| Disease associated variation - ClinVar |
| Allele ID | Type | Name | RS#dbSNP | Phenotype IDs | Chromosome | Start | Stop | Reference | Alternate |
|---|
| 26486 | deletion | IKBKG, EXON 4-10 DEL | -1 | MedGen:C0021171,OMIM:308300,Orphanet:ORPHA464,SNOMED CT:C0021171 | na | -1 | -1 | na | na |
| 26487 | insertion | IKBKG, 1-BP INS, 1110C | -1 | MedGen:C0021171,OMIM:308300,Orphanet:ORPHA464,SNOMED CT:C0021171 | na | -1 | -1 | na | na |
| 26488 | single nucleotide variant | NM_003639.4(IKBKG):c.1219A>G (p.Met407Val) | 137853322 | MedGen:C0021171,OMIM:308300,Orphanet:ORPHA464,SNOMED CT:C0021171 | X | 153792635 | 153792635 | A | G |
| 26488 | single nucleotide variant | NM_003639.4(IKBKG):c.1219A>G (p.Met407Val) | 137853322 | MedGen:C0021171,OMIM:308300,Orphanet:ORPHA464,SNOMED CT:C0021171 | X | 154564420 | 154564420 | A | G |
| 26489 | single nucleotide variant | NM_003639.4(IKBKG):c.1259A>G (p.Ter420Trp) | 137853321 | MedGen:C1845919,OMIM:300301,Orphanet:ORPHA69088;MedGen:C0021171,OMIM:308300,Orphanet:ORPHA464,SNOMED CT:C0021171 | X | 153792675 | 153792675 | A | G |
| 26489 | single nucleotide variant | NM_003639.4(IKBKG):c.1259A>G (p.Ter420Trp) | 137853321 | MedGen:C1845919,OMIM:300301,Orphanet:ORPHA69088;MedGen:C0021171,OMIM:308300,Orphanet:ORPHA464,SNOMED CT:C0021171 | X | 154564460 | 154564460 | A | G |
| 26490 | insertion | IKBKG, 10-BP INS, NT127 | -1 | MedGen:C0021171,OMIM:308300,Orphanet:ORPHA464,SNOMED CT:C0021171 | na | -1 | -1 | na | na |
| 26491 | single nucleotide variant | NM_003639.4(IKBKG):c.184C>T (p.Arg62Ter) | 137853323 | MedGen:C0021171,OMIM:308300,Orphanet:ORPHA464,SNOMED CT:C0021171;MedGen:CN221809 | X | 153780401 | 153780401 | C | T |
| 26491 | single nucleotide variant | NM_003639.4(IKBKG):c.184C>T (p.Arg62Ter) | 137853323 | MedGen:C0021171,OMIM:308300,Orphanet:ORPHA464,SNOMED CT:C0021171;MedGen:CN221809 | X | 154552186 | 154552186 | C | T |
| 26492 | single nucleotide variant | NM_003639.4(IKBKG):c.1171G>T (p.Glu391Ter) | 137853324 | MedGen:C1846006,OMIM:300291 | X | 153792587 | 153792587 | G | T |
| 26492 | single nucleotide variant | NM_003639.4(IKBKG):c.1171G>T (p.Glu391Ter) | 137853324 | MedGen:C1846006,OMIM:300291 | X | 154564372 | 154564372 | G | T |
| 26493 | single nucleotide variant | NM_003639.4(IKBKG):c.1249T>C (p.Cys417Arg) | 137853325 | MedGen:CN043445;MedGen:C1846006,OMIM:300291 | X | 153792665 | 153792665 | T | C |
| 26493 | single nucleotide variant | NM_003639.4(IKBKG):c.1249T>C (p.Cys417Arg) | 137853325 | MedGen:CN043445;MedGen:C1846006,OMIM:300291 | X | 154564450 | 154564450 | T | C |
| 26494 | duplication | IKBKG, 1-BP DUP, 1167C | -1 | MedGen:C1846006,OMIM:300291;MedGen:CN231145 | na | -1 | -1 | na | na |
