TULP1 (Tubby-related protein 1) variants and mutations
TULP1 (also known as Tubby-related protein 1) is a human protein-coding gene encoding a tubby-related protein 1 protein. A tubby-like protein needed for normal photoreceptor function and survival, likely supporting intracellular transport in retinal cells. Variants cause inherited retinal degeneration. This analysis covers 985 TULP1 variants and mutations. Of these, 97% have computational variant effect predictions. Disease context includes retinitis pigmentosa, Leber congenital amaurosis, and inherited retinal dystrophy. Example TULP1 variants include P2H, P2R, and P2S.
Variant analysis overview
- Gene: TULP1
- Protein: Tubby-related protein 1
- UniProt accession: O00294
- Organism: Homo sapiens
- Variants analyzed: 985
- Variant scope: all variants
- Completed: 2026-10-09
Variant and mutation evidence
- Variant composition: 773 unspecified-consequence records; 1 stop lost; 92 synonymous variants; 5 stop-gained variants; 134 missense variants; 17 frameshift variants; 4 in-frame deletions; 4 splice-region variants; 2 substitution
- Prediction scores: 951 variants have prediction scores (97% of the analyzed set).
Clinical, disease, and population context
- Disease context: 25 disease associations are represented. Top associations: retinitis pigmentosa, Leber congenital amaurosis, inherited retinal dystrophy, Leber congenital amaurosis 1, autosomal recessive retinitis pigmentosa, posterior column ataxia-retinitis pigmentosa syndrome, eye disorder, Stargardt disease, retinal degeneration, syndactyly, Abnormality of the eye, polydactyly, postaxial, type A1.
Data sources
Evidence in this analysis draws on EBI Proteins Variation, UniProt, gnomAD v4, EuropePMC, 3D Hotspot Analysis, Interaction Network Analysis, Protein Data Bank, AlphaFold DB, gnomAD constraint, Open Targets, MaveDB, LitVar.
Diseases linked to TULP1
Notable TULP1 variants
Examples include P2H, P2R, P2S, L3P, L3Q, R4Q, D5A, D5N. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.
- P2H (p.Pro2His), rs1174952138, ClinGen CA363785516, cosmic curated COSV10000, ClinVar RCV001724829, REVEL 0.45, ESM-1b 0.00, Uncertain significance, not provided; Retinitis pigmentosa
- P2R (p.Pro2Arg), gnomAD rs1174952138, REVEL 0.49, ESM-1b 0.00, Uncertain significance
- P2S (p.Pro2Ser), Ensembl rs1761242298, ESM-1b 0.00, AlphaMissense 0.43, Uncertain significance, not provided
- L3P (p.Leu3Pro), TOPMed rs1311186934, gnomAD rs1311186934, REVEL 0.53, ESM-1b 0.00, Conflicting interpretations, TULP1-related disorder; not provided
- L3Q (p.Leu3Gln), TOPMed rs1311186934, gnomAD rs1311186934, REVEL 0.47, ESM-1b 0.00
- R4Q (p.Arg4Gln), rs373351673, ClinGen CA3773069, cosmic curated COSV57691, ClinVar RCV003060056, REVEL 0.42, ESM-1b 0.00, Conflicting interpretations, Inborn genetic diseases; not provided
- D5A (p.Asp5Ala), TOPMed rs1054313189, gnomAD rs1054313189, ESM-1b 0.00, AlphaMissense 0.13
- D5N (p.Asp5Asn), NCI-TCGA Cosmic COSV5769, cosmic curated COSV57692, gnomAD rs1761241829, REVEL 0.11, ESM-1b 0.00, Variant assessed as somatic; moderate impact.
