| - GRCh37:
- Chr1:207519987-249224684
- GRCh38:
- Chr1:207346642-248930485
| ABCB10, ACBD3, ACBD3-AS1, ACTA1, ACTN2, ADSS2, AGT, AHCTF1, AIDA, AKT3, AKT3-IT1, ANGEL2, ARF1, ARID4B, ARV1, ATF3, B3GALNT2, BATF3, BECN2, BPNT1, BROX, BTNL10, C1orf115, C1orf131, C1orf198, C1orf202, C1orf35, C1orf74, CAMK1G, CAPN2, CAPN8, CAPN9, CATSPERE, CCDC185, CCSAP, CD34, CD46, CD55, CDC42BPA, CENPF, CEP170, CHML, CHRM3, CHRM3-AS1, CHRM3-AS2, CNIH3, CNIH3-AS1, CNIH3-AS2, CNIH4, CNST, COA6, COA6-AS1, COG2, COQ8A, COX20, CR1, CR1L, CR2, DEGS1, DESI2, DISC1, DISC1-IT1, DISC2, EGLN1, DISP1, DNAH14, DTL, DUSP10, EDARADD, EFCAB2, ENAH, EPHX1, EPRS1, ERO1B, ESRRG, EXO1, EXOC8, FAM177B, FAM89A, FBXO28, FH, FLJ39095, FLVCR1, FLVCR1-DT, FMN2, G0S2, GALNT2, GARIN4, GCSAML, GCSAML-AS1, GGPS1, GJC2, GNG4, GNPAT, GPATCH2, GPR137B, GREM2, GUK1, H2AC25, H2BC26, H3-3A, H3-3A-DT, H3-4, HEATR1, HHAT, HHIPL2, HLX, HLX-AS1, HNRNPU, HSD11B1, HSD11B1-AS1, IARS2, IBA57, IBA57-DT, INTS7, IRF2BP2, IRF6, ITPKB, ITPKB-IT1, JMJD4, KCNH1, KCNH1-IT1, KCNK1, KCNK2, KCTD3, KIF26B, KIF26B-AS1, KMO, LAMB3, LBR, LEFTY1, LEFTY2, LGALS8, LGALS8-AS1, LIN9, LINC00184, LINC00210, LINC00467, LINC00538, LINC00582, LINC01132, LINC01139, LINC01341, LINC01347, LINC01348, LINC01352, LINC01354, LINC01641, LINC01653, LINC01655, LINC01682, LINC01696, LINC01698, LINC01703, LINC01710, LINC01717, LINC01736, LINC01737, LINC01740, LINC01743, LINC01744, LINC01745, LINC01774, LINC02257, LINC02474, LINC02602, LINC02608, LINC02765, LINC02767, LINC02768, LINC02769, LINC02771, LINC02773, LINC02774, LINC02779, LINC02809, LINC02815, LINC02817, LINC02869, LINC02897, LINC02961, LNCATV, LOC100506929, LOC101927143, LOC101927164, LOC101927604, LOC101927787, LOC101928068, LOC105373289, LOC107325941, LOC107325942, LOC107546745, LOC107546746, LOC107546747, LOC107546778, LOC107546780, LOC107548103, LOC107985355, LOC108004528, LOC110120610, LOC110120698, LOC110120807, LOC110121042, LOC110121057, LOC110121205, LOC110121251, LOC110121257, LOC110121263, LOC110121264, LOC110121265, LOC110121266, LOC110121306, LOC110121307, LOC111365197, LOC111365208, LOC111429604, LOC111828504, LOC112577533, LOC112577534, LOC112577535, LOC112577536, LOC112577537, LOC112577538, LOC112577542, LOC112577543, LOC112577544, LOC112577545, LOC112577546, LOC112577547, LOC112577548, LOC112577552, LOC112577554, LOC112577555, LOC112577556, LOC112577557, LOC112577558, LOC112577559, LOC112577560, LOC112577561, LOC112577565, LOC112577566, LOC112577567, LOC112577568, LOC112577569, LOC113939983, LOC113939984, LOC113939987, LOC115804244, LOC115804245, LOC115804246, LOC115804247, LOC115804248, LOC115804249, LOC115804250, LOC115804251, LOC115804252, LOC115804253, LOC115804254, LOC115804255, LOC115804256, LOC120807606, LOC120807610, LOC120908903, LOC120908904, LOC120908905, LOC120908906, LOC120908907, LOC120908908, LOC120908909, LOC120908910, LOC120908911, LOC120908912, LOC120908913, LOC120908914, LOC120908915, LOC120908916, LOC120908917, LOC120908918, LOC120908919, LOC120908920, LOC120908921, LOC120908922, LOC120908923, LOC120947224, LOC121725072, LOC121725073, LOC121725074, LOC121725075, LOC121725076, LOC122149487, LOC122149488, LOC122149489, LOC122149490, LOC122149491, LOC122149492, LOC122149493, LOC122149494, LOC122149495, LOC122149496, LOC122149497, LOC122152293, LOC122152294, LOC122152295, LOC122152296, LOC122152297, LOC122152298, LOC122152299, LOC122152300, LOC122152301, LOC122152302, LOC122152303, LOC122152304, LOC122152305, LOC122152306, LOC122152307, LOC122152308, LOC122152309, LOC122152310, LOC122152311, LOC122152312, LOC122152313, LOC122152314, LOC122152315, LOC122152316, LOC122152317, LOC122152318, LOC122152319, LOC122152320, LOC122152321, LOC122152322, LOC122152332, LOC122152333, LOC122152334, LOC122152335, LOC122152336, LOC122152337, LOC122152338, LOC122152339, LOC122152340, LOC122152341, LOC122152342, LOC122152343, LOC122152344, LOC122152345, LOC122152346, LOC122152347, LOC122152348, LOC122152349, LOC122152350, LOC122152351, LOC122152352, LOC122152353, LOC122152354, LOC122152355, LOC122152356, LOC122152357, LOC122152358, LOC122152359, LOC122152360, LOC122152361, LOC122152362, LOC122526782, LOC126264117, LOC126805994, LOC126805995, LOC126805996, LOC126805997, LOC126805998, LOC126805999, LOC126806000, LOC126806001, LOC126806002, LOC126806003, LOC126806004, LOC126806005, LOC126806006, LOC126806007, LOC126806008, LOC126806009, LOC126806010, LOC126806011, LOC126806012, LOC126806013, LOC126806014, LOC126806015, LOC126806016, LOC126806017, LOC126806018, LOC126806019, LOC126806020, LOC126806021, LOC126806022, LOC126806023, LOC126806024, LOC126806025, LOC126806026, LOC126806027, LOC126806028, LOC126806029, LOC126806030, LOC126806031, LOC126806032, LOC126806033, LOC126806034, LOC126806035, LOC126806036, LOC126806037, LOC126806038, LOC126806039, LOC126806040, LOC126806041, LOC126806042, LOC126806043, LOC126806044, LOC126806045, LOC126806046, LOC126806047, LOC126806048, LOC126806049, LOC126806050, LOC126806051, LOC126806052, LOC126806053, LOC126806054, LOC126806055, LOC126806056, LOC126806057, LOC126806058, LOC126806059, LOC126806060, LOC126806061, LOC126806062, LOC126806063, LOC126806064, LOC126806065, LOC126806066, LOC126806067, LOC126806068, LOC126806069, LOC126806070, LOC126806071, LOC126806072, LOC126806073, LOC126806074, LOC126806075, LOC126806076, LOC126806077, LOC126806078, LOC126806079, LOC126806080, LOC126806081, LOC126806082, LOC126806083, LOC126806084, LOC126806085, LOC126806086, LOC126806087, LOC126806088, LOC126806089, LOC126806090, LOC128598893, LOC128598894, LOC128635606, LOC128635607, LOC128772240, LOC128772241, LOC128772242, LOC128772243, LOC128772244, LOC128772245, LOC148696, LOC440742, LPGAT1, LPGAT1-AS1, LYPD8, LYPLAL1, LYPLAL1-AS1, LYPLAL1-DT, LYST, MAP10, MAP1LC3C, MAP3K21, MARK1, MIA3, MIR1182, MIR1537, MIR194-1, MIR205, MIR205HG, MIR215, MIR29B2, MIR29B2CHG, MIR29C, MIR3122, MIR3123, MIR3124, MIR320B2, MIR3620, MIR3916, MIR4260, MIR4427, MIR4428, MIR4666A, MIR4671, MIR4677, MIR4742, MIR4753, MIR5008, MIR664A, MIR6741, MIR6742, MIXL1, MRPL55, MT1HL1, MTARC1, MTARC2, MTR, NEK2, NEK2-DT, NENF, NID1, NLRP3, NSL1, NTPCR, NTRAS, NUP133, NUP133-DT, NVL, OBSCN, OBSCN-AS1, OPN3, OR11L1, OR13G1, OR14A16, OR14A2, OR14C36, OR14I1, OR14K1, OR14L1, OR1C1, OR2AJ1, 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, OR2T7, OR2T8, OR2W3, OR6F1, OR9H1P, PACC1, PARP1, PCNX2, PGBD2, PGBD5, PLD5, PLXNA2, PPP2R5A, PROX1, PROX1-AS1, PRSS38, PSEN2, PTPN14, PYCR2, RAB3GAP2, RAB4A, RAB4A-AS1, RBM34, RCOR3, RD3, RGS7, RHOU, RNA5S1, RNA5S10, RNA5S11, RNA5S12, RNA5S13, RNA5S14, RNA5S15, RNA5S16, RNA5S17, RNA5S2, RNA5S3, RNA5S4, RNA5S5, RNA5S6, RNA5S7, RNA5S8, RNA5S9, RNF187, RPS6KC1, RRP15, RYR2, SCCPDH, SDCCAG8, SDE2, SERTAD4, SERTAD4-AS1, SH3BP5L, SIPA1L2, SLC30A1, SLC30A10, SLC35F3, SLC35F3-AS1, SMYD2, SMYD3, SMYD3-AS1, SNAP47, SNORA100, SNORA14B, SNORA16B, SNORA36B, SPATA17, SPATA17-AS1, SPATA45, SPHAR, SPMIP3, SPRTN, SRP9, STUM, SUSD4, SYT14, TAF1A, TAF1A-AS1, TAF5L, TARBP1, TATDN3, TBCE, TFB2M, TGFB2, TGFB2-AS1, TGFB2-OT1, TLR5, TMEM63A, TMEM78, TOMM20, TP53BP2, TRAF3IP3, TRAF5, TRE-CTC2-1, TRIM11, TRIM17, TRIM58, TRIM67, TRIM67-AS1, TRL-CAA4-1, TRT-TGT2-1, TSNAX, TSNAX-DISC1, TTC13, URB2, USH2A, USH2A-AS1, USH2A-AS2, UTP25, VASH2, VN1R5, WDR26, WDR64, WNT3A, WNT9A, ZBTB18, ZC3H11B, ZNF124, ZNF496, ZNF496-DT, ZNF669, ZNF670, ZNF670-ZNF695, ZNF672, ZNF678, ZNF692, ZNF695, ZP4 | | See cases | Pathogenic (Mar 10, 2014) | no assertion criteria provided |
| - GRCh37:
- Chr1:209819552-249225312
- GRCh38:
- Chr1:209646207-248931113
