CRB1 (Protein crumbs homolog 1) variants and mutations
CRB1 (also known as Protein crumbs homolog 1) is a human protein-coding gene encoding a protein crumbs homolog 1 protein. It helps maintain apical polarity and structural organization of photoreceptors and Muller glia in the retina. Biallelic pathogenic variants cause inherited retinal dystrophies including Leber congenital amaurosis and retinitis pigmentosa. This analysis covers 2,551 CRB1 variants and mutations. Of these, 83% have computational variant effect predictions. Disease context includes Leber congenital amaurosis 8, retinitis pigmentosa 12, and Leber congenital amaurosis. Example CRB1 variants include M1?, A2T, and A2E.
Variant analysis overview
- Gene: CRB1
- Protein: Protein crumbs homolog 1
- UniProt accession: P82279
- Organism: Homo sapiens
- Variants analyzed: 2551
- Variant scope: all variants
- Completed: 2026-08-18
Variant and mutation evidence
- Variant composition: 2,291 unspecified-consequence records; 1 natural variant; 122 missense variants; 109 synonymous variants; 19 frameshift variants; 3 in-frame deletions; 5 stop-gained variants; 1 splice-region variants
- Prediction scores: 2,127 variants have prediction scores (83% of the analyzed set).
Clinical, disease, and population context
- Disease context: 25 disease associations are represented. Top associations: Leber congenital amaurosis 8, retinitis pigmentosa 12, Leber congenital amaurosis, pigmented paravenous retinochoroidal atrophy, retinitis pigmentosa, Macular dystrophy, Retinal dystrophy, hereditary macular dystrophy, Leber congenital amaurosis 1, autosomal recessive retinitis pigmentosa, Cone rod dystrophy, cone-rod dystrophy.
Protein structure and variant hotspots
- Protein features: 1 transmembrane segments; 22 domains; 23 post-translational modification sites.
- Structural context: 2,345 variants have structural context.
- PTM context: 40 variants overlap post-translational modification sites.
Data sources
Evidence in this analysis draws on EBI Proteins Variation, UniProt, gnomAD v4, EuropePMC, 3D Hotspot Analysis, Interaction Network Analysis, AlphaFold DB, gnomAD constraint, Open Targets, MaveDB, LitVar.
Notable CRB1 variants
Examples include M1?, A2T, A2E, A2A, L3F, K4*, K4N, N5S. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.
- M1?, NCI-TCGA Cosmic COSV6634, cosmic curated COSV66348, Variant assessed as somatic; high impact.
- A2T (p.Ala2Thr), rs1203732030, ClinGen CA344082247, ClinVar RCV001990881, TOPMed rs1203732030, REVEL 0.15, MetaLR 0.38, Uncertain significance, Retinitis pigmentosa 12; Leber congenital amaurosis 8
- A2E (p.Ala2Glu), gnomAD 1-197268417-C-A, REVEL 0.16, MetaLR 0.36
- A2A (p.Ala2Ala), gnomAD 1-197268418-A-C, CADD 6.21
- L3F (p.Leu3Phe), 1000Genomes rs562543590, ExAC rs562543590, TOPMed rs562543590, gnomAD rs562543590, REVEL 0.23, MetaLR 0.52
- K4* (p.Lys4Ter), NCI-TCGA TCGA novel, Variant assessed as somatic; high impact.
- K4N (p.Lys4Asn), gnomAD rs1452970703, REVEL 0.15, MetaLR 0.45, Likely benign
- N5S (p.Asn5Ser), rs139427846, ClinGen CA36039963, ClinVar RCV001954770, ESP rs139427846, REVEL 0.16, MetaLR 0.33, Uncertain significance, Retinitis pigmentosa 12; Leber congenital amaurosis 8
- N5N (p.Asn5Asn), rs1184713975, gnomAD 1-197268427-C-T, CADD 3.18
- I6S (p.Ile6Ser), NCI-TCGA TCGA novel, MetaLR 0.45, MetaSVM -0.65, Variant assessed as somatic; moderate impact.
- I6I (p.Ile6Ile), gnomAD 1-197268430-T-C, CADD 2.48
- I6M (p.Ile6Met), gnomAD 1-197268430-T-G, REVEL 0.14, MetaLR 0.37
- N7D (p.Asn7Asp), TOPMed rs1654718869, MetaLR 0.37, MetaSVM -0.79
- N7I (p.Asn7Ile), TOPMed rs1267483242, gnomAD rs1267483242, REVEL 0.20, MetaLR 0.41
- N7T (p.Asn7Thr), rs2125193925, gnomAD 1-197268429-TTAAC, CADD 22.40
- Y8C (p.Tyr8Cys), gnomAD 1-197268435-A-G, REVEL 0.23, MetaLR 0.43
- Y8Y (p.Tyr8Tyr), rs1044326530, gnomAD 1-197268436-C-T, CADD 7.62
- L9I (p.Leu9Ile), Ensembl rs1654719565, MetaLR 0.57, MetaSVM -0.13
- L9F (p.Leu9Phe), gnomAD 1-197268437-C-T, REVEL 0.11, MetaLR 0.54
- L10P (p.Leu10Pro), rs201609001, ClinGen CA1311549, ClinVar RCV000658537, ClinVar RCV001477776, REVEL 0.72, MetaLR 0.75, Conflicting interpretations, Retinitis pigmentosa 12; Leber congenital amaurosis 8; not provided
- L10L (p.Leu10Leu), rs1412462070, gnomAD 1-197268442-C-T, CADD 8.85
- I11F (p.Ile11Phe), ExAC rs770876906, gnomAD rs770876906, REVEL 0.15, MetaLR 0.30
- I11L (p.Ile11Leu), gnomAD 1-197268443-A-C, REVEL 0.14, MetaLR 0.28
- p.Phe12 Tyr21del, gnomAD 1-197268444-TCTTC, CADD 18.10
- Y13C (p.Tyr13Cys), ExAC rs776429571, TOPMed rs776429571, gnomAD rs776429571, REVEL 0.20, MetaLR 0.43
- L14F (p.Leu14Phe), rs551204372, ClinGen CA1311552, ClinVar RCV003072027, 1000Genomes rs551204372, REVEL 0.42, MetaLR 0.55, Uncertain significance, Retinitis pigmentosa 12; Leber congenital amaurosis 8
- S15N (p.Ser15Asn), NCI-TCGA Cosmic COSV6634, MetaLR 0.39, MetaSVM -0.58, Variant assessed as somatic; moderate impact.
- S15S (p.Ser15Ser), gnomAD 1-197268457-T-C, CADD 9.84
- F16L (p.Phe16Leu), gnomAD 1-197268460-C-G, REVEL 0.28, MetaLR 0.34
- S17L (p.Ser17Leu), NCI-TCGA Cosmic COSV6633, cosmic curated COSV66336, REVEL 0.14, MetaLR 0.44, Variant assessed as somatic; moderate impact.
- S17* (p.Ser17Ter), gnomAD 1-197268462-C-A, CADD 35.00
- S17S (p.Ser17Ser), rs1406113977, gnomAD 1-197268463-A-G, CADD 9.88
- L18L (p.Leu18Leu), gnomAD 1-197268464-C-T, CADD 10.70
- L19F (p.Leu19Phe), gnomAD 1-197268467-C-T, REVEL 0.17, MetaLR 0.35
- L19P (p.Leu19Pro), gnomAD 1-197268468-T-C, REVEL 0.56, MetaLR 0.65
- L19L (p.Leu19Leu), gnomAD 1-197268469-T-C, CADD 9.13
- I20Y (p.Ile20Tyr), rs1343680080, gnomAD 1-197268467-C-CT, CADD 27.30
- I20V (p.Ile20Val), gnomAD 1-197268470-A-G, REVEL 0.09, MetaLR 0.41
- Y21* (p.Tyr21Ter), rs1654722291, ClinGen CA344082546, ClinVar RCV001091026, TOPMed rs1654722291, CADD 35.00, Pathogenic
- Y21C (p.Tyr21Cys), rs942887802, ClinGen CA36039965, ClinVar RCV003047546, TOPMed rs942887802, Uncertain significance, Retinitis pigmentosa 12; Leber congenital amaurosis 8
- Y21Y (p.Tyr21Tyr), gnomAD 1-197268475-C-T, CADD 11.70
- I22K (p.Ile22Lys), rs762741389, ClinGen CA1311555, ClinVar RCV001915622, ClinVar RCV005809681, REVEL 0.23, MetaLR 0.44, Uncertain significance, Inborn genetic diseases; Leber congenital amaurosis 8; Retinitis pigmentosa 12
- I22V (p.Ile22Val), ExAC rs774989883, gnomAD rs774989883, REVEL 0.15, MetaLR 0.38
- I22I (p.Ile22Ile), rs2125194017, gnomAD 1-197268478-A-T, CADD 11.20
- K23Q (p.Lys23Gln), NCI-TCGA Cosmic COSV6634, cosmic curated COSV66348, MetaLR 0.42, MetaSVM -0.65, Variant assessed as somatic; moderate impact.
- N24I (p.Asn24Ile), gnomAD 1-197328422-A-T, REVEL 0.46, MetaLR 0.58
- S25F (p.Ser25Phe), rs1171237660, gnomAD 1-197328424-TCC-T, CADD 24.90
- S25Y (p.Ser25Tyr), gnomAD 1-197328425-C-A, REVEL 0.63, MetaLR 0.74
- S25S (p.Ser25Ser), rs768441650, gnomAD 1-197328426-C-T, CADD 8.75
- C27F (p.Cys27Phe), rs1460946384, ClinGen CA344084973, ClinVar RCV001257868, ClinVar RCV003473841, REVEL 0.65, MetaLR 0.83, Pathogenic/Likely pathogenic, Retinal dystrophy; not provided; Retinitis pigmentosa 12
- C27R (p.Cys27Arg), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact., in RP12
- C27S (p.Cys27Ser), rs1460946384, ClinGen CA344084975, ClinVar RCV001257858, gnomAD rs1460946384, Pathogenic, Autosomal recessive retinitis pigmentosa
- C27C (p.Cys27Cys), gnomAD 1-197328432-C-T, CADD 9.47
- N28N (p.Asn28Asn), rs1342033464, gnomAD 1-197328435-T-C, CADD 7.82
- K29* (p.Lys29Ter), rs2465024035, ClinGen CA2740090433, ClinVar RCV003889668, Likely pathogenic
- K29I (p.Lys29Ile), NCI-TCGA TCGA novel, MetaLR 0.53, MetaSVM -0.60, Variant assessed as somatic; moderate impact.
- K29N (p.Lys29Asn), TOPMed rs1658647423, gnomAD rs1658647423, REVEL 0.37, MetaLR 0.64
- K29T (p.Lys29Thr), TOPMed rs1454321035, gnomAD rs1454321035, REVEL 0.32, MetaLR 0.55, Uncertain significance, Inborn genetic diseases
- N30I (p.Asn30Ile), ExAC rs774842265, TOPMed rs774842265, gnomAD rs774842265, REVEL 0.69, MetaLR 0.87
- N30S (p.Asn30Ser), cosmic curated COSV66337, ExAC rs774842265, TOPMed rs774842265, gnomAD rs774842265, REVEL 0.44, MetaLR 0.83
- N30T (p.Asn30Thr), rs774842265, NCI-TCGA Cosmic COSV6633, ExAC rs774842265, TOPMed rs774842265, REVEL 0.54, MetaLR 0.84, Uncertain significance, Inborn genetic diseases
- N30Y (p.Asn30Tyr), gnomAD 1-197328439-A-T, REVEL 0.66, MetaLR 0.85
- N30K (p.Asn30Lys), gnomAD 1-197328440-AC-A, CADD 23.30
- N31T (p.Asn31Thr), rs1030616952, ClinGen CA36046639, ClinVar RCV003304125, TOPMed rs1030616952, REVEL 0.14, MetaLR 0.51, Uncertain significance, Inborn genetic diseases
- N31S (p.Asn31Ser), gnomAD 1-197328443-A-G, REVEL 0.22, MetaLR 0.42
- N31K (p.Asn31Lys), gnomAD 1-197328444-C-A, REVEL 0.22, MetaLR 0.56
- T32T (p.Thr32Thr), rs1403502944, gnomAD 1-197328447-C-G, CADD 8.85
- R33G (p.Arg33Gly), rs1452416023, ClinGen CA344085013, ClinVar RCV001235620, ClinVar RCV001828875, REVEL 0.32, MetaLR 0.59, Uncertain significance, Retinitis pigmentosa 12; Leber congenital amaurosis 8
- R33K (p.Arg33Lys), rs1658648856, ClinGen CA344085015, ClinVar RCV001100636, ClinVar RCV001100637, REVEL 0.17, MetaLR 0.53, Uncertain significance, Retinitis pigmentosa; Pigmented paravenous retinochoroidal atrophy; Leber congen
- R33S (p.Arg33Ser), rs59691602, ClinGen CA228954, cosmic curated COSV99054, ClinVar RCV000087005, REVEL 0.21, MetaLR 0.57, Conflicting interpretations, Leber congenital amaurosis 8; Retinitis pigmentosa 12; not provided
- R33R (p.Arg33Arg), rs1452416023, gnomAD 1-197328448-A-C, CADD 10.30
- C34W (p.Cys34Trp), Ensembl rs2125303585, REVEL 0.77, MetaLR 0.96, Likely benign
- C34Y (p.Cys34Tyr), TOPMed rs916428055, gnomAD rs916428055, REVEL 0.84, MetaLR 0.97
- C34R (p.Cys34Arg), gnomAD 1-197328451-T-C, REVEL 0.85, MetaLR 0.97
- C34F (p.Cys34Phe), gnomAD 1-197328452-G-T, REVEL 0.84, MetaLR 0.98
- L35P (p.Leu35Pro), rs1158559936, ClinGen CA344085029, ClinVar RCV002273428, TOPMed rs1158559936, Uncertain significance, not provided
- L35R (p.Leu35Arg), NCI-TCGA TCGA novel, MetaLR 0.64, MetaSVM -0.11, Variant assessed as somatic; moderate impact.
- S36* (p.Ser36Ter), rs2125303600, NCI-TCGA Cosmic COSV6633, cosmic curated COSV66339, ClinGen CA344085033, CADD 36.00, Pathogenic
- S36P (p.Ser36Pro), Ensembl rs947867411, REVEL 0.51, MetaLR 0.83
- N37Y (p.Asn37Tyr), TOPMed rs1380193935, gnomAD rs1380193935, REVEL 0.36, MetaLR 0.81
- S38Y (p.Ser38Tyr), TOPMed rs1295716280, gnomAD rs1295716280, REVEL 0.55, MetaLR 0.80
- S38L (p.Ser38Leu), rs62645750, gnomAD 1-197328461-AT-A, CADD 22.10
- S38S (p.Ser38Ser), rs2125303623, gnomAD 1-197328465-T-C, CADD 10.90
- C39* (p.Cys39Ter), rs2465024880, ClinGen CA344085056, ClinVar RCV002853215, Pathogenic
- C39F (p.Cys39Phe), TOPMed rs1306367660, gnomAD rs1306367660, REVEL 0.88, MetaLR 0.97
- C39Y (p.Cys39Tyr), NCI-TCGA Cosmic COSV6633, cosmic curated COSV66338, MetaLR 0.97, MetaSVM 1.09, Variant assessed as somatic; moderate impact.
- C39R (p.Cys39Arg), gnomAD 1-197328466-T-C, REVEL 0.81, MetaLR 0.96
- Q40R (p.Gln40Arg), ExAC rs761295842, gnomAD rs761295842, REVEL 0.35, MetaLR 0.61
- Q40Q (p.Gln40Gln), gnomAD 1-197328471-A-G, CADD 8.31
- N41S (p.Asn41Ser), TOPMed rs1046198745, REVEL 0.37, MetaLR 0.84
- N41N (p.Asn41Asn), rs766622294, gnomAD 1-197328474-C-T, CADD 7.01
- S43P (p.Ser43Pro), rs1254919944, ClinGen CA344085081, ClinVar RCV001885011, ClinVar RCV002503519, REVEL 0.70, MetaLR 0.86, Uncertain significance, Retinitis pigmentosa 12; Leber congenital amaurosis 8; Pigmented paravenous reti
- S43Y (p.Ser43Tyr), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- S43F (p.Ser43Phe), gnomAD 1-197328479-C-T, REVEL 0.60, MetaLR 0.87
- S43S (p.Ser43Ser), rs2125303659, gnomAD 1-197328480-T-A, CADD 2.78
- T44P (p.Thr44Pro), gnomAD 1-197328481-A-C, REVEL 0.53, MetaLR 0.85
- T44I (p.Thr44Ile), gnomAD 1-197328482-C-T, REVEL 0.39, MetaLR 0.74
- T44T (p.Thr44Thr), rs754232939, gnomAD 1-197328483-A-G, CADD 0.18
- C45* (p.Cys45Ter), ESP rs145141811, ExAC rs145141811, TOPMed rs145141811, gnomAD rs145141811, CADD 25.60, Uncertain significance, in RP12
- C45W (p.Cys45Trp), rs145141811, ClinGen CA1311583, cosmic curated COSV10611, ClinVar RCV000487047, REVEL 0.72, MetaLR 0.95, Uncertain significance, not provided; Retinal dystrophy; Leber congenital amaurosis 8
- K46E (p.Lys46Glu), gnomAD rs1658652034, REVEL 0.10, MetaLR 0.55, Uncertain significance, Inborn genetic diseases
- K46T (p.Lys46Thr), rs2465025276, ClinGen CA344085102, ClinVar RCV002828564, Uncertain significance, Retinitis pigmentosa 12; Leber congenital amaurosis 8
- D47G (p.Asp47Gly), rs1240979285, ClinGen CA344085111, cosmic curated COSV66349, ClinVar RCV001889074, REVEL 0.18, MetaLR 0.61, Uncertain significance, Leber congenital amaurosis 8; Retinitis pigmentosa 12
- D47N (p.Asp47Asn), gnomAD rs1558056654, REVEL 0.13, MetaLR 0.60
- D47Y (p.Asp47Tyr), NCI-TCGA Cosmic COSV6634, cosmic curated COSV66341, gnomAD rs1558056654, REVEL 0.33, MetaLR 0.78, Variant assessed as somatic; moderate impact.
- D47E (p.Asp47Glu), gnomAD 1-197328492-T-A, REVEL 0.26, MetaLR 0.69
- F48I (p.Phe48Ile), rs765448599, ClinGen CA1311584, ClinVar RCV001982268, ExAC rs765448599, REVEL 0.30, MetaLR 0.47, Uncertain significance, Retinitis pigmentosa 12; Leber congenital amaurosis 8
- S49L (p.Ser49Leu), NCI-TCGA Cosmic COSV6634, cosmic curated COSV66343, MetaLR 0.42, MetaSVM -0.56, Variant assessed as somatic; moderate impact.
- D51G (p.Asp51Gly), NCI-TCGA Cosmic COSV6634, cosmic curated COSV66348, MetaLR 0.66, MetaSVM 0.06, Variant assessed as somatic; moderate impact.
- D51Y (p.Asp51Tyr), gnomAD 1-197328502-G-T, REVEL 0.46, MetaLR 0.83
- D51D (p.Asp51Asp), gnomAD 1-197328504-C-T, CADD 1.48
- D51E (p.Asp51Glu), gnomAD 1-197328504-C-A, REVEL 0.21, MetaLR 0.76
- N52S (p.Asn52Ser), TOPMed rs1658653037, MetaLR 0.50, MetaSVM -0.54
- N52D (p.Asn52Asp), gnomAD 1-197328505-A-G, REVEL 0.13, MetaLR 0.55
- N52N (p.Asn52Asn), rs143046320, gnomAD 1-197328507-T-C, CADD 1.16
- N52K (p.Asn52Lys), gnomAD 1-197328507-T-G, REVEL 0.13, MetaLR 0.56
- D53Y (p.Asp53Tyr), NCI-TCGA Cosmic COSV1009, cosmic curated COSV10095, MetaLR 0.41, MetaSVM -0.48, Variant assessed as somatic; moderate impact.
- C54F (p.Cys54Phe), rs140428156, ClinGen CA1311586, ClinVar RCV000964696, ClinVar RCV001100639, REVEL 0.72, MetaLR 0.99, Conflicting interpretations, Retinitis pigmentosa 12; Leber congenital amaurosis 8; Pigmented paravenous reti
- C54R (p.Cys54Arg), NCI-TCGA Cosmic COSV1009, cosmic curated COSV10095, Variant assessed as somatic; moderate impact.
- C54S (p.Cys54Ser), gnomAD 1-197328512-G-C, REVEL 0.68, MetaLR 0.98
- C54C (p.Cys54Cys), rs1426861310, gnomAD 1-197328513-T-C, CADD 5.17
- S55C (p.Ser55Cys), gnomAD rs1430693263, REVEL 0.35, MetaLR 0.57
- S55P (p.Ser55Pro), ExAC rs777954761, gnomAD rs777954761, REVEL 0.11, MetaLR 0.62
- S55Y (p.Ser55Tyr), NCI-TCGA Cosmic COSV6634, cosmic curated COSV66340, Variant assessed as somatic; moderate impact.
- S55S (p.Ser55Ser), rs1358305005, gnomAD 1-197328516-T-C, CADD 3.82
- C56F (p.Cys56Phe), Ensembl rs1658654421, REVEL 0.76, MetaLR 0.98
- S57L (p.Ser57Leu), NCI-TCGA Cosmic COSV6634, cosmic curated COSV66346, MetaLR 0.61, MetaSVM -0.26, Variant assessed as somatic; moderate impact.
- D58D (p.Asp58Asp), gnomAD 1-197328525-C-T, CADD 1.65
- T59I (p.Thr59Ile), rs1284729199, ClinGen CA344085198, ClinVar RCV001369078, TOPMed rs1284729199, REVEL 0.21, MetaLR 0.49, Uncertain significance, Retinitis pigmentosa 12; Leber congenital amaurosis 8
- T59P (p.Thr59Pro), Ensembl rs74406466, MetaLR 0.50, MetaSVM -0.39
- A60T (p.Ala60Thr), rs750294087, ClinGen CA1311588, ClinVar RCV003203296, ExAC rs750294087, REVEL 0.05, MetaLR 0.45, Uncertain significance, Inborn genetic diseases
- N61D (p.Asn61Asp), gnomAD 1-197328532-A-G, REVEL 0.19, MetaLR 0.41
- L63F (p.Leu63Phe), gnomAD rs1391243067, REVEL 0.28, MetaLR 0.36
- L63S (p.Leu63Ser), TOPMed rs980680937, gnomAD rs980680937, REVEL 0.20, MetaLR 0.43
- D64H (p.Asp64His), ExAC rs779941462, gnomAD rs779941462, REVEL 0.38, MetaLR 0.73, Uncertain significance, Inborn genetic diseases
- D64Y (p.Asp64Tyr), NCI-TCGA Cosmic COSV1009, cosmic curated COSV10095, MetaLR 0.73, MetaSVM 0.50, Variant assessed as somatic; moderate impact.
- D64N (p.Asp64Asn), gnomAD 1-197328541-G-A, REVEL 0.35, MetaLR 0.69
- D66E (p.Asp66Glu), rs1658656188, gnomAD 1-197328543-C-CAA, CADD 23.40
- C67* (p.Cys67Ter), Ensembl rs1658656722, Likely pathogenic
- C67R (p.Cys67Arg), Ensembl rs1571847873, REVEL 0.74, MetaLR 0.95
- C67S (p.Cys67Ser), rs749112809, ClinGen CA1311592, ClinVar RCV001248575, ClinVar RCV001830044, REVEL 0.74, MetaLR 0.94, Uncertain significance, Retinitis pigmentosa 12; Leber congenital amaurosis 8
- C67Y (p.Cys67Tyr), ExAC rs749112809, TOPMed rs749112809, gnomAD rs749112809, REVEL 0.76, MetaLR 0.94, Conflicting interpretations, not provided; Retinitis pigmentosa 12; Leber congenital amaurosis 8
- C67C (p.Cys67Cys), rs778707167, gnomAD 1-197328552-T-C, CADD 7.13
- D68E (p.Asp68Glu), ExAC rs747895417, gnomAD rs747895417, REVEL 0.20, MetaLR 0.35
- D68D (p.Asp68Asp), gnomAD 1-197328555-C-T, CADD 0.94
- N69H (p.Asn69His), Ensembl rs893763475, REVEL 0.30, MetaLR 0.48
- N69del (p.Asn69del), rs1658657328, gnomAD 1-197328553-GACA-, CADD 6.61
- N69N (p.Asn69Asn), rs1302750453, gnomAD 1-197328558-C-T, CADD 0.07
- M70I (p.Met70Ile), TOPMed rs962778860, gnomAD rs962778860
- M70K (p.Met70Lys), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- M70T (p.Met70Thr), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- M70V (p.Met70Val), rs771462053, ClinGen CA1311595, ClinVar RCV001954570, ExAC rs771462053, Uncertain significance, Retinitis pigmentosa 12; Leber congenital amaurosis 8
- D72A (p.Asp72Ala), TOPMed rs1658658603, REVEL 0.48, MetaLR 0.86
- D72E (p.Asp72Glu), TOPMed rs972854308, REVEL 0.35, MetaLR 0.78, Uncertain significance, Inborn genetic diseases
- D72H (p.Asp72His), cosmic curated COSV66350, gnomAD rs1222749407, REVEL 0.46, MetaLR 0.87
- P73L (p.Pro73Leu), rs2465026444, ClinGen CA344085295, ClinVar RCV003086496, REVEL 0.36, MetaLR 0.89, Uncertain significance, Retinitis pigmentosa 12; Leber congenital amaurosis 8
- P73S (p.Pro73Ser), gnomAD 1-197328568-C-T, REVEL 0.27, MetaLR 0.87
- C74* (p.Cys74Ter), rs772819260, ClinGen CA344085303, ClinVar RCV003787130, ExAC rs772819260, CADD 25.40, Pathogenic
- C74S (p.Cys74Ser), cosmic curated COSV10970, NCI-TCGA TCGA novel, MetaLR 1.00, MetaSVM 1.19, Variant assessed as somatic; moderate impact.
- C74W (p.Cys74Trp), rs772819260, ClinGen CA1311596, ClinVar RCV001724858, ClinVar RCV002227537, REVEL 0.84, MetaLR 1.00, Uncertain significance, Retinitis pigmentosa; Retinitis pigmentosa 12
- F75F (p.Phe75Phe), gnomAD 1-197328576-C-T, CADD 5.46
- S76S (p.Ser76Ser), gnomAD 1-197328579-C-T, CADD 4.40
- N77H (p.Asn77His), TOPMed rs1164380572, MetaLR 0.81, MetaSVM 0.26
- N77S (p.Asn77Ser), TOPMed rs1330886467, gnomAD rs1330886467, REVEL 0.22, MetaLR 0.53
- P78T (p.Pro78Thr), gnomAD 1-197328583-C-A, REVEL 0.72, MetaLR 0.92
- P78H (p.Pro78His), gnomAD 1-197328584-C-A, REVEL 0.77, MetaLR 0.94
- P78P (p.Pro78Pro), rs1216212132, gnomAD 1-197328585-C-T, CADD 6.88
- C79R (p.Cys79Arg), ExAC rs761047352, gnomAD rs761047352, REVEL 0.91, MetaLR 1.00
- C79Y (p.Cys79Tyr), Ensembl rs1558056826, MetaLR 1.00, MetaSVM 1.41
- Q80E (p.Gln80Glu), rs1658660736, ClinGen CA344085341, ClinVar RCV001303189, TOPMed rs1658660736, Uncertain significance, Retinitis pigmentosa 12; Leber congenital amaurosis 8
- Q80L (p.Gln80Leu), rs1658660906, ClinGen CA344085344, ClinVar RCV001343065, Ensembl rs1658660906, Uncertain significance, Retinitis pigmentosa 12; Leber congenital amaurosis 8
- Q80H (p.Gln80His), gnomAD 1-197328591-A-C, REVEL 0.32, MetaLR 0.63
- G81* (p.Gly81Ter), Ensembl rs1658661063
- S82N (p.Ser82Asn), rs1658661237, ClinGen CA344085356, ClinVar RCV001318707, ClinVar RCV001836300, REVEL 0.15, MetaLR 0.30, Uncertain significance, Leber congenital amaurosis 8; Retinitis pigmentosa 12
- S82R (p.Ser82Arg), rs1265790269, ClinGen CA344085359, ClinVar RCV004367128, gnomAD rs1265790269, Uncertain significance, Inborn genetic diseases
- S82I (p.Ser82Ile), gnomAD 1-197328596-G-T, REVEL 0.22, MetaLR 0.50
- A83T (p.Ala83Thr), cosmic curated COSV10747, TOPMed rs1658661600, REVEL 0.64, MetaLR 0.86
- A83A (p.Ala83Ala), rs771491213, gnomAD 1-197328600-C-T, CADD 8.92
- T84A (p.Thr84Ala), rs1658661930, ClinGen CA344085368, ClinVar RCV001303496, Ensembl rs1658661930, Uncertain significance, Retinitis pigmentosa 12; Leber congenital amaurosis 8
- C85F (p.Cys85Phe), rs1553249226, ClinGen CA344085376, ClinVar RCV002908038, Uncertain significance, Retinitis pigmentosa 12; Leber congenital amaurosis 8
Public CRB1 analysis runs
- CRB1 analysis run — CRB1 (2,551 variants) — completed 2026-08-18