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Did you mean LMLN as a gene symbol? Search ClinVar for LMLN

See LMLN leishmanolysin like peptidase in the Gene database

Search results

Items: 68

  • The following term was not found in ClinVar: Asn250Asn.
VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review statusAccession
1.
GRCh37:
Chr3:103145726-197837049
GRCh38:
Chr3:103426882-198110178
MIR544B, MIR3137, LINC00881, MIR3919, IQCJ-SCHIP1, LINC01208, LINC00578, LINC02053, LINC00888, LINC02036, MORC1-AS1, NECTIN3-AS1, LINC01279, LINC00901, IGSF11-AS1, MYLK-AS1, CFAP100-DT, TMCC1-DT, MELTF-AS1, DLG1-AS1, LINC02000, LINC01210, COPB2-DT, TMEM44-AS1, LOC100507389, LINC01968, LINC02032, ARHGEF26-AS1, STRIT1, LINC02082, NPHP3-ACAD11, ISY1-RAB43, TM4SF19-DYNLT2B, MIR4448, MIR4445, MIR4796, MIR4797, MIR4788, MIR548AB, MIR4789, MIR4446, MIR4447, LINC00501, MIR5002, MIR5186, MIR5092, MIR5704, MIR5682, MIR5588, MIR548AQ, LINC00903, ALDH1L1-AS2, NAALADL2-AS3, LPP-AS1, MYLK-AS2, OPA1-AS1, HLTF-AS1, LMLN-AS1, ABCC5-AS1, FGF12-AS1, FGF12-AS2, FGF12-AS3, NCBP2-AS1, NLGN1-AS1, KLHL6-AS1, TPRG1-AS2, CFAP44-AS1, UBXN7-AS1, PLCH1-AS1, PLCH1-AS2, TPRG1-AS1, LINC01840, KCNAB1-AS2, KCNAB1-AS1, RUVBL1-AS1, TM4SF1-AS1, ADIPOQ-AS1, YEATS2-AS1, PLCXD2-AS1, ZBTB20-AS4, B4GALT4-AS1, ALDH1L1-AS1, TM4SF19-AS1, ATP13A5-AS1, TMEM212-AS1, NAALADL2-AS2, NAALADL2-AS1, ARHGAP31-AS1, LINC01014, IQCJ-SCHIP1-AS1, XXYLT1-AS1, SLC9A9-AS1, MLF1-DT, LINC01206, LINC02067, XXYLT1-AS2, LSAMP-AS1, LOC101926968, LINC02049, LINC02614, LINC02016, LINC01471, GATA2-AS1, TMEM108-AS1, NCK1-DT, CLSTN2-AS1, PAQR9-AS1, LINC02010, LINC01213, LINC01214, ERICH6-AS1, LOC101928105, AADACL2-AS1, LOC101928166, LINC01487, IL12A-AS1, LINC02023, SLC7A14-AS1, LINC01209, LOC101928739, PEX5L-AS2, TTC14-DT, LOC101928882, LINC02069, LOC101929106, LOC101929130, P3H2-AS1, ATP13A4-AS1, LINC02037, LOC101929579, LINC01990, LINC01215, LINC02042, LINC01983, LINC02044, ZBTB20-AS5, LINC01063, MIR6083, MIR6826, MIR6828, MIR7110, MIR7976, MIR7977, MIR6829, MIR6825, MIR8076, MIR6827, WDR5B-DT, LINC02015, LOC102724604, LINC02031, LINC02043, LINCR-0002, LINC01391, LINC01322, LINC01327, LINC01324, ZBTB20-AS3, KCNMB2-AS1, LOC105374042, LINC02024, LOC105374060, LINC02021, LINC02014, LINC02004, LINC02045, LINC02046, LINC02066, LINC02006, LINC02029, LOC105374194, LINC01997, MECOM-AS1, LINC02068, LINC01995, ATP11B-DT, EIF2B5-DT, LINC02054, LINC01839, LINC02041, LINC01991, LINC02013, LINC02038, LINC02048, LINC01972, LOC105374297, LOC105374312, LOC105374313, HTR3E-AS1, OSTN-AS1, LOC106660625, LOC107133517, RER, LINC01998, IL20RB-AS1, LOC107986163, LINC02020, LOC108004531, LOC108004532, LOC108192211, LOC108281117, LOC108281160, LOC108281177, SOX2-SRR2, LOC108449887, LOC108644431, SNORA63D, SNORA63B, SNORA63E, SNORD155, LNCSRLR, LOC110120606, LOC110120612, LOC110120613, LOC110120614, LOC110120615, LOC110120631, LOC110120632, LOC110120723, LOC110120724, LOC110120732, LOC110120733, LOC110120734, LOC110120755, LOC110120785, LOC110120973, LOC110120993, LOC110121014, LOC110121026, LOC110121033, LOC110121064, LOC110121069, LOC110121092, LOC110121102, LOC110121110, LOC110121137, LOC110121144, LOC110121146, LOC110121175, LOC110121187, LOC110121239, LOC110121244, EEF1AKMT4, UC.134, EEF1AKMT4-ECE2, LOC110806306, LOC111162620, LOC111162621, LOC111242783, LOC111242785, LOC111255649, LOC111365173, LOC111365195, LOC111365202, LOC111413008, LOC111464993, LOC111556160, LOC111562374, LOC111828514, LOC111828515, TBILA, LOC112848341, LOC112848343, LOC112848344, LOC112872290, LOC112872291, LOC112872292, LOC112872293, LOC112872294, LOC112872295, LOC112872296, LOC112872297, LOC112872298, LOC112872299, LOC112872300, LOC112872301, LOC112872302, LOC112872303, LOC112872304, LOC112903835, LOC112903836, LOC112903837, LOC112903838, LOC112903839, LOC112903840, LOC112903842, LOC112935896, LOC112935897, LOC112935898, LOC112935899, LOC112935900, LOC112935901, LOC112935904, LOC112935905, LOC112935906, LOC112935907, LOC112935908, LOC112935909, LOC112935910, LOC112935911, LOC112935912, LOC112935913, LOC112935914, LOC112935917, LOC112935918, LOC112935919, LOC112935920, LOC112935921, LOC112935922, LOC112935923, LOC112935924, LOC112935925, LOC112935926, MIR9900, MIR12124, MIR6529, LOC114004375, LOC114004376, LOC114004377, LOC114827819, LOC114827824, LOC114827826, LOC114827843, LOC115995516, LOC115995517, LOC115995518, LOC115995519, LOC115995520, LOC115995521, LOC115995522, LOC115995523, LOC115995524, LOC115995525, LOC115995526, LOC115995527, LOC115995528, LOC115995529, LOC115995530, LOC115995531, LOC115995532, LOC115995533, LOC115995534, LOC115995535, LOC115995536, LOC115995537, LOC115995538, LOC117011629, LOC117038769, LOC117038770, LOC117038771, LOC117038772, LOC117038773, LOC117038774, LOC121009683, LOC121009684, LOC121009685, LOC121045485, LOC121045486, LOC121048709, LOC121048710, LOC121048711, LOC121048712, LOC121048713, LOC121048714, LOC121048715, LOC121048716, LOC121048717, LOC121048718, LOC121048719, LOC121048720, LOC121048721, LOC121048722, LOC121048723, LOC121048724, LOC121048725, LOC121048726, LOC121048727, LOC121048728, LOC121048729, LOC121048730, LOC121048731, LOC121048732, LOC121048733, LOC121048734, LOC121048735, LOC121048736, MUC20, HACD2, TIGIT, AADAC, ACP3, ACTL6A, ADCY5, ADPRH, AGTR1, AHSG, ALCAM, APOD, ATP1B3, ATP6V1A, ATR, BCHE, BCL6, BDH1, FOXL2, CASR, CBLB, CD80, CD86, CD47, AP2M1, CLCN2, CP, CPA3, CPB1, CPN2, CRYGS, CSTA, DGKG, DLG1, DRD3, DVL3, ECT2, EHHADH, EIF4A2, EIF4G1, EPHB1, EPHB3, ETV5, MECOM, FGF12, GAP43, GATA2, GHSR, GOLGB1, GP5, GP9, GSK3B, GTF2E1, GYG1, HCLS1, HGD, HRG, HES1, IL1RAP, IL12A, ITGB5, KNG1, KPNA1, KPNA4, LPP, LSAMP, TM4SF1, MBNL1, MCM2, MELTF, MLF1, MME, CD200, MUC4, MYLK, NCK1, NDUFB4, NDUFB5, OPA1, CLDN11, P2RY1, PAK2, PCCB, PCYT1A, PFN2, SERPINI1, SERPINI2, PIK3CA, PIK3CB, PLD1, PLOD2, PLS1, PLSCR1, PLXNA1, POLR2H, PPP1R2, PPP2R3A, PRKCI, MASP1, PSMD2, PTX3, RAP2B, RARRES1, RASA2, RBP1, RBP2, RFC4, RHO, SNORA63, RPL35A, RPN1, RYK, TRA2B, SHOX2, SI, SIAH2, ST6GAL1, SKIL, SLC2A2, SLC15A2, SLCO2A1, HLTF, SOX2, SSR3, SST, TERC, TF, TFDP2, TFRC, THPO, SEC62, TM4SF4, TRH, TRPC1, UPK1B, UMPS, CLRN1, ZIC1, CNBP, ZNF80, ZNF148, RAB7A, KCNAB1, FXR1, SOX14, BFSP2, RUVBL1, TP63, CHRD, B4GALT4, B3GALNT1, SNX4, TNFSF10, GMPS, NR1I2, EIF2B5, MBD4, H1-10, USP13, KALRN, CLDN1, MAP3K13, SLC33A1, COPB2, ADIPOQ, CHST2, STXBP5L, RNF7, GUCA1C, IQCB1, DZIP3, RUBCN, ECE2, TSC22D2, P2RY14, SMC4, ABCC5, COX17, TNK2, ALG3, CD96, KCNMB2, STAG1, IGF2BP2, CLDN16, POLQ, ALDH1L1, PDIA5, TOPBP1, HHLA2, FSTL1, MRPL3, PDCD10, RNF13, MGLL, MRAS, COPG1, SLITRK3, NLGN1, NCBP2, MYH15, PLCH1, TMCC1, TNIK, MCF2L2, PLXND1, ATP11B, DNAJC13, U2SURP, VPS8, LINC01565, ACAP2, ANAPC13, ARMC8, NEPRO, WWTR1, NECTIN3, TIPARP, UBXN7, ARHGEF26, ZBTB20, FAM162A, PCOLCE2, SEC22A, GPR160, FETUB, NPHP3, ATP2C1, LAMP3, KCNMB3, MORC1, SERP1, GOLIM4, ACAD9, ASTE1, KLF15, GTPBP8, TAGLN3, GPR171, SEC61A1, SCHIP1, PIK3R4, PODXL2, TRAT1, NMD3, COMMD2, A4GNT, DBR1, ZNF639, CLDN18, TIMMDC1, RSRC1, PLA1A, AMOTL2, ACKR4, PEX5L, RAB6B, SELENOT, FBXO40, DNAJB11, P2RY13, IL20RB, GPR87, DCUN1D1, SEMA5B, XRN1, WDR5B, PARP14, GRAMD1C, ROPN1, KLHL24, SIDT1, SLC41A3, PIGX, SLC35A5, IFT57, MSL2, TBCCD1, FAIM, SLC25A36, DPPA4, P3H2, TMEM39A, ABCF3, LSG1, ABHD10, PARL, CDV3, MFN1, YEATS2, IFT122, CFAP44, EAF2, MYNN, EIF5A2, MUC13, SUCNR1, MCCC1, LXN, HMCES, MRPS22, POGLUT1, BBX, CCNL1, PLSCR2, PLSCR4, PLAAT1, MRPL47, ISY1, HEG1, CFAP92, ARHGAP31, NCEH1, IFT80, CCDC191, CIP2A, SLC7A14, SRPRB, SENP2, GNB4, BPESC1, EEFSEC, CLSTN2, POPDC2, RTP4, MAGEF1, ZMAT3, ATG3, MFSD1, CCDC14, FNDC3B, P2RY12, TMEM108, ZXDC, ZBED2, ATP13A3, HSPBAP1, C3orf52, VEPH1, QTRT2, TBL1XR1, ZBBX, LRRC31, EFCC1, NEK11, UBA5, MAP6D1, PHC3, C3orf36, ARL14, NAA50, PIGZ, CEP63, CEP70, ABTB1, SLC35G2, PARP9, ESYT3, SPATA16, EIF2A, B3GNT5, ZIC4, ACAD11, IQCG, ATP13A4, FYTTD1, CHCHD6, HPS3, ACTRT3, SLC12A8, RETNLB, CCDC54, MGC2889, LRCH3, SLC49A4, CEP19, BFSP2-AS1, GFM1, LMLN, KLHL6, CFAP91, PHLDB2, VWA5B2, LOC90246, EFCAB12, TMEM41A, BOC, SPSB4, PXYLP1, TMEM44, CAMK2N2, TXNRD3, OSBPL11, LRRC58, TM4SF19, TM4SF18, RPL39L, MED12L, CLRN1-AS1, CPNE4, MIX23, DNAJC19, OTOL1, FAM131A, CD200R1, ZDHHC19, LRRC15, FAM43A, TPRA1, UROC1, ERICH6, NUDT16, COL6A6, GRK7, TMEM207, RTP1, H1-8, PISRT1, TTC14, DTX3L, LINC00635, PPM1L, WDR49, LRRC34, DPPA2, CCDC80, BTLA, MB21D2, XXYLT1, ROPN1B, C3orf22, LINC02877, CCDC50, PYDC2, SPICE1, NCBP2AS2, IGSF11, TEX55, PARP15, SPTSSB, DNAJB8, GPR156, RNF168, CHST13, KBTBD12, DHX36, HTR3C, DZIP1L, LIPH, HTR3D, RPL22L1, SLC51A, FBXO45, DIPK2A, SENP5, USF3, ZBTB38, LINC02052, NAALADL2, ZDHHC23, DYNLT2B, SMCO1, COL6A5, GK5, PLCXD2, GCSAM, UTS2B, TUSC7, SLC9A9, LINC00636, DNAJB8-AS1, HTR3E, RABL3, C3orf56, IGSF10, C3orf33, SLC9C1, C3orf70, TPRG1, LINC02028, ILDR1, TRIM59, TRIM42, RAB43, CCDC39, KY, NUDT16-DT, LINC00880, EHHADH-AS1, LPP-AS2, H1-10-AS1, DUBR, LRRIQ4, SAMD7, AADACL2, GPR149, TMPRSS7, CD200R1L, PAQR9, RTP2, OSTN, ATP13A5, SOX2-OT, NME9, WDR53, CFAP100, NPHP3-AS1, NMNAT3, NRROS, PRR23B, PRR23C, PLSCR5, ANKUB1, LEKR1, TMEM212, C3orf85, LINC01205, FOXL2NB, MBNL1-AS1, C3orf80, LINC01994, FLJ42393, LINC00884, LINC00885, MIR15B, MIR16-2, MIR198, MIR28, LOC440982, MIR570HG, ARGFX, SNORD2, SNORA4, ALG1L2, TXNRD3NB, IGF2BP2-AS1, LINC02618, LOC646903, MINDY4B, LINC01192, GMNC, LINC02026, IQCJ, SCARNA7, LINC00488, SNORA7B, SNORA58, SNORA81, SNORD66, MIR551B, MIR567, MIR568, MIR569, MIR570, PRR23A, LINC00886, LINC01100, MIR922, MIR944, WWTR1-AS1, TNK2-AS1, CD200R1L-AS1, LINC02012, LINC02035, LRRC58-DT, ZBTB20-AS1, LINC00887, LOC100131635, SNAR-I, TRIM59-IFT80, MIR1224, TRC-GCA6-1, TRC-GCA9-1, TRV-AAC1-1, TIPARP-AS1, LOC100287290, LOC100289361, MIR1248, MIR1263, MIR548I1, LINC00882, PRR20G
See casesPathogenic
(Jan 5, 2011)
no assertion criteria providedVCV000145614
2.
GRCh37:
Chr3:147239679-197823436
GRCh38:
Chr3:147521892-198096565
AADAC, ACTL6A, AGTR1, AHSG, APOD, BCHE, BCL6, BDH1, AP2M1, CLCN2, CP, CPA3, CPB1, CPN2, CRYGS, DGKG, DLG1, DVL3, ECT2, EHHADH, EIF4A2, EIF4G1, EPHB3, ETV5, MECOM, FGF12, GHSR, GP5, GYG1, HRG, HES1, IL1RAP, IL12A, KNG1, KPNA4, LPP, TM4SF1, MBNL1, MELTF, MLF1, MME, MUC4, NDUFB5, OPA1, CLDN11, P2RY1, PAK2, PCYT1A, PFN2, SERPINI1, SERPINI2, PIK3CA, PLD1, POLR2H, PPP1R2, PRKCI, MASP1, PSMD2, PTX3, RAP2B, RARRES1, RFC4, SNORA63, RPL35A, TRA2B, SHOX2, SI, SIAH2, ST6GAL1, SKIL, SLC2A2, HLTF, SOX2, SSR3, SST, TERC, TFRC, THPO, SEC62, TM4SF4, CLRN1, KCNAB1, FXR1, TP63, CHRD, B3GALNT1, TNFSF10, GMPS, EIF2B5, USP13, CLDN1, MAP3K13, SLC33A1, ADIPOQ, RUBCN, ECE2, TSC22D2, P2RY14, SMC4, ABCC5, TNK2, ALG3, KCNMB2, IGF2BP2, CLDN16, PDCD10, RNF13, SLITRK3, NLGN1, NCBP2, PLCH1, TNIK, MCF2L2, ATP11B, VPS8, ACAP2, WWTR1, TIPARP, UBXN7, ARHGEF26, GPR160, FETUB, LAMP3, KCNMB3, SERP1, GOLIM4, GPR171, SCHIP1, NMD3, COMMD2, ZNF639, RSRC1, PEX5L, SELENOT, DNAJB11, P2RY13, GPR87, DCUN1D1, KLHL24, PIGX, TBCCD1, P3H2, ABCF3, LSG1, PARL, MFN1, YEATS2, MYNN, EIF5A2, SUCNR1, MCCC1, LXN, CCNL1, PLAAT1, MRPL47, NCEH1, IFT80, SLC7A14, SENP2, GNB4, RTP4, MAGEF1, ZMAT3, MFSD1, FNDC3B, P2RY12, ATP13A3, VEPH1, TBL1XR1, ZBBX, LRRC31, MAP6D1, PHC3, ARL14, PIGZ, SPATA16, EIF2A, B3GNT5, IQCG, ATP13A4, FYTTD1, HPS3, ACTRT3, MGC2889, LRCH3, CEP19, GFM1, LMLN, KLHL6, VWA5B2, TMEM41A, TMEM44, CAMK2N2, TM4SF19, TM4SF18, RPL39L, MED12L, CLRN1-AS1, DNAJC19, OTOL1, FAM131A, ZDHHC19, LRRC15, FAM43A, ERICH6, TMEM207, RTP1, TTC14, PPM1L, WDR49, LRRC34, MB21D2, XXYLT1, LINC02877, CCDC50, PYDC2, NCBP2AS2, SPTSSB, RNF168, DHX36, HTR3C, LIPH, HTR3D, RPL22L1, SLC51A, FBXO45, MUC20, SENP5, LINC02052, NAALADL2, DYNLT2B, SMCO1, UTS2B, HTR3E, IGSF10, C3orf33, C3orf70, TPRG1, LINC02028, TRIM59, CCDC39, LINC00880, EHHADH-AS1, LPP-AS2, LRRIQ4, SAMD7, AADACL2, GPR149, RTP2, OSTN, ATP13A5, SOX2-OT, WDR53, NRROS, ANKUB1, LEKR1, TMEM212, MBNL1-AS1, C3orf80, LINC01994, FLJ42393, LINC00884, LINC00885, MIR15B, MIR16-2, MIR28, MIR570HG, SNORD2, SNORA4, IGF2BP2-AS1, LOC646903, MINDY4B, LINC01192, GMNC, LINC02026, IQCJ, SCARNA7, SNORA81, SNORD66, MIR551B, MIR569, MIR570, LINC00886, LINC01100, MIR922, MIR944, WWTR1-AS1, TNK2-AS1, LINC02012, LINC00887, LOC100131635, SNAR-I, TRIM59-IFT80, MIR1224, TRV-AAC1-1, TIPARP-AS1, LOC100287290, MIR1248, MIR1263, MIR3137, LINC00881, MIR3919, IQCJ-SCHIP1, LINC01208, LINC00578, LINC02053, LINC00888, LINC02036, MELTF-AS1, DLG1-AS1, TMEM44-AS1, LINC01968, LINC02032, ARHGEF26-AS1, STRIT1, LINC02082, TM4SF19-DYNLT2B, MIR4448, MIR4797, MIR4789, LINC00501, MIR5186, MIR5588, MIR548AQ, NAALADL2-AS3, LPP-AS1, OPA1-AS1, HLTF-AS1, LMLN-AS1, ABCC5-AS1, FGF12-AS1, FGF12-AS2, FGF12-AS3, NCBP2-AS1, NLGN1-AS1, KLHL6-AS1, TPRG1-AS2, UBXN7-AS1, PLCH1-AS1, PLCH1-AS2, TPRG1-AS1, LINC01840, KCNAB1-AS2, KCNAB1-AS1, TM4SF1-AS1, ADIPOQ-AS1, YEATS2-AS1, TM4SF19-AS1, ATP13A5-AS1, TMEM212-AS1, NAALADL2-AS2, NAALADL2-AS1, LINC01014, IQCJ-SCHIP1-AS1, XXYLT1-AS1, MLF1-DT, LINC01206, LINC02067, XXYLT1-AS2, LINC01213, LINC01214, ERICH6-AS1, LOC101928105, AADACL2-AS1, LOC101928166, LINC01487, IL12A-AS1, LINC02023, SLC7A14-AS1, LINC01209, LOC101928739, PEX5L-AS2, TTC14-DT, LOC101928882, LINC02069, LOC101929106, LOC101929130, P3H2-AS1, ATP13A4-AS1, LINC02037, LINC01983, LINC01063, MIR6828, MIR7977, MIR6829, LINC02015, LOC102724604, LINC02031, LINC02043