| RS1564917788 |
SBF2
|
Health Risk |
Conflicting classifications of pathogenicity |
Tip-toe gait, Tip-toe gait |
| RS1564918287 |
TH
|
Health Risk |
Pathogenic |
Autosomal recessive DOPA responsive dystonia, Autosomal recessive DOPA responsive dystonia |
| RS1564918396 |
ANO5
|
Health Risk |
Likely pathogenic |
Autosomal recessive limb-girdle muscular dystrophy type 2L, Gnathodiaphyseal dysplasia |
| RS1564919048 |
FGFR2
|
Health Risk |
Pathogenic/Likely pathogenic |
FGFR2-related craniosynostosis, Crouzon syndrome |
| RS1564922516 |
ANO5
|
Health Risk |
Pathogenic |
— |
| RS1564923441 |
SBF2
|
Health Risk |
Pathogenic |
Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4 |
| RS1564923612 |
SMPD1
|
Health Risk |
Pathogenic/Likely pathogenic |
Niemann-Pick disease, type A |
| RS1564927062 |
EBF3
|
Health Risk |
Likely pathogenic |
Hypotonia, ataxia |
| RS1564927308 |
SMPD1
|
Health Risk |
Pathogenic |
— |
| RS1564928040 |
SMPD1
|
Health Risk |
Conflicting classifications of pathogenicity |
Niemann-Pick disease, type A |
| RS1564928644 |
CDKN1C
|
Health Risk |
Conflicting classifications of pathogenicity |
Beckwith-Wiedemann syndrome, Beckwith-Wiedemann syndrome |
| RS1564929426 |
CDKN1C
|
Health Risk |
Pathogenic |
Beckwith-Wiedemann syndrome, Beckwith-Wiedemann syndrome |
| RS1564929520 |
CDKN1C
|
Health Risk |
Pathogenic |
Beckwith-Wiedemann syndrome, Beckwith-Wiedemann syndrome |
| RS1564929584 |
CDKN1C
|
Health Risk |
Pathogenic |
Beckwith-Wiedemann syndrome, Beckwith-Wiedemann syndrome |
| RS1564929735 |
CDKN1C
|
Health Risk |
Likely pathogenic |
— |
| RS1564930265 |
CDKN1C
|
Health Risk |
Pathogenic |
Beckwith-Wiedemann syndrome, Beckwith-Wiedemann syndrome |
| RS1564930625 |
ANO5
|
Health Risk |
Pathogenic |
Autosomal recessive limb-girdle muscular dystrophy type 2L, Gnathodiaphyseal dysplasia |
| RS1564930723 |
CDKN1C
|
Health Risk |
Pathogenic |
Beckwith-Wiedemann syndrome, Beckwith-Wiedemann syndrome |
| RS1564932829 |
COL13A1
|
Health Risk |
Pathogenic/Likely pathogenic |
Congenital myasthenic syndrome 19, Congenital myasthenic syndrome 19 |
| RS1564936489 |
ANO5
|
Health Risk |
Pathogenic |
Autosomal recessive limb-girdle muscular dystrophy type 2L, Miyoshi muscular dystrophy 3 |
| RS1564941781 |
ANO5
|
Health Risk |
Conflicting classifications of pathogenicity |
Autosomal recessive limb-girdle muscular dystrophy type 2L, Gnathodiaphyseal dysplasia |
| RS1564944168 |
ANO5
|
Health Risk |
Conflicting classifications of pathogenicity |
Autosomal recessive limb-girdle muscular dystrophy type 2L, Gnathodiaphyseal dysplasia |
| RS1564949059 |
PCDH15
|
Health Risk |
Pathogenic/Likely pathogenic |
Autosomal recessive nonsyndromic hearing loss 23, Hearing loss |
| RS1564950387 |
DEAF1
|
Health Risk |
Likely pathogenic |
Autism spectrum disorder, Autism spectrum disorder |
| RS1564955779 |
ABCC8
|
Health Risk |
Conflicting classifications of pathogenicity |
Hyperinsulinemic hypoglycemia, familial |
| RS1564960443 |
PCDH15
|
Health Risk |
Pathogenic |
