S I D E B A R
Format
Items per page
Sort by

Download:

Choose Destination

Search results

Items: 1 to 100 of 110

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review statusAccession
1.
GRCh37:
Chr19:259395-6795622
GRCh38:
Chr19:259395-6795611
TMIGD2, TNFAIP8L1, ZNF57, JSRP1, MOB3A, MFSD12, GIPC3, NDUFA11, MISP, PLK5, C2CD4C, TICAM1, CIRBP-AS1, ZNRF4, C19orf25, ATP8B3, DIRAS1, ZNF555, PRR22, ANKRD24, CBARP, CSNK1G2-AS1, TINCR, CATSPERD, SMIM24, MIR7-3HG, SLC25A41, ODF3L2, ADAMTSL5, TMPRSS9, NDUFS7, PEAK3, HSD11B1L, ONECUT3, LOC390877, MEX3D, PRSS57, VMAC, CACTIN-AS1, MIR7-3, PLIN5, LINGO3, ARRDC5, MIR637, PLIN4, LOC100128568, C19orf71, DPP9-AS1, TRN-GTT2-6, TRF-GAA1-6, TRV-CAC3-1, LOC100288123, MIR1909, MIR1227, MIR3187, MIR4321, MIR3940, MIR4747, MIR4746, MIR4745, LOC100996351, LINC01775, LOC101928844, RNU6-9, MIR6790, MIR6791, MIR6885, MIR7850, MIR6789, MIR7108, RNU6-2, LOC106804547, LOC108254692, LOC108281123, LOC108348031, LOC108783649, LOC110006317, LOC110006318, LOC111413035, LOC111556134, LOC111721712, LOC111828491, LOC111828492, LOC111828495, LOC112543439, LOC112543440, LOC112543441, LOC112543443, LOC112543475, LOC112543476, LOC112543477, LOC112543480, LOC112543481, LOC112543482, LOC112543490, LOC112552148, LOC112552174, LOC112552175, LOC112552176, LOC113939966, LOC113939970, LOC113939971, LOC113939974, TLE5, AMH, ATP5F1D, AZU1, HCN2, BSG, C3, CAPS, CD70, CDC34, CIRBP, CNN2, CSNK1G2, DAPK3, CFD, ARID3A, EEF2, EFNA2, ELANE, FUT3, FUT5, FUT6, GAMT, GNA11, GNA15, GNG7, MKNK2, GPX4, GTF2F1, GZMM, MATK, MLLT1, GADD45B, NFIC, NRTN, OAZ1, PALM, POLR2E, POLRMT, MAP2K2, PSPN, PRTN3, PTBP1, PTPRS, RFX2, RPS15, SAFB, SGTA, SH3GL1, STK11, TBXA2R, TCF3, THOP1, TLE2, TRG-TCC1-1, VAV1, MADCAM1, SF3A2, CLPP, RANBP3, KHSRP, PLPP2, S1PR4, TNFSF14, TNFSF9, AP3D1, TRIP10, LONP1, APBA3, SAFB2, MED16, CHAF1A, SH2D3A, EBI3, PLIN3, FSTL3, APC2, ABCA7, HMG20B, TUBB4A, SEMA6B, UQCR11, SBNO2, KDM4B, ZFR2, PIP5K1C, ARHGAP45, SHC2, RPL36, TIMM13, DAZAP1, SNORD37, FGF22, TJP3, NMRK2, UHRF1, SLC39A3, THEG, ZBTB7A, FZR1, SIRT6, PIAS4, LSM7, MBD3, MIER2, PCSK4, FAM174C, PLEKHJ1, FEM1A, STAP2, BTBD2, RNF126, YJU2, MYDGF, NCLN, GPR108, SPPL2B, DUS3L, SHD, WDR18, REXO1, ZNF77, CACTIN, CELF5, SLC25A23, FSD1, TLE6, PLPPR3, DENND1C, ZNF556, UBXN6, ACSBG2, ABHD17A, DOHH, KLF16, ALKBH7, DOT1L, KISS1R, CREB3L3, HDGFL2, LMNB2, RAX2, PWWP3A, MPND, ATCAY, MIDN, DPP9, R3HDM4, TMEM259, TPGS1, CRB3, REEP6, IZUMO4, SCAMP4, ADAT3, ZNF554, GRIN3B, MRPL54, LRG1, ACER1, MICOS13
See casesPathogenic
(Feb 11, 2011)
no assertion criteria providedVCV000154560
2.