, LINCR-0002, LINC01322, LINC01327, LINC01324, KCNMB2-AS1, LINC02045, LINC02046, LINC02066, LINC02006, LINC02029, LOC105374194, LINC01997, MECOM-AS1, LINC02068, LINC01995, ATP11B-DT, EIF2B5-DT, LINC02054, LINC01839, LINC02041, LINC01991, LINC02013, LINC02038, LINC02048, LINC01972, LOC105374297, LOC105374313, HTR3E-AS1, OSTN-AS1, LOC106660625, LOC107133517, LINC01998, LOC107986163, LINC02020, LOC108281160, LOC108281177, SOX2-SRR2, LOC108449887, SNORA63D, SNORA63B, SNORA63E, LOC110120606, LOC110120632, LOC110120723, LOC110120724, LOC110120733, LOC110120734, LOC110120755, LOC110120993, LOC110121014, LOC110121026, LOC110121033, LOC110121064, LOC110121069, LOC110121092, LOC110121102, LOC110121110, LOC110121137, LOC110121144, LOC110121146, LOC110121239, EEF1AKMT4, UC.134, EEF1AKMT4-ECE2, LOC110806306, LOC111162620, LOC111162621, LOC111242783, LOC111242785, LOC111365195, LOC111413008, LOC111464993, LOC111828515, LOC112935896, LOC112935897, LOC112935898, LOC112935899, LOC112935900, LOC112935901, LOC112935904, LOC112935905, LOC112935906, LOC112935907, LOC112935908, LOC112935909, LOC112935910, LOC112935911, LOC112935912, LOC112935913, LOC112935914, LOC112935917, LOC112935918, LOC112935919, LOC112935920, LOC112935921, LOC112935922, LOC112935923, LOC112935924, LOC112935925, LOC112935926, LOC114004375, LOC114004376, LOC114004377, LOC114827819, LOC114827824, LOC114827826, LOC114827843, LOC115995527, LOC115995528, LOC115995529, LOC115995530, LOC115995531, LOC115995532, LOC115995533, LOC115995534, LOC115995535, LOC115995536, LOC115995537, LOC115995538, LOC121048717, LOC121048718, LOC121048719, LOC121048720, LOC121048721, LOC121048722, LOC121048723, LOC121048724, LOC121048725, LOC121048726, LOC121048727, LOC121048728, LOC121048729, LOC121048730, LOC121048731, LOC121048732, LOC121048733, LOC121048734, LOC121048735, LOC121048736
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitterVCV000057983
3.
GRCh37:
Chr3:151818301-197845254
GRCh38:
Chr3:152100512-198118383
ACTL6A, AHSG, APOD, BCHE, BCL6, BDH1, AP2M1, CLCN2, CPN2, CRYGS, DGKG, DLG1, DVL3, ECT2, EHHADH, EIF4A2, EIF4G1, EPHB3, ETV5, MECOM, FGF12, GHSR, GP5, HRG, HES1, IL1RAP, IL12A, KNG1, KPNA4, LPP, MBNL1, MELTF, MLF1, MME, MUC4, NDUFB5, OPA1, CLDN11, P2RY1, PAK2, PCYT1A, SERPINI1, SERPINI2, PIK3CA, PLD1, POLR2H, PPP1R2, PRKCI, MASP1, PSMD2, PTX3, RAP2B, RARRES1, RFC4, SNORA63, RPL35A, TRA2B, SHOX2, SI, ST6GAL1, SKIL, SLC2A2, SOX2, SSR3, SST, TERC, TFRC, THPO, SEC62, KCNAB1, FXR1, TP63, CHRD, B3GALNT1, TNFSF10, GMPS, EIF2B5, USP13, CLDN1, MAP3K13, SLC33A1, ADIPOQ, RUBCN, ECE2, SMC4, ABCC5, TNK2, ALG3, KCNMB2, IGF2BP2, CLDN16, PDCD10, SLITRK3, NLGN1, NCBP2, PLCH1, TNIK, MCF2L2, ATP11B, VPS8, ACAP2, TIPARP, UBXN7, ARHGEF26, GPR160, FETUB, LAMP3, KCNMB3, GOLIM4, SCHIP1, NMD3, ZNF639, RSRC1, PEX5L, DNAJB11, DCUN1D1, KLHL24, PIGX, TBCCD1, P3H2, ABCF3, LSG1, PARL, MFN1, YEATS2, MYNN, EIF5A2, MCCC1, LXN, CCNL1, PLAAT1, MRPL47, NCEH1, IFT80, SLC7A14, SENP2, GNB4, RTP4, MAGEF1, ZMAT3, MFSD1, FNDC3B, ATP13A3, VEPH1, TBL1XR1, ZBBX, LRRC31, MAP6D1, PHC3, ARL14, PIGZ, SPATA16, B3GNT5, IQCG, ATP13A4, FYTTD1, ACTRT3, MGC2889, LRCH3, CEP19, GFM1, LMLN, KLHL6, VWA5B2, TMEM41A, TMEM44, CAMK2N2, TM4SF19, RPL39L, DNAJC19, OTOL1, FAM131A, ZDHHC19, LRRC15, FAM43A, TMEM207, RTP1, TTC14, PPM1L, WDR49, LRRC34, MB21D2, XXYLT1, LINC02877, CCDC50, PYDC2, NCBP2AS2, SPTSSB, RNF168, DHX36, HTR3C, LIPH, HTR3D, RPL22L1, SLC51A, FBXO45, MUC20, SENP5, LINC02052, NAALADL2, DYNLT2B, SMCO1, UTS2B, HTR3E, C3orf33, C3orf70, TPRG1, LINC02028, TRIM59, CCDC39, LINC00880, EHHADH-AS1, LPP-AS2, LRRIQ4, SAMD7, GPR149, RTP2, OSTN, ATP13A5, SOX2-OT, WDR53, NRROS, LEKR1, TMEM212, MBNL1-AS1, C3orf80, LINC01994, FLJ42393, LINC00884, LINC00885, MIR15B, MIR16-2, MIR28, MIR570HG, SNORD2, SNORA4, IGF2BP2-AS1, LINC01192, GMNC, LINC02026, IQCJ, SCARNA7, SNORA81, SNORD66, MIR551B, MIR569, MIR570, LINC00886, LINC01100, MIR922, MIR944, TNK2-AS1, LINC02012, LINC00887, LOC100131635, SNAR-I, TRIM59-IFT80, MIR1224, TRV-AAC1-1, TIPARP-AS1, LOC100287290, MIR1248, MIR1263, MIR3137, LINC00881, MIR3919, IQCJ-SCHIP1, LINC01208, LINC00578, LINC02053, LINC00888, LINC02036, MELTF-AS1, DLG1-AS1, TMEM44-AS1, LINC01968, ARHGEF26-AS1, STRIT1, LINC02082, TM4SF19-DYNLT2B, MIR4448, MIR4797, MIR4789, LINC00501, MIR5588, MIR548AQ, NAALADL2-AS3, LPP-AS1, OPA1-AS1, LMLN-AS1, ABCC5-AS1, FGF12-AS1, FGF12-AS2, FGF12-AS3, NCBP2-AS1, NLGN1-AS1, KLHL6-AS1, TPRG1-AS2, UBXN7-AS1, PLCH1-AS1, PLCH1-AS2, TPRG1-AS1, LINC01840, KCNAB1-AS2, KCNAB1-AS1, ADIPOQ-AS1, YEATS2-AS1, TM4SF19-AS1, ATP13A5-AS1, TMEM212-AS1, NAALADL2-AS2, NAALADL2-AS1, LINC01014, IQCJ-SCHIP1-AS1, XXYLT1-AS1, MLF1-DT, LINC01206, LINC02067, XXYLT1-AS2, LOC101928166, LINC01487, IL12A-AS1, LINC02023, SLC7A14-AS1, LINC01209, LOC101928739, PEX5L-AS2, TTC14-DT, LOC101928882, LINC02069, LOC101929106, LOC101929130, P3H2-AS1, ATP13A4-AS1, LINC02037, LINC01983, LINC01063, MIR6828, MIR7977, MIR6829, LINC02015, LOC102724604, LINC02031, LINC02043, LINCR-0002, LINC01322, LINC01327, LINC01324, KCNMB2-AS1, LINC02006, LINC02029, LOC105374194, LINC01997, MECOM-AS1, LINC02068, LINC01995, ATP11B-DT, EIF2B5-DT, LINC02054, LINC01839, LINC02041, LINC01991, LINC02013, LINC02038, LINC02048, LINC01972, LOC108281160, LOC108281177, LOC105374297, HTR3E-AS1, OSTN-AS1, LOC106660625, LOC107133517, LOC107986163, LINC02020, SOX2-SRR2, LOC108449887, SNORA63D, SNORA63B, SNORA63E, LOC110120606, LOC110120632, LOC110120723, LOC110120724, LOC110120734, LOC110120755, LOC110121064, LOC110121069, LOC110121092, LOC110121102, LOC110121110, LOC110121137, LOC110121144, LOC110121239, EEF1AKMT4, UC.134, EEF1AKMT4-ECE2, LOC110806306, LOC111162620, LOC111162621, LOC111242783, LOC111242785, LOC111365195, LOC111413008, LOC111828515, LOC112935899, LOC112935900, LOC112935901, LOC112935904, LOC112935905, LOC112935906, LOC112935907, LOC112935908, LOC112935909, LOC112935910, LOC112935911, LOC112935912, LOC112935913, LOC112935914, LOC112935917, LOC112935918, LOC112935919, LOC112935920, LOC112935921, LOC112935922, LOC112935923, LOC112935924, LOC112935925, LOC112935926, LOC114004375, LOC114004376, LOC114004377, LOC114827819, LOC114827824, LOC114827826, LOC114827843, LOC115995529, LOC115995530, LOC115995531, LOC115995532, LOC115995533, LOC115995534, LOC115995535, LOC115995536, LOC115995537, LOC115995538, LOC121048720, LOC121048721, LOC121048722, LOC121048723, LOC121048724, LOC121048725, LOC121048726, LOC121048727, LOC121048728, LOC121048729, LOC121048730, LOC121048731, LOC121048732, LOC121048733, LOC121048734, LOC121048735, LOC121048736
See casesPathogenic
(Jun 18, 2012)
no assertion criteria providedVCV000150609
4.
