| Phenotype Name |
Clinical Significance |
dbSNP ID |
RCV Accession |
Evidence Score |
| Atrophy/Degeneration affecting the central nervous system |
Likely pathogenic; Pathogenic |
rs1940246962, rs2498897479, rs2498894678, rs2498893389 |
RCV002280591 RCV002280592 RCV002280594 RCV002280595 |
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |
| Dystonic disorder |
Likely pathogenic; Pathogenic |
rs1940246962, rs2498894678 |
RCV002280591 RCV002280594 |
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |
| Global developmental delay |
Likely pathogenic; Pathogenic |
rs2498893389 |
RCV005424835 |
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |
| Hypotonia |
Likely pathogenic; Pathogenic |
rs2498893389 |
RCV002280595 |
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |
| Intellectual disability |
Likely pathogenic; Pathogenic |
rs1940246962, rs2498897479, rs2498894678, rs2498893389 |
RCV002280591 RCV002280592 RCV002280594 RCV002280595 |
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |
| Kyphosis |
Pathogenic |
rs2498897479 |
RCV002280592 |
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |
| Microcephaly |
Likely pathogenic; Pathogenic |
rs1940246962, rs2498894678, rs2498893389 |
RCV002280591 RCV002280594 RCV002280595 |
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |
| Myopathic facies |
Likely pathogenic; Pathogenic |
rs2498893389 |
RCV005424835 |
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |
| Pectus excavatum |
Likely pathogenic; Pathogenic |
rs2498893389 |
RCV002280595 |
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |
| Scoliosis |
Likely pathogenic; Pathogenic |
rs1940246962, rs2498894678 |
RCV002280591 RCV002280594 |
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |