| - GRCh37:
- Chr1:40928087-45133712
- GRCh38:
- Chr1:40462415-44668040
| ARTN, ATP6V0B, B4GALT2, C1orf210, C1orf50, CCDC24, CCDC30, CDC20, CDC20-DT, CFAP144, CFAP57, CITED4, CLDN19, CTPS1, DMAP1, DPH2, EBNA1BP2, EDN2, ELOVL1, ERI3, ERI3-IT1, ERMAP, EXO5, EXO5-DT, FOXJ3, FOXO6, FOXO6-AS1, GUCA2A, GUCA2B, HIVEP3, HYI, HYI-AS1, IPO13, KCNQ4, KDM4A, KDM4A-AS1, KLF17, KLF18, LOC101929609, LOC110120642, LOC110120644, LOC110121214, LOC111464991, LOC112577599, LOC112590790, LOC112590791, LOC112590792, LOC112590793, LOC112590794, LOC112590795, LOC120893133, LOC121725016, LOC121725017, LOC121725018, LOC121725019, LOC121725020, LOC122056845, LOC122056846, LOC122056847, LOC122056848, LOC122056849, LOC122056850, LOC122056851, LOC122056852, LOC122056853, LOC122056854, LOC126805714, LOC126805715, LOC126805716, LOC126805717, LOC126805718, LOC126805719, LOC126805720, LOC126805721, LOC126805722, LOC126805723, LOC126805724, LOC126805725, LOC126805726, LOC128125817, LOC128900003, LOC128900004, LOC129388502, LOC129388503, LOC129388504, LOC129388505, LOC129930268, LOC129930269, LOC129930270, LOC129930271, LOC129930272, LOC129930273, LOC129930274, LOC129930275, LOC129930276, LOC129930277, LOC129930278, LOC129930279, LOC129930280, LOC129930281, LOC129930282, LOC129930283, LOC129930284, LOC129930285, LOC129930286, LOC129930287, LOC129930288, LOC129930289, LOC129930290, LOC129930291, LOC129930292, LOC129930293, LOC129930294, LOC129930295, LOC129930296, LOC129930297, LOC129930298, LOC129930299, LOC129930300, LOC129930301, LOC129930302, LOC129930303, LOC129930304, LOC129930305, LOC129930306, LOC129930307, LOC129930308, LOC129930309, LOC129930310, LOC129930311, LOC129930312, LOC129930313, LOC129930314, LOC129930315, LOC129930316, LOC129930317, LOC129930318, LOC129930319, LOC129930320, LOC129930321, LOC129930322, LOC129930323, LOC129930324, LOC129930325, LOC129930326, LOC129930327, LOC129930328, LOC129930329, LOC129930330, LOC129930331, LOC129930332, LOC129930333, LOC129930334, LOC129930335, LOC129930336, LOC129930337, LOC129930338, LOC129930339, LOC129930340, LOC129930341, LOC129930342, LOC129930343, LOC129930344, LOC129930345, LOC129930346, LOC129930347, LOC129930348, LOC129930349, LOC129930350, LOC129930351, LOC129930352, LOC129930353, LOC129930354, LOC129930355, LOC129930356, LOC129930357, LOC129930358, LOC129930359, LOC129930360, LOC129930361, LOC129930362, LOC129930363, LOC129930364, LOC129930365, LOC129930366, LOC129930367, LOC129930368, LOC129930369, LOC129930370, LOC129930371, LOC129930372, LOC129930373, LOC129930374, LOC129930375, LOC129930376, LOC129930377, LOC129930378, LOC129930379, LOC129930380, LOC129930381, LOC129930382, LOC129930383, LOC129930384, LOC129930385, LOC129930386, LOC129930387, LOC129930388, LOC129930389, LOC129930390, LOC129930391, LOC129930392, LOC129930393, LOC129930394, LOC129930395, LOC129930396, LOC129930397, LOC129930398, LOC129930399, LOC129930400, LOC129930401, LOC129930402, LOC129930403, LOC129930404, LOC129930405, LOC129930406, LOC129930407, LOC129930408, LOC129930409, LOC129930410, LOC129930411, LOC129930412, LOC129930413, LOC129930414, LOC132088718, LOC132088719, LOC132088721, LOC132088722, LOC339539, MED8, MIR30C1, MIR30E, MIR5584, MIR6079, MIR6733, MIR6734, MIR6735, MPL, NFYC, NFYC-AS1, P3H1, PPCS, PPIH, PTPRF, RIMKLA, RIMS3, RNF220, SCMH1, SCMH1-DT, SLC2A1, SLC2A1-DT, SLC6A9, SLFNL1, SLFNL1-AS1, SNORA110, ST3GAL3, ST3GAL3-AS1, SVBP, SZT2, SZT2-AS1, TIE1, TMEM125, TMEM269, TMEM269-DT, TMEM53, YBX1, ZFP69, ZFP69B, ZMYND12, ZNF684, ZNF691, ZNF691-DT | | See cases | Pathogenic (Aug 12, 2011) | criteria provided, single submitter |
| - GRCh37:
- Chr1:41158961-44979776
- GRCh38:
- Chr1:40693289-44514104
| ARTN, ATP6V0B, B4GALT2, C1orf210, C1orf50, CCDC24, CCDC30, CDC20, CDC20-DT, CFAP144, CFAP57, CITED4, CLDN19, CTPS1, DMAP1, DPH2, EBNA1BP2, EDN2, ELOVL1, ERI3, ERI3-IT1, ERMAP, FOXJ3, FOXO6, FOXO6-AS1, GUCA2A, GUCA2B, HIVEP3, HYI, HYI-AS1, IPO13, KCNQ4, KDM4A, KDM4A-AS1, KLF17, KLF18, LOC101929609, LOC110120642, LOC110121214, LOC111464991, LOC112590790, LOC112590791, LOC112590792, LOC112590793, LOC112590794, LOC112590795, LOC120893133, LOC121725016, LOC121725017, LOC121725018, LOC121725019, LOC121725020, LOC122056845, LOC122056846, LOC122056847, LOC122056848, LOC122056849, LOC122056850, LOC122056851, LOC122056852, LOC122056853, LOC122056854, LOC126805715, LOC126805716, LOC126805717, LOC126805718, LOC126805719, LOC126805720, LOC126805721, LOC126805722, LOC126805723, LOC126805724, LOC126805725, LOC126805726, LOC128125817, LOC128900003, LOC128900004, LOC129388502, LOC129388503, LOC129388504, LOC129388505, LOC129930278, LOC129930279, LOC129930280, LOC129930281, LOC129930282, LOC129930283, LOC129930284, LOC129930285, LOC129930286, LOC129930287, LOC129930288, LOC129930289, LOC129930290, LOC129930291, LOC129930292, LOC129930293, LOC129930294, LOC129930295, LOC129930296, LOC129930297, LOC129930298, LOC129930299, LOC129930300, LOC129930301, LOC129930302, LOC129930303, LOC129930304, LOC129930305, LOC129930306, LOC129930307, LOC129930308, LOC129930309, LOC129930310, LOC129930311, LOC129930312, LOC129930313, LOC129930314, LOC129930315, LOC129930316, LOC129930317, LOC129930318, LOC129930319, LOC129930320, LOC129930321, LOC129930322, LOC129930323, LOC129930324, LOC129930325, LOC129930326, LOC129930327, LOC129930328, LOC129930329, LOC129930330, LOC129930331, LOC129930332, LOC129930333, LOC129930334, LOC129930335, LOC129930336, LOC129930337, LOC129930338, LOC129930339, LOC129930340, LOC129930341, LOC129930342, LOC129930343, LOC129930344, LOC129930345, LOC129930346, LOC129930347, LOC129930348, LOC129930349, LOC129930350, LOC129930351, LOC129930352, LOC129930353, LOC129930354, LOC129930355, LOC129930356, LOC129930357, LOC129930358, LOC129930359, LOC129930360, LOC129930361, LOC129930362, LOC129930363, LOC129930364, LOC129930365, LOC129930366, LOC129930367, LOC129930368, LOC129930369, LOC129930370, LOC129930371, LOC129930372, LOC129930373, LOC129930374, LOC129930375, LOC129930376, LOC129930377, LOC129930378, LOC129930379, LOC129930380, LOC129930381, LOC129930382, LOC129930383, LOC129930384, LOC129930385, LOC129930386, LOC129930387, LOC129930388, LOC129930389, LOC129930390, LOC129930391, LOC129930392, LOC129930393, LOC129930394, LOC129930395, LOC129930396, LOC129930397, LOC129930398, LOC129930399, LOC129930400, LOC129930401, LOC129930402, LOC129930403, LOC129930404, LOC129930405, LOC129930406, LOC129930407, LOC129930408, LOC129930409, LOC129930410, LOC132088718, LOC132088719, LOC132088721, LOC132088722, LOC339539, MED8, MIR30C1, MIR30E, MIR6079, MIR6733, MIR6734, MIR6735, MPL, NFYC, P3H1, PPCS, PPIH, PTPRF, RIMKLA, RNF220, SCMH1, SCMH1-DT, SLC2A1, SLC2A1-DT, SLC6A9, SLFNL1, SLFNL1-AS1, SNORA110, ST3GAL3, ST3GAL3-AS1, SVBP, SZT2, SZT2-AS1, TIE1, TMEM125, TMEM269, TMEM269-DT, YBX1, ZMYND12, ZNF691, ZNF691-DT | | See cases | Pathogenic (Aug 12, 2011) | criteria provided, single submitter |