GRCh37:
Chr3:155836230-197851986
GRCh38:
Chr3:156118441-198125115
ACTL6A, AHSG, APOD, BCHE, BCL6, BDH1, AP2M1, CLCN2, CPN2, CRYGS, DGKG, DLG1, DVL3, ECT2, EHHADH, EIF4A2, EIF4G1, EPHB3, ETV5, MECOM, FGF12, GHSR, GP5, HRG, HES1, IL1RAP, IL12A, KNG1, KPNA4, LPP, MELTF, MLF1, MUC4, NDUFB5, OPA1, CLDN11, PAK2, PCYT1A, SERPINI1, SERPINI2, PIK3CA, PLD1, POLR2H, PPP1R2, PRKCI, MASP1, PSMD2, PTX3, RARRES1, RFC4, SNORA63, RPL35A, TRA2B, SHOX2, SI, ST6GAL1, SKIL, SLC2A2, SOX2, SSR3, SST, TERC, TFRC, THPO, SEC62, KCNAB1, FXR1, TP63, CHRD, B3GALNT1, TNFSF10, EIF2B5, USP13, CLDN1, MAP3K13, ADIPOQ, RUBCN, ECE2, SMC4, ABCC5, TNK2, ALG3, KCNMB2, IGF2BP2, CLDN16, PDCD10, SLITRK3, NLGN1, NCBP2, TNIK, MCF2L2, ATP11B, VPS8, ACAP2, TIPARP, UBXN7, GPR160, FETUB, LAMP3, KCNMB3, GOLIM4, SCHIP1, NMD3, ZNF639, RSRC1, PEX5L, DNAJB11, DCUN1D1, KLHL24, PIGX, TBCCD1, P3H2, ABCF3, LSG1, PARL, MFN1, YEATS2, MYNN, EIF5A2, MCCC1, LXN, CCNL1, PLAAT1, MRPL47, NCEH1, IFT80, SLC7A14, SENP2, GNB4, RTP4, MAGEF1, ZMAT3, MFSD1, FNDC3B, ATP13A3, VEPH1, TBL1XR1, ZBBX, LRRC31, MAP6D1, PHC3, ARL14, PIGZ, SPATA16, B3GNT5, IQCG, ATP13A4, FYTTD1, ACTRT3, MGC2889, LRCH3, CEP19, GFM1, LMLN, KLHL6, VWA5B2, TMEM41A, TMEM44, CAMK2N2, TM4SF19, RPL39L, DNAJC19, OTOL1, FAM131A, ZDHHC19, LRRC15, FAM43A, TMEM207, RTP1, TTC14, PPM1L, WDR49, LRRC34, MB21D2, XXYLT1, CCDC50, PYDC2, NCBP2AS2, SPTSSB, RNF168, HTR3C, LIPH, HTR3D, RPL22L1, SLC51A, FBXO45, MUC20, SENP5, LINC02052, NAALADL2, DYNLT2B, SMCO1, UTS2B, HTR3E, C3orf70, TPRG1, LINC02028, TRIM59, CCDC39, LINC00880, EHHADH-AS1, LPP-AS2, LRRIQ4, SAMD7, RTP2, OSTN, ATP13A5, SOX2-OT, WDR53, NRROS, LEKR1, TMEM212, C3orf80, LINC01994, FLJ42393, LINC00884, LINC00885, MIR15B, MIR16-2, MIR28, MIR570HG, SNORD2, SNORA4, IGF2BP2-AS1, LINC01192, GMNC, LINC02026, IQCJ, SCARNA7, SNORA81, SNORD66, MIR551B, MIR569, MIR570, LINC00886, LINC01100, MIR922, MIR944, TNK2-AS1, LINC02012, LINC00887, LOC100131635, SNAR-I, TRIM59-IFT80, MIR1224, TRV-AAC1-1, TIPARP-AS1, LOC100287290, MIR1248, MIR1263, MIR3137, LINC00881, MIR3919, IQCJ-SCHIP1, LINC01208, LINC00578, LINC02053, LINC00888, LINC02036, MELTF-AS1, DLG1-AS1, TMEM44-AS1, LINC01968, LINC02082, TM4SF19-DYNLT2B, MIR4448, MIR4797, MIR4789, LINC00501, MIR5588, MIR548AQ, NAALADL2-AS3, LPP-AS1, OPA1-AS1, LMLN-AS1, ABCC5-AS1, FGF12-AS1, FGF12-AS2, FGF12-AS3, NCBP2-AS1, NLGN1-AS1, KLHL6-AS1, TPRG1-AS2, UBXN7-AS1, TPRG1-AS1, LINC01840, KCNAB1-AS2, KCNAB1-AS1, ADIPOQ-AS1, YEATS2-AS1, TM4SF19-AS1, ATP13A5-AS1, TMEM212-AS1, NAALADL2-AS2, NAALADL2-AS1, LINC01014, IQCJ-SCHIP1-AS1, XXYLT1-AS1, MLF1-DT, LINC01206, LINC02067, XXYLT1-AS2, IL12A-AS1, LINC02023, SLC7A14-AS1, LINC01209, LOC101928739, PEX5L-AS2, TTC14-DT, LOC101928882, LINC02069, LOC101929106, LOC101929130, P3H2-AS1, ATP13A4-AS1, LINC02037, LINC01983, LINC01063, MIR6828, MIR7977, MIR6829, LINC02015, LOC102724604, LINC02031, LINC02043, LINCR-0002, LINC01322, LINC01327, LINC01324, KCNMB2-AS1, LINC02029, LOC105374194, LINC01997, MECOM-AS1, LINC02068, LINC01995, ATP11B-DT, EIF2B5-DT, LINC02054, LINC01839, LINC02041, LINC01991, LINC02013, LINC02038, LINC02048, LINC01972, LOC105374297, HTR3E-AS1, OSTN-AS1, LOC106660625, LOC107133517, LOC107986163, LINC02020, LOC108281160, LOC108281177, SOX2-SRR2, LOC108449887, SNORA63D, SNORA63B, SNORA63E, LOC110120606, LOC110120632, LOC110120723, LOC110120724, LOC110120734, LOC110120755, LOC110121064, LOC110121069, LOC110121092, LOC110121102, LOC110121110, LOC110121137, LOC110121144, LOC110121239, EEF1AKMT4, UC.134, EEF1AKMT4-ECE2, LOC110806306, LOC111162620, LOC111162621, LOC111242783, LOC111242785, LOC111365195, LOC111413008, LOC111828515, LOC112935901, LOC112935904, LOC112935905, LOC112935906, LOC112935907, LOC112935908, LOC112935909, LOC112935910, LOC112935911, LOC112935912, LOC112935913, LOC112935914, LOC112935917, LOC112935918, LOC112935919, LOC112935920, LOC112935921, LOC112935922, LOC112935923, LOC112935924, LOC112935925, LOC112935926, LOC114004375, LOC114004376, LOC114004377, LOC114827819, LOC114827824, LOC114827826, LOC114827843, LOC115995530, LOC115995531, LOC115995532, LOC115995533, LOC115995534, LOC115995535, LOC115995536, LOC115995537, LOC115995538, LOC121048720, LOC121048721, LOC121048722, LOC121048723, LOC121048724, LOC121048725, LOC121048726, LOC121048727, LOC121048728, LOC121048729, LOC121048730, LOC121048731, LOC121048732, LOC121048733, LOC121048734, LOC121048735, LOC121048736
See casesPathogenic
(Mar 18, 2014)
no assertion criteria providedVCV000154213
5.
