Deletion | NM_000190.4(HMBS):c.400del (p.Thr133_Leu134insTer) | HMBS | Pathogenic | 11 | 118960753 | 118960753 | AC | A | criteria provided, single submitter | ClinGen:CA16043455 |
single nucleotide variant | NM_000190.4(HMBS):c.583C>T (p.Arg195Cys) | HMBS | Pathogenic | 11 | 118962207 | 118962207 | C | T | criteria provided, single submitter | ClinGen:CA272877,UniProtKB:P08397#VAR_003656 |
single nucleotide variant | NM_000190.4(HMBS):c.445C>T (p.Arg149Ter) | HMBS | Pathogenic | 11 | 118960922 | 118960922 | C | T | criteria provided, multiple submitters, no conflicts | OMIM:609806.0046,ClinGen:CA251845 |
single nucleotide variant | NM_000190.4(HMBS):c.849G>A (p.Trp283Ter) | HMBS | Pathogenic | 11 | 118963668 | 118963668 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA251840,OMIM:609806.0043 |
single nucleotide variant | NM_000190.4(HMBS):c.647G>A (p.Gly216Asp) | HMBS | Pathogenic | 11 | 118962869 | 118962869 | G | A | criteria provided, single submitter | ClinGen:CA251838,UniProtKB:P08397#VAR_011015,OMIM:609806.0038 |
single nucleotide variant | NM_000190.4(HMBS):c.913-1G>A | HMBS | Pathogenic | 11 | 118963819 | 118963819 | G | A | criteria provided, single submitter | OMIM:609806.0036 |
single nucleotide variant | NM_000190.4(HMBS):c.530T>G (p.Leu177Arg) | HMBS | Pathogenic | 11 | 118962154 | 118962154 | T | G | criteria provided, single submitter | OMIM:609806.0025,ClinGen:CA251824,UniProtKB:P08397#VAR_003655 |
single nucleotide variant | NM_000190.4(HMBS):c.499-1G>A | HMBS | Pathogenic | 11 | 118962122 | 118962122 | G | A | criteria provided, single submitter | OMIM:609806.0024 |
single nucleotide variant | NM_000190.4(HMBS):c.499C>T (p.Arg167Trp) | HMBS | Pathogenic | 11 | 118962123 | 118962123 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA251813,UniProtKB:P08397#VAR_003652,OMIM:609806.0013 |
single nucleotide variant | NM_000190.4(HMBS):c.518G>A (p.Arg173Gln) | HMBS | Pathogenic | 11 | 118962142 | 118962142 | G | A | criteria provided, single submitter | ClinGen:CA251797,UniProtKB:P08397#VAR_003653,OMIM:609806.0006 |