| ABCB10, ACBD3, ACBD3-AS1, ACTA1, ACTN2, ADSS2, AGT, AHCTF1, AIDA, AKT3, AKT3-IT1, ANGEL2, ARF1, ARID4B, ARV1, ATF3, B3GALNT2, BATF3, BECN2, BPNT1, BROX, BTNL10, C1orf115, C1orf131, C1orf198, C1orf202, C1orf35, C1orf74, CAPN2, CAPN8, CAPN9, CATSPERE, CCDC185, CCSAP, CDC42BPA, CENPF, CEP170, CHML, CHRM3, CHRM3-AS1, CHRM3-AS2, CNIH3, CNIH3-AS1, CNIH3-AS2, CNIH4, CNST, COA6, COA6-AS1, COG2, COQ8A, COX20, DEGS1, DESI2, DISC1, DISC1-IT1, DISC2, DISP1, DNAH14, DTL, DUSP10, EDARADD, EFCAB2, EGLN1, ENAH, EPHX1, EPRS1, ERO1B, ESRRG, EXO1, EXOC8, FAM177B, FAM89A, FBXO28, FH, FLJ39095, FLVCR1, FLVCR1-DT, FMN2, G0S2, GALNT2, GARIN4, GCSAML, GCSAML-AS1, GGPS1, GJC2, GNG4, GNPAT, GPATCH2, GPR137B, GREM2, GUK1, H2AC25, H2BC26, H3-3A, H3-3A-DT, H3-4, HEATR1, HHAT, HHIPL2, HLX, HLX-AS1, HNRNPU, HSD11B1, HSD11B1-AS1, IARS2, IBA57, IBA57-DT, INTS7, IRF2BP2, IRF6, ITPKB, ITPKB-IT1, JMJD4, KCNH1, KCNH1-IT1, KCNK1, KCNK2, KCTD3, KIF26B, KIF26B-AS1, KMO, LAMB3, LBR, LEFTY1, LEFTY2, LGALS8, LGALS8-AS1, LIN9, LINC00184, LINC00210, LINC00467, LINC00538, LINC00582, LINC01132, LINC01139, LINC01341, LINC01347, LINC01348, LINC01352, LINC01354, LINC01641, LINC01653, LINC01655, LINC01682, LINC01703, LINC01710, LINC01736, LINC01737, LINC01740, LINC01743, LINC01744, LINC01745, LINC02257, LINC02474, LINC02602, LINC02608, LINC02765, LINC02768, LINC02771, LINC02773, LINC02774, LINC02779, LINC02809, LINC02815, LINC02817, LINC02869, LINC02897, LINC02961, LNCATV, LOC100506929, LOC101927143, LOC101927164, LOC101927604, LOC101927787, LOC101928068, LOC105373289, LOC107325941, LOC107325942, LOC107546745, LOC107546746, LOC107546747, LOC107546778, LOC107546780, LOC107548103, LOC107985355, LOC108004528, LOC110120610, LOC110120698, LOC110120807, LOC110121042, LOC110121057, LOC110121205, LOC110121251, LOC110121257, LOC110121263, LOC110121264, LOC110121265, LOC110121266, LOC110121306, LOC110121307, LOC111365197, LOC111365208, LOC111429604, LOC111828504, LOC112577535, LOC112577536, LOC112577537, LOC112577538, LOC112577542, LOC112577543, LOC112577544, LOC112577545, LOC112577546, LOC112577547, LOC112577548, LOC112577552, LOC112577554, LOC112577555, LOC112577556, LOC112577557, LOC112577558, LOC112577559, LOC112577560, LOC112577561, LOC112577565, LOC112577566, LOC112577567, LOC112577568, LOC112577569, LOC113939983, LOC113939984, LOC113939987, LOC115804245, LOC115804246, LOC115804247, LOC115804248, LOC115804249, LOC115804250, LOC115804251, LOC115804252, LOC115804253, LOC115804254, LOC115804255, LOC115804256, LOC120807606, LOC120807610, LOC120908903, LOC120908904, LOC120908905, LOC120908906, LOC120908907, LOC120908908, LOC120908909, LOC120908910, LOC120908911, LOC120908912, LOC120908913, LOC120908914, LOC120908915, LOC120908916, LOC120908917, LOC120908918, LOC120908919, LOC120908920, LOC120908921, LOC120908922, LOC120908923, LOC120947224, LOC121725072, LOC121725073, LOC121725074, LOC121725075, LOC121725076, LOC122149491, LOC122149492, LOC122149493, LOC122149494, LOC122149495, LOC122149496, LOC122149497, LOC122152293, LOC122152294, LOC122152295, LOC122152296, LOC122152297, LOC122152298, LOC122152299, LOC122152300, LOC122152301, LOC122152302, LOC122152303, LOC122152304, LOC122152305, LOC122152306, LOC122152307, LOC122152308, LOC122152309, LOC122152310, LOC122152311, LOC122152312, LOC122152313, LOC122152314, LOC122152315, LOC122152316, LOC122152317, LOC122152318, LOC122152319, LOC122152320, LOC122152321, LOC122152322, LOC122152332, LOC122152333, LOC122152334, LOC122152335, LOC122152336, LOC122152337, LOC122152338, LOC122152339, LOC122152340, LOC122152341, LOC122152342, LOC122152343, LOC122152344, LOC122152345, LOC122152346, LOC122152347, LOC122152348, LOC122152349, LOC122152350, LOC122152351, LOC122152352, LOC122152353, LOC122152354, LOC122152355, LOC122152356, LOC122152357, LOC122152358, LOC122152359, LOC122152360, LOC122152361, LOC122152362, LOC122526782, LOC126264117, LOC126805999, LOC126806000, LOC126806001, LOC126806002, LOC126806003, LOC126806004, LOC126806005, LOC126806006, LOC126806007, LOC126806008, LOC126806009, LOC126806010, LOC126806011, LOC126806012, LOC126806013, LOC126806014, LOC126806015, LOC126806016, LOC126806017, LOC126806018, LOC126806019, LOC126806020, LOC126806021, LOC126806022, LOC126806023, LOC126806024, LOC126806025, LOC126806026, LOC126806027, LOC126806028, LOC126806029, LOC126806030, LOC126806031, LOC126806032, LOC126806033, LOC126806034, LOC126806035, LOC126806036, LOC126806037, LOC126806038, LOC126806039, LOC126806040, LOC126806041, LOC126806042, LOC126806043, LOC126806044, LOC126806045, LOC126806046, LOC126806047, LOC126806048, LOC126806049, LOC126806050, LOC126806051, LOC126806052, LOC126806053, LOC126806054, LOC126806055, LOC126806056, LOC126806057, LOC126806058, LOC126806059, LOC126806060, LOC126806061, LOC126806062, LOC126806063, LOC126806064, LOC126806065, LOC126806066, LOC126806067, LOC126806068, LOC126806069, LOC126806070, LOC126806071, LOC126806072, LOC126806073, LOC126806074, LOC126806075, LOC126806076, LOC126806077, LOC126806078, LOC126806079, LOC126806080, LOC126806081, LOC126806082, LOC126806083, LOC126806084, LOC126806085, LOC126806086, LOC126806087, LOC126806088, LOC126806089, LOC126806090, LOC128598893, LOC128598894, LOC128635606, LOC128635607, LOC128772240, LOC128772241, LOC128772242, LOC128772243, LOC128772244, LOC128772245, LOC440742, LPGAT1, LPGAT1-AS1, LYPD8, LYPLAL1, LYPLAL1-AS1, LYPLAL1-DT, LYST, MAP10, MAP1LC3C, MAP3K21, MARK1, MIA3, MIR1182, MIR1537, MIR194-1, MIR215, MIR3122, MIR3123, MIR3124, MIR320B2, MIR3620, MIR3916, MIR4427, MIR4428, MIR4666A, MIR4671, MIR4677, MIR4742, MIR4753, MIR5008, MIR664A, MIR6741, MIR6742, MIXL1, MRPL55, MT1HL1, MTARC1, MTARC2, MTR, NEK2, NEK2-DT, NENF, NID1, NLRP3, NSL1, NTPCR, NTRAS, NUP133, NUP133-DT, NVL, OBSCN, OBSCN-AS1, OPN3, OR11L1, OR13G1, OR14A16, OR14A2, OR14C36, OR14I1, OR14K1, OR14L1, OR1C1, OR2AJ1, 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, OR2T7, OR2T8, OR2W3, OR6F1, OR9H1P, PACC1, PARP1, PCNX2, PGBD2, PGBD5, PLD5, PPP2R5A, PROX1, PROX1-AS1, PRSS38, PSEN2, PTPN14, PYCR2, RAB3GAP2, RAB4A, RAB4A-AS1, RBM34, RCOR3, RD3, RGS7, RHOU, RNA5S1, RNA5S10, RNA5S11, RNA5S12, RNA5S13, RNA5S14, RNA5S15, RNA5S16, RNA5S17, RNA5S2, RNA5S3, RNA5S4, RNA5S5, RNA5S6, RNA5S7, RNA5S8, RNA5S9, RNF187, RPS6KC1, RRP15, RYR2, SCCPDH, SDCCAG8, SDE2, SERTAD4, SERTAD4-AS1, SH3BP5L, SIPA1L2, SLC30A1, SLC30A10, SLC35F3, SLC35F3-AS1, SMYD2, SMYD3, SMYD3-AS1, SNAP47, SNORA100, SNORA14B, SNORA16B, SNORA36B, SPATA17, SPATA17-AS1, SPATA45, SPHAR, SPMIP3, SPRTN, SRP9, STUM, SUSD4, SYT14, TAF1A, TAF1A-AS1, TAF5L, TARBP1, TATDN3, TBCE, TFB2M, TGFB2, TGFB2-AS1, TGFB2-OT1, TLR5, TMEM63A, TMEM78, TOMM20, TP53BP2, TRAF3IP3, TRAF5, TRE-CTC2-1, TRIM11, TRIM17, TRIM58, TRIM67, TRIM67-AS1, TRL-CAA4-1, TRT-TGT2-1, TSNAX, TSNAX-DISC1, TTC13, URB2, USH2A, USH2A-AS1, USH2A-AS2, UTP25, VASH2, VN1R5, WDR26, WDR64, WNT3A, WNT9A, ZBTB18, ZC3H11B, ZNF124, ZNF496, ZNF496-DT, ZNF669, ZNF670, ZNF670-ZNF695, ZNF672, ZNF678, ZNF692, ZNF695, ZP4 | | See cases | Pathogenic (Aug 12, 2011) | criteria provided, single submitter |
| - GRCh37:
- Chr1:210136970-249212668
- GRCh38:
- Chr1:209963625-248918469
