| RS1555228569 |
POLE
|
Health Risk |
Likely pathogenic |
— |
| RS1555228629 |
POLE
|
Health Risk |
Conflicting classifications of pathogenicity |
Colorectal cancer, susceptibility to |
| RS1555228640 |
CPT1A
|
Health Risk |
Likely pathogenic |
Carnitine palmitoyl transferase 1A deficiency, Carnitine palmitoyl transferase 1A deficiency |
| RS1555228665 |
SCN8A
|
Health Risk |
Conflicting classifications of pathogenicity |
Febrile seizure (within the age range of 3 months to 6 years), Global developmental delay |
| RS1555228668 |
SCN8A
|
Health Risk |
Likely pathogenic |
Early-infantile DEE, Early-infantile DEE |
| RS1555228669 |
SCN8A
|
Health Risk |
Pathogenic |
Early-infantile DEE, Early-infantile DEE |
| RS1555228770 |
SCN8A
|
Health Risk |
Pathogenic |
Developmental and epileptic encephalopathy, 13 |
| RS1555228771 |
SCN8A
|
Health Risk |
Pathogenic/Likely pathogenic |
Developmental and epileptic encephalopathy, 13 |
| RS1555228912 |
SCN8A
|
Health Risk |
Likely pathogenic |
Myoclonus, familial |
| RS1555228931 |
SCN8A
|
Health Risk |
Conflicting classifications of pathogenicity |
Developmental and epileptic encephalopathy, 13 |
| RS1555229059 |
CPT1A
|
Health Risk |
Pathogenic/Likely pathogenic |
Carnitine palmitoyl transferase 1A deficiency, Carnitine palmitoyl transferase 1A deficiency |
| RS1555229232 |
POLE
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS1555229332 |
POLE
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS1555229333 |
POLE
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS1555229421 |
POLE
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS1555229496 |
SCN8A
|
Health Risk |
Conflicting classifications of pathogenicity |
Developmental and epileptic encephalopathy, 13 |
| RS1555229543 |
SCN8A
|
Health Risk |
Likely pathogenic |
Inborn genetic diseases, Inborn genetic diseases |
| RS1555229633 |
POLE
|
Health Risk |
Conflicting classifications of pathogenicity |
— |
| RS1555229694 |
POLE
|
Health Risk |
Pathogenic |
— |
| RS1555229948 |
DNM1L
|
Health Risk |
Pathogenic |
Optic atrophy 5, Optic atrophy 5 |
| RS1555229978 |
DNM1L
|
Health Risk |
Conflicting classifications of pathogenicity |
Encephalopathy, lethal |
| RS1555230070 |
CBL
|
Health Risk |
Pathogenic/Likely pathogenic |
CBL-related disorder, CBL-related disorder |
| RS1555230115 |
POLE
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS1555230117 |
POLE
|
Health Risk |
Conflicting classifications of pathogenicity |
Colorectal cancer, susceptibility to |
| RS1555230189 |
POLE
|
Health Risk |
Pathogenic |
— |
| RS1555230196 |
POLE
|
Health Risk |
Likely pathogenic |
— |
| RS1555230239 |
POLE
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS1555230326 |
CPT1A
|
Health Risk |
Likely pathogenic |
Carnitine palmitoyl transferase 1A deficiency, Carnitine palmitoyl transferase 1A deficiency |
| RS1555230420 |
POLE
|
Health Risk |
Conflicting classifications of pathogenicity |
Colorectal cancer, susceptibility to |
| RS1555230494 |
CPT1A
|
Health Risk |
Likely pathogenic |
Carnitine palmitoyl transferase 1A deficiency, Carnitine palmitoyl transferase 1A deficiency |
| RS1555230518 |
CPT1A
|
Health Risk |
Likely pathogenic |
Carnitine palmitoyl transferase 1A deficiency, Carnitine palmitoyl transferase 1A deficiency |
