| RS1708609129 |
TTN
|
Health Risk |
Likely pathogenic |
Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J |
| RS1708629 |
FLCN
|
Health Risk |
Conflicting classifications of pathogenicity |
Birt-Hogg-Dube syndrome, Familial spontaneous pneumothorax |
| RS1708665916 |
PROS1
|
Health Risk |
Pathogenic/Likely pathogenic |
Thrombophilia due to protein S deficiency, autosomal recessive |
| RS1708666412 |
PROS1
|
Health Risk |
Pathogenic |
Thrombophilia due to protein S deficiency, autosomal recessive |
| RS1708668246 |
PROS1
|
Health Risk |
Pathogenic |
Thrombophilia due to protein S deficiency, autosomal recessive |
| RS1708673550 |
TTN
|
Health Risk |
Likely pathogenic |
Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J |
| RS1708759700 |
TTN
|
Health Risk |
Likely pathogenic |
Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J |
| RS1708834541 |
TTN
|
Health Risk |
Likely pathogenic |
Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G |
| RS1708864326 |
TTN
|
Health Risk |
Likely pathogenic |
Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J |
| RS1708937897 |
TTN
|
Health Risk |
Likely pathogenic |
Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J |
| RS17089782 |
PIBF1
|
Health Risk |
Conflicting classifications of pathogenicity |
Joubert syndrome, Joubert syndrome 33 |
| RS1708985469 |
PROS1
|
Health Risk |
Likely pathogenic |
Thrombophilia due to protein S deficiency, autosomal recessive |
| RS1708996209 |
TTN
|
Health Risk |
Pathogenic/Likely pathogenic |
Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J |
| RS1709014153 |
TTN
|
Health Risk |
Likely pathogenic |
Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G |
| RS1709033502 |
PROS1
|
Health Risk |
Pathogenic |
Thrombophilia due to protein S deficiency, autosomal recessive |
| RS1709034856 |
PROS1
|
Health Risk |
Pathogenic |
Protein S deficiency disease, Protein S deficiency disease |
| RS1709055431 |
TTN
|
Health Risk |
Likely pathogenic |
Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J |
| RS1709067373 |
TTN
|
Health Risk |
Likely pathogenic |
Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G |
| RS1709072898 |
ATP6V1A
|
Health Risk |
Pathogenic/Likely pathogenic |
Developmental and epileptic encephalopathy 93, Inborn genetic diseases |
| RS1709195189 |
TTN
|
Health Risk |
Likely pathogenic |
Hypertrophic cardiomyopathy 9, Cardiovascular phenotype |
| RS1709263798 |
ATP6V1A
|
Health Risk |
Likely pathogenic |
Developmental and epileptic encephalopathy 93, Developmental and epileptic encephalopathy 93 |
| RS1709340590 |
MDH1
|
Health Risk |
Pathogenic |
Developmental and epileptic encephalopathy, 88 |
| RS1709360511 |
TTN
|
Health Risk |
Likely pathogenic |
Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J |
| RS1709406368 |
TTN
|
Health Risk |
Likely pathogenic |
Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G |
| RS1709445083 |
TTN
|
Health Risk |
Pathogenic |
Dilated cardiomyopathy 1A, Dilated cardiomyopathy 1A |
| RS1709461632 |
TTN
|
Health Risk |
Likely pathogenic |
Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J |
| RS1709484351 |
TTN
|
Health Risk |
Likely pathogenic |
Cardiomyopathy, Cardiomyopathy |
| RS1709548356 |
TTN
|
Health Risk |
Likely pathogenic |
Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G |
| RS1709577304 |
TTN
|
Health Risk |
Pathogenic/Likely pathogenic |
Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J |
| RS1709617800 |
TTN
|
Health Risk |
Likely pathogenic |
Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G |
| RS1709631095 |
TTN
|
Health Risk |
Likely pathogenic |
Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G |
| RS1709673176 |
TTN
|
Health Risk |
Likely pathogenic |
Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J |
