WDR19 (WD repeat-containing protein 19) variants and mutations
WDR19 (also known as WD repeat-containing protein 19) is a human protein-coding gene encoding a WD repeat-containing protein 19 protein. Part of the intraflagellar transport A complex, which moves cargo backward through cilia and helps proteins enter the ciliary compartment. By supporting cilium assembly and receptor trafficking, WDR19 contributes to kidney, retinal, skeletal, and reproductive biology. This analysis covers 1,621 WDR19 variants and mutations. Of these, 99% have computational variant effect predictions. Disease context includes cranioectodermal dysplasia, Senior-Loken syndrome, and nephronophthisis. Example WDR19 variants include M1T, K2K, and R3C.
Variant analysis overview
- Gene: WDR19
- Protein: WD repeat-containing protein 19
- UniProt accession: Q8NEZ3
- Organism: Homo sapiens
- Variants analyzed: 1621
- Variant scope: all variants
- Completed: 2026-06-01
Variant and mutation evidence
- Variant composition: 1,458 unspecified-consequence records; 5 splice-region variants; 93 missense variants; 34 synonymous variants; 11 stop-gained variants; 13 frameshift variants; 2 in-frame deletions; 5 substitution
- Prediction scores: 1,601 variants have prediction scores (99% of the analyzed set).
Clinical, disease, and population context
- Disease context: 25 disease associations are represented. Top associations: cranioectodermal dysplasia, Senior-Loken syndrome, nephronophthisis, asphyxiating thoracic dystrophy 5, Jeune syndrome, Senior-Loken syndrome 8, spermatogenic failure 72, Retinal dystrophy, connective tissue disease, Beemer-Langer syndrome, short-rib thoracic dysplasia 9 with or without polydactyly, genetic disorder.
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, PharmGKB, MaveDB, LitVar.
Notable WDR19 variants
Examples include M1T, K2K, R3C, R3H, R3L, R3S, R3G, R3R. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.
- M1T (p.Met1Thr), rs1021076498, ClinGen CA95674038, ClinVar RCV002030665, ESM-1b 0.00, AlphaMissense 0.58, Uncertain significance, Asphyxiating thoracic dystrophy 5; Senior-Loken syndrome 8
- K2K (p.Lys2Lys), gnomAD 4-39182563-G-A, CADD 33.00
- R3C (p.Arg3Cys), rs1725441648, ClinGen CA356630197, cosmic curated COSV10517, ClinVar RCV002913094, REVEL 0.18, ESM-1b 0.00, Uncertain significance, Asphyxiating thoracic dystrophy 5; Senior-Loken syndrome 8
