| RS587777605 |
MID2
|
Health Risk |
Pathogenic/Likely pathogenic |
Intellectual disability, X-linked 101 |
| RS587777606 |
BSCL2
|
Health Risk |
Pathogenic |
Severe neurodegenerative syndrome with lipodystrophy, Congenital generalized lipodystrophy type 2 |
| RS587777607 |
BSCL2
|
Health Risk |
Conflicting classifications of pathogenicity |
Severe neurodegenerative syndrome with lipodystrophy, Berardinelli-Seip congenital lipodystrophy |
| RS587777608 |
BSCL2
|
Health Risk |
Pathogenic |
Congenital generalized lipodystrophy type 2, Severe neurodegenerative syndrome with lipodystrophy |
| RS587777609 |
STING1
|
Health Risk |
Pathogenic |
STING-associated vasculopathy with onset in infancy, STING-associated vasculopathy with onset in infancy |
| RS587777610 |
STING1
|
Health Risk |
Pathogenic |
STING-associated vasculopathy with onset in infancy, STING-associated vasculopathy with onset in infancy |
| RS587777611 |
STING1
|
Health Risk |
Pathogenic |
STING-associated vasculopathy with onset in infancy, STING-associated vasculopathy with onset in infancy |
| RS587777612 |
SH2D1A
|
Health Risk |
Pathogenic |
X-linked lymphoproliferative disease due to SH2D1A deficiency, X-linked lymphoproliferative disease due to SH2D1A deficiency |
| RS587777613 |
LZTR1
|
Health Risk |
Pathogenic |
LZTR1-related schwannomatosis, Noonan syndrome 10 |
| RS587777614 |
DNA2
|
Health Risk |
Pathogenic/Likely pathogenic |
Seckel syndrome 8, Ateleiotic dwarfism |
| RS587777615 |
PNPLA6
|
Health Risk |
Pathogenic |
Ataxia-hypogonadism-choroidal dystrophy syndrome, Ataxia-hypogonadism-choroidal dystrophy syndrome |
| RS587777616 |
CLP1
|
Health Risk |
Pathogenic/Likely pathogenic |
Pontocerebellar hypoplasia type 10, Pontoneocerebellar hypoplasia |
| RS587777617 |
TGFB3
|
Health Risk |
Pathogenic |
Rienhoff syndrome, Rienhoff syndrome |
| RS587777618 |
CCND2
|
Health Risk |
Pathogenic/Likely pathogenic |
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3, Inborn genetic diseases |
| RS587777619 |
CCND2
|
Health Risk |
Pathogenic |
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3, Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3 |
| RS587777620 |
CCND2
|
Health Risk |
Pathogenic/Likely pathogenic |
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3, Seizure |
| RS587777621 |
CCND2
|
Health Risk |
Pathogenic |
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3, Inborn genetic diseases |
| RS587777622 |
CCND2
|
Health Risk |
Pathogenic |
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3, CCND2-related disorder |
| RS587777623 |
DEAF1
|
Health Risk |
Pathogenic/Likely pathogenic |
Intellectual disability-epilepsy-extrapyramidal syndrome, Inborn genetic diseases |
| RS587777624 |
PIK3R2
|
Health Risk |
Pathogenic |
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1, Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 |
| RS587777625 |
SLC39A5
|
Health Risk |
Pathogenic |
Myopia 24, autosomal dominant |
| RS587777626 |
LMF1
|
Health Risk |
Pathogenic |
Lipase deficiency, combined |
| RS587777627 |
POLD1
|
Health Risk |
Pathogenic/Likely pathogenic |
Colorectal cancer, susceptibility to |
| RS587777628 |
STAT1
|
Health Risk |
Pathogenic |
Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome, Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome |
| RS587777629 |
STAT1
|
Health Risk |
Pathogenic |
Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome, Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome |
| RS587777630 |
STAT1
|
Health Risk |
Pathogenic |
Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome, Immunodeficiency 31B |
| RS587777631 |
KCND2
|
Health Risk |
Pathogenic |
Early myoclonic encephalopathy, Inborn genetic diseases |
| RS587777635 |
RSPH1
|
Health Risk |
Pathogenic/Likely pathogenic |
Primary ciliary dyskinesia 24, Primary ciliary dyskinesia |
| RS587777637 |
GPIHBP1
|
Health Risk |
Pathogenic |
Hyperlipoproteinemia, type 1D |
| RS587777638 |
GPIHBP1
|
Health Risk |
Pathogenic |
Hyperlipoproteinemia, type 1D |
| RS587777639 |
GPIHBP1
|
Health Risk |
Pathogenic |
Hyperlipoproteinemia, type 1D |
| RS587777640 |
GPIHBP1
|
Health Risk |
Pathogenic |
Hyperlipoproteinemia, type 1D |
| RS587777641 |
GPIHBP1
|
Health Risk |
Pathogenic |
Hyperlipoproteinemia, type 1D |
| RS587777642 |
GPIHBP1
|
Health Risk |
Pathogenic |
Hyperlipoproteinemia, type 1D |
| RS587777643 |
GPIHBP1
|
Health Risk |
Likely pathogenic |
Hyperlipoproteinemia, type 1D |
| RS587777644 |
METTL23
|
Health Risk |
Pathogenic/Likely pathogenic |
Intellectual disability, autosomal recessive 44 |
| RS587777645 |
METTL23
|
Health Risk |
Pathogenic |
Intellectual disability, autosomal recessive 44 |
| RS587777646 |
METTL23
|
Health Risk |
Pathogenic |
Intellectual disability, autosomal recessive 44 |
| RS587777648 |
STAT3
|
Health Risk |
Pathogenic |
STAT3-related early-onset multisystem autoimmune disease, STAT3-related early-onset multisystem autoimmune disease |
| RS587777649 |
STAT3
|
Health Risk |
Pathogenic |
STAT3-related early-onset multisystem autoimmune disease, STAT3-related early-onset multisystem autoimmune disease |
| RS587777650 |
STAT3
|
Health Risk |
Likely pathogenic |
STAT3-related early-onset multisystem autoimmune disease, STAT3-related early-onset multisystem autoimmune disease |
| RS587777651 |
HSD17B10
|
Health Risk |
Pathogenic |
HSD10 mitochondrial disease, HSD10 mitochondrial disease |
| RS587777652 |
TBC1D7
|
Health Risk |
Pathogenic |
Macrocephaly/megalencephaly syndrome, autosomal recessive |
| RS587777653 |
C2CD3
|
Health Risk |
Pathogenic |
Orofaciodigital syndrome type 14, Joubert syndrome |
| RS587777654 |
C2CD3
|
Health Risk |
Pathogenic |
Orofaciodigital syndrome type 14, Orofaciodigital syndrome type 14 |
| RS587777655 |
SLC35C1
|
Health Risk |
Conflicting classifications of pathogenicity |
Leukocyte adhesion deficiency type II, SLC35C1-related disorder |
| RS587777656 |
SRCAP
|
Health Risk |
Pathogenic |
Floating-Harbor syndrome, Floating-Harbor syndrome |
| RS587777657 |
SCARF2
|
Health Risk |
Pathogenic |
Van den Ende-Gupta syndrome, Van den Ende-Gupta syndrome |
| RS587777658 |
SCARF2
|
Health Risk |
Pathogenic |
Van den Ende-Gupta syndrome, Van den Ende-Gupta syndrome |
| RS587777659 |
ARMC5
|
Health Risk |
Pathogenic |
ACTH-independent macronodular adrenal hyperplasia 2, ACTH-independent macronodular adrenal hyperplasia 2 |
| RS587777660 |
ARMC5
|
Health Risk |
Pathogenic |
ACTH-independent macronodular adrenal hyperplasia 2, ACTH-independent macronodular adrenal hyperplasia 2 |
| RS587777661 |
