single nucleotide variant | NM_001159699.2(FHL1):c.497G>A (p.Cys166Tyr) | FHL1 | Pathogenic | X | 135290068 | 135290068 | G | A | criteria provided, single submitter | ClinGen:CA121552,UniProtKB:Q13642#VAR_075356,OMIM:300163.0008 |
single nucleotide variant | NM_001159699.2(FHL1):c.505T>C (p.Cys169Arg) | FHL1 | Likely pathogenic | X | 135290076 | 135290076 | T | C | criteria provided, single submitter | ClinGen:CA121548,UniProtKB:Q13642#VAR_046001,OMIM:300163.0006 |
Deletion | NM_001159699.2(FHL1):c.525del (p.Lys176fs) | FHL1 | Likely pathogenic | X | 135290095 | 135290095 | GC | G | criteria provided, single submitter | ClinGen:CA16621206 |
single nucleotide variant | NM_001159699.2(FHL1):c.550-2A>G | FHL1 | Pathogenic | X | 135290612 | 135290612 | A | G | criteria provided, single submitter | ClinGen:CA414608683,OMIM:300163.0018 |
single nucleotide variant | NM_001159699.2(FHL1):c.576C>A (p.Tyr192Ter) | FHL1 | Likely pathogenic | X | 135290640 | 135290640 | C | A | criteria provided, single submitter | - |
Duplication | NM_001159699.2(FHL1):c.661dup (p.Asp221fs) | FHL1 | Pathogenic/Likely pathogenic | X | 135290723 | 135290724 | A | AG | criteria provided, multiple submitters, no conflicts | ClinGen:CA658799874 |
Duplication | NM_001159699.2(FHL1):c.670_671dup (p.Cys225fs) | FHL1 | Likely pathogenic | X | 135290733 | 135290734 | T | TTA | criteria provided, single submitter | - |
single nucleotide variant | NM_001159699.2(FHL1):c.720C>G (p.Cys240Trp) | FHL1 | Pathogenic/Likely pathogenic | X | 135290784 | 135290784 | C | G | criteria provided, multiple submitters, no conflicts | ClinGen:CA255927,UniProtKB:Q13642#VAR_042605,OMIM:300163.0002 |
Duplication | NM_001159699.2(FHL1):c.841_844dup (p.Phe282fs) | FHL1 | Pathogenic/Likely pathogenic | X | 135292130 | 135292131 | C | CTTTG | criteria provided, multiple submitters, no conflicts | - |
single nucleotide variant | NM_182961.4(SYNE1):c.26236C>T (p.Arg8746Ter) | SYNE1 | Pathogenic | 6 | 152443729 | 152443729 | G | A | criteria provided, single submitter | OMIM:608441.0019 |