| - GRCh37:
- Chr4:129880759
- GRCh38:
- Chr4:128959604
| SCLT1 | S348fs | Hamartoma of hypothalamus, Astigmatism, Nystagmus,
Global developmental delay, Hypermetropia, Opsoclonus
| Pathogenic
(Aug 28, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr4:129805638-129805639
- GRCh38:
- Chr4:128884483-128884484
| SCLT1 | N687fs | Hamartoma of hypothalamus, Astigmatism, Nystagmus,
Global developmental delay, Hypermetropia, Opsoclonus
| Likely pathogenic
(Aug 28, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr3:133119376
- GRCh38:
- Chr3:133400532
| BFSP2 | W150* | Seizure, Abnormal thorax morphology, Nystagmus,
Global developmental delay, Cataract, Strabismus,
Intellectual disability | Pathogenic
(Feb 16, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr17:56283840
- Chr17:56285514-56285516
- GRCh38:
- Chr17:58206479
- Chr17:58208153-58208155
| MKS1, MKS1 | C492W, C289W, S372del, S169del | Bardet-Biedl syndrome 13 | Likely pathogenic
(Nov 29, 2022) | criteria provided, single submitter |
| - GRCh38:
- Chr18:69541066-80373285
| CNDP2, LOC125371438, LOC125371439, LOC125371440, LOC126862827, LOC126862828, NFATC1, PARD6G, PARD6G-AS1, PTGR3, RBFA, MBP, MIR548AV, LOC126862829, LOC126862830, LOC126862831, LOC126862832, LOC126862833, LOC126862834, LOC284240, LOC339298, NETO1, LOC126862796, LOC126862797, LOC125371443, LOC126862784, LOC126862785, LOC126862786, NETO1-DT, LOC125371441, LOC125371442, LOC126862787, LOC126862788, LOC126862789, LOC126862790, LOC126862791, LOC126862792, CYB5A, GTSCR1, HSBP1L1, KCNG2, LINC00683, LOC126862793, LOC126862794, LOC126862795, CTDP1, CTDP1-DT, LINC00908, LINC01029, LINC01541, LINC01879, DIPK1C, DOK6, FBXO15, GALR1, ADNP2, ATP9B, C18orf63, CBLN2, CD226, CNDP1, LINC01893, LINC01896, LINC01898, LINC01899, LINC01909, LINC01910, LINC01922, LINC01927, LINC02582, LINC02864, LIVAR, LOC105372187, LOC105372228, LOC107992389, LOC110120868, LOC110120915, LOC110120931, LOC110120935, LOC110121312, LOC110121314, LOC110121318, LOC110121330, LOC112543433, LOC116276492, LOC121627836, LOC121627838, LOC121627839, LOC121627840, LOC121627841, LOC121852970, LOC124904333, LOC126862798, LOC126862799, LOC126862800, LOC126862801, LOC126862802, LOC126862803, LOC126862804, LOC126862805, LOC126862806, LOC126862807, LOC126862808, LOC126862809, LOC126862810, LOC126862811, LOC126862812, LOC126862813, LOC126862814, LOC126862815, LOC126862816, LOC126862817, LOC126862818, LOC126862819, LOC126862820, LOC126862821, LOC126862822, LOC126862823, LOC126862824, LOC126862825, LOC126862826, RBFADN, RTTN, SALL3, SLC66A2, SMIM21, SOCS6, TIMM21, TSHZ1, TXNL4A, ZNF236, ZNF236-DT, ZNF407, ZNF407-AS1, ZNF516, ZNF516-AS1, ZNF516-DT | | Gray matter heterotopia, Failure to thrive, Microcephaly,
Parietal foramina, Intellectual disability, severe, Pulmonary valve stenosis,
Intellectual disability, Scoliosis, Proportionate short stature,
Nystagmus, Short stature ...see more | Pathogenic
(Apr 14, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr16:75674214
- GRCh38:
- Chr16:75640316
| KARS1 | Q114*, Q86* | Microcephaly, Seizure, Global developmental delay,
Nystagmus | Likely pathogenic
(Aug 1, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr19:19637003
- GRCh38:
- Chr19:19526194
| LOC125371495, NDUFA13 | L36P | Nystagmus, Leigh syndrome, Lactic acidosis,
Hypertrophic cardiomyopathy, Severe global developmental delay, Decreased activity of mitochondrial complex I
| Pathogenic
(Jun 9, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr19:19638109
- GRCh38:
- Chr19:19527300
| NDUFA13 | F65fs | Nystagmus, Leigh syndrome, Lactic acidosis,
Hypertrophic cardiomyopathy, Severe global developmental delay, Decreased activity of mitochondrial complex I
| Pathogenic
(Jun 9, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr12:56847387
- GRCh38:
- Chr12:56453603
| MIP | H172fs | Microcornea, Microphthalmia, Nystagmus,
Developmental cataract | Uncertain significance
(Feb 7, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr1:68903914
- GRCh38:
- Chr1:68438231
| RPE65 | Q362* | Autism, Retinal dystrophy, Global developmental delay,
Rod-cone dystrophy, Nystagmus | Pathogenic | no assertion criteria provided |
| - GRCh37:
- Chr2:99152270-99152271
- GRCh38:
- Chr2:98535807-98535808
| INPP4A | S118fs | Microcephaly, visual disturbance, Nystagmus,
Pectus excavatum, Hypotonia | Likely pathogenic
(Jun 20, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr5:140057005
- GRCh38:
- Chr5:140677420
| HARS1 | | Choreoathetosis, Spastic ataxia, Intellectual disability,
Oculomotor apraxia, Peripheral neuropathy, Dysarthria,
Nystagmus, Cerebellar atrophy, Dysmetria,
Tremor, Spastic ataxia ...see more | Pathogenic
(Jan 4, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr5:140057507
- GRCh38:
- Chr5:140677922
| HARS1 | D132Y, D146Y, D166Y, D177Y, D186Y, D206Y, D92Y | Choreoathetosis, Spastic ataxia, Intellectual disability,
Oculomotor apraxia, Peripheral neuropathy, Dysarthria,
Nystagmus, Cerebellar atrophy, Dysmetria,
Tremor, Spastic ataxia ...see more | Pathogenic
(Jan 4, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr14:60976663
- GRCh38:
- Chr14:60509945
| C14orf39, SIX6 | D183H | Nystagmus, Developmental cataract, Microcornea,
Sclerocornea | Pathogenic | criteria provided, single submitter |
| - GRCh37:
- ChrX:129147280
- GRCh38:
- ChrX:130013304
| BCORL1 | T178A | Stereotypic movement disorder, Hypoplasia of the corpus callosum, Generalized hypotonia,
Cerebral white matter hypoplasia, Long fingers, Autism,
Autistic behavior, Facial hypotonia, Global developmental delay,
Micrognathia, Abnormal pinna morphologyDelayed speech and language development,
Long toe, Moderate global developmental delay, Abnormal cerebral white matter morphology,
Downturned corners of mouth, Abnormal corpus callosum morphology, Proximal placement of thumb,
Microcephaly, Nystagmus, Downslanted palpebral fissures,
Speech apraxia, Wide intermamillary distance, ...see more | Uncertain significance | criteria provided, single submitter |
| - GRCh37:
- Chr16:2547069
- GRCh38:
- Chr16:2497068
| TBC1D24 | N307S | Developmental and epileptic encephalopathy, 1, Autosomal dominant nonsyndromic hearing loss 65, Caused by mutation in the TBC1 domain family, member 24,
not specified, Myoclonus, Tremor,
Nystagmus, Dysarthria, Seizure
| Uncertain significance
(Feb 22, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr14:57270986-57270988
- GRCh38:
- Chr14:56804268-56804270
| OTX2 | L64fs, L56fs | Nystagmus, Hypertonia, Low-set ears,
Hypotelorism, Protruding ear, Pointed chin,
Phonophobia, Horizontal nystagmus, Anxiety
| Likely pathogenic
(Jan 1, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr8:94817079-94817080
- GRCh38:
- Chr8:93804851-93804852
| TMEM67 | | Nystagmus, Iris coloboma, Generalized hypotonia,
Cerebellar vermis hypoplasia | Likely pathogenic
(Jan 1, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr17:56285364
- GRCh38:
- Chr17:58208003
| MKS1 | | Polydactyly, Nystagmus, Hypotonia
| Pathogenic
(Jan 1, 2017) | criteria provided, single submitter |
