| - GRCh37:
- Chr16:52933095-90155062
- GRCh38:
- Chr16:52899183-90088654
| SNORD111B, SNORD13H, SNORD68, SNORD71, SNTB2, SPATA2L, SPATA33, SPG7, SPIRE2, SPMIP8, ST3GAL2, SYCE1L, TAF1C, TANGO6, TAT, TAT-AS1, TCF25, TERB1, TERF2, TERF2IP, THAP11, TK2, TLE7, TMED6, TMEM170A, TMEM208, TMEM231, TPPP3, TRADD, TRAPPC2L, TRG-GCC2-4, TRG-GCC2-5, TRG-GCC3-1, TRG-GCC5-1, TRK-TTT1-1, TRL-CAG2-1, TRL-CAG2-2, TRM-CAT2-1, TRM-CAT6-1, TSNAXIP1, TUBB3, TXNL4B, USB1, USP10, UTP4, VAC14, VAC14-AS1, VAT1L, VPS4A, VPS9D1, VPS9D1-AS1, WDR59, WFDC1, WWOX, WWOX-AS1, WWP2, ZC3H18, ZC3H18-AS1, ZCCHC14, ZCCHC14-DT, ZDHHC1, ZDHHC7, ZFHX3, ZFHX3-AS1, ZFP1, ZFP90, ZFPM1, ZFPM1-AS1, ZNF19, ZNF23, ZNF276, ZNF319, ZNF469, ZNF778, ZNF821, ZNRF1, AARS1, ACD, ACSF3, ADAD2, ADAMTS18, ADAT1, ADGRG1, ADGRG3, ADGRG5, AGRP, AKTIP, AMFR, ANKRD11, AP1G1, APRT, ARL2BP, ARLNC1, ATMIN, ATP2C2, ATP2C2-AS1, ATP6V0D1, ATP6V0D1-DT, ATXN1L, B3GNT9, BANP, BBS2, BCAR1, BCO1, BEAN1, BEAN1-AS1, C16orf46, C16orf47, C16orf74, C16orf86, C16orf95, C16orf95-DT, CA5A, CA7, CALB2, CAPNS2, CARMIL2, CBFA2T3, CBFB, CCDC102A, CCDC113, CCL17, CCL22, CDH16, CDH1, CDH11, CDH13, CDH13-AS1, CDH13-AS2, CDH15, CDH3, CDH5, CDH8, CDK10, CDT1, CDYL2, CEDORA, CENPBD1, CENPN, CENPT, CES1, CES2, CES3, CES4A, CES5A, CETP, CFAP20, CFDP1, CHD9, CHD9NB, CHMP1A, CHST4, CHST5, CHST6, CHTF8, CIAO2B, CIAPIN1, CIBAR2, CKLF, CKLF-CMTM1, CLEC18A, CLEC18B, CLEC18C, CLEC3A, CMC2, CMIP, CMTM1, CMTM2, CMTM3, CMTM4, CMTR2, CNGB1, CNOT1, CNTNAP4, COG4, COG8, COQ9, COTL1, COX4I1, CPHXL, CPHXL2, CPNE2, CPNE7, CRISPLD2, CRNDE, CSNK2A2, CTCF, CTCF-DT, CTRB1, CTRB2, CTRL, CTU2, CX3CL1, CYB5B, CYBA, DBNDD1, DDX19A, DDX19A-DT, DDX19B, DDX28, DEF8, DERPC, DHODH, DHX38, DNAAF1, DOK4, DPEP1, DPEP2, DPEP2NB, DPEP3, DRC7, DUS2, DUXB, DYNC1LI2, DYNC1LI2-DT, DYNLRB2, DYNLRB2-AS1, E2F4, EDC4, ELMO3, EMC8, ENKD1, ESRP2, EXOC3L1, EXOSC6, FA2H, FANCA, FBXL8, FBXO31, FCSK, FENDRR, FHOD1, FLJ30679, FOXC2, FOXC2-AS1, FOXF1, FOXL1, FRA16B, FTO, FTO-IT1, GABARAPL2, GALNS, GAN, GAS8, GAS8-AS1, GCSH, GFOD2, GINS2, GINS3, GLG1, GNAO1, GNAO1-AS1, GNAO1-DT, GOT2, GSE1, HAS3, HCCAT5, HERPUD1, HP, HPR, HSBP1, HSD11B2, HSD17B2, HSD17B2-AS1, HSDL1, HSF4, HYDIN, IL17C, IL34, IRF8, IRX3, IRX5, IRX6, IST1, JPH3, KARS1, KATNB1, KCNG4, KCTD19, KIAA0513, KIFC3, KLHDC4, KLHL36, LCAT, LDHD, LINC00304, LINC00311, LINC00917, LINC00920, LINC00922, LINC01081, LINC01082, LINC01227, LINC01228, LINC01229, LINC01572, LINC02125, LINC02126, LINC02131, LINC02135, LINC02136, LINC02137, LINC02138, LINC02139, LINC02140, LINC02141, LINC02166, LINC02169, LINC02176, LINC02181, LINC02182, LINC02188, LINC02189, LOC100129215, LOC100129617, LOC100129697, LOC100287036, LOC100289580, LOC100505942, LOC100506281, LOC101927480, LOC101927556, LOC101927793, LOC101927817, LOC101927863, LOC101928230, LOC101928392, LOC101928417, LOC101928446, LOC101928557, LOC101928682, LOC101928708, LOC102723373, LOC102724467, LOC102725116, LOC105371296, LOC105371328, LOC105371335, LOC105371347, LOC105371401, LOC105371414, LOC105376772, LOC105943583, LOC107984862, LOC108251797, LOC108254672, LOC108281164, LOC109029536, LOC110120569, LOC110120570, LOC110120571, LOC110120572, LOC110120573, LOC110120574, LOC110120575, LOC110120576, LOC110120577, LOC110120578, LOC110120579, LOC110120580, LOC110120581, LOC110120824, LOC110120835, LOC110120837, LOC110120838, LOC110120839, LOC110121356, LOC110121410, LOC110121411, LOC110121436, LOC110121443, LOC110121450, LOC110121468, LOC111365156, LOC111365213, LOC111413011, LOC111413029, LOC111429607, LOC111556152, LOC112449716, LOC112449717, LOC112469003, LOC112469004, LOC112469005, LOC112469006, LOC112469007, LOC112469008, LOC112469009, LOC112469010, LOC112469011, LOC112469012, LOC112469013, LOC112469014, LOC112469015, LOC112469016, LOC112486201, LOC112486202, LOC112486203, LOC112486204, LOC112486205, LOC112486206, LOC112486207, LOC112486208, LOC112486209, LOC112486210, LOC112486211, LOC112486212, LOC112486213, LOC112486214, LOC112486215, LOC112486216, LOC112486217, LOC112486218, LOC112486219, LOC112486220, LOC112486221, LOC112486222, LOC112486223, LOC112486227, LOC113939956, LOC116276453, LOC121587546, LOC121587547, LOC121587548, LOC121587549, LOC121587550, LOC121587551, LOC121587552, LOC121587553, LOC121587554, LOC121587555, LOC121587556, LOC121587557, LOC121587558, LOC121587559, LOC121587560, LOC121587561, LOC121587562, LOC121587563, LOC121587564, LOC121587565, LOC121587566, LOC121587567, LOC121847988, LOC121847989, LOC121847990, LOC121847991, LOC121847992, LOC121847993, LOC121847994, LOC121847995, LOC121847996, LOC121847997, LOC121847998, LOC121847999, LOC121848000, LOC121848001, LOC125177313, LOC125177314, LOC125177315, LOC125177316, LOC125177317, LOC125177318, LOC125177319, LOC125177320, LOC125177322, LOC125177323, LOC125177324, LOC125177325, LOC125177326, LOC125177327, LOC125177328, LOC125177330, LOC125177332, LOC125177333, LOC125177334, LOC125177336, LOC125177337, LOC125177338, LOC125177339, LOC125177340, LOC125177341, LOC125177342, LOC125177343, LOC125177344, LOC125177345, LOC125177346, LOC125177347, LOC125177348, LOC125177349, LOC125177350, LOC125177351, LOC125177352, LOC125177353, LOC125177354, LOC125177355, LOC125177356, LOC125177357, LOC125177358, LOC125177359, LOC125177360, LOC125177361, LOC125177362, LOC125177363, LOC125177365, LOC125177366, LOC125177367, LOC125177368, LOC125177380, LOC125177381, LOC125177382, LOC125177383, LOC125177384, LOC125177385, LOC125177386, LOC125177387, LOC125177388, LOC125177389, LOC125177390, LOC125177391, LOC125177392, LOC125177393, LOC125177394, LOC125177395, LOC125177396, LOC125177397, LOC126862353, LOC126862354, LOC126862355, LOC126862356, LOC126862357, LOC126862358, LOC126862359, LOC126862360, LOC126862361, LOC126862362, LOC126862363, LOC126862364, LOC126862365, LOC126862366, LOC126862367, LOC126862368, LOC126862369, LOC126862370, LOC126862371, LOC126862372, LOC126862373, LOC126862374, LOC126862375, LOC126862376, LOC126862377, LOC126862378, LOC126862379, LOC126862380, LOC126862381, LOC126862382, LOC126862383, LOC126862384, LOC126862385, LOC126862386, LOC126862387, LOC126862388, LOC126862389, LOC126862390, LOC126862391, LOC126862392, LOC126862393, LOC126862394, LOC126862395, LOC126862396, LOC126862397, LOC126862398, LOC126862399, LOC126862400, LOC126862401, LOC126862402, LOC126862403, LOC126862404, LOC126862405, LOC126862406, LOC126862407, LOC126862408, LOC126862409, LOC126862410, LOC126862411, LOC126862412, LOC126862413, LOC126862414, LOC126862415, LOC126862416, LOC126862417, LOC126862418, LOC126862419, LOC126862420, LOC126862421, LOC126862422, LOC126862423, LOC126862424, LOC126862425, LOC126862426, LOC126862427, LOC126862428, LOC126862429, LOC126862430, LOC126862431, LOC126862432, LOC126862433, LOC126862434, LOC126862435, LOC126862436, LOC126862437, LOC126862438, LOC126862439, LOC126862440, LOC126862441, LOC126862442, LOC126862443, LOC126862444, LOC126862445, LOC126862446, LOC126862447, LOC126862448, LOC126862449, LOC126862450, LOC126862451, LOC126862453, LOC128462377, LOC128772395, LOC128772396, LOC128772397, LOC128772398, LOC128772399, LOC128772400, LOC128772401, LOC128772402, LOC128772403, LOC128772404, LOC128772405, LOC128772406, LOC128772407, LOC128772408, LOC128772409, LOC128772410, LOC128772411, LOC128772412, LOC128772413, LOC128772414, LOC128772415, LOC128772416, LOC128772417, LOC128772418, LOC128772419, LOC128772420, LOC128772421, LOC128779116, LOC128822932, LOC128822933, LOC128849170, LOC128849171, LOC128849173, LOC339059, LOC388282, LOC400541, LOC400553, LOC654780, LOHAN2, LPCAT2, LRRC29, LRRC36, MAF, MAFTRR, MAP1LC3B, MARVELD3, MATCAP1, MBTPS1, MC1R, MEAK7, MIR11401, MIR12128, MIR138-2, MIR140, MIR1538, MIR1910, MIR1972-2, MIR3182, MIR328, MIR3935, MIR4719, MIR4720, MIR4722, MIR5093, MIR5189, MIR6504, MIR6772, MIR6773, MIR6774, MIR6775, MIR6863, MIR7854, MIR8058, MLKL, MLYCD, MMP15, MMP2, MMP2-AS1, MON1B, MPHOSPH6, MT1A, MT1B, MT1E, MT1F, MT1G, MT1H, MT1M, MT1X, MT2A, MT3, MT4, MTHFSD, MTSS2, MVD, NAE1, NDRG4, NECAB2, NFAT5, NFATC3, NIP7, NLRC5, NOB1, NOL3, NPIPB15, NQO1, NQO1-DT, NRN1L, NUDT21, NUDT7, NUP93, NUP93-DT, NUTF2, OGFOD1, OSGIN1, PABPN1L, PARD6A, PDF, PDP2, PDPR, PHAF1, PHLPP2, PIEZO1, PKD1L2, PKD1L3, PLA2G15, PLCG2, PLEKHG4, PLLP, PMFBP1, POLR2C, PRDM7, PRMT7, PRSS54, PSKH1, PSMB10, PSMD7, PSMD7-DT, PSME3IP1, RANBP10, RBL2, RFWD3, RIPOR1, RNF166, RPGRIP1L, RPL13, RRAD, RSPRY1, SDR42E1, SETD6, SF3B3, SLC12A3, SLC12A4, SLC22A31, SLC38A7, SLC38A8, SLC6A2, SLC7A5, SLC7A6, SLC7A6OS, SLC9A5, SMPD3, SNAI3, SNAI3-AS1, SNORA119, SNORA46, SNORA50A, SNORA70D, SNORD111 | | See cases | Pathogenic (Sep 27, 2013) | no assertion criteria provided |
