, LOC129992957, LOC129992958, LOC129992959, LOC129992960, LOC129992961, LOC129992962, LOC129992963, LOC129992964, LOC129992965, LOC129992966, LOC129992967, LOC129992968, LOC129992969, LOC129992970, LOC129992971, LOC129992972, LOC129992973, LOC129992974, LOC129992975, LOC129992976, LOC129992977, LOC129992978, LOC129992979, LOC129992980, LOC129992981, LOC129992982, LOC129992983, LOC129992984, LOC129992985, LOC129992986, LOC129992987, LOC129992988, LOC129992989, LOC129992990, LOC129992991, LOC129992992, LOC129992993, LOC129992994, LOC129992995, LOC129992996, LOC129992997, LOC129992998, LOC129992999, LOC129993000, LOC129993001, LOC129993002, LOC129993003, LOC129993004, LOC129993005, LOC129993006, LOC129993007, LOC129993008, LOC129993009, LOC129993010, LOC129993011, LOC129993012, LOC129993013, LOC129993014, LOC129993015, LOC129993016, LOC129993017, LOC129993018, LOC129993019, LOC129993020, LOC129993021, LOC129993022, LOC129993023, LOC129993024, LOC129993025, LOC129993026, LOC129993027, LOC129993028, LOC129993029, LOC129993030, LOC129993031, LOC129993032, LOC129993033, LOC129993034, LOC129993035, LOC129993036, LOC129993037, LOC129993038, LOC129993039, LOC129993040, LOC129993041, LOC129993042, LOC129993043, LOC129993044, LOC129993045, LOC129993046, LOC129993047, LOC129993048, LOC129993049, LOC129993050, LOC129993051, LOC129993052, LOC129993053, LOC129993054, LOC129993055, LOC129993056, LOC129993057, LOC129993058, LOC129993059, LOC129993060, LOC129993061, LOC129993062, LOC129993063, LOC129993064, LOC129993065, LOC129993066, LOC129993067, LOC129993068, LOC129993069, LOC129993070, LOC129993071, LOC129993072, LOC129993073, LOC129993074, LOC129993075, LOC129993076, LOC129993077, LOC129993078, LOC129993079, LOC129993080, LOC129993081, LOC129993082, LOC129993083, LOC129993084, LOC129993085, LOC129993086, LOC129993087, LOC132088988, LOC132088989, LOC132088990, LOC132088991, LOC132088992, LOC132088993, LOC132088994, LOC132088995, LOC132088996, LOC132088997, LOC132088998, LOC132088999, LOC132089000, LOC132089001, LOC132089002, LOC132089003, LOC132089004, LOC132089005, LOC132089006, LOC132089007, LOC132089008, LOC132089009, LOC132089010, LOC132089011, LOC132089012, LOC132089013, LOC132089014, LOC132089015, LOC132089016, LOC132089017, LOC132089018, LOC132089019, LOC132089020, LOC132089021, LOC132089022, LOC132089023, LOC132089024, LOC132089025, LOC132089026, LOC132089027, LOC132089028, LOC132089029, LOC132089030, LOC132089031, LOC132089032, LOC132089033, LOC132089034, LOC132089035, LOC132089036, LOC132089037, LOC132089038, LOC132089039, LOC132089040, LOC132089041, LOC132090708, LOC132090709, LOC132090710, LOC132090711, LOC132090712, LOC132090713, LOC132090714, LRIT3, MAD2L1, MAD2L1-DT, MANBA, MCUB, METAP1, METTL14, METTL14-DT, MFSD8, MIR1243, MIR1255A, MIR1973, MIR2054, MIR297, MIR302A, MIR302B, MIR302C, MIR302CHG, MIR302D, MIR367, MIR3684, MIR576, MIR577, MIR8066, MIR8082, MTTP, MYOZ2, NDNF, NDNF-AS1, NDST3, NDST4, NEUROG2, NEUROG2-AS1, NFKB1, NPNT, NUDT6, OSTC, PABPC4L, PANCR, PAPSS1, PCDH10, PCDH10-DT, PDE5A, PGRMC2, PITX2, PLA2G12A, PLK4, PP12613, PPA2, PPP3CA, PRDM5, PRSS12, QRFPR, RAP1GDS1, RPL34, RPL34-DT, RRH, SCLT1, SEC24B, SEC24B-AS1, SEC24D, SGMS2, SLC25A31, SLC39A8, SLC9B1, SLC9B2, SMIM43, SNHG27, SNHG8, SNORA101A, SNORA24, SPRY1, STPG2, STPG2-AS1, SYNPO2, TACR3, TACR3-AS1, TBCK, TET2, TET2-AS1, TIFA, TNIP3, TRAM1L1, TRC-GCA2-1, TRMT10A, TRPC3, TSPAN5, TSPAN5-DT, UBE2D3, UBE2D3-AS1, UGT8, USP53, ZGRF1
See casesPathogenic
(Aug 12, 2011)		criteria provided, single submitter
2.