Usher syndrome type 1F, Usher syndrome type 1F |
| RS1564964065 |
ABCC8
|
Health Risk |
Pathogenic |
Hyperinsulinemic hypoglycemia, familial |
| RS1564967706 |
WT1
|
Health Risk |
Likely pathogenic |
— |
| RS1564969626 |
WT1
|
Health Risk |
Likely pathogenic |
Drash syndrome, Drash syndrome |
| RS1564972993 |
WT1
|
Health Risk |
Likely pathogenic |
Wilms tumor 1, Wilms tumor 1 |
| RS1564975924 |
WT1
|
Health Risk |
Conflicting classifications of pathogenicity |
Wilms tumor 1, 11p partial monosomy syndrome |
| RS1564976749 |
ABCC8
|
Health Risk |
Pathogenic/Likely pathogenic |
Familial hyperinsulinism, Hyperinsulinemic hypoglycemia |
| RS1564977373 |
ABCC8
|
Health Risk |
Pathogenic |
Familial hyperinsulinism, Hyperinsulinemic hypoglycemia |
| RS1564986609 |
EXT2
|
Health Risk |
Pathogenic |
Exostoses, multiple |
| RS1564989455 |
RAG1
|
Health Risk |
Pathogenic |
Severe combined immunodeficiency, autosomal recessive |
| RS1564989655 |
RAG1
|
Health Risk |
Likely pathogenic |
Combined immunodeficiency due to partial RAG1 deficiency, Combined immunodeficiency due to partial RAG1 deficiency |
| RS1564990390 |
RAG1
|
Health Risk |
Conflicting classifications of pathogenicity |
Severe combined immunodeficiency, autosomal recessive |
| RS1564991147 |
PITX3
|
Health Risk |
Likely pathogenic |
PITX3-related disorder, PITX3-related disorder |
| RS1564991256 |
PITX3
|
Health Risk |
Pathogenic |
Cataract 11, posterior polar |
| RS1564995465 |
RAG2
|
Health Risk |
Pathogenic |
Severe combined immunodeficiency, autosomal recessive |
| RS1564995611 |
RAG2
|
Health Risk |
Likely pathogenic |
Histiocytic medullary reticulosis, Recombinase activating gene 2 deficiency |
| RS1564995627 |
RAG2
|
Health Risk |
Likely pathogenic |
Histiocytic medullary reticulosis, Recombinase activating gene 2 deficiency |
| RS1564995660 |
RAG2
|
Health Risk |
Likely pathogenic |
Recombinase activating gene 2 deficiency, Inborn error of immunity |
| RS1564995662 |
RAG2
|
Health Risk |
Likely pathogenic |
Histiocytic medullary reticulosis, Recombinase activating gene 2 deficiency |
| RS1564997121 |
RAG2
|
Health Risk |
Likely pathogenic |
Histiocytic medullary reticulosis, Recombinase activating gene 2 deficiency |
| RS1564997563 |
RAG2
|
Health Risk |
Likely pathogenic |
Combined immunodeficiency with skin granulomas, Recombinase activating gene 2 deficiency |
| RS1565000973 |
WT1
|
Health Risk |
Pathogenic |
Wilms tumor 1, 11p partial monosomy syndrome |
| RS1565001383 |
WT1
|
Health Risk |
Pathogenic |
Drash syndrome, Drash syndrome |
| RS1565001804 |
WT1
|
Health Risk |
Conflicting classifications of pathogenicity |
Wilms tumor 1, 11p partial monosomy syndrome |
| RS1565017125 |
USH1C
|
Health Risk |
Likely pathogenic |
Autosomal recessive nonsyndromic hearing loss 18A, Autosomal recessive nonsyndromic hearing loss 18A |
| RS1565018468 |
CTSD
|
Health Risk |
Conflicting classifications of pathogenicity |
Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis |
| RS1565019928 |
NKX6-2
