Deletion | NC_000001.11:g.(?_241497557)_(241519785_?)del | FH | Pathogenic | 1 | 241660857 | 241683085 | na | na | criteria provided, single submitter | - |
Deletion | NC_000001.11:g.(?_241497818)_(241519732_?)del | FH | Pathogenic | 1 | 241661118 | 241683032 | na | na | criteria provided, single submitter | - |
Deletion | NC_000001.11:g.(?_241519585)_(241519728_?)del | FH | Pathogenic | 1 | 241682885 | 241683028 | na | na | criteria provided, single submitter | - |
Duplication | NM_000143.4(FH):c.5dup (p.Tyr2Ter) | FH | Pathogenic | 1 | 241683017 | 241683018 | G | GT | criteria provided, single submitter | - |
Indel | NM_000143.4(FH):c.81delinsAT (p.Leu28fs) | FH | Likely pathogenic | 1 | 241682942 | 241682942 | G | AT | criteria provided, single submitter | ClinGen:CA658795650 |
Deletion | NM_000143.4(FH):c.120_130del (p.Ala41fs) | FH | Pathogenic | 1 | 241682893 | 241682903 | ATTCGAGCCGCG | A | criteria provided, single submitter | - |
single nucleotide variant | NM_000143.4(FH):c.127C>T (p.Arg43Ter) | FH | Pathogenic | 1 | 241682896 | 241682896 | G | A | criteria provided, single submitter | - |
single nucleotide variant | NM_000143.4(FH):c.132G>A (p.Met44Ile) | FH | Pathogenic | 1 | 241682891 | 241682891 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA323363 |
single nucleotide variant | NM_000143.4(FH):c.133-1G>A | FH | Pathogenic | 1 | 241680617 | 241680617 | C | T | criteria provided, single submitter | ClinGen:CA323663 |
Deletion | NM_000143.4(FH):c.134del (p.Ala45fs) | FH | Pathogenic | 1 | 241680615 | 241680615 | TG | T | criteria provided, single submitter | ClinGen:CA645369179 |