single nucleotide variant | NM_000143.4(FH):c.139C>T (p.Gln47Ter) | FH | Pathogenic | 1 | 241680610 | 241680610 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA324825 |
single nucleotide variant | NM_000143.4(FH):c.152G>C (p.Arg51Pro) | FH | Likely pathogenic | 1 | 241680597 | 241680597 | C | G | criteria provided, single submitter | - |
single nucleotide variant | NM_000143.4(FH):c.157G>T (p.Glu53Ter) | FH | Pathogenic | 1 | 241680592 | 241680592 | C | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA16609380 |
single nucleotide variant | NM_000143.4(FH):c.175G>T (p.Glu59Ter) | FH | Pathogenic | 1 | 241680574 | 241680574 | C | A | criteria provided, multiple submitters, no conflicts | - |
Duplication | NM_000143.4(FH):c.174_177dup (p.Leu60Ter) | FH | Pathogenic | 1 | 241680571 | 241680572 | G | GTTCA | criteria provided, multiple submitters, no conflicts | ClinGen:CA645369175 |
Duplication | NM_000143.4(FH):c.185_188dup (p.Asn64fs) | FH | Pathogenic | 1 | 241680560 | 241680561 | T | TGGCA | criteria provided, single submitter | - |
single nucleotide variant | NM_000143.4(FH):c.201T>G (p.Tyr67Ter) | FH | Pathogenic | 1 | 241680548 | 241680548 | A | C | criteria provided, multiple submitters, no conflicts | - |
single nucleotide variant | NM_000143.4(FH):c.204T>A (p.Tyr68Ter) | FH | Pathogenic | 1 | 241680545 | 241680545 | A | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA16610089 |
Duplication | NM_000143.4(FH):c.221dup (p.Ser75fs) | FH | Pathogenic | 1 | 241680527 | 241680528 | T | TC | criteria provided, single submitter | ClinGen:CA658795648 |
Duplication | NM_000143.4(FH):c.237dup (p.Lys80Ter) | FH | Pathogenic | 1 | 241680511 | 241680512 | T | TA | criteria provided, multiple submitters, no conflicts | ClinGen:CA658657002 |