GRCh37:
Chr19:1972244-9759555
GRCh38:
Chr19:1972245-9648879
TLE5, AMH, C3, CAPS, CD70, CSNK1G2, DAPK3, EEF2, ELAVL1, ADGRE1, FCER2, FUT3, FUT5, FUT6, GNA11, GNA15, GNG7, MKNK2, GTF2F1, INSR, MATK, MLLT1, MYO1F, GADD45B, HNRNPM, NDUFA7, NFIC, NRTN, OAZ1, MAP2K2, MAP2K7, PSPN, PTPRS, RFX2, RPS28, SAFB, CCL25, SGTA, SH3GL1, SNAPC2, STXBP2, TBXA2R, THOP1, TLE2, TRG-TCC1-1, VAV1, ZNF121, ZNF177, SF3A2, CLPP, RANBP3, KHSRP, S1PR4, TNFSF14, TNFSF9, AP3D1, RAB11B, TRIP10, LONP1, APBA3, SAFB2, CHAF1A, SH2D3A, EBI3, PLIN3, CLEC4M, HMG20B, TUBB4A, TIMM44, SEMA6B, ZNF266, PNPLA6, KDM4B, ZFR2, ARHGEF18, PIP5K1C, RPL36, TIMM13, OR7E24, SNORD37, TJP3, NMRK2, UHRF1, SLC39A3, CD209, ANGPTL4, MARCHF2, CD320, ZBTB7A, FZR1, SIRT6, PIAS4, LSM7, ZNF562, PLEKHJ1, FEM1A, STAP2, BTBD2, YJU2, MYDGF, RETN, NCLN, GPR108, SPPL2B, DUS3L, XAB2, SHD, MCOLN1, CAMSAP3, ZNF317, ZNF77, CACTIN, CELF5, SLC25A23, ZNF426, FSD1, ZNF557, CERS4, TLE6, DENND1C, ZNF556, LRRC8E, PRR36, UBXN6, ACSBG2, ADAMTS10, DOHH, PRAM1, ALKBH7, ZNF414, DOT1L, FBN3, ZNF559, CREB3L3, HDGFL2, LMNB2, RAX2, MPND, ATCAY, MBD3L1, DPP9, CRB3, PEX11G, ZNF561, MUC16, IZUMO4, ZNF554, EVI5L, MRPL54, LRG1, OR7D4, OR7G1, OR1M1, ACER1, MICOS13, MBD3L2, TRAPPC5, PCP2, TMIGD2, TNFAIP8L1, ZNF57, JSRP1, MOB3A, MFSD12, GIPC3, NDUFA11, ZNF358, ZNF560, TICAM1, ZNRF4, ZNF558, DIRAS1, ZNF555, OR7D2, PRR22, ANKRD24, MCEMP1, KANK3, TINCR, CATSPERD, ACTL9, OR2Z1, ZNF561-AS1, SMIM24, MIR7-3HG, SLC25A41, MBD3L5, CLEC4G, TMPRSS9, PEAK3, HSD11B1L, TEX45, ZNF699, LOC390877, OR7G2, OR7G3, VMAC, CTXN1, CACTIN-AS1, MIR7-3, PLIN5, LINGO3, ARRDC5, MBD3L4, MBD3L3, MIR637, PLIN4, MBD3L2B, LOC100128568, C19orf71, LOC100128573, DPP9-AS1, PET100, TRV-CAC3-1, MIR1227, MIR4321, MIR3940, RAB11B-AS1, TGFBR3L, ZNF559-ZNF177, MIR4747, MIR4746, MIR4999, LOC100996351, ZNF426-DT, LINC01775, LOC101928844, MIR6790, MIR6791, MIR6792, MIR6885, MIR7850, MIR6789, MIR7108, LOC106804547, LOC108348031, LOC108783649, LOC111413022, LOC111556134, LOC111721712, LOC111828491, LOC111828492, LOC111828495, LOC112543475, LOC112543476, LOC112543477, LOC112543480, LOC112543481, LOC112543482, LOC112543490, LOC112552148, LOC112552174, LOC112552175, LOC112552176, LOC112577455, LOC112577456, LOC112577457, LOC112577458, LOC113939970, LOC113939971, LOC113939974, LOC113939976
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitterVCV000059082
3.
