Insertion | NM_000143.4(FH):c.1370_1371insTCAC (p.Ala458fs) | FH | Pathogenic | 1 | 241663756 | 241663757 | T | TGTGA | criteria provided, multiple submitters, no conflicts | ClinGen:CA322840 |
single nucleotide variant | NM_000143.4(FH):c.1390+1G>T | FH | Pathogenic/Likely pathogenic | 1 | 241663736 | 241663736 | C | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA10588288,OMIM:136850.0013 |
Deletion | NM_000143.4(FH):c.1391-2del | FH | Likely pathogenic | 1 | 241661272 | 241661272 | CT | C | criteria provided, single submitter | ClinGen:CA16617113 |
single nucleotide variant | NM_000143.4(FH):c.1391-2A>T | FH | Pathogenic | 1 | 241661272 | 241661272 | T | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA323468 |
single nucleotide variant | NM_000143.4(FH):c.1391-1G>A | FH | Pathogenic | 1 | 241661271 | 241661271 | C | T | criteria provided, single submitter | ClinGen:CA16610035 |
single nucleotide variant | NM_000143.4(FH):c.1391-1G>C | FH | Pathogenic | 1 | 241661271 | 241661271 | C | G | criteria provided, multiple submitters, no conflicts | ClinGen:CA320963 |
single nucleotide variant | NM_000143.4(FH):c.1394A>G (p.Tyr465Cys) | FH | Pathogenic/Likely pathogenic | 1 | 241661267 | 241661267 | T | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA321656 |
Duplication | NM_000143.4(FH):c.1400dup (p.Ala468fs) | FH | Pathogenic | 1 | 241661260 | 241661261 | C | CT | criteria provided, multiple submitters, no conflicts | ClinGen:CA324743 |
single nucleotide variant | NM_000143.4(FH):c.1435G>T (p.Gly479Ter) | FH | Pathogenic | 1 | 241661226 | 241661226 | C | A | criteria provided, single submitter | - |
Duplication | NM_000143.4(FH):c.1430_1437dup (p.Ser480fs) | FH | Pathogenic | 1 | 241661223 | 241661224 | A | ATCCATTTT | criteria provided, multiple submitters, no conflicts | ClinGen:CA323758 |