| RS1553998254 |
SDHA
|
Health Risk |
Pathogenic/Likely pathogenic |
Pheochromocytoma/paraganglioma syndrome 5, Mitochondrial complex II deficiency |
| RS1553998565 |
NAA15
|
Health Risk |
Pathogenic |
Intellectual disability, autosomal dominant 50 |
| RS1553998602 |
LRBA
|
Health Risk |
Pathogenic |
— |
| RS1553998606 |
SDHA
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Mitochondrial complex II deficiency |
| RS1553998613 |
SDHA
|
Health Risk |
Pathogenic/Likely pathogenic |
Pheochromocytoma/paraganglioma syndrome 5, Mitochondrial complex II deficiency |
| RS1553999041 |
SDHA
|
Health Risk |
Conflicting classifications of pathogenicity |
Pheochromocytoma/paraganglioma syndrome 5, Pheochromocytoma/paraganglioma syndrome 5 |
| RS1553999072 |
SDHA
|
Health Risk |
Likely pathogenic |
Mitochondrial complex II deficiency, nuclear type 1 |
| RS1553999078 |
SDHA
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome, Mitochondrial complex II deficiency |
| RS1553999701 |
SDHA
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome, Mitochondrial complex II deficiency |
| RS1553999705 |
SDHA
|
Health Risk |
Conflicting classifications of pathogenicity |
Mitochondrial complex II deficiency, nuclear type 1 |
| RS1553999752 |
SDHA
|
Health Risk |
Conflicting classifications of pathogenicity |
Mitochondrial complex II deficiency, nuclear type 1 |
| RS1553999766 |
SDHA
|
Health Risk |
Conflicting classifications of pathogenicity |
Mitochondrial complex II deficiency, nuclear type 1 |
| RS1553999955 |
TTN
|
Health Risk |
Likely pathogenic |
Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J |
| RS1553999983 |
TTN
|
Health Risk |
Likely pathogenic |
Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J |
| RS1554000360 |
SDHA
|
Health Risk |
Pathogenic/Likely pathogenic |
Mitochondrial complex II deficiency, nuclear type 1 |
| RS1554000378 |
SDHA
|
Health Risk |
Pathogenic |
Mitochondrial complex II deficiency, nuclear type 1 |
| RS1554001843 |
SDHA
|
Health Risk |
Pathogenic/Likely pathogenic |
Mitochondrial complex II deficiency, nuclear type 1 |
| RS1554001958 |
SDHA
|
Health Risk |
Likely pathogenic |
Mitochondrial complex II deficiency, nuclear type 1 |
| RS1554002451 |
SDHA
|
Health Risk |
Likely pathogenic |
Hereditary cancer-predisposing syndrome, Dilated cardiomyopathy 1GG |
| RS1554002483 |
SDHA
|
Health Risk |
Conflicting classifications of pathogenicity |
Pheochromocytoma/paraganglioma syndrome 5, Mitochondrial complex II deficiency |
| RS1554002492 |
SDHA
|
Health Risk |
Conflicting classifications of pathogenicity |
Mitochondrial complex II deficiency, nuclear type 1 |
| RS1554004920 |
UCHL1
|
Health Risk |
Likely pathogenic |
— |
| RS1554004931 |
UCHL1
|
Health Risk |
Likely pathogenic |
Early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome, Early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome |
| RS1554006017 |
MTRR
|
Health Risk |
Pathogenic |
Methylcobalamin deficiency type cblE, Methylcobalamin deficiency type cblE |
| RS1554006249 |
TTN
|
Health Risk |
Likely pathogenic |
Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J |
| RS1554007001 |
TTN
|
Health Risk |
Conflicting classifications of pathogenicity |
Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G |
| RS1554007128 |
TTN
|
Health Risk |
Conflicting classifications of pathogenicity |
Cardiovascular phenotype, Cardiovascular phenotype |
| RS1554007706 |
TRAPPC11
|
Health Risk |
Likely pathogenic |
Autosomal recessive limb-girdle muscular dystrophy type R18, Autosomal recessive limb-girdle muscular dystrophy type R18 |
| RS1554008611 |
CTNND2
|
Health Risk |
Likely pathogenic |
Inborn genetic diseases, Inborn genetic diseases |
| RS1554008865 |
TRAPPC11
|
Health Risk |
Likely pathogenic |
— |
| RS1554008866 |
TRAPPC11
|
Health Risk |
Likely pathogenic |
— |
| RS1554008881 |
TTN
|
Health Risk |
