| RS2150816737 |
TCOF1
|
Health Risk |
Pathogenic |
Treacher Collins syndrome 1, Treacher Collins syndrome 1 |
| RS2150820128 |
TCOF1
|
Health Risk |
Pathogenic |
Treacher Collins syndrome 1, Treacher Collins syndrome 1 |
| RS2150822504 |
FGFR1
|
Health Risk |
Likely pathogenic |
7 conditions, 7 conditions |
| RS2150825999 |
FGFR1
|
Health Risk |
Pathogenic/Likely pathogenic |
Hypogonadotropic hypogonadism 2 with or without anosmia, Pfeiffer syndrome |
| RS2150826896 |
FGFR1
|
Health Risk |
Pathogenic/Likely pathogenic |
Hypogonadotropic hypogonadism 2 with or without anosmia, Hypogonadotropic hypogonadism 2 with or without anosmia |
| RS2150827249 |
TPK1
|
Health Risk |
Likely pathogenic |
Childhood encephalopathy due to thiamine pyrophosphokinase deficiency, Childhood encephalopathy due to thiamine pyrophosphokinase deficiency |
| RS2150829457 |
TPK1
|
Health Risk |
Pathogenic |
Childhood encephalopathy due to thiamine pyrophosphokinase deficiency, Childhood encephalopathy due to thiamine pyrophosphokinase deficiency |
| RS2150836777 |
CHRNB1
|
Health Risk |
Likely pathogenic |
— |
| RS2150838273 |
CHRNB1
|
Health Risk |
Likely pathogenic |
— |
| RS2150838396 |
CHRNB1
|
Health Risk |
Likely pathogenic |
— |
| RS2150839428 |
CHRNB1
|
Health Risk |
Pathogenic |
Congenital myasthenic syndrome 2A, Congenital myasthenic syndrome 2A |
| RS2150842362 |
CHRNB1
|
Health Risk |
Likely pathogenic |
Congenital myasthenic syndrome 2A, Congenital myasthenic syndrome 2A |
| RS2150854704 |
KAT6A
|
Health Risk |
Likely pathogenic |
Neurodevelopmental disorder, Neurodevelopmental disorder |
| RS2150855326 |
KAT6A
|
Health Risk |
Likely pathogenic |
Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome, Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome |
| RS2150855722 |
KAT6A
|
Health Risk |
Likely pathogenic |
Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome, Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome |
| RS2150856163 |
KAT6A
|
Health Risk |
Pathogenic |
Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome, Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome |
| RS2150856278 |
KAT6A
|
Health Risk |
Pathogenic |
— |
| RS2150856458 |
KAT6A
|
Health Risk |
Likely pathogenic |
— |
| RS2150856658 |
KAT6A
|
Health Risk |
Likely pathogenic |
Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome, Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome |
| RS2150857240 |
FGFR1
|
Health Risk |
Likely pathogenic |
Pfeiffer syndrome, Hypogonadotropic hypogonadism 2 with or without anosmia |
| RS2150858815 |
KAT6A
|
Health Risk |
Pathogenic |
— |
| RS2150859323 |
FGFR1
|
Health Risk |
Likely pathogenic |
Hypogonadotropic hypogonadism 2 with or without anosmia, Hypogonadotropic hypogonadism 2 with or without anosmia |
| RS2150859908 |
FGFR1
|
Health Risk |
Pathogenic/Likely pathogenic |
Hypogonadotropic hypogonadism 2 with or without anosmia, 7 conditions |
| RS2150861462 |
RPL3L
|
Health Risk |
Pathogenic |
Cardiomyopathy, dilated |
| RS2150861625 |
KAT6A
|
Health Risk |
Likely pathogenic |
Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome, Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome |
| RS2150862151 |
FGFR1
|
Health Risk |
Likely pathogenic |
Hypogonadotropic hypogonadism 2 with or without anosmia, Hypogonadotropic hypogonadism 2 with or without anosmia |
| RS2150863079 |
FGFR1
|
Health Risk |
Likely pathogenic |
Hypogonadotropic hypogonadism 2 with or without anosmia, Hypogonadotropic hypogonadism |
| RS2150866757 |
FGFR1
|
Health Risk |
Likely pathogenic |
Hypogonadotropic hypogonadism 2 with or without anosmia, Pfeiffer syndrome |
| RS2150867081 |
CPLANE1
|
Health Risk |
Likely pathogenic |
— |
| RS2150867576 |
KAT6A
|
Health Risk |
Likely pathogenic |
— |
| RS2150869096 |
CPLANE1
|
Health Risk |
Pathogenic |
— |
| RS2150870227 |