| - GRCh37:
- Chr1:43829640
- GRCh38:
- Chr1:43363969
| ELOVL1 | R236C, R182C, R263C | not provided | Likely benign (May 24, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:43829703
- GRCh38:
- Chr1:43364032
| ELOVL1 | I161V, I215V, I242V | not provided | Uncertain significance (Jun 1, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:43829758
- GRCh38:
- Chr1:43364087
| ELOVL1 | | not provided | Likely benign (Aug 30, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:43829779
- GRCh38:
- Chr1:43364108
| ELOVL1 | | not provided | Likely benign (Jun 15, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:43830115
- GRCh38:
- Chr1:43364444
| ELOVL1 | F166L, F139L, F85L | not provided | Uncertain significance (Sep 12, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:43830119
- GRCh38:
- Chr1:43364448
| ELOVL1 | S165F, S138F, S84F | not provided | Pathogenic (Oct 14, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr1:43830121
- GRCh38:
- Chr1:43364450
| ELOVL1 | | not provided | Likely benign (Jul 13, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:43830148-43830151
- GRCh38:
- Chr1:43364477-43364480
| ELOVL1 | | not provided | Likely benign (Jun 26, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:43830236
- GRCh38:
- Chr1:43364565
| ELOVL1 | W153S, W72S, W126S | Inborn genetic diseases | Uncertain significance (Dec 15, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:43830320
- GRCh38:
- Chr1:43364649
| ELOVL1, MIR6734 | | Ichthyotic keratoderma, spasticity, hypomyelination, and dysmorphic facial features | Pathogenic (Apr 20, 2022) | no assertion criteria provided |
| - GRCh37:
- Chr1:43830392
- GRCh38:
- Chr1:43364721
| ELOVL1 | | not provided | Likely benign (Sep 27, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr1:43830433
- GRCh38:
- Chr1:43364762
| ELOVL1 | | not provided | Likely benign (Sep 27, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:43830442
- GRCh38:
- Chr1:43364771
| ELOVL1 | | not provided | Benign (Sep 24, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:43830449
- GRCh38:
- Chr1:43364778
| ELOVL1 | W31S, W112S, W85S | not provided | Uncertain significance (Sep 16, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:43830458
- GRCh38:
- Chr1:43364787
| ELOVL1 | R109Q, R82Q, R28Q | not provided | Uncertain significance (Jul 17, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:43830459
- GRCh38:
- Chr1:43364788
| ELOVL1 | R82W, R109W, R28W | not provided | Uncertain significance (Jul 17, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:43830615
- GRCh38:
- Chr1:43364944
| ELOVL1 | S20N, S101N | not provided | Uncertain significance (Jun 14, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:43830673
- GRCh38:
- Chr1:43365002
| ELOVL1 | M1V, M82V | Inborn genetic diseases | Uncertain significance (Jul 27, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:43830685
- GRCh38:
- Chr1:43365014
| ELOVL1 | | not provided | Likely benign (Jul 27, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:43830892
- GRCh38:
- Chr1:43365221
| ELOVL1 | S68A | Inborn genetic diseases | Uncertain significance (Jan 26, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr1:43830928
- GRCh38:
- Chr1:43365257
| ELOVL1 | F56L | not provided | Uncertain significance (Jun 28, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:43830951
- GRCh38:
- Chr1:43365280
| ELOVL1 | R48H | not provided | Uncertain significance (Sep 27, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:43830952
- GRCh38:
- Chr1:43365281
| ELOVL1 | R48C | not provided | Uncertain significance (Oct 16, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:43830989
- GRCh38:
- Chr1:43365318
| ELOVL1 | | not provided | Benign/Likely benign (Jan 1, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:43831022
- GRCh38:
- Chr1:43365351
| ELOVL1 | | not provided | Likely benign (May 22, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:43831216
- GRCh38:
- Chr1:43365545
| ELOVL1 | | not provided | Likely benign (Oct 17, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:43831227
- GRCh38:
- Chr1:43365556
| ELOVL1 | | not provided | Likely benign (Jun 28, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:43831228
- GRCh38:
- Chr1:43365557
| ELOVL1 | | not provided | Benign (Oct 18, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:43831230
- GRCh38:
- Chr1:43365559
| ELOVL1 | | not provided | Uncertain significance (Jul 27, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:43831239
- GRCh38:
- Chr1:43365568
| ELOVL1 | | not provided | Likely benign (Sep 27, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:43831268
- GRCh38:
- Chr1:43365597
| ELOVL1 | V5M | not provided | Benign (Sep 6, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:33285582-47891811
| A3GALT2, ADPRS, AGO1, AGO3, AGO4, AK2, AKIRIN1, AKR1A1, ARMH1, ARTN, ATP6V0B, ATPAF1, AZIN2, B4GALT2, BEST4, BMP8A, BMP8B, BTBD19, C1orf109, C1orf122, C1orf210, C1orf216, C1orf50, C1orf94, CAP1, CCDC17, CCDC24, CCDC30, CDC20, CDCA8, CFAP57, CITED4, CLDN19, CLSPN, CMPK1, COL8A2, COL9A2, CSF3R, CSMD2, CTPS1, CYP4A11, CYP4A22, CYP4B1, CYP4X1, CYP4Z1, DLGAP3, DMAP1, DMBX1, DNALI1, DPH2, DYNLT4, EBNA1BP2, EDN2, EFCAB14, EIF2B3, ELOVL1, EPHA10, ERI3, ERMAP, EVA1B, EXO5, FAAH, FAM183A, FHL3, FNDC5, FOXE3, FOXJ3, FOXO6, GJA4, GJA9, GJB3, GJB4, GJB5, GNL2, GPBP1L1, GRIK3, GUCA2A, GUCA2B, HECTD3, HEYL, HIVEP3, HMGB4, HPCA, HPCAL4, HPDL, HYI, INPP5B, IPO13, IPP, KCNQ4, KDM4A, KIAA0319L, KIAA0754, KIF2C, KLF17, KNCN, LINC00853, LRRC41, LSM10, LURAP1, MACF1, MANEAL, MAP7D1, MAST2, MEAF6, MED8, MFSD2A, MIR30C1, MKNK1, MMACHC, MOB3C, MPL, MRPS15, MTF1, MUTYH, MYCBP, MYCL, NASP, NCDN, NDUFS5, NFYC, NSUN4, NT5C1A, OSCP1, OXCT2, P3H1, PABPC4, PABPC4-AS1, PDZK1IP1, PHC2, PIK3R3, PLK3, POMGNT1, POU3F1, PPCS, PPIE, PPIH, PPT1, PRDX1, PSMB2, PTCH2, PTPRF, RAD54L, RHBDL2, RIMKLA, RIMS3, RLF, RNF19B, RNF220, RPS8, RRAGC, RSPO1, S100PBP, SCMH1, SF3A3, SFPQ, SH3D21, SLC2A1, SLC6A9, SLFNL1, SMAP2, SMIM12, SNIP1, ST3GAL3, STIL, STK40, SVBP, SZT2, TAL1, TEKT2, TESK2, TEX38, TFAP2E, THRAP3, TIE1, TMCO2, TMEM125, TMEM35B, TMEM53, TMEM54, TMEM69, TOE1, TRAPPC3, TRIM62, TRIT1, TSPAN1, UQCRH, UROD, UTP11, YBX1, YRDC, ZC3H12A, ZFP69, ZFP69B, ZMPSTE24, ZMYM1, ZMYM4, ZMYM6, ZMYND12, ZNF362, ZNF684, ZNF691, ZSCAN20, ZSWIM5 | | not specified | Pathogenic (Mar 1, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:43392692-43870241