| - GRCh37:
- ChrX:41394145
- GRCh38:
- ChrX:41534892
| CASK | | Primary microcephaly, Congenital cerebellar hypoplasia, Global developmental delay,
Hypertonia, Nystagmus | Likely pathogenic
(Jan 1, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr6:10398926-10398927
- GRCh38:
- Chr6:10398693-10398694
| TFAP2A | K340fs, K342fs, K348fs | Branchiooculofacial syndrome, Hypertelorism, Lens subluxation,
Epicanthus, Amblyopia, Abnormality of visual evoked potentials,
Iris coloboma, Nystagmus, High palate,
Low-set ears, EEG abnormalityEsotropia,
Short neck, Microphthalmia, ...see more | Pathogenic
(May 15, 2020) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:129251570
- GRCh38:
- Chr3:129532727
| RHO | S297R | Pigmentary retinal dystrophy, not provided, Exudative retinopathy,
Blindness, Nystagmus, Retinal detachment,
Cataract, Rod-cone dystrophy, Progressive visual loss,
Retinal exudate, Optic disc drusenMonocular strabismus,
Abnormality of retinal pigmentation, ...see more | Pathogenic
(Apr 28, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr17:2339561-2826073
| RAP1GAP2, CLUH, METTL16, PAFAH1B1 | | Strabismus, Microcephaly, Lissencephaly,
Global developmental delay, Hypertonia, Nystagmus,
Absent speech | Pathogenic
(Jan 1, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr8:94777641
- GRCh38:
- Chr8:93765413
| TMEM67 | R172*, R91* | RHYNS syndrome, Meckel syndrome, type 3, Nephronophthisis 11,
Joubert syndrome 6, Bardet-Biedl syndrome 14, COACH syndrome 1,
Meckel-Gruber syndrome, Familial aplasia of the vermis, Meckel syndrome, type 3,
Meckel-Gruber syndrome, Iris colobomaNystagmus,
Generalized hypotonia, Cerebellar vermis hypoplasia, ...see more | Pathogenic/Likely pathogenic
(Jun 23, 2023) | criteria provided, multiple submitters, no conflicts |
| | | | Cone/cone-rod dystrophy | Pathogenic | no assertion criteria provided |
| - GRCh37:
- ChrX:67430081
- GRCh38:
- ChrX:68210239
| OPHN1 | L249P | Congenital cerebellar hypoplasia, Nystagmus, Hypoplasia of the corpus callosum,
Seizure, Oligohydramnios, Delayed gross motor development
| Likely pathogenic
(Jun 6, 2014) | criteria provided, single submitter |
| - GRCh37:
- Chr15:90193067
- GRCh38:
- Chr15:89649836
| KIF7 | Y145S | Postaxial foot polydactyly, Spasticity, Cerebellar ataxia,
Nystagmus, Postaxial hand polydactyly, Ventriculomegaly,
Strabismus, Acrocallosal syndrome | Conflicting interpretations of pathogenicity
(Apr 24, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr17:7909969
- GRCh38:
- Chr17:8006651
| GUCY2D | G439R | not provided, Choroidal dystrophy, central areolar, 1, Nystagmus,
Abnormal electroretinogram, Leber congenital amaurosis 1, Cone-rod dystrophy 6
| Conflicting interpretations of pathogenicity
(Oct 17, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr8:87679179-87679186
- GRCh38:
- Chr8:86666951-86666958
| CNGB3 | | Achromatopsia, not provided, Abnormal electroretinogram,
Nystagmus, Achromatopsia 3, Retinal dystrophy
| Pathogenic
(Jul 5, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr14:88434737
- GRCh38:
- Chr14:87968393
| GALC | G284S, G258S, G261S | not provided, Galactosylceramide beta-galactosidase deficiency, EEG abnormality,
Amblyopia, EMG abnormality, Dysmyelinating leukodystrophy,
Nystagmus, Hemiparesis, EMG: axonal abnormality,
Developmental regression, Fetal growth restrictionSmall for gestational age,
Neonatal hypoglycemia, Loss of ambulation, Seizure,
Status epilepticus, Breech presentation, Leukodystrophy,
