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VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review status
1.
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 casesPathogenic
(Mar 18, 2014)
no assertion criteria provided
2.
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 casesPathogenic
(Sep 27, 2013)
no assertion criteria provided
3.
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 casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
4.
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 casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
5.
GRCh37:
Chr16:62213235-67804317
GRCh38:
Chr16:62179331-67770414
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
6.
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 casesPathogenic
(Oct 20, 2010)
no assertion criteria provided
7.
GRCh37:
Chr16:64345179-68095914
GRCh38:
Chr16:64311275-68062011
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
8.
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 casesPathogenic
(Dec 22, 2010)
no assertion criteria provided
9.
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 casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
10.
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 casesPathogenic
(Jul 2, 2012)
no assertion criteria provided
11.
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 casesPathogenic
(Mar 10, 2014)
no assertion criteria provided
12.
GRCh37:
Chr16:66728083-67899348
GRCh38:
Chr16:66694180-67865445
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
13.
GRCh37:
Chr16:67691240
GRCh38:
Chr16:67657337
ACD, CARMIL2not providedBenign
(Aug 19, 2019)
criteria provided, single submitter
14.
GRCh37:
Chr16:67691258
GRCh38:
Chr16:67657355
CARMIL2, ACDSevere combined immunodeficiency due to CARMIL2 deficiency, not providedBenign/Likely benign
(Nov 7, 2021)
criteria provided, multiple submitters, no conflicts
15.
GRCh37:
Chr16:67691418
GRCh38:
Chr16:67657515
ACD, CARMIL2not providedLikely benign
(Jul 6, 2022)
criteria provided, single submitter
16.
GRCh37:
Chr16:67691477
GRCh38:
Chr16:67657574
ACDnot providedBenign
(Jan 24, 2019)
criteria provided, single submitter
17.
GRCh37:
Chr16:67691513
GRCh38:
Chr16:67657610
ACDM455K, M429K, M458KDyskeratosis congenita, autosomal dominant 6Uncertain significance
(Apr 19, 2022)
criteria provided, single submitter
18.
GRCh37:
Chr16:67691515
GRCh38:
Chr16:67657612
ACDInborn genetic diseasesLikely benign
(Feb 12, 2022)
criteria provided, single submitter
19.
GRCh37:
Chr16:67691515-67691516
GRCh38:
Chr16:67657612-67657613
ACDP454L, P457LDyskeratosis congenita, autosomal dominant 6Uncertain significance
(Sep 1, 2021)
criteria provided, single submitter
20.
GRCh37:
Chr16:67691515
GRCh38:
Chr16:67657612
ACDDyskeratosis congenita, autosomal dominant 6, not provided, not specified
Benign
(Aug 15, 2023)
criteria provided, multiple submitters, no conflicts
21.
GRCh37:
Chr16:67691516
GRCh38:
Chr16:67657613
ACDP457R, P454R, P428RInborn genetic diseasesUncertain significance
(Nov 22, 2021)
criteria provided, single submitter
22.
GRCh37:
Chr16:67691516
GRCh38:
Chr16:67657613
ACDP454L, P457Lnot specified, Dyskeratosis congenita, autosomal dominant 6, Inborn genetic diseases
Uncertain significance
(Aug 19, 2022)
criteria provided, multiple submitters, no conflicts
23.
GRCh37:
Chr16:67691517
GRCh38:
Chr16:67657614
ACDP454T, P457T, P428TDyskeratosis congenita, autosomal dominant 6Uncertain significance
(May 4, 2022)
criteria provided, single submitter
24.
GRCh37:
Chr16:67691517
GRCh38:
Chr16:67657614
ACDP428A, P457A, P454AInborn genetic diseasesUncertain significance
(Mar 8, 2022)
criteria provided, single submitter
25.
GRCh37:
Chr16:67691519
GRCh38:
Chr16:67657616
ACDT427I, T453I, T456IInborn genetic diseasesUncertain significance
(Jun 5, 2022)
criteria provided, single submitter
26.
GRCh37:
Chr16:67691519-67691522
GRCh38:
Chr16:67657616-67657619
ACDP452fs, P455fsInborn genetic diseases, Dyskeratosis congenita, autosomal dominant 6Uncertain significance
(Mar 24, 2023)
criteria provided, multiple submitters, no conflicts
27.
