Deletion | NM_000190.4(HMBS):c.669_698del (p.Glu223_Leu232del) | HMBS | Pathogenic | 11 | 118963127 | 118963156 | GTGGAAGTGCGAGCCAAGGACCAGGACATCT | G | criteria provided, single submitter | ClinGen:CA658797819 |
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 |
Deletion | NM_000190.4(HMBS):c.623_624del (p.Pro208fs) | HMBS | Pathogenic | 11 | 118962845 | 118962846 | CCT | C | criteria provided, single submitter | - |
single nucleotide variant | NM_000190.4(HMBS):c.612+1G>A | HMBS | Pathogenic | 11 | 118962237 | 118962237 | G | A | criteria provided, single submitter | - |
single nucleotide variant | NM_000190.4(HMBS):c.612G>T (p.Gln204His) | HMBS | Pathogenic | 11 | 118962236 | 118962236 | G | T | criteria provided, single submitter | OMIM:609806.0011 |
single nucleotide variant | NM_000190.4(HMBS):c.601C>T (p.Arg201Trp) | HMBS | Pathogenic/Likely pathogenic | 11 | 118962225 | 118962225 | C | T | criteria provided, multiple submitters, no conflicts | OMIM:609806.0026,ClinGen:CA251820,UniProtKB:P08397#VAR_003657 |
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 |
Duplication | NM_000190.4(HMBS):c.544dup (p.Glu182fs) | HMBS | Pathogenic | 11 | 118962166 | 118962167 | A | AG | criteria provided, single submitter | - |
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.518G>A (p.Arg173Gln) | HMBS | Pathogenic | 11 | 118962142 | 118962142 | G | A | criteria provided, single submitter | ClinGen:CA251797,UniProtKB:P08397#VAR_003653,OMIM:609806.0006 |