|
Health Risk |
Pathogenic/Likely pathogenic |
Spastic ataxia 8, autosomal recessive |
| RS1565019932 |
NKX6-2
|
Health Risk |
Pathogenic |
Spastic ataxia 8, autosomal recessive |
| RS1565019976 |
NKX6-2
|
Health Risk |
Likely pathogenic |
Spastic ataxia 8, autosomal recessive |
| RS1565023136 |
KCNQ1
|
Health Risk |
Pathogenic |
— |
| RS1565035177 |
SLC25A22
|
Health Risk |
Pathogenic |
Early myoclonic encephalopathy, Early myoclonic encephalopathy |
| RS1565036465 |
BEST1
|
Health Risk |
Pathogenic/Likely pathogenic |
Vitelliform macular dystrophy 2, Vitelliform macular dystrophy 2 |
| RS1565043296 |
PCDH15
|
Health Risk |
Conflicting classifications of pathogenicity |
— |
| RS1565047971 |
USH1C
|
Health Risk |
Pathogenic/Likely pathogenic |
Autosomal recessive nonsyndromic hearing loss 18A, Autosomal recessive nonsyndromic hearing loss 18A |
| RS1565050320 |
CSRP3
|
Health Risk |
Pathogenic |
Primary dilated cardiomyopathy, Primary dilated cardiomyopathy |
| RS1565050709 |
CSRP3
|
Health Risk |
Conflicting classifications of pathogenicity |
Cardiomyopathy, Dilated cardiomyopathy 1M |
| RS1565053085 |
CSRP3
|
Health Risk |
Likely pathogenic |
Primary dilated cardiomyopathy, Primary dilated cardiomyopathy |
| RS1565053147 |
CSRP3
|
Health Risk |
Likely pathogenic |
Primary dilated cardiomyopathy, Primary dilated cardiomyopathy |
| RS1565055497 |
FANCF
|
Health Risk |
Pathogenic/Likely pathogenic |
Fanconi anemia complementation group F, Fanconi anemia |
| RS1565058763 |
USH1C
|
Health Risk |
Likely pathogenic |
Autosomal recessive nonsyndromic hearing loss 18A, Autosomal recessive nonsyndromic hearing loss 18A |
| RS1565081217 |
PEX16
|
Health Risk |
Conflicting classifications of pathogenicity |
Peroxisome biogenesis disorder, Peroxisome biogenesis disorder |
| RS1565082984 |
PEX16
|
Health Risk |
Conflicting classifications of pathogenicity |
Peroxisome biogenesis disorder, Peroxisome biogenesis disorder |
| RS1565083843 |
LRP5
|
Health Risk |
Likely pathogenic |
Vitreoretinopathy, Retinal dystrophy |
| RS1565088283 |
TMEM216
|
Health Risk |
Pathogenic/Likely pathogenic |
Joubert syndrome, Joubert syndrome 2 |
| RS1565088616 |
GANAB
|
Health Risk |
Pathogenic/Likely pathogenic |
Autosomal dominant polycystic liver disease, Biliary tract abnormality |
| RS1565089992 |
PNPLA2
|
Health Risk |
Pathogenic |
Neutral lipid storage myopathy, Neutral lipid storage myopathy |
| RS1565091862 |
KCNMA1
|
Health Risk |
Likely pathogenic |
Generalized epilepsy-paroxysmal dyskinesia syndrome, Generalized epilepsy-paroxysmal dyskinesia syndrome |
| RS1565092365 |
LRP5
|
Health Risk |
Pathogenic |
— |
| RS1565092566 |
GANAB
|
Health Risk |
Likely pathogenic |
Autosomal dominant polycystic liver disease, Autosomal dominant polycystic liver disease |
| RS1565092899 |
GANAB
|
Health Risk |
Pathogenic |
Autosomal dominant polycystic liver disease, Autosomal dominant polycystic liver disease |
| RS1565093675 |
GANAB
|
Health Risk |
Likely pathogenic |