Conflicting classifications of pathogenicity |
Left ventricular noncompaction cardiomyopathy, Cardiovascular phenotype |
| RS1554009454 |
TTN
|
Health Risk |
Pathogenic |
Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J |
| RS1554009901 |
TRAPPC11
|
Health Risk |
Pathogenic |
Autosomal recessive limb-girdle muscular dystrophy type R18, Autosomal recessive limb-girdle muscular dystrophy type R18 |
| RS1554011042 |
NIPBL
|
Health Risk |
Pathogenic |
Cornelia de Lange syndrome 1, Cornelia de Lange syndrome 1 |
| RS1554011046 |
NIPBL
|
Health Risk |
Pathogenic |
Cornelia de Lange syndrome 1, Cornelia de Lange syndrome 1 |
| RS1554011296 |
LARP7
|
Health Risk |
Pathogenic |
Microcephalic primordial dwarfism, Alazami type |
| RS1554011503 |
LARP7
|
Health Risk |
Pathogenic |
— |
| RS1554011529 |
LARP7
|
Health Risk |
Likely pathogenic |
— |
| RS1554011604 |
TTN
|
Health Risk |
Conflicting classifications of pathogenicity |
Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J |
| RS1554011657 |
TTN
|
Health Risk |
Conflicting classifications of pathogenicity |
Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J |
| RS1554011754 |
LARP7
|
Health Risk |
Pathogenic |
Microcephalic primordial dwarfism, Alazami type |
| RS1554011775 |
LARP7
|
Health Risk |
Pathogenic |
— |
| RS1554013625 |
LARP7
|
Health Risk |
Likely pathogenic |
— |
| RS1554014382 |
NIPBL
|
Health Risk |
Likely pathogenic |
Cornelia de Lange syndrome 1, Cornelia de Lange syndrome 1 |
| RS1554015145 |
NIPBL
|
Health Risk |
Pathogenic |
Cornelia de Lange syndrome 1, Cornelia de Lange syndrome 1 |
| RS1554015228 |
TTN
|
Health Risk |
Likely pathogenic |
Early-onset myopathy with fatal cardiomyopathy, Early-onset myopathy with fatal cardiomyopathy |
| RS1554015303 |
NIPBL
|
Health Risk |
Likely pathogenic |
Inborn genetic diseases, Cornelia de Lange syndrome 1 |
| RS1554016981 |
NIPBL
|
Health Risk |
Pathogenic |
Cornelia de Lange syndrome 1, Cornelia de Lange syndrome 1 |
| RS1554017175 |
NIPBL
|
Health Risk |
Pathogenic |
Cornelia de Lange syndrome 1, Cornelia de Lange syndrome 1 |
| RS1554017211 |
DNAH5
|
Health Risk |
Pathogenic |
Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS1554017345 |
NIPBL
|
Health Risk |
Pathogenic |
Cornelia de Lange syndrome 1, Cornelia de Lange syndrome 1 |
| RS1554017428 |
NIPBL
|
Health Risk |
Conflicting classifications of pathogenicity |
Cornelia de Lange syndrome 1, Inborn genetic diseases |
| RS1554017441 |
NIPBL
|
Health Risk |
Pathogenic |
Cornelia de Lange syndrome 1, Cornelia de Lange syndrome 1 |
| RS1554017661 |
NIPBL
|
Health Risk |
Pathogenic |
Cornelia de Lange syndrome 1, Cornelia de Lange syndrome 1 |
| RS1554019663 |
NIPBL
|
Health Risk |
Likely pathogenic |
Cornelia de Lange syndrome 1, Cornelia de Lange syndrome 1 |
| RS1554019667 |
NIPBL
|
Health Risk |
Pathogenic |
Cornelia de Lange syndrome 1, Cornelia de Lange syndrome 1 |
| RS1554019698 |
NIPBL
|
Health Risk |
Pathogenic |
Cornelia de Lange syndrome 1, Cornelia de Lange syndrome 1 |
| RS1554019712 |
NIPBL
|
Health Risk |
Pathogenic/Likely pathogenic |
Cornelia de Lange syndrome 1, Neurodevelopmental delay |
| RS1554019951 |
TTN
|
Health Risk |
Conflicting classifications of pathogenicity |
Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J |
| RS1554019966 |
CCNO
|
Health Risk |
Likely pathogenic |
Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS1554020233 |
DNAH5
|
Health Risk |
Pathogenic |
Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS1554020278 |
LRBA
|
Health Risk |
Pathogenic |
Combined immunodeficiency due to LRBA deficiency, Combined immunodeficiency due to LRBA deficiency |
| RS1554020563 |
NEK1
|
Health Risk |
Pathogenic |
— |
| RS1554020579 |
NIPBL
|
Health Risk |
Likely pathogenic |
Cornelia de Lange syndrome 1, Cornelia de Lange syndrome 1 |
| RS1554020702 |
LIFR
|
Health Risk |
Pathogenic/Likely pathogenic |
