single nucleotide variant | NM_000444.6(PHEX):c.1768+5G>T | PHEX | Likely pathogenic | X | 22237225 | 22237225 | G | T | criteria provided, single submitter | ClinGen:CA16609167 |
single nucleotide variant | NM_000444.6(PHEX):c.1900-1G>A | PHEX | Pathogenic/Likely pathogenic | X | 22244559 | 22244559 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA16609168 |
single nucleotide variant | NM_000444.6(PHEX):c.151C>T (p.Gln51Ter) | PHEX | Pathogenic | X | 22056619 | 22056619 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA16621305 |
Deletion | NM_000444.6(PHEX):c.152_162del (p.Gln51fs) | PHEX | Pathogenic | X | 22056619 | 22056629 | ACAGGAGTACTG | A | criteria provided, single submitter | ClinGen:CA16621306 |
single nucleotide variant | NM_000444.6(PHEX):c.419C>G (p.Ser140Ter) | PHEX | Pathogenic | X | 22094575 | 22094575 | C | G | criteria provided, single submitter | ClinGen:CA16621308 |
Deletion | NM_000444.6(PHEX):c.663+1_663+45del | PHEX | Pathogenic | X | 22095819 | 22095863 | AAGGTATAATGAGGACCCATTCATCTTCTTTGCTCAGTCCTAGATT | A | criteria provided, single submitter | ClinGen:CA16621312 |
single nucleotide variant | NM_000444.6(PHEX):c.670C>T (p.Gln224Ter) | PHEX | Pathogenic | X | 22108553 | 22108553 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA16621313 |
Duplication | NM_000444.6(PHEX):c.985dup (p.His329fs) | PHEX | Pathogenic | X | 22117170 | 22117171 | A | AC | criteria provided, multiple submitters, no conflicts | ClinGen:CA16621318 |
single nucleotide variant | NM_000444.6(PHEX):c.1147C>T (p.Gln383Ter) | PHEX | Pathogenic | X | 22129652 | 22129652 | C | T | criteria provided, single submitter | ClinGen:CA16621319 |
single nucleotide variant | NM_000444.6(PHEX):c.1173+1G>C | PHEX | Pathogenic | X | 22129679 | 22129679 | G | C | criteria provided, single submitter | ClinGen:CA16621320 |