GRCh37:
Chr19:5905186-6916298
GRCh38:
Chr19:5905175-6916287
See casesUncertain significance
(Oct 24, 2012)
no assertion criteria providedVCV000150491
4.
GRCh37:
Chr19:6677944
GRCh38:
Chr19:6677933
C3Macular degeneration, Atypical hemolytic uremic syndrome, C3 deficiency
Uncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000330269
5.
GRCh37:
Chr19:6677989
GRCh38:
Chr19:6677978
C3Macular degeneration, Atypical hemolytic uremic syndrome, C3 deficiency
Benign
(Jun 14, 2016)
criteria provided, single submitterVCV000330270
6.
GRCh37:
Chr19:6678030
GRCh38:
Chr19:6678019
C3S1619RMacular degeneration, Atypical hemolytic uremic syndrome, C3 deficiency
Likely benign
(Jun 14, 2016)
criteria provided, single submitterVCV000330271
7.
GRCh37:
Chr19:6678151
GRCh38:
Chr19:6678140
C3Atypical hemolytic uremic syndrome, Macular degeneration, C3 deficiency
Uncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000330272
8.
GRCh37:
Chr19:6678186
GRCh38:
Chr19:6678175
C3Atypical hemolytic uremic syndrome, Macular degeneration, C3 deficiency
Uncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000330273
9.
GRCh37:
Chr19:6678210
GRCh38:
Chr19:6678199
C3Atypical hemolytic uremic syndrome, Macular degeneration, C3 deficiency
Uncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000330274
10.
GRCh37:
Chr19:6678246
GRCh38:
Chr19:6678235
C3Atypical hemolytic uremic syndrome, Macular degeneration, C3 deficiency
Likely benign
(Jun 14, 2016)
criteria provided, single submitterVCV000330275
11.
GRCh37:
Chr19:6678254
GRCh38:
Chr19:6678243
C3P1587SAtypical hemolytic uremic syndrome, Macular degeneration, C3 deficiency
Uncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000330276
12.
GRCh37:
Chr19:6678452
GRCh38:
Chr19:6678441
C3L1549MAtypical hemolytic uremic syndrome, Macular degeneration, C3 deficiency
Likely benign
(Jun 14, 2016)
criteria provided, single submitterVCV000330277
13.
GRCh37:
Chr19:6678462
GRCh38:
Chr19:6678451
C3Atypical hemolytic uremic syndrome, Macular degeneration, C3 deficiency
Likely benign
(Jun 14, 2016)
criteria provided, single submitterVCV000330278
14.
GRCh37:
Chr19:6678468
GRCh38:
Chr19:6678457
C3C3 deficiencyPathogenic
(Apr 29, 2005)
no assertion criteria providedVCV000017064
15.
GRCh37:
Chr19:6678474
GRCh38:
Chr19:6678463
C3Atypical hemolytic uremic syndrome, Macular degeneration, C3 deficiency
Benign
(Jun 14, 2016)
criteria provided, single submitterVCV000330279
16.
GRCh37:
Chr19:6678475
GRCh38:
Chr19:6678464
C3Atypical hemolytic uremic syndrome, Macular degeneration, C3 deficiency
Likely benign
(Jun 14, 2016)
criteria provided, single submitterVCV000330280
17.
GRCh37:
Chr19:6679429
GRCh38:
Chr19:6679418
C3R1512HAtypical hemolytic uremic syndrome, Macular degeneration, C3 deficiency
Uncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000330281
18.
