Deletion | NM_000190.4(HMBS):c.716del (p.His239fs) | HMBS | Pathogenic | 11 | 118963178 | 118963178 | CA | C | criteria provided, single submitter | - |
single nucleotide variant | NM_000190.4(HMBS):c.719A>G (p.Asp240Gly) | HMBS | Pathogenic | 11 | 118963181 | 118963181 | A | G | criteria provided, single submitter | - |
single nucleotide variant | NM_000190.4(HMBS):c.345-1G>A | HMBS | Pathogenic | 11 | 118960699 | 118960699 | G | A | 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.500G>A (p.Arg167Gln) | HMBS | Pathogenic/Likely pathogenic | 11 | 118962124 | 118962124 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA251795,UniProtKB:P08397#VAR_003651,OMIM:609806.0005 |
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.331G>A (p.Gly111Arg) | HMBS | Pathogenic/Likely pathogenic | 11 | 118960457 | 118960457 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA251822,UniProtKB:P08397#VAR_003645,OMIM:609806.0023 |
single nucleotide variant | NM_000190.4(HMBS):c.517C>T (p.Arg173Trp) | HMBS | Pathogenic/Likely pathogenic | 11 | 118962141 | 118962141 | C | T | criteria provided, multiple submitters, no conflicts | - |
single nucleotide variant | NM_000190.4(HMBS):c.874C>T (p.Gln292Ter) | HMBS | Pathogenic/Likely pathogenic | 11 | 118963693 | 118963693 | C | T | criteria provided, multiple submitters, no conflicts | - |