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Items: 1 to 100 of 1168

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review status
1.
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 casesPathogenic
(Sep 27, 2013)
no assertion criteria provided
2.
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 casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
3.
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 casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
4.
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 casesPathogenic
(Oct 20, 2010)
no assertion criteria provided
5.
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 casesPathogenic
(Dec 22, 2010)
no assertion criteria provided
6.
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 casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
7.
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 casesPathogenic
(Jul 2, 2012)
no assertion criteria provided
8.
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 casesPathogenic
(Mar 10, 2014)
no assertion criteria provided
9.
GRCh37:
Chr16:68732844-74387103
GRCh38:
Chr16:68698941-74353205
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
10.
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 casesPathogenic
(Sep 3, 2013)
no assertion criteria provided
11.
GRCh37:
Chr16:69178553-70291785
GRCh38:
Chr16:69144650-70257882
See casesUncertain significance
(Dec 22, 2010)
no assertion criteria provided
12.
GRCh37:
Chr16:69951979-71575775
GRCh38:
Chr16:69918076-71541872
See casesUncertain significance
(Nov 4, 2011)
no assertion criteria provided
13.
GRCh37:
Chr16:69951979-76757245
GRCh38:
Chr16:69918076-76723348
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
14.
GRCh37:
Chr16:70286300
GRCh38:
Chr16:70252397
AARS1Charcot-Marie-Tooth disease axonal type 2NUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
15.
GRCh37:
Chr16:70286373
GRCh38:
Chr16:70252470
AARS1not provided, Charcot-Marie-Tooth disease axonal type 2NBenign/Likely benign
(Dec 23, 2018)
criteria provided, multiple submitters, no conflicts
16.
GRCh37:
Chr16:70286411
GRCh38:
Chr16:70252508
AARS1Charcot-Marie-Tooth disease axonal type 2NLikely benign
(Jan 13, 2018)
criteria provided, single submitter
17.
GRCh37:
Chr16:70286455
GRCh38:
Chr16:70252552
AARS1Charcot-Marie-Tooth disease axonal type 2NUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
18.
GRCh37:
Chr16:70286483
GRCh38:
Chr16:70252580
AARS1Charcot-Marie-Tooth disease axonal type 2NBenign
(Jan 13, 2018)
criteria provided, single submitter
19.
GRCh37:
Chr16:70286493
GRCh38:
Chr16:70252590
AARS1Charcot-Marie-Tooth disease axonal type 2NUncertain significance
(Jan 12, 2018)
criteria provided, single submitter
20.
GRCh37:
Chr16:70286550
GRCh38:
Chr16:70252647
AARS1not provided, Charcot-Marie-Tooth disease axonal type 2NBenign
(Jun 16, 2018)
criteria provided, multiple submitters, no conflicts
21.
GRCh37:
Chr16:70286592
GRCh38:
Chr16:70252689
AARS1Charcot-Marie-Tooth disease axonal type 2NUncertain significance
(Jan 12, 2018)
criteria provided, single submitter
22.
GRCh37:
Chr16:70286604-70296447
GRCh38:
Chr16:70252701-70262544
AARS1Charcot-Marie-Tooth disease type 2Uncertain significance
(Mar 8, 2018)
criteria provided, single submitter
23.
GRCh37:
Chr16:70286614-70669268
GRCh38:
Chr16:70252711-70635365
Charcot-Marie-Tooth disease type 2Uncertain significance
(Sep 11, 2018)
criteria provided, single submitter
24.
GRCh37:
Chr16:70286614-70296437
GRCh38:
Chr16:70252711-70262534
AARS1Charcot-Marie-Tooth disease type 2Uncertain significance
(Dec 12, 2019)
criteria provided, single submitter
25.
GRCh37:
Chr16:70286630
GRCh38:
Chr16:70252727
AARS1K967NInborn genetic diseases, Charcot-Marie-Tooth disease type 2Uncertain significance
(Sep 7, 2022)
criteria provided, multiple submitters, no conflicts
26.
