| - GRCh37:
- Chr4:6303521
- GRCh38:
- Chr4:6301794
| WFS1 | Q667* | Feeding difficulties, Abnormality of the vertebral column, Microglossia,
Nyctalopia, Hydroureter, Arachnodactyly,
Small hand, Sensorineural hearing impairment, Dandy-Walker syndrome,
Micrognathia, HydronephrosisCongenital laryngomalacia,
Cleft palate, Cerebellar vermis hypoplasia, Global developmental delay,
Diaphragmatic eventration, Duane anomaly, Abnormality of the diaphragm,
Abnormality of the cervical spine, Inborn genetic diseases, not provided,
...see more | Pathogenic/Likely pathogenic
(Nov 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:241686664
- GRCh38:
- Chr2:240747247
| KIF1A | H917Y, H1018Y, H951Y, H926Y, H1001Y, H1009Y, H1043Y, H942Y | Inborn genetic diseases, Congenital laryngomalacia, Cerebellar vermis hypoplasia,
Sensorineural hearing impairment, Nyctalopia, Diaphragmatic eventration,
Dandy-Walker syndrome, Arachnodactyly, Abnormality of the cervical spine,
Abnormality of the diaphragm, Small handGlobal developmental delay,
Cleft palate, Micrognathia, Hydronephrosis,
Feeding difficulties, Abnormality of the vertebral column, Microglossia,
Hydroureter, Duane anomaly, ...see more | Uncertain significance
(Jan 6, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:175689207
- GRCh38:
- Chr2:174824479
| CHN1 | A223T, A98T, A197T, A240T | Congenital laryngomalacia, Cerebellar vermis hypoplasia, Sensorineural hearing impairment,
Nyctalopia, Diaphragmatic eventration, Dandy-Walker syndrome,
Arachnodactyly, Abnormality of the cervical spine, Abnormality of the diaphragm,
Small hand, Global developmental delayCleft palate,
Micrognathia, Hydronephrosis, Feeding difficulties,
Abnormality of the vertebral column, Microglossia, Hydroureter,
Duane anomaly, See cases, ...see more | Likely pathogenic
(Dec 21, 2022) | criteria provided, single submitter |