| RS1114167388 |
COL1A1
|
Health Risk |
Pathogenic |
Osteogenesis imperfecta type III, Osteogenesis imperfecta type III |
| RS1114167389 |
COL1A1
|
Health Risk |
Pathogenic |
Osteogenesis imperfecta type I, Osteogenesis imperfecta type I |
| RS1114167390 |
COL1A1
|
Health Risk |
Pathogenic |
Osteogenesis imperfecta type III, Osteogenesis imperfecta type I |
| RS1114167391 |
COL1A1
|
Health Risk |
Pathogenic |
Osteogenesis imperfecta type I, Osteogenesis imperfecta type I |
| RS1114167392 |
COL1A1
|
Health Risk |
Likely pathogenic |
Osteogenesis imperfecta type I, Osteogenesis imperfecta |
| RS1114167394 |
COL1A1
|
Health Risk |
Pathogenic |
Osteogenesis imperfecta type I, Osteogenesis imperfecta type I |
| RS1114167395 |
COL1A1
|
Health Risk |
Pathogenic |
Osteogenesis imperfecta type I, Osteogenesis imperfecta type I |
| RS1114167396 |
COL1A1
|
Health Risk |
Pathogenic |
Osteogenesis imperfecta type I, Osteogenesis imperfecta type I |
| RS1114167398 |
COL1A1
|
Health Risk |
Pathogenic |
Osteogenesis imperfecta type I, Osteogenesis imperfecta type I |
| RS1114167399 |
COL1A1
|
Health Risk |
Pathogenic |
Osteogenesis imperfecta type I, Osteogenesis imperfecta type I |
| RS1114167400 |
COL1A1
|
Health Risk |
Pathogenic |
Osteogenesis imperfecta type I, Osteogenesis imperfecta type I |
| RS1114167401 |
COL1A1
|
Health Risk |
Pathogenic |
Osteogenesis imperfecta type I, Osteogenesis imperfecta type I |
| RS1114167402 |
COL1A1
|
Health Risk |
Pathogenic/Likely pathogenic |
Osteogenesis imperfecta with normal sclerae, dominant form |
| RS1114167403 |
COL1A1
|
Health Risk |
Pathogenic |
Osteogenesis imperfecta with normal sclerae, dominant form |
| RS1114167405 |
COL1A1
|
Health Risk |
Pathogenic |
Osteogenesis imperfecta type I, Osteogenesis imperfecta type I |
| RS1114167406 |
COL1A1
|
Health Risk |
Pathogenic |
Osteogenesis imperfecta type I, Osteogenesis imperfecta type I |
| RS1114167407 |
COL1A1
|
Health Risk |
Pathogenic/Likely pathogenic |
Osteogenesis imperfecta type I, Osteogenesis imperfecta type I |
| RS1114167408 |
COL1A1
|
Health Risk |
Pathogenic/Likely pathogenic |
Osteogenesis imperfecta type I, Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 1 |
| RS1114167409 |
COL1A1
|
Health Risk |
Pathogenic |
Osteogenesis imperfecta type III, Osteogenesis imperfecta type III |
| RS1114167410 |
COL1A1
|
Health Risk |
Pathogenic |
Osteogenesis imperfecta type I, Osteogenesis imperfecta type I |
| RS1114167411 |
COL1A1
|
Health Risk |
Pathogenic |
Osteogenesis imperfecta type I, Osteogenesis imperfecta type I |
| RS1114167412 |
COL1A2
|
Health Risk |
Pathogenic |
Osteogenesis imperfecta type III, Osteogenesis imperfecta type III |
| RS1114167414 |
COL1A2
|
Health Risk |
Pathogenic |
Osteogenesis imperfecta type III, Osteogenesis imperfecta type III |
| RS1114167415 |
COL1A2
|
Health Risk |
Pathogenic |
Osteogenesis imperfecta type III, Osteogenesis imperfecta type III |
| RS1114167416 |
COL1A2
|
Health Risk |
Likely pathogenic |
Osteogenesis imperfecta type I, Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 2 |
| RS1114167417 |
COL1A2
|
Health Risk |
Pathogenic |
Osteogenesis imperfecta type I, Ehlers-Danlos syndrome |
| RS1114167418 |
COL1A2
|
Health Risk |
Pathogenic |
Osteogenesis imperfecta type I, Ehlers-Danlos syndrome |
| RS1114167419 |
MYBPC3
|
Health Risk |
Pathogenic |
Hypertrophic cardiomyopathy 4, Cardiovascular phenotype |
| RS1114167422 |
DKC1
|
Health Risk |
Likely pathogenic |
Dyskeratosis congenita, X-linked |
| RS1114167423 |
APTX
|
Health Risk |
Pathogenic |
Ataxia, early-onset |
| RS1114167424 |
SULT2B1
|
Health Risk |
Pathogenic |
Autosomal recessive congenital ichthyosis 1, Ichthyosis |
| RS1114167425 |
SULT2B1
|
Health Risk |
Pathogenic |
Autosomal recessive congenital ichthyosis 2, Ichthyosis |