- R3H (p.Arg3His), rs922584346, ClinGen CA356630198, ClinVar RCV001348781, ClinVar RCV002476606, REVEL 0.15, ESM-1b 0.00, Uncertain significance, Spermatogenic failure 72; Cranioectodermal dysplasia 4; Asphyxiating thoracic dy
- R3L (p.Arg3Leu), TOPMed rs922584346, gnomAD rs922584346, REVEL 0.06, ESM-1b 0.00, Uncertain significance
- R3S (p.Arg3Ser), gnomAD 4-39185726-C-A, REVEL 0.05, ESM-1b 0.00
- R3G (p.Arg3Gly), gnomAD 4-39185726-C-G, REVEL 0.09, ESM-1b 0.00
- R3R (p.Arg3Arg), rs1408492113, gnomAD 4-39185728-T-C, CADD 15.90
- I4T (p.Ile4Thr), rs2109740507, ClinGen CA356630210, ClinVar RCV001892427, Ensembl rs2109740507, ESM-1b 0.00, AlphaMissense 0.55, Uncertain significance, Asphyxiating thoracic dystrophy 5; Senior-Loken syndrome 8
- F5S (p.Phe5Ser), rs1237494778, ClinGen CA356630223, ClinVar RCV000681867, ClinVar RCV001074270, REVEL 0.63, ESM-1b 0.00, Pathogenic/Likely pathogenic, Retinal dystrophy; Spermatogenic failure 72; Asphyxiating thoracic dystrophy 5
- F5I (p.Phe5Ile), gnomAD 4-39185732-T-A, REVEL 0.36, ESM-1b 0.00
- F5F (p.Phe5Phe), rs1725443087, gnomAD 4-39185734-C-T, CADD 10.80
- S6T (p.Ser6Thr), gnomAD 4-39185735-T-A, REVEL 0.04, ESM-1b 0.00
- S6* (p.Ser6Ter), gnomAD 4-39185736-C-A, CADD 35.00
- S6L (p.Ser6Leu), gnomAD 4-39185736-C-T, REVEL 0.05, ESM-1b 0.00
- S6S (p.Ser6Ser), rs1285774012, gnomAD 4-39185737-A-G, CADD 10.50
- L7P (p.Leu7Pro), rs387906982, ClinGen CA129407, ClinVar RCV000023683, UniProt VAR 067312, REVEL 0.58, ESM-1b 0.00, Pathogenic, Asphyxiating thoracic dystrophy 5
- L7R (p.Leu7Arg), rs1353554868, gnomAD 4-39185738-CT-C, CADD 27.10
- L7M (p.Leu7Met), gnomAD 4-39185738-C-A, REVEL 0.34, ESM-1b 0.00
- L7L (p.Leu7Leu), gnomAD 4-39185738-C-T, CADD 10.10
- L8I (p.Leu8Ile), gnomAD 4-39185741-C-A, REVEL 0.04, ESM-1b 0.00
- L8L (p.Leu8Leu), rs977726033, gnomAD 4-39185741-C-T, CADD 5.93
- L8V (p.Leu8Val), gnomAD 4-39185741-C-G, REVEL 0.02, ESM-1b 0.00
- L8P (p.Leu8Pro), gnomAD 4-39185742-T-C, REVEL 0.17, ESM-1b 0.00
- L8R (p.Leu8Arg), gnomAD 4-39185742-T-G, REVEL 0.11, ESM-1b 0.00
- L8Q (p.Leu8Gln), gnomAD 4-39185742-T-A, REVEL 0.04, ESM-1b 0.00
- E9K (p.Glu9Lys), gnomAD 4-39185744-G-A, REVEL 0.19, ESM-1b 0.00
- E9* (p.Glu9Ter), gnomAD 4-39185744-G-T, CADD 37.00
- E9V (p.Glu9Val), gnomAD 4-39185745-A-T, REVEL 0.37, ESM-1b 0.00
- E9E (p.Glu9Glu), gnomAD 4-39185746-A-G, CADD 9.57
- K10R (p.Lys10Arg), gnomAD 4-39185744-GA-G, CADD 31.00
- K10E (p.Lys10Glu), gnomAD 4-39185747-A-G, REVEL 0.16, ESM-1b 0.50
- K10M (p.Lys10Met), gnomAD 4-39185748-A-T, REVEL 0.30, ESM-1b 0.95
- K10N (p.Lys10Asn), gnomAD 4-39185749-G-T, REVEL 0.16, ESM-1b 0.00
- T11A (p.Thr11Ala), gnomAD rs1725445628, REVEL 0.04, ESM-1b 0.00
- T11N (p.Thr11Asn), gnomAD 4-39185751-C-A, REVEL 0.04, ESM-1b 0.00
- T11T (p.Thr11Thr), gnomAD 4-39185752-T-A, CADD 9.88
- W12R (p.Trp12Arg), gnomAD 4-39185753-T-A, REVEL 0.16, ESM-1b 0.00
- W12L (p.Trp12Leu), gnomAD 4-39185754-G-T, REVEL 0.14, ESM-1b 0.00
- W12* (p.Trp12Ter), gnomAD 4-39185754-G-A, CADD 36.00
- W12C (p.Trp12Cys), gnomAD 4-39185755-G-T, REVEL 0.14, ESM-1b 0.00
- L13R (p.Leu13Arg), ExAC rs754949027, gnomAD rs754949027, REVEL 0.10, ESM-1b 0.00
- L13I (p.Leu13Ile), gnomAD 4-39185756-C-A, REVEL 0.10, ESM-1b 0.00
- L13V (p.Leu13Val), gnomAD 4-39185756-C-G, REVEL 0.11, ESM-1b 0.00
- L13F (p.Leu13Phe), gnomAD 4-39185756-C-T, REVEL 0.11, ESM-1b 0.00
- L13H (p.Leu13His), gnomAD 4-39185757-T-A, REVEL 0.05, ESM-1b 0.00
- G14S (p.Gly14Ser), gnomAD 4-39185759-G-A, REVEL 0.07, ESM-1b 0.00
- G14C (p.Gly14Cys), gnomAD 4-39185759-G-T, REVEL 0.26, ESM-1b 0.45
- G14V (p.Gly14Val), gnomAD 4-39185760-G-T, REVEL 0.17, ESM-1b 0.00
- G14D (p.Gly14Asp), gnomAD 4-39185760-G-A, REVEL 0.17, ESM-1b 0.00
- G14G (p.Gly14Gly), gnomAD 4-39185761-C-A, CADD 5.38
- A15T (p.Ala15Thr), rs865806299, ClinGen CA95676053, ClinVar RCV001911558, TOPMed rs865806299, REVEL 0.06, ESM-1b 0.00, Uncertain significance, Asphyxiating thoracic dystrophy 5; Senior-Loken syndrome 8
- A15V (p.Ala15Val), ExAC rs747580252, gnomAD rs747580252, REVEL 0.07, ESM-1b 0.00
- A15S (p.Ala15Ser), gnomAD 4-39185762-G-T, REVEL 0.05, ESM-1b 0.00
- A15E (p.Ala15Glu), gnomAD 4-39185763-C-A, REVEL 0.05, ESM-1b 0.00
- A15A (p.Ala15Ala), gnomAD 4-39185764-A-C, CADD 7.52
- P16S (p.Pro16Ser), ExAC rs758117076, gnomAD rs758117076, REVEL 0.05, ESM-1b 0.00
- P16T (p.Pro16Thr), ExAC rs758117076, gnomAD rs758117076, REVEL 0.11, ESM-1b 0.00
- P16A (p.Pro16Ala), gnomAD 4-39185765-C-G, REVEL 0.16, ESM-1b 0.00
- P16L (p.Pro16Leu), gnomAD 4-39185766-C-T, REVEL 0.18, ESM-1b 0.35
- P16Q (p.Pro16Gln), gnomAD 4-39185766-C-A, REVEL 0.12, ESM-1b 1.00
- P16P (p.Pro16Pro), gnomAD 4-39185767-A-T, CADD 8.72
- I17L (p.Ile17Leu), NCI-TCGA TCGA novel, REVEL 0.06, ESM-1b 0.00, Variant assessed as somatic; moderate impact.
- I17V (p.Ile17Val), gnomAD 4-39185768-A-G, REVEL 0.08, ESM-1b 0.00
- I17T (p.Ile17Thr), gnomAD 4-39185769-T-C, REVEL 0.18, ESM-1b 0.00
- I17K (p.Ile17Lys), gnomAD 4-39185769-T-A, REVEL 0.36, ESM-1b 0.21
- Q18R (p.Gln18Arg), rs770324810, ClinGen CA95676069, ClinVar RCV002615071, gnomAD rs770324810, REVEL 0.13, ESM-1b 0.00, Uncertain significance, Senior-Loken syndrome 8; Asphyxiating thoracic dystrophy 5
- Q18K (p.Gln18Lys), gnomAD 4-39185771-C-A, REVEL 0.05, ESM-1b 0.00
- Q18* (p.Gln18Ter), gnomAD 4-39185771-C-T, CADD 35.00
- Q18P (p.Gln18Pro), gnomAD 4-39185772-A-C, REVEL 0.25, ESM-1b 0.75
- Q18L (p.Gln18Leu), gnomAD 4-39185772-A-T, REVEL 0.11, ESM-1b 0.19
- Q18H (p.Gln18His), gnomAD 4-39185773-G-T, REVEL 0.10, ESM-1b 0.00
- Q18Q (p.Gln18Gln), gnomAD 4-39185773-G-A, CADD 7.15
- F19C (p.Phe19Cys), rs1247231925, ClinGen CA356630395, ClinVar RCV000754961, ClinVar RCV001236163, REVEL 0.21, ESM-1b 0.22, Uncertain significance, Asphyxiating thoracic dystrophy 5; Senior-Loken syndrome 8; Jeune thoracic dystr
- F19K (p.Phe19Lys), rs1553901475, gnomAD 4-39185773-GTTTGC, CADD 27.80
- F19F (p.Phe19Phe), gnomAD 4-39185776-T-C, CADD 11.70
- A20T (p.Ala20Thr), TOPMed rs1725449610, REVEL 0.02, ESM-1b 0.00
- A20V (p.Ala20Val), rs2474999097, ClinGen CA356630407, ClinVar RCV004478246, REVEL 0.03, ESM-1b 0.00, Uncertain significance, Inborn genetic diseases
- A20S (p.Ala20Ser), gnomAD 4-39185777-G-T, REVEL 0.02, ESM-1b 0.00
- A20D (p.Ala20Asp), gnomAD 4-39185778-C-A, REVEL 0.14, ESM-1b 0.00
- A20G (p.Ala20Gly), gnomAD 4-39185778-C-G, REVEL 0.04, ESM-1b 0.42
- A20A (p.Ala20Ala), rs777240456, gnomAD 4-39185779-C-T, CADD 12.60
- W21* (p.Trp21Ter), 1000Genomes rs545407291, ExAC rs545407291, gnomAD rs545407291, NCI-TCGA Cosmic COSV5646, CADD 37.00, Variant assessed as somatic; high impact.
- W21C (p.Trp21Cys), 1000Genomes rs545407291, ExAC rs545407291, gnomAD rs545407291, REVEL 0.68, ESM-1b 1.00
- W21R (p.Trp21Arg), ExAC rs747406077, gnomAD rs747406077, REVEL 0.62, ESM-1b 1.00, Uncertain significance, Inborn genetic diseases
- W21L (p.Trp21Leu), gnomAD 4-39185781-G-T, REVEL 0.64, ESM-1b 1.00
- Q22P (p.Gln22Pro), rs2109740775, ClinGen CA356630438, ClinVar RCV001955287, Ensembl rs2109740775, ESM-1b 1.00, AlphaMissense 0.84, Uncertain significance, Asphyxiating thoracic dystrophy 5; Senior-Loken syndrome 8
- Q22K (p.Gln22Lys), gnomAD 4-39185782-GC-G, CADD 26.30
- Q22E (p.Gln22Glu), gnomAD 4-39185783-C-G, REVEL 0.26, ESM-1b 0.48
- Q22* (p.Gln22Ter), gnomAD 4-39185783-C-T, CADD 36.00
- Q22R (p.Gln22Arg), gnomAD 4-39185784-A-G, REVEL 0.41, ESM-1b 0.00
- Q22Q (p.Gln22Gln), gnomAD 4-39185785-A-G, CADD 9.77
- K23T (p.Lys23Thr), gnomAD 4-39185787-A-C, REVEL 0.20, ESM-1b 0.74
- K23R (p.Lys23Arg), gnomAD 4-39185787-A-G, REVEL 0.10, ESM-1b 0.00
- T24A (p.Thr24Ala), gnomAD rs1169495600, REVEL 0.04, ESM-1b 0.00
- T24I (p.Thr24Ile), TOPMed rs1725452838, gnomAD rs1725452838, REVEL 0.10, ESM-1b 0.00
- T24K (p.Thr24Lys), rs769095843, gnomAD 4-39185783-C-CAAA, CADD 26.80
- T24H (p.Thr24His), gnomAD 4-39185783-CA-C, CADD 26.70
- T24N (p.Thr24Asn), rs769095843, gnomAD 4-39185783-C-CA, CADD 27.50
- T24T (p.Thr24Thr), gnomAD 4-39185791-A-C, CADD 12.00
- S25P (p.Ser25Pro), rs2474999240, ClinGen CA356630473, ClinVar RCV002808342, REVEL 0.10, ESM-1b 0.89, Uncertain significance, Inborn genetic diseases
- S25T (p.Ser25Thr), gnomAD 4-39185792-T-A, REVEL 0.12, ESM-1b 0.00
- S25A (p.Ser25Ala), gnomAD 4-39185792-T-G, REVEL 0.10, ESM-1b 0.15
- S25* (p.Ser25Ter), gnomAD 4-39185793-C-A, CADD 36.00
- S25L (p.Ser25Leu), gnomAD 4-39185793-C-T, REVEL 0.11, ESM-1b 0.84
- S25S (p.Ser25Ser), rs1389886639, gnomAD 4-39185794-A-G, CADD 7.72
- G26A (p.Gly26Ala), rs2109740825, ClinGen CA356630489, ClinVar RCV001998451, Ensembl rs2109740825, ESM-1b 1.00, AlphaMissense 0.23, Uncertain significance, Asphyxiating thoracic dystrophy 5; Senior-Loken syndrome 8
- G26* (p.Gly26Ter), gnomAD 4-39185795-G-T, CADD 36.00
- G26E (p.Gly26Glu), gnomAD 4-39185796-G-A, REVEL 0.55, ESM-1b 1.00
- G26G (p.Gly26Gly), rs1428236221, gnomAD 4-39185797-A-G, CADD 12.90
- N27S (p.Asn27Ser), gnomAD rs1305420192, REVEL 0.16, ESM-1b 0.30
- N27D (p.Asn27Asp), gnomAD 4-39185798-A-G, REVEL 0.17, ESM-1b 0.00
- N27K (p.Asn27Lys), gnomAD 4-39185800-C-A, REVEL 0.18, ESM-1b 1.00
- N27N (p.Asn27Asn), rs1351039516, gnomAD 4-39185800-C-T, CADD 10.60
- Y28H (p.Tyr28His), rs924561850, ClinGen CA95676101, ClinVar RCV002672064, TOPMed rs924561850, REVEL 0.23, ESM-1b 0.27, Uncertain significance, Asphyxiating thoracic dystrophy 5; Senior-Loken syndrome 8
- Y28Y (p.Tyr28Tyr), gnomAD 4-39185803-C-T, CADD 8.15
- Y28* (p.Tyr28Ter), gnomAD 4-39185803-C-A, CADD 35.00
- L29I (p.Leu29Ile), gnomAD 4-39185804-C-A, REVEL 0.11, ESM-1b 0.00
- L29H (p.Leu29His), gnomAD 4-39185805-T-A, REVEL 0.53, ESM-1b 1.00
- L29L (p.Leu29Leu), rs1725455344, gnomAD 4-39185806-T-G, CADD 10.60
- A30P (p.Ala30Pro), rs776967770, UniProt VAR 073673, ExAC rs776967770, gnomAD rs776967770, REVEL 0.89, ESM-1b 1.00, Pathogenic, in SLSN8
- A30S (p.Ala30Ser), ExAC rs776967770, gnomAD rs776967770, REVEL 0.53, ESM-1b 0.40
- A30T (p.Ala30Thr), gnomAD 4-39185807-G-A, REVEL 0.62, ESM-1b 1.00
- A30E (p.Ala30Glu), gnomAD 4-39185808-C-A, REVEL 0.65, ESM-1b 1.00
- A30V (p.Ala30Val), gnomAD 4-39185808-C-T, REVEL 0.32, ESM-1b 1.00
- A30G (p.Ala30Gly), gnomAD 4-39185808-C-G, REVEL 0.46, ESM-1b 1.00
- A30A (p.Ala30Ala), gnomAD 4-39185809-A-G, CADD 12.60
- V31I (p.Val31Ile), TOPMed rs868429648, REVEL 0.13, ESM-1b 0.00
- V31L (p.Val31Leu), gnomAD 4-39185810-G-T, REVEL 0.20, ESM-1b 0.16
- V31A (p.Val31Ala), gnomAD 4-39185811-T-C, REVEL 0.18, ESM-1b 0.00
- V31E (p.Val31Glu), gnomAD 4-39185811-T-A, REVEL 0.38, ESM-1b 1.00
- T32A (p.Thr32Ala), gnomAD rs1363598133, REVEL 0.10, ESM-1b 0.00
- T32K (p.Thr32Lys), gnomAD 4-39185814-C-A, REVEL 0.17, ESM-1b 1.00
- T32T (p.Thr32Thr), rs1228632350, gnomAD 4-39185815-A-G, CADD 15.80
- G33R (p.Gly33Arg), TOPMed rs1296450180, gnomAD rs1296450180, REVEL 0.51, ESM-1b 1.00
- G33* (p.Gly33Ter), gnomAD 4-39185816-G-T, CADD 37.00, SIFT 0.00
- G33A (p.Gly33Ala), gnomAD 4-39185817-G-C, REVEL 0.37, ESM-1b 0.59
- G33V (p.Gly33Val), gnomAD 4-39185817-G-T, REVEL 0.58, ESM-1b 1.00
- G33G (p.Gly33Gly), gnomAD 4-39186539-A-G, CADD 14.50
- A34T (p.Ala34Thr), gnomAD rs1318009175, REVEL 0.06, ESM-1b 0.00
- A34V (p.Ala34Val), gnomAD rs1725575465, REVEL 0.07, ESM-1b 0.00
- A34S (p.Ala34Ser), gnomAD 4-39186540-G-T, REVEL 0.06, ESM-1b 0.00
- A34D (p.Ala34Asp), gnomAD 4-39186541-C-A, REVEL 0.11, ESM-1b 0.33
- A34A (p.Ala34Ala), gnomAD 4-39186542-T-G, CADD 11.00
- D35H (p.Asp35His), TOPMed rs1725576053, REVEL 0.27, ESM-1b 1.00
- D35Y (p.Asp35Tyr), gnomAD 4-39186543-G-T, REVEL 0.22, ESM-1b 1.00
- D35G (p.Asp35Gly), gnomAD 4-39186544-A-G, REVEL 0.33, ESM-1b 1.00
- D35D (p.Asp35Asp), rs1472687933, gnomAD 4-39186545-T-C, CADD 7.71
- Y36* (p.Tyr36Ter), rs1577822861, ClinGen CA356630643, ClinVar RCV000987438, Ensembl rs1577822861, Pathogenic
- Y36D (p.Tyr36Asp), rs781578023, ClinGen CA2891539, ClinVar RCV001238218, ExAC rs781578023, REVEL 0.14, ESM-1b 0.16, Uncertain significance, Senior-Loken syndrome 8; Asphyxiating thoracic dystrophy 5
- I37T (p.Ile37Thr), gnomAD 4-39186550-T-C, REVEL 0.11, ESM-1b 0.00
- I37I (p.Ile37Ile), gnomAD 4-39186551-T-C, CADD 8.92
- V38M (p.Val38Met), TOPMed rs1725577253, REVEL 0.31, ESM-1b 1.00
- V38L (p.Val38Leu), gnomAD 4-39186552-G-T, REVEL 0.15, ESM-1b 0.00
- V38V (p.Val38Val), gnomAD 4-39186554-G-A, CADD 10.70
- K39* (p.Lys39Ter), gnomAD 4-39186555-A-T, CADD 38.00
- I40N (p.Ile40Asn), Ensembl rs1577822877, REVEL 0.51, ESM-1b 1.00
- I40I (p.Ile40Ile), rs1560470779, gnomAD 4-39186560-C-T, CADD 11.80
- F41L (p.Phe41Leu), rs769894568, gnomAD 4-39186560-CT-C, CADD 25.70
- F41C (p.Phe41Cys), gnomAD 4-39186562-T-G, REVEL 0.32, ESM-1b 1.00
- F41F (p.Phe41Phe), gnomAD 4-39186563-T-C, CADD 13.30
- D42Y (p.Asp42Tyr), ESP rs375560382, ExAC rs375560382, gnomAD rs375560382, REVEL 0.57, ESM-1b 1.00
- D42G (p.Asp42Gly), gnomAD 4-39186565-A-G, REVEL 0.73, ESM-1b 1.00
- D42E (p.Asp42Glu), gnomAD 4-39186566-T-A, REVEL 0.33, ESM-1b 1.00
- R43C (p.Arg43Cys), rs1376704482, NCI-TCGA Cosmic COSV5646, cosmic curated COSV56463, TOPMed rs1376704482, REVEL 0.45, ESM-1b 1.00, Variant assessed as somatic; moderate impact.
- R43H (p.Arg43His), rs770312522, ClinGen CA2891542, cosmic curated COSV56467, ClinVar RCV001148842, REVEL 0.36, ESM-1b 1.00, Uncertain significance, Senior-Loken syndrome 8; Asphyxiating thoracic dystrophy 5; Cranioectodermal dys
- R43L (p.Arg43Leu), ExAC rs770312522, gnomAD rs770312522, REVEL 0.42, ESM-1b 1.00, Uncertain significance, Inborn genetic diseases
- R43del (p.Arg43del), gnomAD 4-39186566-TCGC-T, CADD 21.10
- R43S (p.Arg43Ser), gnomAD 4-39186567-C-A, REVEL 0.45, ESM-1b 1.00
- R43R (p.Arg43Arg), gnomAD 4-39186569-C-A, CADD 11.40
- H44Q (p.His44Gln), gnomAD rs1725579903, REVEL 0.12, ESM-1b 0.00
- H44R (p.His44Arg), TOPMed rs1725579623, REVEL 0.23, ESM-1b 1.00
- G45C (p.Gly45Cys), NCI-TCGA TCGA novel, REVEL 0.60, ESM-1b 1.00, Variant assessed as somatic; moderate impact.
- G45S (p.Gly45Ser), TOPMed rs1400132418, REVEL 0.51, ESM-1b 0.67
- G45D (p.Gly45Asp), gnomAD 4-39186574-G-A, REVEL 0.58, ESM-1b 1.00
- G45G (p.Gly45Gly), rs1385948371, gnomAD 4-39186575-T-C, CADD 10.40
- Q46K (p.Gln46Lys), gnomAD 4-39186576-C-A, REVEL 0.15, ESM-1b 0.00
- Q46L (p.Gln46Leu), gnomAD 4-39186577-A-T, REVEL 0.21, ESM-1b 0.00
- K47E (p.Lys47Glu), gnomAD 4-39186579-A-G, REVEL 0.17, ESM-1b 0.00
- K47K (p.Lys47Lys), rs749387746, gnomAD 4-39186581-A-G, CADD 12.10
Public WDR19 analysis runs
- WDR19 analysis run — WDR19 (1,621 variants) — completed 2026-06-01