Global developmental delay, Strabismus, Progressive visual loss,
...see more | Pathogenic/Likely pathogenic
(Sep 7, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr14:88454867
- GRCh38:
- Chr14:87988523
| GALC | A66T, A40T | Galactosylceramide beta-galactosidase deficiency, EEG abnormality, Amblyopia,
EMG abnormality, Dysmyelinating leukodystrophy, Nystagmus,
Hemiparesis, EMG: axonal abnormality, Developmental regression,
Fetal growth restriction, Small for gestational ageNeonatal hypoglycemia,
Loss of ambulation, Seizure, Status epilepticus,
Breech presentation, Leukodystrophy, Global developmental delay,
Strabismus, Progressive visual loss, ...see more | Likely pathogenic
(Jan 1, 2016) | criteria provided, single submitter |
| - GRCh37:
- ChrX:43809133
- GRCh38:
- ChrX:43949887
| NDP, NDP-AS1 | A105V | Nystagmus, Remnants of the hyaloid vascular system, High myopia,
Short lingual frenulum | Likely pathogenic
(Dec 3, 2015) | criteria provided, single submitter |
| - GRCh37:
- Chr12:88496665
- GRCh38:
- Chr12:88102888
| CEP290 | Q981* | Joubert syndrome 5, Blindness | Pathogenic
(Jan 1, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr21:46897323
- GRCh38:
- Chr21:45477409
| COL18A1 | | not provided | Pathogenic
(Jul 19, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr21:46929468
- GRCh38:
- Chr21:45509554
| SLC19A1, COL18A1 | R1327*, R1562*, R1150* | not provided | Pathogenic
(Mar 22, 2022) | criteria provided, single submitter |
| - GRCh37:
- ChrX:9733822-9733846
- GRCh38:
- ChrX:9765782-9765806
| GPR143 | L6fs | Ocular albinism, type I, not provided, Reduced eye contact,
Ocular albinism, Nystagmus | Pathogenic/Likely pathogenic
(Sep 28, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr17:78184478-78184488
- GRCh38:
- Chr17:80210679-80210689
| SGSH | | not provided, Mucopolysaccharidosis, MPS-III-A | Pathogenic
(Oct 12, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr17:7906489-7906494
- GRCh38:
- Chr17:8003171-8003176
| GUCY2D | | Choroidal dystrophy, central areolar, 1, not specified, not provided,
Cone-rod dystrophy 6, Leber congenital amaurosis 1, Leber congenital amaurosis 1,
Cone-rod dystrophy 6, Abnormal electroretinogram, Nystagmus
| Conflicting interpretations of pathogenicity
(Oct 25, 2022) | criteria provided, conflicting interpretations |
| | | | Ankle flexion contracture, Reduced visual acuity, Generalized non-motor (absence) seizure,
Preaxial hand polydactyly, Broad toe, Decreased fetal movement,
Impaired social interactions, Tracheomalacia, Stereotypic movement disorder,
Optic nerve hypoplasia, Thick vermilion borderHypoplastic helices,
1-2 finger syndactyly, Intellectual disability, severe, Severe global developmental delay,
Gastrostomy tube feeding in infancy, Epicanthus, Abnormality of eye movement,
Short philtrum, Abnormal facial shape, Delayed speech and language development,
Depressed nasal bridge, Downslanted palpebral fissures, Tall stature,
Nystagmus, Micrognathia, Posteriorly rotated ears,
Hearing impairment, Feeding difficulties, ...see more | Uncertain significance
(Aug 20, 2016) | criteria provided, single submitter |
| | | | Abnormal periventricular white matter morphology, Recurrent otitis media, Retinal coloboma,
Penile hypospadias, Abnormal facial shape, Absent speech,
Delayed speech and language development, Mild conductive hearing impairment, Myopia,
Nystagmus, Motor delaySeizure,
Severe global developmental delay, ...see more | Uncertain significance
(Aug 20, 2016) | criteria provided, single submitter |