CPLANE1
|
Health Risk |
Pathogenic |
Joubert syndrome 17, Orofaciodigital syndrome type 6 |
| RS2150871384 |
KAT6A
|
Health Risk |
Pathogenic |
Global developmental delay, Neurodevelopmental disorder |
| RS2150877933 |
COL4A4
|
Health Risk |
Likely pathogenic |
Benign familial hematuria, Benign familial hematuria |
| RS2150881295 |
POLR2A
|
Health Risk |
Likely pathogenic |
Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities, Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities |
| RS2150882831 |
POLR2A
|
Health Risk |
Conflicting classifications of pathogenicity |
Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities, Inborn genetic diseases |
| RS2150884950 |
KAT6A
|
Health Risk |
Pathogenic |
Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome, Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome |
| RS2150885915 |
FANCE
|
Health Risk |
Pathogenic/Likely pathogenic |
Fanconi anemia complementation group E, Fanconi anemia complementation group E |
| RS2150886359 |
KAT6A
|
Health Risk |
Pathogenic |
Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome, Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome |
| RS2150886504 |
KAT6A
|
Health Risk |
Pathogenic |
Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome, Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome |
| RS2150886525 |
KAT6A
|
Health Risk |
Pathogenic |
Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome, Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome |
| RS2150887186 |
POLR2A
|
Health Risk |
Likely pathogenic |
Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities, Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities |
| RS2150887735 |
POLR2A
|
Health Risk |
Likely pathogenic |
— |
| RS2150888913 |
CTNS
|
Health Risk |
Pathogenic/Likely pathogenic |
Ocular cystinosis, Juvenile nephropathic cystinosis |
| RS2150889009 |
CTNS
|
Health Risk |
Pathogenic/Likely pathogenic |
Inborn genetic diseases, Ocular cystinosis |
| RS2150889955 |
FANCE
|
Health Risk |
Likely pathogenic |
Fanconi anemia complementation group E, Fanconi anemia complementation group E |
| RS2150894118 |
ARPC1B
|
Health Risk |
Likely pathogenic |
— |
| RS2150895088 |
FANCE
|
Health Risk |
Likely pathogenic |
Fanconi anemia complementation group E, Thyroid cancer |
| RS2150895090 |
FANCE
|
Health Risk |
Likely pathogenic |
Fanconi anemia complementation group E, Fanconi anemia complementation group E |
| RS2150895254 |
KIAA0753
|
Health Risk |
Pathogenic |
Joubert syndrome 38, Joubert syndrome 38 |
| RS2150896309 |
FANCE
|
Health Risk |
Pathogenic |
Fanconi anemia complementation group E, Fanconi anemia complementation group E |
| RS2150896659 |
FANCE
|
Health Risk |
Pathogenic |
Fanconi anemia complementation group E, Fanconi anemia complementation group E |
| RS2150897607 |
CYLD
|
Health Risk |
Likely pathogenic |
— |
| RS2150897800 |
CPLANE1
|
Health Risk |
Pathogenic |
— |
| RS2150898479 |
FANCE
|
Health Risk |
Pathogenic |
Fanconi anemia complementation group E, Fanconi anemia complementation group E |
| RS2150904623 |
CTNS
|
Health Risk |
Pathogenic |
Inborn genetic diseases, Ocular cystinosis |
| RS2150904759 |
CTNS
|
Health Risk |
Pathogenic |
Inborn genetic diseases, Ocular cystinosis |
| RS2150906974 |
CTNS
|
Health Risk |
Pathogenic |
Ocular cystinosis, Inborn genetic diseases |
| RS2150911849 |
FGFR1
|
Health Risk |
Pathogenic |
Hypogonadotropic hypogonadism 2 with or without anosmia, Hypogonadotropic hypogonadism 2 with or without anosmia |
| RS2150914115 |
MARVELD2
|
Health Risk |
Pathogenic |
Autosomal recessive nonsyndromic hearing loss 49, Autosomal recessive nonsyndromic hearing loss 49 |
| RS2150914598 |
FGFR1
|
Health Risk |
Likely pathogenic |
Hypogonadotropic hypogonadism 2 with or without anosmia, Pfeiffer syndrome |
| RS2150915254 |
MARVELD2
