| - GRCh37:
- Chr16:49719432-68435615
- GRCh38:
- Chr16:49685521-68401712
| ACD, ADCY7, ADGRG1, ADGRG3, ADGRG5, AGRP, AKTIP, AMFR, ARL2BP, ATP6V0D1, ATP6V0D1-DT, B3GNT9, BBS2, BEAN1, BEAN1-AS1, BRD7, C16orf86, CA7, CAPNS2, CARMIL2, CASC16, CASC22, CBFB, CCDC102A, CCDC113, CCL17, CCL22, CDH11, CDH16, CDH5, CDH8, CENPT, CES1, CES2, CES3, CES4A, CES5A, CETP, CFAP20, CHD9, CHD9NB, CIAO2B, CIAPIN1, CKLF, CKLF-CMTM1, CMTM1, CMTM2, CMTM3, CMTM4, CNEP1R1, CNGB1, CNOT1, COQ9, CPNE2, CRNDE, CSNK2A2, CTCF, CTCF-DT, CTRL, CX3CL1, CYLD, CYLD-AS1, CYLD-AS2, DDX28, DOK4, DPEP2, DPEP2NB, DPEP3, DRC7, DUS2, DYNC1LI2, DYNC1LI2-DT, E2F4, EDC4, ELMO3, ENKD1, ESRP2, EXOC3L1, FBXL8, FHOD1, FRA16B, FTO, FTO-IT1, GFOD2, GINS3, GNAO1, GNAO1-AS1, GNAO1-DT, GOT2, HEATR3, HERPUD1, HNRNPA1L3, HSD11B2, HSF4, IRX3, IRX5, IRX6, KATNB1, KCTD19, KIFC3, LCAT, LINC00919, LINC00920, LINC00922, LINC01571, LINC02126, LINC02127, LINC02128, LINC02137, LINC02140, LINC02141, LINC02168, LINC02169, LINC02178, LINC02180, LINC02911, LINC03064, LOC100505942, LOC101927272, LOC101927480, LOC101927556, LOC102723373, LOC105371296, LOC110120574, LOC110120575, LOC110120576, LOC110120577, LOC110120578, LOC110120579, LOC110120580, LOC110120581, LOC110120582, LOC110120583, LOC110120584, LOC110120585, LOC110120586, LOC110120587, LOC110120588, LOC110120835, LOC110120836, LOC110120837, LOC110120838, LOC110120839, LOC110120840, LOC110120841, LOC110120912, LOC110120939, LOC110121339, LOC110121356, LOC110121443, LOC112449715, LOC112449716, LOC112449717, LOC112469003, LOC112469004, LOC112469005, LOC112469006, LOC112469007, LOC112469008, LOC112469009, LOC112469010, LOC112469011, LOC112469012, LOC112469013, LOC112469014, LOC112469015, LOC112469016, LOC113939954, LOC121587545, LOC121587546, LOC121587547, LOC121587548, LOC121587549, LOC121587550, LOC121587551, LOC121847987, LOC121847988, LOC121847989, LOC125177305, LOC125177306, LOC125177307, LOC125177308, LOC125177309, LOC125177311, LOC125177312, 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, LOC126862342, LOC126862343, LOC126862344, LOC126862345, LOC126862346, LOC126862347, LOC126862348, LOC126862349, LOC126862350, LOC126862351, LOC126862352, 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, LOC388282, LPCAT2, LRRC29, LRRC36, MATCAP1, MIR138-2, MIR3181, MIR328, MIR3935, MIR6771, MIR6772, MIR6773, MIR6863, MMP15, MMP2, MMP2-AS1, MT1A, MT1B, MT1E, MT1F, MT1G, MT1H, MT1M, MT1X, MT2A, MT3, MT4, NAE1, NDRG4, NFATC3, NKD1, NLRC5, NOD2, NOL3, NRN1L, NUDT21, NUP93, NUP93-DT, NUTF2, OGFOD1, PARD6A, PDP2, PHAF1, PLA2G15, PLEKHG4, PLLP, POLR2C, PRMT7, PRSS54, PSKH1, PSMB10, PSME3IP1, RANBP10, RBL2, RIPOR1, RPGRIP1L, RRAD, RSPRY1, SALL1, SETD6, SLC12A3, SLC12A4, SLC38A7, SLC6A2, SLC7A6, SLC7A6OS, SLC9A5, SMPD3, SNORA46, SNORA50A, SNX20, SPMIP8, TENT4B, TERB1, THAP11, TK2, TMEM208, TOX3, TPPP3, TRADD, TRL-CAG2-1, TRL-CAG2-2, TSNAXIP1, USB1, ZDHHC1, ZNF319, ZNF423 | | See cases | Pathogenic (Mar 18, 2014) | no assertion criteria provided |
| - GRCh37:
- Chr16:52933095-90155062
- GRCh38:
- Chr16:52899183-90088654
| 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, 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, CDH1, CDH11, CDH13, CDH13-AS1, CDH13-AS2, CDH15, CDH16, 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, LOC105371296, LOC105371328, LOC105371335, LOC105371347, 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 | | See cases | Pathogenic (Sep 27, 2013) | no assertion criteria provided |
| - GRCh37:
- Chr16:56917504-71313878
- GRCh38:
- Chr16:56883592-71279975
| AARS1, ACD, ADGRG1, ADGRG3, ADGRG5, AGRP, ARL2BP, ATP6V0D1, ATP6V0D1-DT, B3GNT9, BEAN1, BEAN1-AS1, C16orf86, CA7, CARMIL2, CBFB, CCDC102A, CCDC113, CCL17, CCL22, CDH1, CDH11, CDH16, CDH3, CDH5, CDH8, CENPT, CES2, CES3, CES4A, CETP, CFAP20, CHTF8, CIAO2B, CIAPIN1, CKLF, CKLF-CMTM1, CLEC18A, CLEC18C, CMTM1, CMTM2, CMTM3, CMTM4, CNGB1, CNOT1, COG4, COG8, COQ9, CPNE2, CSNK2A2, CTCF, CTCF-DT, CTRL, CX3CL1, CYB5B, DDX19A, DDX19A-DT, DDX19B, DDX28, DERPC, DOK4, DPEP2, DPEP2NB, DPEP3, DRC7, DUS2, DYNC1LI2, DYNC1LI2-DT, E2F4, EDC4, ELMO3, ENKD1, ESRP2, EXOC3L1, EXOSC6, FBXL8, FCSK, FHOD1, FRA16B, GFOD2, GINS3, GOT2, HAS3, HERPUD1, HSD11B2, HSF4, HYDIN, IL34, KATNB1, KCTD19, KIFC3, LCAT, LINC00920, LINC00922, LINC02126, LINC02137, LINC02141, LOC100505942, LOC101927556, LOC105371296, LOC105371328, LOC110121356, LOC110121443, LOC112469004, LOC112469005, LOC112469006, LOC112469007, LOC112469008, LOC112469009, LOC112469010, LOC112469011, LOC112469012, LOC112469013, LOC112469014, LOC112469015, LOC112469016, LOC112486201, LOC112486202, LOC112486203, LOC112486204, LOC121587546, LOC121587547, LOC121587548, LOC121587549, LOC121587550, LOC121587551, LOC121587552, LOC121587553, LOC121587554, LOC121587555, LOC121847989, LOC121847990, LOC125177322, LOC125177323, LOC125177324, LOC125177325, LOC125177326, LOC125177327, LOC125177328, LOC125177330, LOC125177332, LOC125177333, LOC125177334, LOC125177336, LOC125177337, LOC125177338, LOC125177339, LOC125177340, LOC125177341, LOC125177342, LOC125177343, LOC125177344, LOC125177345, LOC125177346, LOC125177347, 