Type | Name | Gene Symbol | Clinical Significance | Chromosome | Start | Stop | Reference Allele | Alternate Allele | Review Status | Other IDs |
---|---|---|---|---|---|---|---|---|---|---|
(GRCh37) | ||||||||||
single nucleotide variant | NM_002764.4(PRPS1):c.640C>T (p.Arg214Trp) | PRPS1 | Likely pathogenic | X | 106888516 | 106888516 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA413812308 |
single nucleotide variant | NM_004208.4(AIFM1):c.710A>T (p.Asp237Val) | AIFM1 | Likely pathogenic | X | 129274579 | 129274579 | T | A | criteria provided, single submitter | ClinGen:CA414583508 |
Deletion | NM_000307.5(POU3F4):c.410del (p.Pro137fs) | POU3F4 | Likely pathogenic | X | 82763741 | 82763741 | GC | G | criteria provided, single submitter | ClinGen:CA658799810 |
single nucleotide variant | NM_002764.4(PRPS1):c.307-2A>G | PRPS1 | Pathogenic | X | 106884130 | 106884130 | A | G | criteria provided, single submitter | ClinGen:CA413806127 |
Duplication | NM_000307.5(POU3F4):c.249dup (p.Gly84fs) | POU3F4 | Pathogenic | X | 82763578 | 82763579 | G | GC | criteria provided, single submitter | - |
single nucleotide variant | NM_000307.5(POU3F4):c.975G>A (p.Trp325Ter) | POU3F4 | Pathogenic | X | 82764307 | 82764307 | G | A | criteria provided, single submitter | - |
single nucleotide variant | NM_000307.5(POU3F4):c.385C>T (p.Gln129Ter) | POU3F4 | Likely pathogenic | X | 82763717 | 82763717 | C | T | criteria provided, single submitter | - |