- D5V (p.Asp5Val), TOPMed rs1054313189, gnomAD rs1054313189, REVEL 0.39, ESM-1b 0.00
- L8P (p.Leu8Pro), Ensembl rs2150929261, REVEL 0.62, ESM-1b 0.00
- L8V (p.Leu8Val), TOPMed rs1278591973, gnomAD rs1278591973, REVEL 0.39, ESM-1b 0.00
- R9Q (p.Arg9Gln), rs886061338, ClinGen CA10623722, cosmic curated COSV57693, ClinVar RCV000277173, REVEL 0.37, ESM-1b 0.00, Uncertain significance, not provided; Retinitis pigmentosa; Leber congenital amaurosis 15
- E10Q (p.Glu10Gln), rs368315442, ClinGen CA3773066, ClinVar RCV001204533, ClinVar RCV004963186, REVEL 0.35, ESM-1b 0.00, Uncertain significance, not provided; Inborn genetic diseases
- V11L (p.Val11Leu), ESP rs145272099, ExAC rs145272099, TOPMed rs145272099, gnomAD rs145272099, REVEL 0.30, ESM-1b 0.00, Uncertain significance
- V11M (p.Val11Met), rs145272099, ClinGen CA363785434, ClinVar RCV002895412, ESM-1b 0.00, AlphaMissense 0.79, Uncertain significance, not provided
- A13D (p.Ala13Asp), rs187701943, ClinGen CA3773063, ClinVar RCV001363348, 1000Genomes rs187701943, REVEL 0.34, ESM-1b 0.00, Uncertain significance, not provided
- A13T (p.Ala13Thr), TOPMed rs1761240798, REVEL 0.26, ESM-1b 0.00
- A13V (p.Ala13Val), 1000Genomes rs187701943, ExAC rs187701943, TOPMed rs187701943, gnomAD rs187701943, ESM-1b 0.00, AlphaMissense 0.39, Uncertain significance
- S16T (p.Ser16Thr), Ensembl rs912882168, ESM-1b 0.00, AlphaMissense 0.10
- G17E (p.Gly17Glu), rs2533813003, ClinGen CA363785362, ClinVar RCV002865009, REVEL 0.09, ESM-1b 0.00, Uncertain significance, Inborn genetic diseases
- H18R (p.His18Arg), TOPMed rs1761236177, gnomAD rs1761236177, REVEL 0.11, ESM-1b 0.00
- E19K (p.Glu19Lys), rs367559991, ClinGen CA3773043, ClinVar RCV001938137, ESP rs367559991, REVEL 0.35, ESM-1b 0.61, Uncertain significance, not provided
- E20K (p.Glu20Lys), rs760988046, NCI-TCGA Cosmic COSV1000, cosmic curated COSV10000, ExAC rs760988046, REVEL 0.35, ESM-1b 0.38, Variant assessed as somatic; moderate impact.
- E21G (p.Glu21Gly), TOPMed rs1761235872, ESM-1b 0.00, AlphaMissense 0.08
- E21K (p.Glu21Lys), rs970248214, NCI-TCGA Cosmic COSV5769, cosmic curated COSV57692, TOPMed rs970248214, REVEL 0.14, ESM-1b 0.07, Variant assessed as somatic; moderate impact.
- S22G (p.Ser22Gly), ExAC rs773837553, REVEL 0.10, ESM-1b 0.00
- S22T (p.Ser22Thr), rs1228631375, ClinGen CA363785329, ClinVar RCV001227249, gnomAD rs1228631375, REVEL 0.07, ESM-1b 0.00, Uncertain significance, not provided
- L23M (p.Leu23Met), gnomAD rs1426431281, ESM-1b 0.45, AlphaMissense 0.10
- P25L (p.Pro25Leu), rs761981623, ClinGen CA3773038, ClinVar RCV001337253, ExAC rs761981623, REVEL 0.29, ESM-1b 0.00, Uncertain significance, TULP1-related disorder; not provided
- P25R (p.Pro25Arg), ExAC rs761981623, TOPMed rs761981623, gnomAD rs761981623, REVEL 0.30, ESM-1b 0.00, Uncertain significance
- E26A (p.Glu26Ala), TOPMed rs1390830516, gnomAD rs1390830516, REVEL 0.18, ESM-1b 0.00
- A27G (p.Ala27Gly), NCI-TCGA Cosmic COSV5769, cosmic curated COSV57694, Variant assessed as somatic; moderate impact.
- P28L (p.Pro28Leu), ExAC rs774507811, gnomAD rs774507811, REVEL 0.09, ESM-1b 0.00, Uncertain significance, Inborn genetic diseases
- R29P (p.Arg29Pro), TOPMed rs1412251752, gnomAD rs1412251752, REVEL 0.23, ESM-1b 0.00, Uncertain significance, not provided
- R29Q (p.Arg29Gln), NCI-TCGA Cosmic COSV5769, TOPMed rs1412251752, gnomAD rs1412251752, ESM-1b 0.00, AlphaMissense 0.07, Variant assessed as somatic; moderate impact.
