single nucleotide variant | NM_017739.4(POMGNT1):c.187C>T (p.Arg63Ter) | POMGNT1 | Pathogenic | 1 | 46662690 | 46662690 | G | A | criteria provided, single submitter | ClinGen:CA116550,OMIM:606822.0009,OMIM:606822.0019 |
single nucleotide variant | NM_017739.4(POMGNT1):c.932G>A (p.Arg311Gln) | POMGNT1 | Pathogenic/Likely pathogenic | 1 | 46659545 | 46659545 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA211242,UniProtKB:Q8WZA1#VAR_023104,OMIM:606822.0008 |
single nucleotide variant | NM_017739.4(POMGNT1):c.1324C>T (p.Arg442Cys) | POMGNT1 | Pathogenic/Likely pathogenic | 1 | 46658069 | 46658069 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA116547,UniProtKB:Q8WZA1#VAR_023106,OMIM:606822.0007 |
single nucleotide variant | NM_017739.4(POMGNT1):c.1649G>A (p.Ser550Asn) | POMGNT1 | Likely pathogenic | 1 | 46656145 | 46656145 | C | T | criteria provided, single submitter | ClinGen:CA116540,UniProtKB:Q8WZA1#VAR_023109,OMIM:606822.0003 |
single nucleotide variant | NM_017739.4(POMGNT1):c.1413+1G>T | POMGNT1 | Likely pathogenic | 1 | 46657979 | 46657979 | C | A | criteria provided, single submitter | ClinGen:CA116538,OMIM:606822.0001 |