Deletion | NC_000014.9:g.(?_65101536)_(65102349_?)del | MAX | Pathogenic | 14 | 65568254 | 65569067 | na | na | criteria provided, single submitter | - |
Deletion | NM_002382.5(MAX):c.120del (p.Asp41fs) | MAX | Pathogenic | 14 | 65560477 | 65560477 | CT | C | criteria provided, single submitter | - |
single nucleotide variant | NM_002382.5(MAX):c.289C>T (p.Gln97Ter) | MAX | Pathogenic/Likely pathogenic | 14 | 65544637 | 65544637 | G | A | criteria provided, multiple submitters, no conflicts | - |
Deletion | NM_002382.5(MAX):c.228del (p.Asn78fs) | MAX | Pathogenic | 14 | 65544698 | 65544698 | TC | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA658798225 |
single nucleotide variant | NM_002382.5(MAX):c.219T>A (p.Tyr73Ter) | MAX | Pathogenic | 14 | 65544707 | 65544707 | A | T | criteria provided, single submitter | ClinGen:CA390035784 |
Duplication | NM_002382.5(MAX):c.98dup (p.Arg35fs) | MAX | Pathogenic | 14 | 65560498 | 65560499 | T | TC | criteria provided, single submitter | ClinGen:CA658658264 |
Deletion | NC_000014.9:g.(?_65093702)_(65102345_?)del | MAX | Pathogenic | 14 | 65560420 | 65569063 | na | na | criteria provided, single submitter | - |
Deletion | NM_002382.5(MAX):c.211_221del (p.Ile71fs) | MAX | Pathogenic | 14 | 65544705 | 65544715 | CATATACTGGAT | C | criteria provided, single submitter | ClinGen:CA16614204 |
Deletion | NC_000014.9:g.(?_65101546)_(65102544_?)del | MAX | Pathogenic | 14 | 65568264 | 65569262 | na | na | criteria provided, single submitter | - |
single nucleotide variant | NM_002382.5(MAX):c.212T>A (p.Ile71Asn) | MAX | Likely pathogenic | 14 | 65544714 | 65544714 | A | T | criteria provided, single submitter | ClinGen:CA10579867 |