GRCh37:
Chr3:156039667-197840323
GRCh38:
Chr3:156321878-198113452
ACTL6A, AHSG, APOD, BCHE, BCL6, BDH1, AP2M1, CLCN2, CPN2, CRYGS, DGKG, DLG1, DVL3, ECT2, EHHADH, EIF4A2, EIF4G1, EPHB3, ETV5, MECOM, FGF12, GHSR, GP5, HRG, HES1, IL1RAP, IL12A, KNG1, KPNA4, LPP, MELTF, MLF1, MUC4, NDUFB5, OPA1, CLDN11, PAK2, PCYT1A, SERPINI1, SERPINI2, PIK3CA, PLD1, POLR2H, PPP1R2, PRKCI, MASP1, PSMD2, PTX3, RARRES1, RFC4, SNORA63, RPL35A, TRA2B, SHOX2, SI, ST6GAL1, SKIL, SLC2A2, SOX2, SSR3, SST, TERC, TFRC, THPO, SEC62, KCNAB1, FXR1, TP63, CHRD, B3GALNT1, TNFSF10, EIF2B5, USP13, CLDN1, MAP3K13, ADIPOQ, RUBCN, ECE2, SMC4, ABCC5, TNK2, ALG3, KCNMB2, IGF2BP2, CLDN16, PDCD10, SLITRK3, NLGN1, NCBP2, TNIK, MCF2L2, ATP11B, VPS8, ACAP2, TIPARP, UBXN7, GPR160, FETUB, LAMP3, KCNMB3, GOLIM4, SCHIP1, NMD3, ZNF639, RSRC1, PEX5L, DNAJB11, DCUN1D1, KLHL24, PIGX, TBCCD1, P3H2, ABCF3, LSG1, PARL, MFN1, YEATS2, MYNN, EIF5A2, MCCC1, LXN, CCNL1, PLAAT1, MRPL47, NCEH1, IFT80, SLC7A14, SENP2, GNB4, RTP4, MAGEF1, ZMAT3, MFSD1, FNDC3B, ATP13A3, VEPH1, TBL1XR1, ZBBX, LRRC31, MAP6D1, PHC3, ARL14, PIGZ, SPATA16, B3GNT5, IQCG, ATP13A4, FYTTD1, ACTRT3, MGC2889, LRCH3, CEP19, GFM1, LMLN, KLHL6, VWA5B2, TMEM41A, TMEM44, CAMK2N2, TM4SF19, RPL39L, DNAJC19, OTOL1, FAM131A, ZDHHC19, LRRC15, FAM43A, TMEM207, RTP1, TTC14, PPM1L, WDR49, LRRC34, MB21D2, XXYLT1, CCDC50, PYDC2, NCBP2AS2, SPTSSB, RNF168, HTR3C, LIPH, HTR3D, RPL22L1, SLC51A, FBXO45, MUC20, SENP5, LINC02052, NAALADL2, DYNLT2B, SMCO1, UTS2B, HTR3E, C3orf70, TPRG1, LINC02028, TRIM59, CCDC39, LINC00880, EHHADH-AS1, LPP-AS2, LRRIQ4, SAMD7, RTP2, OSTN, ATP13A5, SOX2-OT, WDR53, NRROS, LEKR1, TMEM212, C3orf80, LINC01994, FLJ42393, LINC00884, LINC00885, MIR15B, MIR16-2, MIR28, MIR570HG, SNORD2, SNORA4, IGF2BP2-AS1, LINC01192, GMNC, LINC02026, IQCJ, SCARNA7, SNORA81, SNORD66, MIR551B, MIR569, MIR570, LINC00886, LINC01100, MIR922, MIR944, TNK2-AS1, LINC02012, LINC00887, LOC100131635, SNAR-I, TRIM59-IFT80, MIR1224, TRV-AAC1-1, TIPARP-AS1, LOC100287290, MIR1248, MIR1263, MIR3137, LINC00881, MIR3919, IQCJ-SCHIP1, LINC01208, LINC00578, LINC02053, LINC00888, LINC02036, MELTF-AS1, DLG1-AS1, TMEM44-AS1, LINC01968, LINC02082, TM4SF19-DYNLT2B, MIR4448, MIR4797, MIR4789, LINC00501, MIR5588, MIR548AQ, NAALADL2-AS3, LPP-AS1, OPA1-AS1, LMLN-AS1, ABCC5-AS1, FGF12-AS1, FGF12-AS2, FGF12-AS3, NCBP2-AS1, NLGN1-AS1, KLHL6-AS1, TPRG1-AS2, UBXN7-AS1, TPRG1-AS1, LINC01840, KCNAB1-AS1, ADIPOQ-AS1, YEATS2-AS1, TM4SF19-AS1, ATP13A5-AS1, TMEM212-AS1, NAALADL2-AS2, NAALADL2-AS1, LINC01014, IQCJ-SCHIP1-AS1, XXYLT1-AS1, MLF1-DT, LINC01206, LINC02067, XXYLT1-AS2, IL12A-AS1, LINC02023, SLC7A14-AS1, LINC01209, LOC101928739, PEX5L-AS2, TTC14-DT, LOC101928882, LINC02069, LOC101929106, LOC101929130, P3H2-AS1, ATP13A4-AS1, LINC02037, LINC01983, LINC01063, MIR6828, MIR7977, MIR6829, LINC02015, LOC102724604, LINC02031, LINC02043, LINCR-0002, LINC01322, LINC01327, LINC01324, KCNMB2-AS1, LINC02029, LOC105374194, LINC01997, MECOM-AS1, LINC02068, LINC01995, ATP11B-DT, EIF2B5-DT, LINC02054, LINC01839, LINC02041, LINC01991, LINC02013, LINC02038, LINC02048, LINC01972, LOC105374297, HTR3E-AS1, OSTN-AS1, LOC106660625, LOC107133517, LOC107986163, LINC02020, LOC108281160, LOC108281177, SOX2-SRR2, LOC108449887, SNORA63D, SNORA63B, SNORA63E, LOC110120606, LOC110120632, LOC110120723, LOC110120724, LOC110120734, LOC110120755, LOC110121064, LOC110121069, LOC110121092, LOC110121102, LOC110121110, LOC110121137, LOC110121144, LOC110121239, EEF1AKMT4, UC.134, EEF1AKMT4-ECE2, LOC110806306, LOC111162620, LOC111162621, LOC111242783, LOC111242785, LOC111365195, LOC111413008, LOC111828515, LOC112935901, LOC112935904, LOC112935905, LOC112935906, LOC112935907, LOC112935908, LOC112935909, LOC112935910, LOC112935911, LOC112935912, LOC112935913, LOC112935914, LOC112935917, LOC112935918, LOC112935919, LOC112935920, LOC112935921, LOC112935922, LOC112935923, LOC112935924, LOC112935925, LOC112935926, LOC114004375, LOC114004376, LOC114004377, LOC114827819, LOC114827824, LOC114827826, LOC114827843, LOC115995530, LOC115995531, LOC115995532, LOC115995533, LOC115995534, LOC115995535, LOC115995536, LOC115995537, LOC115995538, LOC121048720, LOC121048721, LOC121048722, LOC121048723, LOC121048724, LOC121048725, LOC121048726, LOC121048727, LOC121048728, LOC121048729, LOC121048730, LOC121048731, LOC121048732, LOC121048733, LOC121048734, LOC121048735, LOC121048736
See casesPathogenic
(Jan 14, 2013)
no assertion criteria providedVCV000152257
6.
GRCh37:
Chr3:157011167-197861598
GRCh38:
Chr3:157293378-198134727
ACTL6A, AHSG, APOD, BCHE, BCL6, BDH1, AP2M1, CLCN2, CPN2, CRYGS, DGKG, DLG1, DVL3, ECT2, EHHADH, EIF4A2, EIF4G1, EPHB3, ETV5, MECOM, FGF12, GHSR, GP5, HRG, HES1, IL1RAP, IL12A, KNG1, KPNA4, LPP, MELTF, MLF1, MUC4, NDUFB5, OPA1, CLDN11, PAK2, PCYT1A, SERPINI1, SERPINI2, PIK3CA, PLD1, POLR2H, PPP1R2, PRKCI, MASP1, PSMD2, PTX3, RARRES1, RFC4, SNORA63, RPL35A, TRA2B, SHOX2, SI, ST6GAL1, SKIL, SLC2A2, SOX2, SST, TERC, TFRC, THPO, SEC62, FXR1, TP63, CHRD, B3GALNT1, TNFSF10, EIF2B5, USP13, CLDN1, MAP3K13, ADIPOQ, RUBCN, ECE2, SMC4, ABCC5, TNK2, ALG3, KCNMB2, IGF2BP2, CLDN16, PDCD10, SLITRK3, NLGN1, NCBP2, TNIK, MCF2L2, ATP11B, VPS8, ACAP2, UBXN7, GPR160, FETUB, LAMP3, KCNMB3, GOLIM4, SCHIP1, NMD3, ZNF639, RSRC1, PEX5L, DNAJB11, DCUN1D1, KLHL24, PIGX, TBCCD1, P3H2, ABCF3, LSG1, PARL, MFN1, YEATS2, MYNN, EIF5A2, MCCC1, LXN, PLAAT1, MRPL47, NCEH1, IFT80, SLC7A14, SENP2, GNB4, RTP4, MAGEF1, ZMAT3, MFSD1, FNDC3B, ATP13A3, VEPH1, TBL1XR1, ZBBX, LRRC31, MAP6D1, PHC3, ARL14, PIGZ, SPATA16, B3GNT5, IQCG, ATP13A4, FYTTD1, ACTRT3, MGC2889, LRCH3, CEP19, GFM1, LMLN, KLHL6, VWA5B2, TMEM41A, TMEM44, CAMK2N2, TM4SF19, RPL39L, DNAJC19, OTOL1, FAM131A, ZDHHC19, LRRC15, FAM43A, TMEM207, RTP1, TTC14, PPM1L, WDR49, LRRC34, MB21D2, XXYLT1, CCDC50, PYDC2, NCBP2AS2, SPTSSB, RNF168, HTR3C, LIPH, HTR3D, RPL22L1, SLC51A, FBXO45, MUC20, SENP5, LINC02052, NAALADL2, DYNLT2B, SMCO1, UTS2B, HTR3E, C3orf70, TPRG1, LINC02028, TRIM59, CCDC39, EHHADH-AS1, LPP-AS2, LRRIQ4, SAMD7, RTP2, OSTN, ATP13A5, SOX2-OT, WDR53, NRROS, TMEM212, C3orf80, LINC01994, FLJ42393, LINC00884, LINC00885, MIR15B, MIR16-2, MIR28, MIR570HG, SNORD2, SNORA4, IGF2BP2-AS1, LINC01192, GMNC, LINC02026, IQCJ, SCARNA7, SNORA81, SNORD66, MIR551B, MIR569, MIR570, LINC01100, MIR922, MIR944, TNK2-AS1, LINC02