Deletion | NM_000190.4(HMBS):c.323del (p.Phe108fs) | HMBS | Pathogenic | 11 | 118960448 | 118960448 | CT | C | criteria provided, single submitter | - |
single nucleotide variant | NM_000190.4(HMBS):c.299T>C (p.Leu100Pro) | HMBS | Likely pathogenic | 11 | 118960425 | 118960425 | T | 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.104C>T (p.Thr35Met) | HMBS | Likely pathogenic | 11 | 118959361 | 118959361 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA229593101 |
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.77G>A (p.Arg26His) | HMBS | Pathogenic | 11 | 118959008 | 118959008 | G | A | criteria provided, single submitter | UniProtKB:P08397#VAR_003639,OMIM:609806.0015,ClinGen:CA251791 |
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 | - |
single nucleotide variant | NM_000190.4(HMBS):c.33+1G>T | HMBS | Pathogenic | 11 | 118955777 | 118955777 | G | T | criteria provided, single submitter | OMIM:609806.0003 |
single nucleotide variant | NM_000190.4(HMBS):c.33+1G>A | HMBS | Pathogenic | 11 | 118955777 | 118955777 | G | A | criteria provided, single submitter | OMIM:609806.0001 |