single nucleotide variant | NM_170707.4(LMNA):c.877C>T (p.Gln293Ter) | LMNA | Pathogenic | 1 | 156105044 | 156105044 | C | T | criteria provided, single submitter | ClinGen:CA342817717 |
Deletion | NM_170707.4(LMNA):c.1436del (p.Leu479fs) | LMNA | Pathogenic/Likely pathogenic | 1 | 156106767 | 156106767 | CT | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA658656966 |
single nucleotide variant | NM_170707.4(LMNA):c.936+1G>A | LMNA | Pathogenic | 1 | 156105104 | 156105104 | G | A | criteria provided, single submitter | ClinGen:CA342818117 |
single nucleotide variant | NM_020451.3(SELENON):c.665G>A (p.Trp222Ter) | SELENON | Pathogenic | 1 | 26135198 | 26135198 | G | A | criteria provided, single submitter | ClinGen:CA339112027 |
single nucleotide variant | NM_020451.3(SELENON):c.1406G>A (p.Arg469Gln) | SELENON | Pathogenic/Likely pathogenic | 1 | 26140390 | 26140390 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA19699053 |
single nucleotide variant | NM_020451.3(SELENON):c.2T>G (p.Met1Arg) | SELENON | Pathogenic | 1 | 26126723 | 26126723 | T | G | criteria provided, single submitter | ClinGen:CA339105612 |
single nucleotide variant | NM_020451.3(SELENON):c.1469G>A (p.Trp490Ter) | SELENON | Pathogenic/Likely pathogenic | 1 | 26140453 | 26140453 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA19699056 |
Deletion | NC_000002.12:g.(?_237362747)_(237372158_?)del | COL6A3 | Likely pathogenic | 2 | 238271390 | 238280801 | na | na | criteria provided, single submitter | - |
single nucleotide variant | NM_004369.4(COL6A3):c.2620C>T (p.Arg874Ter) | COL6A3 | Pathogenic | 2 | 238285865 | 238285865 | G | A | criteria provided, single submitter | ClinGen:CA351211117 |
single nucleotide variant | NM_004369.4(COL6A3):c.7331G>C (p.Arg2444Pro) | COL6A3 | Likely pathogenic | 2 | 238253330 | 238253330 | C | G | criteria provided, single submitter | ClinGen:CA351203731 |