Type | Name | Gene Symbol | Clinical Significance | Chromosome | Start | Stop | Reference Allele | Alternate Allele | Review Status | Other IDs |
---|
(GRCh37) |
---|
single nucleotide variant | NM_000444.6(PHEX):c.871C>T (p.Arg291Ter) | PHEX | Pathogenic | X | 22115094 | 22115094 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA16043251 |
single nucleotide variant | NM_000444.6(PHEX):c.1173+2T>C | PHEX | Pathogenic | X | 22129680 | 22129680 | T | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA16043252 |
single nucleotide variant | NM_000444.6(PHEX):c.1586+6T>G | PHEX | Likely pathogenic | X | 22196499 | 22196499 | T | G | criteria provided, single submitter | ClinGen:CA16043257 |
single nucleotide variant | NM_000444.6(PHEX):c.1700G>C (p.Arg567Pro) | PHEX | Pathogenic/Likely pathogenic | X | 22231075 | 22231075 | G | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA16043260 |
single nucleotide variant | NM_000444.6(PHEX):c.1715G>T (p.Gly572Val) | PHEX | Pathogenic/Likely pathogenic | X | 22237167 | 22237167 | G | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA16043263 |
single nucleotide variant | NM_000444.6(PHEX):c.436+1G>C | PHEX | Likely pathogenic | X | 22094593 | 22094593 | G | C | criteria provided, single submitter | ClinGen:CA16043304 |
single nucleotide variant | NM_000444.6(PHEX):c.503C>T (p.Pro168Leu) | PHEX | Pathogenic | X | 22095660 | 22095660 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA16043306 |
Deletion | NM_000444.6(PHEX):c.883del (p.Ala295fs) | PHEX | Pathogenic | X | 22115105 | 22115105 | AG | A | criteria provided, single submitter | ClinGen:CA16043307 |
Duplication | NM_000444.6(PHEX):c.1046dup (p.Asp349fs) | PHEX | Pathogenic | X | 22117235 | 22117236 | G | GA | criteria provided, single submitter | ClinGen:CA16043308 |
single nucleotide variant | NM_000444.6(PHEX):c.1715G>A (p.Gly572Asp) | PHEX | Pathogenic/Likely pathogenic | X | 22237167 | 22237167 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA16043311 |