| - GRCh37:
- Chr6:45649408-54076842
- GRCh38:
- Chr6:45681671-54212044
| ADGRF1, ADGRF2, ADGRF4, ADGRF5, ADGRF5-AS1, ANKRD66, C6orf141, CD2AP, CENPQ, CILK1, CLIC5, CRISP1, CRISP2, CRISP3, CYP39A1, DEFB110, DEFB112, DEFB113, DEFB114, EFHC1, ELOVL5, ENPP4, ENPP5, FBXO9, GCLC, GCM1, GLYATL3, GSTA1, GSTA2, GSTA3, GSTA4, GSTA5, IL17A, IL17F, KLHL31, LINC01564, LINCMD1, LOC101926915, LOC101927020, LOC101927048, LOC101927082, LOC101927136, LOC101927189, LOC110120617, LOC110120792, LOC110121112, LOC110121250, LOC111365194, LOC111429620, LOC113175006, LOC113175007, LOC114004401, LOC114004402, LOC116183064, LOC121132687, LOC121132688, LOC121740649, LOC121740650, LOC121740651, LOC121740652, LOC123744814, LOC123744815, LOC123744816, LOC123744817, LOC123744818, LOC123744819, LOC123744820, LOC123744821, LOC123744822, LOC123744823, LOC123744824, LOC123744825, LOC123744826, LOC123744827, LOC123744828, LOC730101, LRRC1, MCM3, MEP1A, MIR133B, MIR206, MIR5685, MLIP, MLIP-AS1, MLIP-IT1, MMUT, OPN5, PAQR8, PGK2, PKHD1, PLA2G7, PTCHD4, RCAN2, RCAN2-DT, RHAG, RN7SK, SLC25A27, TDRD6, TDRD6-AS1, TFAP2B, TFAP2D, TMEM14A, TNFRSF21, TRAM2, TRAM2-AS1 | | See cases | Pathogenic (Aug 20, 2012) | no assertion criteria provided | VCV000149301 |
| - GRCh37:
- Chr6:47159515-51292104
- GRCh38:
- Chr6:47191779-51427306
| LOC123744815, LOC123744816, LOC123744817, LOC123744818, LOC123744819, MMUT, OPN5, PGK2, PTCHD4, RHAG, TFAP2B, TFAP2D, TNFRSF21, ADGRF2, ADGRF4, C6orf141, CD2AP, CENPQ, CRISP1, CRISP2, CRISP3, DEFB110, DEFB112, DEFB113, DEFB114, GLYATL3, LOC101927020, LOC101927048, LOC110120617, LOC110120792, LOC111429620, LOC114004402, LOC116183064, LOC121132687, LOC121740649 | | See cases | Likely pathogenic (Mar 24, 2014) | no assertion criteria provided | VCV000153225 |
| - GRCh37:
- Chr6:50786571
- GRCh38:
- Chr6:50818858
| TFAP2B | | Char syndrome, not provided | Benign (Sep 10, 2021) | criteria provided, multiple submitters, no conflicts | VCV001273651 |
| - GRCh37:
- Chr6:50786607
- GRCh38:
- Chr6:50818894
| TFAP2B | M1I | Craniosynostosis syndrome | Likely pathogenic (Jul 23, 2019) | no assertion criteria provided | VCV001344682 |
| - GRCh37:
- Chr6:50786652
- GRCh38:
- Chr6:50818939
| TFAP2B | | not provided | Likely benign (May 15, 2018) | criteria provided, single submitter | VCV000357272 |
| - GRCh37:
- Chr6:50791110
- GRCh38:
- Chr6:50823397
| TFAP2B | | not provided | Likely benign (May 15, 2018) | criteria provided, single submitter | VCV000748066 |
| - GRCh37:
- Chr6:50791116
- GRCh38:
- Chr6:50823403
| TFAP2B | | not provided | Likely benign (Mar 30, 2018) | criteria provided, single submitter | VCV000746541 |
| - GRCh37:
- Chr6:50791130
- GRCh38:
- Chr6:50823417
| TFAP2B | D31G | not provided | Uncertain significance (Dec 11, 2021) | criteria provided, single submitter | VCV001360116 |
| - GRCh37:
- Chr6:50791199
- GRCh38:
- Chr6:50823486
| TFAP2B | A54G | not provided | Uncertain significance (Nov 6, 2021) | criteria provided, single submitter | VCV001418292 |
| - GRCh37:
- Chr6:50791217
- GRCh38:
- Chr6:50823504
| TFAP2B | T60N | not provided | Uncertain significance (Feb 12, 2020) | criteria provided, single submitter | VCV001312414 |
| - GRCh37:
- Chr6:50791237
- GRCh38:
- Chr6:50823524
| TFAP2B | P67S | not provided | Uncertain significance (Jan 26, 2021) | criteria provided, single submitter | VCV001304203 |
| - GRCh37:
- Chr6:50791256
- GRCh38:
- Chr6:50823543
| TFAP2B | P73R | Char syndrome | Pathogenic (Jan 2, 2013) | no assertion criteria provided | VCV000008044 |
| - GRCh37:
- Chr6:50791290
- GRCh38:
- Chr6:50823577
| TFAP2B | | not provided | Benign (Oct 4, 2021) | criteria provided, single submitter | VCV000357273 |
| - GRCh37:
- Chr6:50791310-50791311
- GRCh38:
- Chr6:50823597-50823598
| TFAP2B | Y93fs | not provided | Pathogenic (Apr 1, 2021) | criteria provided, single submitter | VCV001176512 |
| - GRCh37:
- Chr6:50791472-50791475
- GRCh38:
- Chr6:50823759-50823762
| TFAP2B | P147fs | Patent ductus arteriosus 2 | Pathogenic (Oct 17, 2016) | no assertion criteria provided | VCV000243019 |
| - GRCh37:
- Chr6:50791482
- GRCh38:
- Chr6:50823769
| TFAP2B | D148E | Char syndrome | Benign (Jan 2, 2013) | no assertion criteria provided | VCV000021358 |
| - GRCh37:
- Chr6:50791560
- GRCh38:
- Chr6:50823847
| TFAP2B | | not provided | Likely benign (Aug 16, 2018) | criteria provided, single submitter | VCV000357276 |
| - GRCh37:
- Chr6:50791578
- GRCh38:
- Chr6:50823865
| TFAP2B | | not provided | Uncertain significance (Feb 10, 2020) | criteria provided, single submitter | VCV001314941 |
| - GRCh37:
- Chr6:50791584-50791585
- GRCh38:
- Chr6:50823871-50823872
| TFAP2B | | not provided, Char syndrome | Conflicting interpretations of pathogenicity (Oct 20, 2021) | criteria provided, conflicting interpretations | VCV000357277 |
| - GRCh37:
- Chr6:50791585-50791592
- GRCh38:
- Chr6:50823872-50823879
| TFAP2B | | not provided | Benign (Dec 10, 2021) | criteria provided, single submitter | VCV001608032 |
| - GRCh37:
- Chr6:50791585-50791588
- GRCh38:
- Chr6:50823872-50823875
| TFAP2B | | Char syndrome, not specified, not provided
| Benign (Nov 27, 2021) | criteria provided, multiple submitters, no conflicts | VCV000258985 |
| - GRCh37:
- Chr6:50791588
- GRCh38:
- Chr6:50823875
| TFAP2B | | not specified | Benign | criteria provided, single submitter | VCV000258984 |
| - GRCh37:
- Chr6:50791592
- GRCh38:
- Chr6:50823879
| TFAP2B | | not provided | Benign (Dec 13, 2021) | criteria provided, multiple submitters, no conflicts | VCV001269905 |
| - GRCh37:
- Chr6:50791640
- GRCh38:
- Chr6:50823927
| TFAP2B | | not provided | Benign (May 15, 2021) | criteria provided, single submitter | VCV001235099 |
| - GRCh37:
- Chr6:50796329-50796332
- GRCh38:
- Chr6:50828616-50828619
| TFAP2B | | not provided | Uncertain significance (May 23, 2018) | criteria provided, single submitter | VCV000545952 |
| - GRCh37:
- Chr6:50796330
- GRCh38:
- Chr6:50828617
| TFAP2B | | Patent ductus arteriosus 2 | Pathogenic (Oct 17, 2016) | no assertion criteria provided | VCV000243018 |
| - GRCh37:
- Chr6:50796394
- GRCh38:
- Chr6:50828681
| TFAP2B | | Craniosynostosis syndrome | Likely pathogenic (Jul 23, 2019) | no assertion criteria provided | VCV001344683 |
| - GRCh37:
- Chr6:50796397
- GRCh38:
- Chr6:50828684
| TFAP2B | | Patent ductus arteriosus 2, Char syndrome | Pathogenic (Jan 2, 2013) | no assertion criteria provided | VCV000021359 |
| - GRCh37:
- Chr6:50796634
- GRCh38:
- Chr6:50828921
| TFAP2B | | not provided | Benign (Nov 12, 2018) | criteria provided, single submitter | VCV001244657 |
| - GRCh37:
- Chr6:50803785
- GRCh38:
- Chr6:50836072
| TFAP2B | P205S | not provided | Uncertain significance (Oct 30, 2020) | criteria provided, single submitter | VCV001303583 |
| - GRCh37:
- Chr6:50803821
- GRCh38:
- Chr6:50836108
| TFAP2B | G217fs | Char syndrome | Pathogenic (Nov 14, 2017) | criteria provided, single submitter | VCV000599040 |
| - GRCh37:
- Chr6:50803863
- GRCh38:
- Chr6:50836150