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, LOC128772395, LOC128772396, LOC128772397, LOC128772398, LOC128772399, LOC128772400, LOC128772401, LOC128772402, LOC128772403, LOC128772404, LOC128772405, LOC128772406, LOC128772407, LOC128772408, LOC128772409, LOC128772410, LOC128772411, LOC128772412, LOC128772413, LOC128772414, LOC128822932, LOC128822933, LOC128849170, LOC388282, LOC400541, LRRC29, LRRC36, MATCAP1, MIR140, MIR1538, MIR1972-2, MIR328, MIR6772, MIR6773, MIR6863, MMP15, MTSS2, NAE1, NDRG4, NFAT5, NFATC3, NIP7, NLRC5, NOB1, NOL3, NQO1, NQO1-DT, NRN1L, NUTF2, PARD6A, PDF, PDP2, PDPR, PHAF1, PLA2G15, PLEKHG4, PLLP, POLR2C, PRMT7, PRSS54, PSKH1, PSMB10, PSME3IP1, RANBP10, RIPOR1, RRAD, RSPRY1, SETD6, SF3B3, SLC12A3, SLC12A4, SLC38A7, SLC7A6, SLC7A6OS, SLC9A5, SMPD3, SNORA46, SNORA50A, SNORD111, SNORD111B, SNORD13H, SNTB2, SPMIP8, ST3GAL2, TANGO6, TERB1, TERF2, THAP11, TK2, TMED6, TMEM208, TPPP3, TRADD, TRG-GCC2-4, TRG-GCC2-5, TRG-GCC3-1, TRG-GCC5-1, TRL-CAG2-1, TRL-CAG2-2, TSNAXIP1, USB1, UTP4, VAC14, VAC14-AS1, VPS4A, WWP2, ZDHHC1, ZFP90, ZNF319 | | See cases | Pathogenic (Aug 12, 2011) | criteria provided, single submitter |
| - GRCh37:
- Chr16:58490026-74742621
- GRCh38:
- Chr16:58456122-74708723
| LINC01572, LINC02126, LINC02136, LINC02137, LINC02141, LOC100505942, LOC105371296, LOC105371328, LOC105371335, LOC105376772, LOC108251797, LOC110120571, LOC110120572, LOC110120573, LOC110120824, LOC110121356, LOC110121410, LOC110121436, LOC110121443, LOC111413029, LOC112469013, LOC112469014, LOC112469015, LOC112469016, LOC112486201, LOC112486202, LOC112486203, LOC112486204, LOC112486205, LOC112486206, LOC121587548, LOC121587549, LOC121587550, LOC121587551, LOC121587552, LOC121587553, LOC121587554, LOC121587555, LOC121587556, LOC121587557, LOC121587558, LOC121587559, LOC121587560, LOC121587561, LOC121847990, LOC125177327, LOC125177328, LOC125177330, LOC125177332, LOC125177333, LOC125177334, LOC125177336, LOC125177337, LOC125177338, LOC125177339, LOC125177340, LOC125177341, LOC125177342, LOC125177343, LOC125177344, LOC125177345, LOC125177346, LOC125177347, LOC125177348, LOC125177349, LOC125177350, 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, LOC128772395, LOC128772396, LOC128772397, LOC128772398, LOC128772399, LOC128772400, LOC128772401, LOC128772402, LOC128772403, LOC128772404, LOC128772405, LOC128772406, LOC128772407, LOC128772408, LOC128772409, LOC128772410, LOC128772411, LOC128772412, LOC128772413, LOC128772414, LOC128822932, LOC128822933, LOC128849170, LOC400541, LOHAN2, LRRC29, LRRC36, MARVELD3, MATCAP1, MIR140, MIR1538, MIR1972-2, MIR328, MIR6773, MLKL, MTSS2, NAE1, NDRG4, NFAT5, NFATC3, NIP7, NOB1, NOL3, NPIPB15, NQO1, NQO1-DT, NRN1L, NUTF2, PARD6A, PDF, PDP2, PDPR, PHAF1, PHLPP2, PKD1L3, PLA2G15, PLEKHG4, PMFBP1, PRMT7, PSKH1, PSMB10, PSMD7, PSMD7-DT, RANBP10, RFWD3, RIPOR1, RRAD, SETD6, SF3B3, SLC12A4, SLC38A7, SLC7A6, SLC7A6OS, SLC9A5, SMPD3, SNORA46, SNORA50A, SNORA70D, SNORD111, SNORD111B, SNORD13H, SNORD71, SNTB2, ST3GAL2, TANGO6, TAT, TAT-AS1, TERB1, TERF2, THAP11, TK2, TLE7, TMED6, TMEM208, TPPP3, TRADD, TRG-GCC2-4, TRG-GCC2-5, TRG-GCC3-1, TRG-GCC5-1, TRK-TTT1-1, TRM-CAT2-1, TSNAXIP1, TXNL4B, UTP4, VAC14, VAC14-AS1, VPS4A, WWP2, ZDHHC1, ZFHX3, ZFHX3-AS1, ZFP90, ZNF19, ZNF23, ZNF821, AARS1, B3GNT9, ACD, AGRP, AP1G1, ATP6V0D1, ATP6V0D1-DT, ATXN1L, BEAN1, BEAN1-AS1, C16orf47, C16orf86, CA7, CALB2, CARMIL2, CBFB, CDH1, CDH11, CDH16, CDH3, CDH5, CDH8, CENPT, CES2, CES3, CES4A, CHST4, CHTF8, CIAO2B, CKLF, CKLF-CMTM1, CLEC18A, CLEC18B, CLEC18C, CMTM1, CMTM2, CMTM3, CMTM4, CMTR2, CNOT1, COG4, COG8, CTCF, CTCF-DT, CTRL, CYB5B, DDX19A, DDX19A-DT, DDX19B, DDX28, DERPC, DHODH, DHX38, DPEP2, DPEP2NB, DPEP3, DUS2, DYNC1LI2, DYNC1LI2-DT, E2F4, EDC4, ELMO3, ENKD1, ESRP2, EXOC3L1, EXOSC6, FBXL8, FCSK, FHOD1, FRA16B, GFOD2, GLG1, GOT2, HAS3, HCCAT5, HP, HPR, HSD11B2, HSF4, HYDIN, IL34, IST1, KCTD19, LCAT, LINC00920, LINC00922 | | See cases | Pathogenic (Aug 12, 2011) | criteria provided, single submitter |