- R29W (p.Arg29Trp), rs148838796, ClinGen CA3773035, NCI-TCGA Cosmic COSV5769, cosmic curated COSV57692, REVEL 0.10, ESM-1b 0.79, Uncertain significance, Retinitis pigmentosa; Leber congenital amaurosis 15
- R30H (p.Arg30His), rs1398566369, ClinGen CA363785267, ClinVar RCV002047470, TOPMed rs1398566369, REVEL 0.25, ESM-1b 0.00, Uncertain significance, not provided
- R30L (p.Arg30Leu), rs1398566369, ClinGen CA363785264, ClinVar RCV001041394, TOPMed rs1398566369, REVEL 0.26, ESM-1b 0.00, Uncertain significance, not provided
- R30S (p.Arg30Ser), rs1761235088, ClinGen CA363785271, ClinVar RCV001238226, NCI-TCGA TCGA novel, ESM-1b 0.00, AlphaMissense 0.29, Uncertain significance, not provided
- P31S (p.Pro31Ser), ExAC rs770728357, gnomAD rs770728357, REVEL 0.16, ESM-1b 0.00
- K32Q (p.Lys32Gln), Ensembl rs1761234816, REVEL 0.10, ESM-1b 0.00
- Q33E (p.Gln33Glu), ExAC rs746856003, gnomAD rs746856003, REVEL 0.30, ESM-1b 0.00
- Q33K (p.Gln33Lys), ExAC rs746856003, gnomAD rs746856003, REVEL 0.32, ESM-1b 0.00
- Q33L (p.Gln33Leu), 1000Genomes rs528561510, REVEL 0.30, ESM-1b 0.00
- R34* (p.Arg34Ter), rs1331834680, ClinGen CA363785173, ClinVar RCV001075606, ClinVar RCV001255923, CADD 35.00, Pathogenic
- P35A (p.Pro35Ala), gnomAD rs1353654207, REVEL 0.09, ESM-1b 0.00
- P35R (p.Pro35Arg), TOPMed rs1236793323, gnomAD rs1236793323, REVEL 0.11, ESM-1b 0.00
- A36S (p.Ala36Ser), rs891678786, ClinGen CA137293226, ClinVar RCV001346489, TOPMed rs891678786, REVEL 0.16, ESM-1b 0.00, Uncertain significance, not provided
- A36T (p.Ala36Thr), cosmic curated COSV10721, TOPMed rs891678786, gnomAD rs891678786, REVEL 0.22, ESM-1b 0.00, Uncertain significance
- P37L (p.Pro37Leu), rs1761225244, ClinGen CA363785134, cosmic curated COSV57692, ClinVar RCV001938963, REVEL 0.11, ESM-1b 0.00, Uncertain significance, not provided
- P37R (p.Pro37Arg), TOPMed rs1761225244, REVEL 0.10, ESM-1b 0.00, Uncertain significance
- A38T (p.Ala38Thr), TOPMed rs1290625573, gnomAD rs1290625573, REVEL 0.13, ESM-1b 0.00
- Q39* (p.Gln39Ter), Ensembl rs1561818754, CADD 37.00
- Q39R (p.Gln39Arg), TOPMed rs1487706110, REVEL 0.26, ESM-1b 0.00
- R40M (p.Arg40Met), TOPMed rs1209546911, REVEL 0.17, ESM-1b 0.56
- R40S (p.Arg40Ser), TOPMed rs866656460, gnomAD rs866656460, REVEL 0.16, ESM-1b 0.00, Likely benign
- L41P (p.Leu41Pro), TOPMed rs1761224758, REVEL 0.17, ESM-1b 0.00
- R42G (p.Arg42Gly), ExAC rs778759254, TOPMed rs778759254, gnomAD rs778759254, REVEL 0.34, ESM-1b 0.00, Likely benign