| - GRCh37:
- Chr16:64423281-90148393
- GRCh38:
- Chr16:64389378-90081985
| AARS1, BANP, ACD, ACSF3, ADAD2, ADAMTS18, ADAT1, AGRP, ANKRD11, AP1G1, APRT, ARLNC1, ATMIN, ATP2C2, ATP2C2-AS1, ATP6V0D1, ATP6V0D1-DT, ATXN1L, B3GNT9, BCAR1, BCO1, BEAN1, BEAN1-AS1, C16orf46, C16orf47, C16orf74, C16orf86, C16orf95, C16orf95-DT, CA5A, CA7, CALB2, CARMIL2, CBFA2T3, CBFB, CDH1, CDH11, CDH13, CDH13-AS1, CDH13-AS2, CDH15, CDH16, CDH3, CDH5, CDK10, CDT1, CDYL2, CEDORA, CENPBD1, CENPN, CENPT, CES2, CES3, CES4A, CFDP1, CHMP1A, CHST4, CHST5, CHST6, CHTF8, CIAO2B, CIBAR2, CKLF, CKLF-CMTM1, CLEC18A, CLEC18B, CLEC18C, CLEC3A, CMC2, CMIP, CMTM1, CMTM2, CMTM3, CMTM4, CMTR2, CNTNAP4, COG4, COG8, COTL1, COX4I1, CPHXL, CPHXL2, CPNE7, CRISPLD2, CTCF, CTCF-DT, CTRB1, CTRB2, CTRL, CTU2, CYB5B, CYBA, DBNDD1, DDX19A, DDX19A-DT, DDX19B, DDX28, DEF8, DERPC, DHODH, DHX38, DNAAF1, DPEP1, DPEP2, DPEP2NB, DPEP3, DUS2, DUXB, DYNC1LI2, DYNC1LI2-DT, DYNLRB2, DYNLRB2-AS1, E2F4, EDC4, ELMO3, EMC8, ENKD1, ESRP2, EXOC3L1, EXOSC6, FA2H, FANCA, FBXL8, FBXO31, FCSK, FENDRR, FHOD1, FLJ30679, FOXC2, FOXC2-AS1, FOXF1, FOXL1, FRA16B, GABARAPL2, GALNS, GAN, GAS8, GAS8-AS1, GCSH, GFOD2, GINS2, GLG1, GSE1, HAS3, HCCAT5, HP, HPR, HSBP1, HSD11B2, HSD17B2, HSD17B2-AS1, HSDL1, HSF4, HYDIN, IL17C, IL34, IRF8, IST1, JPH3, KARS1, KCNG4, KCTD19, KIAA0513, KLHDC4, KLHL36, LCAT, LDHD, LINC00304, LINC00311, LINC00917, LINC00920, LINC00922, LINC01081, LINC01082, LINC01227, LINC01228, LINC01229, LINC01572, LINC02125, LINC02126, LINC02131, LINC02135, LINC02136, LINC02138, LINC02139, LINC02166, LINC02176, LINC02181, LINC02182, LINC02188, LINC02189, LOC100129215, LOC100129617, LOC100129697, LOC100287036, LOC100289580, LOC100505942, LOC100506281, LOC101927793, LOC101927817, LOC101927863, LOC101928230, LOC101928392, LOC101928417, LOC101928446, LOC101928557, LOC101928682, LOC101928708, LOC102724467, LOC105371328, LOC105371335, LOC105371347, LOC105371401, LOC105371414, LOC105376772, LOC105943583, LOC107984862, LOC108251797, LOC108254672, LOC108281164, LOC109029536, LOC110120569, LOC110120570, LOC110120571, LOC110120572, LOC110120573, LOC110120824, LOC110121410, LOC110121411, LOC110121436, LOC110121443, LOC110121450, LOC110121468, LOC111365156, LOC111365213, LOC111413011, LOC111413029, LOC111429607, LOC111556152, LOC112469016, LOC112486201, LOC112486202, LOC112486203, LOC112486204, LOC112486205, LOC112486206, LOC112486207, LOC112486208, LOC112486209, LOC112486210, LOC112486211, LOC112486212, LOC112486213, LOC112486214, LOC112486215, LOC112486216, LOC112486217, LOC112486218, LOC112486219, LOC112486220, LOC112486221, LOC112486222, LOC112486223, LOC112486227, LOC113939956, LOC116276453, LOC121587549, LOC121587550, LOC121587551, LOC121587552, LOC121587553, LOC121587554, LOC121587555, LOC121587556, LOC121587557, LOC121587558, LOC121587559, LOC121587560, LOC121587561, LOC121587562, LOC121587563, LOC121587564, LOC121587565, LOC121587566, LOC121587567, LOC121847990, LOC121847991, LOC121847992, LOC121847993, LOC121847994, LOC121847995, LOC121847996, LOC121847997, LOC121847998, LOC121847999, LOC121848000, LOC121848001, LOC125177332, LOC125177333, LOC125177334, LOC125177336, LOC125177337, LOC125177338, LOC125177339, LOC125177340, LOC125177341, LOC125177342, LOC125177343, LOC125177344, LOC125177345, LOC125177346, LOC125177347, LOC125177348, LOC125177349, LOC125177350, LOC125177351, LOC125177352, LOC125177353, LOC125177354, LOC125177355, LOC125177356, LOC125177357, LOC125177358, LOC125177359, LOC125177360, LOC125177361, LOC125177362, LOC125177363, LOC125177365, LOC125177366, LOC125177367, LOC125177368, LOC125177380, LOC125177381, LOC125177382, LOC125177383, LOC125177384, LOC125177385, LOC125177386, LOC125177387, LOC125177388, LOC125177389, LOC125177390, LOC125177391, LOC125177392, LOC125177393, LOC125177394, LOC125177395, LOC125177396, LOC125177397, LOC126862369, LOC126862370, LOC126862371, LOC126862372, LOC126862373, LOC126862374, LOC126862375, LOC126862376, LOC126862377, LOC126862378, LOC126862379, LOC126862380, LOC126862381, LOC126862382, LOC126862383, LOC126862384, LOC126862385, LOC126862386, LOC126862387, LOC126862388, LOC126862389, LOC126862390, LOC126862391, LOC126862392, LOC126862393, LOC126862394, LOC126862395, LOC126862396, LOC126862397, LOC126862398, LOC126862399, LOC126862400, LOC126862401, LOC126862402, LOC126862403, LOC126862404, LOC126862405, LOC126862406, LOC126862407, LOC126862408, LOC126862409, LOC126862410, LOC126862411, LOC126862412, LOC126862413, LOC126862414, LOC126862415, LOC126862416, LOC126862417, LOC126862418, LOC126862419, LOC126862420, LOC126862421, LOC126862422, LOC126862423, LOC126862424, LOC126862425, LOC126862426, LOC126862427, LOC126862428, LOC126862429, LOC126862430, LOC126862431, LOC126862432, LOC126862433, LOC126862434, LOC126862435, LOC126862436, LOC126862437, LOC126862438, LOC126862439, LOC126862440, LOC126862441, LOC126862442, LOC126862443, LOC126862444, LOC126862445, LOC126862446, LOC126862447, LOC126862448, LOC126862449, LOC126862450, LOC126862451, LOC126862453, LOC128462377, LOC128772395, LOC128772396, LOC128772397, LOC128772398, LOC128772399, LOC128772400, LOC128772401, LOC128772402, LOC128772403, LOC128772404, LOC128772405, LOC128772406, LOC128772407, LOC128772408, LOC128772409, LOC128772410, LOC128772411, LOC128772412, LOC128772413, LOC128772414, LOC128772415, LOC128772416, LOC128772417, LOC128772418, LOC128772419, LOC128772420, LOC128772421, LOC128779116, LOC128822932, LOC128822933, LOC128849170, LOC128849171, LOC128849173, LOC339059, LOC400541, LOC400553, LOC654780, LOHAN2, LRRC29, LRRC36, MAF, MAFTRR, MAP1LC3B, MARVELD3, MATCAP1, MBTPS1, MC1R, MEAK7, MIR11401, MIR12128, MIR140, MIR1538, MIR1910, MIR1972-2, MIR3182, MIR328, MIR4719, MIR4720, MIR4722, MIR5093, MIR5189, MIR6504, MIR6773, MIR6774, MIR6775, MIR7854, MIR8058, MLKL, MLYCD, MON1B, MPHOSPH6, MTHFSD, MTSS2, MVD, NAE1, NECAB2, NFAT5, NFATC3, NIP7, NOB1, NOL3, NPIPB15, NQO1, NQO1-DT, NRN1L, NUDT7, NUTF2, OSGIN1, PABPN1L, PARD6A, PDF, PDP2, PDPR, PHAF1, PHLPP2, PIEZO1, PKD1L2, PKD1L3, PLA2G15, PLCG2, PLEKHG4, PMFBP1, PRDM7, PRMT7, PSKH1, PSMB10, PSMD7, PSMD7-DT, RANBP10, RFWD3, RIPOR1, RNF166, RPL13, RRAD, SDR42E1, SF3B3, SLC12A4, SLC22A31, SLC38A8, SLC7A5, SLC7A6, SLC7A6OS, SLC9A5, SMPD3, SNAI3, SNAI3-AS1, SNORA119, SNORA70D, SNORD111, SNORD111B, SNORD13H, SNORD68, SNORD71, SNTB2, SPATA2L, SPATA33, SPG7, SPIRE2, ST3GAL2, SYCE1L, TAF1C, TANGO6, TAT, TAT-AS1, TCF25, TERB1, TERF2, TERF2IP, THAP11, TK2, TLE7, TMED6, TMEM170A, TMEM208, TMEM231, TPPP3, TRADD, TRAPPC2L, TRG-GCC2-4, TRG-GCC2-5, TRG-GCC3-1, TRG-GCC5-1, TRK-TTT1-1, TRM-CAT2-1, TRM-CAT6-1, TSNAXIP1, TUBB3, TXNL4B, USP10, UTP4, VAC14, VAC14-AS1, VAT1L, VPS4A, VPS9D1, VPS9D1-AS1, WDR59, WFDC1, WWOX, WWOX-AS1, WWP2, ZC3H18, ZC3H18-AS1, ZCCHC14, ZCCHC14-DT, ZDHHC1, ZDHHC7, ZFHX3, ZFHX3-AS1, ZFP1, ZFP90, ZFPM1, ZFPM1-AS1, ZNF19, ZNF23, ZNF276, ZNF469, ZNF778, ZNF821, ZNRF1 | | See cases | Pathogenic (Dec 22, 2010) | no assertion criteria provided |
| - GRCh37:
- Chr16:65347298-90148393
- GRCh38:
- Chr16:65313395-90081985
| AARS1, ACD, ACSF3, ADAD2, ADAMTS18, ADAT1, AGRP, ANKRD11, AP1G1, APRT, ARLNC1, ATMIN, ATP2C2, ATP2C2-AS1, ATP6V0D1, ATP6V0D1-DT, ATXN1L, B3GNT9, BANP, BCAR1, BCO1, BEAN1, BEAN1-AS1, C16orf46, C16orf47, C16orf74, C16orf86, C16orf95, C16orf95-DT, CA5A, CA7, CALB2, CARMIL2, CBFA2T3, CBFB, CDH1, CDH13, CDH13-AS1, CDH13-AS2, CDH15, CDH16, CDH3, CDH5, CDK10, CDT1, CDYL2, CEDORA, CENPBD1, CENPN, CENPT, CES2, CES3, CES4A, CFDP1, CHMP1A, CHST4, CHST5, CHST6, CHTF8, CIAO2B, CIBAR2, CKLF, CKLF-CMTM1, CLEC18A, CLEC18B, CLEC18C, CLEC3A, CMC2, CMIP, CMTM1, CMTM2, CMTM3, CMTM4, CMTR2, CNTNAP4, COG4, COG8, COTL1, COX4I1, CPHXL, CPHXL2, CPNE7, CRISPLD2, CTCF, CTCF-DT, CTRB1, CTRB2, CTRL, CTU2, CYB5B, CYBA, DBNDD1, DDX19A, DDX19A-DT, DDX19B, DDX28, DEF8, DERPC, DHODH, DHX38, DNAAF1, DPEP1, DPEP2, DPEP2NB, DPEP3, DUS2, DUXB, DYNC1LI2, DYNC1LI2-DT, DYNLRB2, DYNLRB2-AS1, E2F4, EDC4, ELMO3, EMC8, ENKD1, ESRP2, EXOC3L1, EXOSC6, FA2H, FANCA, FBXL8, FBXO31, FCSK, FENDRR, FHOD1, FLJ30679, FOXC2, FOXC2-AS1, FOXF1, FOXL1, FRA16B, GABARAPL2, GALNS, GAN, GAS8, GAS8-AS1, GCSH, GFOD2, GINS2, GLG1, GSE1, HAS3, HCCAT5, HP, HPR, HSBP1, HSD11B2, HSD17B2, HSD17B2-AS1, HSDL1, HSF4, HYDIN, IL17C, IL34, IRF8, IST1, JPH3, KARS1, KCNG4, KCTD19, KIAA0513, KLHDC4, KLHL36, LCAT, LDHD, LINC00304, LINC00311, LINC00917, LINC00920, LINC00922, LINC01081, LINC01082, LINC01227, LINC01228, LINC01229, LINC01572, LINC02125, LINC02131, LINC02135, LINC02136, LINC02138, LINC02139, LINC02166, LINC02176, LINC02181, LINC02182, LINC02188, LINC02189, LOC100129215, LOC100129617, LOC100129697, LOC100287036, LOC100289580, LOC100505942, LOC100506281, LOC101927793, LOC101927817, LOC101927863, LOC101928230, LOC101928392, LOC101928417, LOC101928446, LOC101928557, LOC101928682, LOC101928708, LOC102724467, LOC105371328, LOC105371335, LOC105371347, LOC105371401, LOC105371414, LOC105376772, LOC105943583, LOC107984862, LOC108251797, LOC108254672, LOC108281164, LOC109029536, LOC110120569, LOC110120570, LOC110120571, LOC110120572, LOC110120573, LOC110120824, LOC110121410, LOC110121411, LOC110121436, LOC110121443, LOC110121450, LOC110121468, LOC111365156, LOC111365213, LOC111413011, LOC111413029, LOC111429607, LOC111556152, LOC112469016, LOC112486201, LOC112486202, LOC112486203, LOC112486204, LOC112486205, LOC112486206, LOC112486207, LOC112486208, LOC112486209, LOC112486210, LOC112486211, LOC112486212, LOC112486213, LOC112486214, LOC112486215, LOC112486216, LOC112486217, LOC112486218, LOC112486219, LOC112486220, LOC112486221, LOC112486222, LOC112486223, LOC112486227, LOC113939956, LOC116276453, LOC121587549, LOC121587550, LOC121587551, LOC121587552, LOC121587553, LOC121587554, LOC121587555, LOC121587556, LOC121587557, LOC121587558, LOC121587559, LOC121587560, LOC121587561, LOC121587562, LOC121587563, LOC121587564, LOC121587565, LOC121587566, LOC121587567, LOC121847990, LOC121847991, LOC121847992, LOC121847993, LOC121847994, LOC121847995, LOC121847996, LOC121847997, LOC121847998, LOC121847999, LOC121848000, LOC121848001, LOC125177332, LOC125177333, LOC125177334, LOC125177336, LOC125177337, LOC125177338, LOC125177339, LOC125177340, LOC125177341, LOC125177342, LOC125177343, LOC125177344, LOC125177345, LOC125177346, LOC125177347, LOC125177348, LOC125177349, LOC125177350, LOC125177351, LOC125177352, LOC125177353, LOC125177354, LOC125177355, LOC125177356, LOC125177357, LOC125177358, LOC125177359, LOC125177360, LOC125177361, LOC125177362, LOC125177363, LOC125177365, LOC125177366, LOC125177367, LOC125177368, LOC125177380, LOC125177381, LOC125177382, LOC125177383, LOC125177384, LOC125177385, LOC125177386, LOC125177387, LOC125177388, LOC125177389, LOC125177390, LOC125177391, LOC125177392, LOC125177393, LOC125177394, LOC125177395, LOC125177396, LOC125177397, LOC126862370, LOC126862371, LOC126862372, LOC126862373, LOC126862374, LOC126862375, LOC126862376, LOC126862377, LOC126862378, LOC126862379, LOC126862380, LOC126862381, LOC126862382, LOC126862383, LOC126862384, LOC126862385, LOC126862386, LOC126862387, LOC126862388, LOC126862389, LOC126862390, LOC126862391, LOC126862392, LOC126862393, LOC126862394, LOC126862395, LOC126862396, LOC126862397, LOC126862398, LOC126862399, LOC126862400, LOC126862401, LOC126862402, LOC126862403, LOC126862404, LOC126862405, LOC126862406, LOC126862407, LOC126862408, LOC126862409, LOC126862410, LOC126862411, LOC126862412, LOC126862413, LOC126862414, LOC126862415, LOC126862416, LOC126862417, LOC126862418, LOC126862419, LOC126862420, LOC126862421, LOC126862422, LOC126862423, LOC126862424, LOC126862425, LOC126862426, LOC126862427, LOC126862428, LOC126862429, LOC126862430, LOC126862431, LOC126862432, LOC126862433, LOC126862434, LOC126862435, LOC126862436, LOC126862437, LOC126862438, LOC126862439, LOC126862440, LOC126862441, LOC126862442, LOC126862443, LOC126862444, LOC126862445, LOC126862446, LOC126862447, LOC126862448, LOC126862449, LOC126862450, LOC126862451, LOC126862453, LOC128462377, LOC128772395, LOC128772396, LOC128772397, LOC128772398, LOC128772399, LOC128772400, LOC128772401, LOC128772402, LOC128772403, LOC128772404, LOC128772405, LOC128772406, LOC128772407, LOC128772408, LOC128772409, LOC128772410, LOC128772411, LOC128772412, LOC128772413, LOC128772414, LOC128772415, LOC128772416, LOC128772417, LOC128772418, LOC128772419, LOC128772420, LOC128772421, LOC128779116, LOC128822932, LOC128822933, LOC128849170, LOC128849171, LOC128849173, LOC339059, LOC400541, LOC400553, LOC654780, LOHAN2, LRRC29, LRRC36, MAF, MAFTRR, MAP1LC3B, MARVELD3, MATCAP1, MBTPS1, MC1R, MEAK7, MIR11401, MIR12128, MIR140, MIR1538, MIR1910, MIR1972-2, MIR3182, MIR328, MIR4719, MIR4720, MIR4722, MIR5093, MIR5189, MIR6504, MIR6773, MIR6774, MIR6775, MIR7854, MIR8058, MLKL, MLYCD, MON1B, MPHOSPH6, MTHFSD, MTSS2, MVD, NAE1, NECAB2, NFAT5, NFATC3, NIP7, NOB1, NOL3, NPIPB15, NQO1, NQO1-DT, NRN1L, NUDT7, NUTF2, OSGIN1, PABPN1L, PARD6A, PDF, PDP2, PDPR, PHAF1, PHLPP2, PIEZO1, PKD1L2, PKD1L3, PLA2G15, PLCG2, PLEKHG4, PMFBP1, PRDM7, PRMT7, PSKH1, PSMB10, PSMD7, PSMD7-DT, RANBP10, RFWD3, RIPOR1, RNF166, RPL13, RRAD, SDR42E1, SF3B3, SLC12A4, SLC22A31, SLC38A8, SLC7A5, SLC7A6, SLC7A6OS, SLC9A5, SMPD3, SNAI3, SNAI3-AS1, SNORA119, SNORA70D, SNORD111, SNORD111B, SNORD13H, SNORD68, SNORD71, SNTB2, SPATA2L, SPATA33, SPG7, SPIRE2, ST3GAL2, SYCE1L, TAF1C, TANGO6, TAT, TAT-AS1, TCF25, TERB1, TERF2, TERF2IP, THAP11, TK2, TLE7, TMED6, TMEM170A, TMEM208, TMEM231, TPPP3, TRADD, TRAPPC2L, TRG-GCC2-4, TRG-GCC2-5, TRG-GCC3-1, TRG-GCC5-1, TRK-TTT1-1, TRM-CAT2-1, TRM-CAT6-1, TSNAXIP1, TUBB3, TXNL4B, USP10, UTP4, VAC14, VAC14-AS1, VAT1L, VPS4A, VPS9D1, VPS9D1-AS1, WDR59, WFDC1, WWOX, WWOX-AS1, WWP2, ZC3H18, ZC3H18-AS1, ZCCHC14, ZCCHC14-DT, ZDHHC1, ZDHHC7, ZFHX3, ZFHX3-AS1, ZFP1, ZFP90, ZFPM1, ZFPM1-AS1, ZNF19, ZNF23, ZNF276, ZNF469, ZNF778, ZNF821, ZNRF1 | | See cases | Pathogenic (Aug 12, 2011) | criteria provided, single submitter |
| - GRCh37:
- Chr16:65545386-90163403
- GRCh38:
- Chr16:65511483-90096995
| ADAT1, AARS1, ACD, ACSF3, ADAD2, ADAMTS18, AGRP, ANKRD11, AP1G1, APRT, ARLNC1, ATMIN, ATP2C2, ATP2C2-AS1, ATP6V0D1, ATP6V0D1-DT, ATXN1L, B3GNT9, BANP, BCAR1, BCO1, BEAN1, BEAN1-AS1, C16orf46, C16orf47, C16orf74, C16orf86, C16orf95, C16orf95-DT, CA5A, CA7, CALB2, CARMIL2, CBFA2T3, CBFB, CDH1, CDH13, CDH13-AS1, CDH13-AS2, CDH15, CDH16, CDH3, CDH5, CDK10, CDT1, CDYL2, CEDORA, CENPBD1, CENPN, CENPT, CES2, CES3, CES4A, CFDP1, CHMP1A, CHST4, CHST5, CHST6, CHTF8, CIAO2B, CIBAR2, CKLF, CKLF-CMTM1, CLEC18A, CLEC18B, CLEC18C, CLEC3A, CMC2, CMIP, CMTM1, CMTM2, CMTM3, CMTM4, CMTR2, CNTNAP4, COG4, COG8, COTL1, COX4I1, CPHXL, CPHXL2, CPNE7, CRISPLD2, CTCF, CTCF-DT, CTRB1, CTRB2, CTRL, CTU2, CYB5B, CYBA, DBNDD1, DDX19A, DDX19A-DT, DDX19B, DDX28, DEF8, DERPC, DHODH, DHX38, DNAAF1, DPEP1, DPEP2, DPEP2NB, DPEP3, DUS2, DUXB, DYNC1LI2, DYNC1LI2-DT, DYNLRB2, DYNLRB2-AS1, E2F4, EDC4, ELMO3, EMC8, ENKD1, ESRP2, EXOC3L1, EXOSC6, FA2H, FANCA, FBXL8, FBXO31, FCSK, FENDRR, FHOD1, FLJ30679, FOXC2, FOXC2-AS1, FOXF1, FOXL1, GABARAPL2, GALNS, GAN, GAS8, GAS8-AS1, GCSH, GFOD2, GINS2, GLG1, GSE1, HAS3, HCCAT5, HP, HPR, HSBP1, HSD11B2, HSD17B2, HSD17B2-AS1, HSDL1, HSF4, HYDIN, IL17C, IL34, IRF8, IST1, JPH3, KARS1, KCNG4, KCTD19, KIAA0513, KLHDC4, KLHL36, LCAT, LDHD, LINC00304, LINC00311, LINC00917, LINC00920, LINC00922, LINC01081, LINC01082, LINC01227, LINC01228, LINC01229, LINC01572, LINC02125, LINC02131, LINC02135, LINC02136, LINC02138, LINC02139, LINC02166, LINC02176, LINC02181, LINC02182, LINC02188, LINC02189, LOC100129215, LOC100129617, LOC100129697, LOC100287036, LOC100289580, LOC100505942, LOC100506281, LOC101927793, LOC101927817, LOC101927863, LOC101928230, LOC101928392, LOC101928417, LOC101928446, LOC101928557, LOC101928682, LOC101928708, LOC102724467, LOC105371328, LOC105371335, LOC105371347, LOC105371401, LOC105371414, LOC105376772, LOC105943583, LOC107984862, LOC108251797, LOC108254672, LOC108281164, LOC109029536, LOC110120569, LOC110120570, LOC110120571, LOC110120572, LOC110120573, LOC110120824, LOC110121410, LOC110121411, LOC110121436, LOC110121443, LOC110121450, LOC110121468, LOC111365156, LOC111365213, LOC111413011, LOC111413029, LOC111429607, LOC111556152, LOC112469016, LOC112486201, LOC112486202, LOC112486203, LOC112486204, LOC112486205, LOC112486206, LOC112486207, LOC112486208, LOC112486209, LOC112486210, LOC112486211, LOC112486212, LOC112486213, LOC112486214, LOC112486215, LOC112486216, LOC112486217, LOC112486218, LOC112486219, LOC112486220, LOC112486221, LOC112486222, LOC112486223, LOC112486227, LOC113939956, LOC116276453, LOC121587549, LOC121587550, LOC121587551, LOC121587552, LOC121587553, LOC121587554, LOC121587555, LOC121587556, LOC121587557, LOC121587558, LOC121587559, LOC121587560, LOC121587561, LOC121587562, LOC121587563, LOC121587564, LOC121587565, LOC121587566, LOC121587567, LOC121847990, LOC121847991, LOC121847992, LOC121847993, LOC121847994, LOC121847995, LOC121847996, LOC121847997, LOC121847998, LOC121847999, LOC121848000, LOC121848001, LOC125177332, LOC125177333, LOC125177334, LOC125177336, LOC125177337, LOC125177338, LOC125177339, LOC125177340, LOC125177341, LOC125177342, LOC125177343, LOC125177344, LOC125177345, LOC125177346, LOC125177347, LOC125177348, LOC125177349, LOC125177350, LOC125177351, LOC125177352, LOC125177353, LOC125177354, LOC125177355, LOC125177356, LOC125177357, LOC125177358, LOC125177359, LOC125177360, LOC125177361, LOC125177362, LOC125177363, LOC125177365, LOC125177366, LOC125177367, LOC125177368, LOC125177380, LOC125177381, LOC125177382, LOC125177383, LOC125177384, LOC125177385, LOC125177386, LOC125177387, LOC125177388, LOC125177389, LOC125177390, LOC125177391, LOC125177392, LOC125177393, LOC125177394, LOC125177395, LOC125177396, LOC125177397, LOC126862371, LOC126862372, LOC126862373, LOC126862374, LOC126862375, LOC126862376, LOC126862377, LOC126862378, LOC126862379, LOC126862380, LOC126862381, LOC126862382, LOC126862383, LOC126862384, LOC126862385, LOC126862386, LOC126862387, LOC126862388, LOC126862389, LOC126862390, LOC126862391, LOC126862392, LOC126862393, LOC126862394, LOC126862395, LOC126862396, LOC126862397, LOC126862398, LOC126862399, LOC126862400, LOC126862401, LOC126862402, LOC126862403, LOC126862404, LOC126862405, LOC126862406, LOC126862407, LOC126862408, LOC126862409, LOC126862410, LOC126862411, LOC126862412, LOC126862413, LOC126862414, LOC126862415, LOC126862416, LOC126862417, LOC126862418, LOC126862419, LOC126862420, LOC126862421, LOC126862422, LOC126862423, LOC126862424, LOC126862425, LOC126862426, LOC126862427, LOC126862428, LOC126862429, LOC126862430, LOC126862431, LOC126862432, LOC126862433, LOC126862434, LOC126862435, LOC126862436, LOC126862437, LOC126862438, LOC126862439, LOC126862440, LOC126862441, LOC126862442, LOC126862443, LOC126862444, LOC126862445, LOC126862446, LOC126862447, LOC126862448, LOC126862449, LOC126862450, LOC126862451, LOC126862453, LOC128462377, LOC128772395, LOC128772396, LOC128772397, LOC128772398, LOC128772399, LOC128772400, LOC128772401, LOC128772402, LOC128772403, LOC128772404, LOC128772405, LOC128772406, LOC128772407, LOC128772408, LOC128772409, LOC128772410, LOC128772411, LOC128772412, LOC128772413, LOC128772414, LOC128772415, LOC128772416, LOC128772417, LOC128772418, LOC128772419, LOC128772420, LOC128772421, LOC128779116, LOC128822932, LOC128822933, LOC128849170, LOC128849171, LOC128849173, LOC339059, LOC400541, LOC400553, LOC654780, LOHAN2, LRRC29, LRRC36, MAF, MAFTRR, MAP1LC3B, MARVELD3, MATCAP1, MBTPS1, MC1R, MEAK7, MIR11401, MIR12128, MIR140, MIR1538, MIR1910, MIR1972-2, MIR3182, MIR328, MIR4719, MIR4720, MIR4722, MIR5093, MIR5189, MIR6504, MIR6773, MIR6774, MIR6775, MIR7854, MIR8058, MLKL, MLYCD, MON1B, MPHOSPH6, MTHFSD, MTSS2, MVD, NAE1, NECAB2, NFAT5, NFATC3, NIP7, NOB1, NOL3, NPIPB15, NQO1, NQO1-DT, NRN1L, NUDT7, NUTF2, OSGIN1, PABPN1L, PARD6A, PDF, PDP2, PDPR, PHAF1, PHLPP2, PIEZO1, PKD1L2, PKD1L3, PLA2G15, PLCG2, PLEKHG4, PMFBP1, PRDM7, PRMT7, PSKH1, PSMB10, PSMD7, PSMD7-DT, RANBP10, RFWD3, RIPOR1, RNF166, RPL13, RRAD, SDR42E1, SF3B3, SLC12A4, SLC22A31, SLC38A8, SLC7A5, SLC7A6, SLC7A6OS, SLC9A5, SMPD3, SNAI3, SNAI3-AS1, SNORA119, SNORA70D, SNORD111, SNORD111B, SNORD13H, SNORD68, SNORD71, SNTB2, SPATA2L, SPATA33, SPG7, SPIRE2, ST3GAL2, SYCE1L, TAF1C, TANGO6, TAT, TAT-AS1, TCF25, TERB1, TERF2, TERF2IP, THAP11, TK2, TLE7, TMED6, TMEM170A, TMEM208, TMEM231, TPPP3, TRADD, TRAPPC2L, TRG-GCC2-4, TRG-GCC2-5, TRG-GCC3-1, TRG-GCC5-1, TRK-TTT1-1, TRM-CAT2-1, TRM-CAT6-1, TSNAXIP1, TUBB3, TXNL4B, USP10, UTP4, VAC14, VAC14-AS1, VAT1L, VPS4A, VPS9D1, VPS9D1-AS1, WDR59, WFDC1, WWOX, WWOX-AS1, WWP2, ZC3H18, ZC3H18-AS1, ZCCHC14, ZCCHC14-DT, ZDHHC1, ZDHHC7, ZFHX3, ZFHX3-AS1, ZFP1, ZFP90, ZFPM1, ZFPM1-AS1, ZNF19, ZNF23, ZNF276, ZNF469, ZNF778, ZNF821, ZNRF1 | | See cases | Pathogenic (Jul 2, 2012) | no assertion criteria provided |
| - GRCh37:
- Chr16:70548534-90148393
- GRCh38:
- Chr16:70514631-90081985
| ACSF3, ADAD2, ADAMTS18, ADAT1, ANKRD11, AP1G1, APRT, ARLNC1, ATMIN, ATP2C2, ATP2C2-AS1, ATXN1L, BANP, BCAR1, BCO1, C16orf46, C16orf47, C16orf74, C16orf95, C16orf95-DT, CA5A, CALB2, CBFA2T3, CDH13, CDH13-AS1, CDH13-AS2, CDH15, CDK10, CDT1, CDYL2, CEDORA, CENPBD1, CENPN, CFDP1, CHMP1A, CHST4, CHST5, CHST6, CIBAR2, CLEC18B, CLEC3A, CMC2, CMIP, CMTR2, CNTNAP4, COG4, COTL1, COX4I1, CPHXL, CPHXL2, CPNE7, CRISPLD2, CTRB1, CTRB2, CTU2, CYBA, DBNDD1, DEF8, DHODH, DHX38, DNAAF1, DPEP1, DUXB, DYNLRB2, DYNLRB2-AS1, EMC8, FA2H, FANCA, FBXO31, FENDRR, FLJ30679, FOXC2, FOXC2-AS1, FOXF1, FOXL1, GABARAPL2, GALNS, GAN, GAS8, GAS8-AS1, GCSH, GINS2, GLG1, GSE1, HCCAT5, HP, HPR, HSBP1, HSD17B2, HSD17B2-AS1, HSDL1, HYDIN, IL17C, IL34, IRF8, IST1, JPH3, KARS1, KCNG4, KIAA0513, KLHDC4, KLHL36, LDHD, LINC00304, LINC00311, LINC00917, LINC01081, LINC01082, LINC01227, LINC01228, LINC01229, LINC01572, LINC02125, LINC02131, LINC02135, LINC02136, LINC02138, LINC02139, LINC02166, LINC02176, LINC02181, LINC02182, LINC02188, LINC02189, LOC100129215, LOC100129617, LOC100129697, LOC100287036, LOC100289580, LOC100506281, LOC101927793, LOC101927817, LOC101927863, LOC101928230, LOC101928392, LOC101928417, LOC101928446, LOC101928557, LOC101928682, LOC101928708, LOC102724467, LOC105371335, LOC105371347, LOC105371401, LOC105371414, LOC105376772, LOC105943583, LOC107984862, LOC108251797, LOC108254672, LOC108281164, LOC109029536, LOC110120569, LOC110120570, LOC110120571, LOC110120572, LOC110120573, LOC110120824, LOC110121410, LOC110121411, LOC110121436, LOC110121450, LOC110121468, LOC111365156, LOC111365213, LOC111413011, LOC111413029, LOC111429607, LOC111556152, LOC112486205, LOC112486206, LOC112486207, LOC112486208, LOC112486209, LOC112486210, LOC112486211, LOC112486212, LOC112486213, LOC112486214, LOC112486215, LOC112486216, LOC112486217, LOC112486218, LOC112486219, LOC112486220, LOC112486221, LOC112486222, LOC112486223, LOC112486227, LOC113939956, LOC116276453, LOC121587553, LOC121587554, LOC121587555, LOC121587556, LOC121587557, LOC121587558, LOC121587559, LOC121587560, LOC121587561, LOC121587562, LOC121587563, LOC121587564, LOC121587565, LOC121587566, LOC121587567, LOC121847990, LOC121847991, LOC121847992, LOC121847993, LOC121847994, LOC121847995, LOC121847996, LOC121847997, LOC121847998, LOC121847999, LOC121848000, LOC121848001, LOC125177346, LOC125177347, LOC125177348, LOC125177349, LOC125177350, LOC125177351, LOC125177352, LOC125177353, LOC125177354, LOC125177355, LOC125177356, LOC125177357, LOC125177358, LOC125177359, LOC125177360, LOC125177361, LOC125177362, LOC125177363, LOC125177365, LOC125177366, LOC125177367, LOC125177368, LOC125177380, LOC125177381, LOC125177382, LOC125177383, LOC125177384, LOC125177385, LOC125177386, LOC125177387, LOC125177388, LOC125177389, LOC125177390, LOC125177391, LOC125177392, LOC125177393, LOC125177394, LOC125177395, LOC125177396, LOC125177397, LOC126862387, LOC126862388, LOC126862389, LOC126862390, LOC126862391, LOC126862392, LOC126862393, LOC126862394, LOC126862395, LOC126862396, LOC126862397, LOC126862398, LOC126862399, LOC126862400, LOC126862401, LOC126862402, LOC126862403, LOC126862404, LOC126862405, LOC126862406, LOC126862407, LOC126862408, LOC126862409, LOC126862410, LOC126862411, LOC126862412, LOC126862413, LOC126862414, LOC126862415, LOC126862416, LOC126862417, LOC126862418, LOC126862419, LOC126862420, LOC126862421, LOC126862422, LOC126862423, LOC126862424, LOC126862425, LOC126862426, LOC126862427, LOC126862428, LOC126862429, LOC126862430, LOC126862431, LOC126862432, LOC126862433, LOC126862434, LOC126862435, LOC126862436, LOC126862437, LOC126862438, LOC126862439, LOC126862440, LOC126862441, LOC126862442, LOC126862443, LOC126862444, LOC126862445, LOC126862446, LOC126862447, LOC126862448, LOC126862449, LOC126862450, LOC126862451, LOC126862453, LOC128462377, LOC128772415, LOC128772416, LOC128772417, LOC128772418, LOC128772419, LOC128772420, LOC128772421, LOC128779116, LOC128849171, LOC128849173, LOC339059, LOC400553, LOC654780, LOHAN2, MAF, MAFTRR, MAP1LC3B, MARVELD3, MBTPS1, MC1R, MEAK7, MIR11401, MIR12128, MIR1910, MIR3182, MIR4719, MIR4720, MIR4722, MIR5093, MIR5189, MIR6504, MIR6774, MIR6775, MIR7854, MIR8058, MLKL, MLYCD, MON1B, MPHOSPH6, MTHFSD, MTSS2, MVD, NECAB2, NPIPB15, NUDT7, OSGIN1, PABPN1L, PHLPP2, PIEZO1, PKD1L2, PKD1L3, PLCG2, PMFBP1, PRDM7, PSMD7, PSMD7-DT, RFWD3, RNF166, RPL13, SDR42E1, SF3B3, SLC22A31, SLC38A8, SLC7A5, SNAI3, SNAI3-AS1, SNORA119, SNORA70D, SNORD111, SNORD111B, SNORD68, SNORD71, SPATA2L, SPATA33, SPG7, SPIRE2, SYCE1L, TAF1C, TAT, TAT-AS1, TCF25, TERF2IP, TLE7, TMEM170A, TMEM231, TRAPPC2L, TRG-GCC2-4, TRG-GCC2-5, TRG-GCC3-1, TRG-GCC5-1, TRK-TTT1-1, TRM-CAT2-1, TRM-CAT6-1, TUBB3, TXNL4B, USP10, VAC14, VAC14-AS1, VAT1L, VPS9D1, VPS9D1-AS1, WDR59, WFDC1, WWOX, WWOX-AS1, ZC3H18, ZC3H18-AS1, ZCCHC14, ZCCHC14-DT, ZDHHC7, ZFHX3, ZFHX3-AS1, ZFP1, ZFPM1, ZFPM1-AS1, ZNF19, ZNF23, ZNF276, ZNF469, ZNF778, ZNF821, ZNRF1 | | See cases | Pathogenic (Aug 12, 2011) | criteria provided, single submitter |
| - GRCh37:
- Chr16:70783301-90163403
- GRCh38:
- Chr16:70749398-90096995
| ACSF3, ADAD2, ADAMTS18, ADAT1, ANKRD11, AP1G1, APRT, ARLNC1, ATMIN, ATP2C2, ATP2C2-AS1, ATXN1L, BANP, BCAR1, BCO1, C16orf46, C16orf47, C16orf74, C16orf95, C16orf95-DT, CA5A, CALB2, CBFA2T3, CDH13, CDH13-AS1, CDH13-AS2, CDH15, CDK10, CDT1, CDYL2, CEDORA, CENPBD1, CENPN, CFDP1, CHMP1A, CHST4, CHST5, CHST6, CIBAR2, CLEC18B, CLEC3A, CMC2, CMIP, CMTR2, CNTNAP4, COTL1, COX4I1, CPHXL, CPHXL2, CPNE7, CRISPLD2, CTRB1, CTRB2, CTU2, CYBA, DBNDD1, DEF8, DHODH, DHX38, DNAAF1, DPEP1, DUXB, DYNLRB2, DYNLRB2-AS1, EMC8, FA2H, FANCA, FBXO31, FENDRR, FLJ30679, FOXC2, FOXC2-AS1, FOXF1, FOXL1, GABARAPL2, GALNS, GAN, GAS8, GAS8-AS1, GCSH, GINS2, GLG1, GSE1, HCCAT5, HP, HPR, HSBP1, HSD17B2, HSD17B2-AS1, HSDL1, HYDIN, IL17C, IRF8, IST1, JPH3, KARS1, KCNG4, KIAA0513, KLHDC4, KLHL36, LDHD, LINC00304, LINC00311, LINC00917, LINC01081, LINC01082, LINC01227, LINC01228, LINC01229, LINC01572, LINC02125, LINC02131, LINC02135, LINC02136, LINC02138, LINC02139, LINC02166, LINC02176, LINC02181, LINC02182, LINC02188, LINC02189, LOC100129215, LOC100129617, LOC100129697, LOC100287036, LOC100289580, LOC100506281, LOC101927793, LOC101927817, LOC101927863, LOC101928230, LOC101928392, LOC101928417, LOC101928446, LOC101928557, LOC101928682, LOC101928708, LOC102724467, LOC105371335, LOC105371347, LOC105371401, LOC105371414, LOC105376772, LOC105943583, LOC107984862, LOC108251797, LOC108254672, LOC108281164, LOC109029536, LOC110120569, LOC110120570, LOC110120571, LOC110120572, LOC110120573, LOC110120824, LOC110121410, LOC110121411, LOC110121436, LOC110121450, LOC110121468, LOC111365156, LOC111365213, LOC111413011, LOC111413029, LOC111429607, LOC111556152, LOC112486205, LOC112486206, LOC112486207, LOC112486208, LOC112486209, LOC112486210, LOC112486211, LOC112486212, LOC112486213, LOC112486214, LOC112486215, LOC112486216, LOC112486217, LOC112486218, LOC112486219, LOC112486220, LOC112486221, LOC112486222, LOC112486223, LOC112486227, LOC113939956, LOC116276453, LOC121587554, LOC121587555, LOC121587556, LOC121587557, LOC121587558, LOC121587559, LOC121587560, LOC121587561, LOC121587562, LOC121587563, LOC121587564, LOC121587565, LOC121587566, LOC121587567, LOC121847990, LOC121847991, LOC121847992, LOC121847993, LOC121847994, LOC121847995, LOC121847996, LOC121847997, LOC121847998, LOC121847999, LOC121848000, LOC121848001, LOC125177346, LOC125177347, LOC125177348, LOC125177349, LOC125177350, LOC125177351, LOC125177352, LOC125177353, LOC125177354, LOC125177355, LOC125177356, LOC125177357, LOC125177358, LOC125177359, LOC125177360, LOC125177361, LOC125177362, LOC125177363, LOC125177365, LOC125177366, LOC125177367, LOC125177368, LOC125177380, LOC125177381, LOC125177382, LOC125177383, LOC125177384, LOC125177385, LOC125177386, LOC125177387, LOC125177388, LOC125177389, LOC125177390, LOC125177391, LOC125177392, LOC125177393, LOC125177394, LOC125177395, LOC125177396, LOC125177397, LOC126862387, LOC126862388, LOC126862389, LOC126862390, LOC126862391, LOC126862392, LOC126862393, LOC126862394, LOC126862395, LOC126862396, LOC126862397, LOC126862398, LOC126862399, LOC126862400, LOC126862401, LOC126862402, LOC126862403, LOC126862404, LOC126862405, LOC126862406, LOC126862407, LOC126862408, LOC126862409, LOC126862410, LOC126862411, LOC126862412, LOC126862413, LOC126862414, LOC126862415, LOC126862416, LOC126862417, LOC126862418, LOC126862419, LOC126862420, LOC126862421, LOC126862422, LOC126862423, LOC126862424, LOC126862425, LOC126862426, LOC126862427, LOC126862428, LOC126862429, LOC126862430, LOC126862431, LOC126862432, LOC126862433, LOC126862434, LOC126862435, LOC126862436, LOC126862437, LOC126862438, LOC126862439, LOC126862440, LOC126862441, LOC126862442, LOC126862443, LOC126862444, LOC126862445, LOC126862446, LOC126862447, LOC126862448, LOC126862449, LOC126862450, LOC126862451, LOC126862453, LOC128462377, LOC128772415, LOC128772416, LOC128772417, LOC128772418, LOC128772419, LOC128772420, LOC128772421, LOC128779116, LOC128849171, LOC128849173, LOC339059, LOC400553, LOC654780, LOHAN2, MAF, MAFTRR, MAP1LC3B, MARVELD3, MBTPS1, MC1R, MEAK7, MIR11401, MIR12128, MIR1910, MIR3182, MIR4719, MIR4720, MIR4722, MIR5093, MIR5189, MIR6504, MIR6774, MIR6775, MIR7854, MIR8058, MLKL, MLYCD, MON1B, MPHOSPH6, MTHFSD, MVD, NECAB2, NPIPB15, NUDT7, OSGIN1, PABPN1L, PHLPP2, PIEZO1, PKD1L2, PKD1L3, PLCG2, PMFBP1, PRDM7, PSMD7, PSMD7-DT, RFWD3, RNF166, RPL13, SDR42E1, SLC22A31, SLC38A8, SLC7A5, SNAI3, SNAI3-AS1, SNORA119, SNORA70D, SNORD68, SNORD71, SPATA2L, SPATA33, SPG7, SPIRE2, SYCE1L, TAF1C, TAT, TAT-AS1, TCF25, TERF2IP, TLE7, TMEM170A, TMEM231, TRAPPC2L, TRG-GCC2-4, TRG-GCC2-5, TRG-GCC3-1, TRG-GCC5-1, TRK-TTT1-1, TRM-CAT2-1, TRM-CAT6-1, TUBB3, TXNL4B, USP10, VAC14, VAC14-AS1, VAT1L, VPS9D1, VPS9D1-AS1, WDR59, WFDC1, WWOX, WWOX-AS1, ZC3H18, ZC3H18-AS1, ZCCHC14, ZCCHC14-DT, ZDHHC7, ZFHX3, ZFHX3-AS1, ZFP1, ZFPM1, ZFPM1-AS1, ZNF19, ZNF23, ZNF276, ZNF469, ZNF778, ZNF821, ZNRF1 | | See cases | Pathogenic (May 12, 2011) | no assertion criteria provided |
| - GRCh37:
- Chr16:75411879-90148400
- GRCh38:
- Chr16:75377981-90081992
| ACSF3, ADAD2, ADAMTS18, ADAT1, ANKRD11, APRT, ARLNC1, ATMIN, ATP2C2, ATP2C2-AS1, BANP, BCO1, C16orf46, C16orf74, C16orf95, C16orf95-DT, CA5A, CBFA2T3, CDH13, CDH13-AS1, CDH13-AS2, CDH15, CDK10, CDT1, CDYL2, CEDORA, CENPBD1, CENPN, CFDP1, CHMP1A, CHST5, CHST6, CIBAR2, CLEC3A, CMC2, CMIP, CNTNAP4, COTL1, COX4I1, CPHXL, CPHXL2, CPNE7, CRISPLD2, CTU2, CYBA, DBNDD1, DEF8, DNAAF1, DPEP1, DUXB, DYNLRB2, DYNLRB2-AS1, EMC8, FANCA, FBXO31, FENDRR, FLJ30679, FOXC2, FOXC2-AS1, FOXF1, FOXL1, GABARAPL2, GALNS, GAN, GAS8, GAS8-AS1, GCSH, GINS2, GSE1, HSBP1, HSD17B2, HSD17B2-AS1, HSDL1, IL17C, IRF8, JPH3, KARS1, KCNG4, KIAA0513, KLHDC4, KLHL36, LINC00304, LINC00311, LINC00917, LINC01081, LINC01082, LINC01227, LINC01228, LINC01229, LINC02125, LINC02131, LINC02135, LINC02138, LINC02139, LINC02166, LINC02176, LINC02181, LINC02182, LINC02188, LINC02189, LOC100129215, LOC100129617, LOC100129697, LOC100287036, LOC100289580, LOC101927793, LOC101927817, LOC101927863, LOC101928230, LOC101928392, LOC101928417, LOC101928446, LOC101928557, LOC101928682, LOC101928708, LOC102724467, LOC105371347, LOC105371401, LOC105371414, LOC105943583, LOC107984862, LOC108281164, LOC109029536, LOC110120569, LOC110120570, LOC110121411, LOC110121450, LOC110121468, LOC111365156, LOC111365213, LOC111413011, LOC111429607, LOC111556152, LOC112486208, LOC112486209, LOC112486210, LOC112486211, LOC112486212, LOC112486213, LOC112486214, LOC112486215, LOC112486216, LOC112486217, LOC112486218, LOC112486219, LOC112486220, LOC112486221, LOC112486222, LOC112486223, LOC112486227, LOC113939956, LOC116276453, LOC121587562, LOC121587563, LOC121587564, LOC121587565, LOC121587566, LOC121587567, LOC121847993, LOC121847994, LOC121847995, LOC121847996, LOC121847997, LOC121847998, LOC121847999, LOC121848000, LOC121848001, LOC125177352, LOC125177353, LOC125177354, LOC125177355, LOC125177356, LOC125177357, LOC125177358, LOC125177359, LOC125177360, LOC125177361, LOC125177362, LOC125177363, LOC125177365, LOC125177366, LOC125177367, LOC125177368, LOC125177380, LOC125177381, LOC125177382, LOC125177383, LOC125177384, LOC125177385, LOC125177386, LOC125177387, LOC125177388, LOC125177389, LOC125177390, LOC125177391, LOC125177392, LOC125177393, LOC125177394, LOC125177395, LOC125177396, LOC125177397, LOC126862402, LOC126862403, LOC126862404, LOC126862405, LOC126862406, LOC126862407, LOC126862408, LOC126862409, LOC126862410, LOC126862411, LOC126862412, LOC126862413, LOC126862414, LOC126862415, LOC126862416, LOC126862417, LOC126862418, LOC126862419, LOC126862420, LOC126862421, LOC126862422, LOC126862423, LOC126862424, LOC126862425, LOC126862426, LOC126862427, LOC126862428, LOC126862429, LOC126862430, LOC126862431, LOC126862432, LOC126862433, LOC126862434, LOC126862435, LOC126862436, LOC126862437, LOC126862438, LOC126862439, LOC126862440, LOC126862441, LOC126862442, LOC126862443, LOC126862444, LOC126862445, LOC126862446, LOC126862447, LOC126862448, LOC126862449, LOC126862450, LOC126862451, LOC126862453, LOC128462377, LOC128772415, LOC128772416, LOC128772417, LOC128772418, LOC128772419, LOC128772420, LOC128772421, LOC128779116, LOC128849171, LOC128849173, LOC339059, LOC400553, LOC654780, MAF, MAFTRR, MAP1LC3B, MBTPS1, MC1R, MEAK7, MIR11401, MIR12128, MIR1910, MIR3182, MIR4719, MIR4720, MIR4722, MIR5093, MIR5189, MIR6504, MIR6774, MIR6775, MIR7854, MIR8058, MLYCD, MON1B, MPHOSPH6, MTHFSD, MVD, NECAB2, NUDT7, OSGIN1, PABPN1L, PIEZO1, PKD1L2, PLCG2, PRDM7, RNF166, RPL13, SDR42E1, SLC22A31, SLC38A8, SLC7A5, SNAI3, SNAI3-AS1, SNORA119, SNORD68, SPATA2L, SPATA33, SPG7, SPIRE2, SYCE1L, TAF1C, TCF25, TERF2IP, TMEM170A, TMEM231, TRAPPC2L, TRM-CAT6-1, TUBB3, USP10, VAT1L, VPS9D1, VPS9D1-AS1, WFDC1, WWOX, WWOX-AS1, ZC3H18, ZC3H18-AS1, ZCCHC14, ZCCHC14-DT, ZDHHC7, ZFPM1, ZFPM1-AS1, ZNF276, ZNF469, ZNF778 | | See cases | Pathogenic (Sep 21, 2012) | no assertion criteria provided |
| - GRCh37:
- Chr16:76370100-90155062
- GRCh38:
- Chr16:76336203-90088654
| ACSF3, ADAD2, ADAMTS18, ANKRD11, APRT, ARLNC1, ATMIN, ATP2C2, ATP2C2-AS1, BANP, BCO1, C16orf46, C16orf74, C16orf95, C16orf95-DT, CA5A, CBFA2T3, CDH13, CDH13-AS1, CDH13-AS2, CENPN, CDH15, CDK10, CDT1, CDYL2, CEDORA, CENPBD1, CHMP1A, CIBAR2, CLEC3A, CMC2, CMIP, CNTNAP4, COTL1, COX4I1, CPNE7, CRISPLD2, CTU2, CYBA, DBNDD1, DEF8, DNAAF1, DPEP1, DYNLRB2, DYNLRB2-AS1, EMC8, FANCA, FBXO31, FENDRR, FLJ30679, FOXC2, FOXC2-AS1, FOXF1, FOXL1, GALNS, GAN, GAS8, GAS8-AS1, GCSH, GINS2, GSE1, HSBP1, HSD17B2, HSD17B2-AS1, HSDL1, IL17C, IRF8, JPH3, KCNG4, KIAA0513, KLHDC4, KLHL36, LINC00304, LINC00311, LINC00917, LINC01081, LINC01082, LINC01227, LINC01228, LINC01229, LINC02125, LINC02131, LINC02135, LINC02138, LINC02139, LINC02166, LINC02176, LINC02181, LINC02182, LINC02188, LINC02189, LOC100129215, LOC100129617, LOC100129697, LOC100287036, LOC100289580, LOC101927793, LOC101927817, LOC101927863, LOC101928230, LOC101928392, LOC101928417, LOC101928446, LOC101928557, LOC101928682, LOC101928708, LOC102724467, LOC105371401, LOC105371414, LOC105943583, LOC107984862, LOC108281164, LOC109029536, LOC110120569, LOC110120570, LOC110121411, LOC110121450, LOC110121468, LOC111365156, LOC111365213, LOC111413011, LOC111429607, LOC111556152, LOC112486208, LOC112486209, LOC112486210, LOC112486211, LOC112486212, LOC112486213, LOC112486214, LOC112486215, LOC112486216, LOC112486217, LOC112486218, LOC112486219, LOC112486220, LOC112486221, LOC112486222, LOC112486223, LOC112486227, LOC113939956, LOC116276453, LOC121587562, LOC121587563, LOC121587564, LOC121587565, LOC121587566, LOC121587567, LOC121847993, LOC121847994, LOC121847995, LOC121847996, LOC121847997, LOC121847998, LOC121847999, LOC121848000, LOC121848001, LOC125177355, LOC125177356, LOC125177357, LOC125177358, LOC125177359, LOC125177360, LOC125177361, LOC125177362, LOC125177363, LOC125177365, LOC125177366, LOC125177367, LOC125177368, LOC125177380, LOC125177381, LOC125177382, LOC125177383, LOC125177384, LOC125177385, LOC125177386, LOC125177387, LOC125177388, LOC125177389, LOC125177390, LOC125177391, LOC125177392, LOC125177393, LOC125177394, LOC125177395, LOC125177396, LOC125177397, LOC126862404, LOC126862405, LOC126862406, LOC126862407, LOC126862408, LOC126862409, LOC126862410, LOC126862411, LOC126862412, LOC126862413, LOC126862414, LOC126862415, LOC126862416, LOC126862417, LOC126862418, LOC126862419, LOC126862420, LOC126862421, LOC126862422, LOC126862423, LOC126862424, LOC126862425, LOC126862426, LOC126862427, LOC126862428, LOC126862429, LOC126862430, LOC126862431, LOC126862432, LOC126862433, LOC126862434, LOC126862435, LOC126862436, LOC126862437, LOC126862438, LOC126862439, LOC126862440, LOC126862441, LOC126862442, LOC126862443, LOC126862444, LOC126862445, LOC126862446, LOC126862447, LOC126862448, LOC126862449, LOC126862450, LOC126862451, LOC126862453, LOC128462377, LOC128772415, LOC128772416, LOC128772417, LOC128772418, LOC128772419, LOC128772420, LOC128772421, LOC128779116, LOC128849171, LOC128849173, LOC339059, LOC400553, LOC654780, MAF, MAFTRR, MAP1LC3B, MBTPS1, MC1R, MEAK7, MIR11401, MIR12128, MIR1910, MIR3182, MIR4719, MIR4720, MIR4722, MIR5093, MIR5189, MIR6504, MIR6774, MIR6775, MIR7854, MIR8058, MLYCD, MON1B, MPHOSPH6, MTHFSD, MVD, NECAB2, NUDT7, OSGIN1, PABPN1L, PIEZO1, PKD1L2, PLCG2, PRDM7, RNF166, RPL13, SDR42E1, SLC22A31, SLC38A8, SLC7A5, SNAI3, SNAI3-AS1, SNORA119, SNORD68, SPATA2L, SPATA33, SPG7, SPIRE2, SYCE1L, TAF1C, TCF25, TRAPPC2L, TRM-CAT6-1, TUBB3, USP10, VAT1L, VPS9D1, VPS9D1-AS1, WFDC1, WWOX, WWOX-AS1, ZC3H18, ZC3H18-AS1, ZCCHC14, ZCCHC14-DT, ZDHHC7, ZFPM1, ZFPM1-AS1, ZNF276, ZNF469, ZNF778 | | See cases | Pathogenic (Dec 16, 2014) | no assertion criteria provided |
| - GRCh37:
- Chr16:76907466-90148393
- GRCh38:
- Chr16:76873569-90081985
| ACSF3, ADAD2, ADAMTS18, ANKRD11, APRT, ARLNC1, ATMIN, ATP2C2, ATP2C2-AS1, BANP, BCO1, C16orf46, C16orf74, C16orf95, C16orf95-DT, CA5A, CBFA2T3, CDH13, CDH13-AS1, CDH13-AS2, CDH15, CDK10, CDT1, CDYL2, CEDORA, CENPBD1, CENPN, CHMP1A, CIBAR2, CLEC3A, CMC2, CMIP, COTL1, COX4I1, CPNE7, CRISPLD2, CTU2, CYBA, DBNDD1, DEF8, DNAAF1, DPEP1, DYNLRB2, DYNLRB2-AS1, EMC8, FANCA, FBXO31, FENDRR, FLJ30679, FOXC2, FOXC2-AS1, FOXF1, FOXL1, GALNS, GAN, GAS8, GAS8-AS1, GCSH, GINS2, GSE1, HSBP1, HSD17B2, HSD17B2-AS1, HSDL1, IL17C, IRF8, JPH3, KCNG4, KIAA0513, KLHDC4, KLHL36, LINC00304, LINC00311, LINC00917, LINC01081, LINC01082, LINC01227, LINC01228, LINC01229, LINC02131, LINC02135, LINC02138, LINC02139, LINC02166, LINC02176, LINC02181, LINC02182, LINC02188, LINC02189, LOC100129215, LOC100129617, LOC100129697, LOC100287036, LOC100289580, LOC101927793, LOC101927817, LOC101927863, LOC101928230, LOC101928392, LOC101928417, LOC101928446, LOC101928557, LOC101928682, LOC101928708, LOC102724467, LOC105371401, LOC105371414, LOC105943583, LOC107984862, LOC108281164, LOC109029536, LOC110120569, LOC110120570, LOC110121411, LOC110121450, LOC110121468, LOC111365156, LOC111365213, LOC111413011, LOC111429607, LOC111556152, LOC112486208, LOC112486209, LOC112486210, LOC112486211, LOC112486212, LOC112486213, LOC112486214, LOC112486215, LOC112486216, LOC112486217, LOC112486218, LOC112486219, LOC112486220, LOC112486221, LOC112486222, LOC112486223, LOC112486227, LOC113939956, LOC116276453, LOC121587562, LOC121587563, LOC121587564, LOC121587565, LOC121587566, LOC121587567, LOC121847993, LOC121847994, LOC121847995, LOC121847996, LOC121847997, LOC121847998, LOC121847999, LOC121848000, LOC121848001, LOC125177355, LOC125177356, LOC125177357, LOC125177358, LOC125177359, LOC125177360, LOC125177361, LOC125177362, LOC125177363, LOC125177365, LOC125177366, LOC125177367, LOC125177368, LOC125177380, LOC125177381, LOC125177382, LOC125177383, LOC125177384, LOC125177385, LOC125177386, LOC125177387, LOC125177388, LOC125177389, LOC125177390, LOC125177391, LOC125177392, LOC125177393, LOC125177394, LOC125177395, LOC125177396, LOC125177397, LOC126862406, LOC126862407, LOC126862408, LOC126862409, LOC126862410, LOC126862411, LOC126862412, LOC126862413, LOC126862414, LOC126862415, LOC126862416, LOC126862417, LOC126862418, LOC126862419, LOC126862420, LOC126862421, LOC126862422, LOC126862423, LOC126862424, LOC126862425, LOC126862426, LOC126862427, LOC126862428, LOC126862429, LOC126862430, LOC126862431, LOC126862432, LOC126862433, LOC126862434, LOC126862435, LOC126862436, LOC126862437, LOC126862438, LOC126862439, LOC126862440, LOC126862441, LOC126862442, LOC126862443, LOC126862444, LOC126862445, LOC126862446, LOC126862447, LOC126862448, LOC126862449, LOC126862450, LOC126862451, LOC126862453, LOC128462377, LOC128772415, LOC128772416, LOC128772417, LOC128772418, LOC128772419, LOC128772420, LOC128772421, LOC128779116, LOC128849171, LOC128849173, LOC339059, LOC400553, LOC654780, MAF, MAFTRR, MAP1LC3B, MBTPS1, MC1R, MEAK7, MIR11401, MIR12128, MIR1910, MIR3182, MIR4720, MIR4722, MIR5093, MIR5189, MIR6504, MIR6774, MIR6775, MIR7854, MIR8058, MLYCD, MON1B, MPHOSPH6, MTHFSD, MVD, NECAB2, NUDT7, OSGIN1, PABPN1L, PIEZO1, PKD1L2, PLCG2, PRDM7, RNF166, RPL13, SDR42E1, SLC22A31, SLC38A8, SLC7A5, SNAI3, SNAI3-AS1, SNORA119, SNORD68, SPATA2L, SPATA33, SPG7, SPIRE2, SYCE1L, TAF1C, TCF25, TRAPPC2L, TRM-CAT6-1, TUBB3, USP10, VAT1L, VPS9D1, VPS9D1-AS1, WFDC1, WWOX, WWOX-AS1, ZC3H18, ZC3H18-AS1, ZCCHC14, ZCCHC14-DT, ZDHHC7, ZFPM1, ZFPM1-AS1, ZNF276, ZNF469, ZNF778 | | See cases | Pathogenic (Aug 12, 2011) | criteria provided, single submitter |
| - GRCh37:
- Chr16:78850188-90148393
- GRCh38:
- Chr16:78816291-90081985
| ACSF3, ADAD2, ANKRD11, APRT, ARLNC1, ATMIN, ATP2C2, ATP2C2-AS1, BANP, BCO1, C16orf46, C16orf74, C16orf95, C16orf95-DT, CA5A, CBFA2T3, CDH13, CDH13-AS1, CDH13-AS2, CDH15, CDK10, CDT1, CDYL2, CEDORA, CENPBD1, CENPN, CHMP1A, CIBAR2, CMC2, CMIP, COTL1, COX4I1, CPNE7, CRISPLD2, CTU2, CYBA, DBNDD1, DEF8, DNAAF1, DPEP1, DYNLRB2, DYNLRB2-AS1, EMC8, FANCA, FBXO31, FENDRR, FLJ30679, FOXC2, FOXC2-AS1, FOXF1, FOXL1, GALNS, GAN, GAS8, GAS8-AS1, GCSH, GINS2, GSE1, HSBP1, HSD17B2, HSD17B2-AS1, HSDL1, IL17C, IRF8, JPH3, KCNG4, KIAA0513, KLHDC4, KLHL36, LINC00304, LINC00311, LINC00917, LINC01081, LINC01082, LINC01227, LINC01228, LINC01229, LINC02135, LINC02138, LINC02139, LINC02166, LINC02176, LINC02181, LINC02182, LINC02188, LINC02189, LOC100129215, LOC100129617, LOC100129697, LOC100287036, LOC100289580, LOC101927793, LOC101927817, LOC101927863, LOC101928230, LOC101928392, LOC101928417, LOC101928446, LOC101928557, LOC101928682, LOC101928708, LOC102724467, LOC105371401, LOC105371414, LOC105943583, LOC107984862, LOC108281164, LOC109029536, LOC110120569, LOC110121411, LOC110121450, LOC110121468, LOC111365156, LOC111365213, LOC111413011, LOC111429607, LOC111556152, LOC112486210, LOC112486211, LOC112486212, LOC112486213, LOC112486214, LOC112486215, LOC112486216, LOC112486217, LOC112486218, LOC112486219, LOC112486220, LOC112486221, LOC112486222, LOC112486223, LOC112486227, LOC113939956, LOC116276453, LOC121587563, LOC121587564, LOC121587565, LOC121587566, LOC121587567, LOC121847993, LOC121847994, LOC121847995, LOC121847996, LOC121847997, LOC121847998, LOC121847999, LOC121848000, LOC121848001, LOC125177356, LOC125177357, LOC125177358, LOC125177359, LOC125177360, LOC125177361, LOC125177362, LOC125177363, LOC125177365, LOC125177366, LOC125177367, LOC125177368, LOC125177380, LOC125177381, LOC125177382, LOC125177383, LOC125177384, LOC125177385, LOC125177386, LOC125177387, LOC125177388, LOC125177389, LOC125177390, LOC125177391, LOC125177392, LOC125177393, LOC125177394, LOC125177395, LOC125177396, LOC125177397, LOC126862412, LOC126862413, LOC126862414, LOC126862415, LOC126862416, LOC126862417, LOC126862418, LOC126862419, LOC126862420, LOC126862421, LOC126862422, LOC126862423, LOC126862424, LOC126862425, LOC126862426, LOC126862427, LOC126862428, LOC126862429, LOC126862430, LOC126862431, LOC126862432, LOC126862433, LOC126862434, LOC126862435, LOC126862436, LOC126862437, LOC126862438, LOC126862439, LOC126862440, LOC126862441, LOC126862442, LOC126862443, LOC126862444, LOC126862445, LOC126862446, LOC126862447, LOC126862448, LOC126862449, LOC126862450, LOC126862451, LOC126862453, LOC128462377, LOC128772415, LOC128772416, LOC128772417, LOC128772418, LOC128772419, LOC128772420, LOC128772421, LOC128779116, LOC128849171, LOC128849173, LOC339059, LOC400553, LOC654780, MAF, MAFTRR, MAP1LC3B, MBTPS1, MC1R, MEAK7, MIR11401, MIR12128, MIR1910, MIR3182, MIR4720, MIR4722, MIR5093, MIR5189, MIR6504, MIR6774, MIR6775, MIR7854, MIR8058, MLYCD, MPHOSPH6, MTHFSD, MVD, NECAB2, OSGIN1, PABPN1L, PIEZO1, PKD1L2, PLCG2, PRDM7, RNF166, RPL13, SDR42E1, SLC22A31, SLC38A8, SLC7A5, SNAI3, SNAI3-AS1, SNORA119, SNORD68, SPATA2L, SPATA33, SPG7, SPIRE2, TAF1C, TCF25, TRAPPC2L, TRM-CAT6-1, TUBB3, USP10, VPS9D1, VPS9D1-AS1, WFDC1, WWOX, ZC3H18, ZC3H18-AS1, ZCCHC14, ZCCHC14-DT, ZDHHC7, ZFPM1, ZFPM1-AS1, ZNF276, ZNF469, ZNF778 | | See cases | Pathogenic (Aug 12, 2011) | criteria provided, single submitter |
| - GRCh37:
- Chr16:80101212-90124279
- GRCh38:
- Chr16:80067315-90057871
| ACSF3, ADAD2, ANKRD11, APRT, ARLNC1, ATMIN, ATP2C2, ATP2C2-AS1, BANP, BCO1, C16orf46, C16orf74, C16orf95, C16orf95-DT, CA5A, CBFA2T3, CDH13, CDH13-AS1, CDH13-AS2, CENPN, CDH15, CDK10, CDT1, CDYL2, CEDORA, CENPBD1, CHMP1A, CIBAR2, CMC2, CMIP, COTL1, COX4I1, CPNE7, CRISPLD2, CTU2, CYBA, DBNDD1, DEF8, DNAAF1, DPEP1, DYNLRB2, DYNLRB2-AS1, EMC8, FANCA, FBXO31, FENDRR, FLJ30679, FOXC2, FOXC2-AS1, FOXF1, FOXL1, GALNS, GAN, GAS8, GAS8-AS1, GCSH, GINS2, GSE1, HSBP1, HSD17B2, HSD17B2-AS1, HSDL1, IL17C, IRF8, JPH3, KCNG4, KIAA0513, KLHDC4, KLHL36, LINC00304, LINC00311, LINC00917, LINC01081, LINC01082, LINC01227, LINC02135, LINC02138, LINC02139, LINC02166, LINC02176, LINC02181, LINC02182, LINC02188, LINC02189, LOC100129215, LOC100129617, LOC100129697, LOC100287036, LOC100289580, LOC101927793, LOC101927817, LOC101927863, LOC101928392, LOC101928417, LOC101928446, LOC101928557, LOC101928682, LOC101928708, LOC102724467, LOC105371401, LOC105371414, LOC105943583, LOC107984862, LOC108281164, LOC109029536, LOC110120569, LOC110121411, LOC110121450, LOC110121468, LOC111365213, LOC111413011, LOC111556152, LOC112486210, LOC112486211, LOC112486212, LOC112486213, LOC112486214, LOC112486215, LOC112486216, LOC112486217, LOC112486218, LOC112486219, LOC112486220, LOC112486221, LOC112486222, LOC112486223, LOC112486227, LOC113939956, LOC116276453, LOC121587564, LOC121587565, LOC121587566, LOC121587567, LOC121847993, LOC121847994, LOC121847995, LOC121847996, LOC121847997, LOC121847998, LOC121847999, LOC121848000, LOC121848001, LOC125177358, LOC125177359, LOC125177360, LOC125177361, LOC125177362, LOC125177363, LOC125177365, LOC125177366, LOC125177367, LOC125177368, LOC125177380, LOC125177381, LOC125177382, LOC125177383, LOC125177384, LOC125177385, LOC125177386, LOC125177387, LOC125177388, LOC125177389, LOC125177390, LOC125177391, LOC125177392, LOC125177393, LOC125177394, LOC125177395, LOC125177396, LOC125177397, LOC126862415, LOC126862416, LOC126862417, LOC126862418, LOC126862419, LOC126862420, LOC126862421, LOC126862422, LOC126862423, LOC126862424, LOC126862425, LOC126862426, LOC126862427, LOC126862428, LOC126862429, LOC126862430, LOC126862431, LOC126862432, LOC126862433, LOC126862434, LOC126862435, LOC126862436, LOC126862437, LOC126862438, LOC126862439, LOC126862440, LOC126862441, LOC126862442, LOC126862443, LOC126862444, LOC126862445, LOC126862446, LOC126862447, LOC126862448, LOC126862449, LOC126862450, LOC126862451, LOC126862453, LOC128462377, LOC128772415, LOC128772416, LOC128772417, LOC128772418, LOC128772419, LOC128772420, LOC128772421, LOC128779116, LOC128849171, LOC128849173, LOC339059, LOC400553, LOC654780, MAP1LC3B, MBTPS1, MC1R, MEAK7, MIR11401, MIR12128, MIR1910, MIR3182, MIR4720, MIR4722, MIR5093, MIR5189, MIR6504, MIR6774, MIR6775, MIR7854, MIR8058, MLYCD, MPHOSPH6, MTHFSD, MVD, NECAB2, OSGIN1, PABPN1L, PIEZO1, PKD1L2, PLCG2, PRDM7, RNF166, RPL13, SDR42E1, SLC22A31, SLC38A8, SLC7A5, SNAI3, SNAI3-AS1, SNORA119, SNORD68, SPATA2L, SPATA33, SPG7, SPIRE2, TAF1C, TCF25, TRAPPC2L, TRM-CAT6-1, TUBB3, USP10, VPS9D1, VPS9D1-AS1, WFDC1, ZC3H18, ZC3H18-AS1, ZCCHC14, ZCCHC14-DT, ZDHHC7, ZFPM1, ZFPM1-AS1, ZNF276, ZNF469, ZNF778 | | See cases | Pathogenic (Oct 14, 2010) | no assertion criteria provided |
| - GRCh37:
- Chr16:80751188-90163070
- GRCh38:
- Chr16:80717291-90096662
| ACSF3, ADAD2, ANKRD11, APRT, ARLNC1, ATMIN, ATP2C2, ATP2C2-AS1, BANP, BCO1, C16orf46, C16orf74, C16orf95, C16orf95-DT, CA5A, CBFA2T3, CDH13, CDH13-AS1, CDH13-AS2, CDH15, CDK10, CDT1, CDYL2, CEDORA, CENPBD1, CENPN, CHMP1A, CIBAR2, CMC2, CMIP, COTL1, COX4I1, CPNE7, CRISPLD2, CTU2, CYBA, DBNDD1, DEF8, DNAAF1, DPEP1, EMC8, FANCA, FBXO31, FENDRR, FLJ30679, FOXC2, FOXC2-AS1, FOXF1, FOXL1, GALNS, GAN, GAS8, GAS8-AS1, GCSH, GINS2, GSE1, HSBP1, HSD17B2, HSD17B2-AS1, HSDL1, IL17C, IRF8, JPH3, KCNG4, KIAA0513, KLHDC4, KLHL36, LINC00304, LINC00311, LINC00917, LINC01081, LINC01082, LINC02135, LINC02138, LINC02139, LINC02166, LINC02176, LINC02181, LINC02182, LINC02188, LINC02189, LOC100129215, LOC100129617, LOC100129697, LOC100287036, LOC100289580, LOC101927793, LOC101927817, LOC101927863, LOC101928392, LOC101928417, LOC101928446, LOC101928557, LOC101928682, LOC101928708, LOC102724467, LOC105371401, LOC105371414, LOC105943583, LOC107984862, LOC108281164, LOC109029536, LOC110121411, LOC110121450, LOC110121468, LOC111413011, LOC111556152, LOC112486210, LOC112486211, LOC112486212, LOC112486213, LOC112486214, LOC112486215, LOC112486216, LOC112486217, LOC112486218, LOC112486219, LOC112486220, LOC112486221, LOC112486222, LOC112486223, LOC112486227, LOC113939956, LOC116276453, LOC121587566, LOC121587567, LOC121847993, LOC121847994, LOC121847995, LOC121847996, LOC121847997, LOC121847998, LOC121847999, LOC121848000, LOC121848001, LOC125177358, LOC125177359, LOC125177360, LOC125177361, LOC125177362, LOC125177363, LOC125177365, LOC125177366, LOC125177367, LOC125177368, LOC125177380, LOC125177381, LOC125177382, LOC125177383, LOC125177384, LOC125177385, LOC125177386, LOC125177387, LOC125177388, LOC125177389, LOC125177390, LOC125177391, LOC125177392, LOC125177393, LOC125177394, LOC125177395, LOC125177396, LOC125177397, LOC126862416, LOC126862417, LOC126862418, LOC126862419, LOC126862420, LOC126862421, LOC126862422, LOC126862423, LOC126862424, LOC126862425, LOC126862426, LOC126862427, LOC126862428, LOC126862429, LOC126862430, LOC126862431, LOC126862432, LOC126862433, LOC126862434, LOC126862435, LOC126862436, LOC126862437, LOC126862438, LOC126862439, LOC126862440, LOC126862441, LOC126862442, LOC126862443, LOC126862444, LOC126862445, LOC126862446, LOC126862447, LOC126862448, LOC126862449, LOC126862450, LOC126862451, LOC126862453, LOC128462377, LOC128772415, LOC128772416, LOC128772417, LOC128772418, LOC128772419, LOC128772420, LOC128772421, LOC128779116, LOC128849171, LOC128849173, LOC339059, LOC400553, LOC654780, MAP1LC3B, MBTPS1, MC1R, MEAK7, MIR11401, MIR12128, MIR1910, MIR3182, MIR4720, MIR4722, MIR5093, MIR5189, MIR6504, MIR6774, MIR6775, MIR7854, MIR8058, MLYCD, MPHOSPH6, MTHFSD, MVD, NECAB2, OSGIN1, PABPN1L, PIEZO1, PKD1L2, PLCG2, PRDM7, RNF166, RPL13, SDR42E1, SLC22A31, SLC38A8, SLC7A5, SNAI3, SNAI3-AS1, SNORA119, SNORD68, SPATA2L, SPATA33, SPG7, SPIRE2, TAF1C, TCF25, TRAPPC2L, TRM-CAT6-1, TUBB3, USP10, VPS9D1, VPS9D1-AS1, WFDC1, ZC3H18, ZC3H18-AS1, ZCCHC14, ZCCHC14-DT, ZDHHC7, ZFPM1, ZFPM1-AS1, ZNF276, ZNF469, ZNF778 | | See cases | Pathogenic (Apr 30, 2011) | no assertion criteria provided |
| - GRCh37:
- Chr16:80980556-90148393
- GRCh38:
- Chr16:80946659-90081985
| ACSF3, ADAD2, ANKRD11, APRT, ATMIN, ATP2C2, ATP2C2-AS1, BANP, BCO1, C16orf46, C16orf74, C16orf95, C16orf95-DT, CA5A, CBFA2T3, CDH13, CDH13-AS1, CDH13-AS2, CHMP1A, CDH15, CDK10, CDT1, CEDORA, CENPBD1, CENPN, CIBAR2, CMC2, CMIP, COTL1, COX4I1, CPNE7, CRISPLD2, CTU2, CYBA, DBNDD1, DEF8, DNAAF1, DPEP1, EMC8, FANCA, FBXO31, FENDRR, FLJ30679, FOXC2, FOXC2-AS1, FOXF1, FOXL1, GALNS, GAN, GAS8, GAS8-AS1, GCSH, GINS2, GSE1, HSBP1, HSD17B2, HSD17B2-AS1, HSDL1, IL17C, IRF8, JPH3, KCNG4, KIAA0513, KLHDC4, KLHL36, LINC00304, LINC00311, LINC00917, LINC01081, LINC01082, LINC02135, LINC02138, LINC02139, LINC02166, LINC02176, LINC02181, LINC02182, LINC02188, LINC02189, LOC100129215, LOC100129617, LOC100129697, LOC100287036, LOC100289580, LOC101927793, LOC101927817, LOC101927863, LOC101928392, LOC101928417, LOC101928446, LOC101928557, LOC101928682, LOC101928708, LOC102724467, LOC105371401, LOC105371414, LOC105943583, LOC107984862, LOC108281164, LOC109029536, LOC110121411, LOC110121450, LOC110121468, LOC111413011, LOC111556152, LOC112486210, LOC112486211, LOC112486212, LOC112486213, LOC112486214, LOC112486215, LOC112486216, LOC112486217, LOC112486218, LOC112486219, LOC112486220, LOC112486221, LOC112486222, LOC112486223, LOC112486227, LOC113939956, LOC116276453, LOC121587566, LOC121587567, LOC121847993, LOC121847994, LOC121847995, LOC121847996, LOC121847997, LOC121847998, LOC121847999, LOC121848000, LOC121848001, LOC125177358, LOC125177359, LOC125177360, LOC125177361, LOC125177362, LOC125177363, LOC125177365, LOC125177366, LOC125177367, LOC125177368, LOC125177380, LOC125177381, LOC125177382, LOC125177383, LOC125177384, LOC125177385, LOC125177386, LOC125177387, LOC125177388, LOC125177389, LOC125177390, LOC125177391, LOC125177392, LOC125177393, LOC125177394, LOC125177395, LOC125177396, LOC125177397, LOC126862416, LOC126862417, LOC126862418, LOC126862419, LOC126862420, LOC126862421, LOC126862422, LOC126862423, LOC126862424, LOC126862425, LOC126862426, LOC126862427, LOC126862428, LOC126862429, LOC126862430, LOC126862431, LOC126862432, LOC126862433, LOC126862434, LOC126862435, LOC126862436, LOC126862437, LOC126862438, LOC126862439, LOC126862440, LOC126862441, LOC126862442, LOC126862443, LOC126862444, LOC126862445, LOC126862446, LOC126862447, LOC126862448, LOC126862449, LOC126862450, LOC126862451, LOC126862453, LOC128462377, LOC128772415, LOC128772416, LOC128772417, LOC128772418, LOC128772419, LOC128772420, LOC128772421, LOC128779116, LOC128849171, LOC128849173, LOC339059, LOC400553, LOC654780, MAP1LC3B, MBTPS1, MC1R, MEAK7, MIR11401, MIR12128, MIR1910, MIR3182, MIR4720, |