| RS606231251 |
SLC17A9
|
Health Risk |
Pathogenic |
Porokeratosis 8, disseminated superficial actinic type |
| RS606231252 |
ZFPM2
|
Health Risk |
Pathogenic |
46, XY sex reversal 9 |
| RS606231253 |
EGFR
|
Health Risk |
Pathogenic |
Inflammatory skin and bowel disease, neonatal |
| RS606231254 |
DNAL4
|
Health Risk |
Pathogenic |
Mirror movements 3, Mirror movements 3 |
| RS606231255 |
CDK6
|
Health Risk |
Pathogenic |
Microcephaly 12, primary |
| RS606231256 |
CORO1A
|
Health Risk |
Pathogenic |
Severe combined immunodeficiency due to CORO1A deficiency, Severe combined immunodeficiency due to CORO1A deficiency |
| RS606231257 |
HACD1
|
Health Risk |
Pathogenic |
Congenital myopathy 11, Congenital myopathy 11 |
| RS606231258 |
CPLANE1
|
Health Risk |
Pathogenic |
Orofaciodigital syndrome type 6, Orofaciodigital syndrome type 6 |
| RS606231259 |
CPLANE1
|
Health Risk |
Pathogenic |
Orofaciodigital syndrome type 6, Joubert syndrome 17 |
| RS606231260 |
CPLANE1
|
Health Risk |
Pathogenic/Likely pathogenic |
Orofaciodigital syndrome type 6, Joubert syndrome 17 |
| RS606231261 |
CPLANE1
|
Health Risk |
Conflicting classifications of pathogenicity |
Orofaciodigital syndrome type 6, Orofaciodigital syndrome type 6 |
| RS606231265 |
ATL1
|
Health Risk |
Pathogenic |
Hereditary spastic paraplegia 3A, Hereditary spastic paraplegia 3A |
| RS606231266 |
ZMYND11
|
Health Risk |
Likely pathogenic |
Intellectual disability, autosomal dominant 30 |
| RS606231267 |
ZMYND11
|
Health Risk |
Pathogenic |
Intellectual disability, autosomal dominant 30 |
| RS606231268 |
ZMYND11
|
Health Risk |
Pathogenic |
Intellectual disability, autosomal dominant 30 |
| RS606231269 |
SETBP1
|
Health Risk |
Pathogenic |
Intellectual disability, autosomal dominant 29 |
| RS606231270 |
SETBP1
|
Health Risk |
Pathogenic |
Intellectual disability, autosomal dominant 29 |
| RS606231271 |
SETBP1
|
Health Risk |
Pathogenic |
Intellectual disability, autosomal dominant 29 |
| RS606231272 |
SETBP1
|
Health Risk |
Pathogenic |
Intellectual disability, autosomal dominant 29 |
| RS606231273 |
SETBP1
|
Health Risk |
Pathogenic |
Intellectual disability, autosomal dominant 29 |
| RS606231275 |
CDSN
|
Health Risk |
Pathogenic |
Peeling skin syndrome 1, Peeling skin syndrome 1 |
| RS606231276 |
TGM5
|
Health Risk |
Conflicting classifications of pathogenicity |
Acral peeling skin syndrome, Acral peeling skin syndrome |
| RS606231277 |
TGM5
|
Health Risk |
Pathogenic |
Acral peeling skin syndrome, Peeling skin syndrome 1 |
| RS606231278 |
TGM5
|
Health Risk |
Pathogenic |
Acral peeling skin syndrome, Acral peeling skin syndrome |
| RS606231279 |
SCN9A
|
Health Risk |
Conflicting classifications of pathogenicity |
Neuropathy, hereditary sensory and autonomic |
| RS606231280 |
SCN11A
|
Health Risk |
Conflicting classifications of pathogenicity |
Familial episodic pain syndrome with predominantly lower limb involvement, Hereditary sensory and autonomic neuropathy type 7 |
| RS606231281 |
EPCAM
|
Health Risk |
Pathogenic |
Congenital diarrhea 5 with tufting enteropathy, Congenital diarrhea 5 with tufting enteropathy |
| RS606231282 |
CNKSR2
|
Health Risk |
Pathogenic |
Intellectual disability, X-linked |
| RS606231283 |
ITM2B
|
Health Risk |
Pathogenic |
Retinal dystrophy with inner retinal dysfunction and ganglion cell anomalies, Retinal dystrophy with inner retinal dysfunction and ganglion cell anomalies |
| RS606231284 |
SPINT2
|
Health Risk |
Pathogenic |
Congenital secretory sodium diarrhea 3, Congenital secretory sodium diarrhea 3 |
| RS606231285 |
EXOSC8
|
Health Risk |
Pathogenic |
Pontocerebellar hypoplasia, type 1C |
| RS606231286 |
KHDC3L
|
Health Risk |
Pathogenic |
Hydatidiform mole, recurrent |
| RS606231287 |
TRNT1
|
Health Risk |
Pathogenic |
Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome, Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome |
| RS606231289 |
TRNT1
|
Health Risk |
Pathogenic |
Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome, Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome |
| RS606231290 |
TRNT1
|
Health Risk |
Pathogenic |
Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome, Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome |
| RS606231291 |
TRNT1
|
Health Risk |
Pathogenic |
Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome, Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome |
| RS606231292 |
SYNE1
|
Health Risk |
Pathogenic |
Autosomal recessive ataxia, Beauce type |
| RS606231293 |
DSP
|
Health Risk |
Pathogenic |
Cardiomyopathy, dilated |
| RS606231294 |
DSP
|
Health Risk |
Likely pathogenic |
Cardiomyopathy, dilated |
| RS606231295 |
DSP
|
Health Risk |
Pathogenic |
Cardiomyopathy, dilated |
| RS606231296 |
PRKCD
|
Health Risk |
Pathogenic |
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD |
| RS606231297 |
PRKCD
|
Health Risk |
Conflicting classifications of pathogenicity |
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD |
| RS606231298 |
SSR4
|
Health Risk |
Pathogenic |
SSR4-congenital disorder of glycosylation, SSR4-congenital disorder of glycosylation |
| RS606231299 |
SLC16A1;SLC16A1-AS1
|
Health Risk |
Pathogenic |
Monocarboxylate transporter 1 deficiency, autosomal recessive |
| RS606231300 |
SLC16A1
|
Health Risk |
Pathogenic |
Monocarboxylate transporter 1 deficiency, autosomal dominant |
| RS606231301 |
SLC16A1
|
Health Risk |
Pathogenic/Likely pathogenic |
Monocarboxylate transporter 1 deficiency, autosomal dominant |
| RS606231303 |
KANK2
|
Health Risk |
Pathogenic |
Wooly hair-palmoplantar keratoderma syndrome, Wooly hair-palmoplantar keratoderma syndrome |
| RS606231304 |
FGF16
|
Health Risk |
Likely pathogenic |
Syndactyly type 8, Syndactyly type 8 |
| RS606231305 |
BCL10
|
Health Risk |
Pathogenic |
Immunodeficiency 37, Immunodeficiency 37 |
| RS606231306 |
POMK
|
Health Risk |
Pathogenic |
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a |
| RS606231307 |
KYNU
|
Health Risk |
Pathogenic |
Hydroxykynureninuria, Hydroxykynureninuria |
| RS606231308 |
CLIC5
|
Health Risk |
Pathogenic |
Autosomal recessive nonsyndromic hearing loss 103, Autosomal recessive nonsyndromic hearing loss 103 |
| RS606231309 |
SLC16A1
|
Health Risk |
Likely pathogenic |
Monocarboxylate transporter 1 deficiency, autosomal recessive |
| RS606231310 |
SLC16A1
|
Health Risk |
Pathogenic |
Monocarboxylate transporter 1 deficiency, autosomal recessive |
| RS606231311 |
SLC16A1
|
Health Risk |
Pathogenic/Likely pathogenic |
Monocarboxylate transporter 1 deficiency, autosomal dominant |
| RS606231312 |
SLC16A1
|
Health Risk |
Likely pathogenic |
Monocarboxylate transporter 1 deficiency, autosomal dominant |
| RS606231313 |
MYH7
|
Health Risk |
Conflicting classifications of pathogenicity |
Cardiomyopathy, Hypertrophic cardiomyopathy |
| RS606231315 |
MYH7
|
Health Risk |
Likely pathogenic |
Familial cardiomyopathy, Familial cardiomyopathy |
| RS606231316 |
MYH7
|
Health Risk |
Pathogenic |
Familial cardiomyopathy, Familial cardiomyopathy |
| RS606231318 |
MYH7
|
Health Risk |
Likely pathogenic |
Familial cardiomyopathy, Familial cardiomyopathy |
| RS606231319 |
MYH7
|
Health Risk |
Pathogenic |
Familial cardiomyopathy, Familial cardiomyopathy |
| RS606231321 |
MYH7
|
Health Risk |
Likely pathogenic |
Familial cardiomyopathy, Familial cardiomyopathy |
| RS606231323 |
MYH7
|
Health Risk |
Pathogenic |
Familial cardiomyopathy, Familial cardiomyopathy |
| RS606231324 |
MYH7
|
Health Risk |
Pathogenic/Likely pathogenic |
Familial cardiomyopathy, Left ventricular noncompaction cardiomyopathy |
| RS606231328 |
MYH7
|
Health Risk |
Conflicting classifications of pathogenicity |
Hypertrophic cardiomyopathy, Cardiomyopathy |
| RS606231329 |
MYH7
|
Health Risk |
Pathogenic |
Familial cardiomyopathy, Familial cardiomyopathy |