| - GRCh37:
- Chr16:62213235-67804317
- GRCh38:
- Chr16:62179331-67770414
| BEAN1-AS1, ACD, AGRP, ATP6V0D1, ATP6V0D1-DT, B3GNT9, BEAN1, C16orf86, CA7, CARMIL2, CBFB, CDH11, CDH16, CDH5, CES2, CES3, CES4A, CIAO2B, CKLF, CKLF-CMTM1, CMTM1, CMTM2, CMTM3, CMTM4, CTCF, CTCF-DT, DYNC1LI2, DYNC1LI2-DT, E2F4, ELMO3, ENKD1, EXOC3L1, FBXL8, FHOD1, FRA16B, GFOD2, HSD11B2, HSF4, KCTD19, LINC00920, LINC00922, LINC02126, LOC100505942, LOC110121443, LOC112469016, LOC121587549, LOC121587550, LOC125177330, LOC125177332, LOC125177333, LOC125177334, LOC125177336, LOC125177337, LOC126862367, LOC126862368, LOC126862369, LOC126862370, LOC126862371, LOC126862372, LOC126862373, LOC126862374, LOC126862375, LOC126862376, LOC126862377, LOC126862378, LOC126862379, LRRC29, LRRC36, MATCAP1, MIR328, NAE1, NOL3, PARD6A, PDP2, PHAF1, PLEKHG4, RANBP10, RIPOR1, RRAD, SLC9A5, TERB1, TK2, TMEM208, TPPP3, TRADD, ZDHHC1 | | See cases | Pathogenic (Aug 12, 2011) | criteria provided, single submitter |
| - GRCh37:
- Chr16:62959833-84619401
- GRCh38:
- Chr16:62925929-84585795
| AARS1, ARLNC1, ACD, ADAD2, ADAMTS18, ADAT1, AGRP, AP1G1, ATMIN, ATP2C2, ATP2C2-AS1, ATP6V0D1, ATP6V0D1-DT, ATXN1L, B3GNT9, BCAR1, BCO1, BEAN1, BEAN1-AS1, C16orf46, C16orf47, C16orf86, CA7, CALB2, CARMIL2, CBFB, CDH1, CDH11, CDH13, CDH13-AS1, CDH13-AS2, CDH16, CDH3, CDH5, CDYL2, CEDORA, CENPN, CENPT, CES2, CES3, CES4A, CFDP1, CHST4, CHST5, CHST6, CHTF8, CIAO2B, CKLF, CKLF-CMTM1, CLEC18A, CLEC18B, CLEC18C, CLEC3A, CMC2, CMIP, CMTM1, CMTM2, CMTM3, CMTM4, CMTR2, CNTNAP4, COG4, COG8, COTL1, CPHXL, CPHXL2, CTCF, CTCF-DT, CTRB1, CTRB2, CTRL, CYB5B, DDX19A, DDX19A-DT, DDX19B, DDX28, DERPC, DHODH, DHX38, DNAAF1, DPEP2, DPEP2NB, DPEP3, DUS2, DUXB, DYNC1LI2, DYNC1LI2-DT, DYNLRB2, DYNLRB2-AS1, E2F4, EDC4, ELMO3, ENKD1, ESRP2, EXOC3L1, EXOSC6, FA2H, FBXL8, FCSK, FHOD1, FRA16B, GABARAPL2, GAN, GCSH, GFOD2, GLG1, HAS3, HCCAT5, HP, HPR, HSBP1, HSD11B2, HSD17B2, HSD17B2-AS1, HSDL1, HSF4, HYDIN, IL34, IST1, KARS1, KCNG4, KCTD19, LCAT, LDHD, LINC00920, LINC00922, LINC01227, LINC01228, LINC01229, LINC01572, LINC02125, LINC02126, LINC02131, LINC02136, LOC100129617, LOC100505942, LOC100506281, LOC101928230, LOC101928392, LOC101928417, LOC101928446, LOC105371328, LOC105371335, LOC105371347, LOC105376772, LOC108251797, LOC108254672, LOC110120569, LOC110120570, LOC110120571, LOC110120572, LOC110120573, LOC110120824, LOC110121410, LOC110121436, LOC110121443, LOC110121468, LOC111365156, LOC111365213, LOC111413029, LOC111429607, LOC111556152, LOC112469016, LOC112486201, LOC112486202, LOC112486203, LOC112486204, LOC112486205, LOC112486206, LOC112486207, LOC112486208, LOC112486209, LOC112486210, LOC112486211, LOC112486212, LOC112486213, LOC112486214, LOC112486215, LOC113939956, LOC121587549, LOC121587550, LOC121587551, LOC121587552, LOC121587553, LOC121587554, LOC121587555, LOC121587556, LOC121587557, LOC121587558, LOC121587559, LOC121587560, LOC121587561, LOC121587562, LOC121587563, LOC121587564, LOC121587565, LOC121847990, LOC121847991, LOC121847992, LOC121847993, LOC121847994, 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, 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, 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, LOC128779116, LOC128822932, LOC128822933, LOC128849170, LOC128849171, LOC128849173, LOC400541, LOC654780, LOHAN2, LRRC29, LRRC36, MAF, MAFTRR, MARVELD3, MATCAP1, MBTPS1, MEAK7, MIR140, MIR1538, MIR1972-2, MIR3182, MIR328, MIR4719, MIR4720, MIR6504, MIR6773, MIR7854, MIR8058, MLKL, MLYCD, MON1B, MPHOSPH6, MTSS2, NAE1, NECAB2, NFAT5, NFATC3, NIP7, NOB1, NOL3, NPIPB15, NQO1, NQO1-DT, NRN1L, NUDT7, NUTF2, OSGIN1, PARD6A, PDF, PDP2, PDPR, PHAF1, PHLPP2, PKD1L2, PKD1L3, PLA2G15, PLCG2, PLEKHG4, PMFBP1, PRMT7, PSKH1, PSMB10, PSMD7, PSMD7-DT, RANBP10, RFWD3, RIPOR1, RRAD, SDR42E1, SF3B3, SLC12A4, SLC38A8, SLC7A6, SLC7A6OS, SLC9A5, SMPD3, SNORA70D, SNORD111, SNORD111B, SNORD13H, SNORD71, SNTB2, ST3GAL2, SYCE1L, TAF1C, TANGO6, TAT, TAT-AS1, TERB1, TERF2, TERF2IP, THAP11, TK2, TLE7, TMED6, TMEM170A, TMEM208, TMEM231, TPPP3, TRADD, TRG-GCC2-4, TRG-GCC2-5, TRG-GCC3-1, TRG-GCC5-1, TRK-TTT1-1, TRM-CAT2-1, TSNAXIP1, TXNL4B, UTP4, VAC14, VAC14-AS1, VAT1L, VPS4A, WDR59, WFDC1, WWOX, WWOX-AS1, WWP2, ZDHHC1, ZFHX3, ZFHX3-AS1, ZFP1, ZFP90, ZNF19, ZNF23, ZNF821, ZNRF1 | | See cases | Pathogenic (Oct 20, 2010) | no assertion criteria provided |
