| RS2496385228 |
LRP5
|
Health Risk |
Likely pathogenic |
Exudative vitreoretinopathy 4, Exudative vitreoretinopathy 4 |
| RS2496385772 |
MRE11
|
Health Risk |
Pathogenic |
Ataxia-telangiectasia-like disorder, Ataxia-telangiectasia-like disorder |
| RS2496386852 |
MRE11
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia-like disorder |
| RS2496387448 |
MRE11
|
Health Risk |
Likely pathogenic |
Ataxia-telangiectasia-like disorder 1, Ataxia-telangiectasia-like disorder 1 |
| RS2496387746 |
C2CD3
|
Health Risk |
Pathogenic |
— |
| RS2496388153 |
MRE11
|
Health Risk |
Likely pathogenic |
Ataxia-telangiectasia-like disorder 1, Ataxia-telangiectasia-like disorder 1 |
| RS2496397705 |
MTMR2
|
Health Risk |
Likely pathogenic |
Inborn genetic diseases, Inborn genetic diseases |
| RS2496399525 |
MRE11
|
Health Risk |
Pathogenic |
Ataxia-telangiectasia-like disorder, Ataxia-telangiectasia-like disorder |
| RS2496399657 |
MRE11
|
Health Risk |
Likely pathogenic |
Ataxia-telangiectasia-like disorder 1, Ataxia-telangiectasia-like disorder 1 |
| RS2496400489 |
MRE11
|
Health Risk |
Pathogenic |
Ataxia-telangiectasia-like disorder, Ataxia-telangiectasia-like disorder |
| RS2496401211 |
DYNC2H1
|
Health Risk |
Likely pathogenic |
Asphyxiating thoracic dystrophy 3, Asphyxiating thoracic dystrophy 3 |
| RS2496401454 |
DYNC2H1
|
Health Risk |
Pathogenic |
Jeune thoracic dystrophy, Jeune thoracic dystrophy |
| RS2496403626 |
C2CD3
|
Health Risk |
Pathogenic |
— |
| RS2496407300 |
KCNJ11
|
Health Risk |
Likely pathogenic |
Hyperinsulinemic hypoglycemia, familial |
| RS2496407839 |
KCNJ11
|
Health Risk |
Likely pathogenic |
Type 2 diabetes mellitus, Type 2 diabetes mellitus |
| RS2496407871 |
KCNJ11
|
Health Risk |
Likely pathogenic |
Type 2 diabetes mellitus, Type 2 diabetes mellitus |
| RS2496408893 |
KCNJ11
|
Health Risk |
Likely pathogenic |
Type 2 diabetes mellitus, Type 2 diabetes mellitus |
| RS2496409024 |
KCNJ11
|
Health Risk |
Likely pathogenic |
Type 2 diabetes mellitus, Type 2 diabetes mellitus |
| RS2496409508 |
KCNJ11
|
Health Risk |
Likely pathogenic |
Type 2 diabetes mellitus, Type 2 diabetes mellitus |
| RS2496409837 |
C2CD3
|
Health Risk |
Pathogenic |
— |
| RS2496409870 |
KCNJ11
|
Health Risk |
Likely pathogenic |
Type 2 diabetes mellitus, Type 2 diabetes mellitus |
| RS2496410325 |
DYNC2H1
|
Health Risk |
Pathogenic |
Jeune thoracic dystrophy, Jeune thoracic dystrophy |
| RS2496410381 |
C2CD3
|
Health Risk |
Likely pathogenic |
Orofaciodigital syndrome type 14, Orofaciodigital syndrome type 14 |
| RS2496410564 |
KCNJ11
|
Health Risk |
Likely pathogenic |
Type 2 diabetes mellitus, Type 2 diabetes mellitus |
| RS2496410573 |
KCNJ11
|
Health Risk |
Pathogenic |
— |
| RS2496410962 |
KCNJ11
|
Health Risk |
Likely pathogenic |
Type 2 diabetes mellitus, Type 2 diabetes mellitus |
| RS2496410975 |
KCNJ11
|
Health Risk |
Pathogenic |
— |
| RS2496411251 |
DYNC2H1
|
Health Risk |
Pathogenic |
Jeune thoracic dystrophy, Jeune thoracic dystrophy |
| RS2496411268 |
KCNJ11
|
Health Risk |
Pathogenic |
— |
| RS2496411535 |
KCNJ11
|
Health Risk |
Pathogenic |
— |
| RS2496411563 |
KCNJ11
|
Health Risk |
Likely pathogenic |
— |
| RS2496411567 |
KCNJ11
|
Health Risk |
Likely pathogenic |
Type 2 diabetes mellitus, Type 2 diabetes mellitus |
| RS2496411976 |
KCNJ11
|
Health Risk |