GRCh37:
Chr4:106699504-111128029
GRCh38:
Chr4:105778347-110206873
AIMP1, CASP6, CFI, COL25A1, COL25A1-DT, CYP2U1, CYP2U1-AS1, DKK2, EGF, ELOVL6, ETNPPL, GAR1, GAR1-DT, GIMD1, GSTCD, GSTCD-AS1, HADH, LEF1, LEF1-AS1, LINC02173, LOC101929577, LOC101929621, LOC102725220, LOC110120975, LOC110121138, LOC112935971, LOC112935972, LOC121725181, LOC123477797, LOC123477798, LOC123477799, LOC123477800, LOC123477801, LOC123477802, LOC126807130, LOC126807131, LOC126807132, LOC126807133, LOC126807134, LOC126807135, LOC129992919, LOC129992920, LOC129992921, LOC129992922, LOC129992923, LOC129992924, LOC129992925, LOC129992926, LOC129992927, LOC129992928, LOC129992929, LOC129992930, LOC129992931, LOC129992932, LOC129992933, LOC129992934, LOC129992935, LOC129992936, LOC129992937, LOC129992938, LOC129992939, LOC129992940, LOC129992941, LOC129992942, LOC129992943, LOC129992944, LOC129992945, LOC129992946, LOC129992947, LOC129992948, LOC129992949, LOC129992950, LOC129992951, LOC129992952, LOC129992953, LOC129992954, LOC129992955, LOC129992956, LOC129992957, LOC129992958, LOC129992959, LOC129992960, LOC129992961, LOC129992962, LOC132088989, LOC132088990, LOC132088991, LOC132088992, LOC132088993, LOC132088994, LOC132088995, LOC132088996, LOC132088997, LOC132090709, LRIT3, MCUB, MIR576, NPNT, OSTC, PAPSS1, PLA2G12A, RPL34, RPL34-DT, RRH, SEC24B, SEC24B-AS1, SGMS2, TBCK
See casesPathogenic
(Aug 12, 2011)		criteria provided, single submitter
3.
GRCh37:
Chr4:110661835
GRCh38:
Chr4:109740679
CFInot provided, Atypical hemolytic-uremic syndrome with I factor anomalyBenign
(Nov 10, 2018)		criteria provided, multiple submitters, no conflicts
4.
GRCh37:
Chr4:110661905
GRCh38:
Chr4:109740749
CFIAtypical hemolytic-uremic syndrome with I factor anomalyBenign
(Jan 13, 2018)		criteria provided, single submitter
5.
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
6.
GRCh37:
Chr4:110662042
GRCh38:
Chr4:109740886
CFInot specified, Atypical hemolytic-uremic syndrome with I factor anomalyBenign
(May 14, 2019)		criteria provided, multiple submitters, no conflicts
7.
GRCh37:
Chr4:110662051
GRCh38:
Chr4:109740895
CFInot providedUncertain significance
(Jun 23, 2022)		criteria provided, single submitter
8.
GRCh37:
Chr4:110662062
GRCh38:
Chr4:109740906
CFIQ377R, Q561R, Q573R, Q580R, Q588Rnot providedUncertain significance
(Aug 19, 2022)		criteria provided, single submitter
9.
GRCh37:
Chr4:110662068
GRCh38:
Chr4:109740912
CFII375T, I559T, I571T, I578T, I586Tnot providedUncertain significance
(Sep 30, 2022)		criteria provided, single submitter
10.
GRCh37:
Chr4:110662075
GRCh38:
Chr4:109740919
CFIP373S, P557S, P569S, P576S, P584Snot providedLikely benign
(Jul 31, 2022)		criteria provided, single submitter
11.
GRCh37:
Chr4:110662081-110662082
GRCh38:
Chr4:109740925-109740926
CFIG555fs, G567fs, G371fs, G574fs, G582fsnot providedUncertain significance
(Jun 12, 2022)		criteria provided, single submitter
12.
GRCh37:
Chr4:110662085
GRCh38:
Chr4:109740929
CFInot providedLikely benign
(Jul 23, 2022)		criteria provided, single submitter
13.