ARMC5
|
Health Risk |
Pathogenic |
ACTH-independent macronodular adrenal hyperplasia 2, ACTH-independent macronodular adrenal hyperplasia 2 |
| RS587777663 |
ARMC5
|
Health Risk |
Pathogenic |
ACTH-independent macronodular adrenal hyperplasia 2, ACTH-independent macronodular adrenal hyperplasia 2 |
| RS587777664 |
ATOH7
|
Health Risk |
Pathogenic |
Persistent hyperplastic primary vitreous, autosomal recessive |
| RS587777666 |
ATOH7
|
Health Risk |
Pathogenic |
Persistent hyperplastic primary vitreous, autosomal recessive |
| RS587777667 |
MTRFR
|
Health Risk |
Pathogenic |
Hereditary spastic paraplegia 55, Hereditary spastic paraplegia 55 |
| RS587777668 |
MTRFR
|
Health Risk |
Pathogenic |
Hereditary spastic paraplegia 55, Hereditary spastic paraplegia 55 |
| RS587777669 |
HNRNPDL
|
Health Risk |
Pathogenic/Likely pathogenic |
Autosomal dominant limb-girdle muscular dystrophy type 1G, Autosomal dominant limb-girdle muscular dystrophy type 1G |
| RS587777670 |
ELOVL5
|
Health Risk |
Pathogenic |
Spinocerebellar ataxia type 38, Spinocerebellar ataxia type 38 |
| RS587777671 |
ELOVL5
|
Health Risk |
Pathogenic |
Spinocerebellar ataxia type 38, Spinocerebellar ataxia type 38 |
| RS587777672 |
SPEG
|
Health Risk |
Pathogenic/Likely pathogenic |
Myopathy, centronuclear |
| RS587777673 |
SPEG
|
Health Risk |
Pathogenic |
Myopathy, centronuclear |
| RS587777674 |
SPEG
|
Health Risk |
Pathogenic |
Myopathy, centronuclear |
| RS587777675 |
SPEG
|
Health Risk |
Pathogenic |
Myopathy, centronuclear |
| RS587777677 |
LAMA1
|
Health Risk |
Pathogenic |
Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome, Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome |
| RS587777678 |
LAMA1
|
Health Risk |
Pathogenic |
Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome, Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome |
| RS587777679 |
LAMA1
|
Health Risk |
Pathogenic |
Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome, Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome |
| RS587777680 |
LAMA1
|
Health Risk |
Pathogenic |
Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome, Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome |
| RS587777681 |
LAMA1
|
Health Risk |
Pathogenic |
Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome, Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome |
| RS587777682 |
TNXB
|
Health Risk |
Pathogenic |
Ehlers-Danlos syndrome due to tenascin-X deficiency, Ehlers-Danlos syndrome due to tenascin-X deficiency |
| RS587777683 |
TNXB
|
Health Risk |
Conflicting classifications of pathogenicity |
Vesicoureteral reflux 8, Vesicoureteral reflux 8 |
| RS587777684 |
TNXB
|
Health Risk |
Pathogenic |
Vesicoureteral reflux 8, Vesicoureteral reflux 8 |
| RS587777685 |
PRKDC
|
Health Risk |
Pathogenic |
Immunodeficiency 26 without neurologic abnormalities, Severe combined immunodeficiency due to DNA-PKcs deficiency |
| RS587777686 |
PRKDC
|
Health Risk |
Pathogenic |
Severe combined immunodeficiency due to DNA-PKcs deficiency, Severe combined immunodeficiency due to DNA-PKcs deficiency |
| RS587777688 |
TSFM
|
Health Risk |
Likely pathogenic |
Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3, Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3 |
| RS587777689 |