GRCh37:
Chr19:6679511
GRCh38:
Chr19:6679500
C3Atypical hemolytic uremic syndrome, Macular degeneration, C3 deficiency
Benign
(Jun 14, 2016)
criteria provided, single submitterVCV000330282
19.
GRCh37:
Chr19:6679512
GRCh38:
Chr19:6679501
C3Atypical hemolytic uremic syndrome, Macular degeneration, C3 deficiency
Likely benign
(Jun 14, 2016)
criteria provided, single submitterVCV000330283
20.
GRCh37:
Chr19:6681983
GRCh38:
Chr19:6681972
C3D1440AAtypical hemolytic uremic syndrome, Macular degeneration, C3 deficiency
Uncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000330284
21.
GRCh37:
Chr19:6681991
GRCh38:
Chr19:6681980
C3Atypical hemolytic uremic syndrome, Macular degeneration, C3 deficiency
Benign
(Jun 14, 2016)
criteria provided, single submitterVCV000330285
22.
GRCh37:
Chr19:6684423
GRCh38:
Chr19:6684412
C3T1383Nnot providedUncertain significance
(Sep 16, 2018)
no assertion criteria providedVCV000633670
23.
GRCh37:
Chr19:6684563
GRCh38:
Chr19:6684552
C3Atypical hemolytic uremic syndrome, Macular degeneration, C3 deficiency
Uncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000330286
24.
GRCh37:
Chr19:6684591
GRCh38:
Chr19:6684580
C3I1367Tnot providedUncertain significance
(Jan 29, 2019)
criteria provided, single submitterVCV000636934
25.
GRCh37:
Chr19:6684596
GRCh38:
Chr19:6684585
C3Atypical hemolytic uremic syndrome, Macular degeneration, C3 deficiency
Uncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000330287
26.
GRCh37:
Chr19:6684665
GRCh38:
Chr19:6684654
C3Atypical hemolytic uremic syndrome, Macular degeneration, C3 deficiency
Likely benign
(Jun 14, 2016)
criteria provided, single submitterVCV000330288
27.
GRCh37:
Chr19:6684822
GRCh38:
Chr19:6684811
C3Atypical hemolytic uremic syndrome, Macular degeneration, C3 deficiency
Likely benign
(Jun 14, 2016)
criteria provided, single submitterVCV000330289
28.
GRCh37:
Chr19:6685060
GRCh38:
Chr19:6685049
C3R1303HAtypical hemolytic-uremic syndrome 5Likely pathogenic
(Sep 18, 2017)
no assertion criteria providedVCV000522408
29.
GRCh37:
Chr19:6685109
GRCh38:
Chr19:6685098
C3P1287Snot providedUncertain significance
(May 8, 2017)
criteria provided, single submitterVCV000429614
30.
GRCh37:
Chr19:6685230
GRCh38:
Chr19:6685219
C3not providednot providedno assertion providedVCV000162178
31.
GRCh37:
Chr19:6686192
GRCh38:
Chr19:6686181
C3Macular degeneration, Atypical hemolytic uremic syndrome, C3 deficiency
Benign
(Jun 14, 2016)
criteria provided, single submitterVCV000330290
32.
GRCh37:
Chr19:6686258
GRCh38:
Chr19:6686247
C3Macular degeneration, Atypical hemolytic uremic syndrome, C3 deficiency
Uncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000330291
33.
GRCh37:
Chr19:6686274
GRCh38:
Chr19:6686263
C3G1224Dnot provided, Macular degeneration, Atypical hemolytic uremic syndrome,
C3 deficiency
Conflicting interpretations of pathogenicity
(Jan 29, 2019)
criteria provided, conflicting interpretationsVCV000330292
34.
GRCh37:
Chr19:6686810
GRCh38:
Chr19:6686799
C3Q1198Rnot providedUncertain significance
(Oct 16, 2017)
criteria provided, single submitterVCV000636510
35.
GRCh37:
Chr19:6692982
GRCh38:
Chr19:6692971
C3D1093N, D1115NAtypical hemolytic-uremic syndrome 5risk factor
(Dec 15, 2008)
no assertion criteria providedVCV000017062
36.
