| Phenotype Name |
Clinical Significance |
dbSNP ID |
RCV Accession |
| ARFGEF1-related disorder |
Pathogenic; Likely pathogenic |
rs749942462, rs2491365757 |
RCV004753677 RCV003406103 |
| Atypical behavior |
Pathogenic; Likely pathogenic |
rs1838287933, rs146133956, rs1308211020, rs1839888192, rs1563869264, rs1840520188, rs1840585492, rs1804841321, rs1805830692 |
RCV001290722 RCV001290730 RCV001290729 RCV001290725 RCV001290726 RCV001290721 RCV001290724 RCV001290728 RCV001290727 |
| Delayed ability to walk |
Likely pathogenic |
rs2129577314 |
RCV002256955 |
| Delayed speech and language development |
Pathogenic; Likely pathogenic |
rs1838287933, rs146133956, rs1308211020, rs1839416809, rs1839888192, rs1563869264, rs1840520188, rs1840585492, rs1804841321, rs1805830692 |
RCV001290722 RCV001290730 RCV001290729 RCV001290723 RCV001290725 RCV001290726 RCV001290721 RCV001290724 RCV001290728 RCV001290727 |
| Developmental delay, impaired speech, and behavioral abnormalities, with or without seizures |
Likely pathogenic; Pathogenic |
rs2491448044, rs771760657, rs774148781, rs2491465476, rs2491942104, rs200901179, rs2491448473, rs2491713504, rs749942462, rs2491808665, rs2491464614, rs2491362882, rs1838287933, rs1840520188, rs1804841321 |
RCV002286490 RCV002467423 RCV004763492 RCV003224987 RCV003233373 RCV003314386 RCV003387594 RCV003389292 RCV003389305 RCV003448540 RCV004018023 RCV004595377 RCV002276681 RCV002276680 RCV002276683 |
| DEVELOPMENTAL DELAY, IMPAIRED SPEECH, BEHAVIORAL ABNORMALITIES, AND SEIZURES |
Pathogenic |
rs150286262, rs1840507738, rs1805830692 |
RCV002277101 RCV002276679 RCV002276682 |
| Focal-onset seizure |
Likely pathogenic |
rs2128900324 |
RCV001785398 |
| Global developmental delay |
Pathogenic; Likely pathogenic |
rs1838287933, rs146133956, rs1308211020, rs1839416809, rs1839888192, rs1563869264, rs1840520188, rs1840585492, rs1804841321, rs1805830692 |
RCV001290722 RCV001290730 RCV001290729 RCV001290723 RCV001290725 RCV001290726 RCV001290721 RCV001290724 RCV001290728 RCV001290727 |
| Intellectual disability |
Likely pathogenic; Pathogenic |
rs2128900324, rs1838287933, rs146133956, rs1308211020, rs1839888192, rs1563869264, rs1840520188, rs1840585492, rs1804841321, rs1805830692 |
RCV001785398 RCV001290722 RCV001290730 RCV001290729 RCV001290725 RCV001290726 RCV001290721 RCV001290724 RCV001290728 RCV001290727 |
| Neurodevelopmental delay |
Likely pathogenic |
rs2129578084, rs2128870578, rs2128865599, rs2129577321 |
RCV002274309 RCV002274310 RCV002274311 RCV002274312 |
| Neurodevelopmental disorder |
Likely pathogenic |
rs1805354051 |
RCV004018284 |
| Seizure |
Pathogenic |
rs1840507738, rs1838287933 |
RCV001290121 RCV001780236 |