single nucleotide variant | NM_173660.5(DOK7):c.437C>T (p.Pro146Leu) | DOK7 | Pathogenic | 4 | 3478174 | 3478174 | C | T | criteria provided, multiple submitters, no conflicts | - |
single nucleotide variant | NM_173660.5(DOK7):c.331+1G>T | DOK7 | Pathogenic | 4 | 3475364 | 3475364 | G | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA356113804,OMIM:610285.0009 |
Deletion | NM_173660.5(DOK7):c.28del (p.Gln10fs) | DOK7 | Pathogenic | 4 | 3465129 | 3465129 | GC | G | criteria provided, multiple submitters, no conflicts | - |
Deletion | NC_000001.11:g.(?_1020153)_(1313808_?)del | AGRN | Pathogenic | 1 | 955533 | 1249188 | na | na | criteria provided, single submitter | - |
Duplication | NM_198576.4(AGRN):c.5312dup (p.Ser1772fs) | AGRN | Likely pathogenic | 1 | 986689 | 986690 | C | CT | criteria provided, single submitter | ClinGen:CA658795341 |
single nucleotide variant | NM_198576.4(AGRN):c.5179G>T (p.Val1727Phe) | AGRN | Likely pathogenic | 1 | 986143 | 986143 | G | T | criteria provided, single submitter | ClinGen:CA151196,OMIM:103320.0002 |
single nucleotide variant | NM_198576.4(AGRN):c.4621C>T (p.Arg1541Ter) | AGRN | Likely pathogenic | 1 | 985052 | 985052 | C | T | criteria provided, single submitter | ClinGen:CA337778755 |
single nucleotide variant | NM_198576.4(AGRN):c.1275C>G (p.Tyr425Ter) | AGRN | Pathogenic | 1 | 977433 | 977433 | C | G | criteria provided, single submitter | - |
Duplication | NM_198576.4(AGRN):c.1036_1039dup (p.Glu347fs) | AGRN | Pathogenic | 1 | 976939 | 976940 | G | GGCCC | criteria provided, single submitter | - |
Deletion | NM_198576.4(AGRN):c.914_947del (p.Arg305fs) | AGRN | Pathogenic | 1 | 976735 | 976768 | CGCCCGCCAGGAGAATGTCTTCAAGAAGTTCGACG | C | criteria provided, single submitter | - |