| - GRCh37:
- Chr16:64345179-68095914
- GRCh38:
- Chr16:64311275-68062011
| ACD, AGRP, ATP6V0D1, ATP6V0D1-DT, B3GNT9, BEAN1, BEAN1-AS1, C16orf86, CA7, CARMIL2, CBFB, CDH11, CDH16, CDH5, CENPT, CES2, CES3, CES4A, CIAO2B, CKLF, CKLF-CMTM1, CMTM1, CMTM2, CMTM3, CMTM4, CTCF, CTCF-DT, CTRL, DDX28, DPEP2, DPEP2NB, DPEP3, DUS2, DYNC1LI2, DYNC1LI2-DT, E2F4, EDC4, ELMO3, ENKD1, EXOC3L1, FBXL8, FHOD1, FRA16B, GFOD2, HSD11B2, HSF4, KCTD19, LCAT, LINC00920, LINC00922, LINC02126, LOC100505942, LOC110121443, LOC112469016, LOC121587549, LOC121587550, LOC125177332, LOC125177333, LOC125177334, LOC125177336, LOC125177337, LOC125177338, LOC126862369, LOC126862370, LOC126862371, LOC126862372, LOC126862373, LOC126862374, LOC126862375, LOC126862376, LOC126862377, LOC126862378, LOC126862379, LOC126862380, LRRC29, LRRC36, MATCAP1, MIR328, NAE1, NOL3, NRN1L, NUTF2, PARD6A, PDP2, PHAF1, PLEKHG4, PSKH1, PSMB10, RANBP10, RIPOR1, RRAD, SLC12A4, SLC9A5, TERB1, THAP11, TK2, TMEM208, TPPP3, TRADD, TSNAXIP1, ZDHHC1 | | See cases | Pathogenic (Aug 12, 2011) | criteria provided, single submitter |
| - GRCh37:
- Chr16:64423281-90148393
- GRCh38:
- Chr16:64389378-90081985
| 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, 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, 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
| 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, 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, 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 | | See cases | Pathogenic (Aug 12, 2011) | criteria provided, single submitter |
| - GRCh37:
- Chr16:65545386-90163403
- GRCh38:
- Chr16:65511483-90096995
| ZFHX3-AS1, ZFP1, ZFP90, ZFPM1, ZFPM1-AS1, ZNF19, ZNF23, ZNF276, ZNF469, ZNF778, ZNF821, ZNRF1, 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, 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, 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 | | See cases | Pathogenic (Jul 2, 2012) | no assertion criteria provided |
| - GRCh37:
- Chr16:65991732-83645048
- GRCh38:
- Chr16:65957829-83611443
| AARS1, ACD, ADAMTS18, ADAT1, AGRP, AP1G1, ARLNC1, ATMIN, ATP6V0D1, ATP6V0D1-DT, ATXN1L, B3GNT9, BCAR1, BCO1, BEAN1, BEAN1-AS1, C16orf46, C16orf47, C16orf86, CA7, CALB2, CARMIL2, CBFB, CDH1, CDH13, CDH13-AS1, CDH16, CDH3, CDH5, CDYL2, CENPN, CENPT, CES2, CES3, CES4A, CFDP1, CHST4, CHST5, CHST6, CHTF8, CIAO2B, CKLF, CKLF-CMTM1, CLEC18A, CLEC18B, CLEC18C, CLEC3A, CMC2, CMIP, CMTM1, CMTM2, CMTM3, CMTM4, CMTR2, CNTNAP4, COG4, COG8, CPHXL, CPHXL2, CTCF, CTCF-DT, CTRB1, CTRB2, CTRL, CYB5B, DDX19A, DDX19A-DT, DDX19B, DDX28, DERPC, DHODH, DHX38, DPEP2, DPEP2NB, DPEP3, DUS2, DUXB, DYNC1LI2, DYNC1LI2-DT, DYNLRB2, DYNLRB2-AS1, E2F4, EDC4, ELMO3, ENKD1, ESRP2, EXOC3L1, EXOSC6, FA2H, FBXL8, FCSK, FHOD1, GABARAPL2, GAN, GCSH, GFOD2, GLG1, HAS3, HCCAT5, HP, HPR, HSD11B2, HSD17B2, HSD17B2-AS1, HSF4, HYDIN, IL34, IST1, KARS1, KCTD19, LCAT, LDHD, LINC00920, LINC01227, LINC01228, LINC01229, LINC01572, LINC02125, LINC02131, LINC02136, LOC100129617, LOC100505942, LOC100506281, LOC101928230, LOC101928392, LOC101928417, LOC101928446, LOC105371328, LOC105371335, LOC105371347, LOC105376772, LOC108251797, LOC108254672, LOC110120569, LOC110120570, LOC110120571, LOC110120572, LOC110120573, LOC110120824, LOC110121410, LOC110121436, LOC110121443, LOC110121468, LOC111365156, LOC111365213, LOC111413029, LOC111429607, LOC111556152, LOC112469016, LOC112486201, LOC112486202, LOC112486203, LOC112486204, LOC112486205, LOC112486206, LOC112486207, LOC112486208, LOC112486209, LOC112486210, LOC112486211, LOC112486212, LOC112486213, LOC112486214, LOC113939956, LOC121587549, LOC121587550, LOC121587551, LOC121587552, LOC121587553, LOC121587554, LOC121587555, LOC121587556, LOC121587557, LOC121587558, LOC121587559, LOC121587560, LOC121587561, LOC121587562, LOC121587563, LOC121587564, LOC121587565, LOC121847990, LOC121847991, LOC121847992, LOC121847993, LOC121847994, 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, 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, 