single nucleotide variant | NM_001243133.2(NLRP3):c.977G>A (p.Gly326Glu) | NLRP3 | Pathogenic | 1 | 247587728 | 247587728 | G | A | criteria provided, single submitter | ClinGen:CA281443 |
single nucleotide variant | NM_001243133.2(NLRP3):c.931G>A (p.Glu311Lys) | NLRP3 | Pathogenic | 1 | 247587682 | 247587682 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA281423 |
single nucleotide variant | NM_001243133.2(NLRP3):c.920G>T (p.Gly307Val) | NLRP3 | Pathogenic | 1 | 247587671 | 247587671 | G | T | criteria provided, single submitter | ClinGen:CA281415 |
single nucleotide variant | NM_001243133.2(NLRP3):c.919G>C (p.Gly307Arg) | NLRP3 | Likely pathogenic | 1 | 247587670 | 247587670 | G | C | criteria provided, single submitter | ClinGen:CA16603604 |
single nucleotide variant | NM_001243133.2(NLRP3):c.914T>C (p.Leu305Pro) | NLRP3 | Pathogenic/Likely pathogenic | 1 | 247587665 | 247587665 | T | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA281403 |
single nucleotide variant | NM_001243133.2(NLRP3):c.910G>A (p.Glu304Lys) | NLRP3 | Pathogenic | 1 | 247587661 | 247587661 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA281399 |
single nucleotide variant | NM_001243133.2(NLRP3):c.908A>G (p.Asp303Gly) | NLRP3 | Pathogenic | 1 | 247587659 | 247587659 | A | G | criteria provided, single submitter | ClinGen:CA281395 |
single nucleotide variant | NM_001243133.2(NLRP3):c.907G>A (p.Asp303Asn) | NLRP3 | Pathogenic | 1 | 247587658 | 247587658 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA116796,OMIM:606416.0008 |
single nucleotide variant | NM_001243133.2(NLRP3):c.902G>A (p.Gly301Asp) | NLRP3 | Pathogenic/Likely pathogenic | 1 | 247587653 | 247587653 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA281387 |
single nucleotide variant | NM_001243133.2(NLRP3):c.790C>G (p.Leu264Val) | NLRP3 | Likely pathogenic | 1 | 247587541 | 247587541 | C | G | criteria provided, single submitter | ClinGen:CA281367 |