Pathogenic/Likely pathogenic |
Diabetes mellitus, permanent neonatal 2 |
| RS2496412015 |
KCNJ11
|
Health Risk |
Pathogenic |
— |
| RS2496412079 |
KCNJ11
|
Health Risk |
Likely pathogenic |
— |
| RS2496412209 |
KCNJ11
|
Health Risk |
Conflicting classifications of pathogenicity |
Hyperinsulinemic hypoglycemia, familial |
| RS2496414821 |
C2CD3
|
Health Risk |
Pathogenic |
— |
| RS2496419846 |
C2CD3
|
Health Risk |
Likely pathogenic |
C2CD3-related disorder, C2CD3-related disorder |
| RS2496420529 |
C2CD3
|
Health Risk |
Likely pathogenic |
C2CD3-related disorder, C2CD3-related disorder |
| RS2496420567 |
C2CD3
|
Health Risk |
Pathogenic |
— |
| RS2496426326 |
MRE11
|
Health Risk |
Likely pathogenic |
Ataxia-telangiectasia-like disorder 1, Ataxia-telangiectasia-like disorder 1 |
| RS2496427766 |
MRE11
|
Health Risk |
Pathogenic/Likely pathogenic |
Ataxia-telangiectasia-like disorder 1, Ataxia-telangiectasia-like disorder |
| RS2496427855 |
MRE11
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2496429489 |
C2CD3
|
Health Risk |
Pathogenic/Likely pathogenic |
Orofaciodigital syndrome type 14, Orofaciodigital syndrome type 14 |
| RS2496435013 |
ABCC8
|
Health Risk |
Likely pathogenic |
Type 2 diabetes mellitus, Type 2 diabetes mellitus |
| RS2496435088 |
ABCC8
|
Health Risk |
Likely pathogenic |
— |
| RS2496438801 |
ABCC8
|
Health Risk |
Likely pathogenic |
— |
| RS2496438882 |
ABCC8
|
Health Risk |
Likely pathogenic |
ABCC8-related disorder, ABCC8-related disorder |
| RS2496439292 |
C2CD3
|
Health Risk |
Likely pathogenic |
Orofaciodigital syndrome type 14, Orofaciodigital syndrome type 14 |
| RS2496444565 |
SYNE1
|
Health Risk |
Likely pathogenic |
— |
| RS2496445175 |
ABCC8
|
Health Risk |
Pathogenic |
— |
| RS2496448304 |
C2CD3
|
Health Risk |
Pathogenic |
— |
| RS2496449422 |
DYNC2H1
|
Health Risk |
Pathogenic |
Jeune thoracic dystrophy, Jeune thoracic dystrophy |
| RS2496449904 |
ABCC8
|
Health Risk |
Pathogenic |
— |
| RS2496450170 |
ABCC8
|
Health Risk |
Pathogenic |
— |
| RS2496450975 |
ABCC8
|
Health Risk |
Likely pathogenic |
Hyperinsulinemic hypoglycemia, familial |
| RS2496452431 |
MPEG1
|
Health Risk |
Pathogenic |
Primary ciliary dyskinesia 3, Primary ciliary dyskinesia 3 |
| RS2496452499 |
ABCC8
|
Health Risk |
Likely pathogenic |
Type 2 diabetes mellitus, Type 2 diabetes mellitus |
| RS2496452651 |
ABCC8
|
Health Risk |
Likely pathogenic |
Hyperinsulinemic hypoglycemia, familial |
| RS2496452844 |
ABCC8
|
Health Risk |
Pathogenic |
— |
| RS2496453086 |
DYNC2H1
|
Health Risk |
Likely pathogenic |
Jeune thoracic dystrophy, Jeune thoracic dystrophy |
| RS2496453166 |
DYNC2H1
|
Health Risk |
Likely pathogenic |
Asphyxiating thoracic dystrophy 3, Asphyxiating thoracic dystrophy 3 |
| RS2496461164 |
DYNC2H1
|
Health Risk |
Pathogenic |
Jeune thoracic dystrophy, Jeune thoracic dystrophy |
| RS2496461415 |
MRE11
|
Health Risk |
Likely pathogenic |
Ataxia-telangiectasia-like disorder 1, Ataxia-telangiectasia-like disorder 1 |
| RS2496462958 |
ABCC8
|
Health Risk |
Likely pathogenic |
Type 2 diabetes mellitus, Type 2 diabetes mellitus |
| RS2496464671 |
ABCC8
|
Health Risk |
Likely pathogenic |
— |
| RS2496464688 |
ABCC8
|
Health Risk |
Likely pathogenic |
Type 2 diabetes mellitus, Type 2 diabetes mellitus |
| RS2496464774 |
ABCC8
|
Health Risk |
Likely pathogenic |
Hyperinsulinemic hypoglycemia, familial |
| RS2496465221 |
ABCC8
|
Health Risk |
Likely pathogenic |
Hyperinsulinemic hypoglycemia, familial |
| RS2496465239 |
ABCC8
|
Health Risk |
Likely pathogenic |
Hyperinsulinemic hypoglycemia, familial |
| RS2496465721 |
ABCC8
|
Health Risk |
Likely pathogenic |
Hyperinsulinemic hypoglycemia, familial |
| RS2496467270 |
MMP13
|
Health Risk |
Likely pathogenic |
— |
| RS2496469312 |
ABCC8
|
Health Risk |
Likely pathogenic |
Diabetes mellitus, transient neonatal |
| RS2496469826 |
ABCC8
|
Health Risk |
Pathogenic/Likely pathogenic |
Type 2 diabetes mellitus, Hyperinsulinemic hypoglycemia |
| RS2496470052 |
ABCC8
|
Health Risk |
Likely pathogenic |
Type 2 diabetes mellitus, Type 2 diabetes mellitus |
| RS2496470105 |
MMP13
|
Health Risk |
Likely pathogenic |
Spondyloepimetaphyseal dysplasia, Missouri type |
| RS2496470941 |
LRP5
|
Health Risk |
Likely pathogenic |
Exudative vitreoretinopathy 4, Exudative vitreoretinopathy 4 |
| RS2496471186 |
C2CD3
|
Health Risk |
Pathogenic |
— |
| RS2496475041 |
ABCC8
|
Health Risk |
Pathogenic |
— |
| RS2496475095 |
ABCC8
|
Health Risk |
Likely pathogenic |
Hyperinsulinemic hypoglycemia, familial |
| RS2496475651 |
ABCC8
|
Health Risk |
Likely pathogenic |
Hyperinsulinemic hypoglycemia, familial |
| RS2496475676 |
ABCC8
|
Health Risk |
Pathogenic |
— |
| RS2496481690 |
MRE11
|
Health Risk |
Likely pathogenic |
Ataxia-telangiectasia-like disorder, Ataxia-telangiectasia-like disorder |
| RS2496481962 |
MRE11
|
Health Risk |
Pathogenic |
Ataxia-telangiectasia-like disorder, Ataxia-telangiectasia-like disorder |
| RS2496482483 |
LRP5
|
Health Risk |
Conflicting classifications of pathogenicity |
Osteoporosis, Osteoporosis |
| RS2496482538 |
LRP5
|
Health Risk |
Pathogenic |
— |
| RS2496483164 |
MTMR2
|
Health Risk |
Pathogenic |
Charcot-Marie-Tooth disease type 4B1, Charcot-Marie-Tooth disease type 4B1 |
| RS2496485739 |
MRE11
|
Health Risk |
Likely pathogenic |
Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia-like disorder |
| RS2496487970 |
MYO7A
|
Health Risk |
Pathogenic |
Usher syndrome, Usher syndrome |
| RS2496489271 |
MYO7A
|
Health Risk |
Likely pathogenic |
Usher syndrome type 1, Usher syndrome type 1 |
| RS2496490002 |
RASGRP2
|
Health Risk |
Likely pathogenic |
RASGRP2-related disorder, RASGRP2-related disorder |
| RS2496492248 |
C2CD3
|
Health Risk |
Pathogenic |
— |
| RS2496493871 |
MRE11
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2496494951 |
PLCE1
|
Health Risk |
Likely pathogenic |
Nephrotic syndrome, type 3 |
| RS2496495153 |
MRE11
|
Health Risk |
Pathogenic/Likely pathogenic |
Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia-like disorder 1 |
| RS2496495560 |
MRE11
|
Health Risk |
Likely pathogenic |
Ataxia-telangiectasia-like disorder 1, Ataxia-telangiectasia-like disorder 1 |
| RS2496495665 |
MRE11
|
Health Risk |
Pathogenic |
Ataxia-telangiectasia-like disorder, Ataxia-telangiectasia-like disorder |
| RS2496497653 |
MRE11
|
Health Risk |
Pathogenic |
Ataxia-telangiectasia-like disorder, Ataxia-telangiectasia-like disorder |
| RS2496497808 |
MRE11
|
Health Risk |
Likely pathogenic |
Ataxia-telangiectasia-like disorder 1, Ataxia-telangiectasia-like disorder 1 |
| RS2496499778 |
MTMR2
|
Health Risk |
Pathogenic |
Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4 |