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.226G>A (p.Gly76Ser) | AGRN | Likely pathogenic | 1 | 957605 | 957605 | G | A | criteria provided, single submitter | ClinGen:CA507784 |
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 |
Duplication | NM_198576.4(AGRN):c.5312dup (p.Ser1772fs) | AGRN | Likely pathogenic | 1 | 986689 | 986690 | C | CT | criteria provided, single submitter | ClinGen:CA658795341 |
Deletion | NC_000001.11:g.(?_1020153)_(1313808_?)del | AGRN | Pathogenic | 1 | 955533 | 1249188 | na | na | 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 | - |
Deletion | NM_198576.4(AGRN):c.902_912del (p.Arg301fs) | AGRN | Pathogenic | 1 | 976719 | 976729 | TCCTGCGCCGCG | T | 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 | - |
single nucleotide variant | NM_198576.4(AGRN):c.1275C>G (p.Tyr425Ter) | AGRN | Pathogenic | 1 | 977433 | 977433 | C | G | criteria provided, single submitter | - |
single nucleotide variant | NM_000751.3(CHRND):c.866C>T (p.Ser289Phe) | CHRND | Likely pathogenic | 2 | 233396107 | 233396107 | C | T | criteria provided, single submitter | ClinGen:CA128062,UniProtKB:Q07001#VAR_019566,OMIM:100720.0001 |