| RS1114167426 |
SULT2B1
|
Health Risk |
Pathogenic |
Autosomal recessive congenital ichthyosis 2, Ichthyosis |
| RS1114167427 |
CRYBA4
|
Health Risk |
Pathogenic |
Cataract 23, Cataract 23 |
| RS1114167428 |
SLC2A2
|
Health Risk |
Pathogenic |
Fanconi-Bickel syndrome, Fanconi-Bickel syndrome |
| RS1114167429 |
PPP1CB
|
Health Risk |
Likely pathogenic |
Noonan syndrome-like disorder with loose anagen hair 2, RASopathy |
| RS1114167430 |
CD55
|
Health Risk |
Pathogenic |
Complement hyperactivation-angiopathic thrombosis-protein-losing enteropathy syndrome, Complement hyperactivation-angiopathic thrombosis-protein-losing enteropathy syndrome |
| RS1114167431 |
GNAO1
|
Health Risk |
Likely pathogenic |
Neurodevelopmental disorder with involuntary movements, Developmental and epileptic encephalopathy |
| RS1114167433 |
CRYBB1
|
Health Risk |
Pathogenic |
Cataract 17 multiple types, Cataract 17 multiple types |
| RS1114167435 |
MLH1
|
Health Risk |
Pathogenic |
Colon cancer, Hereditary nonpolyposis colorectal neoplasms |
| RS1114167437 |
DMD
|
Health Risk |
Likely pathogenic |
Elevated circulating creatine kinase concentration, Elevated circulating creatine kinase concentration |
| RS1114167438 |
ALPL
|
Health Risk |
Conflicting classifications of pathogenicity |
Decreased circulating alkaline phosphatase activity, Hypophosphatasia |
| RS1114167439 |
DMD
|
Health Risk |
Likely pathogenic |
Elevated circulating creatine kinase concentration, Elevated circulating creatine kinase concentration |
| RS1114167441 |
NONO
|
Health Risk |
Pathogenic |
Syndromic X-linked intellectual disability 34, Syndromic X-linked intellectual disability 34 |
| RS1114167442 |
PSMD12
|
Health Risk |
Pathogenic |
Stankiewicz-Isidor syndrome, Stankiewicz-Isidor syndrome |
| RS1114167443 |
PSMD12
|
Health Risk |
Pathogenic |
Stankiewicz-Isidor syndrome, Stankiewicz-Isidor syndrome |
| RS1114167444 |
PSMD12
|
Health Risk |
Pathogenic |
Stankiewicz-Isidor syndrome, Stankiewicz-Isidor syndrome |
| RS1114167445 |
SPTBN4
|
Health Risk |
Pathogenic |
Neurodevelopmental disorder with hypotonia, neuropathy |
| RS1114167447 |
ARMC9
|
Health Risk |
Conflicting classifications of pathogenicity |
ARMC9-related Joubert syndrome, Joubert syndrome |
| RS1114167448 |
ARMC9
|
Health Risk |
Pathogenic/Likely pathogenic |
ARMC9-related Joubert syndrome, Joubert syndrome 30 |
| RS1114167449 |
ARMC9
|
Health Risk |
Pathogenic/Likely pathogenic |
ARMC9-related Joubert syndrome, Joubert syndrome 30 |
| RS1114167450 |
KDSR
|
Health Risk |
Pathogenic |
Erythrokeratodermia variabilis et progressiva 4, Erythrokeratodermia variabilis et progressiva 4 |
| RS1114167451 |
KDSR
|
Health Risk |
Pathogenic |
Erythrokeratodermia variabilis et progressiva 4, Erythrokeratodermia variabilis et progressiva 4 |
| RS1114167452 |
KDSR
|
Health Risk |
Pathogenic |
Erythrokeratodermia variabilis et progressiva 4, Erythrokeratodermia variabilis et progressiva 4 |
| RS1114167453 |
PPP1R13L
|
Health Risk |
Pathogenic |
Cardio-cutaneous syndrome, Arrhythmogenic cardiomyopathy with variable ectodermal abnormalities |
| RS1114167454 |
ARHGEF2
|
Health Risk |
Pathogenic |
Neurodevelopmental disorder with midbrain and hindbrain malformations, Neurodevelopmental disorder with midbrain and hindbrain malformations |
| RS1114167455 |
SMOC1
|
Health Risk |
Pathogenic |
Microphthalmia with limb anomalies, Microphthalmia with limb anomalies |
| RS1114167456 |
APC
|
Health Risk |
Conflicting classifications of pathogenicity |
Colorectal cancer, susceptibility to |
| RS1114167457 |
PLAA
|
Health Risk |
Pathogenic |
Neurodevelopmental disorder with progressive microcephaly, spasticity |
| RS1114167459 |
TSC2
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Tuberous sclerosis 2 |