| TFAP2B | C231R | not provided | Uncertain significance (Jul 26, 2019) | criteria provided, single submitter | VCV001307411 |
| - GRCh37:
- Chr6:50803878
- GRCh38:
- Chr6:50836165
| TFAP2B | R236S | Char syndrome | Pathogenic (Jan 2, 2013) | no assertion criteria provided | VCV000008042 |
| - GRCh37:
- Chr6:50803878
- GRCh38:
- Chr6:50836165
| TFAP2B | R236C | Char syndrome | Pathogenic (Jan 2, 2013) | no assertion criteria provided | VCV000008041 |
| - GRCh37:
- Chr6:50803879
- GRCh38:
- Chr6:50836166
| TFAP2B | R236H | Char syndrome | Likely pathogenic (Oct 22, 2021) | no assertion criteria provided | VCV001326927 |
| - GRCh37:
- Chr6:50803892
- GRCh38:
- Chr6:50836179
| TFAP2B | | not provided | Likely benign (Apr 26, 2021) | criteria provided, single submitter | VCV001549642 |
| - GRCh37:
- Chr6:50803944
- GRCh38:
- Chr6:50836231
| TFAP2B | S258A | Char syndrome | Benign (Jan 2, 2013) | no assertion criteria provided | VCV000021360 |
| - GRCh37:
- Chr6:50805687
- GRCh38:
- Chr6:50837974
| TFAP2B | | Char syndrome | Pathogenic (Jan 2, 2013) | no assertion criteria provided | VCV000021361 |
| - GRCh37:
- Chr6:50805690
- GRCh38:
- Chr6:50837977
| TFAP2B | A275D | Char syndrome | Pathogenic (Nov 20, 2019) | criteria provided, single submitter | VCV000008039 |
| - GRCh37:
- Chr6:50805693
- GRCh38:
- Chr6:50837980
| TFAP2B | K276R | Craniosynostosis syndrome | Likely pathogenic (Jul 23, 2019) | no assertion criteria provided | VCV001344684 |
| - GRCh37:
- Chr6:50805696
- GRCh38:
- Chr6:50837983
| TFAP2B | S277W | Char syndrome, Upslanted palpebral fissure, Hypertelorism, Bifid nasal tip, Opacification of the corneal stroma, Clinodactyly of the 5th finger
| Uncertain significance (Jan 1, 2016) | criteria provided, single submitter | VCV000374174 |
| - GRCh37:
- Chr6:50805720
- GRCh38:
- Chr6:50838007
| TFAP2B | R285Q | Char syndrome | Pathogenic (Sep 8, 2017) | criteria provided, single submitter | VCV000008043 |
| - GRCh37:
- Chr6:50805764
- GRCh38:
- Chr6:50838051
| TFAP2B | R300C | Char syndrome | Pathogenic (Jan 2, 2013) | no assertion criteria provided | VCV000008040 |
| - GRCh37:
- Chr6:50805783
- GRCh38:
- Chr6:50838070
| TFAP2B | T306M | Char syndrome | Likely pathogenic (Dec 19, 2018) | no assertion criteria provided | VCV000599234 |
| - GRCh37:
- Chr6:50805942
- GRCh38:
- Chr6:50838229
| TFAP2B | | not provided | Benign (Nov 12, 2018) | criteria provided, single submitter | VCV001274986 |
| - GRCh37:
- Chr6:50807899
- GRCh38:
- Chr6:50840186
| TFAP2B | G324A | not provided | Uncertain significance (Mar 30, 2021) | criteria provided, single submitter | VCV001305755 |
| - GRCh37:
- Chr6:50807925
- GRCh38:
- Chr6:50840212
| TFAP2B | A333S | not provided | Likely benign (Oct 11, 2021) | criteria provided, single submitter | VCV001648705 |
| - GRCh37:
- Chr6:50807933
- GRCh38:
- Chr6:50840220
| TFAP2B | | not provided | Likely benign (Jul 16, 2018) | criteria provided, single submitter | VCV000724425 |
| - GRCh37:
- Chr6:50807934
- GRCh38:
- Chr6:50840221
| TFAP2B | V336I | not provided | Benign (Jan 17, 2020) | criteria provided, single submitter | VCV000357281 |
| - GRCh37:
- Chr6:50810497
- GRCh38:
- Chr6:50842784
| TFAP2B | | not provided | Benign (Nov 12, 2018) | criteria provided, single submitter | VCV001221895 |
| - GRCh37:
- Chr6:50810826
- GRCh38:
- Chr6:50843113
| TFAP2B | | not provided | Benign (Jun 18, 2018) | criteria provided, single submitter | VCV000755778 |
| - GRCh37:
- Chr6:50810827
- GRCh38:
- Chr6:50843114
| TFAP2B | D369H | Char syndrome | Uncertain significance (Feb 13, 2019) | criteria provided, single submitter | VCV001028094 |
| - GRCh37:
- Chr6:50810838
- GRCh38:
- Chr6:50843125
| TFAP2B | | not provided | Likely benign (Nov 14, 2017) | criteria provided, single submitter | VCV000725464 |
| - GRCh37:
- Chr6:50810866
- GRCh38:
- Chr6:50843153
| TFAP2B | R382* | Craniosynostosis syndrome | Likely pathogenic (Jul 23, 2019) | no assertion criteria provided | VCV001344685 |
| - GRCh37:
- Chr6:50810881
- GRCh38:
- Chr6:50843168
| TFAP2B | | not provided | Benign (Dec 31, 2019) | criteria provided, single submitter | VCV000357283 |
| - GRCh37:
- Chr6:50810915
- GRCh38:
- Chr6:50843202
| TFAP2B | F398S | not provided | Uncertain significance (Aug 28, 2021) | criteria provided, single submitter | VCV001464539 |
| - GRCh37:
- Chr6:50810967
- GRCh38:
- Chr6:50843254
| TFAP2B | | not provided | Likely benign (Mar 24, 2021) | criteria provided, single submitter | VCV001666133 |
| - GRCh37:
- Chr6:50811026
- GRCh38:
- Chr6:50843313
| TFAP2B | N435T | not provided | Likely benign (Sep 15, 2021) | criteria provided, single submitter | VCV000357286 |
| - GRCh37:
- Chr6:50811115
- GRCh38:
- Chr6:50843402
| TFAP2B | | not specified, not provided | Benign (May 5, 2021) | criteria provided, multiple submitters, no conflicts | VCV000258983 |
| - GRCh37:
- Chr6:50811120-50811122
- GRCh38:
- Chr6:50843407-50843409
| TFAP2B | | Char syndrome | Likely benign (Jun 14, 2016) | criteria provided, single submitter | VCV000357287 |
| - GRCh37:
- Chr6:50811238
- GRCh38:
- Chr6:50843525
| TFAP2B | | not provided | Benign (May 19, 2021) | criteria provided, single submitter | VCV001285676 |
| - GRCh37:
- Chr6:50811238-50811239
- GRCh38:
- Chr6:50843525-50843526
| TFAP2B | | Char syndrome | Uncertain significance (Jun 14, 2016) | criteria provided, single submitter | VCV000357289 |
| - GRCh37:
- Chr6:50811241
- GRCh38:
- Chr6:50843528
| TFAP2B | | not provided | Benign (May 15, 2021) | criteria provided, single submitter | VCV001265684 |
| - GRCh37:
- Chr6:50811283
- GRCh38:
- Chr6:50843570
| TFAP2B | | not provided | Benign (May 19, 2021) | criteria provided, single submitter | VCV001284149 |
| - GRCh37:
- Chr6:50812004-50812005
- GRCh38:
- Chr6:50844291-50844292
| TFAP2B | | Char syndrome | Uncertain significance (Jun 14, 2016) | criteria provided, single submitter | VCV000357299 |
| - GRCh37:
- Chr6:50812004
- GRCh38:
- Chr6:50844291
| TFAP2B | | not provided, Char syndrome | Conflicting interpretations of pathogenicity (May 17, 2021) | criteria provided, conflicting interpretations | VCV000357298 |
| - GRCh37:
- Chr6:50812015
- GRCh38:
- Chr6:50844302
| TFAP2B | | not provided | Benign (May 15, 2021) | criteria provided, single submitter | VCV001259965 |
| - GRCh37:
- Chr6:50812015-50812016
- GRCh38:
- Chr6:50844302-50844303
| TFAP2B | | not provided, Char syndrome | Conflicting interpretations of pathogenicity (May 15, 2021) | criteria provided, conflicting interpretations | VCV000357302 |
| - GRCh37:
- Chr6:50812015-50812016
- GRCh38:
- Chr6:50844302-50844303
| TFAP2B | | Char syndrome | Uncertain significance (Jun 14, 2016) | criteria provided, single submitter | VCV000357301 |
| - GRCh37:
- Chr6:50812015-50812019
- GRCh38:
- Chr6:50844302-50844306
| TFAP2B | | Char syndrome | Uncertain significance (Jun 14, 2016) | criteria provided, single submitter | VCV000357300 |
| - GRCh37:
- Chr6:50812016-50812019
- GRCh38:
- Chr6:50844303-50844306
| TFAP2B | | Char syndrome | Uncertain significance (Jun 14, 2016) | criteria provided, single submitter | VCV000357304 |
| - GRCh37:
- Chr6:50812016-50812017
- GRCh38:
- Chr6:50844303-50844304
| TFAP2B | | not provided, Char syndrome | Conflicting interpretations of pathogenicity (May 16, 2021) | criteria provided, conflicting interpretations | VCV000357303 |
| - GRCh37:
- Chr6:50812017
- GRCh38:
- Chr6:50844304
| TFAP2B | | not provided | Benign (May 15, 2021) | criteria provided, single submitter | VCV001225055 |
| - GRCh37:
- Chr6:50812017-50812021
- GRCh38:
- Chr6:50844304-50844308
| TFAP2B | | Char syndrome | Uncertain significance (Jun 14, 2016) | criteria provided, single submitter | VCV000357305 |
| - GRCh37:
- Chr6:50812530
- GRCh38:
- Chr6:50844817
| TFAP2B | | Char syndrome | Uncertain significance (Jun 14, 2016) | criteria provided, single submitter | VCV000357313 |
| - GRCh37:
- Chr6:50812748
- GRCh38:
- Chr6:50845035
| TFAP2B | | Char syndrome | Uncertain significance (Jun 14, 2016) | criteria provided, single submitter | VCV000357314 |
| - GRCh37:
- Chr6:50813038-50813039
- GRCh38:
- Chr6:50845325-50845326
| TFAP2B | | Char syndrome | Likely benign (Jun 14, 2016) | criteria provided, single submitter | VCV000357322 |
| - GRCh37:
- Chr6:50815317-50815318
- GRCh38:
- Chr6:50847604-50847605
| TFAP2B | | Char syndrome | Likely benign (Jun 14, 2016) | criteria provided, single submitter | VCV000357354 |
| - GRCh37:
- Chr6:50815333
- GRCh38:
- Chr6:50847620
| TFAP2B | | Char syndrome | Benign (Jun 14, 2016) | criteria provided, single submitter | VCV000369566 |
| - GRCh37:
- Chr6:43636308-64947206
| AARS2, ADGRF1, ADGRF2, ADGRF4, ADGRF5, ANKRD66, BAG2, BEND6, BMP5, C6orf141, C6orf223, CAPN11, CD2AP, CDC5L, CENPQ, CILK1, CLIC5, COL21A1, CRISP1, CRISP2, CRISP3, CYP39A1, DEFB110, DEFB112, DEFB113, DEFB114, EFHC1, ELOVL5, ENPP4, ENPP5, EYS, FAM83B, FBXO9, GCLC, GCM1, GFRAL, GLYATL3, GSTA1, GSTA2, GSTA3, GSTA4, GSTA5, HCRTR2, HMGCLL1, HSP90AB1, IL17A, IL17F, KHDRBS2, KIAA1586, KLHL31, LGSN, LOC101926915, LOC101927189, LRRC1, MCM3, MEP1A, MIR133B, MIR206, MLIP, MMUT, MRPL14, MRPS18A, NFKBIE, OPN5, PAQR8, PGK2, PHF3, PKHD1, PLA2G7, PTCHD4, PTP4A1, RAB23, RCAN2, RHAG, RN7SK, RSPH9, RUNX2, SLC25A27, SLC29A1, SLC35B2, SPATS1, SUPT3H, TCTE1, TDRD6, TFAP2B, TFAP2D, TINAG, TMEM14A, TMEM151B, TMEM63B, TNFRSF21, TRAM2, VEGFA, ZNF451 | | not provided | Likely pathogenic | no assertion criteria provided | VCV001676306 |
| - GRCh37:
- Chr6:43636308-50947320
| ADGRF4, ADGRF5, AARS2, ADGRF1, ADGRF2, ANKRD66, C6orf141, C6orf223, CAPN11, CD2AP, CDC5L, CENPQ, CLIC5, CRISP1, CRISP2, CRISP3, CYP39A1, DEFB110, DEFB112, DEFB113, DEFB114, ENPP4, ENPP5, GLYATL3, HSP90AB1, LOC101926915, MEP1A, MMUT, MRPL14, MRPS18A, NFKBIE, OPN5, PGK2, PLA2G7, PTCHD4, RCAN2, RHAG, RSPH9, RUNX2, SLC25A27, SLC29A1, SLC35B2, SPATS1, SUPT3H, TCTE1, TDRD6, TFAP2B, TFAP2D, TMEM151B, TMEM63B, TNFRSF21, VEGFA | | not specified | Pathogenic (Mar 1, 2022) | criteria provided, single submitter | VCV001527236 |
| - GRCh37:
- Chr6:50011288-50812180
| DEFB112, TFAP2B, TFAP2D | | not provided | Pathogenic (Oct 6, 2021) | criteria provided, single submitter | VCV001455701 |
| - GRCh37:
- Chr6:48626041-55575545
| GSTA3, MCM3, LOC101927189, DEFB112, GSTA2, TRAM2, MMUT, CRISP2, CRISP3, HCRTR2, MLIP, EFHC1, FBXO9, HMGCLL1, KLHL31, CILK1, PGK2, GSTA1, TFAP2D, DEFB110, TINAG, C6orf141, TFAP2B, GLYATL3, DEFB114, RHAG, GFRAL, CRISP1, IL17F, PKHD1, RN7SK, GSTA5, ELOVL5, DEFB113, MIR133B, GSTA4, GCM1, CENPQ, FAM83B, MIR206, PAQR8, IL17A, TMEM14A, GCLC, LRRC1 | | See cases | Likely pathogenic (Dec 12, 2019) | no assertion criteria provided | VCV000983177 |
| - GRCh37:
- Chr6:29455465-81447367
| ELOVL5, ENPP4, PTCHD4, PTCRA, RAB23, RAB44, RPL7L1, RCAN2, RN7SK, PTP4A1, PXT1, ENPP5, ERVH-3, ETV7, EYS, FAM135A, FAM83B, FANCE, FBXO9, FGD2, FILIP1, FKBP5, GLP1R, GSTA5, GLYATL3, PTK7, SDHAF4, SENP6, SCUBE3, AGPAT1, AIF1, ANKRD66, ANKS1A, APOBEC2, APOM, ARMC12, ATAT1, ATF6B, ATP6V1G2, B3GALT4, B3GAT2, BAG2, BAG6, BAK1, BCKDHB, BEND6, BICRAL, BMP5, BNIP5, BYSL, BRD2, BRPF3, BTBD9, BTNL2, C2, C4A, C4B, C6orf132, C6orf136, C6orf141, C6orf15, C6orf223, C6orf226, C6orf47, C6orf89, CAPN11, CCDC167, CCHCR1, CCND3, CD109, CD2AP, CDC5L, CDKN1A, CDSN, CENPQ, CFB, CGAS, CILK1, CLIC1, CLIC5, CLPS, CLPSL1, CLPSL2, CMTR1, CNPY3, COL11A2, COL12A1, COL19A1, COL21A1, COL9A1, COX7A2, CPNE5, CRIP3, CRISP1, CRISP2, CRISP3, CSNK2B, CUL7, CUL9, CUTA, CYP21A2, CYP39A1, DAAM2, DAXX, DDAH2, DDR1, DDX39B, DDX43, DEF6, DEFB110, DEFB112, DEFB113, DEFB114, DHX16, DLK2, DNAH8, DNPH1, DPPA5, DXO, EEF1A1, EFHC1, EGFL8, EHMT2, ELOVL4, FKBPL, FLOT1, FOXP4, FRS3, GABBR1, GCLC, GCM1, GFRAL, GLO1, GNL1, GNMT, GPANK1, GSTA4, GPSM3, GRM4, GSTA1, GSTA2, GSTA3, GTF2H4, GTPBP2, GUCA1A, GUCA1B, HCG17, HCG22, HCG26, HCP5, HCRTR2, HLA-A, HLA-B, HLA-C, HLA-DMA, HLA-DMB, HLA-DOA, HLA-DOB, HLA-DPA1, HLA-DPB1, HLA-DQA1, HLA-DQA2, HLA-DQB1, HLA-DQB2, HLA-DRA, HLA-DRB1, HLA-DRB5, HLA-E, HLA-F, ILRUN, HLA-G, HMGA1, HMGCLL1, HMGN3, IMPG1, HSD17B8, HSP90AB1, HSPA1A, HSPA1B, HSPA1L, HTR1B, IER3, IL17A, IL17F, IP6K3, IRAK1BP1, ITPR3, KCNK16, KCNK17, KCNK5, KCNQ5, KCTD20, KHDC1, KHDC1L, KHDC3L, KHDRBS2, KIAA1586, KIF6, KIFC1, KLC4, KLHDC3, KLHL31, LCA5, LEMD2, LGSN, LHFPL5, LINC00951, LINC01621, LMBRD1, LOC101926915, LOC101927189, LRFN2, LRRC1, LRRC73, LSM2, LST1, LTA, LTB, LY6G5B, LY6G5C, LY6G6C, LY6G6D, LY6G6F, MAD2L1BP, MAPK13, MAPK14, MAS1L, MCCD1, MCM3, MDC1, MDFI, MDGA1, MEA1, MED20, MEP1A, MICA, MICB, MIR133B, MIR206, MIR219A1, MIR30A, MIR877, MLIP, MLN, MMUT, MOCS1, MOG, NCR2, MPIG6B, MRPL14, MRPL2, MRPS10, MRPS18A, MRPS18B, MSH5, MTCH1, MTO1, MUC21, MUC22, MUCL3, MYO6, NCR3, NELFE, NEU1, NFKBIE, NFKBIL1, NFYA, NOTCH4, NRM, NUDT3, OARD1, OGFRL1, OOEP, OPN5, OR2H2, PACSIN1, PAQR8, PBX2, PEX6, PFDN6, PGC, PGK2, PHF1, PHF3, PHIP, PI16, PIM1, PKHD1, PLA2G7, PNPLA1, POLH, POLR1C, POLR1H, POU5F1, PPARD, PPIL1, PPP1R10, PPP1R11, PPP1R18, PPP2R5D, PPT2, PRICKLE4, PRPH2, PRR3, PRRC2A, PRRT1, PSMB8, PSMB9, PSORS1C1, PSORS1C2, RGL2, RHAG, RIMS1, RING1, RNF39, RNF5, RNF8, RPL10A, RPP21, RPS10, RPS18, RRP36, RSPH9, RUNX2, RXRB, SAPCD1, SAYSD1, SFTA2, SH3BGRL2, SKIV2L, SLC17A5, SLC22A7, SLC25A27, SLC26A8, SLC29A1, SLC35B2, SLC39A7, SLC44A4, SMAP1, SMIM29, SNHG32, SNRPC, SPATS1, SPDEF, SRF, SRPK1, SRSF3, STK19, STK38, SUPT3H, SYNGAP1, TAF11, TAF8, TAP1, TAP2, TAPBP, TBC1D22B, TBCC, TCF19, TCP11, TCTE1, TDRD6, TEAD3, TFAP2B, TFAP2D, TFEB, TINAG, TJAP1, TMEM14A, TMEM151B, TMEM217, TMEM30A, TMEM63B, TNF, TNFRSF21, TNXB, TOMM6, TRAM2, TREM1, TREM2, TREML1, TREML2, TREML4, TRERF1, TRIM10, TRIM15, TSPO2, TRIM26, TRIM31, TRIM39, TRIM39-RPP21, TRIM40, TSBP1, TTBK1, TTK, TUBB, TULP1, USP49, UBD, UBR2, UHRF1BP1, UNC5CL, UQCC2, VARS1, VARS2, VEGFA, YIPF3, VPS52, VWA7, WDR46, XPO5, ZBTB12, ZBTB22, ZBTB9, ZFAND3, ZFP57, ZNF318, ZNF451, ZNF76, AARS2, ABCC10, ABCF1, ADGRF5, ABHD16A, ADGRB3, ADGRF1, ADGRF2, ADGRF4, AGER | | not provided | Pathogenic (Nov 1, 2018) | criteria provided, single submitter | VCV000625706 |
| - GRCh37:
- Chr6:165632-170919470
