| - GRCh37:
- Chr16:52933095-90155062
- GRCh38:
- Chr16:52899183-90088654
| MIR6775, LOC112469016, USB1, LOC121587562, SETD6, FTO-IT1, LOC121587546, ADGRG3, MT1B, LINC02141, LOC112449717, LOC121587553, LOC121587563, GAS8-AS1, LINC02138, PSMD7-DT, CHTF8, ZFHX3, LOC100289580, BEAN1-AS1, KIFC3, CDT1, GAN, LOC105943583, DYNLRB2, LOC110120571, LOC111429607, CPHXL2, LOC110120580, CMTM1, MAF, SNAI3-AS1, LOC112486218, FHOD1, LINC01227, PHLPP2, LOC112469012, ELMO3, NUP93-DT, LINC02181, CDK10, VAC14, LOC101927480, LOC121848001, ACD, LOC105371267, LOC388282, SNAI3, LINC00922, MLKL, LOC100129215, SNORD13H, ADAT1, ACSF3, ZNF469, TRG-GCC2-4, CHST6, LINC01082, MT1H, LOC112469006, LOC121847997, TMEM208, ADAD2, LOC121847990, PDPR, ZCCHC14-DT, CDH13-AS2, PDF, IL17C, PLEKHG4, DPEP3, LOC101928708, TRADD, DYNC1LI2-DT, DERPC, LOC339059, CDH15, PKD1L2, NOB1, SNORD111B, LINC00311, LOC110121410, CMC2, C16orf47, HAS3, THAP11, LOC654780, MEAK7, LPCAT2, PSMD7, LOC121587559, MVD, CMTM4, SNORA50A, NUDT7, APRT, MT1G, LOC112486207, DDX28, CENPN, LOC121587565, IRX3, DHODH, CRISPLD2, MTSS2, CLEC18A, HSBP1, CTRL, LINC02131, SPATA2L, CHD9, TRG-GCC3-1, SLC9A5, DBNDD1, LRRC36, LOC121587567, OGFOD1, NUDT21, NLRC5, CTU2, SLC38A8, HPR, RRAD, LOC121848000, CMTM3, TERF2IP, LINC02136, ARLNC1, LOC112486213, CX3CL1, LOC121847994, WWOX, FOXC2, PSMB10, LOC110120839, LOC112469015, IL34, CALB2, DHX38, USP10, LOC100129617, AKTIP, DPEP2, GALNS, LOC121847995, LOC110121468, FOXF1, GFOD2, TANGO6, ST3GAL2, LINC02137, LOC121587554, GNAO1-AS1, MIR3935, LOC112486204, PDP2, LDHD, BEAN1, MIR11401, MAP1LC3B, LOC112486215, PLLP, CYBA, LOC110120824, LOC121847999, EDC4, TXNL4B, CES3, CCL17, LOC112486203, LOC121587561, ZNF276, AP1G1, CENPBD1, LOC101928417, ADGRG5, ARL2BP, IRF8, LOC110120838, LOC112469014, LOC110120569, LOC112486201, MIR6774, AGRP, MT1X, ZFPM1, CDH11, CES1, LINC02182, DDX19A-DT, BBS2, LOC121847991, SLC7A6, MMP2, LOC116276453, TRL-CAG2-2, DDX19B, SF3B3, HERPUD1, NFAT5, LOC121847998, GCSH, BANP, CTCF-DT, FBXO31, IRX5, HSD17B2, ATP6V0D1-DT, LOC110120576, ATXN1L, TAT, TMEM170A, LOC100287036, TMED6, ZNF19, LOC112486223, LINC00304, LOC112486212, LOC110121436, MMP15, VPS9D1-AS1, ZFHX3-AS1, KIAA0513, CKLF-CMTM1, LOC112486210, PSME3IP1, NQO1, DYNC1LI2, HSDL1, SLC7A6OS, LOC112486205, SLC12A3, BCO1, LOC110120578, C16orf86, PHAF1, ZFP90, FOXL1, B3GNT9, CA7, PLA2G15, LOC112469007, LOC121587558, LOC112486206, LOC110120835, NDRG4, MT1F, KCNG4, LOC110120581, DEF8, JPH3, LOC112486217, LINC01572, LOC110120572, SMPD3, HSD11B2, LOC112486221, CDH13, LOC121847993, LOC111365156, CBFB, LINC00920, PLCG2, C16orf74, DDX19A, SNTB2, MIR1538, DUXB, HSD17B2-AS1, MATCAP1, RBL2, SDR42E1, LINC02139, CFDP1, CAPNS2, LOC112469003, MARVELD3, GAS8, LOC101928446, SNORA70D, FBXL8, NIP7, LINC02125, LOC100506281, LINC01081, ATP6V0D1, LOC102723373, HSF4, MIR6504, LOC112486214, CRNDE, LINC01229, NPIPB15, LOC108251797, NUP93, LINC01568, LOC121847996, TEPP, LRRC29, SLC38A7, FCSK, HP, LOC110120573, EXOSC6, TERF2, LOC101927793, LOC105371414, RPGRIP1L, LOC110120577, LOC101928557, LOC121587548, CDH13-AS1, TRL-CAG2-1, CDH3, CDH5, LOC112486208, MON1B, LINC00917, COQ9, TRG-GCC2-5, SNORA119, ENKD1, SNORA46, C16orf95, EMC8, IRX6, RIPOR1, AMFR, LOC112486220, LOC112469010, CSNK2A2, DUS2, MIR4722, ZNF319, RFWD3, CMTM2, LOC109029536, ADGRG1, AARS1, KLHDC4, LOC111413029, ZDHHC1, LINC02126, MIR5189, RANBP10, CBFA2T3, TAF1C, LOC112469011, LINC02135, MMP2-AS1, MIR138-2, NRN1L, FANCA, COG4, VPS9D1, SNORD68, MC1R, RNF166, TRAPPC2L, SPIRE2, GINS3, WWP2, GOT2, KARS1, CIAO2B, DYNLRB2-AS1, TRM-CAT2-1, CMTR2, C16orf95-DT, WWOX-AS1, TAT-AS1, LINC02189, SNORD71, DNAAF1, LOC112486216, MT3, MIR7854, NOL3, VAT1L, ZC3H18, KATNB1, PARD6A, LOC121847988, LOC101927817, LOC105371335, LOC113939956, FOXC2-AS1, ZCCHC14, ESRP2, LOC111556152, TRM-CAT6-1, HCCAT5, CMIP, MIR12128, LOC110120579, RPL13, POLR2C, TSNAXIP1, ZFP1, CES4A, LOC110120574, SPATA33, CKLF, IST1, DPEP2NB, WFDC1, LOC112469009, LOC121587560, MPHOSPH6, CLEC18B, COTL1, DPEP1, CCDC102A, MAFTRR, BCAR1, LOC111365213, CCL22, COX4I1, PMFBP1, LOC110120570, ATP2C2-AS1, LOC112486211, MIR4719, NAE1, CDH16, LOC121587552, MIR3182, CIAPIN1, MIR6773, SLC22A31, MIR6863, MT1E, NECAB2, MIR1910, CNGB1, GSE1, LOC112486222, MT2A, LOC400541, E2F4, MT1A, LOC121587550, MT4, ANKRD11, ZNF821, LOC105376772, CFAP20, PABPN1L, TUBB3, LOC112449716, EXOC3L1, ZDHHC7, NQO1-DT, LOC108281164, SLC7A5, ADAMTS18, TRK-TTT1-1, LOC110120837, LOC110121443, CA5A, NUTF2, PRDM7, LOC121587549, LOC121587551, CPNE7, ZNRF1, CTCF, LOC121587566, NFATC3, TERB1, CTRB2, DOK4, MIR6772, LOC108254672, ZNF778, VPS4A, LOC121587547, KCTD19, CLEC3A, TRG-GCC5-1, GNAO1, CDH1, SLC6A2, FENDRR, PRSS54, CPHXL, LOC112486219, MIR328, CYB5B, GLG1, LINC02140, LOC121847992, TCF25, CLEC18C, PKD1L3, FA2H, PSKH1, ZFPM1-AS1, LOC102724467, HYDIN, LOC100505942, LOC112469008, CHST5, SPG7, SNORD111, LINC02188, LOC112486209, LOC112469004, CPNE2, CHMP1A, CDYL2, MIR4720, CNOT1, CTRB1, TLE7, CENPT, UTP4, TMEM231, LOC112469013, LOC112486227, LINC02169, MLYCD, FTO, ZNF23, SLC12A4, KLHL36, PIEZO1, CNTNAP4, MBTPS1, LINC01228, LOC111413011, ATP2C2, WDR59, PRMT7, SYCE1L, MIR5093, CCDC113, LOC110121356, LINC02166, LOC107984862, LOC121587557, LOC121847989, VAC14-AS1, GNAO1-DT, GABARAPL2, GINS2, MIR1972-2, ATMIN, CETP, CIBAR2, LOC112469005, CARMIL2, CES2, C16orf46, LOC121587555, COG8, OSGIN1, MIR140, MT1M, LOC110120575, TK2, FRA16B, FLJ30679, CHST4, CDH8, CES5A, LCAT, MTHFSD, LOC100129697, LOC105371328, LOC110121411, LOC121587564, LOC101928682, LOC121587556, MIR8058, LOC110121450, RSPRY1, LOC400553, ZC3H18-AS1, LOC112486202, TPPP3, DRC7, LINC02176 | | See cases | Pathogenic (Sep 27, 2013) | no assertion criteria provided |
| - GRCh37:
- Chr16:56917504-71313878
- GRCh38:
- Chr16:56883592-71279975