| 26495 | single nucleotide variant | NM_003639.4(IKBKG):c.1250G>T (p.Cys417Phe) | 137853326 | MedGen:C1846006,OMIM:300291;MedGen:CN221809 | X | 153792666 | 153792666 | G | T |
| 26495 | single nucleotide variant | NM_003639.4(IKBKG):c.1250G>T (p.Cys417Phe) | 137853326 | MedGen:C1846006,OMIM:300291;MedGen:CN221809 | X | 154564451 | 154564451 | G | T |
| 26496 | single nucleotide variant | NM_003639.4(IKBKG):c.1217A>T (p.Asp406Val) | 137853327 | MedGen:CN043445;MedGen:C1846006,OMIM:300291 | X | 153792633 | 153792633 | A | T |
| 26496 | single nucleotide variant | NM_003639.4(IKBKG):c.1217A>T (p.Asp406Val) | 137853327 | MedGen:CN043445;MedGen:C1846006,OMIM:300291 | X | 154564418 | 154564418 | A | T |
| 26497 | duplication | IKBKG, 13-BP DUP, NT1166 | -1 | MedGen:CN231145 | na | -1 | -1 | na | na |
| 26498 | duplication | IKBKG, 4.4-KB DUP | -1 | MedGen:C1846006,OMIM:300291 | na | -1 | -1 | na | na |
| 26499 | single nucleotide variant | NM_003639.4(IKBKG):c.458T>G (p.Leu153Arg) | 137853328 | MedGen:C1846006,OMIM:300291 | X | 153786805 | 153786805 | T | G |
| 26499 | single nucleotide variant | NM_003639.4(IKBKG):c.458T>G (p.Leu153Arg) | 137853328 | MedGen:C1846006,OMIM:300291 | X | 154558590 | 154558590 | T | G |
| 26500 | single nucleotide variant | NM_003639.4(IKBKG):c.1207C>T (p.Gln403Ter) | 137853329 | MedGen:C1846006,OMIM:300291 | X | 153792623 | 153792623 | C | T |
| 26500 | single nucleotide variant | NM_003639.4(IKBKG):c.1207C>T (p.Gln403Ter) | 137853329 | MedGen:C1846006,OMIM:300291 | X | 154564408 | 154564408 | C | T |
| 26501 | single nucleotide variant | IKBKG, IVS6DS, G-A, +5 | -1 | MedGen:C1846006,OMIM:300291 | na | -1 | -1 | na | na |
| 26502 | insertion | IKBKG, 1-BP INS, 1409A | -1 | MedGen:C1846006,OMIM:300291 | na | -1 | -1 | na | na |
| 26503 | single nucleotide variant | IKBKG, IVS8, -1, G-A | -1 | MedGen:C1845117,OMIM:300584 | na | -1 | -1 | na | na |
| 26504 | insertion | IKBKG, 1-BP INS, 110C | -1 | MedGen:C1845117,OMIM:300584 | na | -1 | -1 | na | na |
| 26505 | single nucleotide variant | NM_003639.4(IKBKG):c.863C>G (p.Ala288Gly) | 137853330 | MedGen:C1846007 | X | 153791119 | 153791119 | C | G |
| 26505 | single nucleotide variant | NM_003639.4(IKBKG):c.863C>G (p.Ala288Gly) | 137853330 | MedGen:C1846007 | X | 154562904 | 154562904 | C | G |
| 26506 | single nucleotide variant | NM_003639.4(IKBKG):c.944A>C (p.Glu315Ala) | 137853331 | MedGen:C1970879,OMIM:300636,Orphanet:ORPHA319612 | X | 153791805 | 153791805 | A | C |
| 26506 | single nucleotide variant | NM_003639.4(IKBKG):c.944A>C (p.Glu315Ala) | 137853331 | MedGen:C1970879,OMIM:300636,Orphanet:ORPHA319612 | X | 154563590 | 154563590 | A | C |
| 26507 | single nucleotide variant | NM_003639.4(IKBKG):c.956G>A (p.Arg319Gln) | 137853332 | MedGen:C1970879,OMIM:300636,Orphanet:ORPHA319612 | X | 153791817 | 153791817 | G | A |