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, LOC128779116, LOC128822932, LOC128822933, LOC128849170, LOC128849171, LOC128849173, LOC400541, LOHAN2, LRRC29, LRRC36, MAF, MAFTRR, MARVELD3, MATCAP1, MIR140, MIR1538, MIR1972-2, MIR3182, MIR328, MIR4719, MIR4720, MIR6504, MIR6773, MIR7854, MIR8058, MLKL, MON1B, MPHOSPH6, MTSS2, NAE1, NFAT5, NFATC3, NIP7, NOB1, NOL3, NPIPB15, NQO1, NQO1-DT, NRN1L, NUDT7, NUTF2, PARD6A, PDF, PDP2, PDPR, PHAF1, PHLPP2, PKD1L2, PKD1L3, PLA2G15, PLCG2, PLEKHG4, PMFBP1, PRMT7, PSKH1, PSMB10, PSMD7, PSMD7-DT, RANBP10, RFWD3, RIPOR1, RRAD, SDR42E1, SF3B3, SLC12A4, SLC7A6, SLC7A6OS, SLC9A5, SMPD3, SNORA70D, SNORD111, SNORD111B, SNORD13H, SNORD71, SNTB2, ST3GAL2, SYCE1L, TANGO6, TAT, TAT-AS1, TERB1, TERF2, TERF2IP, THAP11, TK2, TLE7, TMED6, TMEM170A, TMEM208, TMEM231, TPPP3, TRADD, TRG-GCC2-4, TRG-GCC2-5, TRG-GCC3-1, TRG-GCC5-1, TRK-TTT1-1, TRM-CAT2-1, TSNAXIP1, TXNL4B, UTP4, VAC14, VAC14-AS1, VAT1L, VPS4A, WDR59, WWOX, WWOX-AS1, WWP2, ZDHHC1, ZFHX3, ZFHX3-AS1, ZFP1, ZFP90, ZNF19, ZNF23, ZNF821, ZNRF1 | | See cases | Pathogenic (Mar 10, 2014) | no assertion criteria provided |
| - GRCh37:
- Chr16:66728083-67899348
- GRCh38:
- Chr16:66694180-67865445
| ACD, AGRP, ATP6V0D1, ATP6V0D1-DT, B3GNT9, C16orf86, CA7, CARMIL2, CBFB, CDH16, CENPT, CES2, CES3, CES4A, CIAO2B, CMTM4, CTCF, CTCF-DT, DYNC1LI2, DYNC1LI2-DT, E2F4, ELMO3, ENKD1, EXOC3L1, FBXL8, FHOD1, GFOD2, HSD11B2, HSF4, KCTD19, LOC100505942, LOC110121443, LOC112469016, LOC121587550, LOC125177333, LOC125177334, LOC125177336, LOC125177337, LOC126862375, LOC126862376, LOC126862377, LOC126862378, LOC126862379, LRRC29, LRRC36, MATCAP1, MIR328, NAE1, NOL3, NUTF2, PARD6A, PDP2, PHAF1, PLEKHG4, RANBP10, RIPOR1, RRAD, SLC9A5, TERB1, THAP11, TMEM208, TPPP3, TRADD, TSNAXIP1, ZDHHC1 | | See cases | Pathogenic (Aug 12, 2011) | criteria provided, single submitter |
| - GRCh37:
- Chr16:67691240
- GRCh38:
- Chr16:67657337
| ACD, CARMIL2 | | not provided | Benign (Aug 19, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr16:67691258
- GRCh38:
- Chr16:67657355
| CARMIL2, ACD | | Severe combined immunodeficiency due to CARMIL2 deficiency, not provided | Benign/Likely benign (Nov 7, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr16:67691418
- GRCh38:
- Chr16:67657515
| ACD, CARMIL2 | | not provided | Likely benign (Jul 6, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr16:67691477
- GRCh38:
- Chr16:67657574
| ACD | | not provided | Benign (Jan 24, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr16:67691513
- GRCh38:
- Chr16:67657610
| ACD | M455K, M429K, M458K | Dyskeratosis congenita, autosomal dominant 6 | Uncertain significance (Apr 19, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr16:67691515
- GRCh38:
- Chr16:67657612
| ACD | | Inborn genetic diseases | Likely benign (Feb 12, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr16:67691515-67691516
- GRCh38:
- Chr16:67657612-67657613
| ACD | P454L, P457L | Dyskeratosis congenita, autosomal dominant 6 | Uncertain significance (Sep 1, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr16:67691515
- GRCh38:
- Chr16:67657612
| ACD | | Dyskeratosis congenita, autosomal dominant 6, not provided, not specified
| Benign (Aug 15, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr16:67691516
- GRCh38:
- Chr16:67657613
| ACD | P457R, P454R, P428R | Inborn genetic diseases | Uncertain significance (Nov 22, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr16:67691516
- GRCh38:
- Chr16:67657613
| ACD | P454L, P457L | not specified, Dyskeratosis congenita, autosomal dominant 6, Inborn genetic diseases
| Uncertain significance (Aug 19, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr16:67691517
- GRCh38:
- Chr16:67657614
| ACD | P454T, P457T, P428T | Dyskeratosis congenita, autosomal dominant 6 | Uncertain significance (May 4, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr16:67691517
- GRCh38:
- Chr16:67657614
| ACD | P428A, P457A, P454A | Inborn genetic diseases | Uncertain significance (Mar 8, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr16:67691519
- GRCh38:
- Chr16:67657616
| ACD | T427I, T453I, T456I | Inborn genetic diseases | Uncertain significance (Jun 5, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr16:67691519-67691522
- GRCh38:
- Chr16:67657616-67657619
| ACD | P452fs, P455fs | Inborn genetic diseases, Dyskeratosis congenita, autosomal dominant 6 | Uncertain significance (Mar 24, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr16:67691523
- GRCh38:
- Chr16:67657620
| ACD | P455S, P452S, P426S | Dyskeratosis congenita, autosomal dominant 6 | Uncertain significance (Mar 28, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr16:67691529
- GRCh38:
- Chr16:67657626
| ACD | S450A, S424A, S453A | Inborn genetic diseases | Uncertain significance (Dec 24, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr16:67691530