GRCh37:
Chr19:6693026
GRCh38:
Chr19:6693015
C3L1100PMacular degeneration, Atypical hemolytic uremic syndrome, C3 deficiency
Uncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000330293
37.
GRCh37:
Chr19:6693044
GRCh38:
Chr19:6693033
C3A1072V, A1094VAtypical hemolytic-uremic syndrome 5risk factor
(Dec 15, 2008)
no assertion criteria providedVCV000017061
38.
GRCh37:
Chr19:6693437
GRCh38:
Chr19:6693426
C3Atypical hemolytic uremic syndrome, Macular degeneration, C3 deficiency
Likely benign
(Jun 14, 2016)
criteria provided, single submitterVCV000330294
39.
GRCh37:
Chr19:6694652-6694654
GRCh38:
Chr19:6694638-6694640
C3Complement component 3 deficiency, autosomal recessive, Atypical hemolytic-uremic syndrome 5, Age-related macular degeneration 9
Uncertain significance
(Nov 9, 2018)
criteria provided, single submitterVCV000625901
40.
GRCh37:
Chr19:6695992-6696842
GRCh38:
Chr19:6695981-6696831
C3C3 deficiencyPathogenic
(Jun 1, 1992)
no assertion criteria providedVCV000017059
41.
GRCh37:
Chr19:6696433
GRCh38:
Chr19:6696422
C3Atypical hemolytic uremic syndrome, Macular degeneration, C3 deficiency
Uncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000330295
42.
GRCh37:
Chr19:6696439
GRCh38:
Chr19:6696428
C3Macular degeneration, Atypical hemolytic uremic syndrome, C3 deficiency
Likely benign
(Jun 14, 2016)
criteria provided, single submitterVCV000330296
43.
GRCh37:
Chr19:6696597
GRCh38:
Chr19:6696586
C3Macular degeneration, Atypical hemolytic uremic syndrome, C3 deficiency
Benign
(Jun 14, 2016)
criteria provided, single submitterVCV000330297
44.
GRCh37:
Chr19:6696606
GRCh38:
Chr19:6696595
C3R954Hnot providedUncertain significance
(Sep 30, 2016)
criteria provided, single submitterVCV000389714
45.
GRCh37:
Chr19:6696610
GRCh38:
Chr19:6696599
C3G953SMacular degeneration, Atypical hemolytic uremic syndrome, C3 deficiency
Uncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000330298
46.
GRCh37:
Chr19:6696668
GRCh38:
Chr19:6696657
C3Macular degeneration, Atypical hemolytic uremic syndrome, C3 deficiency
Likely benign
(Jun 14, 2016)
criteria provided, single submitterVCV000330299
47.
GRCh37:
Chr19:6697406
GRCh38:
Chr19:6697395
C3Atypical hemolytic uremic syndrome, C3 deficiency, Macular degeneration
Benign
(Jun 14, 2016)
criteria provided, single submitterVCV000330300
48.
GRCh37:
Chr19:6697436
GRCh38:
Chr19:6697425
C3Atypical hemolytic uremic syndrome, C3 deficiency, Macular degeneration
Benign
(Jun 14, 2016)
criteria provided, single submitterVCV000330301
49.
GRCh37:
Chr19:6697451
GRCh38:
Chr19:6697440
C3I900MAtypical hemolytic uremic syndrome, C3 deficiency, Macular degeneration
Uncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000330302
50.
GRCh37:
Chr19:6697684
GRCh38:
Chr19:6697673
C3Y832*, Y854*Atypical hemolytic-uremic syndrome 5risk factor
(Dec 15, 2008)
no assertion criteria providedVCV000017063
51.
GRCh37:
Chr19:6697796
GRCh38:
Chr19:6697785
C3V817EAtypical hemolytic uremic syndrome, C3 deficiency, Macular degeneration
Uncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000330303
52.
GRCh37:
Chr19:6702148
GRCh38:
Chr19:6702137
C3Macular degeneration, Atypical hemolytic uremic syndrome, C3 deficiency
Benign
(Jun 14, 2016)
criteria provided, single submitterVCV000330304
53.