| RS1555230905 |
SCN8A
|
Health Risk |
Conflicting classifications of pathogenicity |
Inborn genetic diseases, Early-infantile DEE |
| RS1555230909 |
SCN8A
|
Health Risk |
Conflicting classifications of pathogenicity |
Early-infantile DEE, Early-infantile DEE |
| RS1555230924 |
SCN8A
|
Health Risk |
Pathogenic |
Inborn genetic diseases, Complex neurodevelopmental disorder |
| RS1555230928 |
SCN8A
|
Health Risk |
Likely pathogenic |
Developmental and epileptic encephalopathy, 13 |
| RS1555230931 |
SCN8A
|
Health Risk |
Pathogenic |
Early-infantile DEE, Early-infantile DEE |
| RS1555231010 |
SCN8A
|
Health Risk |
Likely pathogenic |
SCN8A-related disorder, SCN8A-related disorder |
| RS1555231012 |
SCN8A
|
Health Risk |
Likely pathogenic |
Inborn genetic diseases, Developmental and epileptic encephalopathy |
| RS1555231013 |
SCN8A
|
Health Risk |
Conflicting classifications of pathogenicity |
Developmental and epileptic encephalopathy, Developmental and epileptic encephalopathy |
| RS1555231108 |
SCN8A
|
Health Risk |
Conflicting classifications of pathogenicity |
Inborn genetic diseases, Early-infantile DEE |
| RS1555231128 |
SCN8A
|
Health Risk |
Conflicting classifications of pathogenicity |
Myoclonus, Early-infantile DEE |
| RS1555231403 |
POLE
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS1555231426 |
POLE
|
Health Risk |
Conflicting classifications of pathogenicity |
— |
| RS1555231433 |
POLE
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS1555231441 |
POLE
|
Health Risk |
Conflicting classifications of pathogenicity |
Polymerase proofreading-related adenomatous polyposis, Polymerase proofreading-related adenomatous polyposis |
| RS1555234799 |
SGCG
|
Health Risk |
Likely pathogenic |
Autosomal recessive limb-girdle muscular dystrophy type 2C, Autosomal recessive limb-girdle muscular dystrophy type 2C |
| RS1555234810 |
SGCG
|
Health Risk |
Likely pathogenic |
Autosomal recessive limb-girdle muscular dystrophy type 2C, Autosomal recessive limb-girdle muscular dystrophy type 2C |
| RS1555235999 |
ANKLE2
|
Health Risk |
Conflicting classifications of pathogenicity |
Microcephaly 16, primary |
| RS1555237944 |
CEP83
|
Health Risk |
Likely pathogenic |
Nephronophthisis 18, Nephronophthisis 18 |
| RS1555238867 |
SCUBE2
|
Health Risk |
Likely pathogenic |
Cerebral arteriovenous malformation, Cerebral arteriovenous malformation |
| RS1555239555 |
MED13L
|
Health Risk |
Likely pathogenic |
Cardiac anomalies - developmental delay - facial dysmorphism syndrome, Cardiac anomalies - developmental delay - facial dysmorphism syndrome |
| RS1555239936 |
MED13L
|
Health Risk |
Pathogenic |
Inborn genetic diseases, Inborn genetic diseases |
| RS1555240119 |
SGCG
|
Health Risk |
Pathogenic/Likely pathogenic |
Autosomal recessive limb-girdle muscular dystrophy type 2C, Autosomal recessive limb-girdle muscular dystrophy type 2C |
| RS1555240359 |
MED13L
|
Health Risk |
Pathogenic |
Inborn genetic diseases, Inborn genetic diseases |
| RS1555240361 |
MED13L
|
Health Risk |
Pathogenic |
Inborn genetic diseases, Inborn genetic diseases |
| RS1555240376 |
MED13L
|
Health Risk |
Pathogenic/Likely pathogenic |
Inborn genetic diseases, Dextro-looped transposition of the great arteries |