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
14.
GRCh37:
Chr4:110662109
GRCh38:
Chr4:109740953
CFIN361K, N545K, N557K, N564K, N572Knot providedUncertain significance
(Oct 13, 2022)		criteria provided, single submitter
15.
GRCh37:
Chr4:110662140
GRCh38:
Chr4:109740984
CFIE554V, E547V, E562V, E351V, E535Vnot provided, Atypical hemolytic-uremic syndromeConflicting interpretations of pathogenicity
(Aug 31, 2021)		criteria provided, conflicting interpretations
16.
GRCh37:
Chr4:110662144
GRCh38:
Chr4:109740988
CFIP553S, P546S, P561S, P350S, P534Snot provided, Atypical hemolytic-uremic syndrome with I factor anomalyBenign/Likely benign
(Nov 1, 2022)		criteria provided, multiple submitters, no conflicts
17.
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
18.
GRCh37:
Chr4:110662150-110662151
GRCh38:
Chr4:109740994-109740995
CFIC347fs, C531fs, C543fs, C550fs, C558fsnot providedLikely pathogenic
(Jul 27, 2020)		criteria provided, single submitter
19.
GRCh37:
Chr4:110662155
GRCh38:
Chr4:109740999
CFIN346fs, N530fs, N542fs, N549fs, N557fsCFI-Related DisordersLikely pathogenic
(Jan 26, 2022)		criteria provided, single submitter
20.
GRCh37:
Chr4:110662159
GRCh38:
Chr4:109741003
CFIE529fs, E541fs, E345fs, E548fs, E556fsnot providedUncertain significance
(Aug 22, 2022)		criteria provided, single submitter
21.
GRCh37:
Chr4:110662159
GRCh38:
Chr4:109741003
CFIE548Q, E541Q, E556Q, E345Q, E529Qnot specified, Atypical hemolytic-uremic syndrome, not provided,
Atypical hemolytic-uremic syndrome with I factor anomaly		Conflicting interpretations of pathogenicity
(Nov 1, 2022)		criteria provided, conflicting interpretations
22.
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
23.
GRCh37:
Chr4:110662164
GRCh38:
Chr4:109741008
CFIW546*, W554*, W539*, W343*, W527*Atypical hemolytic-uremic syndrome with I factor anomalyrisk factor
(Jun 1, 2004)		no assertion criteria provided
24.
GRCh37:
Chr4:110662166
GRCh38:
Chr4:109741010
CFInot providedLikely benign
(Apr 14, 2021)		criteria provided, single submitter
25.
GRCh37:
Chr4:110662179
GRCh38:
Chr4:109741023
CFIW534*, W522*, W338*, W541*, W549*not providedUncertain significance
(May 28, 2022)		criteria provided, single submitter
26.
GRCh37:
Chr4:110662184
GRCh38:
Chr4:109741028
CFInot providedLikely benign
(Sep 7, 2022)		criteria provided, single submitter
27.
GRCh37:
Chr4:110662200
GRCh38:
Chr4:109741044
CFIA534V, A515V, A527V, A331V, A542Vnot providedUncertain significance
(May 7, 2022)		criteria provided, single submitter
28.
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
29.
GRCh37:
Chr4:110662223
GRCh38:
Chr4:109741067
CFInot providedLikely benign
(Jun 13, 2022)		criteria provided, single submitter
30.
GRCh37:
Chr4:110662230
GRCh38:
Chr4:109741074
CFID524V, D517V, D532V, D321V, D505VAtypical hemolytic-uremic syndrome with I factor anomalyrisk factor
(Jun 1, 2004)		no assertion criteria provided
31.
GRCh37:
Chr4:110662231
GRCh38:
Chr4:109741075
CFID321Y, D505Y, D517Y, D524Y, D532Ynot providedUncertain significance
(Jul 23, 2019)		criteria provided, multiple submitters, no conflicts
32.
GRCh37:
Chr4:110662246
GRCh38:
Chr4:109741090
CFID519N, D512N, D527N, D316N, D500Nnot providedUncertain significance
(Jan 15, 2022)		criteria provided, single submitter
33.
GRCh37:
Chr4:110662247
GRCh38:
Chr4:109741091
CFInot providedLikely benign
(Nov 3, 2020)		criteria provided, single submitter
34.
GRCh37:
Chr4:110662253
GRCh38:
Chr4:109741097
CFInot providedLikely benign
(Aug 24, 2022)		criteria provided, single submitter
35.