| ABCB10, ACBD3, ACBD3-AS1, ACTA1, ACTN2, ADSS2, AGT, AHCTF1, AIDA, AKT3, AKT3-IT1, ANGEL2, ARF1, ARID4B, ARV1, ATF3, B3GALNT2, BATF3, BECN2, BPNT1, BROX, BTNL10, C1orf115, C1orf131, C1orf198, C1orf202, C1orf35, CAPN2, CAPN8, CAPN9, CATSPERE, CCDC185, CCSAP, CDC42BPA, CENPF, CEP170, CHML, CHRM3, CHRM3-AS1, CHRM3-AS2, CNIH3, CNIH3-AS1, CNIH3-AS2, CNIH4, CNST, COA6, COA6-AS1, COG2, COQ8A, COX20, DEGS1, DESI2, DISC1, DISC1-IT1, DISC2, DISP1, DNAH14, DTL, DUSP10, EDARADD, EFCAB2, EGLN1, ENAH, EPHX1, EPRS1, ERO1B, ESRRG, EXO1, EXOC8, FAM177B, FAM89A, FBXO28, FH, FLJ39095, FLVCR1, FLVCR1-DT, FMN2, GALNT2, GARIN4, GCSAML, GCSAML-AS1, GGPS1, GJC2, GNG4, GNPAT, GPATCH2, GPR137B, GREM2, GUK1, H2AC25, H2BC26, H3-3A, H3-3A-DT, H3-4, HEATR1, HHAT, HHIPL2, HLX, HLX-AS1, HNRNPU, IARS2, IBA57, IBA57-DT, INTS7, IRF2BP2, ITPKB, ITPKB-IT1, JMJD4, KCNH1, KCNH1-IT1, KCNK1, KCNK2, KCTD3, KIF26B, KIF26B-AS1, KMO, LBR, LEFTY1, LEFTY2, LGALS8, LGALS8-AS1, LIN9, LINC00184, LINC00210, LINC00467, LINC00538, LINC00582, LINC01132, LINC01139, LINC01341, LINC01347, LINC01348, LINC01352, LINC01354, LINC01641, LINC01653, LINC01655, LINC01682, LINC01703, LINC01710, LINC01736, LINC01737, LINC01740, LINC01743, LINC01744, LINC01745, LINC02257, LINC02474, LINC02602, LINC02608, LINC02765, LINC02768, LINC02771, LINC02773, LINC02774, LINC02779, LINC02809, LINC02815, LINC02817, LINC02869, LINC02897, LINC02961, LNCATV, LOC100506929, LOC101927143, LOC101927164, LOC101927604, LOC101927787, LOC101928068, LOC105373289, LOC107325941, LOC107325942, LOC107546745, LOC107546746, LOC107546747, LOC107546778, LOC107546780, LOC107548103, LOC107985355, LOC108004528, LOC110120610, LOC110120698, LOC110121042, LOC110121057, LOC110121205, LOC110121251, LOC110121257, LOC110121263, LOC110121264, LOC110121265, LOC110121266, LOC110121306, LOC110121307, LOC111365197, LOC111365208, LOC111429604, LOC111828504, LOC112577535, LOC112577536, LOC112577537, LOC112577538, LOC112577542, LOC112577543, LOC112577544, LOC112577545, LOC112577546, LOC112577547, LOC112577548, LOC112577552, LOC112577554, LOC112577555, LOC112577556, LOC112577557, LOC112577558, LOC112577559, LOC112577560, LOC112577561, LOC112577565, LOC112577566, LOC112577567, LOC112577568, LOC112577569, LOC113939984, LOC113939987, LOC115804245, LOC115804246, LOC115804247, LOC115804248, LOC115804249, LOC115804250, LOC115804251, LOC115804252, LOC115804253, LOC115804254, LOC115804255, LOC115804256, LOC120807606, LOC120807610, LOC120908904, LOC120908905, LOC120908906, LOC120908907, LOC120908908, LOC120908909, LOC120908910, LOC120908911, LOC120908912, LOC120908913, LOC120908914, LOC120908915, LOC120908916, LOC120908917, LOC120908918, LOC120908919, LOC120908920, LOC120908921, LOC120908922, LOC120908923, LOC120947224, LOC121725072, LOC121725073, LOC121725074, LOC121725075, LOC121725076, LOC122149491, LOC122149492, LOC122149493, LOC122149494, LOC122149495, LOC122149496, LOC122149497, LOC122152293, LOC122152294, LOC122152295, LOC122152296, LOC122152297, LOC122152298, LOC122152299, LOC122152300, LOC122152301, LOC122152302, LOC122152303, LOC122152304, LOC122152305, LOC122152306, LOC122152307, LOC122152308, LOC122152309, LOC122152310, LOC122152311, LOC122152312, LOC122152313, LOC122152314, LOC122152315, LOC122152316, LOC122152317, LOC122152318, LOC122152319, LOC122152320, LOC122152321, LOC122152322, LOC122152332, LOC122152333, LOC122152334, LOC122152335, LOC122152336, LOC122152337, LOC122152338, LOC122152339, LOC122152340, LOC122152341, LOC122152342, LOC122152343, LOC122152344, LOC122152345, LOC122152346, LOC122152347, LOC122152348, LOC122152349, LOC122152350, LOC122152351, LOC122152352, LOC122152353, LOC122152354, LOC122152355, LOC122152356, LOC122152357, LOC122152358, LOC122152359, LOC122152360, LOC122152361, LOC122152362, LOC122526782, LOC126264117, LOC126806002, LOC126806003, LOC126806004, LOC126806005, LOC126806006, LOC126806007, LOC126806008, LOC126806009, LOC126806010, LOC126806011, LOC126806012, LOC126806013, LOC126806014, LOC126806015, LOC126806016, LOC126806017, LOC126806018, LOC126806019, LOC126806020, LOC126806021, LOC126806022, LOC126806023, LOC126806024, LOC126806025, LOC126806026, LOC126806027, LOC126806028, LOC126806029, LOC126806030, LOC126806031, LOC126806032, LOC126806033, LOC126806034, LOC126806035, LOC126806036, LOC126806037, LOC126806038, LOC126806039, LOC126806040, LOC126806041, LOC126806042, LOC126806043, LOC126806044, LOC126806045, LOC126806046, LOC126806047, LOC126806048, LOC126806049, LOC126806050, LOC126806051, LOC126806052, LOC126806053, LOC126806054, LOC126806055, LOC126806056, LOC126806057, LOC126806058, LOC126806059, LOC126806060, LOC126806061, LOC126806062, LOC126806063, LOC126806064, LOC126806065, LOC126806066, LOC126806067, LOC126806068, LOC126806069, LOC126806070, LOC126806071, LOC126806072, LOC126806073, LOC126806074, LOC126806075, LOC126806076, LOC126806077, LOC126806078, LOC126806079, LOC126806080, LOC126806081, LOC126806082, LOC126806083, LOC126806084, LOC126806085, LOC126806086, LOC126806087, LOC126806088, LOC126806089, LOC126806090, LOC128598893, LOC128598894, LOC128635606, LOC128635607, LOC128772240, LOC128772241, LOC128772242, LOC128772243, LOC128772244, LOC128772245, LOC440742, LPGAT1, LPGAT1-AS1, LYPD8, LYPLAL1, LYPLAL1-AS1, LYPLAL1-DT, LYST, MAP10, MAP1LC3C, MAP3K21, MARK1, MIA3, MIR1182, MIR1537, MIR194-1, MIR215, MIR3122, MIR3123, MIR3124, MIR320B2, MIR3620, MIR3916, MIR4427, MIR4428, MIR4666A, MIR4671, MIR4677, MIR4742, MIR4753, MIR5008, MIR664A, MIR6741, MIR6742, MIXL1, MRPL55, MT1HL1, MTARC1, MTARC2, MTR, NEK2, NEK2-DT, NENF, NID1, NLRP3, NSL1, NTPCR, NTRAS, NUP133, NUP133-DT, NVL, OBSCN, OBSCN-AS1, OPN3, OR11L1, OR13G1, OR14A16, OR14A2, OR14C36, OR14I1, OR14K1, OR14L1, OR1C1, OR2AJ1, 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, OR2T7, OR2T8, OR2W3, OR6F1, OR9H1P, PACC1, PARP1, PCNX2, PGBD2, PGBD5, PLD5, PPP2R5A, PROX1, PROX1-AS1, PRSS38, PSEN2, PTPN14, PYCR2, RAB3GAP2, RAB4A, RAB4A-AS1, RBM34, RCOR3, RD3, RGS7, RHOU, RNA5S1, RNA5S10, RNA5S11, RNA5S12, RNA5S13, RNA5S14, RNA5S15, RNA5S16, RNA5S17, RNA5S2, RNA5S3, RNA5S4, RNA5S5, RNA5S6, RNA5S7, RNA5S8, RNA5S9, RNF187, RPS6KC1, RRP15, RYR2, SCCPDH, SDCCAG8, SDE2, SERTAD4, SERTAD4-AS1, SH3BP5L, SIPA1L2, SLC30A1, SLC30A10, SLC35F3, SLC35F3-AS1, SMYD2, SMYD3, SMYD3-AS1, SNAP47, SNORA100, SNORA14B, SNORA16B, SNORA36B, SPATA17, SPATA17-AS1, SPATA45, SPHAR, SPMIP3, SPRTN, SRP9, STUM, SUSD4, SYT14, TAF1A, TAF1A-AS1, TAF5L, TARBP1, TATDN3, TBCE, TFB2M, TGFB2, TGFB2-AS1, TGFB2-OT1, TLR5, TMEM63A, TMEM78, TOMM20, TP53BP2, TRAF5, TRE-CTC2-1, TRIM11, TRIM17, TRIM58, TRIM67, TRIM67-AS1, TRL-CAA4-1, TRT-TGT2-1, TSNAX, TSNAX-DISC1, TTC13, URB2, USH2A, USH2A-AS1, USH2A-AS2, VASH2, VN1R5, WDR26, WDR64, WNT3A, WNT9A, ZBTB18, ZC3H11B, ZNF124, ZNF496, ZNF496-DT, ZNF669, ZNF670, ZNF670-ZNF695, ZNF672, ZNF678, ZNF692, ZNF695, ZP4 | | See cases | Pathogenic (Jan 5, 2011) | no assertion criteria provided |
| - GRCh37:
- Chr1:214197155-249212668
- GRCh38:
- Chr1:214023812-248918469
