| RS2510654397 |
PIEZO2
|
Health Risk |
Likely pathogenic |
Arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome, Arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome |
| RS2510656344 |
NAGLU
|
Health Risk |
Pathogenic |
Mucopolysaccharidosis, MPS-III-B |
| RS2510656576 |
NAGLU
|
Health Risk |
Likely pathogenic |
Mucopolysaccharidosis, MPS-III-B |
| RS2510656611 |
NAGLU
|
Health Risk |
Pathogenic/Likely pathogenic |
Mucopolysaccharidosis, MPS-III-B |
| RS2510656745 |
NAGLU
|
Health Risk |
Pathogenic |
Mucopolysaccharidosis, MPS-III-B |
| RS2510658575 |
NAGLU
|
Health Risk |
Pathogenic/Likely pathogenic |
Charcot-Marie-Tooth disease axonal type 2V, Mucopolysaccharidosis |
| RS2510658578 |
NAGLU
|
Health Risk |
Pathogenic |
Mucopolysaccharidosis, MPS-III-B |
| RS2510658609 |
NAGLU
|
Health Risk |
Pathogenic |
Mucopolysaccharidosis, MPS-III-B |
| RS2510658779 |
NAGLU
|
Health Risk |
Pathogenic |
Mucopolysaccharidosis, MPS-III-B |
| RS2510659057 |
NAGLU
|
Health Risk |
Conflicting classifications of pathogenicity |
Mucopolysaccharidosis, MPS-III-B |
| RS2510659075 |
NAGLU
|
Health Risk |
Pathogenic |
Charcot-Marie-Tooth disease axonal type 2V, Mucopolysaccharidosis |
| RS2510659102 |
NAGLU
|
Health Risk |
Likely pathogenic |
— |
| RS2510659111 |
NAGLU
|
Health Risk |
Likely pathogenic |
Mucopolysaccharidosis, MPS-III-B |
| RS2510659172 |
NAGLU
|
Health Risk |
Pathogenic/Likely pathogenic |
Charcot-Marie-Tooth disease axonal type 2V, Mucopolysaccharidosis |
| RS2510659337 |
NAGLU
|
Health Risk |
Pathogenic |
Charcot-Marie-Tooth disease axonal type 2V, Mucopolysaccharidosis |
| RS2510659687 |
NAGLU
|
Health Risk |
Conflicting classifications of pathogenicity |
Mucopolysaccharidosis, MPS-III-B |
| RS2510660046 |
NAGLU
|
Health Risk |
Pathogenic/Likely pathogenic |
Mucopolysaccharidosis, MPS-III-B |
| RS2510660121 |
NAGLU
|
Health Risk |
Pathogenic |
Mucopolysaccharidosis, MPS-III-B |
| RS2510660141 |
NAGLU
|
Health Risk |
Pathogenic |
Mucopolysaccharidosis, MPS-III-B |
| RS2510660651 |
NAGLU
|
Health Risk |
Likely pathogenic |
Mucopolysaccharidosis, MPS-III-B |
| RS2510660819 |
NAGLU
|
Health Risk |
Likely pathogenic |
Mucopolysaccharidosis, MPS-III-B |
| RS2510660920 |
NAGLU
|
Health Risk |
Likely pathogenic |
— |
| RS2510660968 |
NAGLU
|
Health Risk |
Pathogenic |
Mucopolysaccharidosis, MPS-III-B |
| RS2510662499 |
PIEZO2
|
Health Risk |
Likely pathogenic |
PIEZO2-related disorder, PIEZO2-related disorder |
| RS2510677991 |
COASY
|
Health Risk |
Pathogenic |
Neurodegeneration with brain iron accumulation 6, Neurodegeneration with brain iron accumulation 6 |
| RS2510678658 |
COASY
|
Health Risk |
Pathogenic |
— |
| RS2510680306 |
COASY
|
Health Risk |
Pathogenic |
Neurodegeneration with brain iron accumulation 6, Neurodegeneration with brain iron accumulation 6 |
| RS2510680823 |
ACE
|
Health Risk |
Likely pathogenic |
Renal tubular dysgenesis of genetic origin, Renal tubular dysgenesis of genetic origin |
| RS2510685781 |
ACE
|
Health Risk |
Pathogenic |
— |
| RS2510685983 |
TBCD
|
Health Risk |
Pathogenic |
— |
| RS2510686085 |
TBCD
|
Health Risk |
Pathogenic |
— |
| RS2510686669 |
PIEZO2
|
Health Risk |
Likely pathogenic |
Arthrogryposis, distal |
| RS2510686780 |
ACE
|
Health Risk |
Likely pathogenic |
Renal tubular dysgenesis of genetic origin, Microvascular complications of diabetes |
| RS2510687443 |