GRCh37:
Chr4:110662254
GRCh38:
Chr4:109741098
CFIG313V, G497V, G509V, G516V, G524Vnot providedUncertain significance
(Aug 13, 2021)		criteria provided, single submitter
36.
GRCh37:
Chr4:110662259
GRCh38:
Chr4:109741103
CFInot providedLikely benign
(Nov 27, 2021)		criteria provided, single submitter
37.
GRCh37:
Chr4:110663642
GRCh38:
Chr4:109742486
CFInot specified, not provided, Atypical hemolytic-uremic syndrome,
Atypical hemolytic-uremic syndrome with I factor anomaly, Factor I deficiency, Age related macular degeneration 13,
Atypical hemolytic-uremic syndrome with I factor anomaly		Benign/Likely benign
(Jun 1, 2023)		criteria provided, multiple submitters, no conflicts
38.
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
39.
GRCh37:
Chr4:110663649
GRCh38:
Chr4:109742493
CFIA511V, A519V, A504V, A308V, A492VAge related macular degeneration 13, Atypical hemolytic-uremic syndrome with I factor anomaly, Afibrinogenemia,
not provided, Age related macular degeneration 13, Factor I deficiency,
Atypical hemolytic-uremic syndrome with I factor anomaly		Uncertain significance
(Mar 30, 2022)		criteria provided, multiple submitters, no conflicts
40.
GRCh37:
Chr4:110663657
GRCh38:
Chr4:109742501
CFIM305I, M489I, M501I, M508I, M516Inot providedUncertain significance
(Dec 21, 2021)		criteria provided, multiple submitters, no conflicts
41.
GRCh37:
Chr4:110663665
GRCh38:
Chr4:109742509
CFIK506Q, K499Q, K514Q, K303Q, K487QAtypical hemolytic-uremic syndrome with I factor anomalyUncertain significance
(Jan 12, 2018)		criteria provided, single submitter
42.
GRCh37:
Chr4:110663669
GRCh38:
Chr4:109742513
CFInot providedLikely benign
(Apr 30, 2022)		criteria provided, single submitter
43.
GRCh37:
Chr4:110663676
GRCh38:
Chr4:109742520
CFIR502H, R510H, R299H, R483H, R495Hnot providedUncertain significance
(Aug 10, 2022)		criteria provided, single submitter
44.
GRCh37:
Chr4:110663683
GRCh38:
Chr4:109742527
CFIG481R, G493R, G508R, G297R, G500Rnot providedUncertain significance
(Oct 26, 2022)		criteria provided, single submitter
45.
GRCh37:
Chr4:110663689
GRCh38:
Chr4:109742533
CFIF295L, F479L, F491L, F498L, F506Lnot providedUncertain significance
(Mar 3, 2022)		criteria provided, single submitter
46.
GRCh37:
Chr4:110663690
GRCh38:
Chr4:109742534
CFIK490N, K505N, K497N, K478N, K294Nnot providedUncertain significance
(Sep 30, 2022)		criteria provided, single submitter
47.
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
48.
GRCh37:
Chr4:110663705
GRCh38:
Chr4:109742549
CFII289M, I500M, I473M, I485M, I492Mnot providedUncertain significance
(Sep 21, 2022)		criteria provided, single submitter
49.
GRCh37:
Chr4:110663707
GRCh38:
Chr4:109742551
CFII473L, I289L, I492L, I500L, I485Lnot providedUncertain significance
(Sep 26, 2022)		criteria provided, single submitter
50.
GRCh37:
Chr4:110663711
GRCh38:
Chr4:109742555
CFIK483N, K490N, K287N, K471N, K498Nnot providedUncertain significance
(Aug 27, 2021)		criteria provided, single submitter
51.
GRCh37:
Chr4:110663716
GRCh38:
Chr4:109742560
CFIV286I, V497I, V470I, V482I, V489Inot providedUncertain significance
(Jul 26, 2022)		criteria provided, single submitter
52.
GRCh37:
Chr4:110663717
GRCh38:
Chr4:109742561
CFInot providedLikely benign
(Jun 20, 2022)		criteria provided, single submitter
53.
GRCh37:
Chr4:110663720
GRCh38:
Chr4:109742564
CFInot providedLikely benign
(Jun 13, 2022)		criteria provided, single submitter
54.
GRCh37:
Chr4:110663723
GRCh38:
Chr4:109742567
CFIW486*, W494*, W283*, W479*, W467*CFI-related conditionLikely pathogenic
(Aug 4, 2023)		criteria provided, single submitter
55.