Autosomal dominant polycystic liver disease, Polycystic kidney disease 3 with or without polycystic liver disease |
| RS1565094961 |
LRP5
|
Health Risk |
Pathogenic |
— |
| RS1565099895 |
GANAB
|
Health Risk |
Pathogenic |
Autosomal dominant polycystic liver disease, Autosomal dominant polycystic liver disease |
| RS1565106242 |
SBF2
|
Health Risk |
Pathogenic/Likely pathogenic |
Charcot-Marie-Tooth disease type 4B2, Charcot-Marie-Tooth disease type 4 |
| RS1565111276 |
LRP5
|
Health Risk |
Pathogenic |
— |
| RS1565115957 |
SBF2
|
Health Risk |
Pathogenic |
Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4 |
| RS1565116526 |
OTOG
|
Health Risk |
Pathogenic |
— |
| RS1565116806 |
GANAB
|
Health Risk |
Likely pathogenic |
Autosomal dominant polycystic liver disease, Autosomal dominant polycystic liver disease |
| RS1565117343 |
OSBP
|
Health Risk |
Pathogenic |
Short stature, Short stature |
| RS1565118389 |
CD151
|
Health Risk |
Pathogenic |
Epidermolysis bullosa simplex 7, with nephropathy and deafness |
| RS1565127413 |
OTOG
|
Health Risk |
Pathogenic/Likely pathogenic |
Deafness, Hearing loss |
| RS1565129771 |
OTOG
|
Health Risk |
Likely pathogenic |
Autosomal recessive nonsyndromic hearing loss 18B, Autosomal recessive nonsyndromic hearing loss 18B |
| RS1565132917 |
ANO3
|
Health Risk |
Pathogenic |
Dystonia 24, Dystonia 24 |
| RS1565138763 |
PHF21A
|
Health Risk |
Pathogenic/Likely pathogenic |
Intellectual disability, Intellectual developmental disorder with behavioral abnormalities and craniofacial dysmorphism with or without seizures |
| RS1565142553 |
BSCL2
|
Health Risk |
Likely pathogenic |
Congenital generalized lipodystrophy type 2, Congenital generalized lipodystrophy type 2 |
| RS1565144681 |
BSCL2
|
Health Risk |
Pathogenic |
Congenital generalized lipodystrophy type 2, Congenital generalized lipodystrophy type 2 |
| RS1565150234 |
SBF2
|
Health Risk |
Pathogenic/Likely pathogenic |
— |
| RS1565150720 |
PACS1
|
Health Risk |
Conflicting classifications of pathogenicity |
Schuurs-Hoeijmakers syndrome, Schuurs-Hoeijmakers syndrome |
| RS1565152616 |
BSCL2
|
Health Risk |
Pathogenic |
Congenital generalized lipodystrophy type 2, Congenital generalized lipodystrophy type 2 |
| RS1565156743 |
TCIRG1
|
Health Risk |
Pathogenic/Likely pathogenic |
Autosomal recessive osteopetrosis 1, Autosomal recessive osteopetrosis 1 |
| RS1565162623 |
KCNC1
|
Health Risk |
Likely pathogenic |
Progressive myoclonic epilepsy type 7, Progressive myoclonic epilepsy type 7 |
| RS1565164499 |
TCIRG1
|
Health Risk |
Pathogenic/Likely pathogenic |
Autosomal recessive osteopetrosis 1, Autosomal recessive osteopetrosis 1 |
| RS1565165023 |
TCIRG1
|
Health Risk |
Likely pathogenic |
Autosomal recessive osteopetrosis 1, Autosomal recessive osteopetrosis 1 |
| RS1565168898 |
SERPING1
|
Health Risk |
Pathogenic |
Hereditary angioedema type 1, Hereditary angioedema type 1 |
| RS1565169419 |
SERPING1
|
Health Risk |
Pathogenic |
Hereditary angioedema type 1, Hereditary angioedema type 1 |