Type | Name | Gene Symbol | Clinical Significance | Chromosome | Start | Stop | Reference Allele | Alternate Allele | Review Status | Other IDs |
---|---|---|---|---|---|---|---|---|---|---|
(GRCh37) | ||||||||||
Deletion | NM_198576.4(AGRN):c.902_912del (p.Arg301fs) | AGRN | Pathogenic | 1 | 976719 | 976729 | TCCTGCGCCGCG | T | criteria provided, single submitter | - |
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 |