NEB (Nebulin) variants and mutations
NEB (also known as Nebulin) is a human protein-coding gene encoding a nebulin protein. It spans much of the skeletal-muscle thin filament and acts as a molecular scaffold that helps specify filament length and optimize actin-myosin interaction. Biallelic pathogenic variants are a major cause of nemaline myopathy and related congenital myopathies. This analysis covers 11,016 NEB variants and mutations. Of these, 91% have computational variant effect predictions. Disease context includes nemaline myopathy 2, arthrogryposis multiplex congenita, and nemaline myopathy. Example NEB variants include A2E, A2S, and D3G.
Variant analysis overview
- Gene: NEB
- Protein: Nebulin
- UniProt accession: P20929
- Organism: Homo sapiens
- Variants analyzed: 11016
- Variant scope: all variants
- Completed: 2026-08-22
Variant and mutation evidence
- Variant composition: 10,792 unspecified-consequence records; 106 missense variants; 80 synonymous variants; 8 stop-gained variants; 18 frameshift variants; 2 in-frame insertions; 4 in-frame deletions; 3 splice-region variants; 2 substitution
- Prediction scores: 9,987 variants have prediction scores (91% of the analyzed set).
Clinical, disease, and population context
- Disease context: 25 disease associations are represented. Top associations: nemaline myopathy 2, arthrogryposis multiplex congenita, nemaline myopathy, hereditary disease, severe congenital nemaline myopathy, Abnormality of the skeletal system, typical nemaline myopathy, congenital myopathy, distal myopathy, childhood-onset nemaline myopathy, nebulin-related early-onset distal myopathy, intermediate nemaline myopathy.
Protein structure and variant hotspots
- Protein features: 1 domains.
- Structural context: 151 variants have structural context.
- Experimental data: 60 protein positions have experimental scores. Source: NEB SH3 domain domainome 1.0.
Data sources
Evidence in this analysis draws on EBI Proteins Variation, UniProt, gnomAD v4, EuropePMC, gnomAD constraint, Open Targets, ClinGen, MaveDB, LitVar.
Notable NEB variants
Examples include A2E, A2S, D3G, D4E, D4G, D4N, E5K, D6N. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.
- A2E (p.Ala2Glu), ExAC rs749557861, gnomAD rs749557861, REVEL 0.13, MetaLR 0.03
- A2S (p.Ala2Ser), cosmic curated COSV99425, ExAC rs771426165, gnomAD rs771426165, REVEL 0.10, MetaLR 0.03
- D3G (p.Asp3Gly), rs1245236784, ClinGen CA348797795, ClinVar RCV001323594, ClinVar RCV001815998, REVEL 0.67, MetaLR 0.02, Uncertain significance
- D4E (p.Asp4Glu), rs117178114, ClinGen CA348797759, ClinVar RCV001754166, 1000Genomes rs117178114, REVEL 0.08, MetaLR 0.01, Benign
- D4G (p.Asp4Gly), gnomAD rs2099813095, REVEL 0.04, MetaLR 0.01
- D4N (p.Asp4Asn), cosmic curated COSV10876, MetaLR 0.01, MetaSVM -0.90
- E5K (p.Glu5Lys), rs374390581, ClinGen CA1912042, cosmic curated COSV10438, ClinVar RCV000396002, REVEL 0.12, MetaLR 0.02, Uncertain significance
- D6N (p.Asp6Asn), cosmic curated COSV10504, MetaLR 0.00, MetaSVM -0.89
- D6Y (p.Asp6Tyr), cosmic curated COSV51451, REVEL 0.13, MetaLR 0.01
- Y7C (p.Tyr7Cys), cosmic curated COSV99429, REVEL 0.20, MetaLR 0.06
- Y7H (p.Tyr7His), cosmic curated COSV10803
- E8K (p.Glu8Lys), cosmic curated COSV51434
- E9K (p.Glu9Lys), rs2151148401, ClinGen CA348797598, ClinVar RCV002045398, ClinVar RCV005375014, AlphaMissense 0.53, MetaLR 0.03, Uncertain significance
- E9V (p.Glu9Val), TOPMed rs2099813079, MetaLR 0.04, MetaSVM -1.14
- V10G (p.Val10Gly), Ensembl rs1578228165, MetaLR 0.04, MetaSVM -1.05
- V11G (p.Val11Gly), Ensembl rs1578227997, MetaLR 0.02, MetaSVM -1.03
- V11L (p.Val11Leu), rs371035828, ClinGen CA1912041, ClinVar RCV003093407, ESP rs371035828, REVEL 0.03, MetaLR 0.01, Likely benign, Nemaline myopathy 2
- Y13* (p.Tyr13Ter), rs2552280866, ClinGen CA348797063, ClinVar RCV003515820, Pathogenic
- Y13C (p.Tyr13Cys), gnomAD rs2099800930, REVEL 0.14, MetaLR 0.05
- Y13D (p.Tyr13Asp), TOPMed rs1347004993, gnomAD rs1347004993, REVEL 0.12, MetaLR 0.05, Uncertain significance
- Y13H (p.Tyr13His), rs1347004993, ClinGen CA348797082, ClinVar RCV003132928, ClinVar RCV005060960, REVEL 0.13, MetaLR 0.04, Uncertain significance, Nemaline myopathy 2; not provided
- Y14C (p.Tyr14Cys), gnomAD rs1227854211, REVEL 0.14, MetaLR 0.03
- Y14D (p.Tyr14Asp), TOPMed rs1266356538, gnomAD rs1266356538, REVEL 0.10, MetaLR 0.03
- Y14H (p.Tyr14His), TOPMed rs1266356538, gnomAD rs1266356538, REVEL 0.10, MetaLR 0.03, Uncertain significance, Inborn genetic diseases
- T15A (p.Thr15Ala), rs918736685, ClinGen CA57654400, ClinVar RCV001221211, Ensembl rs918736685, REVEL 0.10, MetaLR 0.03, Uncertain significance
- T15P (p.Thr15Pro), Ensembl rs918736685, Uncertain significance
- E16G (p.Glu16Gly), rs748679499, ClinGen CA57654392, ClinVar RCV003093654, ExAC rs748679499, REVEL 0.11, MetaLR 0.04, Uncertain significance, Nemaline myopathy 2
- E16K (p.Glu16Lys), Ensembl rs865840464
- E16V (p.Glu16Val), rs748679499, ClinGen CA1912020, ClinVar RCV000346502, ClinVar RCV005632372, REVEL 0.13, MetaLR 0.05, Uncertain significance
- E17V (p.Glu17Val), TOPMed rs1290381958, gnomAD rs1290381958, REVEL 0.12, MetaLR 0.04
- V18A (p.Val18Ala), rs781637539, ClinGen CA1912019, ClinVar RCV001989720, ExAC rs781637539, REVEL 0.03, MetaLR 0.01, Uncertain significance
- V18L (p.Val18Leu), rs2150994592, ClinGen CA348796975, ClinVar RCV001365556, Ensembl rs2150994592, REVEL 0.03, MetaLR 0.01, Uncertain significance
- E21K (p.Glu21Lys), rs199907781, ClinGen CA1912016, cosmic curated COSV51469, ClinVar RCV000550343, REVEL 0.06, MetaLR 0.01, Uncertain significance
- E22G (p.Glu22Gly), rs1335474782, ClinGen CA348796870, ClinVar RCV001885516, TOPMed rs1335474782, REVEL 0.07, MetaLR 0.02, Uncertain significance
- E22K (p.Glu22Lys), rs2150994058, ClinGen CA348796879, cosmic curated COSV99426, ClinVar RCV001870911, AlphaMissense 0.13, MetaLR 0.02, Uncertain significance
- P24L (p.Pro24Leu), rs185496567, ClinGen CA1912014, ClinVar RCV000544716, ClinVar RCV003139774, REVEL 0.17, AlphaMissense 0.18, Benign
- P24Q (p.Pro24Gln), rs185496567, ClinGen CA348796819, ClinVar RCV002676152, AlphaMissense 0.18, MetaLR 0.04, Uncertain significance, Nemaline myopathy 2
- P24R (p.Pro24Arg), 1000Genomes rs185496567, ESP rs185496567, ExAC rs185496567, TOPMed rs185496567, REVEL 0.18, AlphaMissense 0.18, Benign
- G25A (p.Gly25Ala), gnomAD rs2099800858, REVEL 0.05, MetaLR 0.02
- G25E (p.Gly25Glu), rs2099800858, ClinGen CA348796784, ClinVar RCV002957228, REVEL 0.08, MetaLR 0.02, Uncertain significance, Nemaline myopathy 2
- E26* (p.Glu26Ter), cosmic curated COSV10455
- T27I (p.Thr27Ile), ExAC rs771560364, gnomAD rs771560364, REVEL 0.05, MetaLR 0.01
- I28T (p.Ile28Thr), cosmic curated COSV10504, MetaLR 0.02, MetaSVM -0.99
- T29A (p.Thr29Ala), rs1244801231, ClinGen CA348795951, ClinVar RCV002643020, gnomAD rs1244801231, REVEL 0.16, MetaLR 0.03, Uncertain significance, Nemaline myopathy 2
- K30N (p.Lys30Asn), gnomAD rs1219424825, REVEL 0.03, MetaLR 0.01
- K30R (p.Lys30Arg), gnomAD rs1559689542, REVEL 0.03, MetaLR 0.01
- I31M (p.Ile31Met), cosmic curated COSV50852
- I31V (p.Ile31Val), TOPMed rs1396987900, MetaLR 0.02, MetaSVM -1.03
- Y32C (p.Tyr32Cys), rs193227711, ClinGen CA1911994, ClinVar RCV001915710, 1000Genomes rs193227711, REVEL 0.13, MetaLR 0.02, Likely benign
- Y32F (p.Tyr32Phe), 1000Genomes rs193227711, ExAC rs193227711, TOPMed rs193227711, gnomAD rs193227711, REVEL 0.03, MetaLR 0.01, Likely benign
- E33K (p.Glu33Lys), ESP rs371598760, ExAC rs371598760, TOPMed rs371598760, gnomAD rs371598760, REVEL 0.18, MetaLR 0.04, Uncertain significance, not provided
- T34P (p.Thr34Pro), cosmic curated COSV99427
- T35M (p.Thr35Met), rs749153659, ClinGen CA1911992, ClinVar RCV001247258, ExAC rs749153659, REVEL 0.18, MetaLR 0.04, Likely benign
- T37K (p.Thr37Lys), cosmic curated COSV51097, MetaLR 0.01, MetaSVM -0.97
- R38M (p.Arg38Met), TOPMed rs2099795771, gnomAD rs2099795771, REVEL 0.05, MetaLR 0.01
- S40P (p.Ser40Pro), cosmic curated COSV10724
- D41E (p.Asp41Glu), cosmic curated COSV10803, Uncertain significance, Nemaline myopathy 2
- D41G (p.Asp41Gly), TOPMed rs2099795757
- D41N (p.Asp41Asn), Ensembl rs374929041, MetaLR 0.01, MetaSVM -1.01
- Y42* (p.Tyr42Ter), rs2552280353, ClinGen CA348795711, ClinVar RCV002309289, ClinVar RCV005254058, CADD 36.00, Pathogenic
- Y42C (p.Tyr42Cys), rs756162358, ClinGen CA1911991, ClinVar RCV001245384, ClinVar RCV005682558, REVEL 0.08, MetaLR 0.02, Likely benign
- E43A (p.Glu43Ala), rs752660824, ClinGen CA348795699, ClinVar RCV001044446, ExAC rs752660824, REVEL 0.02, MetaLR 0.01, Uncertain significance
- E43D (p.Glu43Asp), rs1290183134, ClinGen CA348795690, ClinVar RCV001918293, TOPMed rs1290183134, REVEL 0.09, MetaLR 0.01, Likely benign
- E43Q (p.Glu43Gln), rs1578040162, ClinGen CA348795705, ClinVar RCV000820458, Ensembl rs1578040162, REVEL 0.09, MetaLR 0.02, Uncertain significance
- E43V (p.Glu43Val), ExAC rs752660824, TOPMed rs752660824, gnomAD rs752660824, REVEL 0.03, MetaLR 0.01, Uncertain significance
- S45* (p.Ser45Ter), cosmic curated COSV10635, cosmic curated COSV99413, CADD 35.00
- S45L (p.Ser45Leu), Ensembl rs901064186, MetaLR 0.01, MetaSVM -0.91
- S45P (p.Ser45Pro), gnomAD rs1433653842, REVEL 0.01, MetaLR 0.01
- T47A (p.Thr47Ala), rs1348953506, ClinGen CA348795618, ClinVar RCV003628896, gnomAD rs1348953506, REVEL 0.03, MetaLR 0.01, Likely benign, Nemaline myopathy 2
- K49R (p.Lys49Arg), cosmic curated COSV50861, MetaLR 0.01, MetaSVM -0.95
- P50L (p.Pro50Leu), 1000Genomes rs1300745299, TOPMed rs1300745299, REVEL 0.06, MetaLR 0.02
- A51D (p.Ala51Asp), cosmic curated COSV51420, MetaLR 0.01, MetaSVM -1.00
- A51T (p.Ala51Thr), 1000Genomes rs553527829, ExAC rs553527829, gnomAD rs553527829, REVEL 0.06, MetaLR 0.01
- A51V (p.Ala51Val), cosmic curated COSV50835, ExAC rs773813211, TOPMed rs773813211, gnomAD rs773813211, REVEL 0.02, MetaLR 0.01
- L52M (p.Leu52Met), cosmic curated COSV51439
- L52P (p.Leu52Pro), TOPMed rs1349463332
- L52R (p.Leu52Arg), rs1349463332, ClinGen CA348795434, ClinVar RCV003037716, AlphaMissense 0.07, MetaLR 0.01, Uncertain significance, Nemaline myopathy 2
- L52V (p.Leu52Val), cosmic curated COSV99429, TOPMed rs2099795688
- A53G (p.Ala53Gly), TOPMed rs1167702795, gnomAD rs1167702795
- A53T (p.Ala53Thr), cosmic curated COSV50875
- A53V (p.Ala53Val), TOPMed rs1167702795, gnomAD rs1167702795, REVEL 0.07, MetaLR 0.01
- A56E (p.Ala56Glu), rs1450050890, ClinGen CA348795383, ClinVar RCV003488130, TOPMed rs1450050890, REVEL 0.01, MetaLR 0.01, Uncertain significance, not provided
- Q59* (p.Gln59Ter), rs867732907, ClinGen CA348795325, ClinVar RCV001383953, ClinVar RCV005237772, AlphaMissense 0.07, MetaLR 0.01, Pathogenic
- Q59E (p.Gln59Glu), rs867732907, ClinGen CA348795332, ClinVar RCV002028768, Ensembl rs867732907, REVEL 0.01, AlphaMissense 0.07, Pathogenic
- Q59H (p.Gln59His), rs200990309, ClinGen CA348795308, ClinVar RCV001973778, 1000Genomes rs200990309, AlphaMissense 0.15, MetaLR 0.01, Uncertain significance
- Q59K (p.Gln59Lys), Ensembl rs867732907, REVEL 0.01, AlphaMissense 0.07, Pathogenic
- P60L (p.Pro60Leu), gnomAD rs1477707498, REVEL 0.03, MetaLR 0.01
- P60T (p.Pro60Thr), rs2552280321, ClinGen CA348795301, ClinVar RCV003132953, Uncertain significance, not provided
- A61E (p.Ala61Glu), cosmic curated COSV51443
- A61G (p.Ala61Gly), rs2099795617, ClinGen CA348795281, ClinVar RCV001920944, TOPMed rs2099795617, AlphaMissense 0.10, MetaLR 0.01, Uncertain significance
- A61S (p.Ala61Ser), cosmic curated COSV51075, MetaLR 0.01, MetaSVM -0.94
- S62A (p.Ser62Ala), TOPMed rs2099795609, REVEL 0.02, MetaLR 0.01
- S62L (p.Ser62Leu), rs764417105, ClinGen CA1911978, cosmic curated COSV50901, ClinVar RCV001128709, REVEL 0.07, MetaLR 0.01, Uncertain significance
- K64E (p.Lys64Glu), 1000Genomes rs565823706, REVEL 0.03, MetaLR 0.01
- P65L (p.Pro65Leu), rs375909006, ClinGen CA1911976, ClinVar RCV000214047, ClinVar RCV000558344, REVEL 0.12, MetaLR 0.02, Uncertain significance
- P65S (p.Pro65Ser), cosmic curated COSV10724, MetaLR 0.02, MetaSVM -0.95
- V66G (p.Val66Gly), TOPMed rs2099795590, MetaLR 0.01, MetaSVM -0.97
- E67G (p.Glu67Gly), TOPMed rs1463987093, gnomAD rs1463987093, REVEL 0.04, MetaLR 0.01
- R68K (p.Arg68Lys), rs1014627144, ClinGen CA16617249, cosmic curated COSV51157, ClinVar RCV000484147, REVEL 0.21, MetaLR 0.04, Likely benign
- R69K (p.Arg69Lys), rs1299743556, ClinGen CA348795137, ClinVar RCV003860906, ClinVar RCV004784191, REVEL 0.06, MetaLR 0.01, Conflicting interpretations, not provided; Nemaline myopathy 2
- I72V (p.Ile72Val), rs1553698165, ClinGen CA348795044, ClinVar RCV000641341, Ensembl rs1553698165, AlphaMissense 0.09, MetaLR 0.01, Uncertain significance
- R73Q (p.Arg73Gln), rs727504037, ClinGen CA234356, cosmic curated COSV51352, ClinVar RCV000153556, REVEL 0.12, MetaLR 0.02, Likely benign
- R73W (p.Arg73Trp), rs77994592, ClinGen CA1911974, ClinVar RCV000536943, ClinVar RCV001199841, REVEL 0.15, MetaLR 0.02, Likely benign
- K74N (p.Lys74Asn), ExAC rs748919494, gnomAD rs748919494, MetaLR 0.02, MetaSVM -0.93
- K75I (p.Lys75Ile), ExAC rs777761921, gnomAD rs777761921, REVEL 0.23, MetaLR 0.05
- K75R (p.Lys75Arg), ExAC rs777761921, gnomAD rs777761921, REVEL 0.16, MetaLR 0.04
- V76M (p.Val76Met), cosmic curated COSV10504
- D77G (p.Asp77Gly), rs2099795533, ClinGen CA348794880, ClinVar RCV003065139, Ensembl rs2099795533, REVEL 0.28, MetaLR 0.05, Uncertain significance, Nemaline myopathy 2
- P78L (p.Pro78Leu), cosmic curated COSV51356, MetaLR 0.01, MetaSVM -0.94
- P78S (p.Pro78Ser), cosmic curated COSV51470, gnomAD rs2099795522, REVEL 0.02, MetaLR 0.00
- P78T (p.Pro78Thr), gnomAD rs2099795522, REVEL 0.03, MetaLR 0.01, Uncertain significance, Inborn genetic diseases
- S79L (p.Ser79Leu), cosmic curated COSV10455, MetaLR 0.04, MetaSVM -1.07
- F81L (p.Phe81Leu), cosmic curated COSV51368, MetaLR 0.02, MetaSVM -1.00
- M82V (p.Met82Val), rs587780398, ClinGen CA231317, ClinVar RCV000117751, ClinVar RCV000665601, REVEL 0.14, MetaLR 0.02, Uncertain significance
- T83N (p.Thr83Asn), ExAC rs781120429, gnomAD rs781120429, REVEL 0.32, MetaLR 0.39
- P84T (p.Pro84Thr), cosmic curated COSV50822
- Y85* (p.Tyr85Ter), cosmic curated COSV50907
- Y85C (p.Tyr85Cys), rs1201662596, ClinGen CA348794636, ClinVar RCV002019864, gnomAD rs1201662596, REVEL 0.28, MetaLR 0.23, Uncertain significance
- I86M (p.Ile86Met), ExAC rs764472169, TOPMed rs764472169, gnomAD rs764472169, MetaLR 0.15, MetaSVM -0.94, Likely benign
- I86N (p.Ile86Asn), ExAC rs754008028, TOPMed rs754008028, gnomAD rs754008028, REVEL 0.30, MetaLR 0.22, Likely benign
- I86T (p.Ile86Thr), rs754008028, ClinGen CA1911965, ClinVar RCV003026597, ExAC rs754008028, REVEL 0.29, MetaLR 0.22, Likely benign, Nemaline myopathy 2
- I86V (p.Ile86Val), gnomAD rs1251337477, REVEL 0.15, MetaLR 0.15
- H88Y (p.His88Tyr), TOPMed rs1217590967, gnomAD rs1217590967, REVEL 0.29, MetaLR 0.22
- S89G (p.Ser89Gly), gnomAD rs1209969443, REVEL 0.18, MetaLR 0.19
- Q90E (p.Gln90Glu), gnomAD rs1313274848, REVEL 0.12, MetaLR 0.14
- M92T (p.Met92Thr), ExAC rs760962104, gnomAD rs760962104, REVEL 0.24, MetaLR 0.08
- M92V (p.Met92Val), TOPMed rs1251772683, REVEL 0.15, MetaLR 0.13
- D94E (p.Asp94Glu), rs967516240, ClinGen CA57653225, ClinVar RCV004485213, gnomAD rs967516240, REVEL 0.05, MetaLR 0.04, Uncertain significance, Inborn genetic diseases
- D94Y (p.Asp94Tyr), TOPMed rs1355425394, gnomAD rs1355425394, REVEL 0.26, MetaLR 0.17
- L95I (p.Leu95Ile), rs1021687758, ClinGen CA57653215, ClinVar RCV002942709, TOPMed rs1021687758, REVEL 0.08, MetaLR 0.09, Likely benign, Nemaline myopathy 2
- L95V (p.Leu95Val), TOPMed rs1021687758, gnomAD rs1021687758, Likely benign
- F96S (p.Phe96Ser), ExAC rs753157636, gnomAD rs753157636, REVEL 0.18, MetaLR 0.20
- S97N (p.Ser97Asn), gnomAD rs1287259842, REVEL 0.50, MetaLR 0.67
- P98L (p.Pro98Leu), rs201473194, ClinGen CA1911961, ClinVar RCV000873976, ClinVar RCV003226987, REVEL 0.11, MetaLR 0.07, Likely benign
- N99I (p.Asn99Ile), rs1321273866, ClinGen CA348794019, ClinVar RCV002651202, gnomAD rs1321273866, REVEL 0.22, MetaLR 0.13, Uncertain significance, Nemaline myopathy 2
- Y101* (p.Tyr101Ter), ExAC rs760147050, CADD 37.00, Pathogenic
- K102E (p.Lys102Glu), Ensembl rs2150800053, REVEL 0.37, MetaLR 0.39
- K102N (p.Lys102Asn), rs751951834, ClinGen CA348793967, ClinVar RCV003818857, ExAC rs751951834, REVEL 0.27, MetaLR 0.33, Likely benign, Nemaline myopathy 2
- E103K (p.Glu103Lys), ESP rs372579696, ExAC rs372579696, TOPMed rs372579696, gnomAD rs372579696, REVEL 0.05, MetaLR 0.14, Benign
- E103Q (p.Glu103Gln), rs372579696, ClinGen CA1911939, ClinVar RCV002904829, ClinVar RCV003134538, REVEL 0.06, MetaLR 0.21, Conflicting interpretations, not provided; Nemaline myopathy 2; Inborn genetic diseases
- K104N (p.Lys104Asn), ExAC rs773017505, gnomAD rs773017505, REVEL 0.09, MetaLR 0.02, Likely benign
- K104T (p.Lys104Thr), rs994980701, ClinGen CA57651781, cosmic curated COSV51367, ClinVar RCV003131739, REVEL 0.07, MetaLR 0.10, Uncertain significance, Inborn genetic diseases; not provided
- E106D (p.Glu106Asp), gnomAD rs2099787921, REVEL 0.11, MetaLR 0.18
- E106G (p.Glu106Gly), cosmic curated COSV51449, MetaLR 0.27, MetaSVM -0.72
- T108A (p.Thr108Ala), rs544069233, ClinGen CA1911937, ClinVar RCV000641465, ClinVar RCV005438907, REVEL 0.03, MetaLR 0.03, Likely benign
- T108I (p.Thr108Ile), cosmic curated COSV51426, MetaLR 0.09, MetaSVM -1.05
- T108K (p.Thr108Lys), TOPMed rs75333635, gnomAD rs75333635, REVEL 0.07, MetaLR 0.07
- G110A (p.Gly110Ala), rs761337214, ClinGen CA1911936, ClinVar RCV003088534, ExAC rs761337214, REVEL 0.29, MetaLR 0.31, Likely benign, Nemaline myopathy 2
- G110E (p.Gly110Glu), ExAC rs761337214, TOPMed rs761337214, gnomAD rs761337214, REVEL 0.35, MetaLR 0.38, Uncertain significance, Inborn genetic diseases
- G110R (p.Gly110Arg), rs886043647, ClinGen CA10605781, ClinVar RCV000336105, Ensembl rs886043647, REVEL 0.38, MetaLR 0.30, Uncertain significance
- Q111* (p.Gln111Ter), rs2552279991, ClinGen CA348793775, ClinVar RCV003516572, Pathogenic
- Q111H (p.Gln111His), cosmic curated COSV51126
- P112L (p.Pro112Leu), ExAC rs768281385, gnomAD rs768281385, REVEL 0.38, MetaLR 0.03, Uncertain significance, Nemaline myopathy 2
- P112T (p.Pro112Thr), rs369292364, ClinGen CA1911935, ClinVar RCV001992264, ClinVar RCV005439051, REVEL 0.28, MetaLR 0.03, Uncertain significance
- Y113C (p.Tyr113Cys), 1000Genomes rs200154617, MetaLR 0.03, MetaSVM -1.15
- A114D (p.Ala114Asp), cosmic curated COSV51450, MetaLR 0.03, MetaSVM -1.02
- A114T (p.Ala114Thr), rs779928749, ClinGen CA1911932, ClinVar RCV000499586, ClinVar RCV002524232, REVEL 0.09, MetaLR 0.01, Conflicting interpretations, not specified; Nemaline myopathy 2
- A114V (p.Ala114Val), rs1243797690, ClinGen CA348793704, ClinVar RCV003629796, TOPMed rs1243797690, REVEL 0.13, MetaLR 0.03, Likely benign, Nemaline myopathy 2
- T116A (p.Thr116Ala), Ensembl rs906530273, REVEL 0.13, MetaLR 0.02
- T116K (p.Thr116Lys), TOPMed rs2099787854, MetaLR 0.02, MetaSVM -1.03
- T117A (p.Thr117Ala), TOPMed rs1453835986, gnomAD rs1453835986, REVEL 0.02, MetaLR 0.01, Uncertain significance, not provided
- T117K (p.Thr117Lys), cosmic curated COSV51469, MetaLR 0.01, MetaSVM -0.91
- D118A (p.Asp118Ala), gnomAD rs1317101878, REVEL 0.58, MetaLR 0.45
- D118N (p.Asp118Asn), cosmic curated COSV51433
- D118Y (p.Asp118Tyr), rs2552279986, ClinGen CA348793642, ClinVar RCV002811904, Uncertain significance, Nemaline myopathy 2
- T119A (p.Thr119Ala), rs182207224, ClinGen CA1911931, ClinVar RCV000821137, ClinVar RCV001550148, REVEL 0.26, MetaLR 0.27, Uncertain significance
- P120S (p.Pro120Ser), TOPMed rs1379863774, gnomAD rs1379863774, REVEL 0.50, MetaLR 0.52
- E121Q (p.Glu121Gln), ExAC rs749419926, gnomAD rs749419926, REVEL 0.32, MetaLR 0.39
- R123C (p.Arg123Cys), rs200555425, ClinGen CA1911929, cosmic curated COSV50807, ClinVar RCV000641390, REVEL 0.27, MetaLR 0.30, Uncertain significance
- R123H (p.Arg123His), rs546250852, ClinGen CA1911928, ClinVar RCV000823845, ClinVar RCV005250122, REVEL 0.25, MetaLR 0.30, Likely benign
- R123L (p.Arg123Leu), rs546250852, ClinGen CA348793530, ClinVar RCV003131722, 1000Genomes rs546250852, REVEL 0.24, MetaLR 0.09, Uncertain significance, not provided
- R124K (p.Arg124Lys), cosmic curated COSV10724, MetaLR 0.37, MetaSVM -0.33
- R124T (p.Arg124Thr), rs748303993, ClinGen CA1911927, ClinVar RCV003630626, ExAC rs748303993, REVEL 0.39, MetaLR 0.35, Likely benign, Nemaline myopathy 2
- I125L (p.Ile125Leu), TOPMed rs1463756656, gnomAD rs1463756656, REVEL 0.14, MetaLR 0.12
- I125M (p.Ile125Met), TOPMed rs753284331, gnomAD rs753284331, REVEL 0.18, MetaLR 0.24, Likely benign
- K127T (p.Lys127Thr), gnomAD rs1293094510, REVEL 0.36, MetaLR 0.33
- V128I (p.Val128Ile), Ensembl rs2099787770
- V128L (p.Val128Leu), cosmic curated COSV51423
- Q129K (p.Gln129Lys), ExAC rs781629280, gnomAD rs781629280, REVEL 0.27, MetaLR 0.27
- D130E (p.Asp130Glu), rs2099787749, ClinGen CA348793363, ClinVar RCV001298877, TOPMed rs2099787749, REVEL 0.10, MetaLR 0.04, Uncertain significance
Public NEB analysis runs
- NEB analysis run — NEB (11,016 variants) — completed 2026-08-22