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 |
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.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.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.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.1814G>C (p.Arg605Pro) | POMGNT1 | Pathogenic/Likely pathogenic | 1 | 46655211 | 46655211 | C | G | criteria provided, multiple submitters, no conflicts | ClinGen:CA116560,UniProtKB:Q8WZA1#VAR_065026,OMIM:606822.0014 |
single nucleotide variant | NM_017739.4(POMGNT1):c.652+1G>A | POMGNT1 | Likely pathogenic | 1 | 46660515 | 46660515 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA116563,OMIM:606822.0015 |
single nucleotide variant | NM_017739.4(POMGNT1):c.1469G>A (p.Cys490Tyr) | POMGNT1 | Pathogenic/Likely pathogenic | 1 | 46657840 | 46657840 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA116564,UniProtKB:Q8WZA1#VAR_023107,OMIM:606822.0016 |
single nucleotide variant | NM_201253.3(CRB1):c.3122T>C (p.Met1041Thr) | CRB1 | Pathogenic | 1 | 197404115 | 197404115 | T | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA228031,UniProtKB:P82279#VAR_011646,OMIM:604210.0002 |
single nucleotide variant | NM_201253.3(CRB1):c.2290C>T (p.Arg764Cys) | CRB1 | Pathogenic/Likely pathogenic | 1 | 197396745 | 197396745 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA228006,UniProtKB:P82279#VAR_011644,OMIM:604210.0004 |