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
56.
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
57.
GRCh37:
Chr4:110663740-110663741
GRCh38:
Chr4:109742584-109742585
CFIR473fs, R480fs, R488fs, R461fs, R277fsnot providedPathogenic
(Oct 17, 2022)		criteria provided, single submitter
58.
GRCh37:
Chr4:110663746
GRCh38:
Chr4:109742590
CFIE472K, E487K, E276K, E460K, E479Knot providedUncertain significance
(Aug 20, 2022)		criteria provided, single submitter
59.
GRCh37:
Chr4:110663747
GRCh38:
Chr4:109742591
CFInot providedLikely benign
(Aug 7, 2022)		criteria provided, single submitter
60.
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
61.
GRCh37:
Chr4:110663864
GRCh38:
Chr4:109742708
CFInot providedBenign
(Nov 11, 2018)		criteria provided, single submitter
62.
GRCh37:
Chr4:110663997
GRCh38:
Chr4:109742841
CFInot providedBenign
(Jun 18, 2021)		criteria provided, single submitter
63.
GRCh37:
Chr4:110667345
GRCh38:
Chr4:109746189
CFInot providedBenign
(Nov 10, 2018)		criteria provided, single submitter
64.
GRCh37:
Chr4:110667362
GRCh38:
Chr4:109746206
CFInot providedLikely benign
(May 8, 2022)		criteria provided, single submitter
65.
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
66.
GRCh37:
Chr4:110667371
GRCh38:
Chr4:109746215
CFInot providedLikely benign
(Oct 13, 2022)		criteria provided, single submitter
67.
GRCh37:
Chr4:110667373
GRCh38:
Chr4:109746217
CFIAtypical hemolytic-uremic syndrome with I factor anomalyUncertain significance
(Jan 12, 2018)		criteria provided, single submitter
68.
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
69.
GRCh37:
Chr4:110667378
GRCh38:
Chr4:109746222
CFID477H, D485H, D470H, D274H, D458Hnot provided, Atypical hemolytic-uremic syndrome with I factor anomalyUncertain significance
(Sep 24, 2021)		criteria provided, multiple submitters, no conflicts
70.
GRCh37:
Chr4:110667386
GRCh38:
Chr4:109746230
CFIR467Q, R474Q, R271Q, R455Q, R482Qnot providedUncertain significance
(Oct 5, 2022)		criteria provided, single submitter
71.
GRCh37:
Chr4:110667387
GRCh38:
Chr4:109746231
CFIR474*, R467*, R482*, R271*, R455*CFI-related condition, not providedPathogenic/Likely pathogenic
(Dec 5, 2022)		criteria provided, multiple submitters, no conflicts
72.
GRCh37:
Chr4:110667392
GRCh38:
Chr4:109746236
CFIW269*, W472*, W453*, W465*, W480*not providedPathogenic
(Jun 9, 2022)		criteria provided, single submitter
73.
GRCh37:
Chr4:110667397
GRCh38:
Chr4:109746241
CFInot provided, Atypical hemolytic-uremic syndrome with I factor anomalyBenign
(Oct 3, 2022)		criteria provided, multiple submitters, no conflicts
74.
GRCh37:
Chr4:110667402
GRCh38:
Chr4:109746246
CFIV469I, V477I, V266I, V462I, V450Inot providedUncertain significance
(Oct 20, 2022)		criteria provided, single submitter
75.
GRCh37:
Chr4:110667405
GRCh38:
Chr4:109746249
CFII449V, I476V, I265V, I468V, I461Vnot providedUncertain significance
(Jul 26, 2022)		criteria provided, single submitter
76.
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
77.
GRCh37:
Chr4:110667410
GRCh38:
Chr4:109746254
CFIT263R, T447R, T459R, T466R, T474Rnot providedUncertain significance
(Aug 5, 2022)		criteria provided, single submitter
78.
GRCh37:
Chr4:110667415
GRCh38:
Chr4:109746259
CFIN261K, N445K, N464K, N472K, N457Knot providedUncertain significance
(Mar 14, 2022)		criteria provided, single submitter
79.
GRCh37:
Chr4:110667415
GRCh38:
Chr4:109746259
CFInot providedLikely benign
(Jun 20, 2022)		criteria provided, single submitter
80.
GRCh37:
Chr4:110667415
GRCh38:
Chr4:109746259
CFIN261K, N445K, N457K, N464K, N472Knot providedUncertain significance
(Sep 2, 2022)		criteria provided, single submitter
81.