| LOC100505942, 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, LOC388282, LOC400541, LRRC29, LRRC36, 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, ST3GAL2, TANGO6, TEPP, 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, AARS1, ATP6V0D1, ACD, ADGRG1, ADGRG3, ADGRG5, AGRP, ARL2BP, ATP6V0D1-DT, B3GNT9, BEAN1, BEAN1-AS1, C16orf86, CA7, CARMIL2, CBFB, CCDC102A, CCDC113, CCL17, CCL22, CENPT, CDH1, CDH11, CDH16, CDH3, CDH5, CDH8, 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, KIAA0895L, KIFC3, LCAT, LINC00920, LINC00922, LINC02126, LINC02137, LINC02141 | | See cases | Pathogenic (Aug 12, 2011) | criteria provided, single submitter |
| - GRCh37:
- Chr16:58490026-74742621
- GRCh38:
- Chr16:58456122-74708723
| AARS1, ACD, AGRP, AP1G1, ATP6V0D1, ATP6V0D1-DT, ATXN1L, B3GNT9, 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, KIAA0895L, LCAT, LINC00920, LINC00922, LINC01568, LINC01572, LINC02126, LINC02136, LINC02137, LINC02141, LOC100505942, 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, LOC400541, LRRC29, LRRC36, MARVELD3, 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 | | See cases | Pathogenic (Aug 12, 2011) | criteria provided, single submitter |
| - GRCh37:
- Chr16:62959833-84619401
- GRCh38:
- Chr16:62925929-84585795
| PSMD7, DHX38, DHODH, TERB1, DYNC1LI2-DT, LOC112486206, TMEM208, BCAR1, LOC100505942, MIR4719, CDH13-AS2, COG8, EXOC3L1, BCO1, LOC112486202, KARS1, EDC4, GLG1, NOL3, CALB2, PKD1L2, MIR6773, DDX28, CDH13-AS1, SNORD111, RANBP10, LOC121847993, PARD6A, MBTPS1, COTL1, HSDL1, GFOD2, MIR4720, CMTM1, LOC121587559, NECAB2, CENPN, LINC02131, CHST5, LOC111365156, LOC112486215, DYNLRB2, LOC105371335, LOC400541, MLKL, MPHOSPH6, TMED6, ZFP90, LOC111365213, LOC121587558, MARVELD3, TMEM231, ZNF19, CA7, LOC110121436, MTSS2, LOC110121410, ADAT1, LOC121587552, PSMD7-DT, KCTD19, SYCE1L, FRA16B, ATMIN, ZNF23, MIR328, CTCF, ATP6V0D1, PHAF1, HYDIN, LOC110121443, WWOX-AS1, LOC112469016, LOC110120573, MIR1972-2, ATXN1L, ESRP2, CES2, NQO1, LOC121587553, LOC110120571, LOC105376772, SF3B3, TSNAXIP1, CHST4, MIR140, TERF2, E2F4, LOC112486208, LOC113939956, MIR7854, ARLNC1, CES3, GABARAPL2, CMC2, DPEP2, LOC121587555, CLEC18A, ELMO3, VAC14-AS1, HAS3, NAE1, EXOSC6, LOC121587554, LOC112486204, LINC01568, TERF2IP, VPS4A, MON1B, ZNRF1, SNORD13H, NUTF2, WFDC1, BEAN1-AS1, ZFHX3-AS1, LOC111413029, CLEC18B, ZNF821, LINC00922, LDHD, HSF4, CTRB1, IL34, LOC100129617, LRRC36, AARS1, LOC100506281, CPHXL, FBXL8, LOC121587550, HSBP1, TAT-AS1, LOC105371328, PDPR, LINC01229, LOC108251797, MAFTRR, TRG-GCC5-1, GAN, PDF, LOC112486211, TXNL4B, WWOX, SNORD71, CBFB, TRG-GCC2-5, ATP6V0D1-DT, CARMIL2, TPPP3, TRADD, CIAO2B, FHOD1, B3GNT9, DDX19A, CHTF8, PMFBP1, WDR59, LOC101928446, DUS2, TLE7, RIPOR1, MEAK7, LOC112486213, CTCF-DT, CKLF, RRAD, LOC110120570, GCSH, LINC01572, PRMT7, CDH11, CYB5B, LOC101928417, ACD, LOC112486210, TMEM170A, COG4, LRRC29, AP1G1, PKD1L3, LOC112486205, LOC121587564, SLC9A5, NOB1, CMTM4, PSKH1, BEAN1, CDH5, RFWD3, LOC121587557, LOC121587565, LOC654780, HP, ATP2C2-AS1, SNORA70D, CTRL, LOC121847990, LOC121847994, NQO1-DT, MIR6504, CDH3, MLYCD, DYNLRB2-AS1, NFAT5, CMTM3, LINC02126, DPEP3, SMPD3, ZFP1, C16orf86, LOC110120824, ZFHX3, SNORD111B, TANGO6, MIR8058, HSD11B2, LOC111429607, CDH16, TRM-CAT2-1, DUXB, WWP2, FCSK, KCNG4, LOC121587561, LOC121587556, ATP2C2, LOC121587549, TRG-GCC3-1, OSGIN1, CENPT, LINC01228, LOC111556152, MAF, CMTR2, LOC110120572, ZDHHC1, CPHXL2, THAP11, LOC112486201, CMTM2, IST1, ADAD2, NRN1L, PSMB10, ST3GAL2, LOC110121468, LOC112486209, DNAAF1, DDX19A-DT, C16orf47, LINC02125, DYNC1LI2, LOC112486203, PHLPP2, LOC121847992, DDX19B, CMIP, AGRP, HSD17B2, LOC121587560, CKLF-CMTM1, ADAMTS18, CDH1, TAT, VAT1L, LOC112486212, MATCAP1, FA2H, PLCG2, DPEP2NB, SNTB2, LINC02136, CLEC18C, MIR3182, TRK-TTT1-1, CNTNAP4, HCCAT5, CES4A, NFATC3, PDP2, LOC112486214, NIP7, HSD17B2-AS1, MIR1538, LINC01227, LOC121587551, PLEKHG4, TRG-GCC2-4, TK2, DERPC, VAC14, UTP4, SLC7A6, TAF1C, LCAT, LOC121587562, CHST6, SLC38A8, CTRB2, LOC121587563, C16orf46, CDH13, CFDP1, CLEC3A, LOC110120569, ENKD1, NUDT7, SDR42E1, SLC12A4, LINC00920, PLA2G15, LOC121847991, CDYL2, HPR, LOC108254672, LOC112486207, NPIPB15, SLC7A6OS | | See cases | Pathogenic (Oct 20, 2010) | no assertion criteria provided |
| - GRCh37:
- Chr16:64423281-90148393
- GRCh38:
- Chr16:64389378-90081985
| ZFHX3, NQO1-DT, LOC100287036, ADAT1, ACSF3, LINC02139, BANP, FBXL8, LOC121847999, CTU2, TUBB3, TRAPPC2L, MIR6774, LOC110120571, DPEP3, CIAO2B, CPNE7, ADAMTS18, NIP7, MTSS2, GAS8-AS1, LOC105371328, CARMIL2, ATXN1L, COG8, VPS9D1, KCNG4, ZDHHC7, HYDIN, BCAR1, LOC121587566, CLEC3A, RNF166, MIR4722, CTCF-DT, LOC112486213, LOC121587556, LOC121847993, CLEC18C, MIR328, TAF1C, ATMIN, SDR42E1, EXOSC6, DDX19A, PKD1L2, FOXF1, B3GNT9, HSBP1, DYNLRB2-AS1, ELMO3, HSDL1, OSGIN1, GABARAPL2, MIR1538, CTRL, LOC112486218, TLE7, CBFB, MAP1LC3B, LOC121587561, MAFTRR, CDT1, GAN, PKD1L3, LOC110121411, LOC111556152, LOC112486207, PHLPP2, CMTM4, LOC100129617, LOC101928446, CDH15, ACD, NOB1, TPPP3, MIR1972-2, RIPOR1, KLHDC4, SPIRE2, MIR6773, MIR4720, TRM-CAT2-1, LINC02125, PLEKHG4, LDHD, PRMT7, CRISPLD2, HSD17B2, MON1B, PDF, SLC38A8, HCCAT5, CHTF8, NECAB2, LOC111413011, TRG-GCC2-5, LINC01082, MAF, UTP4, ZFPM1-AS1, LOC112486209, LOC121848000, ZDHHC1, DPEP2NB, LOC400553, ATP2C2, MIR5189, BEAN1, SNAI3, FA2H, CBFA2T3, LOC110120570, SNAI3-AS1, LOC110120824, LINC00304, DHODH, LOC112486217, DNAAF1, LOC112486219, CYBA, MIR12128, COX4I1, LOC121587563, CIBAR2, LINC02135, CDH13, LOC109029536, LINC01081, FOXL1, LOC111365156, ZFP1, FLJ30679, THAP11, LOC112486201, DDX19A-DT, LOC121587559, LOC339059, MATCAP1, LOC400541, CA5A, CES2, SF3B3, LOC112486208, WWP2, LOC112469016, PARD6A, GALNS, GCSH, CPHXL, MEAK7, FBXO31, LINC00920, LOC108254672, ZFPM1, NOL3, SNTB2, ZNF469, TXNL4B, MIR6504, CENPN, LOC110121436, LOC121587558, MIR140, FENDRR, MLKL, NPIPB15, LINC02176, LOC112486211, TMEM170A, FANCA, ESRP2, SYCE1L, LOC101928557, CDH16, C16orf86, TRG-GCC5-1, CYB5B, PSKH1, LOC108281164, ZNRF1, FOXC2-AS1, SNORD13H, LINC00922, DUS2, DBNDD1, COTL1, TRADD, LCAT, LOC121587554, HSD17B2-AS1, IL17C, TERF2IP, TMED6, ZC3H18-AS1, PMFBP1, SLC9A5, LOC105376772, FRA16B, PLCG2, CPHXL2, NFATC3, HSF4, ZCCHC14-DT, LINC02131, SLC22A31, EMC8, LOC111429607, LOC112486203, SPATA33, LOC121847990, TRK-TTT1-1, TRM-CAT6-1, LOC112486222, WWOX, LRRC29, ZFP90, CENPBD1, DEF8, CKLF, CES4A, LOC100289580, SNORD111B, LINC02182, SLC7A5, CHST4, MIR11401, LOC100129215, LOC110121450, TAT, NRN1L, CDH13-AS2, RPL13, GLG1, NUDT7, LOC121847997, DYNC1LI2-DT, CMTR2, TSNAXIP1, KCTD19, SLC12A4, HAS3, CHMP1A, VPS4A, CMIP, TMEM231, DPEP2, ZC3H18, ZNF23, SNORA70D, SLC7A6OS, MC1R, TCF25, LINC02138, MVD, LOC121587553, CA7, ATP6V0D1, USP10, PSMD7-DT, PHAF1, ZFHX3-AS1, LOC101927817, LINC01572, DYNC1LI2, CMTM1, LOC105943583, GFOD2, C16orf95-DT, SLC7A6, NFAT5, LOC121587552, C16orf46, TERB1, LINC01568, CHST5, ZNF19, IST1, KLHL36, ST3GAL2, APRT, MIR8058, VAT1L, EXOC3L1, CDH13-AS1, LOC112486221, RANBP10, LOC105371414, BCO1, FCSK, LOC101928417, CFDP1, AGRP, ANKRD11, DDX28, LINC00917, BEAN1-AS1, PRDM7, LOC121587564, LINC02189, CLEC18B, ENKD1, C16orf74, MIR3182, CMTM2, SPG7, LOC112486223, LOC121847991, COG4, CDK10, E2F4, LOC101928682, CDH1, MIR5093, CTCF, IL34, FOXC2, PDPR, KARS1, HSD11B2, DUXB, RRAD, CES3, KIAA0513, LOC121587551, CLEC18A, LINC01229, LOC110121443, LINC02136, ZNF778, MBTPS1, LOC121587557, WDR59, WFDC1, CDYL2, TAT-AS1, LOC121847998, LINC01228, CALB2, LOC105371335, CMTM3, CTRB2, MIR1910, DERPC, LOC121847995, VAC14-AS1, LOC112486215, MLYCD, LOC100506281, LOC108251797, SMPD3, PSMD7, SPATA2L, PIEZO1, TMEM208, ADAD2, LOC121587562, WWOX-AS1, VPS9D1-AS1, LOC110120572, NAE1, ATP2C2-AS1, LOC112486210, CKLF-CMTM1, LOC121587565, LOC100129697, CTRB1, AP1G1, CDH11, LOC116276453, LOC121587560, LOC112486206, LOC121587549, RFWD3, LOC112486220, LOC112486227, PABPN1L, CDH5, LOC110121468, LOC112486214, LOC121848001, TRG-GCC3-1, MIR7854, LOC107984862, LINC02166, LOC121587567, LOC654780, ZNF821, LINC02188, SNORA119, CENPT, LOC112486205, MARVELD3, LOC121587555, PDP2, TK2, CNTNAP4, TRG-GCC2-4, LOC121847992, MPHOSPH6, LOC113939956, LOC112486212, NUTF2, LRRC36, AARS1, LOC111365213, TERF2, LOC110120569, LOC101928708, LOC100505942, LINC02181, LOC101927793, VAC14, HP, LOC111413029, PLA2G15, EDC4, GINS2, LOC110121410, CMC2, SNORD111, MTHFSD, LOC121847994, LOC121847996, LOC112486204, DPEP1, NQO1, DHX38, LOC112486202, LOC112486216, LINC02126, ATP6V0D1-DT, GSE1, LOC110120573, C16orf95, IRF8, SNORD68, MIR4719, DYNLRB2, MIR6775, ZNF276, C16orf47, ARLNC1, PSMB10, GAS8, LINC00311, CDH3, DDX19B, TANGO6, FHOD1, SNORD71, HPR, CHST6, LOC102724467, LINC01227, LOC121587550, ZCCHC14, JPH3 | | See cases | Pathogenic (Dec 22, 2010) | no assertion criteria provided |
| - GRCh37:
- Chr16:65347298-90148393
- GRCh38:
- Chr16:65313395-90081985
| DHX38, LINC02182, LOC121587550, KLHDC4, LOC100287036, CMTM1, KIAA0513, DDX19A-DT, LOC111413029, LINC01081, LOC121847994, LOC101928557, MIR1910, NUTF2, LINC02125, PSMD7, NFATC3, ZNRF1, VPS9D1, IST1, LOC121587549, ELMO3, IL17C, LOC112486222, CDH5, CHST5, MIR5093, LINC02176, RFWD3, NUDT7, LOC121587565, CHST4, AARS1, TUBB3, LOC400553, LINC02131, LOC121587567, CENPN, CENPBD1, LOC121587551, FRA16B, LOC110120573, MIR6504, NPIPB15, TLE7, KARS1, CENPT, LOC121587560, C16orf74, PDPR, C16orf47, LINC02181, LOC121587552, LINC00922, PSMB10, LOC121587563, CDH15, SNORD111, ATP2C2-AS1, LOC111429607, C16orf86, FOXC2-AS1, PRDM7, DYNC1LI2, SPG7, DYNLRB2, TMEM208, MAP1LC3B, LOC108281164, DERPC, WDR59, DNAAF1, SNORD68, LINC00304, ZNF469, DDX19B, LOC110121411, LOC112486209, LOC121847998, JPH3, HYDIN, MTHFSD, CDH16, C16orf95-DT, LOC121587566, NFAT5, PHAF1, CMTM2, TANGO6, CMTM3, RANBP10, ZNF276, MPHOSPH6, GAN, DYNLRB2-AS1, LOC105371328, LOC112486223, IL34, ZDHHC1, COG4, LINC01229, LINC01082, SPIRE2, ZFPM1, SPATA33, LOC121847999, SNTB2, MEAK7, HSF4, CYB5B, PLCG2, CDYL2, CDH3, CES3, LOC110120570, HP, ZFP90, GALNS, FBXL8, CDK10, LOC112486227, LOC121847997, LOC112486216, VAT1L, TRM-CAT2-1, LINC02166, B3GNT9, ADAT1, SYCE1L, LOC100505942, CIAO2B, ENKD1, ZFHX3, DPEP2NB, LINC01227, KCNG4, SLC9A5, MARVELD3, PARD6A, SLC38A8, RNF166, DYNC1LI2-DT, CPHXL, TRG-GCC3-1, CMIP, LOC110121410, LOC110121450, SNAI3, CHST6, FOXL1, LRRC36, TAF1C, CTRB1, CES2, ZC3H18, SMPD3, LOC121587558, CES4A, PSMD7-DT, LRRC29, TCF25, LOC112486213, CBFA2T3, CARMIL2, GFOD2, WWOX-AS1, HSBP1, LINC02136, AGRP, RPL13, SDR42E1, CDH13-AS1, LOC105376772, LINC02138, LOC110120572, ST3GAL2, NIP7, CHMP1A, LINC00920, MIR140, CIBAR2, LOC101927817, LINC00917, LOC112486210, TAT, LOC100129697, TRK-TTT1-1, PIEZO1, CMTR2, CTCF-DT, ATXN1L, KLHL36, LOC112486219, LOC105371335, LOC112486214, MIR3182, LOC100129617, EDC4, LOC101928682, LOC112486201, CDH13, LOC112486207, LOC121587554, ATP2C2, LOC110120824, CRISPLD2, LOC112486212, HAS3, GSE1, LOC121587553, CALB2, DEF8, LOC121587559, CNTNAP4, LOC110121468, HCCAT5, PSKH1, LOC105943583, MIR7854, ADAD2, MIR6775, AP1G1, CBFB, BEAN1, SF3B3, MIR328, E2F4, FA2H, LOC109029536, LOC111365156, PHLPP2, PDF, ZCCHC14-DT, VPS9D1-AS1, DDX19A, DPEP3, SLC12A4, ESRP2, SLC7A6OS, LOC121847995, ATP6V0D1, LOC112486205, LOC121587561, USP10, ZC3H18-AS1, HPR, SLC22A31, MIR8058, RRAD, SLC7A6, ZCCHC14, TERB1, TRM-CAT6-1, LOC101928708, LOC121587564, ZDHHC7, LOC112486221, EXOSC6, MVD, DBNDD1, BANP, SPATA2L, LOC100289580, LINC02188, LOC121587555, MLKL, CKLF, NAE1, CTCF, C16orf46, LDHD, LOC121847990, CFDP1, TPPP3, GLG1, KCTD19, CDH13-AS2, LOC112486218, CHTF8, ACD, TMEM231, CTRB2, WWOX, CDT1, BCO1, DUXB, LOC112486206, CYBA, PLA2G15, SLC7A5, CTU2, SNORA70D, LOC110121436, TSNAXIP1, LINC01572, TERF2, ATMIN, TMED6, SNORD13H, MON1B, MLYCD, TERF2IP, THAP11, C16orf95, LOC107984862, ZNF821, GCSH, DPEP2, TRAPPC2L, CMC2, HSDL1, MATCAP1, TMEM170A, TAT-AS1, LOC100129215, SNAI3-AS1, MIR6773, MIR4720, VPS4A, DDX28, EXOC3L1, LOC339059, MIR6774, LOC654780, LOC121587562, LOC121848000, LOC101928417, GAS8, MBTPS1, LINC01568, LOC121847991, LOC101927793, COX4I1, MIR1538, LOC102724467, LOC121848001, EMC8, PLEKHG4, LINC02139, FBXO31, SNORD71, ZFP1, MAFTRR, LOC112469016, LOC105371414, ATP6V0D1-DT, LOC121847992, NOB1, IRF8, BCAR1, MIR12128, TRADD, ZNF23, HSD11B2, APRT, MIR4722, CPNE7, ACSF3, NECAB2, PDP2, LOC110120569, FHOD1, LOC112486215, MC1R, LINC02135, UTP4, GAS8-AS1, LOC112486208, PKD1L2, FANCA, LOC108251797, GINS2, DHODH, ARLNC1, FCSK, RIPOR1, LOC112486217, NQO1-DT, CLEC18B, LCAT, TXNL4B, LOC112486202, HSD17B2-AS1, DPEP1, CPHXL2, CDH1, CKLF-CMTM1, FLJ30679, LOC111413011, LOC111556152, NOL3, TRG-GCC5-1, SNORA119, LOC121587556, ZFPM1-AS1, LOC113939956, VAC14-AS1, LOC110120571, LOC121847993, OSGIN1, MIR11401, LOC121847996, COG8, LOC101928446, LOC112486203, GABARAPL2, ZFHX3-AS1, COTL1, CLEC18A, ANKRD11, CA5A, SNORD111B, CTRL, PKD1L3, CMTM4, LOC112486204, CLEC3A, PMFBP1, TRG-GCC2-4, LOC100506281, MIR1972-2, LOC121587557, FENDRR, FOXC2, LOC112486211, DUS2, PABPN1L, MIR5189, LOC108254672, LINC01228, WFDC1, BEAN1-AS1, WWP2, LOC110121443, CA7, LINC02189, LOC400541, FOXF1, LINC00311, LOC116276453, VAC14, CLEC18C, ADAMTS18, HSD17B2, NQO1, NRN1L, TRG-GCC2-5, MAF, PRMT7, TK2, ZNF19, MTSS2, MIR4719, LOC111365213, LOC112486220, ZNF778 | | See cases | Pathogenic (Aug 12, 2011) | criteria provided, single submitter |
| - GRCh37:
- Chr16:65545386-90163403
- GRCh38:
- Chr16:65511483-90096995
| TPPP3, PHLPP2, MTSS2, LOC121847990, CDYL2, LINC00920, GLG1, CLEC18B, LOC121587556, MIR6775, LOC121848001, SLC7A5, SNORA119, RFWD3, LINC01082, TSNAXIP1, LOC101928557, CHTF8, LINC00304, LOC121587555, LINC02138, TAF1C, LOC112486227, CES4A, LOC121587557, GFOD2, NIP7, CALB2, LOC121587562, DDX19B, SF3B3, LOC105371414, UTP4, CA7, CBFB, DNAAF1, COG4, PLCG2, NAE1, DPEP1, CDH13-AS2, HSD17B2, LOC121847992, LOC112486204, SLC22A31, LOC121848000, LOC100287036, LOC109029536, LOC111429607, MAF, ELMO3, SNTB2, LOC112486216, LOC121587554, PMFBP1, COTL1, SNAI3, LOC339059, LOC105371335, LOC110120824, DDX28, TRADD, SNORD111B, DPEP2, LOC111556152, NOB1, LOC110121443, LOC121847996, CHST4, CRISPLD2, PSMD7, HSF4, ZNF778, LOC112486201, MIR1538, ZFP90, MIR328, GALNS, DHODH, C16orf74, DDX19A-DT, LOC121587551, LOC101928682, ATP2C2-AS1, LOC121587561, SPIRE2, AGRP, ENKD1, NPIPB15, CENPN, LOC112486210, ADAD2, PLA2G15, KIAA0513, CDK10, MARVELD3, DYNLRB2, LOC110121468, CMTR2, WWOX, FOXC2, TRG-GCC5-1, MIR1972-2, CLEC18A, VAT1L, GAS8-AS1, C16orf46, MBTPS1, LOC121587564, CMTM4, EXOC3L1, LINC02136, ATP2C2, WWP2, C16orf95-DT, CNTNAP4, PABPN1L, ANKRD11, LOC112486211, PKD1L3, CHST5, MLKL, KCNG4, TANGO6, PDF, ST3GAL2, CTRB2, CLEC18C, VAC14-AS1, LOC121587558, C16orf47, MIR6773, HAS3, LOC121587567, LINC00917, LOC110121410, LINC02131, LINC01081, ACSF3, ADAMTS18, LOC121847995, LOC112486202, MPHOSPH6, SNAI3-AS1, ZNF23, DPEP3, NUTF2, LOC121847999, FLJ30679, GINS2, ZFHX3, PRMT7, LOC111365213, LOC121847998, LINC02139, CTCF, CYBA, TK2, TRG-GCC2-5, ZCCHC14, MIR5093, TUBB3, CES3, ATP6V0D1, CHST6, LOC112486205, IRF8, LOC105371328, LOC101928708, LOC100289580, LINC02125, EXOSC6, HYDIN, FBXO31, LOC100129215, DYNLRB2-AS1, TRG-GCC3-1, MIR6774, TAT, PSMB10, CDT1, CES2, LOC112486218, APRT, TERB1, NQO1, AARS1, LOC121587559, TMED6, FENDRR, CPHXL, SLC7A6, CDH15, PDPR, NQO1-DT, CMTM2, PDP2, CDH5, LOC111413029, LOC105376772, LOC112486203, TMEM170A, CDH16, CPNE7, LOC121847991, ATMIN, CMTM1, TLE7, SLC38A8, TCF25, LOC105943583, COX4I1, DYNC1LI2-DT, ZNRF1, LOC112486219, CDH1, EDC4, WFDC1, MATCAP1, HSBP1, SPATA33, LOC100506281, LOC121587549, LOC112486215, CMIP, ZCCHC14-DT, MAFTRR, CTCF-DT, JPH3, HP, SNORA70D, BEAN1-AS1, LOC400541, LOC112486206, RIPOR1, LOC112486222, LOC108254672, ZNF19, BCAR1, LOC111413011, C16orf95, MVD, NOL3, CKLF-CMTM1, SNORD68, HSD17B2-AS1, LOC112486223, RPL13, PLEKHG4, NFAT5, MIR4719, LINC01572, USP10, CARMIL2, LOC112469016, LINC01227, LCAT, SMPD3, SPATA2L, LOC110120572, RNF166, COG8, LINC01228, ATXN1L, FOXL1, RANBP10, DDX19A, GSE1, LOC107984862, B3GNT9, FHOD1, LOC112486208, SLC7A6OS, ACD, LOC112486213, TAT-AS1, CKLF, LRRC36, LOC112486214, TXNL4B, ZNF469, MIR6504, FOXF1, GABARAPL2, TRM-CAT2-1, RRAD, LOC121587566, WDR59, LOC112486209, TRAPPC2L, PKD1L2, LOC121587552, LOC112486217, HCCAT5, AP1G1, ZNF276, LOC121587563, FCSK, ZFPM1-AS1, CDH13-AS1, LINC00922, LOC121587553, PRDM7, DYNC1LI2, LOC101927817, LOC121587560, LOC102724467, SLC12A4, NECAB2, VPS4A, LOC116276453, DEF8, NFATC3, TERF2, VPS9D1-AS1, LOC112486207, TMEM231, NUDT7, GCSH, GAN, NRN1L, LOC108281164, DUS2, LINC01568, LOC101928446, LOC121847997, ZDHHC1, MEAK7, SDR42E1, BANP, CPHXL2, ZC3H18-AS1, C16orf86, TRG-GCC2-4, SYCE1L, FBXL8, LRRC29, MIR140, LINC01229, MLYCD, CLEC3A, ZFHX3-AS1, CIAO2B, WWOX-AS1, LOC110120570, LOC112486220, FA2H, CYB5B, LOC100129697, CBFA2T3, TMEM208, IL34, LOC110121436, SLC9A5, MON1B, DUXB, PARD6A, LINC02181, LINC02176, SPG7, GAS8, LOC110121411, KLHDC4, BEAN1, LOC100505942, E2F4, SNORD71, ZFPM1, PIEZO1, OSGIN1, MIR3182, ESRP2, ATP6V0D1-DT, FANCA, DERPC, DHX38, LDHD, SNORD111, HPR, ARLNC1, MAP1LC3B, MIR7854, LOC100129617, LOC110120569, MTHFSD, THAP11, LOC111365156, LOC121847993, CTU2, MIR11401, EMC8, DBNDD1, CIBAR2, TRM-CAT6-1, LOC101927793, IST1, LOC108251797, LOC112486221, KLHL36, IL17C, CA5A, TRK-TTT1-1, HSD11B2, PHAF1, CHMP1A, PSMD7-DT, ZDHHC7, CTRB1, LINC00311, LOC110120571, LOC121587550, CTRL, ZC3H18, BCO1, CDH13, LOC112486212, LOC400553, MIR4722, MC1R, MIR12128, LOC121847994, LINC02135, VAC14, LOC654780, CDH3, CMC2, DPEP2NB, KARS1, SNORD13H, LOC121587565, VPS9D1, ZNF821, LINC02188, HSDL1, MIR8058, KCTD19, LOC110120573, CFDP1, FOXC2-AS1, LINC02182, ADAT1, CENPT, LOC113939956, CMTM3, TERF2IP, LINC02189, PSKH1, MIR4720, LOC110121450, CENPBD1, MIR5189, LOC101928417, MIR1910, LINC02166, ZFP1 | | See cases | Pathogenic (Jul 2, 2012) | no assertion criteria provided |
| - GRCh37:
- Chr16:65991732-83645048
- GRCh38:
- Chr16:65957829-83611443