GRCh37:
Chr16:67691523
GRCh38:
Chr16:67657620
ACDP455S, P452S, P426SDyskeratosis congenita, autosomal dominant 6Uncertain significance
(Mar 28, 2022)
criteria provided, single submitter
28.
GRCh37:
Chr16:67691529
GRCh38:
Chr16:67657626
ACDS450A, S424A, S453AInborn genetic diseasesUncertain significance
(Dec 24, 2022)
criteria provided, single submitter
29.
GRCh37:
Chr16:67691530
GRCh38:
Chr16:67657627
ACDInborn genetic diseases, Dyskeratosis congenita, autosomal dominant 6Likely benign
(Apr 11, 2023)
criteria provided, multiple submitters, no conflicts
30.
GRCh37:
Chr16:67691531
GRCh38:
Chr16:67657628
ACDG452E, G423E, G449EInborn genetic diseasesLikely benign
(Feb 3, 2023)
criteria provided, single submitter
31.
GRCh37:
Chr16:67691531
GRCh38:
Chr16:67657628
ACDG449V, G423V, G452VInborn genetic diseasesUncertain significance
(Mar 24, 2022)
criteria provided, single submitter
32.
GRCh37:
Chr16:67691532
GRCh38:
Chr16:67657629
ACDG423R, G449R, G452RInborn genetic diseasesUncertain significance
(Jul 18, 2021)
criteria provided, single submitter
33.
GRCh37:
Chr16:67691535
GRCh38:
Chr16:67657632
ACDP422S, P448S, P451SInborn genetic diseasesUncertain significance
(Apr 7, 2023)
criteria provided, single submitter
34.
GRCh37:
Chr16:67691539
GRCh38:
Chr16:67657636
ACDInborn genetic diseasesLikely benign
(Jun 18, 2021)
criteria provided, single submitter
35.
GRCh37:
Chr16:67691542
GRCh38:
Chr16:67657639
ACDInborn genetic diseasesLikely benign
(Jan 18, 2022)
criteria provided, single submitter
36.
GRCh37:
Chr16:67691544
GRCh38:
Chr16:67657641
ACDD419N, D445N, D448NDyskeratosis congenita, autosomal dominant 6, Inborn genetic diseasesUncertain significance
(Nov 6, 2022)
criteria provided, multiple submitters, no conflicts
37.
GRCh37:
Chr16:67691546
GRCh38:
Chr16:67657643
ACDM444T, M418T, M447TInborn genetic diseasesUncertain significance
(Sep 20, 2022)
criteria provided, single submitter
38.
GRCh37:
Chr16:67691547
GRCh38:
Chr16:67657644
ACDM444L, M418L, M447LInborn genetic diseasesUncertain significance
(Nov 20, 2022)
criteria provided, single submitter
39.
GRCh37:
Chr16:67691550
GRCh38:
Chr16:67657647
ACDInborn genetic diseases, Dyskeratosis congenita, autosomal dominant 6, not specified
Benign/Likely benign
(Nov 3, 2022)
criteria provided, multiple submitters, no conflicts
40.
GRCh37:
Chr16:67691552
GRCh38:
Chr16:67657649
ACDF442S, F445SDyskeratosis congenita, autosomal dominant 6Uncertain significance
(Sep 13, 2022)
criteria provided, single submitter
41.
GRCh37:
Chr16:67691553
GRCh38:
Chr16:67657650
ACDF445L, F416L, F442LInborn genetic diseases, Dyskeratosis congenita, autosomal dominant 6Uncertain significance
(Jul 26, 2022)
criteria provided, multiple submitters, no conflicts
42.
GRCh37:
Chr16:67691554
GRCh38:
Chr16:67657651
ACDInborn genetic diseasesLikely benign
(Jan 27, 2022)
criteria provided, single submitter
43.
GRCh37:
Chr16:67691555
GRCh38:
Chr16:67657652
ACDH415P, H444P, H441PInborn genetic diseasesUncertain significance
(Feb 12, 2022)
criteria provided, single submitter
44.
GRCh37:
Chr16:67691556
GRCh38:
Chr16:67657653
ACDH415N, H441N, H444NInborn genetic diseasesUncertain significance
(May 28, 2023)
criteria provided, single submitter
45.
GRCh37:
Chr16:67691556
GRCh38:
Chr16:67657653
ACDH444Y, H441Y, H415YInborn genetic diseasesUncertain significance
(Feb 5, 2023)
criteria provided, single submitter
46.
GRCh37:
Chr16:67691566
GRCh38:
Chr16:67657663
ACDInborn genetic diseases, Dyskeratosis congenita, autosomal dominant 6Likely benign
(Jul 19, 2022)
criteria provided, multiple submitters, no conflicts
47.
GRCh37:
Chr16:67691568
GRCh38:
Chr16:67657665
ACDA411T, A440T, A437TInborn genetic diseasesUncertain significance
(Feb 12, 2023)
criteria provided, single submitter
48.
GRCh37:
Chr16:67691570
GRCh38:
Chr16:67657667
ACDM436T, M439T, M410TInborn genetic diseasesUncertain significance
(Jul 24, 2021)
criteria provided, single submitter
49.
GRCh37:
Chr16:67691571
GRCh38:
Chr16:67657668
ACDM439V, M410V, M436VInborn genetic diseasesLikely benign
(Jan 21, 2022)
criteria provided, single submitter
50.
GRCh37:
Chr16:67691572
GRCh38:
Chr16:67657669
ACDDyskeratosis congenita, autosomal dominant 6, Inborn genetic diseasesLikely benign
(Oct 18, 2022)
criteria provided, multiple submitters, no conflicts
51.
GRCh37:
Chr16:67691576
GRCh38:
Chr16:67657673
ACDQ408R, Q434R, Q437RInborn genetic diseasesUncertain significance
(Feb 27, 2023)
criteria provided, single submitter
52.
GRCh37:
Chr16:67691578
GRCh38:
Chr16:67657675
ACDInborn genetic diseasesLikely benign
(Oct 8, 2022)
criteria provided, single submitter
53.
GRCh37:
Chr16:67691580
GRCh38:
Chr16:67657677
ACDP436S, P433SDyskeratosis congenita, autosomal dominant 6Uncertain significance
(Sep 1, 2021)
criteria provided, single submitter
54.
GRCh37:
Chr16:67691587
GRCh38:
Chr16:67657684
ACDR430S, R404S, R433SInborn genetic diseasesUncertain significance
(Aug 22, 2022)
criteria provided, single submitter
55.
GRCh37:
Chr16:67691587
GRCh38:
Chr16:67657684
ACDInborn genetic diseases, Dyskeratosis congenita, autosomal dominant 6Conflicting interpretations of pathogenicity
(Jul 1, 2022)
criteria provided, conflicting interpretations
56.
GRCh37:
Chr16:67691591
GRCh38:
Chr16:67657688
ACDDyskeratosis congenita, autosomal dominant 6Likely benign
(Mar 26, 2021)
criteria provided, single submitter
57.
GRCh37:
Chr16:67691601
GRCh38:
Chr16:67657698
ACDDyskeratosis congenita, autosomal dominant 6Likely benign
(Aug 15, 2022)
criteria provided, single submitter
58.
GRCh37:
Chr16:67691603
GRCh38:
Chr16:67657700
ACDDyskeratosis congenita, autosomal dominant 6Likely benign
(Sep 1, 2022)
criteria provided, single submitter
59.
GRCh37:
Chr16:67691645
GRCh38:
Chr16:67657742
ACDDyskeratosis congenita, autosomal dominant 6, not providedBenign
(Nov 4, 2022)
criteria provided, multiple submitters, no conflicts
60.
GRCh37:
Chr16:67691656
GRCh38:
Chr16:67657753
ACDDyskeratosis congenita, autosomal dominant 6Likely benign
(Nov 7, 2021)
criteria provided, single submitter
61.
GRCh37:
Chr16:67691664
GRCh38:
Chr16:67657761
ACDDyskeratosis congenita, autosomal dominant 6Uncertain significance
(Aug 15, 2021)
criteria provided, single submitter
62.
GRCh37:
Chr16:67691666
GRCh38:
Chr16:67657763
ACDR404W, R430W, R433WInborn genetic diseasesUncertain significance
(Sep 30, 2021)
criteria provided, single submitter
63.
GRCh37:
Chr16:67691666
GRCh38:
Chr16:67657763
ACDDyskeratosis congenita, autosomal dominant 6Uncertain significance
(Sep 30, 2021)
criteria provided, single submitter
64.
GRCh37:
Chr16:67691668
GRCh38:
Chr16:67657765
ACDV429A, V432ADyskeratosis congenita, autosomal dominant 6, not providedBenign
(Nov 4, 2022)
criteria provided, multiple submitters, no conflicts
65.
GRCh37:
Chr16:67691670
GRCh38:
Chr16:67657767
ACDDyskeratosis congenita, autosomal dominant 6Likely benign
(Jan 21, 2020)
criteria provided, single submitter
66.
GRCh37:
Chr16:67691671
GRCh38:
Chr16:67657768
ACDA431V, A402V, A428VInborn genetic diseasesUncertain significance
(Aug 27, 2021)
criteria provided, single submitter
67.
GRCh37:
Chr16:67691674
GRCh38:
Chr16:67657771
ACDQ430R, Q427R, Q401RDyskeratosis congenita, autosomal dominant 6Uncertain significance
(Aug 3, 2022)
criteria provided, single submitter
68.
GRCh37:
Chr16:67691676
GRCh38:
Chr16:67657773
ACDInborn genetic diseasesLikely benign
(Jan 22, 2020)
criteria provided, single submitter
69.
GRCh37:
Chr16:67691679
GRCh38:
Chr16:67657776
ACDInborn genetic diseasesLikely benign
(May 21, 2021)
criteria provided, single submitter
70.
GRCh37:
Chr16:67691680
GRCh38:
Chr16:67657777
ACDR425Q, R428QInborn genetic diseases, Dyskeratosis congenita, autosomal dominant 6Conflicting interpretations of pathogenicity
(Jul 26, 2022)
criteria provided, conflicting interpretations
71.
GRCh37:
Chr16:67691681
GRCh38:
Chr16:67657778
ACDR425W, R428WDyskeratosis congenita, autosomal dominant 6, Inborn genetic diseasesUncertain significance
(Oct 31, 2021)
criteria provided, multiple submitters, no conflicts
72.
GRCh37:
Chr16:67691682
GRCh38:
Chr16:67657779
ACDInborn genetic diseasesLikely benign
(Jul 29, 2022)
criteria provided, single submitter
73.
GRCh37:
Chr16:67691683
GRCh38:
Chr16:67657780
ACDA424V, A427V, A398VInborn genetic diseases, Dyskeratosis congenita, autosomal dominant 6Uncertain significance
(Jun 1, 2023)
criteria provided, multiple submitters, no conflicts
74.
GRCh37:
Chr16:67691686
GRCh38:
Chr16:67657783
ACDC397Y, C426Y, C423YInborn genetic diseasesUncertain significance
(Jul 16, 2021)
criteria provided, single submitter
75.
GRCh37:
Chr16:67691690
GRCh38:
Chr16:67657787
ACDL396F, L422F, L425FInborn genetic diseasesUncertain significance
(Sep 10, 2021)
criteria provided, single submitter
76.
GRCh37:
Chr16:67691690
GRCh38:
Chr16:67657787
ACDL396V, L422V, L425VInborn genetic diseasesUncertain significance
(Dec 25, 2021)
criteria provided, single submitter
77.
GRCh37:
Chr16:67691692
GRCh38:
Chr16:67657789
ACDS395F, S421F, S424FInborn genetic diseasesUncertain significance
(Sep 1, 2021)
criteria provided, single submitter
78.
GRCh37:
Chr16:67691694
GRCh38:
Chr16:67657791
ACDInborn genetic diseases, Dyskeratosis congenita, autosomal dominant 6Likely benign
(Oct 4, 2022)
criteria provided, multiple submitters, no conflicts
79.
GRCh37:
Chr16:67691695
GRCh38:
Chr16:67657792
ACDT420M, T423Mnot specified, Inborn genetic diseases, Dyskeratosis congenita, autosomal dominant 6
Uncertain significance
(Aug 15, 2023)
criteria provided, multiple submitters, no conflicts
80.
GRCh37:
Chr16:67691697
GRCh38:
Chr16:67657794
ACDC419W, C393W, C422WInborn genetic diseasesUncertain significance
(Apr 24, 2022)
criteria provided, single submitter
81.
GRCh37:
Chr16:67691699
GRCh38:
Chr16:67657796
ACDC422R, C393R, C419RInborn genetic diseasesUncertain significance
(Sep 4, 2021)
criteria provided, single submitter
82.
GRCh37:
Chr16:67691701
GRCh38:
Chr16:67657798
ACDP421R, P418RDyskeratosis congenita, autosomal dominant 6Uncertain significance
(Sep 17, 2021)
criteria provided, single submitter
83.
GRCh37:
Chr16:67691701
GRCh38:
Chr16:67657798
ACDP418L, P421LDyskeratosis congenita, autosomal dominant 6Uncertain significance
(Aug 28, 2021)
criteria provided, single submitter
84.
GRCh37:
Chr16:67691703
GRCh38:
Chr16:67657800
ACDInborn genetic diseasesLikely benign
(Jun 17, 2020)
criteria provided, single submitter
85.
GRCh37:
Chr16:67691704
GRCh38:
Chr16:67657801
ACDP391L, P417L, P420LInborn genetic diseasesUncertain significance
(Feb 13, 2022)
criteria provided, single submitter
86.
GRCh37:
Chr16:67691704
GRCh38:
Chr16:67657801
ACDP391R, P417R, P420RInborn genetic diseases, Dyskeratosis congenita, autosomal dominant 6Uncertain significance
(Sep 1, 2022)
criteria provided, multiple submitters, no conflicts
87.
GRCh37:
Chr16:67691706
GRCh38:
Chr16:67657803
ACDInborn genetic diseasesLikely benign
(Oct 12, 2022)
criteria provided, single submitter
88.
GRCh37:
Chr16:67691711
GRCh38:
Chr16:67657808
ACDY415N, Y418NDyskeratosis congenita, autosomal dominant 6Uncertain significance
(Aug 26, 2021)
criteria provided, single submitter
89.
GRCh37:
Chr16:67691716
GRCh38:
Chr16:67657813
ACDY416C, Y413CInborn genetic diseases, Dyskeratosis congenita, autosomal dominant 6Uncertain significance
(Apr 4, 2022)
criteria provided, multiple submitters, no conflicts
90.
GRCh37:
Chr16:67691717
GRCh38:
Chr16:67657814
ACDY387H, Y413H, Y416HInborn genetic diseasesUncertain significance
(May 6, 2023)
criteria provided, single submitter
91.
GRCh37:
Chr16:67691724
GRCh38:
Chr16:67657821
ACDInborn genetic diseasesLikely benign
(Oct 7, 2019)
criteria provided, single submitter
92.
GRCh37:
Chr16:67691725
GRCh38:
Chr16:67657822
ACDA413V, A410VDyskeratosis congenita, autosomal dominant 6Uncertain significance
(Jan 3, 2022)
criteria provided, single submitter
93.
GRCh37:
Chr16:67691726
GRCh38:
Chr16:67657823
ACDA413T, A410T, A384TInborn genetic diseasesUncertain significance
(Dec 15, 2021)
criteria provided, single submitter
94.
GRCh37:
Chr16:67691726
GRCh38:
Chr16:67657823
ACDA410S, A413SInborn genetic diseases, Dyskeratosis congenita, autosomal dominant 6Uncertain significance
(Nov 2, 2021)
criteria provided, multiple submitters, no conflicts
95.
GRCh37:
Chr16:67691730
GRCh38:
Chr16:67657827
ACDInborn genetic diseasesLikely benign
(Apr 25, 2023)
criteria provided, single submitter
96.
GRCh37:
Chr16:67691731
GRCh38:
Chr16:67657828
ACDG382V, G408V, G411VInborn genetic diseasesUncertain significance
(Feb 23, 2022)
criteria provided, single submitter
97.
GRCh37:
Chr16:67691732
GRCh38:
Chr16:67657829
ACDG382R, G408R, G411RInborn genetic diseasesUncertain significance
(Nov 4, 2021)
criteria provided, single submitter
98.
GRCh37:
Chr16:67691737
GRCh38:
Chr16:67657834
ACDR409H, R406HInborn genetic diseases, not specified, Dyskeratosis congenita, autosomal dominant 6
Uncertain significance
(Aug 15, 2023)
criteria provided, multiple submitters, no conflicts
99.
GRCh37:
Chr16:67691738
GRCh38:
Chr16:67657835
ACDR406C, R409C, R380CInborn genetic diseasesUncertain significance
(Dec 15, 2021)
criteria provided, single submitter
100.
GRCh37:
Chr16:67691739
GRCh38:
Chr16:67657836
ACDH408Q, H379Q, H405QDyskeratosis congenita, autosomal dominant 6Uncertain significance
(Feb 3, 2022)
criteria provided, single submitter
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