GRCh37:
Chr4:110667421
GRCh38:
Chr4:109746265
CFInot providedLikely benign
(Dec 18, 2020)		criteria provided, single submitter
82.
GRCh37:
Chr4:110667421
GRCh38:
Chr4:109746265
CFIQ259H, Q443H, Q455H, Q462H, Q470Hnot providedLikely benign
(Sep 19, 2022)		criteria provided, single submitter
83.
GRCh37:
Chr4:110667426
GRCh38:
Chr4:109746270
CFIF461L, F454L, F469L, F258L, F442LAtypical hemolytic-uremic syndrome with I factor anomalyUncertain significance
(Jan 12, 2018)		criteria provided, single submitter
84.
GRCh37:
Chr4:110667427
GRCh38:
Chr4:109746271
CFInot providedLikely benign
(Nov 26, 2021)		criteria provided, single submitter
85.
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
86.
GRCh37:
Chr4:110667430
GRCh38:
Chr4:109746274
CFInot providedLikely benign
(Aug 10, 2022)		criteria provided, single submitter
87.
GRCh37:
Chr4:110667431
GRCh38:
Chr4:109746275
CFIY440S, Y256S, Y452S, Y459S, Y467Snot providedUncertain significance
(Sep 24, 2022)		criteria provided, single submitter
88.
GRCh37:
Chr4:110667432
GRCh38:
Chr4:109746276
CFIY256H, Y440H, Y452H, Y459H, Y467Hnot providedUncertain significance
(Aug 19, 2022)		criteria provided, single submitter
89.
GRCh37:
Chr4:110667451
GRCh38:
Chr4:109746295
CFInot providedLikely benign
(Oct 13, 2022)		criteria provided, single submitter
90.
GRCh37:
Chr4:110667452
GRCh38:
Chr4:109746296
CFIA249D, A433D, A445D, A460D, A452DAtypical hemolytic-uremic syndrome with I factor anomalyUncertain significance
(Apr 26, 2019)		no assertion criteria provided
91.
GRCh37:
Chr4:110667453
GRCh38:
Chr4:109746297
CFIA445S, A433S, A460S, A249S, A452Snot providedUncertain significance
(Jan 4, 2022)		criteria provided, single submitter
92.
GRCh37:
Chr4:110667453
GRCh38:
Chr4:109746297
CFIA433T, A452T, A249T, A445T, A460Tnot providedUncertain significance
(Jun 22, 2022)		criteria provided, single submitter
93.
GRCh37:
Chr4:110667460
GRCh38:
Chr4:109746304
CFInot providedLikely benign
(Sep 19, 2022)		criteria provided, single submitter
94.
GRCh37:
Chr4:110667464
GRCh38:
Chr4:109746308
CFIR245H, R429H, R441H, R448H, R456Hnot providedLikely benign
(Jul 11, 2022)		criteria provided, single submitter
95.
GRCh37:
Chr4:110667472
GRCh38:
Chr4:109746316
CFIE242D, E438D, E453D, E426D, E445DInborn genetic diseasesUncertain significance
(Nov 1, 2022)		criteria provided, single submitter
96.
GRCh37:
Chr4:110667474
GRCh38:
Chr4:109746318
CFIE242K, E426K, E438K, E445K, E453Knot providedUncertain significance
(Sep 26, 2022)		criteria provided, single submitter
97.
GRCh37:
Chr4:110667485
GRCh38:
Chr4:109746329
CFIK441R, K434R, K449R, K238R, K422RThrombotic microangiopathy, not specified, Atypical hemolytic-uremic syndrome,
Inborn genetic diseases, Atypical hemolytic-uremic syndrome with I factor anomaly, Atypical hemolytic-uremic syndrome with I factor anomaly,
Age related macular degeneration 13, Factor I deficiency, not provided
Conflicting interpretations of pathogenicity
(Jan 1, 2023)		criteria provided, conflicting interpretations
98.
GRCh37:
Chr4:110667492
GRCh38:
Chr4:109746336
CFIG236R, G420R, G432R, G439R, G447Rnot providedBenign
(Jan 9, 2021)		criteria provided, single submitter
99.
GRCh37:
Chr4:110667493
GRCh38:
Chr4:109746337
CFInot providedLikely benign
(Jan 22, 2022)		criteria provided, single submitter
100.
GRCh37:
Chr4:110667499
GRCh38:
Chr4:109746343
CFInot providedLikely benign
(Feb 28, 2022)		criteria provided, single submitter
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