NM_000326.4(RLBP1):c.700C>T (p.Arg234Trp) | 6017 | RLBP1 | Pathogenic | 28933990 | RCV000013979; RCV000013978; | N | MedGen:C1405854; MedGen:C1843816,OMIM:607475,ORPHA:85128 | 15 | 89754025 | 89754025 | NM_000326.4:c.700C>T | NP_000317.1:p.Arg234Trp | NC_000015.9:g.89754025G>A | OMIM Allelic Variant:180090.0004 | C1843816 607475 Bothnia retinal dystrophy; C1405854 Retinitis punctata albescens | | |
NM_000326.4(RLBP1):c.286_297delTTCCTGCGCTTC (p.Phe96_Phe99del) | 6017 | RLBP1 | Likely pathogenic | 786205626 | RCV000197318; RCV000171480; | N | MedGen:C1843816,OMIM:607475,ORPHA:85128; MedGen:CN221809 | 15 | 89760400 | 89760411 | NM_000326.4:c.286_297delTTCCTGCGCTTC | NP_000317.1:p.Phe96_Phe99del | NC_000015.9:g.89760400_89760411delGAAGCGCAGGAA | - | C1843816 607475 Bothnia retinal dystrophy; CN221809 not provided | | |