single nucleotide variant | NM_000257.4(MYH7):c.5380C>A (p.Gln1794Lys) | MYH7 | Likely pathogenic | 14 | 23884383 | 23884383 | G | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA016031 |
single nucleotide variant | NM_000257.4(MYH7):c.5398G>C (p.Ala1800Pro) | MYH7 | Likely pathogenic | 14 | 23884365 | 23884365 | C | G | criteria provided, single submitter | ClinGen:CA016063 |
single nucleotide variant | NM_000257.4(MYH7):c.5401G>A (p.Glu1801Lys) | MYH7 | Likely pathogenic | 14 | 23884362 | 23884362 | C | T | reviewed by expert panel | ClinGen:CA016087 |
single nucleotide variant | NM_000257.4(MYH7):c.5560-2A>C | MYH7 | Likely pathogenic | 14 | 23883313 | 23883313 | T | G | criteria provided, single submitter | - |
single nucleotide variant | NM_000257.4(MYH7):c.5594A>C (p.Gln1865Pro) | MYH7 | Pathogenic | 14 | 23883277 | 23883277 | T | G | criteria provided, single submitter | - |
single nucleotide variant | NM_000257.4(MYH7):c.5655G>A (p.Ala1885=) | MYH7 | Pathogenic/Likely pathogenic | 14 | 23883216 | 23883216 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA16606815 |
Deletion | NM_000257.4(MYH7):c.5659del (p.Glu1887fs) | MYH7 | Likely pathogenic | 14 | 23883099 | 23883099 | TC | T | criteria provided, single submitter | ClinGen:CA016354 |
single nucleotide variant | NM_000257.4(MYH7):c.5717C>G (p.Ala1906Gly) | MYH7 | Likely pathogenic | 14 | 23883041 | 23883041 | G | C | criteria provided, single submitter | ClinGen:CA016404 |
single nucleotide variant | NM_000257.4(MYH7):c.5740G>A (p.Glu1914Lys) | MYH7 | Likely pathogenic | 14 | 23883018 | 23883018 | C | T | reviewed by expert panel | ClinGen:CA016441 |
Indel | NM_000257.4(MYH7):c.5741_5744delinsT (p.Glu1914_Ser1915delinsVal) | MYH7 | Likely pathogenic | 14 | 23883014 | 23883017 | GACT | A | criteria provided, single submitter | ClinGen:CA351898 |