TSFM
|
Health Risk |
Conflicting classifications of pathogenicity |
Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3, Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3 |
| RS587777690 |
TMEM98
|
Health Risk |
Pathogenic |
Nanophthalmos 4, Nanophthalmos 4 |
| RS587777691 |
EPS8
|
Health Risk |
Pathogenic |
Autosomal recessive nonsyndromic hearing loss 102, Autosomal recessive nonsyndromic hearing loss 102 |
| RS587777692 |
P2RX2
|
Health Risk |
Pathogenic |
Autosomal dominant nonsyndromic hearing loss 41, Autosomal dominant nonsyndromic hearing loss 41 |
| RS587777693 |
POC1B
|
Health Risk |
Pathogenic |
Cone-rod dystrophy 20, Cone-rod dystrophy 20 |
| RS587777694 |
POC1B
|
Health Risk |
Pathogenic |
Cone-rod dystrophy 20, Retinal dystrophy |
| RS587777695 |
ZSWIM6
|
Health Risk |
Pathogenic/Likely pathogenic |
Acromelic frontonasal dysostosis, Inborn genetic diseases |
| RS587777698 |
C12orf57
|
Health Risk |
Pathogenic/Likely pathogenic |
Temtamy syndrome, Temtamy syndrome |
| RS587777699 |
LIPE
|
Health Risk |
Conflicting classifications of pathogenicity |
LIPE-related familial partial lipodystrophy, LIPE-related disorder |
| RS587777700 |
ALX4
|
Health Risk |
Pathogenic |
Parietal foramina 2, Parietal foramina 2 |
| RS587777701 |
ALX4
|
Health Risk |
Pathogenic |
Frontonasal dysplasia with alopecia and genital anomaly, Frontonasal dysplasia with alopecia and genital anomaly |
| RS587777702 |
ALX4
|
Health Risk |
Pathogenic |
Parietal foramina 2, Parietal foramina 2 |
| RS587777703 |
FBXO31
|
Health Risk |
Pathogenic |
Intellectual disability, autosomal recessive 45 |
| RS587777704 |
STAT1
|
Health Risk |
Pathogenic |
Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency, Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency |
| RS587777705 |
STAT1
|
Health Risk |
Pathogenic |
Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency, Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency |
| RS587777706 |
BMS1
|
Health Risk |
Pathogenic |
Aplasia cutis congenita, Aplasia cutis congenita |
| RS587777707 |
GNA11
|
Health Risk |
Pathogenic |
Autosomal dominant hypocalcemia 2, Autosomal dominant hypocalcemia 2 |
| RS587777709 |
PIK3R1
|
Health Risk |
Pathogenic/Likely pathogenic |
Immunodeficiency 36 with lymphoproliferation, SHORT syndrome |
| RS587777710 |
GATA6
|
Health Risk |
Pathogenic |
Pancreatic hypoplasia-diabetes-congenital heart disease syndrome, Abnormal cardiovascular system morphology |
| RS587777712 |
ARHGEF10
|
Health Risk |
Conflicting classifications of pathogenicity |
Charcot-Marie-Tooth disease, Autosomal dominant slowed nerve conduction velocity |
| RS587777714 |
FIG4
|
Health Risk |
Conflicting classifications of pathogenicity |
Charcot-Marie-Tooth disease type 4J, Charcot-Marie-Tooth disease type 4 |
| RS587777715 |
FIG4
|
Health Risk |
Pathogenic |
Charcot-Marie-Tooth disease type 4J, Charcot-Marie-Tooth disease |
| RS587777716 |
FIG4
|
Health Risk |
Conflicting classifications of pathogenicity |
Bilateral parasagittal parieto-occipital polymicrogyria, Yunis-Varon syndrome |
| RS587777717 |
KRT16
|
Health Risk |
Pathogenic |
Pachyonychia congenita 1, Pachyonychia congenita 1 |
| RS587777719 |
HPGD
|
Health Risk |
Pathogenic |
Hypertrophic osteoarthropathy, primary |