| LINC01743, LINC01744, LINC01745, LINC02257, LINC02474, LINC02765, LINC02768, LINC02774, LINC02779, LINC02809, LINC02815, LINC02817, LINC02869, LINC02897, LINC02961, LNCATV, LOC100506929, LOC101927143, LOC101927164, LOC101927604, LOC101927787, LOC101928068, LOC105373289, LOC107325941, LOC107325942, LOC107546745, LOC107546746, LOC107546747, LOC107546778, LOC107546780, LOC107548103, LOC107985355, LOC108004528, LOC110120698, LOC110121042, LOC110121205, LOC110121251, LOC110121263, LOC110121264, LOC110121265, LOC110121266, LOC110121306, LOC110121307, LOC111365197, LOC111365208, LOC111429604, LOC111828504, LOC112577543, LOC112577544, LOC112577545, LOC112577546, LOC112577547, LOC112577548, LOC112577552, LOC112577554, LOC112577555, LOC112577556, LOC112577557, LOC112577558, LOC112577559, LOC112577560, LOC112577561, LOC112577565, LOC112577566, LOC112577567, LOC112577568, LOC112577569, LOC113939987, LOC115804247, LOC115804248, LOC115804249, LOC115804250, LOC115804251, LOC115804252, LOC115804253, LOC115804254, LOC115804255, LOC115804256, LOC120807606, LOC120807610, LOC120908907, LOC120908908, LOC120908909, LOC120908910, LOC120908911, LOC120908912, LOC120908913, LOC120908914, LOC120908915, LOC120908916, LOC120908917, LOC120908918, LOC120908919, LOC120908920, LOC120908921, LOC120908922, LOC120908923, LOC120947224, LOC121725074, LOC121725075, LOC121725076, LOC122152294, LOC122152295, LOC122152296, LOC122152297, LOC122152298, LOC122152299, LOC122152300, LOC122152301, LOC122152302, LOC122152303, LOC122152304, LOC122152305, LOC122152306, LOC122152307, LOC122152308, LOC122152309, LOC122152310, LOC122152311, LOC122152312, LOC122152313, LOC122152314, LOC122152315, LOC122152316, LOC122152317, LOC122152318, LOC122152319, LOC122152320, LOC122152321, LOC122152322, LOC122152332, LOC122152333, LOC122152334, LOC122152335, LOC122152336, LOC122152337, LOC122152338, LOC122152339, LOC122152340, LOC122152341, LOC122152342, LOC122152343, LOC122152344, LOC122152345, LOC122152346, LOC122152347, LOC122152348, LOC122152349, LOC122152350, LOC122152351, LOC122152352, LOC122152353, LOC122152354, LOC122152355, LOC122152356, LOC122152357, LOC122152358, LOC122152359, LOC122152360, LOC122152361, LOC122152362, LOC122526782, LOC126264117, LOC126806005, LOC126806006, LOC126806007, LOC126806008, LOC126806009, LOC126806010, LOC126806011, LOC126806012, LOC126806013, LOC126806014, LOC126806015, LOC126806016, LOC126806017, LOC126806018, LOC126806019, LOC126806020, LOC126806021, LOC126806022, LOC126806023, LOC126806024, LOC126806025, LOC126806026, LOC126806027, LOC126806028, LOC126806029, LOC126806030, LOC126806031, LOC126806032, LOC126806033, LOC126806034, LOC126806035, LOC126806036, LOC126806037, LOC126806038, LOC126806039, LOC126806040, LOC126806041, LOC126806042, LOC126806043, LOC126806044, LOC126806045, LOC126806046, LOC126806047, LOC126806048, LOC126806049, LOC126806050, LOC126806051, LOC126806052, LOC126806053, LOC126806054, LOC126806055, LOC126806056, LOC126806057, LOC126806058, LOC126806059, LOC126806060, LOC126806061, LOC126806062, LOC126806063, LOC126806064, LOC126806065, LOC126806066, LOC126806067, LOC126806068, LOC126806069, LOC126806070, LOC126806071, LOC126806072, LOC126806073, LOC126806074, LOC126806075, LOC126806076, LOC126806077, LOC126806078, LOC126806079, LOC126806080, LOC126806081, LOC126806082, LOC126806083, LOC126806084, LOC126806085, LOC126806086, LOC126806087, LOC126806088, LOC126806089, LOC126806090, LOC128598893, LOC128598894, LOC128635606, LOC128635607, LOC128772240, LOC128772241, LOC128772242, LOC128772243, LOC128772244, LOC128772245, LOC440742, LYPD8, LYPLAL1, LYPLAL1-AS1, LYPLAL1-DT, LYST, MAP10, MAP1LC3C, MAP3K21, MARK1, MIA3, MIR1182, MIR1537, MIR194-1, MIR215, MIR3123, MIR3124, MIR320B2, MIR3620, MIR3916, MIR4427, MIR4428, MIR4666A, MIR4671, MIR4677, MIR4742, MIR4753, MIR5008, MIR664A, MIR6741, MIR6742, MIXL1, MRPL55, MT1HL1, MTARC1, MTARC2, MTR, NID1, NLRP3, NTPCR, NUP133, NUP133-DT, NVL, OBSCN, OBSCN-AS1, OPN3, OR11L1, OR13G1, OR14A16, OR14A2, OR14C36, OR14I1, OR14K1, OR14L1, OR1C1, OR2AJ1, 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, OR2T7, OR2T8, OR2W3, OR6F1, OR9H1P, PARP1, PCNX2, PGBD2, PGBD5, PLD5, PROX1, PRSS38, PSEN2, PTPN14, PYCR2, RAB3GAP2, RAB4A, RAB4A-AS1, RBM34, RGS7, RHOU, RNA5S1, RNA5S10, RNA5S11, RNA5S12, RNA5S13, RNA5S14, RNA5S15, RNA5S16, RNA5S17, RNA5S2, RNA5S3, RNA5S4, RNA5S5, RNA5S6, RNA5S7, RNA5S8, RNA5S9, RNF187, RRP15, RYR2, SCCPDH, SDCCAG8, SDE2, SH3BP5L, SIPA1L2, SLC30A10, SLC35F3, SLC35F3-AS1, SMYD2, SMYD3, SMYD3-AS1, SNAP47, SNORA100, SNORA14B, SNORA36B, SPATA17, SPATA17-AS1, SPHAR, SPMIP3, SPRTN, SRP9, STUM, SUSD4, TAF1A, TAF1A-AS1, TAF5L, TARBP1, TBCE, TFB2M, TGFB2, TGFB2-AS1, TGFB2-OT1, TLR5, TMEM63A, TMEM78, TOMM20, TP53BP2, TRE-CTC2-1, TRIM11, TRIM17, TRIM58, TRIM67, TRIM67-AS1, TRL-CAA4-1, TRT-TGT2-1, TSNAX, TSNAX-DISC1, TTC13, URB2, USH2A, USH2A-AS1, USH2A-AS2, VN1R5, WDR26, WDR64, WNT3A, WNT9A, ZBTB18, ZC3H11B, ZNF124, ZNF496, ZNF496-DT, ZNF669, ZNF670, ZNF670-ZNF695, ZNF672, ZNF678, ZNF692, ZNF695, ZP4, ABCB10, ACBD3, ACBD3-AS1, ACTA1, ACTN2, ADSS2, AGT, AHCTF1, AIDA, AKT3, AKT3-IT1, ARF1, ARID4B, ARV1, B3GALNT2, BECN2, BPNT1, BROX, BTNL10, C1orf115, C1orf131, C1orf198, C1orf202, C1orf35, CAPN2, CAPN8, CAPN9, CATSPERE, CCDC185, CCSAP, CDC42BPA, CENPF, CEP170, CHML, CHRM3, CHRM3-AS1, CHRM3-AS2, CNIH3, CNIH3-AS1, CNIH3-AS2, CNIH4, CNST, COA6, COA6-AS1, COG2, COQ8A, COX20, DEGS1, DESI2, DISC1, DISC1-IT1, DISC2, DISP1, DNAH14, DUSP10, EDARADD, EFCAB2, EGLN1, ENAH, EPHX1, EPRS1, ERO1B, ESRRG, EXO1, EXOC8, FAM177B, FAM89A, FBXO28, FH, FLJ39095, FMN2, GALNT2, GCSAML, GCSAML-AS1, GGPS1, GJC2, GNG4, GNPAT, GPATCH2, GPR137B, GREM2, GUK1, H2AC25, H2BC26, H3-3A, H3-3A-DT, H3-4, HEATR1, HHIPL2, HLX, HLX-AS1, HNRNPU, IARS2, IBA57, IBA57-DT, IRF2BP2, ITPKB, ITPKB-IT1, JMJD4, KCNK1, KCNK2, KCTD3, KIF26B, KIF26B-AS1, KMO, LBR, LEFTY1, LEFTY2, LGALS8, LGALS8-AS1, LIN9, LINC00184, LINC00210, LINC00582, LINC01132, LINC01139, LINC01341, LINC01347, LINC01348, LINC01352, LINC01354, LINC01641, LINC01653, LINC01655, LINC01682, LINC01703, LINC01710, LINC01736, LINC01737 | | See cases | Pathogenic (Aug 12, 2011) | criteria provided, single submitter |
| - GRCh37:
- Chr1:223521035-249212668
- GRCh38:
- Chr1:223347693-248918469
| LEFTY2, LGALS8, LGALS8-AS1, LIN9, LINC00184, LEFTY1, KIF26B-AS1, KMO, LBR, JMJD4, KCNK1, KIF26B, LINC00582, LINC01132, LINC01139, LINC01341, LINC01347, LINC01348, LINC01354, LINC01641, LINC01682, LINC01703, LINC01736, LINC01737, LINC01743, LINC01744, LINC01745, LINC02765, LINC02768, LINC02774, LINC02809, LINC02815, LINC02897, LINC02961, LNCATV, LOC100506929, LOC101927143, LOC101927164, LOC101927604, LOC101927787, LOC101928068, LOC105373289, LOC107546745, LOC107546746, LOC107546747, LOC107546778, LOC107546780, LOC107548103, LOC107985355, LOC108004528, LOC110120698, LOC110121205, LOC110121251, LOC110121263, LOC110121264, LOC110121265, LOC110121266, LOC110121307, LOC111365197, LOC111365208, LOC111828504, LOC112577543, LOC112577544, LOC112577545, LOC112577546, LOC112577547, LOC112577548, LOC112577552, LOC112577554, LOC112577555, LOC112577556, LOC112577557, LOC112577558, LOC112577559, LOC112577560, LOC112577561, LOC112577565, LOC112577566, LOC112577567, LOC112577568, LOC112577569, LOC113939987, LOC115804247, LOC115804248, LOC115804249, LOC115804250, LOC115804251, LOC115804252, LOC115804253, LOC115804254, LOC115804255, LOC115804256, LOC120807606, LOC120908911, LOC120908912, LOC120908913, LOC120908914, LOC120908915, LOC120908916, LOC120908917, LOC120908918, LOC120908919, LOC120908920, LOC120908921, LOC120908922, LOC120908923, LOC120947224, LOC121725075, LOC121725076, LOC122152305, LOC122152306, LOC122152307, LOC122152308, LOC122152309, LOC122152310, LOC122152311, LOC122152312, LOC122152313, LOC122152314, LOC122152315, LOC122152316, LOC122152317, LOC122152318, LOC122152319, LOC122152320, LOC122152321, LOC122152322, LOC122152332, LOC122152333, LOC122152334, LOC122152335, LOC122152336, LOC122152337, LOC122152338, LOC122152339, LOC122152340, LOC122152341, LOC122152342, LOC122152343, LOC122152344, LOC122152345, LOC122152346, LOC122152347, LOC122152348, LOC122152349, LOC122152350, LOC122152351, LOC122152352, LOC122152353, LOC122152354, LOC122152355, LOC122152356, LOC122152357, LOC122152358, LOC122152359, LOC122152360, LOC122152361, LOC122152362, LOC122526782, LOC126264117, LOC126806026, LOC126806027, LOC126806028, LOC126806029, LOC126806030, LOC126806031, LOC126806032, LOC126806033, LOC126806034, LOC126806035, LOC126806036, LOC126806037, LOC