- R42M (p.Arg42Met), Ensembl rs866336086, REVEL 0.32, ESM-1b 0.65
- K44T (p.Lys44Thr), ExAC rs768193103, TOPMed rs768193103, gnomAD rs768193103, REVEL 0.43, ESM-1b 0.00
- R45M (p.Arg45Met), Ensembl rs867611064, REVEL 0.34, ESM-1b 0.57
- R45S (p.Arg45Ser), rs1237699541, ClinGen CA363785062, ClinVar RCV001318058, TOPMed rs1237699541, REVEL 0.19, ESM-1b 0.00, Uncertain significance, not provided
- T46M (p.Thr46Met), rs200344441, ClinGen CA137293164, cosmic curated COSV57692, ClinVar RCV002021865, REVEL 0.17, ESM-1b 0.00, Uncertain significance, not provided
- E47* (p.Glu47Ter), rs1761224205, ClinGen CA363785046, ClinVar RCV001199360, TOPMed rs1761224205, CADD 34.00, Likely pathogenic
- A48D (p.Ala48Asp), TOPMed rs906855472, gnomAD rs906855472, REVEL 0.16, ESM-1b 0.00, Uncertain significance, Inborn genetic diseases
- A48P (p.Ala48Pro), Ensembl rs1581745290, REVEL 0.11, ESM-1b 0.00
- A48V (p.Ala48Val), TOPMed rs906855472, gnomAD rs906855472, REVEL 0.13, ESM-1b 0.00, Uncertain significance, Inborn genetic diseases
- E50K (p.Glu50Lys), Ensembl rs1761223760, REVEL 0.17, ESM-1b 0.00
- S51F (p.Ser51Phe), rs1323166247, ClinGen CA363784988, ClinVar RCV001348688, gnomAD rs1323166247, REVEL 0.23, ESM-1b 0.86, Uncertain significance, not provided
- S51P (p.Ser51Pro), Ensembl rs1581745267, REVEL 0.25, ESM-1b 0.00
- S51Y (p.Ser51Tyr), rs1323166247, ClinGen CA363784991, ClinVar RCV002597575, gnomAD rs1323166247, REVEL 0.20, ESM-1b 1.00, Uncertain significance, not provided
- P52A (p.Pro52Ala), Ensembl rs1761222899, REVEL 0.11, ESM-1b 0.00
- P52H (p.Pro52His), 1000Genomes rs550864319, TOPMed rs550864319, gnomAD rs550864319, REVEL 0.20, ESM-1b 1.00, Uncertain significance
- P52L (p.Pro52Leu), rs550864319, ClinGen CA137293135, ClinVar RCV003002164, 1000Genomes rs550864319, REVEL 0.09, ESM-1b 0.00, Uncertain significance, not provided
- C53T (p.Cys53Thr), rs2533813670, ClinGen CA363785501, ClinVar RCV002953758, NCI-TCGA TCGA novel, Uncertain significance
- C53* (p.Cys53Ter), Ensembl rs867359759, CADD 33.00, Likely pathogenic
- C53R (p.Cys53Arg), rs2150928757, ClinGen CA363784971, ClinVar RCV001913319, Ensembl rs2150928757, REVEL 0.14, ESM-1b 0.00, Uncertain significance, not provided
- C53A (p.Cys53Ala), NCI-TCGA Cosmic COSV5769, Variant assessed as somatic; moderate impact.
- C53G (p.Cys53Gly), NCI-TCGA Cosmic COSV1000, Variant assessed as somatic; moderate impact.
- P54L (p.Pro54Leu), rs2533811452, ClinGen CA363784950, ClinVar RCV003043310, REVEL 0.12, ESM-1b 0.00, Uncertain significance, not provided
- T55K (p.Thr55Lys), rs1163569465, ClinGen CA363784942, ClinVar RCV002740640, Ensembl rs1163569465, REVEL 0.08, ESM-1b 0.00, Uncertain significance, not provided
- S57P (p.Ser57Pro), Ensembl rs2150928751, REVEL 0.10, ESM-1b 0.00
- P59L (p.Pro59Leu), rs750115295, ClinGen CA3773005, cosmic curated COSV57692, ClinVar RCV001920462, REVEL 0.21, ESM-1b 0.00, Uncertain significance, not provided; Inborn genetic diseases
- P59S (p.Pro59Ser), ExAC rs755762321, TOPMed rs755762321, gnomAD rs755762321, REVEL 0.23, ESM-1b 0.00, Uncertain significance, not provided
- P59T (p.Pro59Thr), ExAC rs755762321, TOPMed rs755762321, gnomAD rs755762321, REVEL 0.24, ESM-1b 0.00
- R60G (p.Arg60Gly), TOPMed rs1202178745, gnomAD rs1202178745, REVEL 0.11, ESM-1b 0.00, Uncertain significance
- R60L (p.Arg60Leu), TOPMed rs1490623059, gnomAD rs1490623059, REVEL 0.20, ESM-1b 0.00, Uncertain significance
- R60Q (p.Arg60Gln), rs1490623059, ClinGen CA363784890, ClinVar RCV002726331, ClinVar RCV003250572, REVEL 0.13, ESM-1b 0.00, Uncertain significance, Inborn genetic diseases; not provided
- R60W (p.Arg60Trp), TOPMed rs1202178745, gnomAD rs1202178745, REVEL 0.25, ESM-1b 0.81, Uncertain significance, not provided
- P62R (p.Pro62Arg), gnomAD rs1219783631, REVEL 0.07, ESM-1b 0.00, Uncertain significance, TULP1-related disorder
- P62S (p.Pro62Ser), rs781650198, ClinGen CA243286, ClinVar RCV000177171, ClinVar RCV001156390, REVEL 0.12, ESM-1b 0.00, Uncertain significance, Inborn genetic diseases; not specified; not provided
- G63* (p.Gly63Ter), rs757725696, ClinGen CA3773004, ClinVar RCV001376483, ClinVar RCV003771221, CADD 34.00, Pathogenic
- G63R (p.Gly63Arg), rs757725696, ClinGen CA363784861, ClinVar RCV001865018, ClinVar RCV004681266, REVEL 0.10, ESM-1b 0.00, Uncertain significance, Inborn genetic diseases; not provided
- A64V (p.Ala64Val), rs1286215025, ClinGen CA363784809, ClinVar RCV001349626, TOPMed rs1286215025, REVEL 0.22, ESM-1b 0.00, Uncertain significance, not provided
- G65V (p.Gly65Val), gnomAD rs1203709295, REVEL 0.18, ESM-1b 0.00
- G65W (p.Gly65Trp), gnomAD rs1264511610, REVEL 0.34, ESM-1b 0.23
- R66L (p.Arg66Leu), gnomAD rs1311597381, REVEL 0.21, ESM-1b 0.00
- T67A (p.Thr67Ala), TOPMed rs1243952652, gnomAD rs1243952652, REVEL 0.18, ESM-1b 0.00
- T67K (p.Thr67Lys), 1000Genomes rs7764472, ESP rs7764472, ExAC rs7764472, TOPMed rs7764472, REVEL 0.17, ESM-1b 0.00, Benign
- T67R (p.Thr67Arg), rs2533809491, ClinGen CA2739272959, ClinVar RCV003663638, REVEL 0.18, ESM-1b 0.00, Likely benign, Retinal dystrophy; not specified; not provided
- G68E (p.Gly68Glu), gnomAD rs1434712730, REVEL 0.17, ESM-1b 0.00
- G68R (p.Gly68Arg), gnomAD rs1298641413, REVEL 0.08, ESM-1b 0.00
- G68W (p.Gly68Trp), gnomAD rs1298641413, REVEL 0.28, ESM-1b 0.00
- G68A (p.Gly68Ala), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- P70Q (p.Pro70Gln), Ensembl rs1190585832, REVEL 0.21, ESM-1b 0.00
- R71G (p.Arg71Gly), ExAC rs757672643, TOPMed rs757672643, gnomAD rs757672643, REVEL 0.22, ESM-1b 0.00, Uncertain significance
- R71Q (p.Arg71Gln), gnomAD rs1359111633, REVEL 0.20, ESM-1b 0.00
- R71W (p.Arg71Trp), ExAC rs757672643, TOPMed rs757672643, gnomAD rs757672643, REVEL 0.29, ESM-1b 0.45, Uncertain significance, Inborn genetic diseases
- E72D (p.Glu72Asp), rs2533809390, ClinGen CA363784722, ClinVar RCV003063828, REVEL 0.24, ESM-1b 0.00, Uncertain significance, not provided
- E72Q (p.Glu72Gln), gnomAD rs1761209530, REVEL 0.23, ESM-1b 0.00, Uncertain significance, not provided
- E73G (p.Glu73Gly), gnomAD rs1412026729, REVEL 0.19, ESM-1b 0.00
- E73K (p.Glu73Lys), TOPMed rs1158745046, gnomAD rs1158745046, REVEL 0.26, ESM-1b 0.00
- P74A (p.Pro74Ala), rs200713417, ClinGen CA137292784, ClinVar RCV001930323, 1000Genomes rs200713417, REVEL 0.20, ESM-1b 0.00, Uncertain significance, not provided
- P74S (p.Pro74Ser), 1000Genomes rs200713417, TOPMed rs200713417, gnomAD rs200713417, REVEL 0.17, ESM-1b 0.00, Uncertain significance
- P74T (p.Pro74Thr), 1000Genomes rs200713417, TOPMed rs200713417, gnomAD rs200713417, REVEL 0.15, ESM-1b 0.00, Uncertain significance
- S75F (p.Ser75Phe), rs1244588827, ClinGen CA363784685, ClinVar RCV001153770, ClinVar RCV001153771, REVEL 0.17, ESM-1b 0.39, Uncertain significance, Retinitis pigmentosa; Leber congenital amaurosis 15
- S75P (p.Ser75Pro), TOPMed rs1761209122, REVEL 0.13, ESM-1b 0.00
- P76L (p.Pro76Leu), gnomAD rs1482609956, REVEL 0.22, ESM-1b 0.00
- D77A (p.Asp77Ala), Ensembl rs2150928436, ESM-1b 0.00, AlphaMissense 0.06
- P78T (p.Pro78Thr), rs2533809332, ClinGen CA363784657, ClinVar RCV002747903, REVEL 0.13, ESM-1b 0.00, Uncertain significance, Inborn genetic diseases
- A79D (p.Ala79Asp), rs2533809311, ClinGen CA363784643, ClinVar RCV002721690, REVEL 0.23, ESM-1b 0.00, Uncertain significance, not provided
- Q80* (p.Gln80Ter), rs1309100490, ClinGen CA363784635, ClinVar RCV001247233, ClinVar RCV003106162, CADD 32.00, Pathogenic
- A81T (p.Ala81Thr), gnomAD rs1235696684, REVEL 0.11, ESM-1b 0.00
- R82G (p.Arg82Gly), TOPMed rs1307986064, gnomAD rs1307986064, REVEL 0.15, ESM-1b 0.00
- R82P (p.Arg82Pro), ExAC rs753258431, TOPMed rs753258431, gnomAD rs753258431, REVEL 0.16, ESM-1b 0.00, Uncertain significance
- R82Q (p.Arg82Gln), rs753258431, ClinGen CA3772982, ClinVar RCV001242485, ExAC rs753258431, REVEL 0.13, ESM-1b 0.00, Uncertain significance, not provided
- R82W (p.Arg82Trp), cosmic curated COSV57692, TOPMed rs1307986064, gnomAD rs1307986064, REVEL 0.35, ESM-1b 0.23
- A83E (p.Ala83Glu), rs765249939, ClinGen CA3772981, ClinVar RCV002667105, ClinVar RCV003889145, REVEL 0.12, ESM-1b 0.00, Uncertain significance, Retinal dystrophy; not provided
- A83T (p.Ala83Thr), gnomAD rs1340377003, REVEL 0.15, ESM-1b 0.00
- A83V (p.Ala83Val), rs765249939, ClinGen CA363784071, cosmic curated COSV57692, ClinVar RCV001243084, REVEL 0.16, ESM-1b 0.00, Uncertain significance, not provided
- P84R (p.Pro84Arg), gnomAD rs1378475902, REVEL 0.10, ESM-1b 0.00
- Q85R (p.Gln85Arg), rs754040672, ClinGen CA3772979, ClinVar RCV000341031, ClinVar RCV000400311, REVEL 0.20, ESM-1b 0.00, Uncertain significance, Leber congenital amaurosis 15; Inborn genetic diseases; not provided
- T86K (p.Thr86Lys), rs761667984, ClinGen CA3772977, ClinVar RCV001966308, ExAC rs761667984, REVEL 0.19, ESM-1b 0.00, Uncertain significance, not provided
- T86M (p.Thr86Met), ExAC rs761667984, TOPMed rs761667984, gnomAD rs761667984, REVEL 0.23, ESM-1b 0.00, Uncertain significance, not provided
- V87A (p.Val87Ala), ExAC rs773954670, gnomAD rs773954670, REVEL 0.21, ESM-1b 0.00, Uncertain significance
- V87D (p.Val87Asp), rs773954670, ClinGen CA3772976, ClinVar RCV001915513, ExAC rs773954670, REVEL 0.41, ESM-1b 0.00, Uncertain significance, not provided
- Y88C (p.Tyr88Cys), rs762751444, ClinGen CA3772974, ClinVar RCV001039781, ClinVar RCV002551457, REVEL 0.51, ESM-1b 0.00, Uncertain significance, Inborn genetic diseases; not provided
- Y88S (p.Tyr88Ser), ExAC rs762751444, TOPMed rs762751444, gnomAD rs762751444, ESM-1b 0.00, AlphaMissense 0.48, Uncertain significance
- A89P (p.Ala89Pro), Ensembl rs554200612, REVEL 0.32, ESM-1b 0.00
- A89S (p.Ala89Ser), Ensembl rs554200612, REVEL 0.26, ESM-1b 0.00
- A89V (p.Ala89Val), gnomAD rs1422751896, REVEL 0.22, ESM-1b 0.00
- R90S (p.Arg90Ser), rs775531277, ClinGen CA3772973, ClinVar RCV002878061, ExAC rs775531277, REVEL 0.22, ESM-1b 0.00, Uncertain significance, Inborn genetic diseases
- L92F (p.Leu92Phe), TOPMed rs1391622608, gnomAD rs1391622608, REVEL 0.34, ESM-1b 0.00
- D94Y (p.Asp94Tyr), ExAC rs769395762, gnomAD rs769395762, REVEL 0.81, ESM-1b 0.29
- P95S (p.Pro95Ser), rs924446814, ClinGen CA137292689, ClinVar RCV003989344, TOPMed rs924446814, ESM-1b 0.00, AlphaMissense 0.27, Uncertain significance, Leber congenital amaurosis 15
- P95T (p.Pro95Thr), TOPMed rs924446814, gnomAD rs924446814, REVEL 0.49, ESM-1b 0.00, Uncertain significance
- E96* (p.Glu96Ter), TOPMed rs867991935, gnomAD rs867991935, CADD 36.00
- E96K (p.Glu96Lys), TOPMed rs867991935, gnomAD rs867991935, REVEL 0.12, ESM-1b 0.00
- A97D (p.Ala97Asp), gnomAD rs1162169720, REVEL 0.38, ESM-1b 0.00
- K98R (p.Lys98Arg), TOPMed rs1761206862, REVEL 0.31, ESM-1b 0.00
- K99N (p.Lys99Asn), gnomAD rs1453890817, REVEL 0.36, ESM-1b 0.00
- K99R (p.Lys99Arg), rs145518705, ClinGen CA3772971, ClinVar RCV001047048, ClinVar RCV001152497, REVEL 0.31, ESM-1b 0.00, Uncertain significance, not provided; TULP1-related disorder; Inborn genetic diseases
- R100H (p.Arg100His), cosmic curated COSV11405, ExAC rs776408837, TOPMed rs776408837, gnomAD rs776408837, REVEL 0.32, ESM-1b 0.05
- D101E (p.Asp101Glu), cosmic curated COSV57693, TOPMed rs950379286, gnomAD rs950379286, ESM-1b 0.00, AlphaMissense 0.20, Likely benign
- P102L (p.Pro102Leu), ExAC rs770773936, gnomAD rs770773936, REVEL 0.44, ESM-1b 0.00
- P102R (p.Pro102Arg), ExAC rs770773936, gnomAD rs770773936, REVEL 0.51, ESM-1b 0.00
- R103G (p.Arg103Gly), ExAC rs777941360, TOPMed rs777941360, gnomAD rs777941360, REVEL 0.22, ESM-1b 0.00
- R103Q (p.Arg103Gln), cosmic curated COSV57692, ExAC rs758811222, TOPMed rs758811222, gnomAD rs758811222, REVEL 0.27, ESM-1b 0.00
- R103W (p.Arg103Trp), cosmic curated COSV10456, ExAC rs777941360, TOPMed rs777941360, gnomAD rs777941360, REVEL 0.42, ESM-1b 0.00, Uncertain significance, Inborn genetic diseases
- F106L (p.Phe106Leu), cosmic curated COSV57694, TOPMed rs1166588666, gnomAD rs1166588666, REVEL 0.36, ESM-1b 0.00, Uncertain significance, not provided
- F106S (p.Phe106Ser), cosmic curated COSV10721, TOPMed rs1369735098, gnomAD rs1369735098, REVEL 0.43, ESM-1b 0.00
- V108L (p.Val108Leu), cosmic curated COSV57692, ESP rs150453963, ExAC rs150453963, TOPMed rs150453963, REVEL 0.28, ESM-1b 0.00
- R110C (p.Arg110Cys), TOPMed rs868155975, gnomAD rs868155975, REVEL 0.41, ESM-1b 0.31
- R110H (p.Arg110His), TOPMed rs1366347954, gnomAD rs1366347954, REVEL 0.28, ESM-1b 0.00
- A111T (p.Ala111Thr), 1000Genomes rs556979411, ExAC rs556979411, gnomAD rs556979411, REVEL 0.27, ESM-1b 0.00
- A114T (p.Ala114Thr), rs1273033018, ClinGen CA363783596, ClinVar RCV001964784, TOPMed rs1273033018, REVEL 0.19, ESM-1b 0.00, Uncertain significance, not provided
- A114V (p.Ala114Val), cosmic curated COSV10585, ExAC rs766451583, gnomAD rs766451583, REVEL 0.18, ESM-1b 0.00
- E115* (p.Glu115Ter), Ensembl rs2150928336, CADD 34.00
- D116E (p.Asp116Glu), TOPMed rs1179878512, gnomAD rs1179878512, REVEL 0.14, ESM-1b 0.00, Uncertain significance, Inborn genetic diseases
- E117K (p.Glu117Lys), rs527236117, ClinGen CA270083, ClinVar RCV000132650, ClinVar RCV001376329, REVEL 0.17, ESM-1b 1.00, Conflicting interpretations, Retinitis pigmentosa 14; Leber congenital amaurosis 15; not provided
- E121* (p.Glu121Ter), rs1581744084, ClinGen CA363783402, ClinVar RCV000787892, Ensembl rs1581744084, Likely pathogenic
- E121D (p.Glu121Asp), TOPMed rs1031858478, gnomAD rs1031858478, REVEL 0.12, ESM-1b 0.00
- E122D (p.Glu122Asp), rs113772629, ClinGen CA235186, ClinVar RCV000154104, 1000Genomes rs113772629, REVEL 0.10, ESM-1b 0.00, Conflicting interpretations, TULP1-related disorder; not specified; not provided
- E122V (p.Glu122Val), ExAC rs750582036, gnomAD rs750582036, REVEL 0.10, ESM-1b 1.00
- E123D (p.Glu123Asp), rs1761188243, ClinGen CA363783369, ClinVar RCV003890995, TOPMed rs1761188243, REVEL 0.10, ESM-1b 0.00, Likely pathogenic, Retinal dystrophy
- E123Q (p.Glu123Gln), rs758112488, ClinGen CA3772942, ClinVar RCV001296852, ClinVar RCV005512985, REVEL 0.16, ESM-1b 1.00, Uncertain significance, TULP1-related disorder; Inborn genetic diseases; not provided
- D124E (p.Asp124Glu), rs147950414, ClinGen CA3772939, ClinVar RCV001246842, ClinVar RCV005762227, REVEL 0.15, ESM-1b 0.00, Conflicting interpretations, Inborn genetic diseases; not provided
- D124A (p.Asp124Ala), 1000Genomes rs199651570, TOPMed rs199651570, REVEL 0.10, ESM-1b 0.00
- D124N (p.Asp124Asn), rs565455738, ClinGen CA3772941, ClinVar RCV002638043, ClinVar RCV002640276, REVEL 0.13, ESM-1b 0.89, Uncertain significance, Retinal dystrophy; Inborn genetic diseases; not provided
- E125* (p.Glu125Ter), rs376074938, ClinGen CA3772936, ClinVar RCV003724090, 1000Genomes rs376074938, CADD 32.00, Pathogenic
Public TULP1 analysis runs
- TULP1 analysis run — TULP1 (985 variants) — completed 2026-10-09