| 26507 | single nucleotide variant | NM_003639.4(IKBKG):c.956G>A (p.Arg319Gln) | 137853332 | MedGen:C1970879,OMIM:300636,Orphanet:ORPHA319612 | X | 154563602 | 154563602 | G | A |
| 26508 | single nucleotide variant | NM_003639.4(IKBKG):c.517C>G (p.Arg173Gly) | 179363866 | MedGen:C1845073,OMIM:300640;MedGen:CN221809 | X | 153786864 | 153786864 | C | G |
| 26508 | single nucleotide variant | NM_003639.4(IKBKG):c.517C>G (p.Arg173Gly) | 179363866 | MedGen:C1845073,OMIM:300640;MedGen:CN221809 | X | 154558649 | 154558649 | C | G |
| 45041 | single nucleotide variant | NM_003639.4(IKBKG):c.1056-18C>T | 386134237 | MedGen:C1846006,OMIM:300291 | X | 153792156 | 153792156 | C | T |
| 45041 | single nucleotide variant | NM_003639.4(IKBKG):c.1056-18C>T | 386134237 | MedGen:C1846006,OMIM:300291 | X | 154563941 | 154563941 | C | T |
| 45042 | single nucleotide variant | NM_003639.4(IKBKG):c.1056-6T>C | 201709278 | MedGen:C1846006,OMIM:300291 | X | 153792168 | 153792168 | T | C |
| 45042 | single nucleotide variant | NM_003639.4(IKBKG):c.1056-6T>C | 201709278 | MedGen:C1846006,OMIM:300291 | X | 154563953 | 154563953 | C | C |
| 45043 | deletion | NM_003639.4(IKBKG):c.265_267delGAG (p.Glu89del) | 386134238 | MedGen:C1846006,OMIM:300291 | X | 153784457 | 153784459 | GAG | - |
| 45043 | deletion | NM_003639.4(IKBKG):c.265_267delGAG (p.Glu89del) | 386134238 | MedGen:C1846006,OMIM:300291 | X | 154556242 | 154556244 | GAG | - |
| 45044 | single nucleotide variant | NM_003639.4(IKBKG):c.399+19G>C | 386134239 | MedGen:C1846006,OMIM:300291 | X | 153784610 | 153784610 | G | C |
| 45044 | single nucleotide variant | NM_003639.4(IKBKG):c.399+19G>C | 386134239 | MedGen:C1846006,OMIM:300291 | X | 154556395 | 154556395 | G | C |
| 45045 | single nucleotide variant | NM_003639.4(IKBKG):c.470A>C (p.Gln157Pro) | 386134240 | MedGen:C1846006,OMIM:300291 | X | 153786817 | 153786817 | A | C |
| 45045 | single nucleotide variant | NM_003639.4(IKBKG):c.470A>C (p.Gln157Pro) | 386134240 | MedGen:C1846006,OMIM:300291 | X | 154558602 | 154558602 | A | C |
| 45046 | single nucleotide variant | NM_003639.4(IKBKG):c.518+7C>T | 386134241 | MedGen:C1846006,OMIM:300291 | X | 153786872 | 153786872 | C | T |
| 45046 | single nucleotide variant | NM_003639.4(IKBKG):c.518+7C>T | 386134241 | MedGen:C1846006,OMIM:300291 | X | 154558657 | 154558657 | C | T |
| 79124 | single nucleotide variant | NM_003639.4(IKBKG):c.1250G>A (p.Cys417Tyr) | 137853326 | MedGen:CN221809 | X | 153792666 | 153792666 | G | A |
| 79124 | single nucleotide variant | NM_003639.4(IKBKG):c.1250G>A (p.Cys417Tyr) | 137853326 | MedGen:CN221809 | X | 154564451 | 154564451 | G | A |
| 79125 | single nucleotide variant | NM_003639.4(IKBKG):c.169G>A (p.Glu57Lys) | 148695964 | MedGen:CN221809 | X | 153780386 | 153780386 | G | A |
| 79125 | single nucleotide variant | NM_003639.4(IKBKG):c.169G>A (p.Glu57Lys) | 148695964 | MedGen:CN221809 | X | 154552171 | 154552171 | G | A |
| 79126 | single nucleotide variant | NM_003639.4(IKBKG):c.337G>A (p.Asp113Asn) | 179363896 | MedGen:CN221809 | X | 153784529 | 153784529 | G | A |
| 79126 | single nucleotide variant | NM_003639.4(IKBKG):c.337G>A (p.Asp113Asn) | 179363896 | MedGen:CN221809 | X | 154556314 | 154556314 | G | A |
| 79127 | single nucleotide variant | NM_003639.4(IKBKG):c.367C>T (p.Arg123Trp) | 179363895 | MedGen:CN221809 | X | 153784559 | 153784559 | C | T |
| 79127 | single nucleotide variant | NM_003639.4(IKBKG):c.367C>T (p.Arg123Trp) | 179363895 | MedGen:CN221809 | X | 154556344 | 154556344 | C | T |
| 79128 | single nucleotide variant | NM_003639.4(IKBKG):c.524G>C (p.Arg175Pro) | 179363868 | MedGen:CN221809 | X | 153788627 | 153788627 | G | C |
| 79128 | single nucleotide variant | NM_003639.4(IKBKG):c.524G>C (p.Arg175Pro) | 179363868 | MedGen:CN221809 | X | 154560412 | 154560412 | G | C |
| 79129 | single nucleotide variant | NM_003639.4(IKBKG):c.680T>C (p.Leu227Pro) | 179363869 | MedGen:CN221809 | X | 153789911 | 153789911 | T | C |
| 79129 | single nucleotide variant | NM_003639.4(IKBKG):c.680T>C (p.Leu227Pro) | 179363869 | MedGen:CN221809 | X | 154561696 | 154561696 | T | C |
| 79130 | single nucleotide variant | NM_003639.4(IKBKG):c.931G>A (p.Asp311Asn) | 179363867 | MedGen:CN221809 | X | 153791792 | 153791792 | G | A |
| 79130 | single nucleotide variant | NM_003639.4(IKBKG):c.931G>A (p.Asp311Asn) | 179363867 | MedGen:CN221809 | X | 154563577 | 154563577 | G | A |
| 79131 | single nucleotide variant | NM_003639.4(IKBKG):c.967G>C (p.Ala323Pro) | 179363865 | MedGen:CN221809 | X | 153791828 | 153791828 | G | C |
| 79131 | single nucleotide variant | NM_003639.4(IKBKG):c.967G>C (p.Ala323Pro) | 179363865 | MedGen:CN221809 | X | 154563613 | 154563613 | G | C |
| 360550 | deletion | NM_003639.4(IKBKG):c.220delG (p.Glu74Serfs) | 1057517874 | MedGen:CN221809 | X | 154556197 | 154556197 | G | - |
| 360550 | deletion | NM_003639.4(IKBKG):c.220delG (p.Glu74Serfs) | 1057517874 | MedGen:CN221809 | X | 153784412 | 153784412 | G | - |
| 360602 | duplication | NM_003639.4(IKBKG):c.1167dupC (p.Glu390Argfs) | 1057517748 | MedGen:CN221809 | X | 153792583 | 153792583 | C | CC |
| 360602 | duplication | NM_003639.4(IKBKG):c.1167dupC (p.Glu390Argfs) | 1057517748 | MedGen:CN221809 | X | 154564368 | 154564368 | C | CC |
| 360669 | single nucleotide variant | NM_003639.4(IKBKG):c.672-2A>G | 1057517746 | MedGen:CN221809 | X | 154561686 | 154561686 | A | G |
| 360669 | single nucleotide variant | NM_003639.4(IKBKG):c.672-2A>G | 1057517746 | MedGen:CN221809 | X | 153789901 | 153789901 | A | G |