126806038, LOC126806039, LOC126806040, LOC126806041, LOC126806042, LOC126806043, LOC126806044, LOC126806045, LOC126806046, LOC126806047, LOC126806048, LOC126806049, LOC126806050, LOC126806051, LOC126806052, LOC126806053, LOC126806054, LOC126806055, LOC126806056, LOC126806057, LOC126806058, LOC126806059, LOC126806060, LOC126806061, LOC126806062, LOC126806063, LOC126806064, LOC126806065, LOC126806066, LOC126806067, LOC126806068, LOC126806069, LOC126806070, LOC126806071, LOC126806072, LOC126806073, LOC126806074, LOC126806075, LOC126806076, LOC126806077, LOC126806078, LOC126806079, LOC126806080, LOC126806081, LOC126806082, LOC126806083, LOC126806084, LOC126806085, LOC126806086, LOC126806087, LOC126806088, LOC126806089, LOC126806090, LOC128598893, LOC128598894, LOC128635606, LOC128635607, LOC128772240, LOC128772241, LOC128772242, LOC128772243, LOC128772244, LOC128772245, LOC440742, LYPD8, LYST, MAP10, MAP1LC3C, MAP3K21, MIR1182, MIR1537, MIR3123, MIR3124, MIR320B2, MIR3620, MIR3916, MIR4427, MIR4428, MIR4666A, MIR4671, MIR4677, MIR4742, MIR4753, MIR5008, MIR6741, MIR6742, MIXL1, MRPL55, MT1HL1, MTR, NID1, NLRP3, NTPCR, NUP133, NUP133-DT, NVL, OBSCN, OBSCN-AS1, OPN3, OR11L1, OR13G1, OR14A16, OR14A2, OR14C36, OR14I1, OR14K1, OR14L1, OR1C1, OR2AJ1, 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, OR2T7, OR2T8, OR2W3, OR6F1, OR9H1P, PARP1, PCNX2, PGBD2, PGBD5, PLD5, PRSS38, PSEN2, PYCR2, RAB4A, RAB4A-AS1, RBM34, RGS7, RHOU, RNA5S1, RNA5S10, RNA5S11, RNA5S12, RNA5S13, RNA5S14, RNA5S15, RNA5S16, RNA5S17, RNA5S2, RNA5S3, RNA5S4, RNA5S5, RNA5S6, RNA5S7, RNA5S8, RNA5S9, RNF187, RYR2, SCCPDH, SDCCAG8, SDE2, SH3BP5L, SIPA1L2, SLC35F3, SLC35F3-AS1, SMYD3, SMYD3-AS1, SNAP47, SNORA100, SNORA14B, SPHAR, SPMIP3, SPRTN, SRP9, STUM, SUSD4, TAF5L, TARBP1, TBCE, TFB2M, TMEM63A, TMEM78, TOMM20, TP53BP2, TRE-CTC2-1, TRIM11, TRIM17, TRIM58, TRIM67, TRIM67-AS1, TRL-CAA4-1, TSNAX, TSNAX-DISC1, TTC13, URB2, VN1R5, WDR26, WDR64, WNT3A, WNT9A, ZBTB18, ZNF124, ZNF496, ZNF496-DT, ZNF669, ZNF670, ZNF670-ZNF695, ZNF672, ZNF678, ZNF692, ZNF695, ZP4, ABCB10, ACBD3, ACBD3-AS1, ACTA1, ACTN2, ADSS2, AGT, AHCTF1, AKT3, AKT3-IT1, ARF1, ARID4B, ARV1, B3GALNT2, BECN2, BTNL10, C1orf131, C1orf198, C1orf202, C1orf35, CAPN2, CAPN8, CAPN9, CATSPERE, CCDC185, CCSAP, CDC42BPA, CEP170, CHML, CHRM3, CHRM3-AS1, CHRM3-AS2, CNIH3, CNIH3-AS1, CNIH3-AS2, CNIH4, CNST, COA6, COA6-AS1, COG2, COQ8A, COX20, DEGS1, DESI2, DISC1, DISC1-IT1, DISC2, DNAH14, EDARADD, EFCAB2, EGLN1, ENAH, EPHX1, ERO1B, EXO1, EXOC8, FAM89A, FBXO28, FH, FLJ39095, FMN2, GALNT2, GCSAML, GCSAML-AS1, GGPS1, GJC2, GNG4, GNPAT, GPR137B, GREM2, GUK1, H2AC25, H2BC26, H3-3A, H3-3A-DT, H3-4, HEATR1, HNRNPU, IBA57, IBA57-DT, IRF2BP2, ITPKB, ITPKB-IT1 | | See cases | Pathogenic (Aug 12, 2011) | criteria provided, single submitter |
| - GRCh37:
- Chr1:224002849-249212668
- GRCh38:
- Chr1:223815147-248918469
| ABCB10, ACBD3, ACBD3-AS1, ACTA1, ACTN2, ADSS2, AGT, AHCTF1, AKT3, AKT3-IT1, ARF1, ARID4B, ARV1, B3GALNT2, BECN2, BTNL10, C1orf131, C1orf198, C1orf202, C1orf35, CAPN9, CATSPERE, CCSAP, CDC42BPA, CEP170, CHML, CHRM3, CHRM3-AS1, CHRM3-AS2, CNIH3, CNIH3-AS1, CNIH3-AS2, CNIH4, CNST, COA6, COA6-AS1, COG2, COQ8A, COX20, DEGS1, DESI2, DISC1, DISC1-IT1, DISC2, DNAH14, EDARADD, EFCAB2, EGLN1, ENAH, EPHX1, ERO1B, EXO1, EXOC8, FAM89A, FBXO28, FH, FLJ39095, FMN2, GALNT2, GCSAML, GCSAML-AS1, GGPS1, GJC2, GNG4, GNPAT, GPR137B, GREM2, GUK1, H2AC25, H2BC26, H3-3A, H3-3A-DT, H3-4, HEATR1, HNRNPU, IBA57, IBA57-DT, IRF2BP2, ITPKB, ITPKB-IT1, JMJD4, KCNK1, KIF26B, KIF26B-AS1, KMO, LBR, LEFTY1, LEFTY2, LGALS8, LGALS8-AS1, LIN9, LINC00184, LINC00582, LINC01132, LINC01139, LINC01341, LINC01347, LINC01348, LINC01354, LINC01641, LINC01682, LINC01703, LINC01736, LINC01737, LINC01743, LINC01744, LINC01745, LINC02765, LINC02768, LINC02774, LINC02809, LINC02815, LINC02897, LINC02961, LNCATV, LOC100506929, LOC101927143, LOC101927164, LOC101927604, LOC101927787, LOC101928068, LOC105373289, LOC107546745, LOC107546746, LOC107546747, LOC107546778, LOC107546780, LOC107548103, LOC107985355, LOC108004528, LOC110120698, LOC110121205, LOC110121251, LOC110121263, LOC110121264, LOC110121265, LOC110121266, LOC110121307, LOC111365197, LOC111365208, LOC111828504, LOC112577543, LOC112577544, LOC112577545, LOC112577546, LOC112577547, LOC112577548, LOC112577552, LOC112577554, LOC112577555, LOC112577556, LOC112577557, LOC112577558, LOC112577559, LOC112577560, LOC112577561, LOC112577565, LOC112577566, LOC112577567, LOC112577568, LOC112577569, LOC113939987, LOC115804247, LOC115804248, LOC115804249, LOC115804250, LOC115804251, LOC115804252, LOC115804253, LOC115804254, LOC115804255, LOC115804256, LOC120807606, LOC120908911, LOC120908912, LOC120908913, LOC120908914, LOC120908915, LOC120908916, LOC120908917, LOC120908918, LOC120908919, LOC120908920, LOC120908921, LOC120908922, LOC120908923, LOC120947224, LOC121725075, LOC121725076, LOC122152307, LOC122152308, LOC122152309, LOC122152310, LOC122152311, LOC122152312, LOC122152313, LOC122152314, LOC122152315, LOC122152316, LOC122152317, LOC122152318, LOC122152319, LOC122152320, LOC122152321, LOC122152322, LOC122152332, LOC122152333, LOC122152334, LOC122152335, LOC122152336, LOC122152337, LOC122152338, LOC122152339, LOC122152340, LOC122152341, LOC122152342, LOC122152343, LOC122152344, LOC122152345, LOC122152346, LOC122152347, LOC122152348, LOC122152349, LOC122152350, LOC122152351, LOC122152352, LOC122152353, LOC122152354, LOC122152355, LOC122152356, LOC122152357, LOC122152358, LOC122152359, LOC122152360, LOC122152361, LOC122152362, LOC122526782, LOC126264117, LOC126806029, LOC126806030, LOC126806031, LOC126806032, LOC126806033, LOC126806034, LOC126806035, LOC126806036, LOC126806037, LOC126806038, LOC126806039, LOC126806040, LOC126806041, LOC126806042, LOC126806043, LOC126806044, LOC126806045, LOC126806046, LOC126806047, LOC126806048, LOC126806049, LOC126806050, LOC126806051, LOC126806052, LOC126806053, LOC126806054, LOC126806055, LOC126806056, LOC126806057, LOC126806058, LOC126806059, LOC126806060, LOC126806061, LOC126806062, LOC126806063, LOC126806064, LOC126806065, LOC126806066, LOC126806067, LOC126806068, LOC126806069, LOC126806070, LOC126806071, LOC126806072, LOC126806073, LOC126806074, LOC126806075, LOC126806076, LOC126806077, LOC126806078, LOC126806079, LOC126806080, LOC126806081, LOC126806082, LOC126806083, LOC126806084, LOC126806085, LOC126806086, LOC126806087, LOC126806088, LOC126806089, LOC126806090, LOC128598893, LOC128598894, LOC128635606, LOC128635607, LOC128772240, LOC128772241, LOC128772242, LOC128772243, LOC128772244, LOC128772245, LOC440742, LYPD8, LYST, MAP10, MAP1LC3C, MAP3K21, MIR1182, MIR1537, MIR3123, MIR3124, MIR320B2, MIR3620, MIR3916, MIR4427, MIR4428, MIR4666A, MIR4671, MIR4677, MIR4742, MIR4753, MIR5008, MIR6741, MIR6742, MIXL1, MRPL55, MT1HL1, MTR, NID1, NLRP3, NTPCR, NUP133, NUP133-DT, NVL, OBSCN, OBSCN-AS1, OPN3, OR11L1, OR13G1, OR14A16, OR14A2, OR14C36, OR14I1, OR14K1, OR14L1, OR1C1, OR2AJ1, 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, OR2T7, OR2T8, OR2W3, OR6F1, OR9H1P, PARP1, PCNX2, PGBD2, PGBD5, PLD5, PRSS38, PSEN2, PYCR2, RAB4A, RAB4A-AS1, RBM34, RGS7, RHOU, RNA5S1, RNA5S10, RNA5S11, RNA5S12, RNA5S13, RNA5S14, RNA5S15, RNA5S16, RNA5S17, RNA5S2, RNA5S3, RNA5S4, RNA5S5, RNA5S6, RNA5S7, RNA5S8, RNA5S9, RNF187, RYR2, SCCPDH, SDCCAG8, SDE2, SH3BP5L, SIPA1L2, SLC35F3, SLC35F3-AS1, SMYD3, SMYD3-AS1, SNAP47, SNORA100, SNORA14B, SPHAR, SPMIP3, SPRTN, SRP9, STUM, TAF5L, TARBP1, TBCE, TFB2M, TMEM63A, TMEM78, TOMM20, TP53BP2, TRE-CTC2-1, TRIM11, TRIM17, TRIM58, TRIM67, TRIM67-AS1, TRL-CAA4-1, TSNAX, TSNAX-DISC1, TTC13, URB2, VN1R5, WDR26, WDR64, WNT3A, WNT9A, ZBTB18, ZNF124, ZNF496, ZNF496-DT, ZNF669, ZNF670, ZNF670-ZNF695, ZNF672, ZNF678, ZNF692, ZNF695, ZP4 | | See cases | Pathogenic (Oct 19, 2010) | no assertion criteria provided |
| - GRCh37:
- Chr1:224016202-249185508
- GRCh38:
- Chr1:223828500-248891309
| LOC126806032, LOC126806033, LOC126806034, LOC126806035, LOC126806036, LOC126806037, LOC126806038, LOC126806039, LOC126806040, LOC126806041, LOC126806042, LOC126806043, LOC126806044, LOC126806045, LOC126806046, LOC126806047, LOC126806048, LOC126806049, LOC126806050, LOC126806051, LOC126806052, LOC126806053, LOC126806054, LOC126806055, LOC126806056, LOC126806057, LOC126806058, LOC126806059, LOC126806060, LOC126806061, LOC126806062, LOC126806063, LOC126806064, LOC126806065, LOC126806066, LOC126806067, LOC126806068, LOC126806069, LOC126806070, LOC126806071, LOC126806072, LOC126806073, LOC126806074, LOC126806075, LOC126806076, LOC126806077, LOC126806078, LOC126806079, LOC126806080, LOC126806081, LOC126806082, LOC126806083, LOC126806084, LOC126806085, LOC126806086, LOC126806087, LOC126806088, LOC126806089, LOC126806090, LOC128598893, LOC128598894, LOC128635606, LOC128635607, LOC128772240, LOC128772241, LOC128772242, LOC128772243, LOC128772244, LOC128772245, LOC440742, LYPD8, LYST, MAP10, MAP1LC3C, MAP3K21, MIR1182, MIR1537, MIR3123, MIR3124, MIR320B2, MIR3620, MIR3916, MIR4427, MIR4428, MIR4666A, MIR4671, MIR4677, MIR4742, MIR4753, MIR5008, MIR6741, MIR6742, MIXL1, MRPL55, MT1HL1, MTR, NID1, NLRP3, NTPCR, NUP133, NUP133-DT, NVL, OBSCN, OBSCN-AS1, OPN3, OR11L1, OR13G1, OR14A16, OR14A2, OR14C36, OR14I1, OR14K1, OR14L1, OR1C1, OR2AJ1, 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, OR2T7, OR2T8, OR2W3, OR6F1, OR9H1P, PARP1, PCNX2, PGBD2, PGBD5, PLD5, PRSS38, PSEN2, PYCR2, RAB4A, RAB4A-AS1, RBM34, RGS7, RHOU, RNA5S1, RNA5S10, RNA5S11, RNA5S12, RNA5S13, RNA5S14, RNA5S15, RNA5S16, RNA5S17, RNA5S2, RNA5S3, RNA5S4, RNA5S5, RNA5S6, RNA5S7, RNA5S8, RNA5S9, RNF187, RYR2, SCCPDH, SDCCAG8, SDE2, SH3BP5L, SIPA1L2, SLC35F3, SLC35F3-AS1, SMYD3, SMYD3-AS1, SNAP47, SNORA100, SNORA14B, SPHAR, SPMIP3, SPRTN, SRP9, STUM, TAF5L, TARBP1, TBCE, TFB2M, TMEM63A, TMEM78, TOMM20, TP53BP2, TRE-CTC2-1, TRIM11, TRIM17, TRIM58, TRIM67, TRIM67-AS1, TRL-CAA4-1, TSNAX, TSNAX-DISC1, TTC13, URB2, VN1R5, WDR26, WDR64, WNT3A, WNT9A, ZBTB18, ZNF124, ZNF496, ZNF496-DT, ZNF669, ZNF670, ZNF670-ZNF695, ZNF672, ZNF678, ZNF692, ZNF695, ZP4, ABCB10, ACBD3, ACBD3-AS1, ACTA1, ACTN2, ADSS2, AGT, AHCTF1, AKT3, AKT3-IT1, ARF1, ARID4B, ARV1, B3GALNT2, BECN2, BTNL10, C1orf131, C1orf198, C1orf202, C1orf35, CAPN9, CATSPERE, CCSAP, CDC42BPA, CEP170, CHML, CHRM3, CHRM3-AS1, CHRM3-AS2, CNIH3, CNIH3-AS1, CNIH3-AS2, CNIH4, CNST, COA6, COA6-AS1, COG2, COQ8A, COX20, DEGS1, DESI2, DISC1, DISC1-IT1, DISC2, DNAH14, EDARADD, EFCAB2, EGLN1, ENAH, EPHX1, ERO1B, EXO1, EXOC8, FAM89A, FBXO28, FH, FLJ39095, FMN2, GALNT2, GCSAML, GCSAML-AS1, GGPS1, GJC2, GNG4, GNPAT, GPR137B, GREM2, GUK1, H2AC25, H2BC26, H3-3A, H3-3A-DT, H3-4, HEATR1, HNRNPU, IBA57, IBA57-DT, IRF2BP2, ITPKB, ITPKB-IT1, JMJD4, KCNK1, KIF26B, KIF26B-AS1, KMO, LBR, LEFTY1, LEFTY2, LGALS8, LGALS8-AS1, LIN9, LINC00184, LINC00582, LINC01132, LINC01139, LINC01341, LINC01347, LINC01348, LINC01354, LINC01641, LINC01682, LINC01703, LINC01736, LINC01737, LINC01743, LINC01744, LINC01745, LINC02765, LINC02768, LINC02774, LINC02809, LINC02815, LINC02897, LINC02961, LNCATV, LOC100506929, LOC101927143, LOC101927164, LOC101927604, LOC101927787, LOC101928068, LOC105373289, LOC107546745, LOC107546746, LOC107546747, LOC107546778, LOC107546780, LOC107548103, LOC107985355, LOC108004528, LOC110120698, LOC110121205, LOC110121251, LOC110121263, LOC110121264, LOC110121265, LOC110121266, LOC110121307, LOC111365197, LOC111365208, LOC111828504, LOC112577543, LOC112577544, LOC112577545, LOC112577546, LOC112577547, LOC112577548, LOC112577552, LOC112577554, LOC112577555, LOC112577556, LOC112577557, LOC112577558, LOC112577559, LOC112577560, LOC112577561, LOC112577565, LOC112577566, LOC112577567, LOC112577568, LOC112577569, LOC113939987, LOC115804247, LOC115804248, LOC115804249, LOC115804250, LOC115804251, LOC115804252, LOC115804253, LOC115804254, LOC115804255, LOC115804256, LOC120807606, LOC120908911, LOC120908912, LOC120908913, LOC120908914, LOC120908915, LOC120908916, LOC120908917, LOC120908918, LOC120908919, LOC120908920, LOC120908921, LOC120908922, LOC120908923, LOC120947224, LOC121725075, LOC121725076, LOC122152307, LOC122152308, LOC122152309, LOC122152310, LOC122152311, LOC122152312, LOC122152313, LOC122152314, LOC122152315, LOC122152316, LOC122152317, LOC122152318, LOC122152319, LOC122152320, LOC122152321, LOC122152322, LOC122152332, LOC122152333, LOC122152334, LOC122152335, LOC122152336, LOC122152337, LOC122152338, LOC122152339, LOC122152340, LOC122152341, LOC122152342, LOC122152343, LOC122152344, LOC122152345, LOC122152346, LOC122152347, LOC122152348, LOC122152349, LOC122152350, LOC122152351, LOC122152352, LOC122152353, LOC122152354, LOC122152355, LOC122152356, LOC122152357, LOC122152358, LOC122152359, LOC122152360, LOC122152361, LOC122152362, LOC122526782, LOC126264117, LOC126806029, LOC126806030, LOC126806031 | | See cases | Pathogenic (Aug 12, 2011) | criteria provided, single submitter |
| - GRCh37:
- Chr1:224075482-249185508
- GRCh38:
- Chr1:223887780-248891309
| LOC126806072, LOC126806073, LOC126806074, LOC126806075, LOC126806076, LOC126806077, LOC126806078, LOC126806079, LOC126806080, LOC126806081, LOC126806082, LOC126806083, LOC126806084, LOC126806085, LOC126806086, LOC126806087, LOC126806088, LOC126806089, LOC126806090, LOC128598893, LOC128598894, LOC128635606, LOC128635607, LOC128772240, LOC128772241, LOC128772242, LOC128772243, LOC128772244, LOC128772245, LOC440742, LYPD8, LYST, MAP10, MAP1LC3C, MAP3K21, MIR1182, MIR1537, MIR3123, MIR3124, MIR320B2, MIR3620, MIR3916, MIR4427, MIR4428, MIR4666A, MIR4671, MIR4677, MIR4742, MIR4753, MIR5008, MIR6741, MIR6742, MIXL1, MRPL55, MT1HL1, MTR, NID1, NLRP3, NTPCR, NUP133, NUP133-DT, NVL, OBSCN, OBSCN-AS1, OPN3, OR11L1, OR13G1, OR14A16, OR14A2, OR14C36, OR14I1, OR14K1, OR14L1, OR1C1, OR2AJ1, 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, OR2T7, OR2T8, OR2W3, OR6F1, OR9H1P, PARP1, PCNX2, PGBD2, PGBD5, PLD5, PRSS38, PSEN2, PYCR2, RAB4A, RAB4A-AS1, RBM34, RGS7, RHOU, RNA5S1, RNA5S10, RNA5S11, RNA5S12, RNA5S13, RNA5S14, RNA5S15, RNA5S16, RNA5S17, RNA5S2, RNA5S3, RNA5S4, RNA5S5, RNA5S6, RNA5S7, RNA5S8, RNA5S9, RNF187, RYR2, SCCPDH, SDCCAG8, SDE2, SH3BP5L, SIPA1L2, SLC35F3, SLC35F3-AS1, SMYD3, SMYD3-AS1, SNAP47, SNORA100, SNORA14B, SPHAR, SPMIP3, SPRTN, SRP9, STUM, TAF5L, TARBP1, TBCE, TFB2M, TMEM63A, TMEM78, TOMM20, TRE-CTC2-1, TRIM11, TRIM17, TRIM58, TRIM67, TRIM67-AS1, TRL-CAA4-1, TSNAX, TSNAX-DISC1, TTC13, URB2, VN1R5, WDR26, WDR64, WNT3A, WNT9A, ZBTB18, ZNF124, ZNF496, ZNF496-DT, ZNF669, ZNF670, ZNF670-ZNF695, ZNF672, ZNF678, ZNF692, ZNF695, ZP4, ABCB10, ACBD3, ACBD3-AS1, ACTA1, ACTN2, ADSS2, AGT, AHCTF1, AKT3, AKT3-IT1, ARF1, ARID4B, ARV1, B3GALNT2, BECN2, BTNL10, C1orf131, C1orf198, C1orf202, C1orf35, CAPN9, CATSPERE, CCSAP, CDC42BPA, CEP170, CHML, CHRM3, CHRM3-AS1, CHRM3-AS2, CNIH3, CNIH3-AS1, CNIH3-AS2, CNIH4, CNST, COA6, COA6-AS1, COG2, COQ8A, COX20, DEGS1, DESI2, DISC1, DISC1-IT1, DISC2, DNAH14, EDARADD, EFCAB2, EGLN1, ENAH, EPHX1, ERO1B, EXO1, EXOC8, FAM89A, FBXO28, FH, FLJ39095, FMN2, GALNT2, GCSAML, GCSAML-AS1, GGPS1, GJC2, GNG4, GNPAT, GPR137B, GREM2, GUK1, H2AC25, H2BC26, H3-3A, H3-3A-DT, H3-4, HEATR1, HNRNPU, IBA57, IBA57-DT, IRF2BP2, ITPKB, ITPKB-IT1, JMJD4, KCNK1, KIF26B, KIF26B-AS1, KMO, LBR, LEFTY1, LEFTY2, LGALS8, LGALS8-AS1, LIN9, LINC00184, LINC00582, LINC01132, LINC01139, LINC01341, LINC01347, LINC01348, LINC01354, LINC01641, LINC01682, LINC01703, LINC01736, LINC01737, LINC01743, LINC01744, LINC01745, LINC02765, LINC02768, LINC02774, LINC02809, LINC02815, LINC02897, LINC02961, LNCATV, LOC100506929, LOC101927143, LOC101927164, LOC101927604, LOC101927787, LOC101928068, LOC105373289, LOC107546745, LOC107546746, LOC107546747, LOC107546778, LOC107546780, LOC107548103, LOC107985355, LOC108004528, LOC110120698, LOC110121205, LOC110121251, LOC110121263, LOC110121264, LOC110121265, LOC110121266, LOC110121307, LOC111365197, LOC111365208, LOC111828504, LOC112577543, LOC112577544, LOC112577545, LOC112577546, LOC112577547, LOC112577548, LOC112577552, LOC112577554, LOC112577555, LOC112577556, LOC112577557, LOC112577558, LOC112577559, LOC112577560, LOC112577561, LOC112577565, LOC112577566, LOC112577567, LOC112577568, LOC112577569, LOC113939987, LOC115804247, LOC115804248, LOC115804249, LOC115804250, LOC115804251, LOC115804252, LOC115804253, LOC115804254, LOC115804255, LOC115804256, LOC120807606, LOC120908911, LOC120908912, LOC120908913, LOC120908914, LOC120908915, LOC120908916, LOC120908917, LOC120908918, LOC120908919, LOC120908920, LOC120908921, LOC120908922, LOC120908923, LOC120947224, LOC121725075, LOC121725076, LOC122152307, LOC122152308, LOC122152309, LOC122152310, LOC122152311, LOC122152312, LOC122152313, LOC122152314, LOC122152315, LOC122152316, LOC122152317, LOC122152318, LOC122152319, LOC122152320, LOC122152321, LOC122152322, LOC122152332, LOC122152333, LOC122152334, LOC122152335, LOC122152336, LOC122152337, LOC122152338, LOC122152339, LOC122152340, LOC122152341, LOC122152342, LOC122152343, LOC122152344, LOC122152345, LOC122152346, LOC122152347, LOC122152348, LOC122152349, LOC122152350, LOC122152351, LOC122152352, LOC122152353, LOC122152354, LOC122152355, LOC122152356, LOC122152357, LOC122152358, LOC122152359, LOC122152360, LOC122152361, LOC122152362, LOC122526782, LOC126264117, LOC126806029, LOC126806030, LOC126806031, LOC126806032, LOC126806033, LOC126806034, LOC126806035, LOC126806036, LOC126806037, LOC126806038, LOC126806039, LOC126806040, LOC126806041, LOC126806042, LOC126806043, LOC126806044, LOC126806045, LOC126806046, LOC126806047, LOC126806048, LOC126806049, LOC126806050, LOC126806051, LOC126806052, LOC126806053, LOC126806054, LOC126806055, LOC126806056, LOC126806057, LOC126806058, LOC126806059, LOC126806060, LOC126806061, LOC126806062, LOC126806063, LOC126806064, LOC126806065, LOC126806066, LOC126806067, LOC126806068, LOC126806069, LOC126806070, LOC126806071 | | See cases | Pathogenic (Aug 12, 2011) | criteria provided, single submitter |
| - GRCh37:
- Chr1:224210564-249212668
- GRCh38:
- Chr1:224022862-248918469
| ABCB10, ACBD3, ACBD3-AS1, ACTA1, ACTN2, ADSS2, AGT, AHCTF1, AKT3, AKT3-IT1, ARF1, ARID4B, ARV1, B3GALNT2, BECN2, BTNL10, C1orf131, C1orf198, C1orf202, C1orf35, CAPN9, CATSPERE, CCSAP, CDC42BPA, CEP170, CHML, CHRM3, CHRM3-AS1, CHRM3-AS2, CNIH3, CNIH3-AS1, CNIH3-AS2, CNIH4, CNST, COA6, COA6-AS1, COG2, COQ8A, COX20, DEGS1, DESI2, DISC1, DISC1-IT1, DISC2, DNAH14, EDARADD, EFCAB2, EGLN1, ENAH, EPHX1, ERO1B, EXO1, EXOC8, FAM89A, FBXO28, FH, FLJ39095, FMN2, GALNT2, GCSAML, GCSAML-AS1, GGPS1, GJC2, GNG4, GNPAT, GPR137B, GREM2, GUK1, H2AC25, H2BC26, H3-3A, H3-3A-DT, H3-4, HEATR1, HNRNPU, IBA57, IBA57-DT, IRF2BP2, ITPKB, ITPKB-IT1, JMJD4, KCNK1, KIF26B, KIF26B-AS1, KMO, LBR, LEFTY1, LEFTY2, LGALS8, LGALS8-AS1, LIN9, LINC00184, LINC00582, LINC01132, LINC01139, LINC01341, LINC01347, LINC01348, LINC01354, LINC01641, LINC01682, LINC01703, LINC01736, LINC01737, LINC01743, LINC01744, LINC01745, LINC02765, LINC02768, LINC02774, LINC02809, LINC02815, LINC02897, LINC02961, LNCATV, LOC100506929, LOC101927143, LOC101927164, LOC101927604, LOC101927787, LOC101928068, LOC105373289, LOC107546745, LOC107546746, LOC107546747, LOC107546778, LOC107546780, LOC107548103, LOC107985355, LOC108004528, LOC110120698, LOC110121205, LOC110121251, LOC110121263, LOC110121264, LOC110121265, LOC110121266, LOC110121307, LOC111365197, LOC111365208, LOC111828504, LOC112577543, LOC112577544, LOC112577545, LOC112577546, LOC112577547, LOC112577548, LOC112577552, LOC112577554, LOC112577555, LOC112577556, LOC112577557, LOC112577558, LOC112577559, LOC112577560, LOC112577561, LOC112577565, LOC112577566, LOC112577567, LOC112577568, LOC112577569, LOC113939987, LOC115804247, LOC115804248, LOC115804249, LOC115804250, LOC115804251, LOC115804252, LOC115804253, LOC115804254, LOC115804255, LOC115804256, LOC120807606, LOC120908911, LOC120908912, LOC120908913, LOC120908914, LOC120908915, LOC120908916, LOC120908917, LOC120908918, LOC120908919, LOC120908920, LOC120908921, LOC120908922, LOC120908923, LOC120947224, LOC121725075, LOC121725076, LOC122152307, LOC122152308, LOC122152309, LOC122152310, LOC122152311, LOC122152312, LOC122152313, LOC122152314, LOC122152315, LOC122152316, LOC122152317, LOC122152318, LOC122152319, LOC122152320, LOC122152321, LOC122152322, LOC122152332, LOC122152333, LOC122152334, LOC122152335, LOC122152336, LOC122152337, LOC122152338, LOC122152339, LOC122152340, LOC122152341, LOC122152342, LOC122152343, LOC122152344, LOC122152345, LOC122152346, LOC122152347, LOC122152348, LOC122152349, LOC122152350, LOC122152351, LOC122152352, LOC122152353, LOC122152354, LOC122152355, LOC122152356, LOC122152357, LOC122152358, LOC122152359, LOC122152360, LOC122152361, LOC122152362, LOC122526782, LOC126264117, LOC126806030, LOC126806031, LOC126806032, LOC126806033, LOC126806034, LOC126806035, LOC126806036, LOC126806037, LOC126806038, LOC126806039, LOC126806040, LOC126806041, LOC126806042, LOC126806043, LOC126806044, LOC126806045, LOC126806046, LOC126806047, LOC126806048, LOC126806049, LOC126806050, LOC126806051, LOC126806052, LOC126806053, LOC126806054, LOC126806055, LOC126806056, LOC126806057, LOC126806058, LOC126806059, LOC126806060, LOC126806061, LOC126806062, LOC126806063, LOC126806064, LOC126806065, LOC126806066, LOC126806067, LOC126806068, LOC126806069, LOC126806070, LOC126806071, LOC126806072, LOC126806073, LOC126806074, LOC126806075, LOC126806076, LOC126806077, LOC126806078, LOC126806079, LOC126806080, LOC126806081, LOC126806082, LOC126806083, LOC126806084, LOC126806085, LOC126806086, LOC126806087, LOC126806088, LOC126806089, LOC126806090, LOC128598893, LOC128598894, LOC128635606, LOC128635607, LOC128772240, LOC128772241, LOC128772242, LOC128772243, LOC128772244, LOC128772245, LOC440742, LYPD8, LYST, MAP10, MAP1LC3C, MAP3K21, MIR1182, MIR1537, MIR3123, MIR3124, MIR320B2, MIR3620, MIR3916, MIR4427, MIR4428, MIR4666A, MIR4671, MIR4677, MIR4742, MIR4753, MIR5008, MIR6741, MIR6742, MIXL1, MRPL55, MT1HL1, MTR, NID1, NLRP3, NTPCR, NUP133, NUP133-DT, NVL, OBSCN, OBSCN-AS1, OPN3, OR11L1, OR13G1, OR14A16, OR14A2, OR14C36, OR14I1, OR14K1, OR14L1, OR1C1, OR2AJ1, 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, OR2T7, OR2T8, OR2W3, OR6F1, OR9H1P, PARP1, PCNX2, PGBD2, PGBD5, PLD5, PRSS38, PSEN2, PYCR2, RAB4A, RAB4A-AS1, RBM34, RGS7, RHOU, RNA5S1, RNA5S10, RNA5S11, RNA5S12, RNA5S13, RNA5S14, RNA5S15, RNA5S16, RNA5S17, RNA5S2, RNA5S3, RNA5S4, RNA5S5, RNA5S6, RNA5S7, RNA5S8, RNA5S9, RNF187, RYR2, SCCPDH, SDCCAG8, SDE2, SH3BP5L, SIPA1L2, SLC35F3, SLC35F3-AS1, SMYD3, SMYD3-AS1, SNAP47, SNORA100, SNORA14B, SPHAR, SPMIP3, SPRTN, SRP9, STUM, TAF5L, TARBP1, TBCE, TFB2M, TMEM63A, TMEM78, TOMM20, TRE-CTC2-1, TRIM11, TRIM17, TRIM58, TRIM67, TRIM67-AS1, TRL-CAA4-1, TSNAX, TSNAX-DISC1, TTC13, URB2, VN1R5, WDR26, WDR64, WNT3A, WNT9A, ZBTB18, ZNF124, ZNF496, ZNF496-DT, ZNF669, ZNF670, ZNF670-ZNF695, ZNF672, ZNF678, ZNF692, ZNF695, ZP4 | | See cases | Pathogenic (Sep 16, 2011) | no assertion criteria provided |