GRCh37:
Chr19:6702157
GRCh38:
Chr19:6702146
C3Macular degeneration, Atypical hemolytic uremic syndrome, C3 deficiency
Benign
(Jun 14, 2016)
criteria provided, single submitterVCV000330305
54.
GRCh37:
Chr19:6702175
GRCh38:
Chr19:6702164
C3Atypical hemolytic uremic syndrome, C3 deficiency, Macular degeneration
Uncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000330306
55.
GRCh37:
Chr19:6702184
GRCh38:
Chr19:6702173
C3Atypical hemolytic uremic syndrome, C3 deficiency, Macular degeneration
Likely benign
(Jun 14, 2016)
criteria provided, single submitterVCV000330307
56.
GRCh37:
Chr19:6702598-6702599
GRCh38:
Chr19:6702587-6702588
C3not specifiedUncertain significance
(Oct 24, 2016)
criteria provided, single submitterVCV000422634
57.
GRCh37:
Chr19:6702598
GRCh38:
Chr19:6702587
C3Atypical hemolytic uremic syndrome, C3 deficiency, Macular degeneration
Benign
(Jun 14, 2016)
criteria provided, single submitterVCV000330308
58.
GRCh37:
Chr19:6707072
GRCh38:
Chr19:6707061
C3Macular degeneration, Atypical hemolytic uremic syndrome, C3 deficiency
Likely benign
(Jun 14, 2016)
criteria provided, single submitterVCV000330309
59.
GRCh37:
Chr19:6707129
GRCh38:
Chr19:6707118
C3R735WMacular degeneration, Atypical hemolytic uremic syndrome, C3 deficiency
Likely benign
(Jun 14, 2016)
criteria provided, single submitterVCV000330310
60.
GRCh37:
Chr19:6707148
GRCh38:
Chr19:6707137
C3Macular degeneration, Atypical hemolytic uremic syndrome, C3 deficiency
Likely benign
(Jun 14, 2016)
criteria provided, single submitterVCV000330311
61.
GRCh37:
Chr19:6707228
GRCh38:
Chr19:6707217
C3P702Snot providedUncertain significance
(Sep 30, 2016)
criteria provided, single submitterVCV000389715
62.
GRCh37:
Chr19:6707265
GRCh38:
Chr19:6707254
C3Macular degeneration, Atypical hemolytic uremic syndrome, C3 deficiency
Likely benign
(Jun 14, 2016)
criteria provided, single submitterVCV000330312
63.
GRCh37:
Chr19:6707297-6707298
GRCh38:
Chr19:6707286-6707287
C3Atypical hemolytic uremic syndrome, Macular degeneration, C3 deficiency
Benign
(Jun 14, 2016)
criteria provided, single submitterVCV000330313
64.
GRCh37:
Chr19:6707865
GRCh38:
Chr19:6707854
C3D641NCongenital hemolytic anemiaUncertain significance
(Feb 27, 2018)
criteria provided, single submitterVCV000544828
65.
GRCh37:
Chr19:6707888
GRCh38:
Chr19:6707877
C3K633Rnot provided, Macular degeneration, Atypical hemolytic uremic syndrome,
C3 deficiency
Conflicting interpretations of pathogenicity
(Feb 19, 2017)
criteria provided, conflicting interpretationsVCV000330314
66.
GRCh37:
Chr19:6707913
GRCh38:
Chr19:6707902
C3I625FAtypical hemolytic uremic syndrome, Macular degeneration, C3 deficiency
Likely benign
(Jun 14, 2016)
criteria provided, single submitterVCV000330315
67.
GRCh37:
Chr19:6707931
GRCh38:
Chr19:6707920
C3V619MAtypical hemolytic uremic syndrome, Macular degeneration, C3 deficiency
Likely benign
(Jun 14, 2016)
criteria provided, single submitterVCV000330316
68.
GRCh37:
Chr19:6709704
GRCh38:
Chr19:6709693
C3Atypical hemolytic uremic syndrome, Macular degeneration, C3 deficiency
Benign
(Jun 14, 2016)
criteria provided, single submitterVCV000330317
69.