| C1orf210, CDC20, CFAP144, CFAP57, EBNA1BP2, ELOVL1, MED8, MPL, SLC2A1, SZT2, TIE1, TMEM125 | | not provided | Pathogenic (Jun 27, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:43336799-44713202
| ARTN, ATP6V0B, B4GALT2, C1orf210, CCDC24, CDC20, CFAP57, DMAP1, DPH2, EBNA1BP2, ELOVL1, ERI3, FAM183A, HYI, IPO13, KDM4A, KLF17, MED8, MPL, PTPRF, SLC2A1, SLC6A9, ST3GAL3, SZT2, TIE1, TMEM125 | | not provided | Pathogenic (Jan 8, 2018) | no assertion criteria provided |
| - GRCh37:
- Chr1:43787578-44221212
| CDC20, ELOVL1, HYI, KDM4A, MED8, MPL, PTPRF, ST3GAL3, SZT2, TIE1 | | not provided | Uncertain significance (Aug 30, 2017) | no assertion criteria provided |
| - GRCh37:
- Chr1:10333430-103467088
| ANGPTL7, C1orf127, C1orf141, CDKN2C, CSF3R, DNAI4, EPHA8, FOXD3, GPX7, GRHL3, GRIK3, IGSF21, IL12RB2, LAPTM5, MAD2L2, MUTYH, MYCBP, PADI2, POU3F1, PPCS, PPIE, RAP1GAP, RWDD3, SNHG3, SNIP1, SNORA73A, TAS1R2, TCEA3, TCEANC2, TRAPPC3, TRE-TTC3-1, TRG-CCC1-1, XKR8, ZRANB2-DT, ZYG11B, ZZZ3, ZSCAN20, ZBTB8A, ZBTB8B, ZBTB8OS, ZC3H12A, ZCCHC17, ZDHHC18, YBX1, YIPF1, YRDC, YTHDF2, ZSWIM5, TRIM62, TRIM63, TRIT1, TRMT13, TRNAU1AP, TRNP1, TRQ-CTG14-1, TTC22, TTC39A, TTC4, TTLL7, TUT4, TXLNA, TEX38, TEX46, TXNDC12, TYW3, UBE2U, TSPAN1, TSSK3, ZYG11A, YARS1, ZBTB17, ZBTB40, TEKT2, TINAGL1, TLCD4, TM2D1, SNX7, SPATA1, SRSF11, SSX2IP, SPATA21, SPATA6, TENT5B, TESK2, TFAP2E, TGFBR3, THEMIS2, THRAP3, TIE1, TMCO2, S100PBP, S1PR1, SAMD13, SESN2, SF3A3, SFN, SFPQ, SGIP1, SH2D5, SH3BGRL3, SH3D21, SH3GLB1, SASS6, SCMH1, SCP2, SDC3, TMCO4, TMED5, SNORD21, SNRNP40, SRSF4, SSBP3, ST3GAL3, RAVER2, RBBP4, RHCE, RHD, RIMKLA, RIMS3, PRAMEF17, PRAMEF1, PRAMEF13, PRAMEF15, PRDM2, RLF, RBMXL1, RNF11, RNF186, RCAN3, RCC1, PADI3, PADI4, PADI6, PAFAH2, PATJ, PAX7, PEX14, PHACTR4, PHC2, PIGK, PIGV, PALMD, PAQR7, PARS2, PGD, PGM1, RCC2, RHBDL2, PPIH, PPP1R8, PPT1, PRAMEF10, PRAMEF11, MYCL, MYOM3, NCDN, NDUFS5, NECAP2, NCMAP, NDC1, MIGA1, MIIP, MANEAL, MAP3K6, MAP7D1, MCOLN3, MDS2, NEGR1, NEGR1-IT1, NEXN, MYSM1, NASP, NBL1, NBPF1, NBPF3, PRAMEF12, LDLRAD1, LDLRAD2, LDLRAP1, LEPR, LHX8, LIN28A, LINC00853, LINC01783, LMO4, LEPROT, LOC101927434, MAGOH, MAN1C1, MARCKSL1, MASP2, MAST2, MATN1, MCOLN2, MEAF6, MECR, MED18, IL22RA1, IL23R, INPP5B, INSL5, KCNQ4, KDF1, IPP, IQCC, KANK4, KAZN, ITGB3BP, IPO13, JAK1, JUN, MED8, MFAP2, LCK, GTF2B, GUCA2A, GUCA2B, HCRTR1, HDAC1, HECTD3, HEYL, HFM1, HPDL, HS2ST1, HSPB7, HSPG2, FUBP1, GBP7, GCLM, FUCA1, FYB2, FAAH, FABP3, EPHX4, EPS15, EVA1B, EVI5, FAF1, GADD45A, GBP4, GBP5, GBP6, GALE, GBP1, DNAJB4, DNAJC16, DNTTIP2, DOCK7, DPH2, DNALI1, DPH5, DPYD, DR1, DRAXIN, DYNLT4, DYNLT5, DNAJC6, DNAJC8, DNASE2B, GBP2, GBP3, EPHB2, FAM110D, FAM131C, ERI3, CSMD2, CTBS, CTH, CTPS1, CYB5RL, CYP2J2, CYP4A11, CYP4A22, CYP4B1, CITED4, CLCA1, CLCA2, CELA3B, CENPS, CZIB, DAB1, DBT, DCDC2B, CTRC, CYP4X1, CYP4Z1, ERICH3, ERMAP, C1orf167, C1orf185, C1orf210, C1orf216, C1orf52, C1orf87, C1orf50, C1orf94, C8A, CELA2A, CELA2B, CELA3A, CENPS-CORT, CEP85, CFAP107, CFAP144, ANKRD13C, ANKRD13C-DT, ARHGAP29, ARHGEF10L, ARHGEF19, ATP13A2, AADACL3, AADACL4, ABCA4, ABCD3, ACADM, ATP5IF1, AUNIP, AZIN2, ATP6V0B, ATPAF1, CFAP57, CIMAP2, C1orf146, A3GALT2, ACOT11, ACTL8, ADGRB2, ADGRL2, ADGRL4, ADPRS, AGBL4, AGL, AGMAT, AGO1, AGO3, AGO4, AGTRAP, AHDC1, AIRIM, AK2, AK4, AK5, AKIRIN1, AKR1A1, AKR7A2, AKR7A3, AKR7L, ALDH4A1, ALG14, ALG6, ALPL, ANGPTL3, ARID1A, ARMH1, ARTN, ASAP3, ASB17, ATG4C, B4GALT2, BARHL2, BCAR3, BCL10, BEND5, BEST4, BMP8A, BMP8B, BRDT, BSDC1, BSND, BTBD19, BTBD8, BTF3L4, C1QA, C1QB, C1QC, C1orf122, C8B, CACHD1, CAMK2N1, CAP1, CAPZB, CASP9, CASZ1, CATSPER4, CC2D1B, CCDC17, CCDC18, CCDC24, CCDC28B, CCDC30, CCN1, CD164L2, CD52, CDA, CDC14A, CDC20, CDC42, CDC7, CDCA8, CDCP2, CLCA4, CLCN6, CLCNKA, CLCNKB, CLDN19, CLIC4, CLSPN, CMPK1, CNKSR1, CNN3, CNR2, COA7, COL11A1, COL16A1, COL24A1, COL8A2, COL9A2, CORT, CPLANE2, CPT2, CROCC, CRYBG2, CRYZ, DDAH1, DDI2, DDOST, DEPDC1, DFFA, DHCR24, DHDDS, DHRS3, DIO1, DIPK1A, DIRAS3, DISP3, DLGAP3, DMAP1, DMBX1, DMRTA2, DMRTB1, DNAI3, E2F2, EBNA1BP2, ECE1, ECHDC2, EDN2, EFCAB14, EFCAB7, EFHD2, EIF2B3, EIF3I, EIF4G3, ELAVL4, ELOA, ELOVL1, EMC1, EPB41, EPHA10, EPHA2, EXO5, EXOSC10, EXTL1, EXTL2, EYA3, F3, FAM151A, FAM167B, FAM229A, FAM43B, FAM76A, FBLIM1, FBXO2, FBXO42, FBXO44, FBXO6, FCN3, FGGY, FGR, FHAD1, FHL3, FNBP1L, FNDC5, FOXD2, FOXE3, FOXJ3, FOXO6, FPGT, FPGT-TNNI3K, FRRS1, GFI1, GIPC2, GJA4, GJA9, GJB3, GJB4, GJB5, GLIS1, GLMN, GMEB1, GNG12, GNG5, GNL2, GPATCH3, GPBP1L1, GPN2, GPR3, GPR88, HIVEP3, HMGB4, HMGCL, HMGN2, HNRNPCL1, HNRNPCL2, HNRNPR, HOOK1, HP1BP3, HPCA, HPCAL4, ID3, HTR1D, HTR6, HYI, IFFO2, IFI44, IFI44L, IFI6, IFNLR1, IFT25, KDM1A, KDM4A, KHDRBS1, KIAA0319L, KIAA0754, KIAA1522, KIAA2013, KIF17, KIF1B, KIF2C, KLF17, KLHDC7A, KNCN, KPNA6, KTI12, KYAT3, L1TD1, LACTBL1, LPAR3, LRP8, LRRC38, LRRC39, LRRC40, LRRC41, LRRC42, LRRC7, LRRC8B, LRRC8C, LRRC8D, LRRIQ3, LSM10, LURAP1, LUZP1, LYPLA2, MACF1, MACO1, MFN2, MFSD14A, MFSD2A, MICOS10, MICOS10-NBL1, MIER1, MIR101-1, MIR137, MIR30C1, MKNK1, MMACHC, MOB3C, MPL, MROH7, MRPL37, MRPS15, MRTO4, MSH4, MTF1, MTF2, MTFR1L, MTHFR, MTOR, MUL1, NFIA, NFYC, NIPAL3, NKAIN1, NPPA, NPPB, NR0B2, NRDC, NSUN4, NT5C1A, NUDC, ODF2L, OLFM3, OMA1, OPRD1, ORC1, OSBPL9, OSCP1, OTUD3, OXCT2, P3H1, PABPC4, PABPC4-AS1, PADI1, PCSK9, PDE4B, PDIK1L, PDPN, PDZK1IP1, PEF1, PIK3R3, PINK1, PITHD1, PKN2, PLA2G2A, PLA2G2C, PLA2G2D, PLA2G2E, PLA2G2F, PLA2G5, PLEKHM2, PLK3, PLOD1, PLPP3, PLPPR4, PNRC2, PODN, POMGNT1, PRAMEF18, PRAMEF19, PRAMEF2, PRAMEF20, PRAMEF22, PRAMEF4, PRAMEF5, PRAMEF6, PRAMEF7, PRAMEF8, PRAMEF9, PRDX1, PRKAA2, PRKACB, PRPF38A, PSMB2, PTAFR, PTBP2, PTCH2, PTGER3, PTGFR, PTP4A2, PTPRF, PTPRU, PUM1, RAB3B, RAB42, RABGGTB, RAD54L, RNF19B, RNF220, RNU1-4, ROR1, RPA2, RPAP2, RPE65, RPF1, RPL11, RPL5, RPS6KA1, RPS8, RRAGC, RSC1A1, RSPO1, RSRP1, RTCA, RUNX3, SDHB, SELENOF, SELENON, SERBP1, SERINC2, SHISAL2A, SLC1A7, SLC25A34, SLC2A1, SLC30A2, SLC30A7, SLC35A3, SLC35D1, SLC44A3, SLC44A5, SLC5A9, SLC66A1, SLC6A9, SLC9A1, SLFNL1, SMAP2, SMIM12, SMPDL3B, SPEN, SPOCD1, SRARP, SRM, SRRM1, SRSF10, ST6GALNAC3, ST6GALNAC5, STIL, STK40, STMN1, STPG1, STX12, SVBP, SYDE2, SYF2, SYNC, SYTL1, SZRD1, SZT2, TACSTD2, TAF12, TAL1, TARDBP, TMEM125, TMEM200B, TMEM222, TMEM234, TMEM35B, TMEM39B, TMEM50A, TMEM51, TMEM53, TMEM54, TMEM59, TMEM61, TMEM69, TMEM82, TNFRSF1B, TNFRSF8, TNNI3K, TOE1, TRABD2B, UBIAD1, UBR4, UBXN10, UBXN11, UQCRH, UROD, USP1, USP24, USP33, USP48, UTP11, VCAM1, VPS13D, VWA5B1, WASF2, WDTC1, WLS, WNT4, ZFP69, ZFP69B, ZFYVE9, ZMPSTE24, ZMYM1, ZMYM4, ZMYM6, ZMYND12, ZNF326, ZNF362, ZNF436, ZNF593, ZNF644, ZNF683, ZNF684, ZNF691, ZNHIT6, ZRANB2 | | Intellectual disability, mild, Global developmental delay | Uncertain significance (Apr 4, 2019) | no assertion criteria provided |
| - GRCh37:
- Chr1:82154-249218992
| ADSS2, SPSB1, TAF5L, TAFA3, TMEM222, TRIM63, USF1, YOD1, YRDC, ZBTB8B, ZBTB8OS, ZC3H11A, ZC3H12A, YTHDF2, YY1AP1, ZBED6, ZCCHC17, ZDHHC18, ZFP69B, UTP25, UTS2, USP24, USP33, USP48, ZFP69, ZBTB17, ZBTB8A, USH2A, UTP11, VAMP3, TRMT13, TRMT1L, TRQ-CTG14-1, TSACC, TSEN15, TSHB, TSNAX, USP1, USP21, TRIM67, TRIT1, TSPAN1, TSPAN2, TMEM59, TMEM61, TMEM63A, TMEM69, TMEM79, TMEM81, TMEM82, TMEM88B, TMEM240, TMEM35B, TMEM39B, TMEM50A, TSSK3, TRN-GTT2-7, TRNAU1AP, TRNP1, TMEM234, TBX19, TCEA3, TCEANC2, TCHH, TCHHL1, TDRD10, TDRD5, TDRKH, TARBP1, TMEM51, TMEM52, TMEM53, TMEM54, SSU72, SSX2IP, SRGAP2B, SRGAP2C, SRM, SRP9, SRSF10, SRSF11, SRSF4, SRARP, SRGAP2, SRRM1, SSBP3, SSR2, TAGLN2, TAL1, AGBL4, AGL, AK4, AK5, AKIRIN1, AKNAD1, AGRN, AGT, AGMAT, AGO1, AGO3, AGO4, AGTRAP, AHCTF1, AHCYL1, TBCE, TBX15, SPTA1, A3GALT2, AADACL3, AADACL4, ABCA4, ABCB10, ABCD3, ABL2, ACADM, ACAP3, ACBD3, ACBD6, ACKR1, ACOT11, ACOT7, ACP6, ACTA1, ACTL8, ACTN2, ACTRT2, ADAM15, ADAM30, ADAMTS4, ADAMTSL4, ADAR, ADCY10, ADGRB2, ADGRL2, ADGRL4, ADIPOR1, ADORA1, ADORA3, ADPRS, AHDC1, AIDA, AIM2, AIRIM, AJAP1, AK2, AKR1A1, AKR7A2, AKR7A3, AKR7L, AKT3, ALDH4A1, ALDH9A1, SNRNP40, SNRPE, SNX27, SNX7, SOAT1, SORT1, SOX13, SPAG17, SPATA1, SPATA17, SPATA21, SPATA45, SPATA46, SPATA6, SPEN, SPHAR, SPMIP3, SPOCD1, SPRR1A, SPRR1B, SPRR2A, SPRR2B, SPRR2D, SPRR2E, SPRR2F, SPRR2G, SPRR3, SPRR4, SPRTN, ST3GAL3, ST6GALNAC3, ST6GALNAC5, ST7L, STIL, STK40, STMN1, STPG1, STRIP1, STUM, STX12, STX6, STXBP3, STYXL2, SUCO, SUSD4, SV2A, SVBP, SWT1, SYCP1, SYDE2, SYF2, SYNC, SYPL2, SYT11, SYT14, SYT2, SYT6, SYTL1, SZRD1, SZT2, TACSTD2, TADA1, TAF12, TAF13, TAF1A, TARDBP, TARS2, TAS1R1, TAS1R2, TAS1R3, TATDN3, TEDDM1, TEKT2, TENT5B, TENT5C, TENT5C-DT, TESK2, TEX35, TEX38, TEX46, TFAP2E, TFB2M, TGFB2, TGFBR3, THAP3, THBS3, THEM4, THEM5, THEMIS2, THRAP3, TIE1, TIMM17A, TINAGL1, TIPRL, TLCD4, TLR5, TM2D1, TMCC2, TMCO1, TMCO2, TMCO4, TMED5, TMEM125, TMEM167B, TMEM183A, TMEM200B, TMEM201, TMEM9, TMOD4, TNFAIP8L2, TNFRSF14, TNFRSF18, TNFRSF1B, TNFRSF25, TNFRSF4, TNFRSF8, TNFRSF9, TNFSF18, TNFSF4, TNN, TNNI1, TNNI3K, TNNT2, TNR, TOE1, TOMM20, TOMM40L, TOR1AIP1, TOR1AIP2, TOR3A, TP53BP2, TP73, TPM3, TPR, TPRG1L, TRABD2B, TRAF3IP3, TRAF5, TRAPPC3, TRE-TTC3-1, TRG-CCC1-1, TRH-GTG2-1, TRIM11, TRIM17, TRIM33, TRIM45, TRIM46, TRIM58, TRIM62, TSTD1, TTC13, TTC22, TTC24, TTC34, TTC39A, TTC4, TTF2, TTLL10, TTLL7, TUFT1, TUT4, TXLNA, TXNDC12, TXNIP, TYW3, UAP1, UBAP2L, UBE2J2, UBE2Q1, UBE2T, UBE2U, UBE4B, UBIAD1, UBL4B, UBQLN4, UBR4, UBXN10, UBXN11, UCHL5, UCK2, UFC1, UHMK1, UQCRH, URB2, UROD, VAMP4, VANGL1, VANGL2, VASH2, VAV3, VCAM1, VHLL, VN1R5, VPS13D, VPS45, VPS72, VSIG8, VTCN1, VWA1, VWA5B1, WARS2, WASF2, WDR26, WDR3, WDR47, WDR64, WDR77, WDTC1, WLS, WNT2B, WNT3A, WNT4, WNT9A, WRAP73, XCL1, XCL2, XKR8, XPR1, YARS1, YBX1, YIPF1, ZBTB18, ZBTB37, ZBTB40, ZBTB41, ZBTB48, ZBTB7B, ZFYVE9, ZMPSTE24, ZMYM1, ZMYM4, ZMYM6, ZMYND12, ZNF124, ZNF281, ZNF326, ZNF362, ZNF436, ZNF496, ZNF593, ZNF644, ZNF648, ZNF669, ZNF670, ZNF672, ZNF678, ZNF683, ZNF684, ZNF687, ZNF691, ZNF692, ZNF695, ZNF697, ZNHIT6, ZP4, ZRANB2, ZRANB2-DT, ZSCAN20, ZSWIM5, ZYG11A, ZYG11B, ZZZ3, ALG14, ALG6, ALPL, ALX3, AMIGO1, AMPD1, AMPD2, AMY1A, AMY1B, AMY1C, AMY2A, AMY2B, ANGEL2, ANGPTL1, ANGPTL3, ANGPTL7, ANKRD13C, ANKRD13C-DT, ANKRD34A, ANKRD35, ANKRD45, ANKRD65, ANP32E, ANXA9, AP4B1, APCS, APH1A, APOA2, APOBEC4, AQP10, ARF1, ARHGAP29, ARHGAP30, ARHGEF10L, ARHGEF11, ARHGEF16, ARHGEF19, ARHGEF2, ARID1A, ARID4B, ARL8A, ARMH1, ARNT, ARPC5, ARTN, ARV1, ASAP3, ASB17, ASCL5, ASH1L, ASPM, ASTN1, ATAD3A, ATAD3B, ATAD3C, ATF3, ATF6, ATG4C, ATP13A2, ATP1A1, ATP1A2, ATP1A4, ATP1B1, ATP2B4, ATP5IF1, ATP5PB, ATP6V0B, ATP6V1G3, ATP8B2, ATPAF1, ATXN7L2, AUNIP, AURKAIP1, AVPR1B, AXDND1, AZIN2, B3GALNT2, B3GALT2, B3GALT6, B4GALT2, B4GALT3, BARHL2, BATF3, BCAN, BCAR3, BCAS2, BCL10, BCL2L15, BCL9, BEND5, BEST4, BGLAP, BLZF1, BMP8A, BMP8B, BNIPL, BOLA1, BPNT1, BRDT, BRINP2, BRINP3, BROX, BSDC1, BSND, BTBD19, BTBD8, BTF3L4, BTG2, BTNL10, C1QA, C1QB, C1QC, C1QTNF12, C1orf105, C1orf115, C1orf116, C1orf122, C1orf127, C1orf131, C1orf141, C1orf146, C1orf159, C1orf162, C1orf167, C1orf174, C1orf185, C1orf198, C1orf21, C1orf210, C1orf216, C1orf226, C1orf35, C1orf43, C1orf50, C1orf52, C1orf53, C1orf54, C1orf56, C1orf74, C1orf87, C1orf94, C2CD4D, C4BPA, C4BPB, C8A, C8B, CA14, CA6, CACHD1, CACNA1E, CACNA1S, CACYBP, CADM3, CALML6, CAMK1G, CAMK2N1, CAMSAP2, CAMTA1, CAP1, CAPN2, CAPN8, CAPN9, CAPZA1, CAPZB, CASP9, CASQ1, CASQ2, CASZ1, CATSPER4, CATSPERE, CC2D1B, CCDC17, CCDC18, CCDC181, CCDC185, CCDC190, CCDC24, CCDC27, CCDC28B, CCDC30, CCN1, CCNL2, CCSAP, CCT3, CD101, CD160, CD164L2, CD1A, CD1B, CD1C, CD1D, CD1E, CD2, CD244, CD247, CD34, CD46, CD48, CD52, CD53, CD55, CD58, CD5L, CD84, CDA, CDC14A, CDC20, CDC42, CDC42BPA, CDC42SE1, CDC7, CDC73, CDCA8, CDCP2, CDK11A, CDK11B, CDK18, CDKN2C, CELA2A, CELA2B, CELA3A, CELA3B, CELF3, CELSR2, CENPF, CENPL, CENPS, CENPS-CORT, CEP104, CEP170, CEP350, CEP85, CEPT1, CERS2, CFAP107, CFAP126, CFAP141, CFAP144, CFAP276, CFAP45, CFAP57, CFAP74, CFH, CFHR1, CFHR2, CFHR3, CFHR4, CFHR5, CGN, CHD1L, CHD5, CHI3L1, CHI3L2, CHIA, CHIT1, CHML, CHRM3, CHRNB2, CHTOP, CIART, CIMAP2, CIMAP3, CITED4, CKS1B, CLCA1, CLCA2, CLCA4, CLCC1, CLCN6, CLCNKA, CLCNKB, CLDN19, CLIC4, CLK2, CLSPN, CLSTN1, CMPK1, CNIH3, CNIH4, CNKSR1, CNN3, CNR2, CNST, CNTN2, COA6, COA7, COG2, COL11A1, COL16A1, COL24A1, COL8A2, COL9A2, COLGALT2, COP1, COPA, COQ8A, CORT, COX20, CPLANE2, CPT2, CPTP, CR1, CR1L, CR2, CRABP2, CRB1, CRCT1, CREB3L4, CREG1, CRNN, CROCC, CRP, CRTC2, CRYBG2, CRYZ, CSDE1, CSF1, CSF3R, CSMD2, CSRP1, CTBS, CTH, CTNNBIP1, CTPS1, CTRC, CTSE, CTSK, CTSS, CTTNBP2NL, CYB561D1, CYB5R