GRCh37:
Chr16:70286631
GRCh38:
Chr16:70252728
AARS1K967MLeukoencephalopathy, 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
27.
GRCh37:
Chr16:70286641
GRCh38:
Chr16:70252738
AARS1G964RCharcot-Marie-Tooth disease type 2Uncertain significance
(Feb 8, 2022)
criteria provided, single submitter
28.
GRCh37:
Chr16:70286642
GRCh38:
Chr16:70252739
AARS1Charcot-Marie-Tooth disease type 2Likely benign
(Jul 18, 2022)
criteria provided, single submitter
29.
GRCh37:
Chr16:70286642
GRCh38:
Chr16:70252739
AARS1not provided, Charcot-Marie-Tooth disease type 2Likely benign
(Aug 31, 2022)
criteria provided, single submitter
30.
GRCh37:
Chr16:70286651
GRCh38:
Chr16:70252748
AARS1Q960HInborn genetic diseasesUncertain significance
(Jun 22, 2021)
criteria provided, single submitter
31.
GRCh37:
Chr16:70286652
GRCh38:
Chr16:70252749
AARS1Q960PCharcot-Marie-Tooth disease type 2Uncertain significance
(Aug 31, 2021)
criteria provided, single submitter
32.
GRCh37:
Chr16:70286658
GRCh38:
Chr16:70252755
AARS1F958SDevelopmental and epileptic encephalopathy, 29Likely pathogenic
(Apr 25, 2018)
no assertion criteria provided
33.
GRCh37:
Chr16:70286660
GRCh38:
Chr16:70252757
AARS1F958fsnot providedUncertain significance
(Feb 8, 2018)
criteria provided, single submitter
34.
GRCh37:
Chr16:70286661
GRCh38:
Chr16:70252758
AARS1S957CInborn genetic diseases, Charcot-Marie-Tooth disease type 2, not provided
Uncertain significance
(Aug 23, 2022)
criteria provided, multiple submitters, no conflicts
35.
GRCh37:
Chr16:70286664
GRCh38:
Chr16:70252761
AARS1T956ICharcot-Marie-Tooth disease type 2Uncertain significance
(Jul 19, 2022)
criteria provided, single submitter
36.
GRCh37:
Chr16:70286668
GRCh38:
Chr16:70252765
AARS1A955PCharcot-Marie-Tooth disease type 2Uncertain significance
(Jun 28, 2022)
criteria provided, single submitter
37.
GRCh37:
Chr16:70286671
GRCh38:
Chr16:70252768
AARS1Charcot-Marie-Tooth disease type 2Likely benign
(Jun 23, 2021)
criteria provided, single submitter
38.
GRCh37:
Chr16:70286672
GRCh38:
Chr16:70252769
AARS1Q953HCharcot-Marie-Tooth disease type 2Uncertain significance
(Jan 11, 2022)
criteria provided, single submitter
39.
GRCh37:
Chr16:70286678
GRCh38:
Chr16:70252775
AARS1Charcot-Marie-Tooth disease type 2Likely benign
(Mar 22, 2022)
criteria provided, single submitter
40.
GRCh37:
Chr16:70286682
GRCh38:
Chr16:70252779
AARS1E950VCharcot-Marie-Tooth disease type 2Uncertain significance
(Sep 19, 2021)
criteria provided, single submitter
41.
GRCh37:
Chr16:70286686
GRCh38:
Chr16:70252783
AARS1Q949ECharcot-Marie-Tooth disease type 2Uncertain significance
(Aug 23, 2022)
criteria provided, single submitter
42.
GRCh37:
Chr16:70286690
GRCh38:
Chr16:70252787
AARS1Charcot-Marie-Tooth disease type 2, Inborn genetic diseasesLikely benign
(Jul 11, 2019)
criteria provided, multiple submitters, no conflicts
43.
GRCh37:
Chr16:70286696
GRCh38:
Chr16:70252793
AARS1Charcot-Marie-Tooth disease type 2Likely benign
(Oct 30, 2022)
criteria provided, single submitter
44.
GRCh37:
Chr16:70286709
GRCh38:
Chr16:70252806
AARS1T941ICharcot-Marie-Tooth disease type 2Uncertain significance
(Jun 24, 2022)
criteria provided, single submitter
45.
GRCh37:
Chr16:70286712
GRCh38:
Chr16:70252809
AARS1A940VCharcot-Marie-Tooth disease type 2Uncertain significance
(Oct 20, 2022)
criteria provided, single submitter
46.
GRCh37:
Chr16:70286714
GRCh38:
Chr16:70252811
AARS1Charcot-Marie-Tooth disease type 2, not providedLikely benign
(Sep 23, 2022)
criteria provided, single submitter
47.
GRCh37:
Chr16:70286714
GRCh38:
Chr16:70252811
AARS1Q939HCharcot-Marie-Tooth disease type 2Uncertain significance
(Aug 28, 2021)
criteria provided, single submitter
48.
GRCh37:
Chr16:70286720
GRCh38:
Chr16:70252817
AARS1Charcot-Marie-Tooth disease type 2Likely benign
(Sep 2, 2022)
criteria provided, single submitter
49.
GRCh37:
Chr16:70286740
GRCh38:
Chr16:70252837
AARS1G931SCharcot-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
50.
GRCh37:
Chr16:70286746
GRCh38:
Chr16:70252843
AARS1G929SCharcot-Marie-Tooth disease type 2Uncertain significance
(Jun 21, 2022)
criteria provided, single submitter
51.
GRCh37:
Chr16:70286746
GRCh38:
Chr16:70252843
AARS1G929RInborn genetic diseasesUncertain significance
(May 11, 2021)
criteria provided, single submitter
52.
GRCh37:
Chr16:70286755
GRCh38:
Chr16:70252852
AARS1not provided, Charcot-Marie-Tooth disease type 2Likely benign
(Aug 22, 2018)
criteria provided, single submitter
53.
GRCh37:
Chr16:70286761
GRCh38:
Chr16:70252858
AARS1S924Anot provided, Charcot-Marie-Tooth disease type 2Conflicting interpretations of pathogenicity
(Oct 17, 2022)
criteria provided, conflicting interpretations
54.
GRCh37:
Chr16:70286766
GRCh38:
Chr16:70252863
AARS1Q922LCharcot-Marie-Tooth disease type 2Uncertain significance
(Apr 8, 2022)
criteria provided, single submitter
55.
GRCh37:
Chr16:70286774
GRCh38:
Chr16:70252871
AARS1W919*Charcot-Marie-Tooth disease type 2Uncertain significance
(Aug 16, 2022)
criteria provided, single submitter
56.
GRCh37:
Chr16:70286777
GRCh38:
Chr16:70252874
AARS1not provided, Charcot-Marie-Tooth disease type 2Likely benign
(Aug 24, 2018)
criteria provided, single submitter
57.
GRCh37:
Chr16:70286779
GRCh38:
Chr16:70252876
AARS1E918KCharcot-Marie-Tooth disease type 2Uncertain significance
(Aug 11, 2021)
criteria provided, single submitter
58.
GRCh37:
Chr16:70286782
GRCh38:
Chr16:70252879
AARS1S917RCharcot-Marie-Tooth disease type 2Uncertain significance
(Aug 23, 2022)
criteria provided, single submitter
59.
GRCh37:
Chr16:70286783
GRCh38:
Chr16:70252880
AARS1Charcot-Marie-Tooth disease type 2Likely benign
(May 1, 2022)
criteria provided, single submitter
60.
GRCh37:
Chr16:70286790-70286791
GRCh38:
Chr16:70252887-70252888
AARS1Inborn genetic diseases, Charcot-Marie-Tooth disease type 2Uncertain significance
(Oct 13, 2022)
criteria provided, multiple submitters, no conflicts
61.
GRCh37:
Chr16:70286790
GRCh38:
Chr16:70252887
AARS1Charcot-Marie-Tooth disease type 2Uncertain significance
(Oct 5, 2021)
criteria provided, single submitter
62.