012, LINC00887, LOC100131635, SNAR-I, TRIM59-IFT80, MIR1224, TRV-AAC1-1, LOC100287290, MIR1248, MIR1263, MIR3137, MIR3919, IQCJ-SCHIP1, LINC01208, LINC00578, LINC02053, LINC00888, LINC02036, MELTF-AS1, DLG1-AS1, TMEM44-AS1, LINC01968, LINC02082, TM4SF19-DYNLT2B, MIR4448, MIR4797, MIR4789, LINC00501, MIR5588, MIR548AQ, NAALADL2-AS3, LPP-AS1, OPA1-AS1, LMLN-AS1, ABCC5-AS1, FGF12-AS1, FGF12-AS2, FGF12-AS3, NCBP2-AS1, NLGN1-AS1, KLHL6-AS1, TPRG1-AS2, UBXN7-AS1, TPRG1-AS1, LINC01840, ADIPOQ-AS1, YEATS2-AS1, TM4SF19-AS1, ATP13A5-AS1, TMEM212-AS1, NAALADL2-AS2, NAALADL2-AS1, LINC01014, IQCJ-SCHIP1-AS1, XXYLT1-AS1, MLF1-DT, LINC01206, LINC02067, XXYLT1-AS2, IL12A-AS1, LINC02023, SLC7A14-AS1, LINC01209, LOC101928739, PEX5L-AS2, TTC14-DT, LOC101928882, LINC02069, LOC101929106, LOC101929130, P3H2-AS1, ATP13A4-AS1, LINC02037, LINC01983, LINC01063, MIR6828, MIR7977, MIR6829, LINC02015, LOC102724604, LINC02031, LINC02043, LINCR-0002, LINC01322, LINC01327, LINC01324, KCNMB2-AS1, LOC105374194, LINC01997, MECOM-AS1, LINC02068, LINC01995, ATP11B-DT, EIF2B5-DT, LINC02054, LINC01839, LINC02041, LINC01991, LINC02013, LINC02038, LINC02048, LINC01972, LOC105374297, HTR3E-AS1, OSTN-AS1, LOC106660625, LOC107133517, LOC107986163, LINC02020, LOC108281160, LOC108281177, SOX2-SRR2, LOC108449887, SNORA63D, SNORA63B, SNORA63E, LOC110120606, LOC110120632, LOC110120723, LOC110120724, LOC110120734, LOC110120755, LOC110121064, LOC110121069, LOC110121092, LOC110121102, LOC110121110, LOC110121137, LOC110121144, LOC110121239, EEF1AKMT4, UC.134, EEF1AKMT4-ECE2, LOC110806306, LOC111162620, LOC111162621, LOC111242783, LOC111242785, LOC111365195, LOC111413008, LOC111828515, LOC112935904, LOC112935905, LOC112935906, LOC112935907, LOC112935908, LOC112935909, LOC112935910, LOC112935911, LOC112935912, LOC112935913, LOC112935914, LOC112935917, LOC112935918, LOC112935919, LOC112935920, LOC112935921, LOC112935922, LOC112935923, LOC112935924, LOC112935925, LOC112935926, LOC114004375, LOC114004376, LOC114004377, LOC114827819, LOC114827824, LOC114827826, LOC115995530, LOC115995531, LOC115995532, LOC115995533, LOC115995534, LOC115995535, LOC115995536, LOC115995537, LOC115995538, LOC121048720, LOC121048721, LOC121048722, LOC121048723, LOC121048724, LOC121048725, LOC121048726, LOC121048727, LOC121048728, LOC121048729, LOC121048730, LOC121048731, LOC121048732, LOC121048733, LOC121048734, LOC121048735, LOC121048736
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitterVCV000057984
7.
GRCh37:
Chr3:165854997-197851986
GRCh38:
Chr3:166137209-198125115
ACTL6A, AHSG, APOD, BCL6, BDH1, AP2M1, CLCN2, CPN2, CRYGS, DGKG, DLG1, DVL3, ECT2, EHHADH, EIF4A2, EIF4G1, EPHB3, ETV5, MECOM, FGF12, GHSR, GP5, HRG, HES1, IL1RAP, KNG1, LPP, MELTF, MUC4, NDUFB5, OPA1, CLDN11, PAK2, PCYT1A, SERPINI1, SERPINI2, PIK3CA, PLD1, POLR2H, PPP1R2, PRKCI, MASP1, PSMD2, RFC4, SNORA63, RPL35A, TRA2B, ST6GAL1, SKIL, SLC2A2, SOX2, SST, TERC, TFRC, THPO, SEC62, FXR1, TP63, CHRD, TNFSF10, EIF2B5, USP13, CLDN1, MAP3K13, ADIPOQ, RUBCN, ECE2, ABCC5, TNK2, ALG3, KCNMB2, IGF2BP2, CLDN16, PDCD10, NLGN1, NCBP2, TNIK, MCF2L2, ATP11B, VPS8, ACAP2, UBXN7, GPR160, FETUB, LAMP3, KCNMB3, GOLIM4, ZNF639, PEX5L, DNAJB11, DCUN1D1, KLHL24, PIGX, TBCCD1, P3H2, ABCF3, LSG1, PARL, MFN1, YEATS2, MYNN, EIF5A2, MCCC1, PLAAT1, MRPL47, NCEH1, SLC7A14, SENP2, GNB4, RTP4, MAGEF1, ZMAT3, FNDC3B, ATP13A3, TBL1XR1, ZBBX, LRRC31, MAP6D1, PHC3, PIGZ, SPATA16, B3GNT5, IQCG, ATP13A4, FYTTD1, ACTRT3, MGC2889, LRCH3, CEP19, LMLN, KLHL6, VWA5B2, TMEM41A, TMEM44, CAMK2N2, TM4SF19, RPL39L, DNAJC19, FAM131A, ZDHHC19, LRRC15, FAM43A, TMEM207, RTP1, TTC14, WDR49, LRRC34, MB21D2, XXYLT1, CCDC50, PYDC2, NCBP2AS2, RNF168, HTR3C, LIPH, HTR3D, RPL22L1, SLC51A, FBXO45, MUC20, SENP5, LINC02052, NAALADL2, DYNLT2B, SMCO1, UTS2B, HTR3E, C3orf70, TPRG1, LINC02028, CCDC39, EHHADH-AS1, LPP-AS2, LRRIQ4, SAMD7, RTP2, OSTN, ATP13A5, SOX2-OT, WDR53, NRROS, TMEM212, LINC01994, FLJ42393, LINC00884, LINC00885, MIR28, MIR570HG, SNORD2, SNORA4, IGF2BP2-AS1, GMNC, LINC02026, SNORA81, SNORD66, MIR551B, MIR569, MIR570, MIR922, MIR944, TNK2-AS1, LINC02012, LINC00887, LOC100131635, SNAR-I, MIR1224, TRV-AAC1-1, MIR1248, MIR3137, LINC01208, LINC00578, LINC02053, LINC00888, LINC02036, MELTF-AS1, DLG1-AS1, TMEM44-AS1, LINC01968, LINC02082, TM4SF19-DYNLT2B, MIR4448, MIR4797, MIR4789, LINC00501, MIR5588, MIR548AQ, NAALADL2-AS3, LPP-AS1, OPA1-AS1, LMLN-AS1, ABCC5-AS1, FGF12-AS1, FGF12-AS2, FGF12-AS3, NCBP2-AS1, NLGN1-AS1, KLHL6-AS1, TPRG1-AS2, UBXN7-AS1, TPRG1-AS1, LINC01840, ADIPOQ-AS1, YEATS2-AS1, TM4SF19-AS1, ATP13A5-AS1, TMEM212-AS1, NAALADL2-AS2, NAALADL2-AS1, LINC01014, XXYLT1-AS1, LINC01206, XXYLT1-AS2, SLC7A14-AS1, LINC01209, LOC101928739, PEX5L-AS2, TTC14-DT, LOC101928882, LINC02069, LOC101929106, LOC101929130, P3H2-AS1, ATP13A4-AS1, LINC02037, LINC01983, LINC01063, MIR6828, MIR7977, MIR6829, LINC02015, LOC102724604, LINC02031, LINC02043, LINCR-0002, LINC01327, KCNMB2-AS1, LOC105374194, LINC01997, MECOM-AS1, LINC02068, LINC01995, ATP11B-DT, EIF2B5-DT, LINC02054, LINC01839, LINC02041, LINC01991, LINC02013, LINC02038, LINC02048, LINC01972, LOC105374297, HTR3E-AS1, OSTN-AS1, LOC106660625, LOC107133517, LOC107986163, LINC02020, LOC108281160, LOC108281177, SOX2-SRR2, SNORA63D, SNORA63B, SNORA63E, LOC110120606, LOC110120632, LOC110120734, LOC110121064, LOC110121069, LOC110121102, LOC110121110, LOC110121137, LOC110121144, EEF1AKMT4, EEF1AKMT4-ECE2, LOC110806306, LOC111162620, LOC111162621, LOC111242783, LOC111242785, LOC111365195, LOC111413008, LOC111828515, LOC112935904, LOC112935905, LOC112935906, LOC112935907, LOC112935908, LOC112935909, LOC112935910, LOC112935911, LOC112935912, LOC112935913, LOC112935914, LOC112935917, LOC112935918, LOC112935919, LOC112935920, LOC112935921, LOC112935922, LOC112935923, LOC112935924, LOC112935925, LOC112935926, LOC114004375, LOC114004376, LOC114004377, LOC114827824, LOC114827826, LOC115995531, LOC115995532, LOC115995533, LOC115995534, LOC115995535, LOC115995536, LOC115995537, LOC115995538, LOC121048722, LOC121048723, LOC121048724, LOC121048725, LOC121048726, LOC121048727, LOC121048728, LOC121048729, LOC121048730, LOC121048731, LOC121048732, LOC121048733, LOC121048734, LOC121048735, LOC121048736
See casesPathogenic
(Dec 3, 2013)
no assertion criteria providedVCV000155627
8.