| | | | Nystagmus, Plagiocephaly, Attention deficit hyperactivity disorder,
Short stature, Inguinal hernia, Cryptorchidism,
Esotropia, Global developmental delay | Uncertain significance
(Aug 20, 2016) | criteria provided, single submitter |
| - GRCh37:
- ChrX:41383289
- GRCh38:
- ChrX:41524036
| CASK | | not provided, Dystonic disorder, Inability to walk,
Nystagmus | Pathogenic/Likely pathogenic
(Jan 1, 2017) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:197431557
- GRCh38:
- Chr3:197704686
| RUBCN | E107K, E47K | not provided | Uncertain significance
(Apr 29, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr3:197421288
- GRCh38:
- Chr3:197694417
| RUBCN | T503A, T548A, T562A | not provided | Uncertain significance
(Apr 29, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr15:52632432
- GRCh38:
- Chr15:52340235
| MYO5A | S1400R, S1373R, S1424R | Cerebellar cortical atrophy, Dystonic disorder, Global developmental delay,
Seizure, Nystagmus | Pathogenic
(Jan 10, 2016) | no assertion criteria provided |
| - GRCh37:
- Chr1:1736004
- GRCh38:
- Chr1:1804565
| GNB1 | L95P | Hypotonia, not provided, Microcephaly
| Pathogenic/Likely pathogenic
(Aug 16, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr8:94798483
- GRCh38:
- Chr8:93786255
| TMEM67 | R360C, R441C | Meckel-Gruber syndrome, Familial aplasia of the vermis, Bardet-Biedl syndrome 14,
Meckel syndrome, type 3, Nephronophthisis 11, COACH syndrome 1,
Joubert syndrome 6, Absent speech, Pancreatitis,
Visual impairment, Intellectual disability, severeKidney damage,
Barrel-shaped chest, Congenital ocular coloboma, Peritonitis,
Nystagmus, Cerebellar malformation, Global developmental delay,
Infantile muscular hypotonia, Cerebellar vermis hypoplasia, Tremor,
Inborn genetic diseases, Joubert syndrome 6, Renal cyst,
Familial aplasia of the vermis, Oligohydramnios, ...see more | Pathogenic/Likely pathogenic
(Feb 10, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:1737942
- GRCh38:
- Chr1:1806503
| GNB1 | I80T | Intellectual disability, autosomal dominant 42, Global developmental delay, Cerebral palsy,
Neurodevelopmental delay, Inborn genetic diseases, Intellectual disability,
Neurodevelopmental disorder, not provided | Pathogenic/Likely pathogenic
(Apr 20, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:227174237-227174238
- GRCh38:
- Chr1:226986536-226986537
| COQ8A | S582fs | Autosomal recessive ataxia due to ubiquinone deficiency, Nystagmus, Cerebellar atrophy,
Dysmetria, Slurred speech, Slightly reduced reflexes,
Cerebellar ataxia, Dysdiadochokinesis | Likely pathogenic
(Sep 26, 2019) | no assertion criteria provided |
| - GRCh37:
- Chr9:135201762-135201763
- GRCh38:
- Chr9:132326375-132326376
| SETX | D1742fs | not provided | Pathogenic
(Sep 13, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr11:88960984
- GRCh38:
- Chr11:89227816
| TYR | | Oculocutaneous albinism, Abnormality of the skin, not provided,
Tyrosinase-negative oculocutaneous albinism, Oculocutaneous albinism type 1B, Tyrosinase-negative oculocutaneous albinism,
Oculocutaneous albinism type 1B, SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN, Tyrosinase-negative oculocutaneous albinism,
Oculocutaneous albinism type 1B, Ocular albinismMyopia,
Nystagmus, Albinism, ...see more | Pathogenic/Likely pathogenic
(Sep 12, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr9:2729470
- GRCh38:
- Chr9:2729470
| KCNV2 | G461R | Retinal dystrophy, not provided, Cone dystrophy with supernormal rod response,