| RS1709775754 |
TTN
|
Health Risk |
Likely pathogenic |
Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J |
| RS1709809170 |
TTN
|
Health Risk |
Likely pathogenic |
Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J |
| RS17098831 |
MMP20
|
Health Risk |
Conflicting classifications of pathogenicity |
Amelogenesis imperfecta hypomaturation type 2A2, Amelogenesis imperfecta hypomaturation type 2A2 |
| RS1709972937 |
TTN
|
Health Risk |
Likely pathogenic |
Cardiomyopathy, Cardiomyopathy |
| RS1710030273 |
ACVR2B
|
Health Risk |
Likely pathogenic |
Heterotaxy, visceral |
| RS1710057805 |
TTN
|
Health Risk |
Likely pathogenic |
Primary familial dilated cardiomyopathy, Autosomal recessive limb-girdle muscular dystrophy type 2J |
| RS1710156502 |
ARL13B
|
Health Risk |
Likely pathogenic |
Joubert syndrome and related disorders, Joubert syndrome and related disorders |
| RS17102066 |
POMGNT1
|
Health Risk |
Conflicting classifications of pathogenicity |
Congenital Muscular Dystrophy, alpha-dystroglycan related |
| RS1710670079 |
ZBTB47
|
Health Risk |
Conflicting classifications of pathogenicity |
— |
| RS17107315 |
SPINK1
|
Health Risk |
Conflicting classifications of pathogenicity; association; risk factor |
Pancreatitis, chronic |
| RS17107318 |
SPINK1
|
Health Risk |
Benign/Likely benign; risk factor |
Hereditary pancreatitis, Hereditary pancreatitis |
| RS17109205 |
SH3TC2
|
Health Risk |
Conflicting classifications of pathogenicity |
Susceptibility to mononeuropathy of the median nerve, mild |
| RS17109853 |
HPS1
|
Health Risk |
Conflicting classifications of pathogenicity |
Hermansky-Pudlak syndrome, HPS1-related disorder |
| RS1711502781 |
CCDC39
|
Health Risk |
Pathogenic |
Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS1711503031 |
CCDC39
|
Health Risk |
Pathogenic |
Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS17115125 |
CYP17A1
|
Health Risk |
Conflicting classifications of pathogenicity |
Deficiency of steroid 17-alpha-monooxygenase, Deficiency of steroid 17-alpha-monooxygenase |
| RS1711513392 |
OPA1
|
Health Risk |
Likely pathogenic |
OPA1-related disorder, OPA1-related disorder |
| RS1711513680 |
OPA1
|
Health Risk |
Likely pathogenic |
Autosomal dominant optic atrophy classic form, Autosomal dominant optic atrophy classic form |
| RS1711514692 |
OPA1
|
Health Risk |
Pathogenic |
— |
| RS1711518217 |
OPA1
|
Health Risk |
Pathogenic/Likely pathogenic |
Autosomal dominant optic atrophy classic form, Optic atrophy |
| RS1711543098 |
CCDC39
|
Health Risk |
Likely pathogenic |
Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS1711573891 |
MME
|
Health Risk |
Pathogenic |
— |
| RS1711679334 |
WDR1
|
Health Risk |
Pathogenic |
Lazy leukocyte syndrome, Lazy leukocyte syndrome |
| RS1711686356 |
CCDC39
|
Health Risk |
Pathogenic |
Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS1711686897 |
CCDC39
|
Health Risk |
Pathogenic |
Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS1711717951 |
CCDC39
|
Health Risk |
Pathogenic |
Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS1711773849 |
SLC7A14
|
Health Risk |
Likely pathogenic |
Retinal dystrophy, Retinal dystrophy |
| RS1711989766 |
MED12L
|
Health Risk |
Pathogenic |
Nizon-Isidor syndrome, Nizon-Isidor syndrome |
| RS1711990645 |
CLRN2
|
Health Risk |
Pathogenic |
Hearing loss, autosomal recessive 117 |
| RS1712012647 |
SACS
|
Health Risk |
Pathogenic/Likely pathogenic |
Spastic paraplegia, Charlevoix-Saguenay spastic ataxia |
| RS1712031289 |
MCCC1
|
Health Risk |
Pathogenic |
3-methylcrotonyl-CoA carboxylase 1 deficiency, 3-methylcrotonyl-CoA carboxylase 1 deficiency |
| RS1712081462 |
WT1
|
Health Risk |
Conflicting classifications of pathogenicity |