1, CYB5RL, CYP2J2, CYP4A11, CYP4A22, CYP4B1, CYP4X1, CYP4Z1, CZIB, DAB1, DAP3, DARS2, DBT, DCAF6, DCAF8, DCAF8-DT, DCDC2B, DCLRE1B, DCST1, DCST2, DDAH1, DDI2, DDOST, DDR2, DDX20, DDX59, DEDD, DEGS1, DENND1B, DENND2C, DENND2D, DENND4B, DEPDC1, DESI2, DFFA, DFFB, DHCR24, DHDDS, DHRS3, DHX9, DIO1, DIPK1A, DIRAS3, DISC1, DISC2, DISP1, DISP3, DLGAP3, DMAP1, DMBX1, DMRTA2, DMRTB1, DNAH14, DNAI3, DNAI4, DNAJB4, DNAJC11, DNAJC16, DNAJC6, DNAJC8, DNALI1, DNASE2B, DNM3, DNM3OS, DNTTIP2, DOCK7, DPH2, DPH5, DPM3, DPT, DPYD, DR1, DRAM2, DRAXIN, DSTYK, DTL, DUSP10, DUSP12, DUSP23, DVL1, DYNLT4, DYNLT5, DYRK3, E2F2, EBNA1BP2, ECE1, ECHDC2, ECM1, EDARADD, EDEM3, EDN2, EEIG2, EFCAB14, EFCAB2, EFCAB7, EFHD2, EFNA1, EFNA3, EFNA4, EGLN1, EIF2B3, EIF2D, EIF3I, EIF4G3, ELAPOR1, ELAVL4, ELF3, ELK4, ELOA, ELOVL1, EMC1, ENAH, ENO1, ENO1-AS1, ENSA, ENTREP3, EPB41, EPHA10, EPHA2, EPHA8, EPHB2, EPHX1, EPHX4, EPRS1, EPS15, EPS8L3, ERI3, ERICH3, ERMAP, ERO1B, ERRFI1, ESPN, ESRRG, ETNK2, ETV3, ETV3L, EVA1B, EVI5, EXO1, EXO5, EXOC8, EXOSC10, EXTL1, EXTL2, EYA3, F11R, F13B, F3, F5, FAAH, FAAP20, FABP3, FAF1, FALEC, FAM110D, FAM131C, FAM151A, FAM163A, FAM167B, FAM177B, FAM20B, FAM229A, FAM43B, FAM72A, FAM72B, FAM72C, FAM72D, FAM76A, FAM78B, FAM89A, FASLG, FBLIM1, FBXO2, FBXO28, FBXO42, FBXO44, FBXO6, FCAMR, FCER1A, FCER1G, FCGR1A, FCGR2A, FCGR2B, FCGR2C, FCGR3A, FCGR3B, FCMR, FCN3, FCRL1, FCRL2, FCRL3, FCRL4, FCRL5, FCRL6, FCRLA, FCRLB, FDPS, FGGY, FGR, FH, FHAD1, FHL3, FIRRM, FLAD1, FLG, FLG2, FLVCR1, FLVCR1-DT, FMN2, FMO1, FMO2, FMO3, FMO4, FMO5, FMOD, FNBP1L, FNDC10, FNDC5, FNDC7, FOXD2, FOXD3, FOXE3, FOXJ3, FOXO6, FPGT, FPGT-TNNI3K, FRRS1, FUBP1, FUCA1, FYB2, G0S2, GABPB2, GABRD, GADD45A, GALE, GALNT2, GARIN4, GAS5, GATAD2B, GBA1, GBP1, GBP2, GBP3, GBP4, GBP5, GBP6, GBP7, GCLM, GCSAML, GDAP2, GFI1, GGPS1, GIPC2, GJA4, GJA5, GJA8, GJA9, GJB3, GJB4, GJB5, GJC2, GLIS1, GLMN, GLMP, GLRX2, GLUL, GMEB1, GNAI3, GNAT2, GNB1, GNG12, GNG4, GNG5, GNL2, GNPAT, GOLPH3L, GOLT1A, GON4L, GORAB, GPA33, GPATCH2, GPATCH3, GPATCH4, GPBP1L1, GPN2, GPR137B, GPR153, GPR157, GPR161, GPR25, GPR3, GPR37L1, GPR52, GPR61, GPR88, GPR89A, GPR89B, GPSM2, GPX7, GREM2, GRHL3, GRIK3, GSTM1, GSTM2, GSTM3, GSTM4, GSTM5, GTF2B, GUCA2A, GUCA2B, GUK1, H2AC18, H2AC19, H2AC20, H2AC21, H2AC25, H2BC18, H2BC21, H2BC26, H3-3A, H3-4, H3C13, H3C14, H3C15, H4C14, H4C15, H6PD, HAO2, HAPLN2, HAX1, HCN3, HCRTR1, HDAC1, HDGF, HEATR1, HECTD3, HENMT1, HES2, HES3, HES4, HES5, HEYL, HFM1, HHAT, HHIPL2, HIPK1, HIVEP3, HJV, HLX, HMCN1, HMGB4, HMGCL, HMGCS2, HMGN2, HNRNPCL1, HNRNPCL2, HNRNPR, HNRNPU, HOOK1, HORMAD1, HP1BP3, HPCA, HPCAL4, HPDL, HRNR, HS2ST1, HSD11B1, HSD17B7, HSD3B1, HSD3B2, HSPA6, HSPB7, HSPG2, HTR1D, HTR6, HYI, IARS2, IBA57, ICMT, ID3, IER5, IFFO2, IFI16, IFI44, IFI44L, IFI6, IFNLR1, IFT25, IGFN1, IGSF21, IGSF3, IGSF8, IGSF9, IKBKE, IKBKE-AS1, IL10, IL12RB2, IL19, IL20, IL22RA1, IL23R, IL24, IL6R, ILDR2, ILF2, INAVA, INKA2, INPP5B, INSL5, INSRR, INTS11, INTS3, INTS7, IPO13, IPO9, IPP, IQCC, IQGAP3, IRF2BP2, IRF6, ISG15, ISG20L2, ITGA10, ITGB3BP, ITLN1, ITLN2, ITPKB, IVL, IVNS1ABP, JAK1, JMJD4, JTB, JUN, KANK4, KAZN, KCNA10, KCNA2, KCNA3, KCNAB2, KCNC4, KCND3, KCNH1, KCNJ10, KCNJ9, KCNK1, KCNK2, KCNN3, KCNQ4, KCNT2, KCTD3, KDF1, KDM1A, KDM4A, KDM5B, KHDC4, KHDRBS1, KIAA0040, KIAA0319L, KIAA0754, KIAA1614, KIAA2013, KIF14, KIF17, KIF1B, KIF21B, KIF26B, KIF2C, KIFAP3, KIRREL1, KIRREL1-IT1, KISS1, KLF17, KLHDC7A, KLHDC8A, KLHDC9, KLHL12, KLHL17, KLHL20, KLHL21, KMO, KNCN, KPLCE, KPNA6, KPRP, KRTCAP2, KTI12, KYAT3, L1TD1, LACTBL1, LAD1, LAMB3, LAMC1, LAMC2, LAMTOR2, LAMTOR5, LAPTM5, LAX1, LBR, LCE1A, LCE1B, LCE1C, LCE1D, LCE1E, LCE1F, LCE2A, LCE2B, LCE2C, LCE2D, LCE3A, LCE3B, LCE3C, LCE3D, LCE3E, LCE4A, LCE5A, LCE6A, LCK, LDLRAD1, LDLRAD2, LDLRAP1, LEFTY1, LEFTY2, LELP1, LEMD1, LENEP, LEPR, LEPROT, LGALS8, LGR6, LHX4, LHX8, LHX9, LIN28A, LIN9, LINC00538, LINC00853, LINC01649, LINC01783, LINC02897, LINGO4, LIX1L, LMNA, LMO4, LMOD1, LMX1A, LNCATV, LOC101927434, LOC101928034, LORICRIN, LPAR3, LPGAT1, LRIF1, LRIG2, LRP8, LRRC38, LRRC39, LRRC40, LRRC41, LRRC42, LRRC47, LRRC52, LRRC7, LRRC71, LRRC8B, LRRC8C, LRRC8D, LRRIQ3, LRRN2, LSM10, LURAP1, LUZP1, LY9, LYPD8, LYPLA2, LYPLAL1, LYSMD1, LYST, LZIC, MAB21L3, MACF1, MACO1, MAD2L2, MAEL, MAGI3, MAGOH, MAN1A2, MAN1C1, MANEAL, MAP10, MAP1LC3C, MAP3K21, MAP3K6, MAP7D1, MAPKAPK2, MARCKSL1, MARK1, MASP2, MAST2, MATN1, MCL1, MCOLN2, MCOLN3, MDM4, MDS2, MEAF6, MECR, MED18, MED8, MEF2D, MEGF6, METTL13, METTL18, METTL25B, MEX3A, MFAP2, MFN2, MFSD14A, MFSD2A, MFSD4A, MGST3, MIA3, MIB2, MICOS10, MICOS10-NBL1, MIER1, MIGA1, MIIP, MINDY1, MIR101-1, MIR137, MIR181A1, MIR181B1, MIR194-1, MIR197, MIR199A2, MIR200A, MIR200B, MIR205, MIR205HG, MIR214, MIR215, MIR29B2CHG, MIR29C, MIR30C1, MIR3120, MIR34A, MIR429, MIR551A, MIR9-1, MIR9-1HG, MIXL1, MKNK1, MLLT11, MMACHC, MMEL1, MMP23B, MNDA, MOB3C, MORN1, MOV10, MPC2, MPL, MPZ, MPZL1, MR1, MROH7, MROH9, MRPL20, MRPL24, MRPL37, MRPL55, MRPL9, MRPS14, MRPS15, MRPS21, MRTO4, MSH4, MSTO1, MT1HL1, MTARC1, MTARC2, MTF1, MTF2, MTFR1L, MTHFR, MTMR11, MTOR, MTR, MTX1, MUC1, MUL1, MUTYH, MXRA8, MYBPH, MYBPHL, MYCBP, MYCL, MYOC, MYOG, MYOM3, MYSM1, NADK, NASP, NAV1, NAXE, NBL1, NBPF1, NBPF10, NBPF11, NBPF12, NBPF15, NBPF3, NBPF4, NBPF6, NBPF8, NBPF9, NCDN, NCF2, NCMAP, NCSTN, NDC1, NDUFS2, NDUFS5, NECAP2, NECTIN4, NEGR1, NEGR1-IT1, NEK2, NEK7, NENF, NES, NEXN, NFASC, NFIA, NFYC, NGF, NHLH1, NHLH2, NHSL3, NIBAN1, NID1, NIPAL3, NIT1, NKAIN1, NLRP3, NME7, NMNAT1, NMNAT2, NOC2L, NOL9, NOS1AP, NOTCH2, NOTCH2NLA, NPHP4, NPHS2, NPL, NPPA, NPPB, NPR1, NR0B2, NR1I3, NR5A2, NRAS, NRDC, NSL1, NSUN4, NT5C1A, NTMT2, NTNG1, NTPCR, NTRK1, NUAK2, NUCKS1, NUDC, NUDT17, NUF2, NUP133, NUP210L, NVL, OAZ3, OBSCN, OCLM, ODF2L, ODR4, OLFM3, OLFML2B, OLFML3, OMA1, OPN3, OPRD1, OPTC, OR10J1, OR10J3, OR10J5, OR10K1, OR10K2, OR10R2, OR10T2, OR10X1, OR10Z1, OR11L1, OR13G1, OR14A16, OR14C36, OR14I1, OR1C1, OR2AK2, OR2B11, OR2C3, OR2G2, OR2G3, OR2G6, OR2L13, OR2L2, OR2L3, OR2L5, OR2L8, OR2M2, OR2M3, OR2M4, OR2M5, OR2M7, OR2T1, OR2T10, OR2T11, OR2T12, OR2T2, OR2T27, OR2T29, OR2T3, OR2T33, OR2T34, OR2T35, OR2T4, OR2T5, OR2T6, OR2T8, OR2W3, OR4F16, OR4F29, OR6F1, OR6K2, OR6K3, OR6K6, OR6N1, OR6N2, OR6P1, OR6Y1, ORC1, OSBPL9, OSCP1, OTUD3, OTUD7B, OVGP1, OXCT2, P3H1, PABPC4, PABPC4-AS1, PACC1, PADI1, PADI2, PADI3, PADI4, PADI6, PAFAH2, PALMD, PANK4, PAPPA2, PAQR6, PAQR7, PARK7, PARP1, PARS2, PATJ, PAX7, PBX1, PBXIP1, PCAT6, PCNX2, PCP4L1, PCSK9, PDC, PDE4B, PDE4DIP, PDIK1L, PDPN, PDZK1, PDZK1IP1, PEA15, PEAR1, PEF1, PER3, PEX10, PEX11B, PEX14, PEX19, PFDN2, PFKFB2, PGBD2, PGBD5, PGD, PGLYRP3, PGLYRP4, PGM1, PHACTR4, PHC2, PHF13, PHGDH, PHLDA3, PHTF1, PI4KB, PIAS3, PIGC, PIGK, PIGM, PIGR, PIGV, PIK3C2B, PIK3CD, PIK3R3, PINK1, PIP5K1A, PITHD1, PKLR, PKN2, PKP1, PLA2G2A, PLA2G2C, PLA2G2D, PLA2G2E, PLA2G2F, PLA2G4A, PLA2G5, PLCH2, PLD5, PLEKHA6, PLEKHG5, PLEKHM2, PLEKHN1, PLEKHO1, PLK3, PLOD1, PLPP3, PLPPR4, PLXNA2, PM20D1, PMF1, PMF1-BGLAP, PMVK, PNRC2, PODN, POGK, POGZ, POLR3C, POLR3GL, POMGNT1, POU2F1, POU3F1, PPCS, PPFIA4, PPIAL4A, PPIAL4C, PPIAL4D, PPIAL4E, PPIAL4F, PPIAL4G, PPIE, PPIH, PPM1J, PPOX, PPP1R12B, PPP1R15B, PPP1R8, PPP2R5A, PPT1, PRAMEF1, PRAMEF10, PRAMEF11, PRAMEF12, PRAMEF13, PRAMEF15, PRAMEF17, PRAMEF18, PRAMEF19, PRAMEF2, PRAMEF20, PRAMEF22, PRAMEF4, PRAMEF5, PRAMEF6, PRAMEF7, PRAMEF8, PRAMEF9, PRCC, PRDM16, PRDM2, PRDX1, PRDX6, PRELP, PRG4, PRKAA2, PRKAB2, PRKACB, PRKCZ, PRMT6, PROK1, PROX1, PRPF3, PRPF38A, PRPF38B, PRR9, PRRC2C, PRRX1, PRSS38, PRUNE1, PRXL2B, PSEN2, PSMA5, PSMB2, PSMB4, PSMD4, PSRC1, PTAFR, PTBP2, PTCH2, PTGER3, PTGFR, PTGFRN, PTGS2, PTP4A2, PTPN14, PTPN22, PTPN7, PTPRC, PTPRF, PTPRU, PUM1, PUSL1, PYCR2, PYGO2, PYHIN1, QSOX1, RAB13, RAB25, RAB29, RAB3B, RAB3GAP2, RAB42, RAB4A, RABGAP1L, RABGGTB, RABIF, RAD54L, RALGPS2, RAP1A, RAP1GAP, RASAL2, RASSF5, RAVER2, RBBP4, RBBP5, RBM15, RBM34, RBM8A, RBMXL1, RBP7, RC3H1, RCAN3, RCC1, RCC2, RCOR3, RCSD1, RD3, REG4, REN, RER1, RERE, RFX5, RGL1, RGS1, RGS13, RGS16, RGS18, RGS2, RGS21, RGS4, RGS5, RGS7, RGS8, RGSL1, RHBDL2, RHBG, RHCE, RHD, RHEX, RHOC, RHOU, RIIAD1, RIMKLA, RIMS3, RIT1, RLF, RNASEL, RNF11, RNF115, RNF186, RNF187, RNF19B, RNF2, RNF207, RNF220, RNF223, RNPC3, RNPEP, RNU1-4, RO60, ROR1, RORC, RPA2, RPAP2, RPE65, RPF1, RPL11, RPL22, RPL5, RPRD2, RPS27, RPS6KA1, RPS6KC1, RPS8, RPTN, RRAGC, RRP15, RSBN1, RSC1A1, RSPO1, RSRP1, RTCA, RUNX3, RUSC1, RUSC1-AS1, RWDD3, RXFP4, RXRG, RYR2, S100A1, S100A10, S100A11, S100A12, S100A13, S100A14, S100A16, S100A2, S100A3, S100A4, S100A5, S100A6, S100A7, S100A7A, S100A8, S100A9, S100PBP, S1PR1, SAMD11, SAMD13, SARS1, SASS6, SCAMP3, SCCPDH, SCMH1, SCNM1, SCNN1D, SCP2, SCYL3, SDC3, SDCCAG8, SDE2, SDF4, SDHB, SDHC, SEC16B, SELE, SELENBP1, SELENOF, SELENON, SELL, SELP, SEMA4A, SEMA6C, SERBP1, SERINC2, SERPINC1, SERTAD4, SESN2, SETDB1, SF3A3, SF3B4, SFN, SFPQ, SFT2D2, SGIP1, SH2D1B, SH2D2A, SH2D5, SH3BGRL3, SH3BP5L, SH3D21, SH3GLB1, SHC1, SHCBP1L, SHE, SHISA4, SHISAL2A, SIKE1, SIPA1L2, SKI, SLAMF1, SLAMF6, SLAMF7, SLAMF8, SLAMF9, SLC16A1, SLC16A4, SLC19A2, SLC1A7, SLC22A15, SLC25A24, SLC25A33, SLC25A34, SLC25A44, SLC26A9, SLC27A3, SLC2A1, SLC2A5, SLC2A7, SLC30A1, SLC30A10, SLC30A2, SLC30A7, SLC35A3, SLC35D1, SLC35E2A, SLC35E2B, SLC35F3, SLC39A1, SLC41A1, SLC44A3, SLC44A5, SLC45A1, SLC45A3, SLC50A1, SLC5A9, SLC66A1, SLC6A17, SLC6A9, SLC9A1, SLC9C2, SLFNL1, SMAP2, SMCP, SMG5, SMG7, SMIM1, SMIM12, SMPDL3B, SMYD2, SMYD3, SNAP47, SNAPIN, SNHG28, SNHG3, SNIP1, SNORA73A, SNORD21 | | not provided | Pathogenic (Jan 5, 2017) | no assertion criteria provided |
| - GRCh37:
- Chr1:47851-249228449
| SLC16A1, SLC16A4, SNRNP40, STX6, STXBP3, TEX35, TEX38, TNFRSF8, TNFRSF9, TNFSF18, TYW3, WLS, ZNF670, ZNF672, AGBL4, AGL, AGMAT, APCS, ZNF678, ZNF683, ZNF697, ZNHIT6, ZP4, ZRANB2, ZRANB2-DT, ZSCAN20, ZNF684, ZNF695, ZNF687, ZNF691, ZNF692, WNT2B, YIPF1, YOD1, XCL2, XKR8, XPR1, WNT3A, WNT4, WNT9A, UBAP2L, UBE2Q1, UBE2T, WRAP73, XCL1, UAP1, UBE2U, UBE4B, UBIAD1, UBL4B, UBE2J2, UBQLN4, UBR4, UBXN10, TNNI3K, TRE-TTC3-1, TNFSF4, TNN, TNNI1, TOR1AIP2, TOR3A, TP53BP2, YARS1, YBX1, TRAF5, TRAPPC3, TRG-CCC1-1, TRH-GTG2-1, TINAGL1, TIPRL, TLCD4, TLR5, THEMIS2, THRAP3, TIE1, TIMM17A, TGFB2, TGFBR3, THAP3, TRIM11, TRIM17, TEX46, TFAP2E, TFB2M, THBS3, THEM4, SVBP, SWT1, SYCP1, SYDE2, SYF2, SYNC, SYPL2, SUCO, SUSD4, THEM5, STYXL2, SV2A, SORT1, SPATA1, SPATA17, SPATA21, SNX7, SOAT1, SOX13, SPAG17, SYT11, SYT14, SYT2, SNRPE, SNX27, SPATA45, SPATA46, SLC1A7, SLC25A24, SLC26A9, SLC22A15, SLC25A33, SPATA6, SLC19A2, SLC25A34, SLC25A44, SASS6, SCAMP3, S100A8, S100A9, S100PBP, S100A5, S100A6, S100A7, S100A7A, S1PR1, SAMD11, SAMD13, SLC27A3, S100A4, SARS1, S100A3, SCCPDH, SCMH1, SCNM1, SCNN1D, SCP2, SCYL3, SDC3, SDCCAG8, SDE2, SDF4, SDHB, SDHC, SEC16B, SELE, SELENBP1, SELENOF, SELENON, SELL, SELP, SEMA4A, SEMA6C, SERBP1, SERINC2, SERPINC1, SERTAD4, SESN2, SETDB1, SF3A3, SF3B4, SFN, SFPQ, SFT2D2, SGIP1, SH2D1B, SH2D2A, SH2D5, SH3BGRL3, SH3BP5L, SH3D21, SH3GLB1, SHC1, SHCBP1L, SHE, SHISA4, SHISAL2A, SIKE1, SIPA1L2, SKI, SLAMF1, SLAMF6, SLAMF7, SLAMF8, SLAMF9, SLC2A1, SLC2A5, SLC2A7, SLC30A1, SLC30A10, SLC30A2, SLC30A7, SLC35A3, SLC35D1, SLC35E2A, SLC35E2B, SLC35F3, SLC39A1, SLC41A1, SLC44A3, SLC44A5, SLC45A1, SLC45A3, SLC50A1, SLC5A9, SLC66A1, SLC6A17, SLC6A9, SLC9A1, SLC9C2, SLFNL1, SMAP2, SMCP, SMG5, SMG7, SMIM1, SMIM12, SMPDL3B, SMYD2, SMYD3, SNAP47, SNAPIN, SNHG28, SNHG3, SNIP1, SNORA73A, SNORD21, SPEN, SPHAR, SPMIP3, SPOCD1, SPRR1A, SPRR1B, SPRR2A, SPRR2B, SPRR2D, SPRR2E, SPRR2F, SPRR2G, SPRR3, SPRR4, SPRTN, SPSB1, SPTA1, SRARP, SRGAP2, SRGAP2B, SRGAP2C, SRM, SRP9, SRRM1, SRSF10, SRSF11, SRSF4, SSBP3, SSR2, SSU72, SSX2IP, ST3GAL3, ST6GALNAC3, ST6GALNAC5, ST7L, STIL, STK40, STMN1, STPG1, STRIP1, STUM, STX12, SYT6, SYTL1, SZRD1, SZT2, TACSTD2, TADA1, TAF12, TAF13, TAF1A, TAF5L, TAFA3, TAGLN2, TAL1, TARBP1, TARDBP, TARS2, TAS1R1, TAS1R2, TAS1R3, TATDN3, TBCE, TBX15, TBX19, TCEA3, TCEANC2, TCHH, TCHHL1, TDRD10, TDRD5, TDRKH, TEDDM1, TEKT2, TENT5B, TENT5C, TENT5C-DT, TESK2, TM2D1, TMCC2, TMCO1, TMCO2, TMCO4, TMED5, TMEM125, TMEM167B, TMEM183A, TMEM200B, TMEM201, TMEM222, TMEM234, TMEM240, TMEM35B, TMEM39B, TMEM50A, TMEM51, TMEM52, TMEM53, TMEM54, TMEM59, TMEM61, TMEM63A, TMEM69, TMEM79, TMEM81, TMEM82, TMEM88B, TMEM9, TMOD4, TNFAIP8L2, TNFRSF14, TNFRSF18, TNFRSF1B, TNFRSF25, TNFRSF4, TNNT2, TNR, TOE1, TOMM20, TOMM40L, TOR1AIP1, TP73, TPM3, TPR, TPRG1L, TRABD2B, TRAF3IP3, TRIM33, TRIM45, TRIM46, TRIM58, TRIM62, TRIM63, TRIM67, TRIT1, TRMT13, TRMT1L, TRN-GTT2-7, TRNAU1AP, TRNP1, TRQ-CTG14-1, TSACC, TSEN15, TSHB, TSNAX, TSPAN1, TSPAN2, TSSK3, TSTD1, TTC13, TTC22, TTC24, TTC34, TTC39A, TTC4, TTF2, TTLL10, TTLL7, TUFT1, TUT4, TXLNA, TXNDC12, TXNIP, UBXN11, UCHL5, UCK2, UFC1, UHMK1, UQCRH, URB2, UROD, USF1, USH2A, USP1, USP21, USP24, USP33, USP48, UTP11, UTP25, UTS2, VAMP3, VAMP4, VANGL1, VANGL2, VASH2, VAV3, VCAM1, VHLL, VN1R5, VPS13D, VPS45, VPS72, VSIG8, VTCN1, VWA1, VWA5B1, WARS2, WASF2, WDR26, WDR3, WDR47, WDR64, WDR77, WDTC1, YRDC, YTHDF2, YY1AP1, ZBED6, ZBTB17, ZBTB18, ZBTB37, ZBTB40, ZBTB41, ZBTB48, ZBTB7B, ZBTB8A, ZBTB8B, ZBTB8OS, ZC3H11A, ZC3H12A, ZCCHC17, ZDHHC18, ZFP69, ZFP69B, ZFYVE9, ZMPSTE24, ZMYM1, ZMYM4, ZMYM6, ZMYND12, ZNF124, ZNF281, ZNF326, ZNF362, ZNF436, ZNF496, ZNF593, ZNF644, ZNF648, ZNF669, ZSWIM5, ZYG11A, ZYG11B, ZZZ3, ATXN7L2, C1orf116, CAPN8, CDKN2C, CELA3A, CELA2B, CELA2A, CAPZA1, CAPZB, CASP9, C1orf122, C1orf162, C1orf167, C1orf159, C1orf127, C1orf131, AURKAIP1, C1orf141, C1orf146, CAPN9, CASQ1, CASQ2, CCDC181, APH1A, ARHGAP29, ARHGAP30, ARHGEF10L, APOA2, APOBEC4, AQP10, ARF1, CCDC185, AUNIP, AXDND1, AZIN2, B3GALNT2, B3GALT2, AVPR1B, AGO1, AHCYL1, AGO3, AGO4, AGRN, AGT, AGTRAP, AHCTF1, B3GALT6, A3GALT2, AADACL3, AADACL4, ABCA4, ABCB10, ABCD3, ABL2, ACADM, ACAP3, ACBD3, ACBD6, ACKR1, ACOT11, ACOT7, ACP6, ACTA1, ACTL8, ACTN2, ACTRT2, ADAM15, ADAM30, ADAMTS4, ADAMTSL4, ADAR, ADCY10, ADGRB2, ADGRL2, ADGRL4, ADIPOR1, ADORA1, ADORA3, ADPRS, ADSS2, AHDC1, AIDA, AIM2, AIRIM, AJAP1, AK2, AK4, AK5, AKIRIN1, AKNAD1, AKR1A1, AKR7A2, AKR7A3, AKR7L, AKT3, ALDH4A1, ALDH9A1, ALG14, ALG6, ALPL, ALX3, AMIGO1, AMPD1, AMPD2, AMY1A, AMY1B, AMY1C, AMY2A, AMY2B, ANGEL2, ANGPTL1, ANGPTL3, ANGPTL7, ANKRD13C, ANKRD13C-DT, ANKRD34A, ANKRD35, ANKRD45, ANKRD65, ANP32E, ANXA9, AP4B1, ARHGEF11, ARHGEF16, ARHGEF19, ARHGEF2, ARID1A, ARID4B, ARL8A, ARMH1, ARNT, ARPC5, ARTN, ARV1, ASAP3, ASB17, ASCL5, ASH1L, ASPM, ASTN1, ATAD3A, ATAD3B, ATAD3C, ATF3, ATF6, ATG4C, ATP13A2, ATP1A1, ATP1A2, ATP1A4, ATP1B1, ATP2B4, ATP5IF1, ATP5PB, ATP6V0B, ATP6V1G3, ATP8B2, ATPAF1, B4GALT2, B4GALT3, BARHL2, BATF3, BCAN, BCAR3, BCAS2, BCL10, BCL2L15, BCL9, BEND5, BEST4, BGLAP, BLZF1, BMP8A, BMP8B, BNIPL, BOLA1, BPNT1, BRDT, BRINP2, BRINP3, BROX, BSDC1, BSND, BTBD19, BTBD8, BTF3L4, BTG2, BTNL10, C1QA, C1QB, C1QC, C1QTNF12, C1orf105, C1orf115, C1orf174, C1orf185, C1orf198, C1orf21, C1orf210, C1orf216, C1orf226, C1orf35, C1orf43, C1orf50, C1orf52, C1orf53, C1orf54, C1orf56, C1orf74, C1orf87, C1orf94, C2CD4D, C4BPA, C4BPB, C8A, C8B, CA14, CA6, CACHD1, CACNA1E, CACNA1S, CACYBP, CADM3, CALML6, CAMK1G, CAMK2N1, CAMSAP2, CAMTA1, CAP1, CAPN2, CASZ1, CATSPER4, CATSPERE, CC2D1B, CCDC17, CCDC18, CCDC190, CCDC24, CCDC27, CCDC28B, CCDC30, CCN1, CCNL2, CCSAP, CCT3, CD101, CD160, CD164L2, CD1A, CD1B, CD1C, CD1D, CD1E, CD2, CD244, CD247, CD34, CD46, CD48, CD52, CD53, CD55, CD58, CD5L, CD84, CDA, CDC14A, CDC20, CDC42, CDC42BPA, CDC42SE1, CDC7, CDC73, CDCA8, CDCP2, CDK11A, CDK11B, CDK18, CELA3B, CELF3, CELSR2, CENPF, CENPL, CENPS, CENPS-CORT, CEP104, CEP170, CEP350, CEP85, CEPT1, CERS2, CFAP107, CFAP126, CFAP141, CFAP144, CFAP276, CFAP45, CFAP57, CFAP74, CFH, CFHR1, CFHR2, CFHR3, CFHR4, CFHR5, CGN, CHD1L, CHD5, CHI3L1, CHI3L2, CHIA, CHIT1, CHML, CHRM3, CHRNB2, CHTOP, CIART, CIMAP2, CIMAP3, CITED4, CKS1B, CLCA1, CLCA2, CLCA4, CLCC1, CLCN6, CLCNKA, CLCNKB, CLDN19, CLIC4, CLK2, CLSPN, CLSTN1, CMPK1, CNIH3, CNIH4, CNKSR1, CNN3, CNR2, CNST, CNTN2, COA6, COA7, COG2, COL11A1, COL16A1, COL24A1, COL8A2, COL9A2, COLGALT2, COP1, COPA, COQ8A, CORT, COX20, CPLANE2, CPT2, CPTP, CR1, CR1L, CR2, CRABP2, CRB1, CRCT1, CREB3L4, CREG1, CRNN, CROCC, CRP, CRTC2, CRYBG2, CRYZ, CSDE1, CSF1, CSF3R, CSMD2, CSRP1, CTBS, CTH, CTNNBIP1, CTPS1, CTRC, CTSE, CTSK, CTSS, CTTNBP2NL, CYB561D1, CYB5R1, CYB5RL, CYP2J2, CYP4A11, CYP4A22, CYP4B1, CYP4X1, CYP4Z1, CZIB, DAB1, DAP3, DARS2, DBT, DCAF6, DCAF8, DCAF8-DT, DCDC2B, DCLRE1B, DCST1, DCST2, DDAH1, DDI2, DDOST, DDR2, DDX20, DDX59, DEDD, DEGS1, DENND1B, DENND2C, DENND2D, DENND4B, DEPDC1, DESI2, DFFA, DFFB, DHCR24, DHDDS, DHRS3, DHX9, DIO1, DIPK1A, DIRAS3, DISC1, DISC2, DISP1, DISP3, DLGAP3, DMAP1, DMBX1, DMRTA2, DMRTB1, DNAH14, DNAI3, DNAI4, DNAJB4, DNAJC11, DNAJC16, DNAJC6, DNAJC8, DNALI1, DNASE2B, DNM3, DNM3OS, DNTTIP2, DOCK7, DPH2, DPH5, DPM3, DPT, DPYD, DR1, DRAM2, DRAXIN, DSTYK, DTL, DUSP10, DUSP12, DUSP23, DVL1, DYNLT4, DYNLT5, DYRK3, E2F2, EBNA1BP2, ECE1, ECHDC2, ECM1, EDARADD, EDEM3, EDN2, EEIG2, EFCAB14, EFCAB2, EFCAB7, EFHD2, EFNA1, EFNA3, EFNA4, EGLN1, EIF2B3, EIF2D, EIF3I, EIF4G3, ELAPOR1, ELAVL4, ELF3, ELK4, ELOA, ELOVL1, EMC1, ENAH, ENO1, ENO1-AS1, ENSA, ENTREP3, EPB41, EPHA10, EPHA2, EPHA8, EPHB2, EPHX1, EPHX4, EPRS1, EPS15, EPS8L3, ERI3, ERICH3, ERMAP, ERO1B, ERRFI1, ESPN, ESRRG, ETNK2, ETV3, ETV3L, EVA1B, EVI5, EXO1, EXO5, EXOC8, EXOSC10, EXTL1, EXTL2, EYA3, F11R, F13B, F3, F5, FAAH, FAAP20, FABP3, FAF1, FALEC, FAM110D, FAM131C, FAM151A, FAM163A, FAM167B, FAM177B, FAM20B, FAM229A, FAM43B, FAM72A, FAM72B, FAM72C, FAM72D, FAM76A, FAM78B, FAM89A, FASLG, FBLIM1, FBXO2, FBXO28, FBXO42, FBXO44, FBXO6, FCAMR, FCER1A, FCER1G, FCGR1A, FCGR2A, FCGR2B, FCGR2C, FCGR3A, FCGR3B, FCMR, FCN3, FCRL1, FCRL2, FCRL3, FCRL4, FCRL5, FCRL6, FCRLA, FCRLB, FDPS, FGGY, FGR, FH, FHAD1, FHL3, FIRRM, FLAD1, FLG, FLG2, FLVCR1, FLVCR1-DT, FMN2, FMO1, FMO2, FMO3, FMO4, FMO5, FMOD, FNBP1L, FNDC10, FNDC5, FNDC7, FOXD2, FOXD3, FOXE3, FOXJ3, FOXO6, FPGT, FPGT-TNNI3K, FRRS1, FUBP1, FUCA1, FYB2, G0S2, GABPB2, GABRD, GADD45A, GALE, GALNT2, GARIN4, GAS5, GATAD2B, GBA1, GBP1, GBP2, GBP3, GBP4, GBP5, GBP6, GBP7, GCLM, GCSAML, GDAP2, GFI1, GGPS1, GIPC2, GJA4, GJA5, GJA8, GJA9, GJB3, GJB4, GJB5, GJC2, GLIS1, GLMN, GLMP, GLRX2, GLUL, GMEB1, GNAI3, GNAT2, GNB1, GNG12, GNG4, GNG5, GNL2, GNPAT, GOLPH3L, GOLT1A, GON4L, GORAB, GPA33, GPATCH2, GPATCH3, GPATCH4, GPBP1L1, GPN2, GPR137B, GPR153, GPR157, GPR161, GPR25, GPR3, GPR37L1, GPR52, GPR61, GPR88, GPR89A, GPR89B, GPSM2, GPX7, GREM2, GRHL3, GRIK3, GSTM1, GSTM2, GSTM3, GSTM4, GSTM5, GTF2B, GUCA2A, GUCA2B, GUK1, H2AC18, H2AC19, H2AC20, H2AC21, H2AC25, H2BC18, H2BC21, H2BC26, H3-3A, H3-4, H3C13, H3C14, H3C15, H4C14, H4C15, H6PD, HAO2, HAPLN2, HAX1, HCN3, HCRTR1, HDAC1, HDGF, HEATR1, HECTD3, HENMT1, HES2, HES3, HES4, HES5, HEYL, HFM1, HHAT, HHIPL2, HIPK1, HIVEP3, HJV, HLX, HMCN1, HMGB4, HMGCL, HMGCS2, HMGN2, HNRNPCL1, HNRNPCL2, HNRNPR, HNRNPU, HOOK1, HORMAD1, HP1BP3, HPCA, HPCAL4, HPDL, HRNR, HS2ST1, HSD11B1, HSD17B7, HSD3B1, HSD3B2, HSPA6, HSPB7, HSPG2, HTR1D, HTR6, HYI, IARS2, IBA57, ICMT, ID3, IER5, IFFO2, IFI16, IFI44, IFI44L, IFI6, IFNLR1, IFT25, IGFN1, IGSF21, IGSF3, IGSF8, IGSF9, IKBKE, IKBKE-AS1, IL10, IL12RB2, IL19, IL20, IL22RA1, IL23R, IL24, IL6R, ILDR2, ILF2, INAVA, INKA2, INPP5B, INSL5, INSRR, INTS11, INTS3, INTS7, IPO13, IPO9, IPP, IQCC, IQGAP3, IRF2BP2, IRF6, ISG15, ISG20L2, ITGA10, ITGB3BP, ITLN1, ITLN2, ITPKB, IVL, IVNS1ABP, JAK1, JMJD4, JTB, JUN, KANK4, KAZN, KCNA10, KCNA2, KCNA3, KCNAB2, KCNC4, KCND3, KCNH1, KCNJ10, KCNJ9, KCNK1, KCNK2, KCNN3, KCNQ4, KCNT2, KCTD3, KDF1, KDM1A, KDM4A, KDM5B, KHDC4, KHDRBS1, KIAA0040, KIAA0319L, KIAA0754, KIAA1614, KIAA2013, KIF14, KIF17, KIF1B, KIF21B, KIF26B, KIF2C, KIFAP3, KIRREL1, KIRREL1-IT1, KISS1, KLF17, KLHDC7A, KLHDC8A, KLHDC9, KLHL12, KLHL17, KLHL20, KLHL21, KMO, KNCN, KPLCE, KPNA6, KPRP, KRTCAP2, KTI12, KYAT3, L1TD1, LACTBL1, LAD1, LAMB3, LAMC1, LAMC2, LAMTOR2, LAMTOR5, LAPTM5, LAX1, LBR, LCE1A, LCE1B, LCE1C, LCE1D, LCE1E, LCE1F, LCE2A, LCE2B, LCE2C, LCE2D, LCE3A, LCE3B, LCE3C, LCE3D, LCE3E, LCE4A, LCE5A, LCE6A, LCK, LDLRAD1, LDLRAD2, LDLRAP1, LEFTY1, LEFTY2, LELP1, LEMD1, LENEP, LEPR, LEPROT, LGALS8, LGR6, LHX4, LHX8, LHX9, LIN28A, LIN9, LINC00538, LINC00853, LINC01649, LINC01783, LINC02897, LINGO4, LIX1L, LMNA, LMO4, LMOD1, LMX1A, LNCATV, LOC101927434, LOC101928034, LORICRIN, LPAR3, LPGAT1, LRIF1, LRIG2, LRP8, LRRC38, LRRC39, LRRC40, LRRC41, LRRC42, LRRC47, LRRC52, LRRC7, LRRC71, LRRC8B, LRRC8C, LRRC8D, LRRIQ3, LRRN2, LSM10, LURAP1, LUZP1, LY9, LYPD8, LYPLA2, LYPLAL1, LYSMD1, LYST, LZIC, MAB21L3, MACF1, MACO1, MAD2L2, MAEL, MAGI3, MAGOH, MAN1A2, MAN1C1, MANEAL, MAP10, MAP1LC3C, MAP3K21, MAP3K6, MAP7D1, MAPKAPK2, MARCKSL1, MARK1, MASP2, MAST2, MATN1, MCL1, MCOLN2, MCOLN3, MDM4, MDS2, MEAF6, MECR, MED18, MED8, MEF2D, MEGF6, METTL13, METTL18, METTL25B, MEX3A, MFAP2, MFN2, MFSD14A, MFSD2A, MFSD4A, MGST3, MIA3, MIB2, MICOS10, MICOS10-NBL1, MIER1, MIGA1, MIIP, MINDY1, MIR101-1, MIR137, MIR181A1, MIR181B1, MIR194-1, MIR197, MIR199A2, MIR200A, MIR200B, MIR205, MIR205HG, MIR214, MIR215, MIR29B2CHG, MIR29C, MIR30C1, MIR3120, MIR34A, MIR429, MIR551A, MIR9-1, MIR9-1HG, MIXL1, MKNK1, MLLT11, MMACHC, MMEL1, MMP23B, MNDA, MOB3C, MORN1, MOV10, MPC2, MPL, MPZ, MPZL1, MR1, MROH7, MROH9, MRPL20, MRPL24, MRPL37, MRPL55, MRPL9, MRPS14, MRPS15, MRPS21, MRTO4, MSH4, MSTO1, MT1HL1, MTARC1, MTARC2, MTF1, MTF2, MTFR1L, MTHFR, MTMR11, MTOR, MTR, MTX1, MUC1, MUL1, MUTYH, MXRA8, MYBPH, MYBPHL, MYCBP, MYCL, MYOC, MYOG, MYOM3, MYSM1, NADK, NASP, NAV1, NAXE, NBL1, NBPF1, NBPF10, NBPF11, NBPF12, NBPF15, NBPF3, NBPF4, NBPF6, NBPF8, NBPF9, NCDN, NCF2, NCMAP, NCSTN, NDC1, NDUFS2, NDUFS5, NECAP2, NECTIN4, NEGR1, NEGR1-IT1, NEK2, NEK7, NENF, NES, NEXN, NFASC, NFIA, NFYC, NGF, NHLH1, NHLH2, NHSL3, NIBAN1, NID1, NIPAL3, NIT1, NKAIN1, NLRP3, NME7, NMNAT1, NMNAT2, NOC2L, NOL9, NOS1AP, NOTCH2, NOTCH2NLA, NPHP4, NPHS2, NPL, NPPA, NPPB, NPR1, NR0B2, NR1I3, NR5A2, NRAS, NRDC, NSL1, NSUN4, NT5C1A, NTMT2, NTNG1, NTPCR, NTRK1, NUAK2, NUCKS1, NUDC, NUDT17, NUF2, NUP133, NUP210L, NVL, OAZ3, OBSCN, OCLM, ODF2L, ODR4, OLFM3, OLFML2B, OLFML3, OMA1, OPN3, OPRD1, OPTC, OR10J1, OR10J3, OR10J5, OR10K1, OR10K2, OR10R2, OR10T2, OR10X1, OR10Z1, OR11L1, OR13G1, OR14A16, OR14C36, OR14I1, OR1C1, OR2AK2, OR2B11, OR2C3, OR2G2, OR2G3, OR2G6, OR2L13, OR2L2, OR2L3, OR2L5, OR2L8, OR2M2, OR2M3, OR2M4, OR2M5, OR2M7, OR2T1, OR2T10, OR2T11, OR2T12, OR2T2, OR2T27, OR2T29, OR2T3, OR2T33, OR2T34, OR2T35, OR2T4, OR2T5, OR2T6, OR2T8, OR2W3, OR4F16, OR4F29, OR4F5, OR6F1, OR6K2, OR6K3, OR6K6, OR6N1, OR6N2, OR6P1, OR6Y1, ORC1, OSBPL9, OSCP1, OTUD3, OTUD7B, OVGP1, OXCT2, P3H1, PABPC4, PABPC4-AS1, PACC1, PADI1, PADI2, PADI3, PADI4, PADI6, PAFAH2, PALMD, PANK4, PAPPA2, PAQR6, PAQR7, PARK7, PARP1, PARS2, PATJ, PAX7, PBX1, PBXIP1, PCAT6, PCNX2, PCP4L1, PCSK9, PDC, PDE4B, PDE4DIP, PDIK1L, PDPN, PDZK1, PDZK1IP1, PEA15, PEAR1, PEF1, PER3, PEX10, PEX11B, PEX14, PEX19, PFDN2, PFKFB2, PGBD2, PGBD5, PGD, PGLYRP3, PGLYRP4, PGM1, PHACTR4, PHC2, PHF13, PHGDH, PHLDA3, PHTF1, PI4KB, PIAS3, PIGC, PIGK, PIGM, PIGR, PIGV, PIK3C2B, PIK3CD, PIK3R3, PINK1, PIP5K1A, PITHD1, PKLR, PKN2, PKP1, PLA2G2A, PLA2G2C, PLA2G2D, PLA2G2E, PLA2G2F, PLA2G4A, PLA2G5, PLCH2, PLD5, PLEKHA6, PLEKHG5, PLEKHM2, PLEKHN1, PLEKHO1, PLK3, PLOD1, PLPP3, PLPPR4, PLXNA2, PM20D1, PMF1, PMF1-BGLAP, PMVK, PNRC2, PODN, POGK, POGZ, POLR3C, POLR3GL, POMGNT1, POU2F1, POU3F1, PPCS, PPFIA4, PPIAL4A, PPIAL4C, PPIAL4D, PPIAL4E, PPIAL4F, PPIAL4G, PPIE, PPIH, PPM1J, PPOX, PPP1R12B, PPP1R15B, PPP1R8, PPP2R5A, PPT1, PRAMEF1, PRAMEF10, PRAMEF11, PRAMEF12, PRAMEF13, PRAMEF15, PRAMEF17, PRAMEF18, PRAMEF19, PRAMEF2, PRAMEF20, PRAMEF22, PRAMEF4, PRAMEF5, PRAMEF6, PRAMEF7, PRAMEF8, PRAMEF9, PRCC, PRDM16, PRDM2, PRDX1, PRDX6, PRELP, PRG4, PRKAA2, PRKAB2, PRKACB, PRKCZ, PRMT6, PROK1, PROX1, PRPF3, PRPF38A, PRPF38B, PRR9, PRRC2C, PRRX1, PRSS38, PRUNE1, PRXL2B, PSEN2, PSMA5, PSMB2, PSMB4, PSMD4, PSRC1, PTAFR, PTBP2, PTCH2, PTGER3, PTGFR, PTGFRN, PTGS2, PTP4A2, PTPN14, PTPN22, PTPN7, PTPRC, PTPRF, PTPRU, PUM1, PUSL1, PYCR2, PYGO2, PYHIN1, QSOX1, RAB13, RAB25, RAB29, RAB3B, RAB3GAP2, RAB42, RAB4A, RABGAP1L, RABGGTB, RABIF, RAD54L, RALGPS2, RAP1A, RAP1GAP, RASAL2, RASSF5, RAVER2, RBBP4, RBBP5, RBM15, RBM34, RBM8A, RBMXL1, RBP7, RC3H1, RCAN3, RCC1, RCC2, RCOR3, RCSD1, RD3, REG4, REN, RER1, RERE, RFX5, RGL1, RGS1, RGS13, RGS16, RGS18, RGS2, RGS21, RGS4, RGS5, RGS7, RGS8, RGSL1, RHBDL2, RHBG, RHCE, RHD, RHEX, RHOC, RHOU, RIIAD1, RIMKLA, RIMS3, RIT1, RLF, RNASEL, RNF11, RNF115, RNF186, RNF187, RNF19B, RNF2, RNF207, RNF220, RNF223, RNPC3, RNPEP, RNU1-4, RO60, ROR1, RORC, RPA2, RPAP2, RPE65, RPF1, RPL11, RPL22, RPL5, RPRD2, RPS27, RPS6KA1, RPS6KC1, RPS8, RPTN, RRAGC, RRP15, RSBN1, RSC1A1, RSPO1, RSRP1, RTCA, RUNX3, RUSC1, RUSC1-AS1, RWDD3, RXFP4, RXRG, RYR2, S100A1, S100A10, S100A11, S100A12, S100A13, S100A14, S100A16, S100A2 | | not provided | Pathogenic (Jan 1, 2013) | no assertion criteria provided |
| - GRCh37:
- Chr1:33241563-46663513
| CLSPN, COL8A2, KIF2C, PPIH, DNALI1, DPH2, KLF17, LSM10, PPT1, PRDX1, TMEM125, TMEM35B, TMEM53, TMEM54, TMEM69, TRIM62, TRIT1, TSPAN1, UROD, UTP11, YBX1, YRDC, ZC3H12A, ZFP69, SCMH1, SF3A3, YARS1, TOE1, TRAPPC3, PSMB2, PTCH2, MFSD2A, MIR30C1, MMACHC, MPL, MRPS15, MTF1, MUTYH, MYCBP, MANEAL, MAP7D1, PTPRF, RHBDL2, RIMKLA, RIMS3, RLF, RNF19B, RNF220, RRAGC, RSPO1, ERI3, ERMAP, EVA1B, DYNLT4, GJA9, GJB3, GJB4, GJB5, GNL2, GPBP1L1, ELOVL1, EPHA10, EBNA1BP2, EDN2, EIF2B3, RPS8, S100PBP, MAST2, MEAF6, AGO1, ATP6V0B, AZIN2, ARMH1, ARTN, B4GALT2, BEST4, A3GALT2, ADPRS, AKIRIN1, AKR1A1, AIRIM, AK2, AGO3, AGO4, MACF1, MED8, BMP8A, BMP8B, BTBD19, C1orf122, C1orf210, C1orf216, C1orf50, C1orf94, CAP1, CCDC17, CCDC24, CCDC30, CDC20, CDCA8, CFAP144, CFAP57, CITED4, CLDN19, COL9A2, CSF3R, CSMD2, CTPS1, DLGAP3, DMAP1, EXO5, FHL3, FNDC5, FOXJ3, FOXO6, GJA4, GRIK3, GUCA2A, GUCA2B, HECTD3, HEYL, HIVEP3, HMGB4, HPCA, HPCAL4, HPDL, HYI, INPP5B, IPO13, IPP, KCNQ4, KDM4A, KIAA0319L, KIAA0754, MYCL, NASP, NCDN, NDUFS5, NFYC, |