ALK (ALK tyrosine kinase receptor) variants and mutations
ALK (also known as ALK tyrosine kinase receptor) is a human protein-coding gene encoding an ALK tyrosine kinase receptor protein. Its kinase signaling influences neural development and cell growth, but constitutive activation can become strongly oncogenic. ALK fusions, activating mutations, or amplification drive anaplastic large-cell lymphoma, subsets of lung cancer, and neuroblastoma and can be targeted with ALK inhibitors. This analysis covers 6,292 ALK variants and mutations. Of these, 61% have computational variant effect predictions. Disease context includes neuroblastoma, neuroblastoma, susceptibility to, 3, and non-small cell lung carcinoma. Example ALK variants include M1L, M1T, and G2*.
Variant analysis overview
- Gene: ALK
- Protein: ALK tyrosine kinase receptor
- UniProt accession: Q9UM73
- Organism: Homo sapiens
- Variants analyzed: 6292
- Variant scope: all variants
- Completed: 2026-08-10
Variant and mutation evidence
- Variant composition: 6,093 unspecified-consequence records; 1 stop retained variant; 150 synonymous variants; 21 missense variants; 11 frameshift variants; 3 in-frame insertions; 8 in-frame deletions; 1 stop-gained variants; 2 splice-region variants; 2 substitution
- Prediction scores: 3,837 variants have prediction scores (61% of the analyzed set).
Clinical, disease, and population context
- Disease context: 25 disease associations are represented. Top associations: neuroblastoma, neuroblastoma, susceptibility to, 3, non-small cell lung carcinoma, cancer, neoplasm, lung cancer, anaplastic large cell lymphoma, lung adenocarcinoma, squamous cell lung carcinoma, lymphoma, inflammatory myofibroblastic tumor, hereditary neoplastic syndrome.
Protein structure and variant hotspots
- Protein features: 1 transmembrane segments; 4 domains; 4 binding sites; 23 post-translational modification sites.
- Structural context: 2,540 variants have structural context.
- PTM context: 81 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, Protein Data Bank, AlphaFold DB, gnomAD constraint, Open Targets, ClinGen, MaveDB, LitVar.
Notable ALK variants
Examples include M1L, M1T, G2*, G2A, G2E, G2R, G2V, A3G. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.
- M1L (p.Met1Leu), rs1202047396, ClinGen CA346590878, ClinVar RCV001878139, ClinVar RCV005584936, MutPred 0.94, Uncertain significance, Hereditary cancer-predisposing syndrome; Neuroblastoma, susceptibility to, 3
- M1T (p.Met1Thr), rs2148444203, ClinGen CA346590877, ClinVar RCV003518482, MutPred 0.94, Uncertain significance, Neuroblastoma, susceptibility to, 3
- G2* (p.Gly2Ter), Ensembl rs1667974338, CADD 35.00, Uncertain significance
- G2A (p.Gly2Ala), rs1459946897, ClinGen CA346590867, ClinVar RCV003468360, TOPMed rs1459946897, REVEL 0.02, MetaLR 0.39, Uncertain significance, Hereditary cancer-predisposing syndrome; Neuroblastoma, susceptibility to, 3
- G2E (p.Gly2Glu), TOPMed rs1459946897, gnomAD rs1459946897, REVEL 0.03, MetaLR 0.44, Uncertain significance, Hereditary cancer-predisposing syndrome
- G2R (p.Gly2Arg), rs1667974338, ClinGen CA346590871, ClinVar RCV001236481, Ensembl rs1667974338, REVEL 0.05, MetaLR 0.45, Uncertain significance, Neuroblastoma, susceptibility to, 3
- G2V (p.Gly2Val), TOPMed rs1459946897, gnomAD rs1459946897, REVEL 0.11, MetaLR 0.44, Uncertain significance
- A3G (p.Ala3Gly), Ensembl rs2148444184, Uncertain significance
- A3P (p.Ala3Pro), TOPMed rs1446332510, Likely benign
- A3T (p.Ala3Thr), rs1446332510, ClinGen CA346590865, ClinVar RCV000538902, ClinVar RCV002420488, MutPred 0.39, Likely benign
- A3V (p.Ala3Val), rs2148444184, ClinGen CA346590860, ClinVar RCV002623420, Ensembl rs2148444184, REVEL 0.13, MetaLR 0.39, Uncertain significance, Neuroblastoma, susceptibility to, 3
- I4F (p.Ile4Phe), gnomAD rs1223034189
- I4L (p.Ile4Leu), gnomAD rs1223034189
- I4M (p.Ile4Met), ExAC rs779744459, gnomAD rs779744459, Uncertain significance, Neuroblastoma, susceptibility to, 3
- I4N (p.Ile4Asn), Ensembl rs2148444177, REVEL 0.06, MetaLR 0.23, Uncertain significance
- I4S (p.Ile4Ser), Ensembl rs2148444177, Uncertain significance
- I4T (p.Ile4Thr), Ensembl rs2148444177, MetaLR 0.23, MetaSVM -0.93, Uncertain significance, Hereditary cancer-predisposing syndrome
- I4V (p.Ile4Val), gnomAD rs1223034189, REVEL 0.01, MetaLR 0.18, Conflicting interpretations, Hereditary cancer-predisposing syndrome; Neuroblastoma, susceptibility to, 3
- G5A (p.Gly5Ala), Ensembl rs2148444166, MetaLR 0.20, MetaSVM -0.97
- G5R (p.Gly5Arg), rs1272214012, ClinGen CA346590852, ClinVar RCV000534322, ClinVar RCV004948437, REVEL 0.05, MetaLR 0.23, Likely benign
- G5W (p.Gly5Trp), TOPMed rs1272214012, gnomAD rs1272214012, REVEL 0.06, MetaLR 0.23, Likely benign
- L6F (p.Leu6Phe), rs2148444159, ClinGen CA346590844, ClinVar RCV002406298, Ensembl rs2148444159, MutPred 0.28, Uncertain significance, Hereditary cancer-predisposing syndrome
- L6H (p.Leu6His), Ensembl rs2148444157
- L6P (p.Leu6Pro), Ensembl rs2148444157, REVEL 0.11, MetaLR 0.32
- L6V (p.Leu6Val), Ensembl rs2148444159, Uncertain significance
- L7C (p.Leu7Cys), rs770612152, ClinGen CA1595075, ClinVar RCV002914472, Uncertain significance
- L7M (p.Leu7Met), rs757811844, NCI-TCGA Cosmic COSV6657, ExAC rs757811844, REVEL 0.03, MetaLR 0.26, Variant assessed as somatic; moderate impact.
- L7P (p.Leu7Pro), rs1351584977, ClinGen CA346590835, ClinVar RCV002042555, TOPMed rs1351584977, REVEL 0.14, MetaLR 0.30, Uncertain significance, Neuroblastoma, susceptibility to, 3
- L7R (p.Leu7Arg), rs1351584977, ClinGen CA346590834, ClinVar RCV003165040, TOPMed rs1351584977, REVEL 0.26, MetaLR 0.29, Uncertain significance, Hereditary cancer-predisposing syndrome
- W8* (p.Trp8Ter), ExAC rs749905243, gnomAD rs749905243, CADD 38.00, Uncertain significance
- W8C (p.Trp8Cys), rs749905243, ExAC rs749905243, gnomAD rs749905243, ClinGen CA1595074, REVEL 0.17, MetaLR 0.41, Uncertain significance, Hereditary cancer-predisposing syndrome
- W8G (p.Trp8Gly), gnomAD rs1222954765, MetaLR 0.37, MetaSVM -0.74, Uncertain significance
- W8R (p.Trp8Arg), rs1222954765, gnomAD rs1222954765, ClinGen CA346590832, ClinVar RCV000699226, REVEL 0.31, MetaLR 0.37, Uncertain significance, Neuroblastoma, susceptibility to, 3; Hereditary cancer-predisposing syndrome
- L9I (p.Leu9Ile), rs1335279051, ClinGen CA346590823, ClinVar RCV002046153, gnomAD rs1335279051, REVEL 0.05, MetaLR 0.38, Uncertain significance, Neuroblastoma, susceptibility to, 3
- L9P (p.Leu9Pro), ExAC rs764671855, TOPMed rs764671855, gnomAD rs764671855, REVEL 0.28, MetaLR 0.37, Uncertain significance, not provided; not specified; Neuroblastoma, susceptibility to, 3
- L9R (p.Leu9Arg), rs764671855, ClinGen CA346590821, ClinVar RCV001348592, ClinVar RCV002431982, MutPred 0.59, Uncertain significance, Neuroblastoma, susceptibility to, 3; Hereditary cancer-predisposing syndrome
- L9V (p.Leu9Val), gnomAD rs1335279051, REVEL 0.06, MetaLR 0.38, Uncertain significance
- L10V (p.Leu10Val), 1000Genomes rs763976087, ExAC rs763976087, gnomAD rs763976087, Likely benign
- P11A (p.Pro11Ala), ExAC rs775832910, gnomAD rs775832910, REVEL 0.07, MetaLR 0.23, Uncertain significance
- P11L (p.Pro11Leu), rs767822322, ClinGen CA1595067, ClinVar RCV000647453, ClinVar RCV000997105, REVEL 0.03, MetaLR 0.17, Likely benign
- P11S (p.Pro11Ser), rs775832910, ClinGen CA1595068, ClinVar RCV002731484, ClinVar RCV003367872, REVEL 0.04, MetaLR 0.23, Uncertain significance, Neuroblastoma, susceptibility to, 3; Hereditary cancer-predisposing syndrome
- P11T (p.Pro11Thr), ExAC rs775832910, gnomAD rs775832910, REVEL 0.05, MetaLR 0.23, Uncertain significance
- L12P (p.Leu12Pro), rs1165737526, ClinGen CA346590809, ClinVar RCV001046255, ClinVar RCV004031428, REVEL 0.05, MetaLR 0.17, Conflicting interpretations, Hereditary cancer-predisposing syndrome; Neuroblastoma, susceptibility to, 3
- L12V (p.Leu12Val), Ensembl rs2148444097, Uncertain significance, Hereditary cancer-predisposing syndrome
- L13M (p.Leu13Met), ExAC rs749730757, REVEL 0.08, MetaLR 0.28, Likely benign
- L13P (p.Leu13Pro), Ensembl rs2148444086, REVEL 0.30, MetaLR 0.26
- L13Q (p.Leu13Gln), Ensembl rs2148444086
- L13V (p.Leu13Val), ExAC rs749730757, Likely benign
- L14F (p.Leu14Phe), rs1667971309, ClinGen CA346590802, ClinVar RCV002716709, ClinVar RCV005585213, REVEL 0.02, MetaLR 0.23, Uncertain significance, Neuroblastoma, susceptibility to, 3; Hereditary cancer-predisposing syndrome
- L14H (p.Leu14His), Ensembl rs2148444077
- L14P (p.Leu14Pro), Ensembl rs2148444077
- L14V (p.Leu14Val), TOPMed rs1667971309, Uncertain significance, Hereditary cancer-predisposing syndrome
- S15C (p.Ser15Cys), 1000Genomes rs770134645, ExAC rs770134645, TOPMed rs770134645, gnomAD rs770134645, Uncertain significance
- S15F (p.Ser15Phe), rs770134645, ClinGen CA1595062, ClinVar RCV001036609, ClinVar RCV004950126, REVEL 0.04, MetaLR 0.21, Uncertain significance, Hereditary cancer-predisposing syndrome; Neuroblastoma, susceptibility to, 3
- S15P (p.Ser15Pro), rs1667971233, ClinGen CA346590796, ClinVar RCV003306611, Ensembl rs1667971233, Uncertain significance, Hereditary cancer-predisposing syndrome
- S15T (p.Ser15Thr), rs1667971233, ClinGen CA346590797, ClinVar RCV002333742, ClinVar RCV003102580, MutPred 0.26, Uncertain significance, Hereditary cancer-predisposing syndrome; Neuroblastoma, susceptibility to, 3
- S15Y (p.Ser15Tyr), rs770134645, ClinGen CA1595061, ClinVar RCV000698820, ClinVar RCV002332472, REVEL 0.05, MetaLR 0.21, Uncertain significance, Hereditary cancer-predisposing syndrome; Neuroblastoma, susceptibility to, 3
- T16A (p.Thr16Ala), rs1572504096, ClinGen CA346590792, ClinVar RCV001225351, ClinVar RCV002339607, REVEL 0.01, MetaLR 0.11, Conflicting interpretations, Neuroblastoma, susceptibility to, 3; Hereditary cancer-predisposing syndrome
- T16K (p.Thr16Lys), 1000Genomes rs542229113, ExAC rs542229113, gnomAD rs542229113, REVEL 0.02, MetaLR 0.15, Likely benign
- T16M (p.Thr16Met), rs542229113, ClinGen CA1595059, ClinVar RCV003876874, ClinVar RCV004950754, REVEL 0.01, MetaLR 0.15, Conflicting interpretations, Hereditary cancer-predisposing syndrome; Neuroblastoma, susceptibility to, 3
- T16P (p.Thr16Pro), rs1572504096, ClinGen CA346590793, ClinVar RCV000793601, Ensembl rs1572504096, MutPred 0.23, Uncertain significance, Neuroblastoma, susceptibility to, 3
- T16R (p.Thr16Arg), rs542229113, ClinGen CA346590790, ClinVar RCV003634662, 1000Genomes rs542229113, REVEL 0.01, MetaLR 0.15, Uncertain significance, Neuroblastoma, susceptibility to, 3
- T16S (p.Thr16Ser), Ensembl rs1572504096, Likely benign
- A17G (p.Ala17Gly), Ensembl rs2148444051
- A17P (p.Ala17Pro), 1000Genomes rs369196372, ESP rs369196372, ExAC rs369196372, TOPMed rs369196372, Uncertain significance
- A17T (p.Ala17Thr), rs369196372, ClinGen CA1595057, ClinVar RCV000698821, ClinVar RCV005338321, REVEL 0.04, MetaLR 0.23, Conflicting interpretations, Hereditary cancer-predisposing syndrome; Neuroblastoma, susceptibility to, 3
- A17V (p.Ala17Val), Ensembl rs2148444051, REVEL 0.04, MetaLR 0.27
- A18D (p.Ala18Asp), Ensembl rs2148444040, REVEL 0.18, MetaLR 0.26, Uncertain significance, Hereditary cancer-predisposing syndrome; Neuroblastoma, susceptibility to, 3
- A18G (p.Ala18Gly), Ensembl rs2148444040, Uncertain significance
- A18P (p.Ala18Pro), rs1203105916, ClinGen CA346590783, ClinVar RCV001212607, ClinVar RCV003163613, REVEL 0.17, MetaLR 0.30, Uncertain significance, Hereditary cancer-predisposing syndrome; Neuroblastoma, susceptibility to, 3
- A18S (p.Ala18Ser), gnomAD rs1203105916, REVEL 0.10, MetaLR 0.31, Uncertain significance
- A18T (p.Ala18Thr), gnomAD rs1203105916, Uncertain significance
- A18V (p.Ala18Val), Ensembl rs2148444040, REVEL 0.12, MetaLR 0.28, Uncertain significance, not provided; Hereditary cancer-predisposing syndrome
- V19A (p.Val19Ala), Ensembl rs2148444032, Uncertain significance
- V19E (p.Val19Glu), Ensembl rs2148444032, Uncertain significance, Hereditary cancer-predisposing syndrome
- V19G (p.Val19Gly), rs2148444032, ClinGen CA346590774, ClinVar RCV004516682, Ensembl rs2148444032, MutPred 0.33, Uncertain significance, Hereditary cancer-predisposing syndrome
- V19L (p.Val19Leu), rs1057384991, ClinGen CA346590778, ClinVar RCV002025401, TOPMed rs1057384991, REVEL 0.03, MetaLR 0.16, Uncertain significance, Neuroblastoma, susceptibility to, 3
- V19M (p.Val19Met), rs1057384991, ClinGen CA45004789, ClinVar RCV002040166, ClinVar RCV002346268, REVEL 0.01, MetaLR 0.17, Uncertain significance, Hereditary cancer-predisposing syndrome; Neuroblastoma, susceptibility to, 3
- G20A (p.Gly20Ala), Ensembl rs1572504071, Uncertain significance
- G20C (p.Gly20Cys), gnomAD rs1667970548, Uncertain significance
- G20D (p.Gly20Asp), rs1572504071, ClinGen CA346590770, ClinVar RCV000824062, ClinVar RCV005582460, REVEL 0.06, MetaLR 0.21, Uncertain significance, Hereditary cancer-predisposing syndrome; Neuroblastoma, susceptibility to, 3
- G20R (p.Gly20Arg), gnomAD rs1667970548, Uncertain significance, Hereditary cancer-predisposing syndrome
- G20S (p.Gly20Ser), rs1667970548, ClinGen CA346590773, ClinVar RCV003518626, ClinVar RCV004823167, MutPred 0.34, Conflicting interpretations, Hereditary cancer-predisposing syndrome; Neuroblastoma, susceptibility to, 3; no
- G20V (p.Gly20Val), Ensembl rs1572504071, MetaLR 0.21, MetaSVM -0.94, Uncertain significance
- S21A (p.Ser21Ala), gnomAD rs1275224090, Uncertain significance
- S21C (p.Ser21Cys), gnomAD rs1297347468, Uncertain significance
- S21F (p.Ser21Phe), rs1297347468, ClinGen CA346590762, ClinVar RCV003068745, ClinVar RCV003294446, REVEL 0.03, MetaLR 0.24, Uncertain significance, ALK-related disorder; Neuroblastoma, susceptibility to, 3; Hereditary cancer-pre
- S21P (p.Ser21Pro), rs1275224090, ClinGen CA346590766, ClinVar RCV001067174, gnomAD rs1275224090, REVEL 0.03, MetaLR 0.21, Uncertain significance, Neuroblastoma, susceptibility to, 3
- S21T (p.Ser21Thr), gnomAD rs1275224090, Uncertain significance
- G22A (p.Gly22Ala), Ensembl rs2148444007
- G22E (p.Gly22Glu), Ensembl rs2148444007
- G22R (p.Gly22Arg), rs1667970184, ClinGen CA346590761, ClinVar RCV004516686, gnomAD rs1667970184, REVEL 0.03, MetaLR 0.25, Uncertain significance, Neuroblastoma, susceptibility to, 3; Hereditary cancer-predisposing syndrome
- G22V (p.Gly22Val), Ensembl rs2148444007, REVEL 0.14, MetaLR 0.27
- M23I (p.Met23Ile), Ensembl rs939430980
- M23K (p.Met23Lys), Ensembl rs2148443992
- M23L (p.Met23Leu), TOPMed rs987433112, gnomAD rs987433112, REVEL 0.03, MetaLR 0.14, Uncertain significance
- M23R (p.Met23Arg), Ensembl rs2148443992
- M23T (p.Met23Thr), Ensembl rs2148443992, MetaLR 0.14, MetaSVM -1.01
- M23V (p.Met23Val), rs987433112, ClinGen CA45004788, ClinVar RCV004516687, ClinVar RCV005100470, REVEL 0.03, MetaLR 0.14, Uncertain significance, Hereditary cancer-predisposing syndrome; Neuroblastoma, susceptibility to, 3
- G24A (p.Gly24Ala), rs2148443981, ClinGen CA346590744, ClinVar RCV004516691, ClinVar RCV005100471, MutPred 0.11, Uncertain significance, Hereditary cancer-predisposing syndrome; Neuroblastoma, susceptibility to, 3
- G24E (p.Gly24Glu), rs2148443981, ClinGen CA346590745, ClinVar RCV002295171, Ensembl rs2148443981, REVEL 0.03, MetaLR 0.25, Uncertain significance, Neuroblastoma, susceptibility to, 3
- G24R (p.Gly24Arg), Ensembl rs2148443984, REVEL 0.01, MetaLR 0.27
- G24V (p.Gly24Val), Ensembl rs2148443981, MetaLR 0.25, MetaSVM -0.91, Uncertain significance
- G24W (p.Gly24Trp), Ensembl rs2148443984, REVEL 0.06, MetaLR 0.27
- T25A (p.Thr25Ala), Ensembl rs2148443977, Uncertain significance, Neuroblastoma, susceptibility to, 3
- T25I (p.Thr25Ile), rs753812499, ClinGen CA1595054, ClinVar RCV001220623, ClinVar RCV006406861, REVEL 0.01, MetaLR 0.21, Conflicting interpretations, Neuroblastoma, susceptibility to, 3; Hereditary cancer-predisposing syndrome
- T25N (p.Thr25Asn), rs753812499, ClinGen CA346590739, ClinVar RCV001323947, ClinVar RCV002395711, REVEL 0.00, MetaLR 0.21, Uncertain significance, Hereditary cancer-predisposing syndrome; Neuroblastoma, susceptibility to, 3
- T25S (p.Thr25Ser), ExAC rs753812499, TOPMed rs753812499, gnomAD rs753812499, MetaLR 0.21, MetaSVM -0.97, Uncertain significance, Hereditary cancer-predisposing syndrome
- G26A (p.Gly26Ala), ExAC rs755942639, gnomAD rs755942639, Likely benign, Hereditary cancer-predisposing syndrome
- G26D (p.Gly26Asp), rs755942639, ClinGen CA1595052, ClinVar RCV001932456, ClinVar RCV004946788, REVEL 0.02, MetaLR 0.19, Uncertain significance, Hereditary cancer-predisposing syndrome; Neuroblastoma, susceptibility to, 3
- G26R (p.Gly26Arg), rs1060500214, ClinGen CA346590737, ClinVar RCV003358400, MutPred 0.15, Uncertain significance, Hereditary cancer-predisposing syndrome
- G26S (p.Gly26Ser), rs1060500214, ClinGen CA16610758, ClinVar RCV000458240, ClinVar RCV004591288, REVEL 0.03, MetaLR 0.17, Likely benign
- G26V (p.Gly26Val), ExAC rs755942639, gnomAD rs755942639, REVEL 0.01, MetaLR 0.21, Uncertain significance
- Q27E (p.Gln27Glu), rs1469224885, ClinGen CA346590732, ClinVar RCV000810935, ClinVar RCV002422785, REVEL 0.06, MetaLR 0.23, Uncertain significance, Neuroblastoma, susceptibility to, 3; Hereditary cancer-predisposing syndrome
- Q27H (p.Gln27His), Ensembl rs2148443956, Likely benign
- Q27L (p.Gln27Leu), ExAC rs752501243, gnomAD rs752501243, Uncertain significance
- Q27P (p.Gln27Pro), rs752501243, ClinGen CA346590730, ClinVar RCV003341786, MutPred 0.19, Uncertain significance, Hereditary cancer-predisposing syndrome
- Q27R (p.Gln27Arg), rs752501243, ClinGen CA1595051, ClinVar RCV001035163, ClinVar RCV005582494, REVEL 0.08, MetaLR 0.19, Conflicting interpretations, Neuroblastoma, susceptibility to, 3; Hereditary cancer-predisposing syndrome
- R28C (p.Arg28Cys), rs1060500231, ClinGen CA16610745, ClinVar RCV000461648, ClinVar RCV004022550, REVEL 0.06, MetaLR 0.19, Uncertain significance
- R28G (p.Arg28Gly), rs1060500231, ClinGen CA346590726, ClinVar RCV001231016, ClinVar RCV005348373, MutPred 0.22, Conflicting interpretations, Hereditary cancer-predisposing syndrome; Neuroblastoma, susceptibility to, 3
- R28H (p.Arg28His), rs1667969323, ClinGen CA346590724, ClinVar RCV001327171, Ensembl rs1667969323, REVEL 0.03, MetaLR 0.18, Uncertain significance, Neuroblastoma, susceptibility to, 3
- R28L (p.Arg28Leu), Ensembl rs1667969323, Uncertain significance
- R28P (p.Arg28Pro), Ensembl rs1667969323, MetaLR 0.23, MetaSVM -0.94, Uncertain significance
- A29G (p.Ala29Gly), Ensembl rs1667969126, NCI-TCGA TCGA novel, Uncertain significance, Hereditary cancer-predisposing syndrome
- A29P (p.Ala29Pro), gnomAD rs1326321652, Uncertain significance, Neuroblastoma, susceptibility to, 3
- A29S (p.Ala29Ser), rs1326321652, ClinGen CA346590719, ClinVar RCV002029323, ClinVar RCV005350878, MutPred 0.10, Uncertain significance, Hereditary cancer-predisposing syndrome; Neuroblastoma, susceptibility to, 3
- A29T (p.Ala29Thr), rs1326321652, ClinGen CA346590721, ClinVar RCV001220993, ClinVar RCV004951349, REVEL 0.03, MetaLR 0.16, Conflicting interpretations, Neuroblastoma, susceptibility to, 3; Hereditary cancer-predisposing syndrome
- A29V (p.Ala29Val), rs1667969126, ClinGen CA346590716, ClinVar RCV001228368, Ensembl rs1667969126, REVEL 0.03, MetaLR 0.15, Uncertain significance, Neuroblastoma, susceptibility to, 3
- G30A (p.Gly30Ala), Ensembl rs1558550220, Uncertain significance
- G30D (p.Gly30Asp), rs1558550220, ClinGen CA346590710, ClinVar RCV000686628, ClinVar RCV002369829, REVEL 0.05, MetaLR 0.19, Uncertain significance, Hereditary cancer-predisposing syndrome; Neuroblastoma, susceptibility to, 3
- G30R (p.Gly30Arg), Ensembl rs2148443939
- G30V (p.Gly30Val), Ensembl rs1558550220, MetaLR 0.23, MetaSVM -0.64, Uncertain significance
- S31A (p.Ser31Ala), rs1026192345, ClinGen CA16610741, ClinVar RCV000464595, ClinVar RCV002374741, REVEL 0.04, MetaLR 0.22, Uncertain significance
- S31C (p.Ser31Cys), rs2148443930, ClinGen CA346590706, ClinVar RCV002371521, MutPred 0.22, Uncertain significance, Hereditary cancer-predisposing syndrome
- S31F (p.Ser31Phe), Ensembl rs2148443930, REVEL 0.03, MetaLR 0.24
- S31P (p.Ser31Pro), TOPMed rs1026192345, Uncertain significance
- S31T (p.Ser31Thr), TOPMed rs1026192345, Likely benign, Hereditary cancer-predisposing syndrome
- P32A (p.Pro32Ala), rs573276657, ClinGen CA1595050, ClinVar RCV000819579, ClinVar RCV003489911, REVEL 0.08, MetaLR 0.26, Uncertain significance, Hereditary cancer-predisposing syndrome; Neuroblastoma, susceptibility to, 3; no
- P32L (p.Pro32Leu), rs759748510, ClinGen CA45004786, ClinVar RCV000703099, ClinVar RCV004948623, REVEL 0.03, MetaLR 0.21, Conflicting interpretations, Neuroblastoma, susceptibility to, 3; Hereditary cancer-predisposing syndrome
- P32Q (p.Pro32Gln), ExAC rs759748510, TOPMed rs759748510, gnomAD rs759748510, REVEL 0.04, MetaLR 0.24, Likely benign
- P32R (p.Pro32Arg), ExAC rs759748510, TOPMed rs759748510, gnomAD rs759748510, REVEL 0.03, MetaLR 0.24, Uncertain significance, Neuroblastoma, susceptibility to, 3; Hereditary cancer-predisposing syndrome
- P32S (p.Pro32Ser), 1000Genomes rs573276657, ExAC rs573276657, TOPMed rs573276657, gnomAD rs573276657, MetaLR 0.24, MetaSVM -0.92, Uncertain significance
- P32T (p.Pro32Thr), 1000Genomes rs573276657, ExAC rs573276657, TOPMed rs573276657, gnomAD rs573276657, REVEL 0.06, MetaLR 0.25, Uncertain significance, Hereditary cancer-predisposing syndrome
- A33D (p.Ala33Asp), TOPMed rs1037134870, REVEL 0.14, MetaLR 0.29, Uncertain significance
- A33G (p.Ala33Gly), rs1037134870, ClinGen CA45004785, ClinVar RCV001234580, TOPMed rs1037134870, REVEL 0.08, MetaLR 0.28, Uncertain significance, Neuroblastoma, susceptibility to, 3
- A33P (p.Ala33Pro), 1000Genomes rs1384517795, gnomAD rs1384517795, Uncertain significance, Hereditary cancer-predisposing syndrome
- A33S (p.Ala33Ser), rs1384517795, ClinGen CA346590701, ClinVar RCV003053263, ClinVar RCV004070326, REVEL 0.03, MetaLR 0.27, Uncertain significance, Neuroblastoma, susceptibility to, 3; Hereditary cancer-predisposing syndrome
- A33T (p.Ala33Thr), 1000Genomes rs1384517795, gnomAD rs1384517795, Uncertain significance
- A33V (p.Ala33Val), TOPMed rs1037134870, MetaLR 0.24, MetaSVM -0.93, Uncertain significance
- A34E (p.Ala34Glu), gnomAD rs1572503974, REVEL 0.07, MetaLR 0.17, Uncertain significance
- A34G (p.Ala34Gly), gnomAD rs1572503974, Uncertain significance
- A34P (p.Ala34Pro), gnomAD rs1667968251, REVEL 0.05, MetaLR 0.15, Uncertain significance, Hereditary cancer-predisposing syndrome
- A34T (p.Ala34Thr), gnomAD rs1667968251
- A34V (p.Ala34Val), rs1572503974, ClinGen CA346590691, ClinVar RCV000815730, ClinVar RCV002363130, REVEL 0.08, MetaLR 0.17, Uncertain significance, Neuroblastoma, susceptibility to, 3; Hereditary cancer-predisposing syndrome
- G35E (p.Gly35Glu), rs766479433, ClinGen CA1595047, ClinVar RCV001372289, ClinVar RCV002404887, REVEL 0.03, MetaLR 0.29, Uncertain significance, Hereditary cancer-predisposing syndrome; Neuroblastoma, susceptibility to, 3
- G35R (p.Gly35Arg), rs2148443908, ClinGen CA346590689, ClinVar RCV001870906, ClinVar RCV005341105, REVEL 0.03, MetaLR 0.29, Uncertain significance, Hereditary cancer-predisposing syndrome; Neuroblastoma, susceptibility to, 3
- G35V (p.Gly35Val), rs766479433, ClinGen CA346590686, ClinVar RCV003634363, ClinVar RCV005856557, MutPred 0.20, Uncertain significance, Neuroblastoma, susceptibility to, 3; Hereditary cancer-predisposing syndrome
- P36A (p.Pro36Ala), rs2465867581, ClinGen CA2580066362, ClinVar RCV002877278, Uncertain significance
- P36L (p.Pro36Leu), rs773691688, ClinGen CA1595046, ClinVar RCV000525534, ClinVar RCV002420484, REVEL 0.02, MetaLR 0.23, Likely benign
- P36Q (p.Pro36Gln), rs773691688, ClinGen CA346590683, ClinVar RCV001371085, ClinVar RCV002420832, REVEL 0.02, MetaLR 0.24, Conflicting interpretations, Hereditary cancer-predisposing syndrome; not provided; Neuroblastoma, susceptibi
- P36R (p.Pro36Arg), rs773691688, ClinGen CA346590682, ClinVar RCV001364672, ExAC rs773691688, MutPred 0.28, Uncertain significance, Neuroblastoma, susceptibility to, 3
- P36S (p.Pro36Ser), rs201490095, ClinGen CA156587, ClinVar RCV000119961, ClinVar RCV000459437, REVEL 0.09, MetaLR 0.20, Benign
- P37A (p.Pro37Ala), Ensembl rs2148443888
- P37L (p.Pro37Leu), rs1437432300, ClinGen CA346590676, ClinVar RCV001309484, ClinVar RCV005348431, REVEL 0.03, MetaLR 0.23, Conflicting interpretations, Hereditary cancer-predisposing syndrome; Neuroblastoma, susceptibility to, 3
- P37Q (p.Pro37Gln), gnomAD rs1437432300, REVEL 0.04, MetaLR 0.23, Uncertain significance
- P37R (p.Pro37Arg), gnomAD rs1437432300, Uncertain significance
- P37S (p.Pro37Ser), Ensembl rs2148443888, MetaLR 0.23, MetaSVM -0.93
- L38P (p.Leu38Pro), Ensembl rs2148443878, REVEL 0.06, MetaLR 0.24
- L38Q (p.Leu38Gln), Ensembl rs2148443878, MetaLR 0.24, MetaSVM -0.74
- Q39* (p.Gln39Ter), NCI-TCGA Cosmic COSV1012, CADD 38.00, Variant assessed as somatic; high impact.
- Q39H (p.Gln39His), rs1225169683, ClinGen CA346590663, ClinVar RCV002298120, TOPMed rs1225169683, REVEL 0.12, MetaLR 0.30, Uncertain significance, Hereditary cancer-predisposing syndrome
- Q39P (p.Gln39Pro), rs1667967646, ClinGen CA346590667, ClinVar RCV003028333, ClinVar RCV005585298, REVEL 0.16, MetaLR 0.20, Uncertain significance, Hereditary cancer-predisposing syndrome; Neuroblastoma, susceptibility to, 3
- P40A (p.Pro40Ala), rs371679329, ClinGen CA1595045, ClinVar RCV000812357, ClinVar RCV005338382, REVEL 0.14, MetaLR 0.44, Uncertain significance, Neuroblastoma, susceptibility to, 3; Hereditary cancer-predisposing syndrome
- P40H (p.Pro40His), rs200212200, ClinGen CA346590661, ClinVar RCV000690131, ClinVar RCV005004369, REVEL 0.16, MetaLR 0.44, Uncertain significance, Neuroblastoma, susceptibility to, 3; Hereditary cancer-predisposing syndrome; no
- P40L (p.Pro40Leu), rs200212200, ClinGen CA1595043, ClinVar RCV000822561, ClinVar RCV003320760, REVEL 0.22, MetaLR 0.44, Uncertain significance, Hereditary cancer-predisposing syndrome; Neuroblastoma, susceptibility to, 3; no
- P40S (p.Pro40Ser), rs371679329, ClinGen CA1595044, ClinVar RCV000544242, ClinVar RCV004722906, REVEL 0.15, MetaLR 0.44, Likely benign
- R41G (p.Arg41Gly), gnomAD rs878854653, REVEL 0.13, MetaLR 0.29, Uncertain significance, Hereditary cancer-predisposing syndrome
- R41Q (p.Arg41Gln), rs1572503919, ClinGen CA346590658, ClinVar RCV000795146, ClinVar RCV002370082, REVEL 0.04, MetaLR 0.26, Uncertain significance, Hereditary cancer-predisposing syndrome; Neuroblastoma, susceptibility to, 3
- R41W (p.Arg41Trp), rs878854653, ClinGen CA10581967, ClinVar RCV000234239, gnomAD rs878854653, REVEL 0.10, MetaLR 0.37, Likely benign
- E42D (p.Glu42Asp), Ensembl rs2148443843, Likely benign
Public ALK analysis runs
- ALK analysis run — ALK (6,292 variants) — completed 2026-08-10