| RS606231331 |
MYH7
|
Health Risk |
Pathogenic |
Familial cardiomyopathy, Familial cardiomyopathy |
| RS606231332 |
MYH7
|
Health Risk |
Conflicting classifications of pathogenicity |
Familial cardiomyopathy, Hypertrophic cardiomyopathy |
| RS606231334 |
MYH7
|
Health Risk |
Pathogenic |
Familial cardiomyopathy, Dilated cardiomyopathy 1S |
| RS606231335 |
MYH7
|
Health Risk |
Likely pathogenic |
Familial cardiomyopathy, Familial cardiomyopathy |
| RS606231337 |
LOC126861898;MYH7
|
Health Risk |
Pathogenic |
Familial cardiomyopathy, Familial cardiomyopathy |
| RS606231340 |
MYH7
|
Health Risk |
Likely pathogenic |
Familial cardiomyopathy, Hypertrophic cardiomyopathy 1 |
| RS606231342 |
SOX10
|
Health Risk |
Likely pathogenic |
Hirschsprung disease, susceptibility to |
| RS606231343 |
MCM8
|
Health Risk |
Pathogenic |
Premature ovarian failure 10, Premature ovarian failure 10 |
| RS606231351 |
WDR72
|
Health Risk |
Pathogenic |
Amelogenesis imperfecta hypomaturation type 2A3, Renal tubulopathies |
| RS606231352 |
NKX3-2
|
Health Risk |
Pathogenic |
Spondylo-megaepiphyseal-metaphyseal dysplasia, Spondylo-megaepiphyseal-metaphyseal dysplasia |
| RS606231353 |
NKX3-2
|
Health Risk |
Pathogenic |
Spondylo-megaepiphyseal-metaphyseal dysplasia, Spondylo-megaepiphyseal-metaphyseal dysplasia |
| RS606231354 |
NKX3-2
|
Health Risk |
Pathogenic |
Spondylo-megaepiphyseal-metaphyseal dysplasia, Spondylo-megaepiphyseal-metaphyseal dysplasia |
| RS606231355 |
EYA1
|
Health Risk |
Pathogenic |
Branchiootorenal syndrome 1, Branchiootorenal syndrome 1 |
| RS606231356 |
EYA1
|
Health Risk |
Pathogenic |
Branchiootic syndrome 1, Branchiootic syndrome 1 |
| RS606231357 |
EYA1
|
Health Risk |
Conflicting classifications of pathogenicity |
Branchiootorenal syndrome 1, Melnick-Fraser syndrome |
| RS606231358 |
NKX2-5
|
Health Risk |
Pathogenic |
Atrial septal defect 7, Atrial septal defect 7 |
| RS606231359 |
NKX2-5
|
Health Risk |
Pathogenic |
Atrial septal defect 7, Atrial septal defect 7 |
| RS606231360 |
NKX2-5
|
Health Risk |
Pathogenic |
Atrial septal defect 7, Atrial septal defect 7 |
| RS606231361 |
FAS
|
Health Risk |
Pathogenic |
AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA |
| RS606231362 |
FAS
|
Health Risk |
Pathogenic |
AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA |
| RS606231363 |
FAS
|
Health Risk |
Pathogenic |
AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA |
| RS606231364 |
FAS
|
Health Risk |
Pathogenic |
AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA |
| RS606231365 |
FAS
|
Health Risk |
Pathogenic |
AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA |
| RS606231366 |
FAS
|
Health Risk |
Pathogenic |
AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA |
| RS606231367 |
COL9A3
|
Health Risk |
Pathogenic |
Epiphyseal dysplasia, multiple |
| RS606231372 |
COL4A5
|
Health Risk |
Likely pathogenic |
X-linked Alport syndrome, X-linked Alport syndrome |
| RS606231376 |
COL9A2
|
Health Risk |
Pathogenic |
Stickler syndrome, type 5 |
| RS606231379 |
MYO7A
|
Health Risk |
Pathogenic |
Rare genetic deafness, Rare genetic deafness |
| RS606231383 |
GDF1
|
Health Risk |
Pathogenic/Likely pathogenic |
Right atrial isomerism, Congenital heart defects |
| RS606231388 |
ELP4
|
Health Risk |
Pathogenic |
Aniridia 1, Aniridia 1 |
| RS606231404 |
BRCA2
|
Health Risk |
Pathogenic |
Breast-ovarian cancer, familial |
| RS606231406 |
GNRHR
|
Health Risk |
Pathogenic |
Hypogonadotropic hypogonadism 7 with or without anosmia, Hypogonadotropic hypogonadism 7 with or without anosmia |
| RS606231408 |
FGF8
|
Health Risk |
Conflicting classifications of pathogenicity |
Hypogonadotropic hypogonadism 6 with or without anosmia, FGF8-related disorder |
| RS606231409 |
ANOS1
|
Health Risk |
Pathogenic |
Hypogonadotropic hypogonadism 1 with or without anosmia, ANOS1-related disorder |