Nephrotic syndrome, type 4 |
| RS17121818 |
SCN2B
|
Health Risk |
Conflicting classifications of pathogenicity |
Atrial fibrillation, familial |
| RS17121819 |
SCN2B
|
Health Risk |
Conflicting classifications of pathogenicity |
Atrial fibrillation, familial |
| RS1712230544 |
MCCC1
|
Health Risk |
Pathogenic/Likely pathogenic |
3-methylcrotonyl-CoA carboxylase 1 deficiency, 3-methylcrotonyl-CoA carboxylase 1 deficiency |
| RS1712331034 |
SEPSECS
|
Health Risk |
Pathogenic |
— |
| RS1712442528 |
WDR1
|
Health Risk |
Pathogenic |
Lazy leukocyte syndrome, Lazy leukocyte syndrome |
| RS1712445918 |
WDR1
|
Health Risk |
Pathogenic |
Intellectual developmental disorder 61, Intellectual developmental disorder 61 |
| RS1712472176 |
GYG1
|
Health Risk |
Likely pathogenic |
Polyglucosan body myopathy type 2, Glycogen storage disease XV |
| RS1712515698 |
P3H2
|
Health Risk |
Pathogenic |
— |
| RS1712525349 |
WDR1
|
Health Risk |
Pathogenic |
Lazy leukocyte syndrome, Lazy leukocyte syndrome |
| RS1712607979 |
SEPSECS
|
Health Risk |
Pathogenic |
— |
| RS1712611940 |
SI
|
Health Risk |
Likely pathogenic |
Sucrase-isomaltase deficiency, Sucrase-isomaltase deficiency |
| RS1712612053 |
SEPSECS
|
Health Risk |
Pathogenic/Likely pathogenic |
Pontocerebellar hypoplasia type 2D, Pontocerebellar hypoplasia type 2D |
| RS1712612585 |
SEPSECS
|
Health Risk |
Pathogenic/Likely pathogenic |
Pontocerebellar hypoplasia type 2D, Pontocerebellar hypoplasia type 2D |
| RS1712612783 |
SEPSECS
|
Health Risk |
Pathogenic |
— |
| RS1712817364 |
GYG1
|
Health Risk |
Likely pathogenic |
— |
| RS1712967888 |
MME
|
Health Risk |
Likely pathogenic |
— |
| RS1713131684 |
TBL1XR1
|
Health Risk |
Likely pathogenic |
Intellectual disability, Intellectual disability |
| RS1713182815 |
MASP1
|
Health Risk |
Likely pathogenic |
3MC syndrome 1, 3MC syndrome 1 |
| RS1713228964 |
EVC
|
Health Risk |
Likely pathogenic |
Ellis-van Creveld syndrome, Curry-Hall syndrome |
| RS1713305306 |
SAMD7
|
Health Risk |
Pathogenic |
MACULAR DYSTROPHY WITH CONE DYSFUNCTION, MACULAR DYSTROPHY WITH CONE DYSFUNCTION |
| RS1713312742 |
EIF2B5
|
Health Risk |
Likely pathogenic |
— |
| RS17133512 |
DSP
|
Health Risk |
Conflicting classifications of pathogenicity |
Cardiovascular phenotype, Cardiomyopathy |
| RS1713376361 |
EIF2B5
|
Health Risk |
Pathogenic |
— |
| RS1713427542 |
OPA1
|
Health Risk |
Pathogenic |
Optic atrophy, Optic atrophy |
| RS1713453539 |
EIF2B5
|
Health Risk |
Likely pathogenic |
— |
| RS17135779 |
PKD1
|
Health Risk |
Conflicting classifications of pathogenicity |
Polycystic kidney disease, adult type |
| RS1713659739 |
EIF2B5
|
Health Risk |
Likely pathogenic |
— |
| RS1713693597 |
MCCC1
|
Health Risk |
Pathogenic/Likely pathogenic |
3-methylcrotonyl-CoA carboxylase 1 deficiency, 3-methylcrotonyl-CoA carboxylase 1 deficiency |
| RS1713695107 |
MCCC1
|
Health Risk |
Pathogenic |
3-methylcrotonyl-CoA carboxylase 1 deficiency, 3-methylcrotonyl-CoA carboxylase 1 deficiency |
| RS1713700813 |
MCCC1
|
Health Risk |
Pathogenic/Likely pathogenic |
3-methylcrotonyl-CoA carboxylase 1 deficiency, 3-methylcrotonyl-CoA carboxylase 1 deficiency |
| RS1713714520 |
WDR1
|
Health Risk |
Pathogenic |
Lazy leukocyte syndrome, Lazy leukocyte syndrome |
| RS17137190 |
CYFIP1
|
Health Risk |
Conflicting classifications of pathogenicity |
— |
| RS1713781736 |
EIF2B5
|
Health Risk |
Pathogenic |
Vanishing white matter disease, Vanishing white matter disease |
| RS1713799705 |
IDUA;SLC26A1
|
Health Risk |
Likely pathogenic |
Mucopolysaccharidosis type 1, Mucopolysaccharidosis type 1 |
| RS1713799895 |
IDUA
|
Health Risk |
Pathogenic |
Mucopolysaccharidosis type 1, Mucopolysaccharidosis type 1 |
| RS1713844309 |
CLRN1
|
Health Risk |
Pathogenic |
— |