GRCh37:
Chr16:70286793
GRCh38:
Chr16:70252890
AARS1G913VCharcot-Marie-Tooth disease type 2Uncertain significance
(Aug 28, 2021)
criteria provided, single submitter
63.
GRCh37:
Chr16:70286793
GRCh38:
Chr16:70252890
AARS1G913DDevelopmental and epileptic encephalopathy, 29, Charcot-Marie-Tooth disease type 2, not provided
Conflicting interpretations of pathogenicity
(Oct 28, 2022)
criteria provided, conflicting interpretations
64.
GRCh37:
Chr16:70286795
GRCh38:
Chr16:70252892
AARS1Charcot-Marie-Tooth disease type 2Likely benign
(Aug 27, 2022)
criteria provided, single submitter
65.
GRCh37:
Chr16:70286796
GRCh38:
Chr16:70252893
AARS1R912QCharcot-Marie-Tooth disease type 2Uncertain significance
(Sep 21, 2022)
criteria provided, single submitter
66.
GRCh37:
Chr16:70286799
GRCh38:
Chr16:70252896
AARS1N911SCharcot-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
67.
GRCh37:
Chr16:70286801
GRCh38:
Chr16:70252898
AARS1Charcot-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
68.
GRCh37:
Chr16:70286807
GRCh38:
Chr16:70252904
AARS1Charcot-Marie-Tooth disease type 2Likely benign
(Jun 11, 2022)
criteria provided, single submitter
69.
GRCh37:
Chr16:70286811
GRCh38:
Chr16:70252908
AARS1Charcot-Marie-Tooth disease type 2Uncertain significance
(Dec 18, 2021)
criteria provided, single submitter
70.
GRCh37:
Chr16:70286811
GRCh38:
Chr16:70252908
AARS1Charcot-Marie-Tooth disease type 2Uncertain significance
(Jul 13, 2021)
criteria provided, single submitter
71.
GRCh37:
Chr16:70286816
GRCh38:
Chr16:70252913
AARS1Charcot-Marie-Tooth disease type 2Likely benign
(Jul 19, 2022)
criteria provided, single submitter
72.
GRCh37:
Chr16:70286821
GRCh38:
Chr16:70252918
AARS1Charcot-Marie-Tooth disease type 2Likely benign
(Oct 24, 2022)
criteria provided, single submitter
73.
GRCh37:
Chr16:70286825
GRCh38:
Chr16:70252922
AARS1Charcot-Marie-Tooth disease type 2Likely benign
(Oct 25, 2022)
criteria provided, single submitter
74.
GRCh37:
Chr16:70286829
GRCh38:
Chr16:70252926
AARS1Charcot-Marie-Tooth disease type 2Likely benign
(Oct 10, 2022)
criteria provided, single submitter
75.
GRCh37:
Chr16:70286941-70286942
GRCh38:
Chr16:70253038-70253039
AARS1not providedLikely benign
(Dec 23, 2018)
criteria provided, single submitter
76.
GRCh37:
Chr16:70287154
GRCh38:
Chr16:70253251
AARS1Charcot-Marie-Tooth disease type 2Likely benign
(Jan 29, 2021)
criteria provided, single submitter
77.
GRCh37:
Chr16:70287156
GRCh38:
Chr16:70253253
AARS1Charcot-Marie-Tooth disease type 2Likely benign
(Sep 23, 2022)
criteria provided, single submitter
78.
GRCh37:
Chr16:70287156
GRCh38:
Chr16:70253253
AARS1Charcot-Marie-Tooth disease type 2Likely benign
(Aug 15, 2022)
criteria provided, single submitter
79.
GRCh37:
Chr16:70287156
GRCh38:
Chr16:70253253
AARS1Charcot-Marie-Tooth disease type 2Likely benign
(Aug 23, 2022)
criteria provided, single submitter
80.
GRCh37:
Chr16:70287157
GRCh38:
Chr16:70253254
AARS1Charcot-Marie-Tooth disease type 2Likely benign
(Aug 14, 2021)
criteria provided, single submitter
81.
GRCh37:
Chr16:70287163
GRCh38:
Chr16:70253260
AARS1Charcot-Marie-Tooth disease type 2Likely benign
(Nov 14, 2021)
criteria provided, single submitter
82.