| TLE7, ZNF821, TMEM170A, KARS1, CHST4, LOC108254672, SNORD111, RFWD3, LOC111365156, LOC110120571, MIR1972-2, LOC110121468, LINC01227, HAS3, TRADD, ENKD1, CHST6, MARVELD3, VAT1L, DDX19B, LINC01228, CDH13-AS1, MIR4720, CLEC18A, LOC121587553, LOC112486205, PHAF1, LOC121587561, MIR328, C16orf86, MIR3182, MON1B, LOC121587557, LOC100506281, MTSS2, WWOX, NUDT7, GFOD2, WWP2, DUS2, DDX28, LOC112486206, CES3, GAN, B3GNT9, NAE1, CDH3, LOC111429607, LOC112486201, FHOD1, NOB1, LOC121587555, TERF2IP, LOC112486214, CPHXL, LOC110120570, CDH1, E2F4, SLC12A4, ZFHX3, CENPN, TXNL4B, PKD1L2, CA7, PSKH1, CLEC18C, LOC400541, LOC112486209, MPHOSPH6, HYDIN, SDR42E1, C16orf46, LOC121587550, ATP6V0D1-DT, LOC121587558, DDX19A, LOC121587563, DHODH, LOC110121443, MIR6773, MIR8058, DUXB, LINC02131, PSMD7, MLKL, SLC7A6, CYB5B, SYCE1L, LOC111413029, LOC108251797, SLC7A6OS, C16orf47, LOC112486210, AP1G1, LOC121587551, LOC113939956, LOC121587560, NOL3, NFAT5, MIR4719, MIR7854, NUTF2, KCTD19, TMEM231, LOC112486204, CENPT, NPIPB15, BCAR1, COG4, EXOSC6, IST1, LOC110121436, GABARAPL2, ZNF23, LOC121587559, SNORD111B, LOC111365213, TERB1, CMTR2, ZFP90, ATXN1L, LINC00920, NRN1L, ESRP2, DPEP2NB, HSF4, LOC121847990, SNTB2, LOC121587556, CES2, HSD11B2, LINC02136, NQO1, LOC100129617, ADAT1, LOC121587564, TMEM208, LOC110120573, LOC121587565, LOC105371335, SLC9A5, MATCAP1, BEAN1-AS1, ELMO3, PLA2G15, RIPOR1, NIP7, CALB2, CTCF, BCO1, VPS4A, LOC112486213, TK2, CKLF, SMPD3, EXOC3L1, LINC02125, NFATC3, CDYL2, CDH16, CMTM3, LINC01572, LRRC36, RANBP10, LOC121847993, CHTF8, LOC111556152, LOC105371328, PHLPP2, DDX19A-DT, TANGO6, CTRL, ZNF19, CTRB1, TRG-GCC2-5, TERF2, CDH5, LOC110120824, PSMB10, BEAN1, PMFBP1, CLEC3A, ACD, DPEP3, MIR6504, LOC101928417, DPEP2, TRK-TTT1-1, IL34, UTP4, LOC110121410, PARD6A, CLEC18B, CMIP, ATMIN, TRG-GCC2-4, TRG-GCC5-1, ZDHHC1, DYNC1LI2-DT, LOC112486208, MAFTRR, LOC112486203, HCCAT5, LOC121587554, CHST5, SNORA70D, LINC01229, HSD17B2-AS1, LOC110120569, NQO1-DT, PDF, PKD1L3, LOC110120572, PSMD7-DT, CKLF-CMTM1, LOC100505942, PDP2, TAT-AS1, SNORD13H, LOC121587549, DYNLRB2-AS1, ST3GAL2, ZFP1, WWOX-AS1, TSNAXIP1, FBXL8, LOC112486207, LOC112486211, DYNC1LI2, MIR1538, COG8, ZFHX3-AS1, EDC4, CARMIL2, VAC14, LCAT, WDR59, THAP11, MIR140, CBFB, CTRB2, LOC112486212, CMTM4, TAT, AARS1, CIAO2B, LOC121847991, CTCF-DT, CMC2, LOC112469016, LOC105376772, GLG1, CES4A, DHX38, PRMT7, LOC101928446, PLEKHG4, CMTM2, LOC121587552, ADAMTS18, SNORD71, CPHXL2, CNTNAP4, FA2H, TMED6, MAF, DERPC, LDHD, ZNRF1, LOC121847992, LOC112486202, CDH13, GCSH, PDPR, HSD17B2, ATP6V0D1, CFDP1, LRRC29, HP, TPPP3, CMTM1, VAC14-AS1, TRM-CAT2-1, LOC121587562, DYNLRB2, TRG-GCC3-1, ARLNC1, AGRP, FCSK, HPR, RRAD, PLCG2, LOC121847994, LINC01568, SF3B3 | | See cases | Pathogenic (Mar 10, 2014) | no assertion criteria provided |
| - GRCh37:
- Chr16:68732844-74387103
- GRCh38:
- Chr16:68698941-74353205
| AARS1, AP1G1, ATXN1L, C16orf47, CALB2, CDH1, CDH3, CHST4, CHTF8, CLEC18A, CLEC18C, CMTR2, COG4, COG8, CYB5B, DDX19A, DDX19A-DT, DDX19B, DERPC, DHODH, DHX38, EXOSC6, FCSK, HAS3, HCCAT5, HP, HPR, HYDIN, IL34, IST1, LINC01568, LINC01572, LINC02136, LOC105371328, LOC105371335, LOC108251797, LOC110120571, LOC110120572, LOC110120573, LOC110120824, LOC110121410, LOC110121436, LOC111413029, LOC112486201, LOC112486202, LOC112486203, LOC112486204, LOC112486205, LOC112486206, LOC121587552, LOC121587553, LOC121587554, LOC121587555, LOC121587556, LOC121587557, LOC121587558, LOC121587559, LOC121587560, LOC121587561, LOC121847990, LOC400541, MARVELD3, MIR140, MIR1538, MIR1972-2, MTSS2, NFAT5, NIP7, NOB1, NQO1, NQO1-DT, PDF, PDPR, PHLPP2, PKD1L3, PMFBP1, PSMD7, PSMD7-DT, SF3B3, SNORA70D, SNORD111, SNORD111B, SNORD13H, SNORD71, SNTB2, ST3GAL2, TANGO6, TAT, TAT-AS1, TERF2, TLE7, TMED6, TRG-GCC2-4, TRG-GCC2-5, TRG-GCC3-1, TRG-GCC5-1, TRK-TTT1-1, TRM-CAT2-1, TXNL4B, UTP4, VAC14, VAC14-AS1, VPS4A, WWP2, ZFHX3, ZFHX3-AS1, ZNF19, ZNF23, ZNF821 | | See cases | Pathogenic (Aug 12, 2011) | criteria provided, single submitter |
| - GRCh37:
- Chr16:69087360-83308286
- GRCh38:
- Chr16:69053457-83274681
| GAN, PKD1L3, HCCAT5, LINC02131, CPHXL2, LOC121847991, MIR8058, WWP2, CLEC18A, GLG1, MAF, IL34, SNORD71, CFDP1, LOC105371335, DYNLRB2, CALB2, TERF2IP, LOC112486206, KARS1, PMFBP1, MPHOSPH6, LOC110121436, CPHXL, LOC101928417, HAS3, ZNF23, LOC121587555, LINC01568, TRG-GCC2-4, FCSK, LOC121587563, SNORA70D, RFWD3, LOC111365156, LOC110121410, LOC121587561, TMEM170A, WWOX, ZFHX3, ADAT1, TRG-GCC3-1, LDHD, CHST5, TXNL4B, DDX19A, WWOX-AS1, LOC108254672, TANGO6, LOC110120571, LOC112486204, HYDIN, LOC111365213, LOC105376772, CLEC3A, DDX19A-DT, LOC112486202, LOC121587565, LOC121587560, ATMIN, LOC112486209, LOC121587553, NQO1, LOC110120573, LINC02125, MIR140, LOC113939956, TAT-AS1, GCSH, AP1G1, LOC121587554, VAT1L, TAT, CMTR2, LOC100506281, LOC112486211, COG8, DERPC, PDPR, MARVELD3, LOC110120569, CYB5B, NQO1-DT, LINC02136, PHLPP2, MIR4720, ATXN1L, ST3GAL2, LOC111429607, MIR4719, LOC111413029, VPS4A, CTRB1, DUXB, LOC110120824, VAC14-AS1, CDH13, C16orf46, CTRB2, WDR59, LOC121847992, CMC2, MIR6504, MTSS2, SNORD111B, LOC121587558, MLKL, NPIPB15, TMEM231, LINC01227, SF3B3, VAC14, MIR1538, LINC01572, CHTF8, CENPN, LOC121587562, CNTNAP4, SYCE1L, LINC01228, PDF, FA2H, ZNF821, ZNF19, ZNRF1, AARS1, LOC112486214, LOC110121468, LOC112486212, LOC112486207, LOC110120570, NUDT7, EXOSC6, MON1B, LOC121587559, LINC01229, LOC101928446, CLEC18C, COG4, TMED6, SNTB2, DHX38, UTP4, TERF2, LOC121847993, LOC121587556, LOC112486213, HP, LOC100129617, PSMD7, DDX19B, HSD17B2, LOC108251797, MAFTRR, ZFP1, LOC121587564, TRK-TTT1-1, LOC112486205, MIR7854, NIP7, BCO1, LOC400541, TRG-GCC5-1, SNORD111, C16orf47, PKD1L2, PSMD7-DT, HPR, LOC111556152, LOC121587552, MIR1972-2, LOC110120572, LOC121847990, HSD17B2-AS1, ADAMTS18, DYNLRB2-AS1, CHST4, CDYL2, SDR42E1, TLE7, CMIP, CHST6, BCAR1, LOC121587557, ARLNC1, LOC112486208, CLEC18B, ZFHX3-AS1, DHODH, TRM-CAT2-1, LOC112486203, PLCG2, LOC105371328, LOC112486210, IST1, NFAT5, SNORD13H, NOB1, TRG-GCC2-5, GABARAPL2 | | See cases | Pathogenic (Sep 3, 2013) | no assertion criteria provided |
| - GRCh37:
- Chr16:69178553-70291785
- GRCh38:
- Chr16:69144650-70257882
| AARS1, CLEC18A, CLEC18C, COG8, CYB5B, EXOSC6, LOC105371328, LOC112486202, LOC112486203, LOC121587552, LOC400541, MIR140, MIR1538, MIR1972-2, NFAT5, NIP7, NOB1, NQO1, NQO1-DT, PDF, PDPR, SNORD13H, SNTB2, TERF2, TMED6, UTP4, VPS4A, WWP2 | | See cases | Uncertain significance (Dec 22, 2010) | no assertion criteria provided |
| - GRCh37:
- Chr16:69951979-71575775
- GRCh38:
- Chr16:69918076-71541872
| AARS1, CALB2, CHST4, CLEC18A, CLEC18C, CMTR2, COG4, DDX19A, DDX19A-DT, DDX19B, EXOSC6, FCSK, HYDIN, IL34, LINC02136, LOC105371328, LOC105371335, LOC112486204, LOC121587553, LOC121587554, LOC121587555, LOC121587556, LOC121587557, LOC121587558, LOC121847990, LOC400541, MIR140, MIR1972-2, MTSS2, PDPR, SF3B3, SNORD111, SNORD111B, ST3GAL2, TLE7, TRG-GCC2-4, TRG-GCC2-5, TRG-GCC3-1, TRG-GCC5-1, TRM-CAT2-1, VAC14, VAC14-AS1, WWP2, ZNF19, ZNF23 | | See cases | Uncertain significance (Nov 4, 2011) | no assertion criteria provided |
| - GRCh37:
- Chr16:69951979-76757245
- GRCh38:
- Chr16:69918076-76723348
| AARS1, ADAT1, AP1G1, ATXN1L, BCAR1, C16orf47, CALB2, CFDP1, CHST4, CHST5, CHST6, CLEC18A, CLEC18B, CLEC18C, CMTR2, CNTNAP4, COG4, CPHXL, CPHXL2, CTRB1, CTRB2, DDX19A, DDX19A-DT, DDX19B, DHODH, DHX38, DUXB, EXOSC6, FA2H, FCSK, GABARAPL2, GLG1, HCCAT5, HP, HPR, HYDIN, IL34, IST1, KARS1, LDHD, LINC01568, LINC01572, LINC02125, LINC02136, LOC100506281, LOC105371328, LOC105371335, LOC105376772, LOC108251797, LOC108254672, LOC110120571, LOC110120572, LOC110120573, LOC110120824, LOC110121410, LOC110121436, LOC111413029, LOC112486204, LOC112486205, LOC112486206, LOC112486207, LOC121587553, LOC121587554, LOC121587555, LOC121587556, LOC121587557, LOC121587558, LOC121587559, LOC121587560, LOC121587561, LOC121847990, LOC121847991, LOC121847992, LOC400541, MARVELD3, MIR140, MIR1972-2, MLKL, MTSS2, NPIPB15, PDPR, PHLPP2, PKD1L3, PMFBP1, PSMD7, PSMD7-DT, RFWD3, SF3B3, SNORA70D, SNORD111, SNORD111B, SNORD71, ST3GAL2, TAT, TAT-AS1, TERF2IP, TLE7, TMEM170A, TMEM231, TRG-GCC2-4, TRG-GCC2-5, TRG-GCC3-1, TRG-GCC5-1, TRK-TTT1-1, TRM-CAT2-1, TXNL4B, VAC14, VAC14-AS1, WDR59, WWP2, ZFHX3, ZFHX3-AS1, ZFP1, ZNF19, ZNF23, ZNF821, ZNRF1 | | See cases | Pathogenic (Aug 12, 2011) | criteria provided, single submitter |
| - GRCh37:
- Chr16:70286300
- GRCh38:
- Chr16:70252397
| AARS1 | | Charcot-Marie-Tooth disease axonal type 2N | Uncertain significance (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr16:70286373
- GRCh38:
- Chr16:70252470
| AARS1 | | not provided, Charcot-Marie-Tooth disease axonal type 2N | Benign/Likely benign (Dec 23, 2018) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr16:70286411
- GRCh38:
- Chr16:70252508
| AARS1 | | Charcot-Marie-Tooth disease axonal type 2N | Likely benign (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr16:70286455
- GRCh38:
- Chr16:70252552
| AARS1 | | Charcot-Marie-Tooth disease axonal type 2N | Uncertain significance (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr16:70286483
- GRCh38:
- Chr16:70252580
| AARS1 | | Charcot-Marie-Tooth disease axonal type 2N | Benign (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr16:70286493
- GRCh38:
- Chr16:70252590
| AARS1 | | Charcot-Marie-Tooth disease axonal type 2N | Uncertain significance (Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr16:70286550
- GRCh38:
- Chr16:70252647
| AARS1 | | not provided, Charcot-Marie-Tooth disease axonal type 2N | Benign (Jun 16, 2018) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr16:70286592
- GRCh38:
- Chr16:70252689
| AARS1 | | Charcot-Marie-Tooth disease axonal type 2N | Uncertain significance (Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr16:70286604-70296447
- GRCh38:
- Chr16:70252701-70262544
| AARS1 | | Charcot-Marie-Tooth disease type 2 | Uncertain significance (Mar 8, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr16:70286614-70669268
- GRCh38:
- Chr16:70252711-70635365
| AARS1, COG4, DDX19A, DDX19A-DT, DDX19B, FCSK, IL34, LOC112486204, SF3B3, SNORD111, SNORD111B, ST3GAL2 | | Charcot-Marie-Tooth disease type 2 | Uncertain significance (Sep 11, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr16:70286614-70296437
- GRCh38:
- Chr16:70252711-70262534
| AARS1 | | Charcot-Marie-Tooth disease type 2 | Uncertain significance (Dec 12, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr16:70286630
- GRCh38:
- Chr16:70252727
| AARS1 | K967N | Inborn genetic diseases, Charcot-Marie-Tooth disease type 2 | Uncertain significance (Sep 7, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr16:70286631
- GRCh38:
- Chr16:70252728
| AARS1 | K967M | Leukoencephalopathy, hereditary diffuse, with spheroids 2, Trichothiodystrophy 8, nonphotosensitive, Charcot-Marie-Tooth disease axonal type 2N, Developmental and epileptic encephalopathy, 29, Charcot-Marie-Tooth disease type 2, not provided, Charcot-Marie-Tooth disease axonal type 2N | Benign/Likely benign (Dec 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr16:70286641
- GRCh38:
- Chr16:70252738
| AARS1 | G964R | Charcot-Marie-Tooth disease type 2 | Uncertain significance (Feb 8, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr16:70286642
- GRCh38:
- Chr16:70252739
| AARS1 | | Charcot-Marie-Tooth disease type 2 | Likely benign (Jul 18, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr16:70286642
- GRCh38:
- Chr16:70252739
| AARS1 | | not provided, Charcot-Marie-Tooth disease type 2 | Likely benign (Aug 31, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr16:70286651
- GRCh38:
- Chr16:70252748
| AARS1 | Q960H | Inborn genetic diseases | Uncertain significance (Jun 22, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr16:70286652
- GRCh38:
- Chr16:70252749
| AARS1 | Q960P | Charcot-Marie-Tooth disease type 2 | Uncertain significance (Aug 31, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr16:70286658
- GRCh38:
- Chr16:70252755
| AARS1 | F958S | Developmental and epileptic encephalopathy, 29 | Likely pathogenic (Apr 25, 2018) | no assertion criteria provided |
| - GRCh37:
- Chr16:70286660
- GRCh38:
- Chr16:70252757
| AARS1 | F958fs | not provided | Uncertain significance (Feb 8, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr16:70286661
- GRCh38:
- Chr16:70252758
| AARS1 | S957C | Inborn genetic diseases, Charcot-Marie-Tooth disease type 2, not provided
| Uncertain significance (Aug 23, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr16:70286664
- GRCh38:
- Chr16:70252761
| AARS1 | T956I | Charcot-Marie-Tooth disease type 2 | Uncertain significance (Jul 19, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr16:70286668
- GRCh38:
- Chr16:70252765
| AARS1 | A955P | Charcot-Marie-Tooth disease type 2 | Uncertain significance (Jun 28, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr16:70286671
- GRCh38:
- Chr16:70252768
| AARS1 | | Charcot-Marie-Tooth disease type 2 | Likely benign (Jun 23, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr16:70286672
- GRCh38:
- Chr16:70252769
| AARS1 | Q953H | Charcot-Marie-Tooth disease type 2 | Uncertain significance (Jan 11, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr16:70286678
- GRCh38:
- Chr16:70252775
| AARS1 | | Charcot-Marie-Tooth disease type 2 | Likely benign (Mar 22, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr16:70286682
- GRCh38:
- Chr16:70252779
| AARS1 | E950V | Charcot-Marie-Tooth disease type 2 | Uncertain significance (Sep 19, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr16:70286686
- GRCh38:
- Chr16:70252783
| AARS1 | Q949E | Charcot-Marie-Tooth disease type 2 | Uncertain significance (Aug 23, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr16:70286690
- GRCh38:
- Chr16:70252787
| AARS1 | | Charcot-Marie-Tooth disease type 2, Inborn genetic diseases | Likely benign (Jul 11, 2019) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr16:70286696
- GRCh38:
- Chr16:70252793
| AARS1 | | Charcot-Marie-Tooth disease type 2 | Likely benign (Oct 30, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr16:70286709
- GRCh38:
- Chr16:70252806
| AARS1 | T941I | Charcot-Marie-Tooth disease type 2 | Uncertain significance (Jun 24, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr16:70286712
- GRCh38:
- Chr16:70252809
| AARS1 | A940V | Charcot-Marie-Tooth disease type 2 | Uncertain significance (Oct 20, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr16:70286714
- GRCh38:
- Chr16:70252811
| AARS1 | | Charcot-Marie-Tooth disease type 2, not provided | Likely benign (Sep 23, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr16:70286714
- GRCh38:
- Chr16:70252811
| AARS1 | Q939H | Charcot-Marie-Tooth disease type 2 | Uncertain significance (Aug 28, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr16:70286720
- GRCh38:
- Chr16:70252817
| AARS1 | | Charcot-Marie-Tooth disease type 2 | Likely benign (Sep 2, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr16:70286740
- GRCh38:
- Chr16:70252837
| AARS1 | G931S | Charcot-Marie-Tooth disease type 2, not provided, Charcot-Marie-Tooth disease axonal type 2N
| Benign/Likely benign (Dec 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr16:70286746
- GRCh38:
- Chr16:70252843
| AARS1 | G929S | Charcot-Marie-Tooth disease type 2 | Uncertain significance (Jun 21, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr16:70286746
- GRCh38:
- Chr16:70252843
| AARS1 | G929R | Inborn genetic diseases | Uncertain significance (May 11, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr16:70286755
- GRCh38:
- Chr16:70252852
| AARS1 | | not provided, Charcot-Marie-Tooth disease type 2 | Likely benign (Aug 22, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr16:70286761
- GRCh38:
- Chr16:70252858
| AARS1 | S924A | not provided, Charcot-Marie-Tooth disease type 2 | Conflicting interpretations of pathogenicity (Oct 17, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr16:70286766
- GRCh38:
- Chr16:70252863
| AARS1 | Q922L | Charcot-Marie-Tooth disease type 2 | Uncertain significance (Apr 8, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr16:70286774
- GRCh38:
- Chr16:70252871
| AARS1 | W919* | Charcot-Marie-Tooth disease type 2 | Uncertain significance (Aug 16, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr16:70286777
- GRCh38:
- Chr16:70252874
| AARS1 | | not provided, Charcot-Marie-Tooth disease type 2 | Likely benign (Aug 24, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr16:70286779
- GRCh38:
- Chr16:70252876
| AARS1 | E918K | Charcot-Marie-Tooth disease type 2 | Uncertain significance (Aug 11, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr16:70286782
- GRCh38:
- Chr16:70252879
| AARS1 | S917R | Charcot-Marie-Tooth disease type 2 | Uncertain significance (Aug 23, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr16:70286783
- GRCh38:
- Chr16:70252880
| AARS1 | | Charcot-Marie-Tooth disease type 2 | Likely benign (May 1, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr16:70286790-70286791
- GRCh38:
- Chr16:70252887-70252888
| AARS1 | | Inborn genetic diseases, Charcot-Marie-Tooth disease type 2 | Uncertain significance (Oct 13, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr16:70286790
- GRCh38:
- Chr16:70252887
| AARS1 | | Charcot-Marie-Tooth disease type 2 | Uncertain significance (Oct 5, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr16:70286793
- GRCh38:
- Chr16:70252890
| AARS1 | G913V | Charcot-Marie-Tooth disease type 2 | Uncertain significance (Aug 28, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr16:70286793
- GRCh38:
- Chr16:70252890
| AARS1 | G913D | Developmental and epileptic encephalopathy, 29, Charcot-Marie-Tooth disease type 2, not provided
| Conflicting interpretations of pathogenicity (Oct 28, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr16:70286795
- GRCh38:
- Chr16:70252892
| AARS1 | | Charcot-Marie-Tooth disease type 2 | Likely benign (Aug 27, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr16:70286796
- GRCh38:
- Chr16:70252893
| AARS1 | R912Q | Charcot-Marie-Tooth disease type 2 | Uncertain significance (Sep 21, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr16:70286799
- GRCh38:
- Chr16:70252896
| AARS1 | N911S | Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease type 2, Inborn genetic diseases, not provided, Charcot-Marie-Tooth disease axonal type 2N | Conflicting interpretations of pathogenicity (Oct 21, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr16:70286801
- GRCh38:
- Chr16:70252898
| AARS1 | | Charcot-Marie-Tooth disease axonal type 2N, Charcot-Marie-Tooth disease type 2, not provided
| Likely benign (Sep 3, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr16:70286807
- GRCh38:
- Chr16:70252904
| AARS1 | | Charcot-Marie-Tooth disease type 2 | Likely benign (Jun 11, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr16:70286811
- GRCh38:
- Chr16:70252908
| AARS1 | | Charcot-Marie-Tooth disease type 2 | Uncertain significance (Dec 18, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr16:70286811
- GRCh38:
- Chr16:70252908
| AARS1 | | Charcot-Marie-Tooth disease type 2 | Uncertain significance (Jul 13, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr16:70286816
- GRCh38:
- Chr16:70252913
| AARS1 | | Charcot-Marie-Tooth disease type 2 | Likely benign (Jul 19, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr16:70286821
- GRCh38:
- Chr16:70252918
| AARS1 | | Charcot-Marie-Tooth disease type 2 | Likely benign (Oct 24, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr16:70286825
- GRCh38:
- Chr16:70252922
| AARS1 | | Charcot-Marie-Tooth disease type 2 | Likely benign (Oct 25, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr16:70286829
- GRCh38:
- Chr16:70252926
| AARS1 | | Charcot-Marie-Tooth disease type 2 | Likely benign (Oct 10, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr16:70286941-70286942
- GRCh38:
- Chr16:70253038-70253039
| AARS1 | | not provided | Likely benign (Dec 23, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr16:70287154
- GRCh38:
- Chr16:70253251
| AARS1 | | Charcot-Marie-Tooth disease type 2 | Likely benign (Jan 29, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr16:70287156
- GRCh38:
- Chr16:70253253
| AARS1 | | Charcot-Marie-Tooth disease type 2 | Likely benign (Sep 23, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr16:70287156
- GRCh38:
- Chr16:70253253
| AARS1 | | Charcot-Marie-Tooth disease type 2 | Likely benign (Aug 15, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr16:70287156
- GRCh38:
- Chr16:70253253
| AARS1 | | Charcot-Marie-Tooth disease type 2 | Likely benign (Aug 23, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr16:70287157
- GRCh38:
- Chr16:70253254
| AARS1 | | Charcot-Marie-Tooth disease type 2 | Likely benign (Aug 14, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr16:70287163
- GRCh38:
- Chr16:70253260
| AARS1 | | Charcot-Marie-Tooth disease type 2 | Likely benign (Nov 14, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr16:70287168
- GRCh38:
- Chr16:70253265
| AARS1 | | Charcot-Marie-Tooth disease type 2 | Uncertain significance (Sep 1, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr16:70287176
- GRCh38:
- Chr16:70253273
| AARS1 | P906A | Charcot-Marie-Tooth disease type 2 | Uncertain significance (Jun 8, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr16:70287177
- GRCh38:
- Chr16:70253274
| AARS1 | | Charcot-Marie-Tooth disease type 2 | Likely benign (Jun 13, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr16:70287177
- GRCh38:
- Chr16:70253274
| AARS1 | | not provided, Charcot-Marie-Tooth disease axonal type 2N, Developmental and epileptic encephalopathy, 29, Charcot-Marie-Tooth disease type 2 | Benign (Nov 4, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr16:70287180
- GRCh38:
- Chr16:70253277
| AARS1 | | not specified | Likely benign (Feb 8, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr16:70287186
- GRCh38:
- Chr16:70253283
| AARS1 | | Charcot-Marie-Tooth disease type 2 | Likely benign (May 15, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr16:70287186
- GRCh38:
- Chr16:70253283
| AARS1 | | not provided, Charcot-Marie-Tooth disease type 2 | Likely benign (Dec 20, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr16:70287190
- GRCh38:
- Chr16:70253287
| AARS1 | C901Y | Trichothiodystrophy 8, nonphotosensitive | Pathogenic (Jan 5, 2022) | no assertion criteria provided |
| - GRCh37:
- Chr16:70287192
- GRCh38:
- Chr16:70253289
| AARS1 | | not provided, Inborn genetic diseases, Charcot-Marie-Tooth disease axonal type 2N, Charcot-Marie-Tooth disease type 2 | Benign/Likely benign (Nov 2, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr16:70287198
- GRCh38:
- Chr16:70253295
| AARS1 | K898N | Charcot-Marie-Tooth disease type 2 | Uncertain significance (Sep 16, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr16:70287206
- GRCh38:
- Chr16:70253303
| AARS1 | A896T | Charcot-Marie-Tooth disease type 2 | Uncertain significance (Sep 23, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr16:70287211
- GRCh38:
- Chr16:70253308
| AARS1 | N894S | Inborn genetic diseases, Charcot-Marie-Tooth disease type 2 | Conflicting interpretations of pathogenicity (Oct 29, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr16:70287215
- GRCh38:
- Chr16:70253312
| AARS1 | D893N | not provided | Uncertain significance (May 22, 2012) | no assertion criteria provided |
| - GRCh37:
- Chr16:70287219
- GRCh38:
- Chr16:70253316
| AARS1 | | Charcot-Marie-Tooth disease type 2 | Likely benign (Aug 22, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr16:70287220
- GRCh38:
- Chr16:70253317
| AARS1 | T891M | Inborn genetic diseases | Uncertain significance (Oct 31, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr16:70287227
- GRCh38:
- Chr16:70253324
| AARS1 | L889F | Charcot-Marie-Tooth disease type 2 | Uncertain significance (Sep 2, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr16:70287228
- GRCh38:
- Chr16:70253325
| AARS1 | M888I | Charcot-Marie-Tooth disease type 2 | Uncertain significance (Mar 31, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr16:70287230
- GRCh38:
- Chr16:70253327
| AARS1 | M888L | not provided | Uncertain significance (Mar 12, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr16:70287239
- GRCh38:
- Chr16:70253336
| AARS1 | T885A | Charcot-Marie-Tooth disease type 2 | Uncertain significance (Jun 9, 2022) | criteria provided, single submitter |