| CLIC1, IRF4, CALHM4, TAAR1, MTRES1, PHIP, CLPS, NR2E1, PACRG, KIAA0319, HLA-DQA1, KHDRBS2, TRAPPC3L, QKI, EHMT2, GLP1R, BRD2, HCRTR2, GPR31, PERP, BTN3A3, HTR1B, VARS2, PCMT1, UBD, SOX4, DPPA5, MRPL14, GFOD1, ZSCAN16, RIPPLY2, PPARD, HS3ST5, GFRAL, SH3BGRL2, MYCT1, ZNF391, ARHGAP18, H2BC11, PLN, RFPL4B, GCM2, DACT2, POM121L2, LTB, FBXL4, H4C13, DOP1A, TAB2, BYSL, MICAL1, TFEB, TAAR6, MAP3K5, H2AC15, MRPL18, ERVFRD-1, CPNE5, RNF182, SYTL3, ADTRP, H2AC7, NCOA7, GRM4, H2AC13, NCR3, BAG6, TBC1D7, IPCEF1, ZFP57, BTN3A1, GPX6, AKAP12, EPM2A, RPP40, AIG1, MDGA1, C6orf47, GMPR, HMGN4, H2AC16, EZR, SNAP91, TBX18, PLA2G7, ELOVL4, TULP1, RPS10, OR2B2, HEBP2, AGER, PKIB, MAS1L, PTK7, GABRR1, UNC5CL, SNRNP48, SLC35B2, KLC4, VWA7, HCG26, CNR1, GSTA4, ALDH5A1, NQO2, CDKAL1, SERAC1, NCR2, EYS, CTAGE9, OPN5, MAK, ZBTB12, PFDN6, GSTA5, SCAF8, COQ3, IL20RA, RWDD1, TREML4, CCR6, DAAM2, WASF1, ZNF292, PHF1, OFCC1, H1-3, TNXB, H3C7, UNC93A, GSTA1, PPIL4, PSMG4, LAMA2, TNFAIP3, MYLK4, ALDH8A1, ADGB, SLC17A4, LRP11, FBXO5, TPBG, H3C10, CCND3, SEC63, AKIRIN2, PXT1, RNF217-AS1, GOPC, LOC729681, PRPF4B, LRFN2, SMIM8, PDCD2, TMEM14C, RPL10A, FKBP5, TCTE1, H2BC13, MMS22L, TRR-TCG4-1, CCDC28A, CDK19, OPRM1, TIAM2, RTN4IP1, BLOC1S5, COL12A1, H3C2, KIF13A, IMPG1, OR11A1, PNISR, CRISP3, C4A, TMEM217, FGD2, ARMC12, ROS1, KCTD20, METTL24, PSORS1C1, LTV1, ORC3, PPP1R14C, HYMAI, CENPW, SPDEF, EDN1, NFYA, TRX-CAT1-2, PTP4A1, LST1, H2BC1, TMEM170B, RGL2, CRIP3, H2BC14, MLN, BMP5, ENPP1, SPATS1, DLK2, FRS3, KIF6, FOXO3, SLC22A16, GMNN, ATF6B, TDP2, KHDC1L, OR2H1, ZSCAN31, FLOT1, F13A1, ASF1A, PDE7B, WDR46, RIMS1, COL21A1, POU3F2, NUS1, HCG22, TMEM244, BPHL, VNN1, MAPK14, REV3L, RMND1, UQCC2, TFAP2D, ELOVL5, H1-5, TCP11, CCDC170, TXLNB, BEND3, VARS1, COX7A2, MRAP2, GABRR2, CYP39A1, UST, IL17A, PHACTR1, PGBD1, HLA-DPB1, CFB, RREB1, CENPQ, H4C4, CCNC, LATS1, GTF2H4, ADGRF2, RRP36, BMP6, TAP1, EPB41L2, HLA-B, HLA-DQB2, TCP1, TFB1M, DEF6, BCLAF1, LHFPL5, OR2J2, TRIM27, PXDC1, MAD2L1BP, DSE, RAET1E, OR2H2, CRISP2, KCNK17, SMLR1, ZBTB2, GCM1, LCA5, ATG5, FNDC1, LY6G5C, TMEM242, MBOAT1, TSPYL4, TRMT11, RING1, OARD1, HLA-DMB, MRS2, TRIM38, TUBB2B, TAF11, TCF21, BAK1, NFKBIL1, BRPF3, LINC00951, ABHD16A, SLC29A1, RSPH9, SLC22A3, PRPH2, IGF2R, HLA-DRB1, SLC17A2, CGA, CUL7, PM20D2, H2AC6, KLHDC3, SMPDL3A, LY6G6D, LINC02487, SMOC2, SSR1, TSPYL1, TNFRSF21, REPS1, SIRT5, RPS6KA2, SESN1, EEF1E1, PTCHD4, NEU1, SYNE1, EPHA7, FAM184A, POLR1H, RCAN2, PHACTR2, SLC35D3, FUT9, GTF3C6, ILRUN, SLC22A7, MTHFD1L, PIM1, MOCS1, POU5F1, FHL5, PPP1R11, GNL1, HLA-DQB1, PSMB9, GTF2H5, H2BC15, H4C2, SASH1, OR2W1, GPANK1, TREML1, ZNF184, RXRB, ME1, PTPRK, RNF144B, H2BC12, PREP, L3MBTL3, DDR1, GABBR1, TFAP2A, SENP6, TPD52L1, HULC, PPIL1, RNF39, CDC40, H4C11, PPP1R10, FAM229B, BACH2, ATXN1, SMIM29, MIR30A, TAAR2, RNGTT, SNORD50B, DEFB114, PHF3, TBCC, THEMIS, FILIP1, H1-2, PRR3, H4C7, ECT2L, KLHL31, HLA-C, RNF8, MSH5, CASP8AP2, BTN2A2, MEA1, MARCKS, LY6G5B, LOC101926915, POLR1C, KHDC1, DDX39B, SNHG32, HSPA1A, AARS2, ZUP1, ATP6V1G2, PACSIN1, DNAH8, GRIK2, DXO, TENT5A, TRS-AGA2-3, HSD17B8, CALHM5, SMIM13, HLA-DMA, SERPINB6, B3GAT2, KU-MEL-3, DCDC2, H3C12, TREM2, LMBRD1, PNRC1, GSTA2, PRSS35, ZSCAN9, MPC1, MICB, CLIC5, NDUFAF4, EXOC2, HTR1E, MLIP, SLC25A27, ZBTB22, TCF19, GPR63, MMUT, SLC16A10, STX11, HMGA1, IP6K3, FOXP4, KLHL32, NUDT3, HLA-DQA2, MTO1, HSPA1L, GSTA3, OLIG3, SLC17A3, TAPBP, ERMARD, H2BC7, MDN1, KCNK16, RAB32, RPL7L1, PLEKHG1, OOEP, TUBB, KIF25, UBE3D, FBXO30, TRAF3IP2-AS1, SUPT3H, ZBTB9, ANKS1A, PRKN, PHF10, DUSP22, SYCP2L, RPS12, HLA-DRB5, C2, HLA-DOA, TBP, FRK, GCLC, UFL1, C6orf141, FOXQ1, ATAT1, DEFB112, SLC35B3, ECHDC1, RANBP9, H2BC4, KIAA0408, VEGFA, HLA-E, SAMD5, RNF5, CLDN20, MIR133B, SDHAF4, PAK1IP1, KIFC1, FABP7, CEP85L, CARMIL1, POLH, E2F3, H3C4, LINC01621, PGC, CDC5L, SFTA2, CCHCR1, ZSCAN23, GNMT, LIN28B, ARFGEF3, FOXF2, NKAIN2, CLPSL2, MAP7, PPT2, GPSM3, C6orf15, FYN, PEX3, RPS18, NHSL1, HMGCLL1, WRNIP1, TEAD3, TAGAP, HSP90AB1, H2AC14, HEY2, RUNX2, CGAS, SUMO4, PSMB8, DDO, PLG, NELFE, NRM, EFHC1, PGM3, SOBP, KAAG1, SRSF3, C6orf89, PGK2, PDE10A, RIPK1, TRDN, TMEM14A, GCNT2, MRPS18B, RARS2, UHRF1BP1, ARG1, BAG2, SAYSD1, ZBED9, H2BC8, H3C6, CLVS2, AIF1, WTAP, CAP2, MIR877, PAQR8, RAET1G, ASCC3, HCP5, MED20, KATNA1, ZFAND3, GPRC6A, SYNCRIP, BTNL2, SKIV2L, ZNF318, SRF, SRSF12, UBE2J1, HDAC2, C6orf226, RNASET2, PSORS1C2, C6orf52, GMDS, ETV7, AIRN, CCN2, H4C9, OR14J1, VNN2, MAP3K7, IFNGR1, SNORD50A, HACE1, OR12D2, PI16, TRIM39-RPP21, DAXX, H1-4, CDYL, ZSCAN26, PNLDC1, MAS1, SPACA1, MAN1A1, IL17F, TRIM26, PNPLA1, HLA-F, OR12D3, C6orf118, ECI2, MCHR2, TPMT, NOL7, OR2B3, TAAR9, ANKRD6, BCKDHB, ADAT2, TMEM200A, STXBP5, MCUR1, PRR18, RWDD2A, NUP153, SCGN, UBR2, KIAA1586, VTA1, H3C8, PRL, BICRAL, LOC101927189, ZNF322, SERINC1, TBC1D32, TUBE1, H2AC11, CILK1, ZC3H12D, MYO6, H3C1, DEFB113, ABRACL, CEP57L1, COL10A1, RAB44, LINC02539, FAXC, COL19A1, FAM8A1, RNF146, GJA1, CALHM6, PEX6, H1-1, MRPS10, AGPAT1, MIR206, MFSD4B, ARID1B, NT5DC1, EEF1A1, PBOV1, H2BC17, SIM1, FAM120B, ULBP3, SMAP1, CCDC167, C6orf58, TFAP2B, C6orf201, USP45, HBS1L, ADGRF5, CD109, MAPK13, GJA10, ACOT13, SF3B5, HLA-A, MUC21, NEDD9, APOM, NRSN1, STX7, TMEM181, RSPH4A, TTLL2, TRAM2, STK19, RN7SK, SLC17A5, CEP43, SERPINB1, RPF2, HLA-DRA, TRIM39, H2BC5, ID4, SAPCD1, NMBR, BEND6, HECA, TMEM14B, ARMT1, KCNK5, AKAP7, SLC35F1, LSM2, TRS-TGA2-1, HSF2, H2BC9, SNRPC, RNF217, GRM1, PRRT1, CNKSR3, H2AC12, FOXC1, ABCF1, VPS52, MTCH1, COL9A1, H2AC8, LRRC73, PPP1R3G, BNIP5, HCG17, HDGFL1, SNHG5, TRAF3IP2, ENPP3, CAGE1, LGSN, VNN3, HLA-DOB, LY6G6C, H3C3, PRRC2A, TBXT, ULBP2, APOBEC2, FBXO9, TMEM151B, C6orf223, TRIM31, MCCD1, TTK, ACAT2, LTA, H3C11, H2AC1, MED23, FAM50B, NFKBIE, CUTA, GLO1, SLC44A4, MANEA, CUL9, PDSS2, BTN1A1, EGFL8, MDFI, TRIM15, SRPK1, SNX9, TULP4, ANKRD66, SLC18B1, KPNA5, CITED2, C6orf136, H4C5, PRDM1, MDC1, ABT1, SAMD3, LAMA4, ZKSCAN4, TAAR8, C6orf62, LY86, RBM24, DYNLT2, SLC22A23, OR2J3, MTFR2, PEX7, FARS2, RPP21, TSPO2, H4C8, C6orf132, SLC26A8, MEP1A, GLYATL3, USP49, MOG, ENPP5, ZC2HC1B, IBTK, HIVEP1, COL11A2, RRAGD, SCML4, DSP, H2BC6, OR5V1, H2BC3, DDX43, MUCL3, OR2B6, CNPY3, PKHD1, SLC22A1, IL22RA2, AMD1, ABCC10, PBX2, HMGN3, IYD, MYB, CCN6, SOGA3, DTNBP1, NOTCH4, DHX16, LYRM4, RIPOR2, GJB7, ERVH-3, TOMM6, TDRD6, HDDC2, NT5E, LRRC1, C6orf163, ADGRF4, CAPN11, H1-6, AGPAT4, HLA-G, GPR6, XPO5, FIG4, MUC22, SNX3, SLC35A1, RIOK1, DEK, RAET1L, SGK1, TBPL1, STMND1, TAP2, CD164, CD83, MRPS18A, FKBPL, SOD2, TSTD3, TRA-TGC7-1, TJAP1, ZNF76, MIR219A1, SLC22A2, ELOVL2, MPIG6B, MTRF1L, ADGRF1, DCBLD1, OR10C1, ZBTB24, SNX14, TRX-CAT2-1, AFDN, FAM83B, UTRN, QRSL1, CDSN, SFT2D1, TAAR5, LYRM2, PRDM13, LINC01600, NUP43, DDAH2, SMPD2, CRYBG1, TRIM10, GPX5, WDR27, SLC39A7, PPP2R5D, OSTM1, YIPF3, FUCA2, AHI1, CRISP1, ADGRB3, JARID2, DEFB110, HINT3, LPA, DLL1, DYNLT1, NRN1, ULBP1, FRMD1, CEP162, OR2A4, RAB23, CDKN1A, VGLL2, SYNGAP1, CMTR1, RFX6, BTBD9, ENPP4, BTN2A1, ZKSCAN8, NHLRC1, CD2AP, H4C3, MCM9, SCUBE3, H4C12, SERPINB9, ESR1, ARMC2, H2AC4, CSNK2B, CLPSL1, TSBP1, TMEM63B, GPLD1, H4C1, PLAGL1, FAM135A, TTBK1, SHPRH, PRSS16, RHAG, KHDC3L, GUCA1A, KDM1B, FAM162B, BVES, TAF8, TREML2, ZKSCAN3, PPP1R18, FANCE, H2AC17, AK9, LINC02901, MOXD1, STK38, TRIM40, RGS17, POPDC3, ADGRG6, TUBB2A, IRAK1BP1, AFG1L, CFAP206, LY6G6F, RSPO3, RSPH3, IER3, LEMD2, KCNQ5, GUCA1B, ITPR3, HLA-DPA1, GTPBP2, VIP, C4B, TMEM30A, TREM1, NOX3, TNF, OGFRL1, TRS-TGA4-1, SLC17A1, PSMB1, PPIL6, HUS1B, PRICKLE4, EYA4, C6orf120, FAM217A, TINAG, MCM3, B3GALT4, GINM1, ZDHHC14, ZSCAN12, THBS2, ZNF165, HSPA1B, TBC1D22B, H4C6, SDIM1, CYP21A2, MRPL2, MYLIP, PTCRA, MAP3K4, ZNF451, HFE, HIVEP2, BTN3A2, SYNE1-AS1, MICA, H2BC10, DNPH1, SYNJ2, SLC2A12, TRERF1, CYB5R4, NKAPL, ZNF311 | | not provided | Pathogenic (Oct 31, 2014) | no assertion criteria provided | VCV000608768 |
| - GRCh37:
- Chr6:108666-170980171
| H2BC10, MICB, HFE, ARMC2, CRISP2, VNN3, H2AC15, HTR1B, C6orf132, SLC2A12, TAAR2, CNR1, PAQR8, JARID2, PLA2G7, H1-3, PDE10A, SAPCD1, PPP1R14C, LOC101927189, SHPRH, BTN2A1, LAMA2, HLA-A, MAK, GMPR, GOPC, GNL1, TTK, MRS2, ZNF165, HCG22, TAF11, KHDC3L, FAM184A, RPL10A, TJAP1, TBX18, POU5F1, SCUBE3, GINM1, TNXB, SLC39A7, CYP39A1, PTPRK, AHI1, MTHFD1L, SFTA2, PRICKLE4, SNHG32, H3C7, FUT9, MTCH1, GABBR1, OPRM1, NQO2, ZC3H12D, KATNA1, ORC3, TPMT, GRM4, TSPYL4, ASF1A, SERINC1, TULP1, MDN1, TREM2, SRPK1, GTF2H5, GPR31, GUCA1A, DLL1, C6orf201, SMIM8, LTB, ABRACL, STMND1, STX7, TSBP1, SASH1, C4A, GABRR2, PXDC1, PRPH2, PDSS2, MSH5, TBPL1, PPT2, C6orf226, ZSCAN12, BEND6, SDIM1, MIR30A, TDRD6, HCG17, DYNLT2, DDX39B, POLR1H, TRIM26, TMEM181, NT5DC1, LSM2, BEND3, TINAG, TTBK1, MYCT1, CEP162, MOXD1, TRAF3IP2-AS1, CEP43, BMP5, ADAT2, SMOC2, RAET1G, DTNBP1, CEP57L1, L3MBTL3, PLN, ZSCAN9, RPF2, SIRT5, SLC29A1, STXBP5, OGFRL1, CAPN11, RMND1, TAP2, NRSN1, HTR1E, LY6G5B, LINC00951, MRPL18, YIPF3, BCLAF1, PPP1R18, RNF39, SNX14, EXOC2, HLA-B, ID4, RIPPLY2, H2AC12, RPS18, IPCEF1, DCBLD1, GMNN, AKIRIN2, SNAP91, H2AC16, STX11, TCP1, ZBTB24, H3C12, LIN28B, SOGA3, ZNF451, H2BC7, KHDC1, H3C4, FBXL4, SLC22A7, SMIM29, UBE3D, PLAGL1, WRNIP1, TREM1, RWDD1, ZC2HC1B, VTA1, EPB41L2, DDAH2, FAM50B, FYN, PHF3, H4C4, HUS1B, PRDM1, C2, SLC35A1, GABRR1, WDR27, H2BC14, CFAP206, TRIM39-RPP21, FUCA2, NEU1, H2AC1, STK38, NUDT3, COL9A1, ADGRF4, CRISP1, MYLK4, HULC, LAMA4, TBP, ELOVL4, PPIL1, TEAD3, MAS1L, EEF1A1, OR10C1, ATAT1, GSTA4, CPNE5, SLC22A23, TRIM10, H2AC13, SMAP1, ZNF322, KCNQ5, ACOT13, LHFPL5, SLC17A5, SERPINB1, TMEM151B, SERPINB6, GPLD1, SNRPC, APOM, OR2B3, TNFAIP3, ANKS1A, FAM8A1, TFEB, PACSIN1, HMGA1, C6orf223, NKAIN2, RIPK1, DSE, GTPBP2, SYNJ2, CYP21A2, FAXC, PHF1, VPS52, TRIM40, FNDC1, OR14J1, TMEM14C, H3C11, PEX7, EFHC1, PGM3, MAPK13, FOXO3, CLPSL2, ASCC3, MPC1, ME1, CYB5R4, GTF2H4, HLA-DOB, SCML4, WTAP, TAAR1, PTK7, BVES, H2BC12, COX7A2, TPD52L1, H1-6, OR5V1, H4C11, ABT1, QRSL1, LINC02901, DEFB110, STK19, TMEM200A, EEF1E1, PHACTR2, EHMT2, RPS10, SOD2, PRL, AGPAT1, HLA-DQA2, MMUT, CCDC170, SESN1, RNF144B, DNAH8, TDP2, SYNE1, RAET1E, CD2AP, GCM1, HLA-E, MCUR1, IMPG1, PBX2, FRK, GPX5, TAAR5, TNF, GCNT2, RSPO3, OR2W1, ADGRG6, MRPS18B, RN7SK, SMPDL3A, RRP36, ADGRF2, DEFB114, DEK, OR2J2, MRPS10, RNASET2, RPL7L1, FHL5, ZFAND3, H3C2, BRPF3, PSMB8, AFG1L, H2AC7, RNF5, SNX9, LRRC1, TSTD3, DOP1A, ADGB, GPANK1, IL17F, GPR63, MICAL1, GPR6, H1-5, CNPY3, TBC1D22B, UHRF1BP1, RNGTT, SLC17A1, DACT2, PDE7B, H2BC1, GFOD1, SOBP, TBCC, DDO, CALHM6, TRIM38, MEP1A, COL19A1, HBS1L, PGBD1, DAAM2, NUP43, NFKBIE, NRM, POM121L2, MUC21, MICA, PPIL4, RRAGD, PSMB1, COL12A1, XPO5, FAM135A, HLA-DPB1, MRPS18A, COQ3, C6orf58, DEFB113, PREP, BCKDHB, ENPP1, NMBR, BAG6, TRX-CAT1-2, KIFC1, ZSCAN31, LINC02539, SUMO4, ULBP3, EYS, GPX6, TMEM14A, FAM229B, ZBTB2, CUL7, TMEM244, HECA, CCNC, HCRTR2, ARG1, DYNLT1, MUC22, OR2H1, MYLIP, IL20RA, CENPW, ACAT2, UNC93A, CEP85L, MOCS1, CENPQ, H3C8, BLOC1S5, MRPL14, H3C3, LMBRD1, H2BC8, PNISR, SLC35B3, NRN1, DNPH1, ATP6V1G2, TUBE1, TMEM217, PSMB9, PNRC1, LGSN, NT5E, RANBP9, BICRAL, DHX16, NOL7, H2AC11, CFB, SYTL3, CDYL, LY6G6C, SYNGAP1, SAMD3, BYSL, HSF2, IL22RA2, CLDN20, RGL2, UBR2, NR2E1, H2BC6, LRP11, MUCL3, CAGE1, TMEM63B, SLC17A3, NUS1, NOTCH4, NELFE, GJA1, CCN2, ADGRB3, BTNL2, SMIM13, NHLRC1, IGF2R, HSD17B8, POU3F2, ZKSCAN4, GSTA5, PNPLA1, C6orf163, SSR1, NCR2, NEDD9, CCHCR1, PRDM13, H2BC17, SERAC1, REPS1, AIF1, TUBB2A, SF3B5, KIF13A, KCNK5, HMGN3, MLN, SLC22A2, TRS-TGA2-1, SYCP2L, TBC1D32, HLA-DRA, H4C3, PCMT1, PKIB, FOXC1, IER3, RAB44, MMS22L, UBD, TRERF1, SMLR1, LRFN2, PTP4A1, SYNE1-AS1, TREML1, COL10A1, ATG5, H2BC9, CNKSR3, DCDC2, TFB1M, TRAM2, SNRNP48, HACE1, NFYA, H1-2, CRISP3, ZFP57, PRRT1, ENPP5, NCOA7, POPDC3, UTRN, PSORS1C1, MDC1, TRMT11, MBOAT1, GLYATL3, HMGN4, H4C8, BACH2, UFL1, BTN1A1, PGK2, AGPAT4, ERVFRD-1, H4C9, BNIP5, FIG4, DXO, TFAP2D, H2AC6, MANEA, OR2J3, PPP2R5D, SYNCRIP, LY86, SEC63, CALHM4, ADGRF5, AIG1, PPP1R11, VNN1, LCA5, SLC22A16, ZKSCAN3, FGD2, HLA-DOA, RNF8, TTLL2, PIM1, PEX3, H3C10, H4C12, BTN3A2, CALHM5, TRIM31, COL11A2, TAAR6, RSPH3, PM20D2, FBXO30, HSPA1B, RPS6KA2, SOX4, MARCKS, SRF, SLC16A10, ELOVL2, MCCD1, TFAP2B, ABCF1, AGER, GFRAL, ELOVL5, SERPINB9, KPNA5, ZSCAN26, PTCRA, SFT2D1, FBXO9, LINC01600, ABCC10, MYB, RPP40, KLHL31, TCTE1, CASP8AP2, TCP11, MTFR2, FOXQ1, TRDN, GCLC, HLA-DRB1, RNF146, SNORD50B, TSPYL1, TRIM15, APOBEC2, PRRC2A, ADGRF1, UBE2J1, EZR, E2F3, PSMG4, KIAA0319, MIR133B, CRYBG1, MEA1, NHSL1, RIPOR2, CLIC1, TENT5A, HS3ST5, MCM3, ZNF184, ALDH5A1, HEBP2, CDKN1A, CAP2, TBXT, VNN2, FRS3, ERVH-3, C6orf141, MRPL2, RAET1L, GRIK2, OSTM1, MTRF1L, AMD1, H4C6, KU-MEL-3, USP49, PTCHD4, OR2B2, LTA, HSP90AB1, MED20, C6orf118, SLC22A1, HLA-DRB5, H2AC8, COL21A1, HINT3, BTBD9, NKAPL, H4C1, TPBG, H2AC4, KLHL32, MFSD4B, GPSM3, SLC22A3, BTN3A3, PRPF4B, ARFGEF3, IP6K3, LATS1, UST, GSTA3, DAXX, SLC44A4, WASF1, LYRM4, SLC25A27, SMPD2, TAGAP, BAG2, SCAF8, FKBPL, PXT1, OLIG3, GTF3C6, SRSF12, SLC17A2, OR2H2, DDX43, CCDC28A, NUP153, SIM1, CDC5L, RARS2, TXLNB, PPP1R3G, SNX3, PHIP, FILIP1, PGC, CCND3, ANKRD6, ABHD16A, RSPH9, MAD2L1BP, H2BC4, ZNF311, GUCA1B, CTAGE9, KLHDC3, TOMM6, ECHDC1, MPIG6B, RCAN2, PBOV1, ZNF292, GMDS, SDHAF4, HSPA1A, KIF25, CDSN, H3C1, DLK2, OPN5, MTO1, QKI, AK9, HSPA1L, HDGFL1, HLA-F, KIAA0408, HLA-G, THEMIS, ZUP1, H2BC13, TAB2, RHAG, MDFI, KAAG1, SAYSD1, MDGA1, ZSCAN16, LEMD2, RBM24, TSPO2, AIRN, RAB32, PI16, VWA7, DPPA5, NDUFAF4, ATF6B, CCDC167, OR2A4, CUTA, MCHR2, HDAC2, TMEM14B, POLH, DEF6, NFKBIL1, CLIC5, SPACA1, TMEM170B, EGFL8, PAK1IP1, ALDH8A1, HIVEP1, ARMT1, ENPP4, LRRC73, MOG, GJA10, CLPSL1, CGA, MAP3K5, ZDHHC14, RAB23, AKAP7, ITPR3, SPDEF, CLVS2, SCGN, LY6G6F, LINC02487, C6orf89, TCF19, RFPL4B, GLO1, CCN6, NOX3, SLC17A4, MTRES1, PEX6, DUSP22, HCG26, TNFRSF21, UNC5CL, RPP21, SNHG5, TFAP2A, PPIL6, EPM2A, TRX-CAT2-1, SNORD50A, RNF217-AS1, IRF4, B3GALT4, HDDC2, SKIV2L, OR12D3, SUPT3H, H4C7, KLC4, H2BC15, OARD1, USP45, PACRG, FANCE, PFDN6, SH3BGRL2, HIVEP2, LOC101926915, BTN2A2, TRAPPC3L, FAM217A, LOC729681, PHACTR1, METTL24, SGK1, TAP1, CILK1, ERMARD, H4C13, TUBB2B, ECT2L, MAN1A1, TRIM27, TRS-AGA2-3, ILRUN, AKAP12, C6orf120, UQCC2, MIR877, FLOT1, GCM2, HYMAI, MAPK14, TBC1D7, SLC18B1, VEGFA, PERP, EDN1, EPHA7, HLA-DMA, CDK19, ARHGAP18, HLA-DPA1, TRR-TCG4-1, ZNF391, HLA-DQB2, PRKN, ARID1B, ZBTB9, GJB7, MIR219A1, TRA-TGC7-1, RFX6, CITED2, CD164, ZSCAN23, FKBP5, SLC35D3, RGS17, KCNK17, FABP7, C6orf52, ADTRP, C6orf15, FAM83B, ATXN1, CCR6, POLR1C, GNMT, MLIP, FARS2, RNF217, TAF8, OR12D2, PRR18, KCTD20, TRS-TGA4-1, BMP6, MCM9, FAM120B, CGAS, H2BC11, TAPBP, CD83, PRSS35, FRMD1, CDC40, MAP3K7, RREB1, RING1, OFCC1, DDR1, ZBTB22, CSNK2B, H2AC14, MIR206, VARS2, NCR3, H2AC17, PPP1R10, RIMS1, THBS2, ZBTB12, SAMD5, REV3L, ULBP2, H3C6, RWDD2A, MYO6, OR11A1, TCF21, SLC26A8, ARMC12, VARS1, F13A1, KCNK16, SPATS1, LTV1, FAM162B, CMTR1, WDR46, TUBB, H1-4, LINC01621, C6orf62, ENPP3, TMEM30A, HLA-C, ZBED9, MRAP2, C4B, HEY2, CDKAL1, GRM1, ZKSCAN8, TIAM2, TREML4, ETV7, IYD, HLA-DQA1, EYA4, LPA, ZNF76, PSORS1C2, ANKRD66, KHDRBS2, RPS12, GSTA1, PLG, LYRM2, C6orf47, PRR3, RIOK1, VIP, KHDC1L, AFDN, BPHL, H1-1, HCP5, RNF182, TAAR9, BTN3A1, SRSF3, KIF6, BAK1, CARMIL1, PDCD2, CD109, ESR1, ECI2, PKHD1, C6orf136, LY6G6D, BRD2, FOXF2, MAS1, FBXO5, MED23, RSPH4A, SENP6, MAP3K4, SLC35F1, PRSS16, H4C2, SLC35B2, IBTK, FOXP4, LST1, ROS1, LY6G5C, ZNF318, CUL9, IRAK1BP1, AARS2, TRIM39, DEFB112, TAAR8, TULP4, TREML2, OR2B6, TMEM242, CRIP3, PNLDC1, HMGCLL1, RTN4IP1, HLA-DMB, CLPS, B3GAT2, VGLL2, PLEKHG1, GSTA2, H4C5, RXRB, RUNX2, GPRC6A, IL17A, HLA-DQB1, H2BC3, PPARD, GLP1R, KDM1B, MAP7, KIAA1586, H2BC5, IFNGR1, OOEP, TRAF3IP2, PHF10, ULBP1, DSP | | not provided | Pathogenic (Jan 5, 2017) | no assertion criteria provided | VCV000608767 |
| - GRCh37:
- Chr6:60107-171054786
| IBTK, ANKRD66, IRAK1BP1, IFNGR1, DYNLT2, AGPAT1, DEF6, COL9A1, POM121L2, METTL24, AGPAT4, H4C9, BCKDHB, H2BC17, POU5F1, MAPK14, RAB23, TIAM2, MYCT1, HLA-DMB, CDK19, FAM229B, PEX3, TCTE1, SCGN, PPARD, SMAP1, NKAIN2, TAAR1, VARS1, ESR1, USP49, ADGRG6, HACE1, BEND3, MBOAT1, BRPF3, BTN3A1, TMEM151B, LY6G5B, PBOV1, PEX7, CAPN11, MCM9, KLHDC3, RNF8, UBR2, NUP153, PHF1, KLHL32, EHMT2, ZNF322, GLP1R, PRDM13, SCML4, HLA-DPB1, H4C2, MRS2, MAK, IL22RA2, CGA, CDSN, GNMT, SAPCD1, ZNF165, ADTRP, ZSCAN23, RPS12, CUL9, FKBPL, TCP11, TAAR9, SMPD2, HMGN4, TREM1, MED20, ULBP3, COX7A2, PPP1R14C, SYNGAP1, HS3ST5, FILIP1, FOXQ1, LRRC1, RN7SK, HSPA1B, IL20RA, HLA-DOA, KHDC3L, DCBLD1, CTAGE9, NQO2, SPACA1, OARD1, RUNX2, TPD52L1, TNFRSF21, GRIK2, HSPA1A, LINC02901, PRPF4B, RIPK1, H4C13, PRSS16, PRL, MDN1, ENPP3, RWDD2A, MIR219A1, NEDD9, TULP4, SLC17A2, CRYBG1, BTN1A1, NHLRC1, LINC00951, RHAG, MIR133B, FABP7, CLPSL1, MDGA1, PACSIN1, CCNC, GRM1, XPO5, H1-4, SERPINB1, MRPS18B, FRS3, SYNCRIP, DACT2, POLR1C, FANCE, TPMT, ZBTB2, BNIP5, LINC02487, ASCC3, LINC01600, SLC17A3, GPSM3, ADAT2, SMPDL3A, AIRN, AARS2, BVES, CGAS, OOEP, BACH2, LGSN, POLH, ZC2HC1B, PAK1IP1, TRAPPC3L, MPC1, PSMB8, FOXF2, SLC17A5, AKAP12, ZSCAN16, MTRF1L, LCA5, GFRAL, AMD1, ELOVL4, LOC101926915, TAP2, HFE, TULP1, CITED2, POLR1H, C6orf62, TBC1D22B, GLO1, PRICKLE4, COL11A2, ULBP2, UNC93A, MAP3K5, TMEM200A, RANBP9, H4C7, GUCA1A, KLC4, NEU1, PACRG, COL21A1, SLC29A1, HDDC2, PFDN6, TMEM181, TRMT11, ETV7, GSTA3, HBS1L, DUSP22, H2AC7, ZKSCAN3, PNRC1, GFOD1, ECT2L, E2F3, STK19, EFHC1, TCF21, SUMO4, ZBTB24, PDSS2, VGLL2, SESN1, SYNE1, TRS-TGA2-1, EPB41L2, HMGA1, C6orf163, TOMM6, TREML1, ZSCAN26, ATXN1, OR2B3, MEA1, RGL2, ZNF318, LRFN2, TSTD3, RAB32, ATAT1, PHACTR2, TREML4, MTFR2, RNF217, HLA-C, CD83, MOXD1, LSM2, HLA-DQA2, MIR30A, BLOC1S5, HEY2, CD109, TFAP2A, BAK1, OGFRL1, SH3BGRL2, FUCA2, ARMC2, KCTD20, CEP57L1, KAAG1, DNAH8, SLC22A23, H3C6, AFDN, ALDH8A1, TAAR8, TEAD3, FAM83B, IL17A, ZNF391, SYTL3, SLC39A7, TUBB2B, H2AC12, MCM3, TMEM30A, TNF, CD2AP, SNHG32, ADGRF4, HTR1B, KCNK17, RPS18, ERVFRD-1, PERP, H2AC16, BAG6, TRDN, KHDC1, LIN28B, HDAC2, CFB, DSE, ARG1, BAG2, GPX6, H1-5, CPNE5, ALDH5A1, FBXO5, NOL7, ZBTB9, RIPPLY2, HLA-DRB5, ZBED9, TINAG, TAAR5, OPN5, GPR6, NFYA, MCUR1, CEP43, DHX16, CRISP2, TMEM14C, KIAA0408, BRD2, PRRC2A, SLC22A2, TPBG, RRAGD, PPP1R18, SENP6, SFTA2, GJB7, KIAA0319, H4C6, LINC01621, TRIM15, HINT3, HCRTR2, TRIM40, EXOC2, ZUP1, ARID1B, HIVEP1, H4C8, SNRNP48, LINC02539, SMOC2, DAAM2, RNF146, DEFB112, TUBE1, TAB2, PHACTR1, MICB, CALHM6, LTV1, RFPL4B, RING1, ZSCAN31, SLC22A16, DOP1A, OR2A4, RIOK1, USP45, TNFAIP3, FAM50B, SAYSD1, H2BC5, QKI, TRERF1, CENPQ, MYLIP, ABT1, OR5V1, CCND3, H3C2, C6orf52, HLA-DQB2, NKAPL, RSPH4A, ACAT2, H2BC1, ADGRF2, IPCEF1, PIM1, RNASET2, YIPF3, FKBP5, ZNF311, OR12D2, MAS1, C6orf136, GMDS, ERMARD, RNF182, TMEM244, CILK1, RNF217-AS1, PBX2, REPS1, PGBD1, NUP43, PPP1R11, EEF1E1, ZNF292, FNDC1, EZR, MIR206, PKIB, MUCL3, PDE10A, ANKRD6, H3C4, SEC63, FAM120B, SUPT3H, DLL1, AFG1L, GJA10, MAD2L1BP, LMBRD1, CMTR1, CCR6, KIF6, MAP3K7, ZFP57, SLC2A12, ELOVL2, HLA-DQA1, HCG26, B3GALT4, GCM1, SLC35B3, C6orf201, TTLL2, ACOT13, AKIRIN2, MICAL1, MTHFD1L, TRIM27, PNISR, PDE7B, TTK, PRKN, GTF2H5, SERPINB9, SMIM13, MRPS10, SOGA3, RPP40, VNN3, MRPL14, TMEM63B, SCUBE3, NUS1, PRDM1, SSR1, HULC, CDC40, PLA2G7, H2BC3, MLN, BMP6, KATNA1, SLC44A4, SPATS1, STXBP5, PHF10, TRAF3IP2-AS1, SNX14, NOTCH4, GSTA5, UNC5CL, COL10A1, SF3B5, FAM135A, F13A1, WRNIP1, SERAC1, PXDC1, SASH1, DDR1, GINM1, UHRF1BP1, CYP21A2, IYD, MPIG6B, C6orf58, GCLC, NOX3, FAM162B, SDHAF4, RAB44, MOG, AGER, H2AC4, HSF2, VWA7, DDX43, TSPYL1, HLA-DPA1, SLC17A1, FOXP4, LOC729681, GTF2H4, POPDC3, MMUT, PCMT1, PLG, IER3, UBD, BTN2A1, HLA-A, STX7, THEMIS, H4C5, RTN4IP1, DXO, MCCD1, ECHDC1, CEP162, SNORD50A, BYSL, MRPS18A, SOBP, RIMS1, PLEKHG1, LATS1, WASF1, NRM, C6orf118, PLAGL1, ENPP1, TAAR2, FBXL4, MTO1, ZDHHC14, TREML2, B3GAT2, TAGAP, MDC1, KHDRBS2, TRIM39-RPP21, GABRR1, NT5E, SYNE1-AS1, PPIL1, ELOVL5, PGM3, MANEA, LY6G6C, CCN2, SNHG5, EGFL8, GOPC, GPR31, H2AC17, HSP90AB1, TAPBP, C6orf226, KCNK5, RXRB, TTBK1, CCHCR1, CUL7, LHFPL5, LY86, H1-3, TRX-CAT1-2, PNLDC1, SPDEF, UST, MRPL2, PRR3, C6orf15, SLC35A1, ECI2, LY6G6F, MED23, HCG22, FYN, TRIM31, ATF6B, KIF13A, OR2H1, UQCC2, KCNK16, OR2J3, TRIM39, TUBB, TMEM14B, NHSL1, VNN1, HLA-F, NFKBIL1, SIRT5, ARMC12, PSORS1C1, AIF1, UBE3D, CAGE1, HLA-B, EPM2A, WDR46, SMIM29, CCN6, BTN3A2, TAAR6, BTN2A2, H2AC11, PPIL4, MTRES1, TREM2, H2AC8, TBPL1, PI16, CDKAL1, CLIC5, ABHD16A, H2BC15, SLC22A1, PSMB1, TCP1, TFAP2D, KIAA1586, TBXT, PNPLA1, CASP8AP2, OR2B2, UTRN, TRIM10, AKAP7, CNR1, MUC21, PXT1, TAP1, GJA1, C4B, SNAP91, H2BC8, LRP11, TSBP1, C6orf223, PGC, PEX6, MRPL18, TDP2, SERPINB6, NRSN1, FHL5, VARS2, RPL7L1, ARFGEF3, TRAM2, ZKSCAN8, GABRR2, OR2B6, PAQR8, EYS, ORC3, ZKSCAN4, IRF4, H2BC11, TMEM242, SRF, PRSS35, ENPP4, RSPH3, REV3L, PRPH2, TUBB2A, TBC1D32, RNF144B, OR2W1, MYB, TRA-TGC7-1, H3C7, H2BC9, PDCD2, H4C1, TMEM14A, SLC22A7, GTPBP2, PKHD1, KPNA5, HCP5, NRN1, OPRM1, PREP, PHF3, ME1, ID4, GPRC6A, ABCC10, MYO6, HEBP2, AIG1, H4C11, PTPRK, TMEM170B, MYLK4, KIF25, PHIP, LTB, HYMAI, DEFB110, FAM184A, GTF3C6, MRAP2, OR2H2, OFCC1, RAET1G, MAPK13, LYRM2, ZFAND3, H1-6, EPHA7, RNF5, VNN2, SRPK1, ABCF1, POU3F2, RSPO3, BCLAF1, ENPP5, L3MBTL3, SDIM1, DSP, SLC22A3, CENPW, H1-2, H4C3, H2BC12, TRX-CAT2-1, CCDC170, DEFB113, PSMB9, MAP3K4, APOM, EDN1, BTN3A3, SMIM8, MTCH1, LAMA4, H2BC6, DLK2, THBS2, ILRUN, CAP2, H2BC13, LOC101927189, FAM8A1, SIM1, TJAP1, PPIL6, NDUFAF4, ARMT1, GCNT2, MOCS1, FARS2, ADGB, PM20D2, BICRAL, CRIP3, LY6G5C, H2BC10, RPL10A, HLA-DRA, HTR1E, CALHM5, CRISP3, ADGRF5, C6orf132, CDYL, SYNJ2, H3C8, MAN1A1, ZSCAN9, OLIG3, MDFI, BMP5, LY6G6D, H2BC4, VPS52, ZC3H12D, SLC26A8, ZBTB22, AHI1, TSPYL4, H2AC14, SLC35B2, IP6K3, NR2E1, CALHM4, FBXO9, C6orf141, MCHR2, CD164, SFT2D1, NFKBIE, H2AC6, LPA, HMGN3, NUDT3, TSPO2, DDAH2, FAM217A, OR10C1, PTCHD4, FRMD1, SNRPC, HSD17B8, ANKS1A, SNX3, RBM24, NT5DC1, BTNL2, CFAP206, SNORD50B, FUT9, SMLR1, ROS1, SNX9, IMPG1, ZNF76, C2, KIFC1, KHDC1L, H2BC7, MLIP, ZBTB12, UFL1, MUC22, TFEB, CARMIL1, PPP1R10, RAET1E, NMBR, C4A, CLIC1, LTA, FAXC, WTAP, TRIM26, H3C10, RGS17, ASF1A, COQ3, AK9, PRR18, HCG17, H2AC1, IGF2R, FOXO3, SKIV2L, DPPA5, TRS-TGA4-1, SLC35D3, MMS22L, TNXB, OR11A1, MAS1L, HLA-G, PLN, SOD2, GABBR1, SHPRH, FLOT1, HLA-E, ZSCAN12, RMND1, TRAF3IP2, HECA, HLA-DOB, HUS1B, JARID2, H2BC14, NCR2, HDGFL1, TMEM217, CUTA, BEND6, SAMD5, TBP, CNKSR3, RPF2, DDX39B, MARCKS, TFAP2B, DNPH1, FBXO30, TCF19, H4C12, CLDN20, CYP39A1, CEP85L, PPP1R3G, CNPY3, PTCRA, MFSD4B, ULBP1, RRP36, CLVS2, H3C3, APOBEC2, LAMA2, LYRM4, STMND1, FRK, H2AC13, RWDD1, TDRD6, HSPA1L, TRIM38, GSTA1, EEF1A1, OR12D3, RAET1L, SOX4, DDO, GLYATL3, DEK, TBCC, OR2J2, VTA1, C6orf89, SLC17A4, CSNK2B, KCNQ5, NELFE, RIPOR2, RCAN2, SGK1, KLHL31, KU-MEL-3, SLC35F1, HLA-DRB1, OSTM1, TRS-AGA2-3, CDC5L, PPT2, RSPH9, GPANK1, MIR877, MICA, GSTA2, GNL1, RPS10, GPLD1, COL19A1, H2AC15, HLA-DMA, FIG4, FGD2, PPP2R5D, C6orf47, RNGTT, SLC18B1, NCR3, GUCA1B, WDR27, ITPR3, CLPSL2, HIVEP2, OR14J1, TXLNB, TFB1M, RARS2, BTBD9, C6orf120, HLA-DQB1, CCDC167, GPX5, PRRT1, IL17F, ARHGAP18, VEGFA, TBX18, CCDC28A, DYNLT1, CYB5R4, SYCP2L, EYA4, UBE2J1, GCM2, PGK2, SERINC1, HMGCLL1, VIP, H4C4, MEP1A, RREB1, ZNF451, H3C1, LRRC73, CRISP1, PSORS1C2, DTNBP1, DAXX, RNF39, GMPR, GSTA4, COL12A1, GMNN, TAF11, STK38, DEFB114, ATP6V1G2, TBC1D7, MAP7, H3C11, FOXC1, ADGRF1, TRR-TCG4-1, CDKN1A, RPS6KA2, SRSF12, H3C12, PTK7, ZNF184, SLC25A27, RPP21, CLPS, BPHL, NCOA7, ATG5, PSMG4, TAF8, STX11, RFX6, PTP4A1, SAMD3, SCAF8, MSH5, ERVH-3, LEMD2, SLC16A10, GPR63, ADGRB3, KDM1B, DCDC2, ABRACL, TENT5A, QRSL1, LST1, H1-1, GRM4, SRSF3 | | not provided | Pathogenic (Jan 1, 2013) | no assertion criteria provided | VCV000608764 |
| - GRCh37:
- Chr6:156975-170919482
| GABBR1, GABRR1, CD2AP, CD83, CDC40, CDC5L, CDK19, CDKAL1, CDKN1A, CDSN, CDYL, CENPQ, CENPW, CEP162, CEP43, CEP57L1, CEP85L, CFAP206, CFB, CGA, CGAS, CILK1, CITED2, CLDN20, CLIC1, CLIC5, CLPS, CLPSL1, CLPSL2, CLVS2, CMTR1, CNKSR3, CNPY3, CNR1, COL10A1, COL11A2, COL12A1, COL19A1, COL21A1, COL9A1, COQ3, COX7A2, CPNE5, CRIP3, CRISP1, CRISP2, CRISP3, CRYBG1, CYB5R4, CSNK2B, CTAGE9, CUL7, CUL9, CUTA, CYP21A2, CYP39A1, DAAM2, DACT2, DAXX, DCBLD1, DCDC2, DDAH2, DDO, DEFB110, DDR1, DDX39B, DDX43, DEF6, DEFB112, DEFB113, DEFB114, DEK, DHX16, DLK2, DLL1, DNAH8, DNPH1, DOP1A, DPPA5, DSE, DSP, DTNBP1, DUSP22, DXO, DYNLT1, DYNLT2, E2F3, ECHDC1, ECI2, ECT2L, EDN1, EEF1A1, EEF1E1, EFHC1, EGFL8, EHMT2, ELOVL2, ELOVL4, ELOVL5, ENPP1, ENPP3, ENPP4, ENPP5, EPB41L2, EPHA7, EPM2A, ERMARD, ERVFRD-1, ERVH-3, ESR1, ETV7, EXOC2, EYA4, EYS, EZR, F13A1, FABP7, FAM120B, FAM135A, FAM162B, FAM184A, FAM217A, FAM229B, FAM50B, FAM83B, FAM8A1, FANCE, FARS2, FAXC, FBXL4, FBXO30, FBXO5, FBXO9, FGD2, FHL5, FIG4, FILIP1, FKBP5, FKBPL, FLOT1, FNDC1, FOXC1, FOXF2, FOXO3, FOXP4, FOXQ1, FRK, FRMD1, FRS3, FUCA2, FUT9, FYN, GABRR2, GCLC, GCM1, GCM2, GCNT2, GFOD1, GFRAL, GINM1, GJA1, GJA10, GJB7, GLO1, GLP1R, GLYATL3, GMDS, GMNN, GMPR, GNL1, GNMT, GOPC, GPANK1, GPLD1, GPR31, GPR6, GPR63, GPRC6A, GPSM3, GPX5, GPX6, GRIK2, GRM1, GRM4, GSTA1, GSTA2, GSTA3, GSTA4, GSTA5, GTF2H4, GTF2H5, GTF3C6, GTPBP2, GUCA1A, GUCA1B, H1-1, H1-2, H1-3, H1-4, H1-5, H1-6, H2AC1, H2AC11, H2AC12, H2AC13, H2AC14, H2AC15, H2AC16, H2AC17, H2AC4, H2AC6, H2AC7, H2AC8, H2BC1, H2BC10, H2BC11, H2BC12, H2BC13, H2BC14, H2BC15, H2BC17, H2BC3, H2BC4, H2BC5, H2BC6, H2BC7, H2BC8, H2BC9, H3C1, H3C10, H3C11, H3C12, H3C2, H3C3, H3C4, H3C6, H3C7, H3C8, H4C1, H4C11, H4C12, H4C13, H4C2, H4C3, H4C4, H4C5, H4C6, H4C7, H4C8, H4C9, HACE1, HBS1L, HCG17, HCG22, HCG26, HCP5, HCRTR2, HDAC2, HDDC2, HDGFL1, HEBP2, HECA, HEY2, HFE, HINT3, HIVEP1, HIVEP2, HLA-A, HLA-B, HLA-C, HLA-DMA, HLA-DMB, HLA-DOA, HLA-DOB, HLA-DPA1, HLA-DPB1, HLA-DQA1, HLA-DQA2, HLA-DQB1, HLA-DQB2, HLA-DRA, HLA-DRB1, HLA-DRB5, HLA-E, HLA-F, HS3ST5, HLA-G, HMGA1, HMGCLL1, HMGN3, HMGN4, HSD17B8, HSF2, HSP90AB1, HSPA1A, HSPA1B, HSPA1L, HTR1B, HTR1E, HULC, HUS1B, HYMAI, IBTK, ID4, IER3, IFNGR1, IGF2R, IL17A, IL17F, IL20RA, IL22RA2, ILRUN, IMPG1, IP6K3, IPCEF1, IRAK1BP1, IRF4, ITPR3, IYD, JARID2, KAAG1, KATNA1, KCNK16, KCNK17, KCNK5, KCNQ5, KCTD20, KDM1B, KHDC1, KHDC1L, KHDC3L, KHDRBS2, KIAA0319, KIAA0408, KIAA1586, KIF13A, KIF25, KIF6, KIFC1, KLC4, KLHDC3, KLHL31, KLHL32, KPNA5, KU-MEL-3, L3MBTL3, LAMA2, LAMA4, LATS1, LCA5, LEMD2, LGSN, LHFPL5, LIN28B, LINC00951, LINC01600, LINC01621, LINC02487, LINC02539, LINC02901, LMBRD1, LOC101926915, LOC101927189, LOC729681, LPA, LRFN2, LRP11, LRRC1, LRRC73, LSM2, LST1, LTA, LTB, LTV1, LY6G5B, LY6G5C, LY6G6C, LY6G6D, LY6G6F, LY86, LYRM2, LYRM4, MAD2L1BP, MAK, MAN1A1, MANEA, MAP3K4, MAP3K5, MAP3K7, MAP7, MAPK13, MAPK14, MARCKS, MAS1, MAS1L, MBOAT1, MCCD1, MCHR2, MCM3, MCM9, MCUR1, MDC1, MDFI, MDGA1, MDN1, ME1, MEA1, MED20, MED23, MEP1A, METTL24, MFSD4B, MICA, MICAL1, MICB, MIR133B, MIR206, MIR219A1, MIR30A, MIR877, MLIP, MLN, MMS22L, MMUT, MOCS1, MOG, MOXD1, MPC1, MPIG6B, MRAP2, MRPL14, MRPL18, MRPL2, MRPS10, MRPS18A, MRPS18B, MRS2, MTRES1, MSH5, MTCH1, MTFR2, MTHFD1L, MTO1, MTRF1L, MUC21, MUC22, MUCL3, MYB, MYCT1, MYLIP, MYLK4, MYO6, NCOA7, NCR2, NCR3, NDUFAF4, NEDD9, NELFE, NEU1, NFKBIE, NFKBIL1, NFYA, NHLRC1, NHSL1, NKAIN2, NKAPL, NMBR, NOL7, NOTCH4, NOX3, NQO2, NR2E1, NRM, NRN1, NRSN1, NT5DC1, NT5E, NUDT3, NUP153, NUP43, NUS1, OARD1, OFCC1, OGFRL1, OLIG3, OOEP, OPN5, OPRM1, OR10C1, OR11A1, OR12D2, OR12D3, OR14J1, OR2A4, OR2B2, OR2B3, OR2B6, OR2H1, OR2H2, PAQR8, OR2J2, OR2J3, OR2W1, OR5V1, ORC3, OSTM1, PACRG, PACSIN1, PAK1IP1, PBOV1, PBX2, PCMT1, PDCD2, PDE10A, PDE7B, PDSS2, PERP, PEX3, PEX6, PEX7, PFDN6, PGBD1, PGC, PGK2, PGM3, PHACTR1, PHACTR2, PHF1, PHF10, PHF3, PHIP, PI16, PIM1, PKHD1, PKIB, PLA2G7, PLAGL1, PLEKHG1, PLG, PLN, PM20D2, PNISR, PNLDC1, PNPLA1, PNRC1, POLH, POLR1C, POLR1H, POM121L2, POPDC3, POU3F2, POU5F1, PPARD, PPIL1, PPIL4, PPIL6, PPP1R10, PPP1R11, PPP1R14C, PPP1R18, PPP1R3G, PPP2R5D, PPT2, PRDM1, PRDM13, PREP, PRICKLE4, PRKN, PRL, PRPF4B, PRPH2, PRR18, PRR3, PRRC2A, PRRT1, PRSS16, PRSS35, PSMB1, PSMB8, PSMB9, PSMG4, PSORS1C1, PSORS1C2, PTCHD4, PTCRA, PTK7, PTP4A1, PTPRK, PXDC1, PXT1, QKI, QRSL1, RAB23, RAB32, RAB44, RAET1E, RAET1G, RAET1L, RANBP9, RARS2, RBM24, RCAN2, REPS1, REV3L, RFPL4B, RFX6, RGL2, RGS17, RHAG, RIMS1, RING1, RIOK1, RIPK1, RIPOR2, RIPPLY2, RMND1, RN7SK, RNASET2, RNF144B, RNF146, RNF182, RNF217, RNF217-AS1, RNF39, RPL10A, RNF5, RNF8, RNGTT, ROS1, RPF2, RPL7L1, RPP21, RPP40, RPS10, RPS12, RPS18, RPS6KA2, RRAGD, RREB1, RRP36, RSPH3, RSPH4A, RSPH9, RSPO3, RTN4IP1, RUNX2, RWDD1, RWDD2A, RXRB, SAMD3, SAMD5, SAPCD1, SASH1, SAYSD1, SCAF8, SCGN, SCML4, SCUBE3, SDHAF4, SDIM1, SEC63, SENP6, SERAC1, SERINC1, SERPINB1, SERPINB6, SERPINB9, SESN1, SF3B5, SFT2D1, SFTA2, SGK1, SH3BGRL2, SHPRH, SIM1, SIRT5, SKIV2L, SLC16A10, SLC17A1, SLC17A2, SLC17A3, SLC17A4, SLC17A5, SLC18B1, SLC22A1, SLC22A16, SLC22A2, SLC22A23, SLC22A3, SLC22A7, SLC25A27, SLC26A8, SLC29A1, SLC2A12, SLC35A1, SLC35B2, SLC35B3, SLC35D3, SLC35F1, SLC39A7, SLC44A4, SMAP1, SMIM13, SMIM29, SMIM8, SMLR1, SMOC2, SMPD2, SMPDL3A, SNAP91, SNHG32, SNHG5, SNORD50A, SNORD50B, SNRNP48, SNRPC, SNX14, SNX3, SNX9, SOBP, SOD2, SOGA3, SOX4, SPACA1, SPATS1, SPDEF, SRF, SRPK1, SRSF12, SRSF3, SSR1, STK19, STK38, STMND1, STX11, STX7, STXBP5, SUMO4, SUPT3H, SYCP2L, SYNCRIP, SYNE1, SYNE1-AS1, SYNGAP1, SYNJ2, SYTL3, TAAR1, TAAR2, TAAR5, TAAR6, TAAR8, TAAR9, TAB2, TAF11, TAF8, TAGAP, TAP1, TAP2, TAPBP, TBC1D22B, TBC1D32, TBC1D7, TBCC, TBP, TBPL1, TBX18, TBXT, TDP2, TCF19, TCF21, TCP1, TCP11, TCTE1, TDRD6, TEAD3, TENT5A, TFAP2A, TFAP2B, TFAP2D, TFB1M, TFEB, THBS2, THEMIS, TIAM2, TINAG, TJAP1, TMEM14A, TMEM14B, TMEM14C, TMEM151B, TMEM170B, TMEM181, TMEM200A, TMEM217, TMEM242, TMEM244, TMEM30A, TMEM63B, TNF, TNFAIP3, TNFRSF21, TRDN, TNXB, TOMM6, TPBG, TPD52L1, TPMT, TRA-TGC7-1, TRAF3IP2, TRAF3IP2-AS1, TRAM2, TRAPPC3L, TREM1, TREM2, TREML1, TREML2, TREML4, TRERF1, TRIM10, TRIM15, TRIM26, TRIM27, TRIM31, TRIM38, TRMT11, TRIM39, TRIM39-RPP21, TRIM40, TRR-TCG4-1, TRS-AGA2-3, TRS-TGA2-1, TRS-TGA4-1, TRX-CAT1-2, TRX-CAT2-1, TSBP1, TSPO2, TSPYL1, TSPYL4, TSTD3, TTBK1, TTK, TTLL2, TUBB, TUBB2A, TUBB2B, TUBE1, TULP1, TULP4, TXLNB, UBD, UBE2J1, UBE3D, UBR2, UFL1, UHRF1BP1, ULBP1, ULBP2, ULBP3, UNC5CL, UNC93A, UQCC2, USP45, USP49, UST, UTRN, VARS1, VARS2, VEGFA, VGLL2, VIP, VNN1, VNN2, VNN3, VPS52, VTA1, VWA7, WASF1, WDR27, WDR46, WRNIP1, WTAP, XPO5, YIPF3, ZBED9, ZBTB12, ZBTB2, ZBTB22, ZBTB24, ZBTB9, ZC2HC1B, ZC3H12D, ZDHHC14, ZFAND3, ZFP57, ZKSCAN3, ZKSCAN4, ZKSCAN8, ZNF165, ZNF184, ZNF292, ZNF311, ZNF318, ZNF322, ZNF391, ZNF451, ZNF76, ZSCAN12, ZSCAN16, ZSCAN23, ZSCAN26, ZSCAN31, ZSCAN9, ZUP1, AARS2, ABCC10, ABCF1, ABHD16A, ABRACL, ABT1, ACAT2, ACOT13, ADAT2, ADGB, ADGRB3, ADGRF1, ADGRF2, ADGRF4, ADGRF5, ADGRG6, ADTRP, AFDN, AFG1L, AKIRIN2, AGER, AGPAT1, AGPAT4, AHI1, AIF1, AIG1, AIRN, AK9, AKAP12, AKAP7, ALDH5A1, ALDH8A1, AMD1, ANKRD6, ANKRD66, ANKS1A, APOBEC2, APOM, ARFGEF3, ARG1, ARHGAP18, ARID1B, ARMC12, ARMC2, ARMT1, ASCC3, ASF1A, ATAT1, ATF6B, ATG5, ATP6V1G2, ATXN1, B3GALT4, B3GAT2, BACH2, BAG2, BAG6, BAK1, BCKDHB, BCLAF1, BEND3, BEND6, BICRAL, BLOC1S5, BMP5, BMP6, BNIP5, BPHL, BRD2, BRPF3, BTBD9, BTN1A1, BTN2A1, BTN2A2, BTN3A1, BTN3A2, BTN3A3, C4A, BTNL2, BVES, BYSL, C2, C4B, C6orf118, C6orf120, C6orf132, C6orf136, C6orf141, C6orf15, C6orf163, C6orf201, C6orf223, C6orf226, C6orf47, C6orf52, C6orf58, C6orf62, C6orf89, CAGE1, CALHM4, CALHM5, CALHM6, CAP2, CAPN11, CARMIL1, CASP8AP2, CCDC167, CCDC170, CCDC28A, CD109, CCHCR1, CCN2, CCN6, CCNC, CCND3, CCR6, CD164 | | See cases | Pathogenic (Jul 14, 2015) | no assertion criteria provided | VCV000443497 |
| - GRCh37:
- Chr6:156975-170919482
| CYP21A2, CYP39A1, C4A, C4B, C6orf118, C6orf120, C6orf132, C6orf136, C6orf141, C6orf15, C6orf163, C6orf201, C6orf223, C6orf226, C6orf47, C6orf52, C6orf58, C6orf62, C6orf89, CAGE1, CALHM4, CALHM5, CALHM6, CAP2, CAPN11, CARMIL1, CASP8AP2, CCDC167, CCDC170, CCDC28A, CCHCR1, CCN2, CCN6, CCNC, CCND3, CCR6, CD109, CD164, CD2AP, CD83, CDC40, CDC5L, CDK19, CDKAL1, CDKN1A, CDSN, CDYL, CENPQ, CENPW, CEP162, CEP43, CEP57L1, CEP85L, CFAP206, CFB, CGA, CGAS, CILK1, CITED2, CLDN20, CLIC1, CLIC5, CLPS, CLPSL1, CLPSL2, CLVS2, CMTR1, CNKSR3, CNPY3, CNR1, COL10A1, COL11A2, COL12A1, COL19A1, COL21A1, COL9A1, COQ3, COX7A2, CPNE5, CRIP3, CRISP1, CRISP2, CRISP3, CRYBG1, CSNK2B, CTAGE9, CUL7, CUL9, CUTA, CYB5R4, DAAM2, DACT2, DAXX, DCBLD1, DCDC2, DDAH2, DDO, DDR1, DDX39B, DDX43, DEF6, DEFB110, DEFB112, DEFB113, DEFB114, DEK, DHX16, DLK2, DLL1, DNAH8, DNPH1, DOP1A, DPPA5, DSE, DSP, DTNBP1, DUSP22, DXO, DYNLT1, DYNLT2, E2F3, ECHDC1, ECI2, ECT2L, EDN1, EEF1A1, EEF1E1, EFHC1, EGFL8, EHMT2, ELOVL2, ELOVL4, ELOVL5, ENPP1, ENPP3, ENPP4, ENPP5, EPB41L2, EPHA7, EPM2A, ERMARD, ERVFRD-1, ERVH-3, ESR1, ETV7, EXOC2, EYA4, EYS, EZR, F13A1, FABP7, FAM120B, FAM135A, FAM162B, FAM184A, FAM217A, FAM229B, FAM50B, FAM83B, FAM8A1, FANCE, FARS2, FAXC, FBXL4, FBXO30, FBXO5, FBXO9, FGD2, FHL5, FIG4, FILIP1, FKBP5, FKBPL, FOXP4, FLOT1, FNDC1, FOXC1, FOXF2, FOXO3, FOXQ1, FRK, FRMD1, FRS3, FUCA2, FUT9, FYN, GABBR1, GABRR1, GABRR2, GCLC, GCM1, GCM2, GCNT2, GFOD1, GFRAL, GINM1, GJA1, GJA10, GJB7, GLO1, GLP1R, GLYATL3, GMDS, GMNN, GMPR, GNL1, GNMT, GOPC, GPANK1, GPLD1, GPR31, GPR6, GPR63, GPRC6A, GPSM3, GPX5, GPX6, GRIK2, GRM1, GRM4, GSTA1, GSTA2, GSTA3, GSTA4, GSTA5, GTF2H4, GTF2H5, GTF3C6, GTPBP2, GUCA1A, GUCA1B, H1-1, H1-2, H1-3, H1-4, H1-5, H1-6, H2AC1, H2AC11, H2AC12, H2AC13, H2AC14, H2AC15, H2AC16, H2AC17, H2AC4, H2AC6, H2AC7, H2AC8, H2BC1, H2BC10, H2BC11, H2BC12, H2BC13, H2BC14, H2BC15, H2BC17, H2BC3, H2BC4, H2BC5, H2BC6, H2BC7, H2BC8, H2BC9, H3C1, H3C10, H3C11, H3C12, H3C2, H3C3, H3C4, H3C6, H3C7, H3C8, H4C1, H4C11, H4C12, H4C13, H4C2, H4C3, H4C4, H4C5, H4C6, H4C7, H4C8, H4C9, HACE1, HBS1L, HCG17, HCG22, HCG26, HCP5, HCRTR2, HDAC2, HDDC2, HDGFL1, HEBP2, HECA, HEY2, HFE, HINT3, HIVEP1, HIVEP2, HLA-A, HLA-B, HLA-C, HLA-DMA, HLA-DMB, HLA-DOA, HLA-DOB, HLA-DPA1, HLA-DPB1, HLA-DQA1, HLA-DQA2, HLA-DQB1, HLA-DQB2, HLA-DRA, HLA-DRB1, HLA-DRB5, HLA-E, HLA-F, HS3ST5, HLA-G, HMGA1, HMGCLL1, HMGN3, HMGN4, HSD17B8, HSF2, HSP90AB1, HSPA1A, HSPA1B, HSPA1L, HTR1B, HTR1E, HULC, HUS1B, HYMAI, IBTK, ID4, IER3, IFNGR1, IGF2R, IL17A, IL17F, IL20RA, IL22RA2, ILRUN, IMPG1, IP6K3, IPCEF1, IRAK1BP1, IRF4, ITPR3, IYD, JARID2, KAAG1, KATNA1, KCNK16, KCNK17, KCNK5, KCNQ5, KCTD20, KDM1B, KHDC1, KHDC1L, KHDC3L, KHDRBS2, KIAA0319, KIAA0408, KIAA1586, KIF13A, KIF25, KIF6, KIFC1, KLC4, KLHDC3, KLHL31, KLHL32, KPNA5, KU-MEL-3, L3MBTL3, LAMA2, LAMA4, LATS1, LCA5, LEMD2, LGSN, LHFPL5, LIN28B, LINC00951, LINC01600, LINC01621, LINC02487, LINC02539, LINC02901, LMBRD1, LOC101926915, LOC101927189, LOC729681, LPA, LRFN2, LRP11, LRRC1, LRRC73, LSM2, LST1, LTA, LTB, LTV1, LY6G5B, LY6G5C, LY6G6C, LY6G6D, LY6G6F, LY86, LYRM2, LYRM4, MAD2L1BP, MAK, MAN1A1, MANEA, MAP3K4, MAP3K5, MAP3K7, MAP7, MAPK13, MAPK14, MARCKS, MAS1, MAS1L, MBOAT1, MCCD1, MCHR2, MCM3, MCM9, MCUR1, MDC1, MDFI, MDGA1, MDN1, ME1, MEA1, MED20, MED23, MEP1A, METTL24, MFSD4B, MICA, MICAL1, MICB, MIR133B, MIR206, MIR219A1, MIR30A, MIR877, MLIP, MLN, MMS22L, MMUT, MOCS1, MOG, MOXD1, MPC1, MRPS10, MPIG6B, MRAP2, MRPL14, MRPL18, MRPL2, MRPS18A, MRPS18B, MRS2, MSH5, MTCH1, MTFR2, MTHFD1L, MTO1, MTRES1, MTRF1L, MUC21, MUC22, MUCL3, MYB, MYCT1, MYLIP, MYLK4, MYO6, NCOA7, NCR2, NCR3, NDUFAF4, NEDD9, NELFE, NEU1, NFKBIE, NFKBIL1, NFYA, NHLRC1, NHSL1, NKAIN2, NKAPL, NMBR, NOL7, NOTCH4, NOX3, NQO2, NR2E1, NRM, NRN1, NRSN1, NT5DC1, NT5E, NUDT3, NUP153, NUP43, NUS1, OARD1, OFCC1, OGFRL1, OLIG3, OOEP, OPN5, OPRM1, OR10C1, OR11A1, OR12D2, OR12D3, OR14J1, OR2A4, OR2B2, OR2B3, OR2B6, AARS2, ABCC10, ABCF1, ABHD16A, ABRACL, ABT1, ACAT2, ACOT13, ADAT2, ADGB, ADGRB3, ADGRF1, |