Stuve-Wiedemann syndrome, Stuve-Wiedemann syndrome |
| RS1554020997 |
NIPBL
|
Health Risk |
Pathogenic |
Cornelia de Lange syndrome 1, Cornelia de Lange syndrome 1 |
| RS1554022000 |
NIPBL
|
Health Risk |
Likely pathogenic |
— |
| RS1554022466 |
NIPBL
|
Health Risk |
Pathogenic |
— |
| RS1554022725 |
UFSP2
|
Health Risk |
Pathogenic |
Spondyloepimetaphyseal dysplasia, di rocco type |
| RS1554023044 |
TTN
|
Health Risk |
Likely pathogenic |
Cardiovascular phenotype, Dilated cardiomyopathy 1G |
| RS1554023967 |
NIPBL
|
Health Risk |
Pathogenic |
Cornelia de Lange syndrome 1, Cornelia de Lange syndrome 1 |
| RS1554024009 |
NIPBL
|
Health Risk |
Pathogenic |
Inborn genetic diseases, Inborn genetic diseases |
| RS1554025252 |
NIPBL
|
Health Risk |
Pathogenic |
Cornelia de Lange syndrome 1, Cornelia de Lange syndrome 1 |
| RS1554025656 |
BLTP1
|
Health Risk |
Pathogenic |
Alkuraya-Kucinskas syndrome, Alkuraya-Kucinskas syndrome |
| RS1554025675 |
NIPBL
|
Health Risk |
Likely pathogenic |
Cornelia de Lange syndrome 1, Cornelia de Lange syndrome 1 |
| RS1554025780 |
NIPBL
|
Health Risk |
Pathogenic |
Cornelia de Lange syndrome 1, Cornelia de Lange syndrome 1 |
| RS1554025796 |
NIPBL
|
Health Risk |
Pathogenic |
Cornelia de Lange syndrome 1, Cornelia de Lange syndrome 1 |
| RS1554027083 |
NIPBL
|
Health Risk |
Pathogenic |
— |
| RS1554028123 |
MOCS2
|
Health Risk |
Likely pathogenic |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B, Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B |
| RS1554028127 |
MOCS2
|
Health Risk |
Conflicting classifications of pathogenicity |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B, Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B |
| RS1554030233 |
NIPBL
|
Health Risk |
Likely pathogenic |
Cornelia de Lange syndrome 1, Cornelia de Lange syndrome 1 |
| RS1554030285 |
NIPBL
|
Health Risk |
Pathogenic |
Cornelia de Lange syndrome 1, Cornelia de Lange syndrome 1 |
| RS1554031483 |
ETFDH
|
Health Risk |
Likely pathogenic |
— |
| RS1554031490 |
ETFDH
|
Health Risk |
Likely pathogenic |
— |
| RS1554031705 |
ETFDH
|
Health Risk |
Conflicting classifications of pathogenicity |
Multiple acyl-CoA dehydrogenase deficiency, Glutaric acidemia type 2C |
| RS1554031864 |
NIPBL
|
Health Risk |
Pathogenic |
Cornelia de Lange syndrome 1, Cornelia de Lange syndrome 1 |
| RS1554032085 |
NIPBL
|
Health Risk |
Pathogenic |
Cornelia de Lange syndrome 1, Cornelia de Lange syndrome 1 |
| RS1554032090 |
ARSB
|
Health Risk |
Likely pathogenic |
Mucopolysaccharidosis type 6, Mucopolysaccharidosis type 6 |
| RS1554032094 |
ARSB
|
Health Risk |
Pathogenic |
Mucopolysaccharidosis type 6, Mucopolysaccharidosis type 6 |
| RS1554032095 |
ARSB
|
Health Risk |
Conflicting classifications of pathogenicity |
Mucopolysaccharidosis type 6, Mucopolysaccharidosis type 6 |
| RS1554032099 |
ARSB
|
Health Risk |
Likely pathogenic |
Mucopolysaccharidosis type 6, Mucopolysaccharidosis type 6 |
| RS1554032110 |
ARSB
|
Health Risk |
Pathogenic |
Mucopolysaccharidosis type 6, Mucopolysaccharidosis type 6 |
| RS1554032118 |
ARSB
|
Health Risk |
Likely pathogenic |
Mucopolysaccharidosis type 6, Mucopolysaccharidosis type 6 |
| RS1554032122 |
ARSB
|
Health Risk |
Pathogenic |
Mucopolysaccharidosis type 6, Mucopolysaccharidosis type 6 |
| RS1554032129 |
ARSB
|
Health Risk |
Pathogenic/Likely pathogenic |
Mucopolysaccharidosis type 6, Mucopolysaccharidosis type 6 |
| RS1554032131 |
ARSB
|
Health Risk |
Likely pathogenic |
Mucopolysaccharidosis type 6, Mucopolysaccharidosis type 6 |
| RS1554032134 |
ARSB
|
Health Risk |
Pathogenic/Likely pathogenic |
Mucopolysaccharidosis type 6, Mucopolysaccharidosis type 6 |
| RS1554032145 |
ARSB
|
Health Risk |
Likely pathogenic |
Mucopolysaccharidosis type 6, Mucopolysaccharidosis type 6 |
| RS1554032153 |
ARSB
|
Health Risk |
Likely pathogenic |
Mucopolysaccharidosis type 6, Mucopolysaccharidosis type 6 |