GRCh37:
Chr19:6709711
GRCh38:
Chr19:6709700
C3K610Tnot providedUncertain significance
(Jul 20, 2018)
criteria provided, single submitterVCV000388125
70.
GRCh37:
Chr19:6709721
GRCh38:
Chr19:6709710
C3K607EMacular degeneration, Atypical hemolytic uremic syndrome, C3 deficiency
Uncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000330318
71.
GRCh37:
Chr19:6709765
GRCh38:
Chr19:6709754
C3R570Q, R592QAtypical hemolytic-uremic syndrome 5risk factor
(Dec 15, 2008)
no assertion criteria providedVCV000017060
72.
GRCh37:
Chr19:6709773
GRCh38:
Chr19:6709762
C3Macular degeneration, Atypical hemolytic uremic syndrome, C3 deficiency
Uncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000330319
73.
GRCh37:
Chr19:6709782
GRCh38:
Chr19:6709771
C3Atypical hemolytic uremic syndrome, Macular degeneration, C3 deficiency
Uncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000330320
74.
GRCh37:
Chr19:6709848
GRCh38:
Chr19:6709837
C3Atypical hemolytic uremic syndrome, Macular degeneration, C3 deficiency
Benign
(Jun 14, 2016)
criteria provided, single submitterVCV000330321
75.
GRCh37:
Chr19:6710683
GRCh38:
Chr19:6710672
C3Atypical hemolytic uremic syndrome, Macular degeneration, C3 deficiency
Likely benign
(Jun 14, 2016)
criteria provided, single submitterVCV000330322
76.
GRCh37:
Chr19:6710713
GRCh38:
Chr19:6710702
C3Atypical hemolytic uremic syndrome, Macular degeneration, C3 deficiency
Likely benign
(Jun 14, 2016)
criteria provided, single submitterVCV000330323
77.
GRCh37:
Chr19:6710782
GRCh38:
Chr19:6710771
C3Atypical hemolytic uremic syndrome, C3 deficiency, Macular degeneration
Benign
(Jun 14, 2016)
criteria provided, single submitterVCV000330324
78.
GRCh37:
Chr19:6711044
GRCh38:
Chr19:6711033
C3R478Lnot providedUncertain significance
(Sep 16, 2018)
no assertion criteria providedVCV000633671
79.
GRCh37:
Chr19:6711070
GRCh38:
Chr19:6711059
C3E469DAtypical hemolytic uremic syndrome, C3 deficiency, Macular degeneration
Likely benign
(Jun 14, 2016)
criteria provided, single submitterVCV000330325
80.
GRCh37:
Chr19:6711174
GRCh38:
Chr19:6711163
C3E435KAtypical hemolytic uremic syndrome, Macular degeneration, C3 deficiency
Likely benign
(Jun 14, 2016)
criteria provided, single submitterVCV000330326
81.
GRCh37:
Chr19:6711204
GRCh38:
Chr19:6711193
C3R425Cnot providedUncertain significance
(Jun 30, 2017)
criteria provided, single submitterVCV000449567
82.
GRCh37:
Chr19:6712254
GRCh38:
Chr19:6712243
C3Atypical hemolytic uremic syndrome, Macular degeneration, C3 deficiency
Uncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000330327
83.
GRCh37:
Chr19:6712373
GRCh38:
Chr19:6712362
C3Atypical hemolytic uremic syndrome, Macular degeneration, C3 deficiency
Uncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000330328
84.
GRCh37:
Chr19:6712504
GRCh38:
Chr19:6712493
C3Atypical hemolytic uremic syndrome, Macular degeneration, C3 deficiency
Likely benign
(Jun 14, 2016)
criteria provided, single submitterVCV000330329
85.
GRCh37:
Chr19:6712505
GRCh38:
Chr19:6712494
C3Atypical hemolytic uremic syndrome, Macular degeneration, C3 deficiency
Likely benign
(Jun 14, 2016)
criteria provided, single submitterVCV000330330
86.
GRCh37:
Chr19:6712596
GRCh38:
Chr19:6712585
C3I348VAtypical hemolytic uremic syndrome, Macular degeneration, C3 deficiency
Likely benign
(Jun 14, 2016)
criteria provided, single submitterVCV000330331
87.
GRCh37:
Chr19:6713262
GRCh38:
Chr19:6713251
C3L314P, P314LAtypical hemolytic uremic syndrome, C3 POLYMORPHISM, HAV 4-1 PLUS/MINUS TYPE, C3 deficiency,
Macular degeneration
Benign
(Jun 14, 2016)
criteria provided, single submitterVCV000017057
88.
GRCh37:
Chr19:6713291
GRCh38:
Chr19:6713280
C3Atypical hemolytic uremic syndrome, Macular degeneration, C3 deficiency
Benign
(Jun 14, 2016)
criteria provided, single submitterVCV000330332
89.
GRCh37:
Chr19:6713475
GRCh38:
Chr19:6713464
C3Atypical hemolytic uremic syndrome, Macular degeneration, C3 deficiency
Uncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000330333
90.
GRCh37:
Chr19:6713511
GRCh38:
Chr19:6713500
C3Atypical hemolytic uremic syndrome, Macular degeneration, C3 deficiency
Likely benign
(Jun 14, 2016)
criteria provided, single submitterVCV000330334
91.
GRCh37:
Chr19:6713524
GRCh38:
Chr19:6713513
C3Macular degeneration, Atypical hemolytic uremic syndrome, C3 deficiency
Likely benign
(Jun 14, 2016)
criteria provided, single submitterVCV000330335
92.
GRCh37:
Chr19:6714007
GRCh38:
Chr19:6713996
C3A257TAtypical hemolytic-uremic syndrome 5Uncertain significance
(May 16, 2018)
no assertion criteria providedVCV000599116
93.
GRCh37:
Chr19:6714035
GRCh38:
Chr19:6714024
C3Macular degeneration, Atypical hemolytic uremic syndrome, C3 deficiency
Likely benign
(Jun 14, 2016)
criteria provided, single submitterVCV000330336
94.
GRCh37:
Chr19:6714178
GRCh38:
Chr19:6714167
C3Macular degeneration, Atypical hemolytic uremic syndrome, C3 deficiency
Uncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000330337
95.
GRCh37:
Chr19:6714219
GRCh38:
Chr19:6714208
C3P214SAtypical hemolytic-uremic syndrome 5Likely pathogenic
(Dec 20, 2013)
no assertion criteria providedVCV000202203
96.
GRCh37:
Chr19:6714273
GRCh38:
Chr19:6714262
C3C3 deficiency, Macular degeneration, Atypical hemolytic uremic syndrome
Likely benign
(Jun 14, 2016)
criteria provided, single submitterVCV000330338
97.
GRCh37:
Chr19:6714374
GRCh38:
Chr19:6714363
C3Atypical hemolytic uremic syndrome, C3 deficiency, Macular degeneration
Likely benign
(Jun 14, 2016)
criteria provided, single submitterVCV000330339
98.
GRCh37:
Chr19:6718146
GRCh38:
Chr19:6718135
C3K155QAtypical hemolytic-uremic syndrome 5, Complement component 3 deficiency, autosomal recessive, Age-related macular degeneration 9,
MACULAR DEGENERATION, AGE-RELATED, 9, SUSCEPTIBILITY TO, not specified
Uncertain significance
(Oct 31, 2018)
criteria provided, multiple submitters, no conflictsVCV000092162
99.
GRCh37:
Chr19:6718166
GRCh38:
Chr19:6718155
C3R148QAtypical hemolytic uremic syndrome, C3 deficiency, Macular degeneration
Uncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000330340
100.
GRCh37:
Chr19:6718387
GRCh38:
Chr19:6718376
C3R102GMACULAR DEGENERATION, AGE-RELATED, 9, SUSCEPTIBILITY TO, C3S/C3F POLYMORPHISM, Macular degeneration
Benign
(Jun 14, 2016)
criteria provided, single submitterVCV000017056
Format
Items per page
Sort by

Download:

Choose Destination
Support Center