GRCh37:
Chr3:167885356-197837049
GRCh38:
Chr3:168167568-198110178
P3H2-AS1, ATP13A4-AS1, LINC02037, LINC01983, LINC01063, MIR6828, MIR7977, MIR6829, LINC02015, LOC102724604, LINC02031, LINC02043, LINCR-0002, KCNMB2-AS1, LINC01997, MECOM-AS1, LINC02068, LINC01995, ATP11B-DT, EIF2B5-DT, LINC02054, LINC01839, LINC02041, LINC01991, LINC02013, LINC02038, LINC02048, LINC01972, LOC105374297, HTR3E-AS1, OSTN-AS1, LOC106660625, LOC107133517, LOC107986163, LINC02020, LOC108281160, LOC108281177, SOX2-SRR2, SNORA63D, SNORA63B, SNORA63E, LOC110120606, LOC110120632, LOC110120734, LOC110121064, LOC110121069, LOC110121102, LOC110121110, LOC110121137, LOC110121144, EEF1AKMT4, EEF1AKMT4-ECE2, LOC110806306, LOC111162620, LOC111162621, LOC111242783, LOC111242785, LOC111365195, LOC111413008, LOC111828515, LOC112935904, LOC112935905, LOC112935906, LOC112935907, LOC112935908, LOC112935909, LOC112935910, LOC112935911, LOC112935912, LOC112935913, LOC112935914, LOC112935917, LOC112935918, LOC112935919, LOC112935920, LOC112935921, LOC112935922, LOC112935923, LOC112935924, LOC112935925, LOC112935926, LOC114004375, LOC114004376, LOC114004377, LOC114827824, LOC114827826, LOC115995532, LOC115995533, LOC115995534, LOC115995535, LOC115995536, LOC115995537, LOC115995538, LOC121048722, LOC121048723, LOC121048724, LOC121048725, LOC121048726, LOC121048727, LOC121048728, LOC121048729, LOC121048730, LOC121048731, LOC121048732, LOC121048733, LOC121048734, LOC121048735, LOC121048736, ACTL6A, AHSG, APOD, BCL6, BDH1, AP2M1, CLCN2, CPN2, CRYGS, DGKG, DLG1, DVL3, ECT2, EHHADH, EIF4A2, EIF4G1, EPHB3, ETV5, MECOM, FGF12, GHSR, GP5, HRG, HES1, IL1RAP, KNG1, LPP, MELTF, PCYT1A, MUC4, NDUFB5, OPA1, CLDN11, PAK2, PIK3CA, PLD1, POLR2H, PPP1R2, PRKCI, MASP1, PSMD2, RFC4, SNORA63, RPL35A, TRA2B, ST6GAL1, SKIL, SLC2A2, SOX2, SST, TERC, TFRC, THPO, SEC62, FXR1, TP63, CHRD, TNFSF10, EIF2B5, USP13, CLDN1, MAP3K13, ADIPOQ, RUBCN, ECE2, ABCC5, TNK2, ALG3, KCNMB2, IGF2BP2, CLDN16, NLGN1, NCBP2, TNIK, MCF2L2, ATP11B, VPS8, ACAP2, UBXN7, GPR160, FETUB, LAMP3, KCNMB3, ZNF639, PEX5L, DNAJB11, DCUN1D1, KLHL24, PIGX, TBCCD1, P3H2, ABCF3, LSG1, PARL, MFN1, YEATS2, MYNN, EIF5A2, MCCC1, PLAAT1, MRPL47, NCEH1, SLC7A14, SENP2, GNB4, RTP4, MAGEF1, ZMAT3, FNDC3B, ATP13A3, TBL1XR1, LRRC31, MAP6D1, PHC3, PIGZ, SPATA16, B3GNT5, IQCG, ATP13A4, FYTTD1, ACTRT3, MGC2889, LRCH3, CEP19, LMLN, KLHL6, VWA5B2, TMEM41A, TMEM44, CAMK2N2, TM4SF19, RPL39L, DNAJC19, FAM131A, ZDHHC19, LRRC15, FAM43A, TMEM207, RTP1, TTC14, LRRC34, MB21D2, XXYLT1, CCDC50, PYDC2, NCBP2AS2, RNF168, HTR3C, LIPH, HTR3D, RPL22L1, SLC51A, FBXO45, MUC20, SENP5, LINC02052, NAALADL2, DYNLT2B, SMCO1, UTS2B, HTR3E, C3orf70, TPRG1, LINC02028, CCDC39, EHHADH-AS1, LPP-AS2, LRRIQ4, SAMD7, RTP2, OSTN, ATP13A5, SOX2-OT, WDR53, NRROS, TMEM212, LINC01994, FLJ42393, LINC00884, LINC00885, MIR28, MIR570HG, SNORD2, SNORA4, IGF2BP2-AS1, GMNC, LINC02026, SNORA81, SNORD66, MIR551B, MIR569, MIR570, MIR922, MIR944, TNK2-AS1, LINC02012, LINC00887, LOC100131635, SNAR-I, MIR1224, TRV-AAC1-1, MIR1248, MIR3137, LINC01208, LINC00578, LINC02053, LINC00888, LINC02036, MELTF-AS1, DLG1-AS1, TMEM44-AS1, LINC01968, LINC02082, TM4SF19-DYNLT2B, MIR4448, MIR4797, MIR4789, LINC00501, MIR5588, MIR548AQ, NAALADL2-AS3, LPP-AS1, OPA1-AS1, LMLN-AS1, ABCC5-AS1, FGF12-AS1, FGF12-AS2, FGF12-AS3, NCBP2-AS1, NLGN1-AS1, KLHL6-AS1, TPRG1-AS2, UBXN7-AS1, TPRG1-AS1, LINC01840, ADIPOQ-AS1, YEATS2-AS1, TM4SF19-AS1, ATP13A5-AS1, TMEM212-AS1, NAALADL2-AS2, NAALADL2-AS1, LINC01014, XXYLT1-AS1, LINC01206, XXYLT1-AS2, SLC7A14-AS1, LINC01209, LOC101928739, PEX5L-AS2, TTC14-DT, LOC101928882, LINC02069, LOC101929106, LOC101929130
See casesPathogenic
(Dec 22, 2010)
no assertion criteria providedVCV000148012
9.
GRCh37:
Chr3:175886313-197845254
GRCh38:
Chr3:176168525-198118383
ACTL6A, AHSG, APOD, BCL6, BDH1, AP2M1, CLCN2, CPN2, CRYGS, DGKG, DLG1, DVL3, EHHADH, EIF4A2, EIF4G1, EPHB3, ETV5, FGF12, GP5, HRG, HES1, IL1RAP, KNG1, LPP, MELTF, MUC4, NDUFB5, OPA1, PAK2, PCYT1A, PIK3CA, POLR2H, PPP1R2, MASP1, PSMD2, RFC4, SNORA63, RPL35A, TRA2B, ST6GAL1, SOX2, SST, TFRC, THPO, FXR1, TP63, CHRD, EIF2B5, USP13, CLDN1, MAP3K13, ADIPOQ, RUBCN, ECE2, ABCC5, TNK2, ALG3, KCNMB2, IGF2BP2, CLDN16, NCBP2, MCF2L2, ATP11B, VPS8, ACAP2, UBXN7, FETUB, LAMP3, KCNMB3, ZNF639, PEX5L, DNAJB11, DCUN1D1, KLHL24, PIGX, TBCCD1, P3H2, ABCF3, LSG1, PARL, MFN1, YEATS2, MCCC1, PLAAT1, MRPL47, SENP2, GNB4, RTP4, MAGEF1, ZMAT3, ATP13A3, TBL1XR1, MAP6D1, PIGZ, B3GNT5, IQCG, ATP13A4, FYTTD1, MGC2889, LRCH3, CEP19, LMLN, KLHL6, VWA5B2, TMEM41A, TMEM44, CAMK2N2, TM4SF19, RPL39L, DNAJC19, FAM131A, ZDHHC19, LRRC15, FAM43A, TMEM207, RTP1, TTC14, MB21D2, XXYLT1, CCDC50, PYDC2, NCBP2AS2, RNF168, HTR3C, LIPH, HTR3D, SLC51A, FBXO45, MUC20, SENP5, LINC02052, DYNLT2B, SMCO1, UTS2B, HTR3E, C3orf70, TPRG1, LINC02028, CCDC39, EHHADH-AS1, LPP-AS2, RTP2, OSTN, ATP13A5, SOX2-OT, WDR53, NRROS, LINC01994, FLJ42393, LINC00884, LINC00885, MIR28, MIR570HG, SNORD2, SNORA4, IGF2BP2-AS1, GMNC, LINC02026, SNORA81, SNORD66, MIR570, MIR922, MIR944, TNK2-AS1, LINC02012, LINC00887, LOC100131635, SNAR-I, MIR1224, MIR1248, MIR3137, LINC01208, LINC00578, LINC02053, LINC00888, LINC02036, MELTF-AS1, DLG1-AS1, TMEM44-AS1, LINC01968, TM4SF19-DYNLT2B, MIR4448, MIR4797, LINC00501, MIR5588, MIR548AQ, LPP-AS1, OPA1-AS1, LMLN-AS1, ABCC5-AS1, FGF12-AS1, FGF12-AS2, FGF12-AS3, NCBP2-AS1, KLHL6-AS1, TPRG1-AS2, UBXN7-AS1, TPRG1-AS1, LINC01840, ADIPOQ-AS1, YEATS2-AS1, TM4SF19-AS1, ATP13A5-AS1, LINC01014, XXYLT1-AS1, LINC01206, XXYLT1-AS2, LINC01209, LOC101928739, PEX5L-AS2, TTC14-DT, LOC101928882, LINC02069, LOC101929106, LOC101929130, P3H2-AS1, ATP13A4-AS1, LINC02037, LINC01983, LINC01063, MIR7977, MIR6829, LINC02015, LOC102724604, LINC02031, LINC02043, LINCR-0002, KCNMB2-AS1, LINC01995, ATP11B-DT, EIF2B5-DT, LINC02054, LINC01839, LINC02041, LINC01991, LINC02013, LINC02038, LINC02048, LINC01972, LOC105374297, HTR3E-AS1, OSTN-AS1, LOC106660625, LOC107133517, LOC107986163, LINC02020, LOC108281160, LOC108281177, SOX2-SRR2, SNORA63D, SNORA63B, SNORA63E, LOC110120606, LOC110120632, LOC110120734, LOC110121064, LOC110121069, LOC110121110, LOC110121137, LOC110121144, EEF1AKMT4, EEF1AKMT4-ECE2, LOC111162620, LOC111162621, LOC111242783, LOC111242785, LOC111828515, LOC112935911, LOC112935912, LOC112935913, LOC112935914, LOC112935917, LOC112935918, LOC112935919, LOC112935920, LOC112935921, LOC112935922, LOC112935923, LOC112935924, LOC112935925, LOC112935926, LOC114004376, LOC114004377, LOC114827824, LOC115995533, LOC115995534, LOC115995535, LOC115995536, LOC115995537, LOC115995538, LOC121048724, LOC121048725, LOC121048726, LOC121048727, LOC121048728, LOC121048729, LOC121048730, LOC121048731, LOC121048732, LOC121048733, LOC121048734, LOC121048735, LOC121048736
See casesPathogenic
(Jul 9, 2012)
no assertion criteria providedVCV000149685
10.