GRCh37:
Chr16:70287168
GRCh38:
Chr16:70253265
AARS1Charcot-Marie-Tooth disease type 2Uncertain significance
(Sep 1, 2022)
criteria provided, single submitter
83.
GRCh37:
Chr16:70287176
GRCh38:
Chr16:70253273
AARS1P906ACharcot-Marie-Tooth disease type 2Uncertain significance
(Jun 8, 2022)
criteria provided, single submitter
84.
GRCh37:
Chr16:70287177
GRCh38:
Chr16:70253274
AARS1Charcot-Marie-Tooth disease type 2Likely benign
(Jun 13, 2022)
criteria provided, single submitter
85.
GRCh37:
Chr16:70287177
GRCh38:
Chr16:70253274
AARS1not 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
86.
GRCh37:
Chr16:70287180
GRCh38:
Chr16:70253277
AARS1not specifiedLikely benign
(Feb 8, 2018)
criteria provided, single submitter
87.
GRCh37:
Chr16:70287186
GRCh38:
Chr16:70253283
AARS1Charcot-Marie-Tooth disease type 2Likely benign
(May 15, 2022)
criteria provided, single submitter
88.
GRCh37:
Chr16:70287186
GRCh38:
Chr16:70253283
AARS1not provided, Charcot-Marie-Tooth disease type 2Likely benign
(Dec 20, 2018)
criteria provided, single submitter
89.
GRCh37:
Chr16:70287190
GRCh38:
Chr16:70253287
AARS1C901YTrichothiodystrophy 8, nonphotosensitivePathogenic
(Jan 5, 2022)
no assertion criteria provided
90.
GRCh37:
Chr16:70287192
GRCh38:
Chr16:70253289
AARS1not 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
91.
GRCh37:
Chr16:70287198
GRCh38:
Chr16:70253295
AARS1K898NCharcot-Marie-Tooth disease type 2Uncertain significance
(Sep 16, 2022)
criteria provided, single submitter
92.
GRCh37:
Chr16:70287206
GRCh38:
Chr16:70253303
AARS1A896TCharcot-Marie-Tooth disease type 2Uncertain significance
(Sep 23, 2022)
criteria provided, single submitter
93.
GRCh37:
Chr16:70287211
GRCh38:
Chr16:70253308
AARS1N894SInborn genetic diseases, Charcot-Marie-Tooth disease type 2Conflicting interpretations of pathogenicity
(Oct 29, 2022)
criteria provided, conflicting interpretations
94.
GRCh37:
Chr16:70287215
GRCh38:
Chr16:70253312
AARS1D893Nnot providedUncertain significance
(May 22, 2012)
no assertion criteria provided
95.
GRCh37:
Chr16:70287219
GRCh38:
Chr16:70253316
AARS1Charcot-Marie-Tooth disease type 2Likely benign
(Aug 22, 2022)
criteria provided, single submitter
96.
GRCh37:
Chr16:70287220
GRCh38:
Chr16:70253317
AARS1T891MInborn genetic diseasesUncertain significance
(Oct 31, 2019)
criteria provided, single submitter
97.
GRCh37:
Chr16:70287227
GRCh38:
Chr16:70253324
AARS1L889FCharcot-Marie-Tooth disease type 2Uncertain significance
(Sep 2, 2021)
criteria provided, single submitter
98.
GRCh37:
Chr16:70287228
GRCh38:
Chr16:70253325
AARS1M888ICharcot-Marie-Tooth disease type 2Uncertain significance
(Mar 31, 2022)
criteria provided, single submitter
99.
GRCh37:
Chr16:70287230
GRCh38:
Chr16:70253327
AARS1M888Lnot providedUncertain significance
(Mar 12, 2020)
criteria provided, single submitter
100.
GRCh37:
Chr16:70287239
GRCh38:
Chr16:70253336
AARS1T885ACharcot-Marie-Tooth disease type 2Uncertain significance
(Jun 9, 2022)
criteria provided, single submitter
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