Nystagmus, Abnormality of the nervous system | Pathogenic/Likely pathogenic
(Oct 19, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:10042688
- GRCh38:
- Chr1:9982630
| NMNAT1 | E257K | Retinal dystrophy, not provided, Leber congenital amaurosis 9,
Leber congenital amaurosis | Pathogenic
(Jan 9, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr17:78185927
- GRCh38:
- Chr17:80212128
| SGSH | S298P | Sanfilippo syndrome, not provided, Mucopolysaccharidosis, MPS-III-A
| Pathogenic
(Oct 31, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:88911122
- GRCh38:
- Chr11:89177954
| TYR | M1V | Albinism, Slow decrease in visual acuity, Abnormality of metabolism/homeostasis,
Hypoplasia of the fovea, Choroidal neovascularization, Elevated hepatic transaminase,
Albinism, Nystagmus, Myopia,
SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN, Tyrosinase-negative oculocutaneous albinismOcular albinism with congenital sensorineural hearing loss,
Oculocutaneous albinism type 1B, Oculocutaneous albinism, not provided,
Tyrosinase-negative oculocutaneous albinism, Hypopigmentation of the skin, Iris transillumination defect,
Horizontal nystagmus, Hypopigmentation of hair, Abnormality of the skin,
...see more | Pathogenic/Likely pathogenic
(Jul 13, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:31811483
- GRCh38:
- Chr11:31789935
| ELP4, PAX6 | K387*, K237*, K388*, K320*, K373* | Irido-corneo-trabecular dysgenesis, Aniridia 1, Coloboma of optic nerve,
Congenital ocular coloboma, Irido-corneo-trabecular dysgenesis, Autosomal dominant keratitis,
Aniridia 1, Isolated optic nerve hypoplasia, Foveal hypoplasia 1,
11p partial monosomy syndrome, NystagmusVisual impairment,
Hypertelorism, not provided, Aniridia 1,
...see more | Conflicting interpretations of pathogenicity
(Oct 11, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr17:56283840
- GRCh38:
- Chr17:58206479
| MKS1 | C492W, C289W | Joubert syndrome 28, Meckel syndrome, type 1, Bardet-Biedl syndrome 13,
Joubert syndrome 28, Hypotonia, Polydactyly,
Nystagmus, Meckel-Gruber syndrome, Familial aplasia of the vermis,
not provided | Conflicting interpretations of pathogenicity
(Sep 28, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr8:94808198
- GRCh38:
- Chr8:93795970
| TMEM67 | C615R, C534R | TMEM67-Related Disorders, Inborn genetic diseases, Joubert syndrome 6,
Nephronophthisis 11, Meckel syndrome, type 3, COACH syndrome 1,
Bardet-Biedl syndrome 14, Tremor, Congenital ocular coloboma,
Absent speech, Barrel-shaped chestNystagmus,
Pancreatitis, Global developmental delay, Infantile muscular hypotonia,
Cerebellar malformation, Kidney damage, Visual impairment,
Intellectual disability, severe, Cerebellar vermis hypoplasia, Peritonitis,
Meckel-Gruber syndrome, Familial aplasia of the vermis, not provided,
RHYNS syndrome, Joubert syndrome 6, Familial aplasia of the vermis,
Oligohydramnios, Renal cyst, ...see more | Pathogenic/Likely pathogenic
(Sep 6, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr12:88477713
- GRCh38:
- Chr12:88083936
| CEP290 | K1575* | Nephronophthisis, Meckel-Gruber syndrome, Familial aplasia of the vermis,
CEP290-Related Disorders, Leber congenital amaurosis 10, Meckel syndrome, type 4,
Joubert syndrome 5, Bardet-Biedl syndrome 14, Senior-Loken syndrome 6,
Retinal dystrophy, not specifiednot provided,
Senior-Loken syndrome 6, Leber congenital amaurosis 10, Joubert syndrome 5,
Blindness, ...see more | Pathogenic
(Feb 17, 2023) | criteria provided, multiple submitters, no conflicts |