|
Health Risk |
Pathogenic |
Autosomal recessive nonsyndromic hearing loss 49, Autosomal recessive nonsyndromic hearing loss 49 |
| RS2150915422 |
MARVELD2
|
Health Risk |
Likely pathogenic |
Autosomal recessive nonsyndromic hearing loss 49, Autosomal recessive nonsyndromic hearing loss 49 |
| RS2150918170 |
NEB
|
Health Risk |
Pathogenic |
Nemaline myopathy 2, Nemaline myopathy 2 |
| RS2150919035 |
CTNS
|
Health Risk |
Pathogenic |
Inborn genetic diseases, Ocular cystinosis |
| RS2150920571 |
FGFR1
|
Health Risk |
Likely pathogenic |
Pfeiffer syndrome, Pfeiffer syndrome |
| RS2150920643 |
FGFR1
|
Health Risk |
Conflicting classifications of pathogenicity |
Hypogonadotropic hypogonadism 2 with or without anosmia, Pfeiffer syndrome |
| RS2150921548 |
TULP1
|
Health Risk |
Pathogenic |
Leber congenital amaurosis 15, Leber congenital amaurosis 15 |
| RS2150921584 |
TULP1
|
Health Risk |
Likely pathogenic |
Retinitis pigmentosa 14, Retinitis pigmentosa 14 |
| RS2150921635 |
TULP1
|
Health Risk |
Pathogenic |
— |
| RS2150922730 |
CTNS
|
Health Risk |
Pathogenic |
Ocular cystinosis, Juvenile nephropathic cystinosis |
| RS2150922764 |
CTNS
|
Health Risk |
Likely pathogenic |
Ocular cystinosis, Juvenile nephropathic cystinosis |
| RS2150923282 |
CTNS
|
Health Risk |
Pathogenic |
Nephropathic cystinosis, Nephropathic cystinosis |
| RS2150924260 |
TULP1
|
Health Risk |
Pathogenic |
— |
| RS2150924300 |
TULP1
|
Health Risk |
Conflicting classifications of pathogenicity |
Retinitis pigmentosa, Retinitis pigmentosa 14 |
| RS2150925108 |
CTNS
|
Health Risk |
Pathogenic |
Ocular cystinosis, Inborn genetic diseases |
| RS2150925336 |
CTNS
|
Health Risk |
Likely pathogenic |
Inborn genetic diseases, Ocular cystinosis |
| RS2150925392 |
TULP1
|
Health Risk |
Pathogenic |
Leber congenital amaurosis 15, Retinal dystrophy |
| RS2150925451 |
CTNS
|
Health Risk |
Pathogenic/Likely pathogenic |
Inborn genetic diseases, Ocular cystinosis |
| RS2150925483 |
CTNS
|
Health Risk |
Likely pathogenic |
Inborn genetic diseases, Ocular cystinosis |
| RS2150925640 |
TULP1
|
Health Risk |
Pathogenic |
Retinitis pigmentosa 14, Retinitis pigmentosa 14 |
| RS2150926986 |
TULP1
|
Health Risk |
Pathogenic |
Leber congenital amaurosis 15, Leber congenital amaurosis |
| RS2150927060 |
TULP1
|
Health Risk |
Pathogenic |
— |
| RS2150927932 |
TULP1
|
Health Risk |
Pathogenic |
Retinitis pigmentosa, Retinitis pigmentosa |
| RS2150928372 |
TULP1
|
Health Risk |
Pathogenic |
— |
| RS2150928409 |
TULP1
|
Health Risk |
Pathogenic |
— |
| RS2150929104 |
TULP1
|
Health Risk |
Likely pathogenic |
— |
| RS2150932899 |
CPLANE1
|
Health Risk |
Pathogenic |
Joubert syndrome 17, Joubert syndrome 17 |
| RS2150933483 |
MPDU1
|
Health Risk |
Likely pathogenic |
MPDU1-congenital disorder of glycosylation, MPDU1-congenital disorder of glycosylation |
| RS2150937849 |
NTHL1
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2150937988 |
NTHL1
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 3 |
| RS2150937989 |
NTHL1
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2150937995 |
NTHL1
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2150938327 |
NTHL1
|
Health Risk |
Pathogenic/Likely pathogenic |
Familial adenomatous polyposis 3, Familial adenomatous polyposis 3 |
| RS2150938370 |
NTHL1
|
Health Risk |
Pathogenic |
— |
| RS2150938411 |
NTHL1
|
Health Risk |
Pathogenic/Likely pathogenic |
Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 3 |
| RS2150938444 |
RPGRIP1L
|
Health Risk |
Pathogenic |
Joubert syndrome, Meckel-Gruber syndrome |
| RS2150938461 |
NTHL1
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2150940890 |
CPLANE1
|
Health Risk |
Pathogenic |
— |
| RS2150941243 |
NTHL1
|
Health Risk |
Pathogenic/Likely pathogenic |
Familial adenomatous polyposis 3, Familial adenomatous polyposis 3 |