| RS2465498743 |
OTOF
|
Health Risk |
Likely pathogenic |
Auditory neuropathy, Auditory neuropathy |
| RS2465498866 |
OTOF
|
Health Risk |
Pathogenic |
— |
| RS2465500248 |
DNMT3A
|
Health Risk |
Pathogenic |
Tatton-Brown-Rahman overgrowth syndrome, Tatton-Brown-Rahman overgrowth syndrome |
| RS2465500821 |
OTOF
|
Health Risk |
Pathogenic |
— |
| RS2465503929 |
EIF2B4
|
Health Risk |
Pathogenic |
— |
| RS2465504793 |
HADHA
|
Health Risk |
Likely pathogenic |
Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency, Mitochondrial trifunctional protein deficiency |
| RS2465504803 |
HADHA
|
Health Risk |
Pathogenic |
Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency, Mitochondrial trifunctional protein deficiency |
| RS2465504974 |
HADHA
|
Health Risk |
Likely pathogenic |
Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency, Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency |
| RS2465504992 |
HADHA
|
Health Risk |
Likely pathogenic |
Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency, Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency |
| RS2465505035 |
HADHA
|
Health Risk |
Pathogenic |
Mitochondrial trifunctional protein deficiency, Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency |
| RS2465505643 |
HADHA
|
Health Risk |
Likely pathogenic |
Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency, Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency |
| RS2465505781 |
EIF2B4
|
Health Risk |
Likely pathogenic |
— |
| RS2465505786 |
HADHA
|
Health Risk |
Pathogenic |
Mitochondrial trifunctional protein deficiency, Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency |
| RS2465505815 |
HADHA
|
Health Risk |
Likely pathogenic |
Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency, Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency |
| RS2465505819 |
HADHA
|
Health Risk |
Likely pathogenic |
Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency, Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency |
| RS2465505832 |
HADHA
|
Health Risk |
Likely pathogenic |
Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency, Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency |
| RS2465506002 |
HADHA
|
Health Risk |
Pathogenic |
Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency, Mitochondrial trifunctional protein deficiency |
| RS2465506111 |
HADHA
|
Health Risk |
Pathogenic |
Mitochondrial trifunctional protein deficiency, Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency |
| RS2465508062 |
OTOF
|
Health Risk |
Likely pathogenic |
Autosomal recessive nonsyndromic hearing loss 9, Autosomal recessive nonsyndromic hearing loss 9 |
| RS2465508542 |
HADHA
|
Health Risk |
Likely pathogenic |
Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency, Mitochondrial trifunctional protein deficiency |
| RS2465508561 |
HADHA
|
Health Risk |
Likely pathogenic |
Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency, Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency |
| RS2465508625 |
HADHA
|
Health Risk |
Pathogenic |
Mitochondrial trifunctional protein deficiency, Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency |
| RS2465508638 |
HADHA
|
Health Risk |
Pathogenic/Likely pathogenic |
Mitochondrial trifunctional protein deficiency, Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency |
| RS2465508716 |
HADHA
|
Health Risk |
Pathogenic/Likely pathogenic |
Mitochondrial trifunctional protein deficiency, Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency |
| RS2465508731 |
HADHA
|
Health Risk |
Likely pathogenic |
Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency, Mitochondrial trifunctional protein deficiency |
| RS2465509980 |
EIF2B4
|
Health Risk |
Pathogenic |
— |
| RS2465513035 |
HADHA
|
Health Risk |
Pathogenic/Likely pathogenic |
Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency, Mitochondrial trifunctional protein deficiency |
| RS2465514847 |
EIF2B4
|
Health Risk |
Pathogenic |
— |
| RS2465515802 |
HADHA
|
Health Risk |
Likely pathogenic |
Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency, Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency |
| RS2465515861 |
HADHA
|
Health Risk |
Conflicting classifications of pathogenicity |
Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency, Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency |
| RS2465515942 |
HADHA
|
Health Risk |
Likely pathogenic |
Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency, Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency |
| RS2465517597 |
HADHA
|
Health Risk |
Pathogenic/Likely pathogenic |
Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency, Mitochondrial trifunctional protein deficiency |
| RS2465517653 |
HADHA
|
Health Risk |
Pathogenic |
Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency, Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency |
| RS2465517691 |
HADHA
|
Health Risk |
Likely pathogenic |
Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency, Mitochondrial trifunctional protein deficiency |
| RS2465517976 |
OTOF
|
Health Risk |
Pathogenic |
— |
| RS2465518458 |
OTOF
|
Health Risk |
Likely pathogenic |
Autosomal recessive nonsyndromic hearing loss 9, Autosomal recessive nonsyndromic hearing loss 9 |
| RS2465518726 |
OTOF
|
Health Risk |
Pathogenic |
— |
| RS2465519029 |
OTOF
|
Health Risk |
Likely pathogenic |
Auditory neuropathy, Auditory neuropathy |
| RS2465519163 |
EIF2B4
|
Health Risk |
Likely pathogenic |
Vanishing white matter disease, Vanishing white matter disease |
| RS2465522454 |
DNMT3A
|
Health Risk |
Pathogenic |
Tatton-Brown-Rahman overgrowth syndrome, Tatton-Brown-Rahman overgrowth syndrome |
| RS2465523611 |
OTOF
|
Health Risk |
Likely pathogenic |
Auditory neuropathy, Auditory neuropathy |
| RS2465523922 |
OTOF
|
Health Risk |
Pathogenic |
Tricho-oculo-dermo-vertebral syndrome, Tricho-oculo-dermo-vertebral syndrome |
| RS2465525224 |
EIF2B4
|
Health Risk |
Pathogenic |
— |
| RS2465530027 |
EIF2B4
|
Health Risk |
Pathogenic |
— |
| RS2465531415 |
OTOF
|
Health Risk |
Pathogenic |
— |
| RS2465533651 |
OTOF
|
Health Risk |
Pathogenic |
— |
| RS2465533702 |
OTOF
|
Health Risk |
Pathogenic |
— |
| RS2465534201 |
HADHA
|
Health Risk |
Pathogenic |
Mitochondrial trifunctional protein deficiency, Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency |
| RS2465534236 |
HADHA
|
Health Risk |
Likely pathogenic |
Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency, Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency |
| RS2465534524 |
EIF2B4
|
Health Risk |
Likely pathogenic |
— |
| RS2465534557 |
HADHA
|
Health Risk |
Pathogenic |
Mitochondrial trifunctional protein deficiency, Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency |
| RS2465534615 |
HADHA
|
Health Risk |
Likely pathogenic |
Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency, Mitochondrial trifunctional protein deficiency |
| RS2465534617 |
HADHA
|
Health Risk |
Pathogenic |
Mitochondrial trifunctional protein deficiency, Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency |
| RS2465534647 |
HADHA
|
Health Risk |
Pathogenic |
Mitochondrial trifunctional protein deficiency, Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency |
| RS2465534656 |
HADHA
|
Health Risk |
Likely pathogenic |
Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency, Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency |
| RS2465535863 |
OTOF
|
Health Risk |
Pathogenic |
Autosomal recessive nonsyndromic hearing loss 9, Autosomal recessive nonsyndromic hearing loss 9 |
| RS2465537504 |
DNMT3A
|
Health Risk |
Pathogenic |
Tatton-Brown-Rahman overgrowth syndrome, Tatton-Brown-Rahman overgrowth syndrome |
| RS2465540556 |
OTOF
|
Health Risk |
Pathogenic |
Auditory neuropathy, Auditory neuropathy |
| RS2465540650 |
HADHA
|
Health Risk |
Likely pathogenic |
Mitochondrial trifunctional protein deficiency, Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency |
| RS2465540859 |
HADHA
|
Health Risk |
Pathogenic |
Mitochondrial trifunctional protein deficiency, Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency |
| RS2465540902 |
HADHA
|
Health Risk |
Likely pathogenic |
Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency, Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency |
| RS2465541119 |
HADHA
|
Health Risk |
Likely pathogenic |
Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency, Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency |
| RS2465541308 |
NRXN1
|
Health Risk |
Pathogenic |
Pitt-Hopkins-like syndrome 2, Pitt-Hopkins-like syndrome 2 |
