single nucleotide variant | NM_024334.3(TMEM43):c.1073C>T (p.Ser358Leu) | TMEM43 | Pathogenic | 3 | 14183165 | 14183165 | C | T | criteria provided, multiple submitters, no conflicts | OMIM:612048.0001,ClinGen:CA024568,UniProtKB:Q9BTV4#VAR_044438 |
single nucleotide variant | NM_182914.3(SYNE2):c.4397G>A (p.Arg1466Gln) | SYNE2 | Likely pathogenic | 14 | 64470048 | 64470048 | G | A | criteria provided, single submitter | ClinGen:CA16621659 |
Deletion | NM_001159699.2(FHL1):c.108del (p.Gln37fs) | FHL1 | Pathogenic | X | 135288651 | 135288651 | TG | T | criteria provided, single submitter | ClinGen:CA16616433 |
single nucleotide variant | NM_001159699.2(FHL1):c.261C>A (p.Cys87Ter) | FHL1 | Pathogenic/Likely pathogenic | X | 135289231 | 135289231 | C | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA10606517 |
Duplication | NM_001159699.2(FHL1):c.360dup (p.Phe121fs) | FHL1 | Pathogenic | X | 135289329 | 135289330 | G | GC | criteria provided, single submitter | ClinGen:CA658799873 |
Duplication | NM_001159699.2(FHL1):c.406_409dup (p.Val137fs) | FHL1 | Pathogenic | X | 135289975 | 135289976 | G | GGACC | criteria provided, multiple submitters, no conflicts | - |
single nucleotide variant | NM_001159699.2(FHL1):c.413G>C (p.Trp138Ser) | FHL1 | Pathogenic | X | 135289984 | 135289984 | G | C | criteria provided, single submitter | ClinGen:CA210529,UniProtKB:Q13642#VAR_042603,OMIM:300163.0001 |
single nucleotide variant | NM_001159699.2(FHL1):c.416A>G (p.His139Arg) | FHL1 | Pathogenic | X | 135289987 | 135289987 | A | G | criteria provided, single submitter | ClinGen:CA414608363 |
single nucleotide variant | NM_001159699.2(FHL1):c.417C>G (p.His139Gln) | FHL1 | Pathogenic | X | 135289988 | 135289988 | C | G | criteria provided, single submitter | ClinGen:CA121571,UniProtKB:Q13642#VAR_075354,OMIM:300163.0016 |
Deletion | NM_001159699.2(FHL1):c.466_470del (p.Ser156fs) | FHL1 | Pathogenic | X | 135290037 | 135290041 | AAGCTT | A | criteria provided, single submitter | ClinGen:CA658659045 |