| - GRCh37:
- Chr1:224284190-249212668
- GRCh38:
- Chr1:224096488-248918469
| ABCB10, ACBD3, ACBD3-AS1, ACTA1, ACTN2, ADSS2, AGT, AHCTF1, AKT3, AKT3-IT1, ARF1, ARID4B, ARV1, B3GALNT2, BECN2, BTNL10, C1orf131, C1orf198, C1orf202, C1orf35, CAPN9, CATSPERE, CCSAP, CDC42BPA, CEP170, CHML, CHRM3, CHRM3-AS1, CHRM3-AS2, CNIH3, CNIH3-AS1, CNIH3-AS2, CNIH4, CNST, COA6, COA6-AS1, COG2, COQ8A, COX20, DEGS1, DESI2, DISC1, DISC1-IT1, DISC2, DNAH14, EDARADD, EFCAB2, EGLN1, ENAH, EPHX1, ERO1B, EXO1, EXOC8, FAM89A, FBXO28, FH, FLJ39095, FMN2, GALNT2, GCSAML, GCSAML-AS1, GGPS1, GJC2, GNG4, GNPAT, GPR137B, GREM2, GUK1, H2AC25, H2BC26, H3-3A, H3-3A-DT, H3-4, HEATR1, HNRNPU, IBA57, IBA57-DT, IRF2BP2, ITPKB, ITPKB-IT1, JMJD4, KCNK1, KIF26B, KIF26B-AS1, KMO, LBR, LEFTY1, LEFTY2, LGALS8, LGALS8-AS1, LIN9, LINC00184, LINC00582, LINC01132, LINC01139, LINC01341, LINC01347, LINC01348, LINC01354, LINC01641, LINC01682, LINC01703, LINC01736, LINC01737, LINC01743, LINC01744, LINC01745, LINC02765, LINC02768, LINC02774, LINC02809, LINC02815, LINC02897, LINC02961, LNCATV, LOC100506929, LOC101927143, LOC101927164, LOC101927604, LOC101927787, LOC101928068, LOC105373289, LOC107546745, LOC107546746, LOC107546747, LOC107546778, LOC107546780, LOC107548103, LOC107985355, LOC108004528, LOC110120698, LOC110121205, LOC110121251, LOC110121263, LOC110121264, LOC110121265, LOC110121266, LOC110121307, LOC111365197, LOC111365208, LOC111828504, LOC112577543, LOC112577544, LOC112577545, LOC112577546, LOC112577547, LOC112577548, LOC112577552, LOC112577554, LOC112577555, LOC112577556, LOC112577557, LOC112577558, LOC112577559, LOC112577560, LOC112577561, LOC112577565, LOC112577566, LOC112577567, LOC112577568, LOC112577569, LOC113939987, LOC115804247, LOC115804248, LOC115804249, LOC115804250, LOC115804251, LOC115804252, LOC115804253, LOC115804254, LOC115804255, LOC115804256, LOC120807606, LOC120908911, LOC120908912, LOC120908913, LOC120908914, LOC120908915, LOC120908916, LOC120908917, LOC120908918, LOC120908919, LOC120908920, LOC120908921, LOC120908922, LOC120908923, LOC120947224, LOC121725075, LOC121725076, LOC122152307, LOC122152308, LOC122152309, LOC122152310, LOC122152311, LOC122152312, LOC122152313, LOC122152314, LOC122152315, LOC122152316, LOC122152317, LOC122152318, LOC122152319, LOC122152320, LOC122152321, LOC122152322, LOC122152332, LOC122152333, LOC122152334, LOC122152335, LOC122152336, LOC122152337, LOC122152338, LOC122152339, LOC122152340, LOC122152341, LOC122152342, LOC122152343, LOC122152344, LOC122152345, LOC122152346, LOC122152347, LOC122152348, LOC122152349, LOC122152350, LOC122152351, LOC122152352, LOC122152353, LOC122152354, LOC122152355, LOC122152356, LOC122152357, LOC122152358, LOC122152359, LOC122152360, LOC122152361, LOC122152362, LOC122526782, LOC126264117, LOC126806030, LOC126806031, LOC126806032, LOC126806033, LOC126806034, LOC126806035, LOC126806036, LOC126806037, LOC126806038, LOC126806039, LOC126806040, LOC126806041, LOC126806042, LOC126806043, LOC126806044, LOC126806045, LOC126806046, LOC126806047, LOC126806048, LOC126806049, LOC126806050, LOC126806051, LOC126806052, LOC126806053, LOC126806054, LOC126806055, LOC126806056, LOC126806057, LOC126806058, LOC126806059, LOC126806060, LOC126806061, LOC126806062, LOC126806063, LOC126806064, LOC126806065, LOC126806066, LOC126806067, LOC126806068, LOC126806069, LOC126806070, LOC126806071, LOC126806072, LOC126806073, LOC126806074, LOC126806075, LOC126806076, LOC126806077, LOC126806078, LOC126806079, LOC126806080, LOC126806081, LOC126806082, LOC126806083, LOC126806084, LOC126806085, LOC126806086, LOC126806087, LOC126806088, LOC126806089, LOC126806090, LOC128598893, LOC128598894, LOC128635606, LOC128635607, LOC128772240, LOC128772241, LOC128772242, LOC128772243, LOC128772244, LOC128772245, LOC440742, LYPD8, LYST, MAP10, MAP1LC3C, MAP3K21, MIR1182, MIR1537, MIR3123, MIR3124, MIR320B2, MIR3620, MIR3916, MIR4427, MIR4428, MIR4666A, MIR4671, MIR4677, MIR4742, MIR4753, MIR5008, MIR6741, MIR6742, MIXL1, MRPL55, MT1HL1, MTR, NID1, NLRP3, NTPCR, NUP133, NUP133-DT, NVL, OBSCN, OBSCN-AS1, OPN3, OR11L1, OR13G1, OR14A16, OR14A2, OR14C36, OR14I1, OR14K1, OR14L1, OR1C1, OR2AJ1, 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, OR2T7, OR2T8, OR2W3, OR6F1, OR9H1P, PARP1, PCNX2, PGBD2, PGBD5, PLD5, PRSS38, PSEN2, PYCR2, RAB4A, RAB4A-AS1, RBM34, RGS7, RHOU, RNA5S1, RNA5S10, RNA5S11, RNA5S12, RNA5S13, RNA5S14, RNA5S15, RNA5S16, RNA5S17, RNA5S2, RNA5S3, RNA5S4, RNA5S5, RNA5S6, RNA5S7, RNA5S8, RNA5S9, RNF187, RYR2, SCCPDH, SDCCAG8, SDE2, SH3BP5L, SIPA1L2, SLC35F3, SLC35F3-AS1, SMYD3, SMYD3-AS1, SNAP47, SNORA100, SNORA14B, SPHAR, SPMIP3, SPRTN, SRP9, STUM, TAF5L, TARBP1, TBCE, TFB2M, TMEM63A, TMEM78, TOMM20, TRE-CTC2-1, TRIM11, TRIM17, TRIM58, TRIM67, TRIM67-AS1, TRL-CAA4-1, TSNAX, TSNAX-DISC1, TTC13, URB2, VN1R5, WDR26, WDR64, WNT3A, WNT9A, ZBTB18, ZNF124, ZNF496, ZNF496-DT, ZNF669, ZNF670, ZNF670-ZNF695, ZNF672, ZNF678, ZNF692, ZNF695, ZP4 | | See cases | Pathogenic (Aug 12, 2011) | criteria provided, single submitter |
| - GRCh37:
- Chr1:225626182-249060210
- GRCh38:
- Chr1:225438480-248787200
| ABCB10, ACBD3, ACBD3-AS1, ACTA1, ACTN2, ADSS2, AGT, AHCTF1, AKT3, AKT3-IT1, ARF1, ARID4B, ARV1, B3GALNT2, BECN2, BTNL10, C1orf131, C1orf198, C1orf202, C1orf35, CAPN9, CATSPERE, CCSAP, CDC42BPA, CEP170, CHML, CHRM3, CHRM3-AS1, CHRM3-AS2, CNST, COA6, COA6-AS1, COG2, COQ8A, COX20, DESI2, DISC1, DISC1-IT1, DISC2, EDARADD, EFCAB2, EGLN1, ENAH, EPHX1, ERO1B, EXO1, EXOC8, FAM89A, FH, FLJ39095, FMN2, GALNT2, GCSAML, GCSAML-AS1, GGPS1, GJC2, GNG4, GNPAT, GPR137B, GREM2, GUK1, H2AC25, H2BC26, H3-3A, H3-3A-DT, H3-4, HEATR1, HNRNPU, IBA57, IBA57-DT, IRF2BP2, ITPKB, ITPKB-IT1, JMJD4, KCNK1, KIF26B, KIF26B-AS1, KMO, LEFTY1, LEFTY2, LGALS8, LGALS8-AS1, LIN9, LINC00184, LINC00582, LINC01132, LINC01139, LINC01341, LINC01347, LINC01348, LINC01354, LINC01641, LINC01682, LINC01703, LINC01736, LINC01737, LINC01743, LINC01744, LINC01745, LINC02765, LINC02768, LINC02774, LINC02809, LINC02815, LINC02897, LINC02961, LNCATV, LOC100506929, LOC101927604, LOC101927787, LOC101928068, LOC105373289, LOC107546745, LOC107546746, LOC107546747, LOC107546778, LOC107546780, LOC107548103, LOC107985355, LOC108004528, LOC110120698, LOC110121205, LOC110121251, LOC110121263, LOC110121264, LOC110121265, LOC110121266, LOC110121307, LOC111365197, LOC111365208, LOC111828504, LOC112577545, LOC112577546, LOC112577547, LOC112577548, LOC112577552, LOC112577554, LOC112577555, LOC112577556, LOC112577557, LOC112577558, LOC112577559, LOC112577560, LOC112577561, LOC112577565, LOC112577566, LOC112577567, LOC112577568, LOC112577569, LOC113939987, LOC115804247, LOC115804248, LOC115804249, LOC115804250, LOC115804251, LOC115804252, LOC115804253, LOC115804254, LOC120807606, LOC120908911, LOC120908912, LOC120908913, LOC120908914, LOC120908915, LOC120908916, LOC120908917, LOC120908918, LOC120908919, LOC120908920, LOC120908921, LOC120908922, LOC120908923, LOC120947224, LOC121725075, LOC121725076, LOC122152309, LOC122152310, LOC122152311, LOC122152312, LOC122152313, LOC122152314, LOC122152315, LOC122152316, LOC122152317, LOC122152318, LOC122152319, LOC122152320, LOC122152321, LOC122152322, LOC122152332, LOC122152333, LOC122152334, LOC122152335, LOC122152336, LOC122152337, LOC122152338, LOC122152339, LOC122152340, |