| RS1114167460 |
TSC2
|
Health Risk |
Likely pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS1114167461 |
TSC2
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS1114167462 |
TSC2
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Tuberous sclerosis 2 |
| RS1114167463 |
TSC2
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS1114167464 |
TSC2
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome, Tuberous sclerosis 2 |
| RS1114167465 |
TSC2
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS1114167466 |
TSC2
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Melanoma |
| RS1114167468 |
TSC2
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Tuberous sclerosis 2 |
| RS1114167469 |
MEN1
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome, Multiple endocrine neoplasia |
| RS1114167470 |
MEN1
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS1114167471 |
MEN1
|
Health Risk |
Likely pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS1114167472 |
MEN1
|
Health Risk |
Likely pathogenic |
Hereditary cancer-predisposing syndrome, Multiple endocrine neoplasia |
| RS1114167473 |
MEN1
|
Health Risk |
Likely pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS1114167476 |
MEN1
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS1114167477 |
MEN1
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS1114167478 |
MEN1
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS1114167480 |
MEN1
|
Health Risk |
Likely pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS1114167481 |
MEN1
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS1114167482 |
MEN1
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Multiple endocrine neoplasia |
| RS1114167483 |
MEN1
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Multiple endocrine neoplasia |
| RS1114167485 |
MEN1
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS1114167486 |
MEN1
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Multiple endocrine neoplasia |
| RS1114167488 |
MEN1
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome, Multiple endocrine neoplasia |
| RS1114167489 |
MEN1
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Multiple endocrine neoplasia |
| RS1114167490 |
MEN1
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS1114167491 |
MEN1
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Multiple endocrine neoplasia |
| RS1114167492 |
MEN1
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS1114167493 |
MEN1
|
Health Risk |
Likely pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS1114167494 |
MEN1
|
Health Risk |
Pathogenic/Likely pathogenic |
Hereditary cancer-predisposing syndrome, Multiple endocrine neoplasia |
| RS1114167495 |
MEN1
|
Health Risk |
Likely pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS1114167496 |
MEN1
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS1114167497 |
MEN1
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome, Multiple endocrine neoplasia |
| RS1114167498 |
MEN1
|
Health Risk |
Pathogenic/Likely pathogenic |
Hereditary cancer-predisposing syndrome, Multiple endocrine neoplasia |
| RS1114167499 |
MEN1
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Multiple endocrine neoplasia |
| RS1114167500 |
MEN1
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS1114167501 |
MEN1
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Multiple endocrine neoplasia |
| RS1114167502 |
MEN1
|
Health Risk |
Conflicting classifications of pathogenicity |
Multiple endocrine neoplasia, type 1 |
| RS1114167503 |
MEN1
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS1114167505 |
MEN1
|
Health Risk |
Likely pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS1114167506 |
MEN1
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |