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 |
|---|---|---|---|---|---|
| 24 | 22 | 61 | 3 | 0 | 110 |
Gene and significance breakdown #
Total genes and gene combinations: 51
| Gene or gene combination | pathogenic | likely pathogenic | uncertain significance | likely benign | total |
|---|---|---|---|---|---|
| SPTB | 3 | 4 | 4 | 0 | 11 |
| GCK | 1 | 0 | 6 | 0 | 7 |
| PROC | 1 | 2 | 3 | 0 | 6 |
| PROS1 | 1 | 2 | 3 | 0 | 6 |
| SLC4A1 | 2 | 1 | 3 | 0 | 6 |
| SPTA1 | 2 | 1 | 2 | 0 | 5 |
| ABCC8 | 0 | 0 | 3 | 1 | 4 |
| ANK1 | 1 | 1 | 1 | 0 | 3 |
| COL4A4 | 0 | 1 | 2 | 0 | 3 |
| HBB, LOC106099062, LOC107133510 | 1 | 0 | 1 | 1 | 3 |
| HNF4A | 0 | 0 | 3 | 0 | 3 |
| NF1 | 3 | 0 | 0 | 0 | 3 |
| ACAN | 1 | 0 | 1 | 0 | 2 |
| ALPL | 0 | 1 | 1 | 0 | 2 |
| CEL | 0 | 1 | 0 | 1 | 2 |
| COL4A5 | 1 | 1 | 0 | 0 | 2 |
| DNAH5 | 1 | 1 | 0 | 0 | 2 |
| HBA1, LOC106804613 | 0 | 0 | 2 | 0 | 2 |
| HBA2, LOC106804612 | 0 | 0 | 2 | 0 | 2 |
| HNF1A | 0 | 1 | 1 | 0 | 2 |
| PKD1L1 | 2 | 0 | 0 | 0 | 2 |
| SLC39A4 | 1 | 1 | 0 | 0 | 2 |
| VWF | 1 | 0 | 1 | 0 | 2 |
| ALDOB | 0 | 0 | 1 | 0 | 1 |
| ATP7B | 0 | 1 | 0 | 0 | 1 |
| CASR | 0 | 0 | 1 | 0 | 1 |
| COL11A1 | 0 | 0 | 1 | 0 | 1 |
| COL1A1 | 1 | 0 | 0 | 0 | 1 |
| COL5A1 | 0 | 1 | 0 | 0 | 1 |
| DRP2 | 0 | 0 | 1 | 0 | 1 |
| F7 | 0 | 0 | 1 | 0 | 1 |
| FBN2 | 0 | 1 | 0 | 0 | 1 |
| FGFR3 | 0 | 0 | 1 | 0 | 1 |
| GJB1 | 0 | 0 | 1 | 0 | 1 |
| HBA2 | 0 | 0 | 1 | 0 | 1 |
| HBD | 0 | 0 | 1 | 0 | 1 |
| HJV | 0 | 0 | 1 | 0 | 1 |
| HNF1B | 0 | 0 | 1 | 0 | 1 |
| IGHMBP2 | 0 | 0 | 1 | 0 | 1 |
| LDLR | 0 | 1 | 0 | 0 | 1 |
| NPR2 | 0 | 0 | 1 | 0 | 1 |
| PCSK9 | 0 | 0 | 1 | 0 | 1 |
| PKD1 | 1 | 0 | 0 | 0 | 1 |
| PRDM5 | 0 | 0 | 1 | 0 | 1 |
| SERPINA1 | 0 | 0 | 1 | 0 | 1 |
| SERPINC1 | 0 | 0 | 1 | 0 | 1 |
| SHOX | 0 | 0 | 1 | 0 | 1 |
| SLC40A1 | 0 | 0 | 1 | 0 | 1 |
| STAT5B | 0 | 0 | 1 | 0 | 1 |
| WNK1 | 0 | 0 | 1 | 0 | 1 |
| WNT5A | 0 | 0 | 1 | 0 | 1 |
Condition and significance breakdown #
Total conditions: 23
| Condition | pathogenic | likely pathogenic | uncertain significance | likely benign | total |
|---|---|---|---|---|---|
| not provided | 17 | 13 | 37 | 3 | 70 |
| Maturity onset diabetes mellitus in young | 0 | 1 | 5 | 0 | 6 |
| Thalassemia | 0 | 0 | 5 | 0 | 5 |
| Spherocytosis | 0 | 1 | 3 | 0 | 4 |
| Hereditary spherocytosis | 2 | 1 | 0 | 0 | 3 |
| Alport syndrome | 0 | 1 | 1 | 0 | 2 |
| Hereditary motor and sensory neuropathy | 0 | 0 | 2 | 0 | 2 |
| Neurofibromatosis, type 1 | 2 | 0 | 0 | 0 | 2 |
| Short stature | 0 | 0 | 2 | 0 | 2 |
| Autosomal dominant polycystic kidney disease | 1 | 0 | 0 | 0 | 1 |
| Congenital contractural arachnodactyly | 0 | 1 | 0 | 0 | 1 |
| Ehlers-Danlos syndrome, classic type, 1 | 0 | 1 | 0 | 0 | 1 |
| Familial hypercholesterolemia | 0 | 0 | 1 | 0 | 1 |
| Hemophilia | 0 | 0 | 1 | 0 | 1 |
| Hereditary fructosuria | 0 | 0 | 1 | 0 | 1 |
| Hereditary spherocytosis type 3 | 1 | 0 | 0 | 0 | 1 |
| Hereditary thrombophilia due to congenital protein C deficiency | 0 | 1 | 0 | 0 | 1 |
| Hypophosphatasia | 0 | 1 | 0 | 0 | 1 |
| Maturity-onset diabetes of the young type 2 | 0 | 0 | 1 | 0 | 1 |
| Neurofibromatosis | 1 | 0 | 0 | 0 | 1 |
| Protein S deficiency disease | 0 | 1 | 0 | 0 | 1 |
| SHOX-related short stature | 0 | 0 | 1 | 0 | 1 |
| alpha Thalassemia | 0 | 0 | 1 | 0 | 1 |