NM_001077182.2(FSCN2):c.72delG (p.Thr25Glnfs) | 25794 | FSCN2 | Likely benign;Pathogenic;Uncertain significance | 376633374 | RCV000003079; RCV000144473; RCV000132615; | N | MedGen:C0339527, Orphanet:ORPHA65,SNOMED CT:193413001; MedGen:C1842816,OMIM:607921; MedGen:CN221809 | 17 | 79495629 | 79495629 | NM_001077182.2:c.72delG | NP_001070650.1:p.Thr25Glnfs | NC_000017.10:g.79495629delG | OMIM Allelic Variant:607643.0001 | C0339527 Leber's amaurosis; CN221809 not provided; C1842816 607921 Retinitis pigmentosa 30 | | |