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.612G>T (p.Gln204His) | HMBS | Pathogenic | 11 | 118962236 | 118962236 | G | T | criteria provided, single submitter | OMIM:609806.0011 |
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.457C>T (p.Gln153Ter) | HMBS | Pathogenic | 11 | 118960934 | 118960934 | C | T | criteria provided, single submitter | - |
Deletion | NM_000190.4(HMBS):c.323del (p.Phe108fs) | HMBS | Pathogenic | 11 | 118960448 | 118960448 | CT | C | criteria provided, single submitter | - |
Deletion | NM_000190.4(HMBS):c.168_169del (p.Met56fs) | HMBS | Pathogenic | 11 | 118959798 | 118959799 | ATG | A | criteria provided, single submitter | - |
single nucleotide variant | NM_000190.4(HMBS):c.77G>T (p.Arg26Leu) | HMBS | Pathogenic | 11 | 118959008 | 118959008 | G | T | criteria provided, single submitter | - |
single nucleotide variant | NM_000190.4(HMBS):c.76C>T (p.Arg26Cys) | HMBS | Pathogenic | 11 | 118959007 | 118959007 | C | T | criteria provided, multiple submitters, no conflicts | - |
Deletion | NM_000190.4(HMBS):c.1078_*46del (p.Ala360fs) | HMBS | Pathogenic | 11 | 118963984 | 118964038 | ATGCCCATTAACTGGTTTGTGGGGCACAGATGCCTGGGTTGCTGCTGTCCAGTGCC | A | criteria provided, single submitter | - |
Deletion | NM_000190.4(HMBS):c.669_698del (p.Glu223_Leu232del) | HMBS | Pathogenic | 11 | 118963127 | 118963156 | GTGGAAGTGCGAGCCAAGGACCAGGACATCT | G | criteria provided, single submitter | ClinGen:CA658797819 |