ACE
|
Health Risk |
Likely pathogenic |
Renal tubular dysgenesis of genetic origin, Renal tubular dysgenesis of genetic origin |
| RS2510688530 |
ACE
|
Health Risk |
Likely pathogenic |
ACE-related disorder, ACE-related disorder |
| RS2510690670 |
MIB1
|
Health Risk |
Likely pathogenic |
Left ventricular noncompaction 7, Left ventricular noncompaction 7 |
| RS2510697055 |
PIEZO2
|
Health Risk |
Likely pathogenic |
PIEZO2-related disorder, PIEZO2-related disorder |
| RS2510733383 |
TUBG1
|
Health Risk |
Likely pathogenic |
Complex cortical dysplasia with other brain malformations 4, Complex cortical dysplasia with other brain malformations 4 |
| RS2510734532 |
TBCD
|
Health Risk |
Likely pathogenic |
Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome, Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome |
| RS2510734593 |
TUBG1
|
Health Risk |
Likely pathogenic |
Complex cortical dysplasia with other brain malformations 4, Complex cortical dysplasia with other brain malformations 4 |
| RS2510735739 |
TUBG1
|
Health Risk |
Likely pathogenic |
Complex cortical dysplasia with other brain malformations 4, Complex cortical dysplasia with other brain malformations 4 |
| RS2510748903 |
PIEZO2
|
Health Risk |
Pathogenic |
Arthrogryposis, distal |
| RS2510755990 |
TMC8
|
Health Risk |
Pathogenic |
Epidermodysplasia verruciformis, Epidermodysplasia verruciformis |
| RS2510757178 |
KANSL1
|
Health Risk |
Pathogenic |
See cases, See cases |
| RS2510757518 |
KANSL1
|
Health Risk |
Conflicting classifications of pathogenicity |
Koolen-de Vries syndrome, Koolen-de Vries syndrome |
| RS2510757865 |
TBCD
|
Health Risk |
Pathogenic |
— |
| RS2510758066 |
PIEZO2
|
Health Risk |
Likely pathogenic |
Arthrogryposis, distal |
| RS2510758244 |
PIEZO2
|
Health Risk |
Pathogenic |
Arthrogryposis, distal |
| RS2510758717 |
KANSL1
|
Health Risk |
Pathogenic |
Koolen-de Vries syndrome, Koolen-de Vries syndrome |
| RS2510761349 |
TBCD
|
Health Risk |
Likely pathogenic |
— |
| RS2510764215 |
MIB1
|
Health Risk |
Likely pathogenic |
Left ventricular noncompaction 7, Left ventricular noncompaction 7 |
| RS2510766564 |
PIEZO2
|
Health Risk |
Likely pathogenic |
Arthrogryposis, distal |
| RS2510766806 |
PIEZO2
|
Health Risk |
Likely pathogenic |
Gordon syndrome, Gordon syndrome |
| RS2510767400 |
PIEZO2
|
Health Risk |
Likely pathogenic |
Marden-Walker syndrome, Marden-Walker syndrome |
| RS2510778223 |
CDH2
|
Health Risk |
Likely pathogenic |
— |
| RS2510780271 |
TMC8
|
Health Risk |
risk factor |
Epidermodysplasia verruciformis, susceptibility to |
| RS2510780750 |
TBCD
|
Health Risk |
Pathogenic |
— |
| RS2510781006 |
PIEZO2
|
Health Risk |
Likely pathogenic |
Arthrogryposis, distal |
| RS2510782100 |
TBCD
|
Health Risk |
Likely pathogenic |
— |
| RS2510784485 |
TBCD
|
Health Risk |
Pathogenic |
— |
| RS2510784493 |
TBCD
|
Health Risk |
Pathogenic |
Familial cancer of breast, Familial cancer of breast |
| RS2510788970 |
TMC8
|
Health Risk |
Pathogenic |
Epidermodysplasia verruciformis, Epidermodysplasia verruciformis |
| RS2510788991 |
TMC8
|
Health Risk |
Pathogenic |
Epidermodysplasia verruciformis, susceptibility to |
| RS2510790722 |
CDH2
|
Health Risk |
Conflicting classifications of pathogenicity |
— |
| RS2510798953 |
CDH2
|
Health Risk |
Likely pathogenic |
— |
| RS2510799501 |
CDH2
|
Health Risk |
Pathogenic |
