ClinVar Miner

Variants from Genomenon, Inc, Genomenon, Inc

Location: United States  Primary collection method: curation
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:

If a variant has more than one submission, it may be counted in more than one significance column. If this is the case, the total number of variants will be less than the sum of the other cells.

pathogenic likely pathogenic uncertain significance likely benign benign total
1530 959 2217 206 292 5204

Gene and significance breakdown #

Total genes and gene combinations: 23
Download table as spreadsheet
Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
GLA, RPL36A-HNRNPH2 705 352 262 16 21 1356
ABCB11 146 69 367 33 41 656
CFH 105 75 377 24 46 627
ABCB4 117 62 334 38 21 572
ALPL 190 200 91 14 18 513
ATP8B1 66 30 130 32 38 296
CFI 44 86 128 9 23 290
C3 17 17 196 13 28 271
CD46 34 6 119 5 12 176
THBD 0 2 94 12 10 118
TK2 32 37 27 1 7 104
DGKE 32 7 25 1 6 71
CFB 6 5 29 3 16 59
ABCB11, LOC126806400 10 7 19 1 2 39
ENPP1 15 1 4 0 0 20
CD46, LOC129932405 1 1 8 2 1 13
ATP8B1, LOC126862761 1 1 5 1 0 8
ABCB4, LOC129998756 4 1 1 1 0 7
LOC130059156, TK2 3 0 0 0 1 4
ABCB4, LOC129998757 0 0 1 0 0 1
C2, CFB 0 0 0 0 1 1
CCN2, CTAGE9, ENPP1, ENPP3, LINC01013, LOC111365199, LOC123864069, LOC123864070, LOC126859789, LOC126859790, LOC129997167, LOC129997168, MIR548AJ1, MIR548H5, OR2A4 1 0 0 0 0 1
GLA, HNRNPH2, RPL36A-HNRNPH2 1 0 0 0 0 1

Condition and significance breakdown #

Total conditions: 34
Download table as spreadsheet
Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Fabry disease 706 352 262 16 21 1357
Familial intrahepatic cholestasis 304 141 696 76 81 1298
Atypical hemolytic-uremic syndrome 151 67 412 23 30 683
Hypophosphatasia 190 200 91 14 18 513
Basal laminar drusen; Factor H deficiency; Age related macular degeneration 4; Atypical hemolytic-uremic syndrome 0 21 137 12 46 216
CFI-related disorder 35 70 75 6 23 209
Low phospholipid associated cholelithiasis; Familial intrahepatic cholestasis 20 24 106 30 21 201
Thrombomodulin-related bleeding disorder 0 2 94 12 10 118
Atypical hemolytic-uremic syndrome; Complement component 3 deficiency; C3 glomerulonephritis 0 0 79 5 28 112
Mitochondrial disease 35 37 27 1 8 108
Age related macular degeneration 4 12 5 69 4 0 90
Low phospholipid associated cholelithiasis 20 5 55 0 0 80
C3 glomerulonephritis 0 1 49 1 0 51
Complement component 3 deficiency 17 5 4 0 0 26
Age related macular degeneration 4; Atypical hemolytic-uremic syndrome 2 7 14 1 0 24
Immunoglobulin-mediated membranoproliferative glomerulonephritis; Mesangiocapillary glomerulonephritis 0 0 9 1 6 16
Arterial calcification, generalized, of infancy, 1 10 1 4 0 0 15
Factor H deficiency 3 3 8 1 0 15
Atypical hemolytic-uremic syndrome; C3 glomerulonephritis 0 3 9 1 0 13
Factor H deficiency; Atypical hemolytic-uremic syndrome 3 4 2 0 0 9
Factor H deficiency; Age related macular degeneration 4; Atypical hemolytic-uremic syndrome 2 2 2 2 0 8
Arterial calcification, generalized, of infancy, 1; Hypophosphatemic rickets, autosomal recessive, 2 7 0 0 0 0 7
Atypical hemolytic-uremic syndrome; Mesangiocapillary glomerulonephritis 2 1 4 0 0 7
Factor I deficiency 0 5 2 0 0 7
Basal laminar drusen; Age related macular degeneration 4 3 0 2 0 0 5
Mesangiocapillary glomerulonephritis 4 0 1 0 0 5
Basal laminar drusen 1 1 1 0 0 3
Basal laminar drusen; Atypical hemolytic-uremic syndrome 2 0 1 0 0 3
Factor H deficiency; Age related macular degeneration 4 1 1 0 0 0 2
Basal laminar drusen; Age related macular degeneration 4; Atypical hemolytic-uremic syndrome 0 0 1 0 0 1
Basal laminar drusen; Factor H deficiency 0 0 1 0 0 1
Basal laminar drusen; Factor H deficiency; Age related macular degeneration 4 0 1 0 0 0 1
Basal laminar drusen; Factor H deficiency; Atypical hemolytic-uremic syndrome 1 0 0 0 0 1
Hypophosphatemic rickets, autosomal recessive, 2 1 0 0 0 0 1

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. The submitted information has not been verified. If you have questions about the information contained on this website, please see a health care professional.