| RS1555241166 |
MED13L
|
Health Risk |
Likely pathogenic |
Cardiac anomalies - developmental delay - facial dysmorphism syndrome, Cardiac anomalies - developmental delay - facial dysmorphism syndrome |
| RS1555241857 |
PDX1
|
Health Risk |
Likely pathogenic |
Pancreatic agenesis 1, Maturity-onset diabetes of the young type 4 |
| RS1555242493 |
MYBPC1
|
Health Risk |
Likely pathogenic |
Distal arthrogryposis, Distal arthrogryposis |
| RS1555243051 |
MED13L
|
Health Risk |
Likely pathogenic |
— |
| RS1555243059 |
MED13L
|
Health Risk |
Pathogenic |
Cardiac anomalies - developmental delay - facial dysmorphism syndrome, Cardiac anomalies - developmental delay - facial dysmorphism syndrome |
| RS1555243086 |
MED13L
|
Health Risk |
Pathogenic |
— |
| RS1555243099 |
MED13L
|
Health Risk |
Likely pathogenic |
Inborn genetic diseases, Inborn genetic diseases |
| RS1555243325 |
IGHMBP2
|
Health Risk |
Pathogenic |
Autosomal recessive distal spinal muscular atrophy 1, Autosomal recessive distal spinal muscular atrophy 1 |
| RS1555243400 |
MED13L
|
Health Risk |
Pathogenic |
— |
| RS1555243580 |
MED13L
|
Health Risk |
Likely pathogenic |
Cardiac anomalies - developmental delay - facial dysmorphism syndrome, Cardiac anomalies - developmental delay - facial dysmorphism syndrome |
| RS1555243582 |
MED13L
|
Health Risk |
Pathogenic |
Cardiac anomalies - developmental delay - facial dysmorphism syndrome, Cardiac anomalies - developmental delay - facial dysmorphism syndrome |
| RS1555243607 |
MED13L
|
Health Risk |
Conflicting classifications of pathogenicity |
Inborn genetic diseases, Inborn genetic diseases |
| RS1555244212 |
MED13L
|
Health Risk |
Likely pathogenic |
Cardiac anomalies - developmental delay - facial dysmorphism syndrome, Marfanoid habitus and intellectual disability |
| RS1555244216 |
MED13L
|
Health Risk |
Likely pathogenic |
Inborn genetic diseases, Inborn genetic diseases |
| RS1555244280 |
ACADS
|
Health Risk |
Pathogenic/Likely pathogenic |
Deficiency of butyryl-CoA dehydrogenase, Deficiency of butyryl-CoA dehydrogenase |
| RS1555244366 |
ACADS
|
Health Risk |
Likely pathogenic |
Deficiency of butyryl-CoA dehydrogenase, Deficiency of butyryl-CoA dehydrogenase |
| RS1555244367 |
ACADS
|
Health Risk |
Likely pathogenic |
Deficiency of butyryl-CoA dehydrogenase, Deficiency of butyryl-CoA dehydrogenase |
| RS1555244975 |
MED13L
|
Health Risk |
Pathogenic |
— |
| RS1555245108 |
MED13L
|
Health Risk |
Pathogenic |
Cardiac anomalies - developmental delay - facial dysmorphism syndrome, MED13L-related disorder |
| RS1555245254 |
MED13L
|
Health Risk |
Likely pathogenic |
— |
| RS1555245351 |
SGCG
|
Health Risk |
Conflicting classifications of pathogenicity |
Autosomal recessive limb-girdle muscular dystrophy type 2C, Autosomal recessive limb-girdle muscular dystrophy type 2C |
| RS1555245353 |
SGCG
|
Health Risk |
Likely pathogenic |
Autosomal recessive limb-girdle muscular dystrophy type 2C, Autosomal recessive limb-girdle muscular dystrophy type 2C |
| RS1555246143 |
MED13L
|
Health Risk |
Likely pathogenic |
Cardiac anomalies - developmental delay - facial dysmorphism syndrome, Cardiac anomalies - developmental delay - facial dysmorphism syndrome |
| RS1555246145 |
MED13L
|
Health Risk |
