single nucleotide variant | NM_001267550.2(TTN):c.66464-2A>G | TTN | Likely pathogenic | 2 | 179446533 | 179446533 | T | C | criteria provided, multiple submitters, no conflicts | - |
single nucleotide variant | NM_001267550.2(TTN):c.51436+1G>T | TTN | Pathogenic | 2 | 179474816 | 179474816 | C | A | criteria provided, single submitter | - |
single nucleotide variant | NM_001267550.2(TTN):c.89197+2T>G | TTN | Likely pathogenic | 2 | 179418639 | 179418639 | A | C | criteria provided, single submitter | - |
Indel | NM_001267550.2(TTN):c.54314_54381+139delinsATAAGG | TTN | Likely pathogenic | 2 | 179469296 | 179469502 | AAACACTACAATAACAAAATAACAGCTTATCGTGTGTGGTTTTGAGTTTAATTATCAAATTCCAAGGTTATATTAAAATGGCATCAAACCAGAGTCATGTACTTTTAATGTGTATAAGAAAATATTCAGAAGAGTTTACCCCATATCTTTTCTCTACAGCAGTGTTGGTGACTTCCTCCCATTCTGCTTTCTTCCTACTTGCATCAC | CCTTAT | criteria provided, single submitter | - |
single nucleotide variant | NM_001267550.2(TTN):c.88895-1G>A | TTN | Likely pathogenic | 2 | 179418944 | 179418944 | C | T | criteria provided, single submitter | - |
Duplication | NM_001267550.2(TTN):c.48542dup (p.Asn16181fs) | TTN | Likely pathogenic | 2 | 179480129 | 179480130 | A | AT | criteria provided, single submitter | - |
Duplication | NM_001267550.2(TTN):c.51244dup (p.Tyr17082fs) | TTN | Pathogenic | 2 | 179475008 | 179475009 | T | TA | criteria provided, single submitter | - |
Deletion | NM_001267550.2(TTN):c.51986_51987del (p.Lys17329fs) | TTN | Likely pathogenic | 2 | 179474050 | 179474051 | CCT | C | criteria provided, single submitter | - |
Duplication | NM_001267550.2(TTN):c.53703dup (p.Arg17902fs) | TTN | Likely pathogenic | 2 | 179470318 | 179470319 | G | GT | criteria provided, single submitter | - |
single nucleotide variant | NM_001267550.2(TTN):c.54387G>A (p.Trp18129Ter) | TTN | Likely pathogenic | 2 | 179469027 | 179469027 | C | T | criteria provided, single submitter | - |