| RS2465548498 |
DNMT3A
|
Health Risk |
Pathogenic |
— |
| RS2465548821 |
OTOF
|
Health Risk |
Likely pathogenic |
— |
| RS2465549875 |
OTOF
|
Health Risk |
Pathogenic |
— |
| RS2465550514 |
OTOF
|
Health Risk |
Likely pathogenic |
— |
| RS2465552438 |
HADHA
|
Health Risk |
Pathogenic |
Mitochondrial trifunctional protein deficiency, Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency |
| RS2465552540 |
HADHA
|
Health Risk |
Likely pathogenic |
Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency, Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency |
| RS2465556864 |
HADHA
|
Health Risk |
Likely pathogenic |
Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency, Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency |
| RS2465556878 |
HADHA
|
Health Risk |
Pathogenic |
Mitochondrial trifunctional protein deficiency, Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency |
| RS2465557045 |
HADHA
|
Health Risk |
Pathogenic |
Mitochondrial trifunctional protein deficiency, Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency |
| RS2465557288 |
DNMT3A
|
Health Risk |
Pathogenic |
Heyn-Sproul-Jackson syndrome, Heyn-Sproul-Jackson syndrome |
| RS2465557541 |
DNMT3A
|
Health Risk |
Pathogenic |
Tatton-Brown-Rahman overgrowth syndrome, Tatton-Brown-Rahman overgrowth syndrome |
| RS2465560282 |
HADHA
|
Health Risk |
Pathogenic |
Mitochondrial trifunctional protein deficiency, Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency |
| RS2465560313 |
HADHA
|
Health Risk |
Pathogenic |
Mitochondrial trifunctional protein deficiency, Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency |
| RS2465560325 |
HADHA
|
Health Risk |
Likely pathogenic |
Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency, Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency |
| RS2465560474 |
HADHA
|
Health Risk |
Pathogenic |
Mitochondrial trifunctional protein deficiency, Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency |
| RS2465560526 |
HADHA
|
Health Risk |
Likely pathogenic |
Mitochondrial trifunctional protein deficiency, Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency |
| RS2465561815 |
HADHA
|
Health Risk |
Likely pathogenic |
Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency, Mitochondrial trifunctional protein deficiency |
| RS2465562056 |
HADHA
|
Health Risk |
Likely pathogenic |
Mitochondrial trifunctional protein deficiency, Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency |
| RS2465563629 |
POMC
|
Health Risk |
Pathogenic |
Obesity due to pro-opiomelanocortin deficiency, Obesity due to pro-opiomelanocortin deficiency |
| RS2465563641 |
DNMT3A
|
Health Risk |
Pathogenic |
Tatton-Brown-Rahman overgrowth syndrome, Tatton-Brown-Rahman overgrowth syndrome |
| RS2465565099 |
OTOF
|
Health Risk |
Likely pathogenic |
Autosomal recessive nonsyndromic hearing loss 9, Autosomal recessive nonsyndromic hearing loss 9 |
| RS2465565754 |
OTOF
|
Health Risk |
Pathogenic |
Autosomal recessive nonsyndromic hearing loss 9, Autosomal recessive nonsyndromic hearing loss 9 |
| RS2465570025 |
OTOF
|
Health Risk |
Likely pathogenic |
— |
| RS2465573611 |
DNMT3A
|
Health Risk |
Pathogenic |
EBV-positive nodal T- and NK-cell lymphoma, EBV-positive nodal T- and NK-cell lymphoma |
| RS2465573825 |
OTOF
|
Health Risk |
Pathogenic |
— |
| RS2465574448 |
OTOF
|
Health Risk |
Pathogenic |
— |
| RS2465574657 |
MSH2
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2465576077 |
MSH2
|
Health Risk |
Pathogenic |
Lynch syndrome 1, Hereditary cancer-predisposing syndrome |
| RS2465576976 |
MSH2
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2465577422 |
MSH2
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2465577675 |
MSH2
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2465578845 |
OTOF
|
Health Risk |
Pathogenic |
— |
| RS2465579125 |
MSH2
|
Health Risk |
Conflicting classifications of pathogenicity |
Lynch syndrome 1, Hereditary nonpolyposis colorectal neoplasms |
| RS2465579162 |
MSH2
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2465579440 |
MSH2
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2465579548 |
MSH2
|
Health Risk |
Pathogenic |
Lynch syndrome 1, Lynch syndrome 1 |
| RS2465579693 |
MSH2
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |