| RS587776942 |
EPG5
|
Health Risk |
Pathogenic |
Vici syndrome, Vici syndrome |
| RS587776943 |
MGME1
|
Health Risk |
Pathogenic/Likely pathogenic |
Mitochondrial DNA depletion syndrome 11, Mitochondrial DNA depletion syndrome 11 |
| RS587776944 |
MGME1
|
Health Risk |
Pathogenic |
Mitochondrial DNA depletion syndrome 11, Mitochondrial DNA depletion syndrome 11 |
| RS587776945 |
LRIG2
|
Health Risk |
Pathogenic |
Urofacial syndrome 2, Urofacial syndrome 2 |
| RS587776946 |
LRIG2
|
Health Risk |
Pathogenic |
Urofacial syndrome 2, Urofacial syndrome 2 |
| RS587776947 |
LRIG2
|
Health Risk |
Pathogenic |
Urofacial syndrome 2, Urofacial syndrome 2 |
| RS587776948 |
CACNA2D2
|
Health Risk |
Pathogenic |
Cerebellar atrophy with seizures and variable developmental delay, Cerebellar atrophy with seizures and variable developmental delay |
| RS587776949 |
NDUFS4
|
Health Risk |
Pathogenic |
Mitochondrial complex I deficiency, nuclear type 1 |
| RS587776950 |
TENM3
|
Health Risk |
Pathogenic |
Microphthalmia, isolated |
| RS587776951 |
CANT1
|
Health Risk |
Pathogenic |
Desbuquois dysplasia 1, Desbuquois dysplasia 1 |
| RS587776952 |
LRMDA
|
Health Risk |
Likely pathogenic |
Oculocutaneous albinism type 7, Oculocutaneous albinism type 7 |
| RS587776953 |
LRMDA
|
Health Risk |
Pathogenic |
Oculocutaneous albinism type 7, LRMDA-related disorder |
| RS587776954 |
C12orf57
|
Health Risk |
Pathogenic/Likely pathogenic |
Temtamy syndrome, Global developmental delay |
| RS587776955 |
C12orf57
|
Health Risk |
Pathogenic |
Temtamy syndrome, Temtamy syndrome |
| RS587776958 |
RAB33B
|
Health Risk |
Likely pathogenic |
Smith-McCort dysplasia 2, Smith-McCort dysplasia 2 |
| RS587776959 |
ZNF141
|
Health Risk |
Pathogenic/Likely pathogenic |
Polydactyly, postaxial |
| RS587776961 |
SLC35A2
|
Health Risk |
Pathogenic |
SLC35A2-congenital disorder of glycosylation, SLC35A2-congenital disorder of glycosylation |
| RS587776962 |
SLC35A2
|
Health Risk |
Pathogenic |
SLC35A2-congenital disorder of glycosylation, SLC35A2-congenital disorder of glycosylation |
| RS587776964 |
CLMP
|
Health Risk |
Pathogenic |
Congenital short bowel syndrome, autosomal recessive |
| RS587776965 |
CLMP
|
Health Risk |
Pathogenic |
Congenital short bowel syndrome, autosomal recessive |
| RS587776966 |
CLMP
|
Health Risk |
Pathogenic |
Intestinal pseudo-obstruction, Congenital short bowel syndrome |
| RS587776967 |
CLMP
|
Health Risk |
Pathogenic |
Congenital short bowel syndrome, autosomal recessive |
| RS587776968 |
CIDEC
|
Health Risk |
Pathogenic |
CIDEC-related familial partial lipodystrophy, CIDEC-related familial partial lipodystrophy |
| RS587776969 |
ARHGDIA
|
Health Risk |
Pathogenic |
Nephrotic syndrome, type 8 |
| RS587776970 |
PGAP2
|
Health Risk |
Pathogenic |
Hyperphosphatasia with intellectual disability syndrome 3, Hyperphosphatasia with intellectual disability syndrome 3 |
| RS587776971 |
TTC7A
|
Health Risk |
Pathogenic |
TTC7A-related disorder, Gastrointestinal defects and immunodeficiency syndrome 1 |
| RS587776972 |
TTC7A
|
Health Risk |
Pathogenic/Likely pathogenic |
Gastrointestinal defect and immunodeficiency syndrome, Gastrointestinal defects and immunodeficiency syndrome 1 |
| RS587776973 |
DEPDC5
|
Health Risk |
Pathogenic |
Epilepsy, familial focal |
| RS587776974 |
DEPDC5
|
Health Risk |
Pathogenic |
Epilepsy, familial focal |
| RS587776975 |
DEPDC5
|
Health Risk |
Pathogenic |
Epilepsy, familial focal |
| RS587776976 |
DEPDC5
|
Health Risk |
Pathogenic |
Epilepsy, familial focal |
| RS587776977 |
DEPDC5
|
Health Risk |
Pathogenic |
Epilepsy, familial focal |
| RS587776979 |
IL17RD
|
Health Risk |
Uncertain significance; risk factor |
HYPOGONADOTROPIC HYPOGONADISM 18 WITH ANOSMIA, SUSCEPTIBILITY TO |
| RS587776980 |
IL17RD
|
Health Risk |
Pathogenic |
Hypogonadotropic hypogonadism 18 with anosmia, Hypogonadotropic hypogonadism 18 with anosmia |
| RS587776981 |
SPRY4
|
Health Risk |
Pathogenic |
Hypogonadotropic hypogonadism 17 with or without anosmia, Hypogonadotropic hypogonadism 17 with or without anosmia |
| RS587776982 |
NGLY1
|
Health Risk |
Pathogenic |
Congenital disorder of deglycosylation, Congenital disorder of deglycosylation 1 |
| RS587776983 |
TUBB4A
|
Health Risk |
Pathogenic |
Torsion dystonia 4, Hypomyelinating leukodystrophy 6 |
| RS587776984 |
DARS1
|
Health Risk |
Conflicting classifications of pathogenicity |
Hypomyelination with brain stem and spinal cord involvement and leg spasticity, Hypomyelination with brain stem and spinal cord involvement and leg spasticity |
| RS587776985 |
DARS1
|
Health Risk |
Pathogenic |
Hypomyelination with brain stem and spinal cord involvement and leg spasticity, Hypomyelination with brain stem and spinal cord involvement and leg spasticity |
| RS587776986 |
SBF1
|
Health Risk |
Pathogenic/Likely pathogenic |
Charcot-Marie-Tooth disease type 4B3, Microcephaly |
| RS587776987 |
PIEZO1
|
Health Risk |
Likely pathogenic |
Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema, Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema |
| RS587776988 |
PIEZO1
|
Health Risk |
Likely pathogenic |
Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema, PIEZO1-related disorder |
| RS587776989 |
PIEZO1
|
Health Risk |
Pathogenic/Likely pathogenic |
Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema, Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema |
| RS587776990 |
PIEZO1
|
Health Risk |
Pathogenic |
Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema, Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema |
| RS587776991 |
PIEZO1
|
Health Risk |
Pathogenic/Likely pathogenic |
Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema, Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema |
| RS587776992 |
PIEZO1
|
Health Risk |
Likely pathogenic |
Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema, Lymphatic malformation 6 |
| RS587776993 |
EOGT
|
Health Risk |
Pathogenic |
Adams-Oliver syndrome 4, Adams-Oliver syndrome 4 |
| RS587776994 |
EOGT
|
Health Risk |
Pathogenic/Likely pathogenic |
Adams-Oliver syndrome 4, Adams-Oliver syndrome |
| RS587776995 |
EOGT
|
Health Risk |
Pathogenic |
Adams-Oliver syndrome 4, Adams-Oliver syndrome 4 |
| RS587776996 |
CERS3
|
Health Risk |
Likely pathogenic |
Autosomal recessive congenital ichthyosis 9, Ichthyosis |
| RS587776997 |
DRC1
|
Health Risk |
Pathogenic |
Primary ciliary dyskinesia 21, Primary ciliary dyskinesia 21 |
| RS587776998 |
KCTD1
|
Health Risk |
Pathogenic |
Scalp-ear-nipple syndrome, Scalp-ear-nipple syndrome |
| RS587776999 |
KCTD1
|
Health Risk |
Pathogenic |
Scalp-ear-nipple syndrome, Scalp-ear-nipple syndrome |
| RS587777000 |
KCTD1
|
Health Risk |
Pathogenic |
Scalp-ear-nipple syndrome, Scalp-ear-nipple syndrome |
| RS587777001 |
KCTD1
|
Health Risk |
Pathogenic |
Scalp-ear-nipple syndrome, Scalp-ear-nipple syndrome |
| RS587777002 |
KCTD1
|
Health Risk |
Pathogenic |
Scalp-ear-nipple syndrome, Scalp-ear-nipple syndrome |
| RS587777003 |
KCTD1
|
Health Risk |
Likely pathogenic |
Scalp-ear-nipple syndrome, Scalp-ear-nipple syndrome |
| RS587777004 |
COX20
|
Health Risk |
Pathogenic |
Mitochondrial complex IV deficiency, nuclear type 11 |
| RS587777005 |
LGR4
|
Health Risk |
association |
Bone mineral density quantitative trait locus 17, Bone mineral density quantitative trait locus 17 |
| RS587777006 |
ERF
|
Health Risk |
Pathogenic |
Lambdoidal craniosynostosis, TWIST1-related craniosynostosis |
| RS587777007 |
ERF
|
Health Risk |
Pathogenic/Likely pathogenic |
Lambdoidal craniosynostosis, TWIST1-related craniosynostosis |
| RS587777008 |
ERF
|
Health Risk |
Pathogenic/Likely pathogenic |
Lambdoidal craniosynostosis, TWIST1-related craniosynostosis |
| RS587777009 |
ERF
|
Health Risk |
Conflicting classifications of pathogenicity |
Lambdoidal craniosynostosis, TWIST1-related craniosynostosis |
| RS587777010 |
ERF
|
Health Risk |
Pathogenic |
Lambdoidal craniosynostosis, Lambdoidal craniosynostosis |
| RS587777011 |
FAM111A
|
Health Risk |
Pathogenic/Likely pathogenic |
Autosomal dominant Kenny-Caffey syndrome, Osteocraniostenosis |
| RS587777012 |
FAM111A
|
Health Risk |
Conflicting classifications of pathogenicity |
Autosomal dominant Kenny-Caffey syndrome, Autosomal dominant Kenny-Caffey syndrome |
| RS587777013 |
FAM111A
|
Health Risk |
Pathogenic/Likely pathogenic |
Osteocraniostenosis, Osteocraniostenosis |
| RS587777014 |
FAM111A
|
Health Risk |
Pathogenic/Likely pathogenic |
Osteocraniostenosis, Osteocraniostenosis |
| RS587777015 |
FAM111A
|
Health Risk |
Pathogenic |
Osteocraniostenosis, Osteocraniostenosis |
| RS587777016 |
IBA57
|
Health Risk |
Pathogenic |
Multiple mitochondrial dysfunctions syndrome 3, Multiple mitochondrial dysfunctions syndrome 3 |
| RS587777017 |
CAV1
|
Health Risk |
Pathogenic |
Pulmonary hypertension, primary |
| RS587777019 |
GNA11
|
Health Risk |
Pathogenic |
Familial hypocalciuric hypercalcemia 2, Familial hypocalciuric hypercalcemia 2 |
| RS587777021 |
GNA11
|
Health Risk |
Pathogenic/Likely pathogenic |
Autosomal dominant hypocalcemia 2, Familial hypocalciuric hypercalcemia 2 |
| RS587777022 |
GNA11
|
Health Risk |
Pathogenic |
Autosomal dominant hypocalcemia 2, Autosomal dominant hypocalcemia 2 |
| RS587777024 |
ANKS6
|
Health Risk |
Pathogenic |
Nephronophthisis 16, Nephronophthisis 16 |
| RS587777025 |
ANKS6
|
Health Risk |
Pathogenic |
Nephronophthisis 16, Nephronophthisis 16 |
| RS587777027 |
PIGT
|
Health Risk |
Likely pathogenic |
Multiple congenital anomalies-hypotonia-seizures syndrome 3, Multiple congenital anomalies-hypotonia-seizures syndrome 3 |
| RS587777028 |
PIGT
|
Health Risk |
risk factor |
Paroxysmal nocturnal hemoglobinuria 2, Paroxysmal nocturnal hemoglobinuria 2 |
| RS587777030 |
THOC6
|
Health Risk |
Likely pathogenic |
THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome, THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome |
| RS587777033 |
KIF2A
|
Health Risk |
Pathogenic |
Complex cortical dysplasia with other brain malformations 3, Complex cortical dysplasia with other brain malformations 3 |
| RS587777034 |
KIF2A
|
Health Risk |
Pathogenic |
Complex cortical dysplasia with other brain malformations 3, Complex cortical dysplasia with other brain malformations 3 |
| RS587777035 |
KIF5C
|
Health Risk |
Likely pathogenic |
Complex cortical dysplasia with other brain malformations 2, Complex cortical dysplasia with other brain malformations 2 |
| RS587777036 |
PHC1
|
Health Risk |
Pathogenic/Likely pathogenic |
Microcephaly 11, primary |
| RS587777037 |
RTEL1
|
Health Risk |
Conflicting classifications of pathogenicity |
Dyskeratosis congenita, autosomal recessive 5 |
| RS587777038 |
NALCN
|
Health Risk |
Pathogenic |
Hypotonia, infantile |
| RS587777039 |
MMP14
|
Health Risk |
Pathogenic |
Winchester syndrome, Winchester syndrome |
| RS587777040 |
ELMOD3
|
Health Risk |
Pathogenic |
Autosomal recessive nonsyndromic hearing loss 88, Autosomal recessive nonsyndromic hearing loss 88 |
| RS587777041 |
CYC1
|
Health Risk |
Pathogenic |
Mitochondrial complex III deficiency nuclear type 6, Mitochondrial complex III deficiency nuclear type 6 |
| RS587777042 |
CYC1
|
Health Risk |
Pathogenic |
Mitochondrial complex III deficiency nuclear type 6, Mitochondrial complex III deficiency nuclear type 6 |
| RS587777043 |
ZMYND10
|
Health Risk |
Pathogenic |
Primary ciliary dyskinesia 22, Primary ciliary dyskinesia |
| RS587777044 |
ZMYND10
|
Health Risk |
Pathogenic |
Primary ciliary dyskinesia 22, Primary ciliary dyskinesia 22 |
| RS587777045 |
ZMYND10
|
Health Risk |
Pathogenic |
Primary ciliary dyskinesia 22, Primary ciliary dyskinesia 22 |
| RS587777046 |
MRAP2
|
Health Risk |
risk factor |
Body mass index quantitative trait locus 18, Body mass index quantitative trait locus 18 |
| RS587777047 |
ODAD2
|
Health Risk |
Pathogenic/Likely pathogenic |
Primary ciliary dyskinesia 23, Kartagener syndrome |
| RS587777048 |
ODAD2
|
Health Risk |
Pathogenic |
Primary ciliary dyskinesia 23, Primary ciliary dyskinesia 23 |
| RS587777049 |
ODAD2
|
Health Risk |
Pathogenic |
Primary ciliary dyskinesia 23, Primary ciliary dyskinesia 23 |
| RS587777050 |
FGF16
|
Health Risk |
Pathogenic |
Syndactyly type 8, Syndactyly type 8 |
| RS587777051 |
FGF16
|
Health Risk |
Pathogenic |
Syndactyly type 8, Syndactyly type 8 |
| RS587777052 |
EEF2
|
Health Risk |
Pathogenic |
Spinocerebellar ataxia type 26, Spinocerebellar ataxia type 26 |
| RS587777053 |
ATP13A2
|
Health Risk |
Pathogenic |
Kufor-Rakeb syndrome, Kufor-Rakeb syndrome |