Arrhythmogenic right ventricular dysplasia, familial |
| RS2510802345 |
PIEZO2
|
Health Risk |
Pathogenic |
— |
| RS2510806153 |
TMC8
|
Health Risk |
Pathogenic |
Epidermodysplasia verruciformis, Epidermodysplasia verruciformis |
| RS2510810419 |
TMC8
|
Health Risk |
Pathogenic |
Epidermodysplasia verruciformis, Epidermodysplasia verruciformis |
| RS2510812563 |
TMC8
|
Health Risk |
Likely pathogenic |
Epidermodysplasia verruciformis, Epidermodysplasia verruciformis |
| RS2510814370 |
TBCD
|
Health Risk |
Pathogenic |
— |
| RS2510814794 |
LAMA1
|
Health Risk |
Pathogenic |
LAMA1-related disorder, LAMA1-related disorder |
| RS2510814886 |
LAMA1
|
Health Risk |
Likely pathogenic |
Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome, Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome |
| RS2510816942 |
LAMA1
|
Health Risk |
Pathogenic |
— |
| RS2510816952 |
CDH2
|
Health Risk |
Likely pathogenic |
Attention deficit-hyperactivity disorder 8, Attention deficit-hyperactivity disorder 8 |
| RS2510818669 |
CDH2
|
Health Risk |
Likely pathogenic |
— |
| RS2510825951 |
LAMA1
|
Health Risk |
Pathogenic |
— |
| RS2510831266 |
LAMA1
|
Health Risk |
Pathogenic |
— |
| RS2510835337 |
LAMA1
|
Health Risk |
Conflicting classifications of pathogenicity |
Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome, Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome |
| RS2510843805 |
LAMA1
|
Health Risk |
Pathogenic |
Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome, Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome |
| RS2510843811 |
LAMA1
|
Health Risk |
Pathogenic |
— |
| RS2510845796 |
DSG1
|
Health Risk |
Pathogenic |
— |
| RS2510846042 |
DSG1
|
Health Risk |
Likely pathogenic |
— |
| RS2510846100 |
LAMA1
|
Health Risk |
Pathogenic |
— |
| RS2510846304 |
LAMA1
|
Health Risk |
Pathogenic |
Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome, Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome |
| RS2510850080 |
LAMA1
|
Health Risk |
Likely pathogenic |
Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome, Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome |
| RS2510854985 |
SGSH
|
Health Risk |
Likely pathogenic |
Mucopolysaccharidosis, MPS-III-A |
| RS2510855421 |
SGSH
|
Health Risk |
Likely pathogenic |
Mucopolysaccharidosis, MPS-III-A |
| RS2510855573 |
SGSH
|
Health Risk |
Pathogenic |
Mucopolysaccharidosis, MPS-III-A |
| RS2510855616 |
SGSH
|
Health Risk |
Pathogenic |
Mucopolysaccharidosis, MPS-III-A |
| RS2510855800 |
SGSH
|
Health Risk |
Likely pathogenic |
Mucopolysaccharidosis, MPS-III-A |
| RS2510856163 |
SGSH
|
Health Risk |
Likely pathogenic |
Mucopolysaccharidosis, MPS-III-A |
| RS2510856564 |
SGSH
|
Health Risk |
Likely pathogenic |
Mucopolysaccharidosis, MPS-III-A |
| RS2510856684 |
SGSH
|
Health Risk |
Pathogenic |
Mucopolysaccharidosis, MPS-III-A |
| RS2510857524 |
SGSH
|
Health Risk |
Pathogenic |
Mucopolysaccharidosis, MPS-III-A |
| RS2510857678 |
SGSH
|
Health Risk |
Pathogenic |
Mucopolysaccharidosis, MPS-III-A |
| RS2510857830 |
SGSH
|
Health Risk |
Pathogenic |
Mucopolysaccharidosis, MPS-III-A |
| RS2510857875 |
SGSH
|
Health Risk |
Pathogenic |
Mucopolysaccharidosis, MPS-III-A |
| RS2510858088 |
SGSH
|
Health Risk |
Likely pathogenic |
Mucopolysaccharidosis, MPS-III-A |
| RS2510858347 |
SGSH
|
Health Risk |
Likely pathogenic |
Mucopolysaccharidosis, MPS-III-A |