- GRCh38:
- Chr16:67657627
| ACD | | Inborn genetic diseases, Dyskeratosis congenita, autosomal dominant 6 | Likely benign (Apr 11, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr16:67691531
- GRCh38:
- Chr16:67657628
| ACD | G452E, G423E, G449E | Inborn genetic diseases | Likely benign (Feb 3, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr16:67691531
- GRCh38:
- Chr16:67657628
| ACD | G449V, G423V, G452V | Inborn genetic diseases | Uncertain significance (Mar 24, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr16:67691532
- GRCh38:
- Chr16:67657629
| ACD | G423R, G449R, G452R | Inborn genetic diseases | Uncertain significance (Jul 18, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr16:67691535
- GRCh38:
- Chr16:67657632
| ACD | P422S, P448S, P451S | Inborn genetic diseases | Uncertain significance (Apr 7, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr16:67691539
- GRCh38:
- Chr16:67657636
| ACD | | Inborn genetic diseases | Likely benign (Jun 18, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr16:67691542
- GRCh38:
- Chr16:67657639
| ACD | | Inborn genetic diseases | Likely benign (Jan 18, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr16:67691544
- GRCh38:
- Chr16:67657641
| ACD | D419N, D445N, D448N | Dyskeratosis congenita, autosomal dominant 6, Inborn genetic diseases | Uncertain significance (Nov 6, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr16:67691546
- GRCh38:
- Chr16:67657643
| ACD | M444T, M418T, M447T | Inborn genetic diseases | Uncertain significance (Sep 20, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr16:67691547
- GRCh38:
- Chr16:67657644
| ACD | M444L, M418L, M447L | Inborn genetic diseases | Uncertain significance (Nov 20, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr16:67691550
- GRCh38:
- Chr16:67657647
| ACD | | Inborn genetic diseases, Dyskeratosis congenita, autosomal dominant 6, not specified
| Benign/Likely benign (Nov 3, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr16:67691552
- GRCh38:
- Chr16:67657649
| ACD | F442S, F445S | Dyskeratosis congenita, autosomal dominant 6 | Uncertain significance (Sep 13, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr16:67691553
- GRCh38:
- Chr16:67657650
| ACD | F445L, F416L, F442L | Inborn genetic diseases, Dyskeratosis congenita, autosomal dominant 6 | Uncertain significance (Jul 26, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr16:67691554
- GRCh38:
- Chr16:67657651
| ACD | | Inborn genetic diseases | Likely benign (Jan 27, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr16:67691555
- GRCh38:
- Chr16:67657652
| ACD | H415P, H444P, H441P | Inborn genetic diseases | Uncertain significance (Feb 12, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr16:67691556
- GRCh38:
- Chr16:67657653
| ACD | H415N, H441N, H444N | Inborn genetic diseases | Uncertain significance (May 28, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr16:67691556
- GRCh38:
- Chr16:67657653
| ACD | H444Y, H441Y, H415Y | Inborn genetic diseases | Uncertain significance (Feb 5, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr16:67691566
- GRCh38:
- Chr16:67657663
| ACD | | Inborn genetic diseases, Dyskeratosis congenita, autosomal dominant 6 | Likely benign (Jul 19, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr16:67691568
- GRCh38:
- Chr16:67657665
| ACD | A411T, A440T, A437T | Inborn genetic diseases | Uncertain significance (Feb 12, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr16:67691570
- GRCh38:
- Chr16:67657667
| ACD | M436T, M439T, M410T | Inborn genetic diseases | Uncertain significance (Jul 24, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr16:67691571
- GRCh38:
- Chr16:67657668
| ACD | M439V, M410V, M436V | Inborn genetic diseases | Likely benign (Jan 21, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr16:67691572
- GRCh38:
- Chr16:67657669
| ACD | | Dyskeratosis congenita, autosomal dominant 6, Inborn genetic diseases | Likely benign (Oct 18, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr16:67691576
- GRCh38:
- Chr16:67657673
| ACD | Q408R, Q434R, Q437R | Inborn genetic diseases | Uncertain significance (Feb 27, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr16:67691578
- GRCh38:
- Chr16:67657675
| ACD | | Inborn genetic diseases | Likely benign (Oct 8, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr16:67691580
- GRCh38:
- Chr16:67657677
| ACD | P436S, P433S | Dyskeratosis congenita, autosomal dominant 6 | Uncertain significance (Sep 1, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr16:67691587
- GRCh38:
- Chr16:67657684
| ACD | R430S, R404S, R433S | Inborn genetic diseases | Uncertain significance (Aug 22, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr16:67691587
- GRCh38:
- Chr16:67657684
| ACD | | Inborn genetic diseases, Dyskeratosis congenita, autosomal dominant 6 | Conflicting interpretations of pathogenicity (Jul 1, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr16:67691591
- GRCh38:
- Chr16:67657688
| ACD | | Dyskeratosis congenita, autosomal dominant 6 | Likely benign (Mar 26, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr16:67691601
- GRCh38:
- Chr16:67657698
| ACD | | Dyskeratosis congenita, autosomal dominant 6 | Likely benign (Aug 15, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr16:67691603
- GRCh38:
- Chr16:67657700
| ACD | | Dyskeratosis congenita, autosomal dominant 6 | Likely benign (Sep 1, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr16:67691645
- GRCh38:
- Chr16:67657742
| ACD | | Dyskeratosis congenita, autosomal dominant 6, not provided | Benign (Nov 4, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr16:67691656
- GRCh38:
- Chr16:67657753
| ACD | | Dyskeratosis congenita, autosomal dominant 6 | Likely benign (Nov 7, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr16:67691664
- GRCh38:
- Chr16:67657761
| ACD | | Dyskeratosis congenita, autosomal dominant 6 | Uncertain significance (Aug 15, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr16:67691666
- GRCh38:
- Chr16:67657763
| ACD | R404W, R430W, R433W | Inborn genetic diseases | Uncertain significance (Sep 30, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr16:67691666
- GRCh38:
- Chr16:67657763
| ACD | | Dyskeratosis congenita, autosomal dominant 6 | Uncertain significance (Sep 30, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr16:67691668
- GRCh38:
- Chr16:67657765
| ACD | V429A, V432A | Dyskeratosis congenita, autosomal dominant 6, not provided | Benign (Nov 4, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr16:67691670
- GRCh38:
- Chr16:67657767
| ACD | | Dyskeratosis congenita, autosomal dominant 6 | Likely benign (Jan 21, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr16:67691671
- GRCh38:
- Chr16:67657768
| ACD | A431V, A402V, A428V | Inborn genetic diseases | Uncertain significance (Aug 27, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr16:67691674
- GRCh38:
- Chr16:67657771
| ACD | Q430R, Q427R, Q401R | Dyskeratosis congenita, autosomal dominant 6 | Uncertain significance (Aug 3, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr16:67691676
- GRCh38:
- Chr16:67657773
| ACD | | Inborn genetic diseases | Likely benign (Jan 22, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr16:67691679
- GRCh38:
- Chr16:67657776
| ACD | | Inborn genetic diseases | Likely benign (May 21, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr16:67691680
- GRCh38:
- Chr16:67657777
| ACD | R425Q, R428Q | Inborn genetic diseases, Dyskeratosis congenita, autosomal dominant 6 | Conflicting interpretations of pathogenicity (Jul 26, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr16:67691681
- GRCh38:
- Chr16:67657778
| ACD | R425W, R428W | Dyskeratosis congenita, autosomal dominant 6, Inborn genetic diseases | Uncertain significance (Oct 31, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr16:67691682
- GRCh38:
- Chr16:67657779
| ACD | | Inborn genetic diseases | Likely benign (Jul 29, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr16:67691683
- GRCh38:
- Chr16:67657780
| ACD | A424V, A427V, A398V | Inborn genetic diseases, Dyskeratosis congenita, autosomal dominant 6 | Uncertain significance (Jun 1, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr16:67691686
- GRCh38:
- Chr16:67657783
| ACD | C397Y, C426Y, C423Y | Inborn genetic diseases | Uncertain significance (Jul 16, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr16:67691690
- GRCh38:
- Chr16:67657787
| ACD | L396F, L422F, L425F | Inborn genetic diseases | Uncertain significance (Sep 10, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr16:67691690
- GRCh38:
- Chr16:67657787
| ACD | L396V, L422V, L425V | Inborn genetic diseases | Uncertain significance (Dec 25, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr16:67691692
- GRCh38:
- Chr16:67657789
| ACD | S395F, S421F, S424F | Inborn genetic diseases | Uncertain significance (Sep 1, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr16:67691694
- GRCh38:
- Chr16:67657791
| ACD | | Inborn genetic diseases, Dyskeratosis congenita, autosomal dominant 6 | Likely benign (Oct 4, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr16:67691695
- GRCh38:
- Chr16:67657792
| ACD | T420M, T423M | not specified, Inborn genetic diseases, Dyskeratosis congenita, autosomal dominant 6
| Uncertain significance (Aug 15, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr16:67691697
- GRCh38:
- Chr16:67657794
| ACD | C419W, C393W, C422W | Inborn genetic diseases | Uncertain significance (Apr 24, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr16:67691699
- GRCh38:
- Chr16:67657796
| ACD | C422R, C393R, C419R | Inborn genetic diseases | Uncertain significance (Sep 4, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr16:67691701
- GRCh38:
- Chr16:67657798
| ACD | P421R, P418R | Dyskeratosis congenita, autosomal dominant 6 | Uncertain significance (Sep 17, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr16:67691701
- GRCh38:
- Chr16:67657798
| ACD | P418L, P421L | Dyskeratosis congenita, autosomal dominant 6 | Uncertain significance (Aug 28, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr16:67691703
- GRCh38:
- Chr16:67657800
| ACD | | Inborn genetic diseases | Likely benign (Jun 17, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr16:67691704
- GRCh38:
- Chr16:67657801
| ACD | P391L, P417L, P420L | Inborn genetic diseases | Uncertain significance (Feb 13, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr16:67691704
- GRCh38:
- Chr16:67657801
| ACD | P391R, P417R, P420R | Inborn genetic diseases, Dyskeratosis congenita, autosomal dominant 6 | Uncertain significance (Sep 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr16:67691706
- GRCh38:
- Chr16:67657803
| ACD | | Inborn genetic diseases | Likely benign (Oct 12, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr16:67691711
- GRCh38:
- Chr16:67657808
| ACD | Y415N, Y418N | Dyskeratosis congenita, autosomal dominant 6 | Uncertain significance (Aug 26, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr16:67691716
- GRCh38:
- Chr16:67657813
| ACD | Y416C, Y413C | Inborn genetic diseases, Dyskeratosis congenita, autosomal dominant 6 | Uncertain significance (Apr 4, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr16:67691717
- GRCh38:
- Chr16:67657814
| ACD | Y387H, Y413H, Y416H | Inborn genetic diseases | Uncertain significance (May 6, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr16:67691724
- GRCh38:
- Chr16:67657821
| ACD | | Inborn genetic diseases | Likely benign (Oct 7, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr16:67691725
- GRCh38:
- Chr16:67657822
| ACD | A413V, A410V | Dyskeratosis congenita, autosomal dominant 6 | Uncertain significance (Jan 3, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr16:67691726
- GRCh38:
- Chr16:67657823
| ACD | A413T, A410T, A384T | Inborn genetic diseases | Uncertain significance (Dec 15, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr16:67691726
- GRCh38:
- Chr16:67657823
| ACD | A410S, A413S | Inborn genetic diseases, Dyskeratosis congenita, autosomal dominant 6 | Uncertain significance (Nov 2, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr16:67691730
- GRCh38:
- Chr16:67657827
| ACD | | Inborn genetic diseases | Likely benign (Apr 25, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr16:67691731
- GRCh38:
- Chr16:67657828
| ACD | G382V, G408V, G411V | Inborn genetic diseases | Uncertain significance (Feb 23, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr16:67691732
- GRCh38:
- Chr16:67657829
| ACD | G382R, G408R, G411R | Inborn genetic diseases | Uncertain significance (Nov 4, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr16:67691737
- GRCh38:
- Chr16:67657834
| ACD | R409H, R406H | Inborn genetic diseases, not specified, Dyskeratosis congenita, autosomal dominant 6
| Uncertain significance (Aug 15, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr16:67691738
- GRCh38:
- Chr16:67657835
| ACD | R406C, R409C, R380C | Inborn genetic diseases | Uncertain significance (Dec 15, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr16:67691739
- GRCh38:
- Chr16:67657836
| ACD | H408Q, H379Q, H405Q | Dyskeratosis congenita, autosomal dominant 6 | Uncertain significance (Feb 3, 2022) | criteria provided, single submitter |