Pathogenic/Likely pathogenic |
Kabuki-like syndrome, Cardiac anomalies - developmental delay - facial dysmorphism syndrome |
| RS1555246154 |
MED13L
|
Health Risk |
Pathogenic/Likely pathogenic |
Cardiac anomalies - developmental delay - facial dysmorphism syndrome, Dextro-looped transposition of the great arteries |
| RS1555246952 |
MED13L
|
Health Risk |
Pathogenic |
Cardiac anomalies - developmental delay - facial dysmorphism syndrome, Cardiac anomalies - developmental delay - facial dysmorphism syndrome |
| RS1555247218 |
IGHMBP2
|
Health Risk |
Conflicting classifications of pathogenicity |
Charcot-Marie-Tooth disease axonal type 2S, Autosomal recessive distal spinal muscular atrophy 1 |
| RS1555247469 |
MED13L
|
Health Risk |
Pathogenic |
Inborn genetic diseases, Inborn genetic diseases |
| RS1555247672 |
MED13L
|
Health Risk |
Pathogenic |
Cardiac anomalies - developmental delay - facial dysmorphism syndrome, Cardiac anomalies - developmental delay - facial dysmorphism syndrome |
| RS1555247699 |
MED13L
|
Health Risk |
Pathogenic |
Cardiac anomalies - developmental delay - facial dysmorphism syndrome, Cardiac anomalies - developmental delay - facial dysmorphism syndrome |
| RS1555247732 |
IGHMBP2
|
Health Risk |
Pathogenic |
Charcot-Marie-Tooth disease axonal type 2S, Autosomal recessive distal spinal muscular atrophy 1 |
| RS1555247800 |
MED13L
|
Health Risk |
Pathogenic |
Cardiac anomalies - developmental delay - facial dysmorphism syndrome, Cardiac anomalies - developmental delay - facial dysmorphism syndrome |
| RS1555247805 |
MED13L
|
Health Risk |
Pathogenic |
Strabismus, Motor delay |
| RS1555247853 |
MED13L
|
Health Risk |
Pathogenic |
Inborn genetic diseases, Cardiac anomalies - developmental delay - facial dysmorphism syndrome |
| RS1555247936 |
MED13L
|
Health Risk |
Pathogenic |
Inborn genetic diseases, Cardiac anomalies - developmental delay - facial dysmorphism syndrome |
| RS1555247973 |
SGCG
|
Health Risk |
Likely pathogenic |
Autosomal recessive limb-girdle muscular dystrophy type 2C, Autosomal recessive limb-girdle muscular dystrophy type 2C |
| RS1555248000 |
SGCG
|
Health Risk |
Pathogenic |
Autosomal recessive limb-girdle muscular dystrophy type 2C, Autosomal recessive limb-girdle muscular dystrophy type 2C |
| RS1555248020 |
MED13L
|
Health Risk |
Pathogenic |
Inborn genetic diseases, Inborn genetic diseases |
| RS1555248025 |
MED13L
|
Health Risk |
Likely pathogenic |
Cardiac anomalies - developmental delay - facial dysmorphism syndrome, Cardiac anomalies - developmental delay - facial dysmorphism syndrome |
| RS1555248289 |
SGCG
|
Health Risk |
Likely pathogenic |
Autosomal recessive limb-girdle muscular dystrophy type 2C, Autosomal recessive limb-girdle muscular dystrophy type 2C |
| RS1555248311 |
HECTD4
|
Health Risk |
Pathogenic |
Neurodevelopmental disorder with seizures, spasticity |
| RS1555249106 |
SACS
|
Health Risk |
Conflicting classifications of pathogenicity |
Charlevoix-Saguenay spastic ataxia, Charcot-Marie-Tooth disease |
| RS1555249276 |
SACS
|
Health Risk |
Pathogenic |
Charlevoix-Saguenay spastic ataxia, Spastic paraplegia |
| RS1555249326 |
SACS
|
Health Risk |
Likely pathogenic |
Charlevoix-Saguenay spastic ataxia, Charlevoix-Saguenay spastic ataxia |