GRCh37:
Chr3:176157699-197845254
GRCh38:
Chr3:176439911-198118383
WDR53, NRROS, LINC01994, FLJ42393, LINC00884, LINC00885, MIR28, MIR570HG, SNORD2, SNORA4, IGF2BP2-AS1, GMNC, LINC02026, SNORA81, SNORD66, MIR570, MIR922, MIR944, TNK2-AS1, LINC02012, LINC00887, LOC100131635, SNAR-I, MIR1224, MIR1248, MIR3137, LINC01208, LINC00578, LINC02053, LINC00888, LINC02036, MELTF-AS1, DLG1-AS1, TMEM44-AS1, LINC01968, TM4SF19-DYNLT2B, MIR4448, MIR4797, LINC00501, MIR5588, MIR548AQ, LPP-AS1, OPA1-AS1, LMLN-AS1, ABCC5-AS1, FGF12-AS1, FGF12-AS2, FGF12-AS3, NCBP2-AS1, KLHL6-AS1, TPRG1-AS2, UBXN7-AS1, TPRG1-AS1, LINC01840, ADIPOQ-AS1, YEATS2-AS1, TM4SF19-AS1, ATP13A5-AS1, LINC01014, XXYLT1-AS1, LINC01206, XXYLT1-AS2, LINC01209, LOC101928739, PEX5L-AS2, TTC14-DT, LOC101928882, LINC02069, LOC101929106, LOC101929130, P3H2-AS1, ATP13A4-AS1, LINC02037, LINC01983, LINC01063, MIR7977, MIR6829, LINC02015, LOC102724604, LINC02031, LINC02043, LINCR-0002, KCNMB2-AS1, LINC01995, ATP11B-DT, EIF2B5-DT, LINC02054, LINC01839, LINC02041, LINC01991, LINC02013, LINC02038, LINC02048, LINC01972, LOC105374297, HTR3E-AS1, OSTN-AS1, LOC106660625, LOC107133517, LOC107986163, LINC02020, LOC108281160, LOC108281177, SOX2-SRR2, SNORA63D, SNORA63B, SNORA63E, LOC110120606, LOC110120632, LOC110120734, LOC110121064, LOC110121069, LOC110121110, LOC110121137, LOC110121144, EEF1AKMT4, EEF1AKMT4-ECE2, LOC111162620, LOC111162621, LOC111242783, LOC111242785, LOC111828515, LOC112935911, LOC112935912, LOC112935913, LOC112935914, LOC112935917, LOC112935918, LOC112935919, LOC112935920, LOC112935921, LOC112935922, LOC112935923, LOC112935924, LOC112935925, LOC112935926, LOC114004376, LOC114004377, LOC114827824, LOC115995533, LOC115995534, LOC115995535, LOC115995536, LOC115995537, LOC115995538, LOC121048724, LOC121048725, LOC121048726, LOC121048727, LOC121048728, LOC121048729, LOC121048730, LOC121048731, LOC121048732, LOC121048733, LOC121048734, LOC121048735, LOC121048736, ACTL6A, AHSG, APOD, BCL6, BDH1, AP2M1, CLCN2, CPN2, CRYGS, DGKG, DLG1, DVL3, EHHADH, EIF4A2, EIF4G1, EPHB3, ETV5, FGF12, GP5, HRG, HES1, IL1RAP, KNG1, LPP, MELTF, SNORA63, MUC4, NDUFB5, OPA1, PAK2, PCYT1A, PIK3CA, POLR2H, PPP1R2, MASP1, PSMD2, RFC4, RPL35A, TRA2B, ST6GAL1, SOX2, SST, TFRC, THPO, FXR1, TP63, CHRD, EIF2B5, USP13, CLDN1, MAP3K13, ADIPOQ, RUBCN, ECE2, ABCC5, TNK2, ALG3, KCNMB2, IGF2BP2, CLDN16, NCBP2, MCF2L2, ATP11B, VPS8, ACAP2, UBXN7, FETUB, LAMP3, KCNMB3, ZNF639, PEX5L, DNAJB11, DCUN1D1, KLHL24, PIGX, TBCCD1, P3H2, ABCF3, LSG1, PARL, MFN1, YEATS2, MCCC1, PLAAT1, MRPL47, SENP2, GNB4, RTP4, MAGEF1, ZMAT3, ATP13A3, TBL1XR1, MAP6D1, PIGZ, B3GNT5, IQCG, ATP13A4, FYTTD1, MGC2889, LRCH3, CEP19, LMLN, KLHL6, VWA5B2, TMEM41A, TMEM44, CAMK2N2, TM4SF19, RPL39L, DNAJC19, FAM131A, ZDHHC19, LRRC15, FAM43A, TMEM207, RTP1, TTC14, MB21D2, XXYLT1, CCDC50, PYDC2, NCBP2AS2, RNF168, HTR3C, LIPH, HTR3D, SLC51A, FBXO45, MUC20, SENP5, LINC02052, DYNLT2B, SMCO1, UTS2B, HTR3E, C3orf70, TPRG1, LINC02028, CCDC39, EHHADH-AS1, LPP-AS2, RTP2, OSTN, ATP13A5, SOX2-OT
See casesPathogenic
(Dec 16, 2011)
no assertion criteria providedVCV000148947
11.
GRCh37:
Chr3:178129495-197837190
GRCh38:
Chr3:178411707-198110319
ACTL6A, AHSG, APOD, BCL6, BDH1, AP2M1, CLCN2, CPN2, CRYGS, DGKG, DLG1, DVL3, EHHADH, EIF4A2, EIF4G1, EPHB3, ETV5, FGF12, GP5, HRG, HES1, IL1RAP, KNG1, LPP, MELTF, SNORA63, MUC4, NDUFB5, OPA1, PAK2, PCYT1A, PIK3CA, POLR2H, PPP1R2, MASP1, PSMD2, RFC4, RPL35A, TRA2B, ST6GAL1, SOX2, SST, TFRC, THPO, FXR1, TP63, CHRD, EIF2B5, USP13, CLDN1, MAP3K13, ADIPOQ, RUBCN, ECE2, ABCC5, TNK2, ALG3, KCNMB2, IGF2BP2, CLDN16, NCBP2, MCF2L2, ATP11B, VPS8, ACAP2, UBXN7, FETUB, LAMP3, KCNMB3, ZNF639, PEX5L, DNAJB11, DCUN1D1, KLHL24, PIGX, TBCCD1, P3H2, ABCF3, LSG1, PARL, MFN1, YEATS2, MCCC1, PLAAT1, MRPL47, SENP2, GNB4, RTP4, MAGEF1, ZMAT3, ATP13A3, MAP6D1, PIGZ, B3GNT5, IQCG, ATP13A4, FYTTD1, MGC2889, LRCH3, CEP19, LMLN, KLHL6, VWA5B2, TMEM41A, TMEM44, CAMK2N2, TM4SF19, RPL39L, DNAJC19, FAM131A, ZDHHC19, LRRC15, FAM43A, TMEM207, RTP1, TTC14, MB21D2, XXYLT1, CCDC50, PYDC2, NCBP2AS2, RNF168, HTR3C, LIPH, HTR3D, SLC51A, FBXO45, UTS2B, MUC20, SENP5, LINC02052, DYNLT2B, SMCO1, HTR3E, C3orf70, TPRG1, LINC02028, CCDC39, EHHADH-AS1, LPP-AS2, RTP2, OSTN, ATP13A5, SOX2-OT, WDR53, NRROS, LINC01994, FLJ42393, LINC00884, LINC00885, MIR28, MIR570HG, SNORD2, SNORA4, IGF2BP2-AS1, GMNC, LINC02026, SNORA81, SNORD66, MIR570, MIR922, MIR944, TNK2-AS1, LINC02012, LINC00887, LOC100131635, SNAR-I, MIR1224, MIR1248, MIR3137, LINC02053, LINC00888, LINC02036, MELTF-AS1, DLG1-AS1, TMEM44-AS1, LINC01968, TM4SF19-DYNLT2B, MIR4448, MIR4797, MIR5588, MIR548AQ, LPP-AS1, OPA1-AS1, LMLN-AS1, ABCC5-AS1, FGF12-AS1, FGF12-AS2, FGF12-AS3, NCBP2-AS1, KLHL6-AS1, TPRG1-AS2, UBXN7-AS1, TPRG1-AS1, LINC01840, ADIPOQ-AS1, YEATS2-AS1, TM4SF19-AS1, ATP13A5-AS1, LINC01014, XXYLT1-AS1, LINC01206, XXYLT1-AS2, LOC101928739, PEX5L-AS2, TTC14-DT, LOC101928882, LINC02069, LOC101929106, LOC101929130, P3H2-AS1, ATP13A4-AS1, LINC02037, LINC01983, LINC01063, MIR6829, LOC102724604, LINC02031, LINC02043, LINCR-0002, KCNMB2-AS1, LINC01995, ATP11B-DT, EIF2B5-DT, LINC02054, LINC01839, LINC02041, LINC01991, LINC02013, LINC02038, LINC02048, LINC01972, LOC105374297, HTR3E-AS1, OSTN-AS1, LOC106660625, LOC107133517, LOC107986163, LINC02020, LOC108281160, LOC108281177, SOX2-SRR2, SNORA63D, SNORA63B, SNORA63E, LOC110120606, LOC110120632, LOC110120734, LOC110121064, LOC110121069, LOC110121110, LOC110121137, LOC110121144, EEF1AKMT4, EEF1AKMT4-ECE2, LOC111162620, LOC111162621, LOC111242783, LOC111242785, LOC111828515, LOC112935913, LOC112935914, LOC112935917, LOC112935918, LOC112935919, LOC112935920, LOC112935921, LOC112935922, LOC112935923, LOC112935924, LOC112935925, LOC112935926, LOC114004376, LOC114004377, LOC114827824, LOC115995533, LOC115995534, LOC115995535, LOC115995536, LOC115995537, LOC115995538, LOC121048724, LOC121048725, LOC121048726, LOC121048727, LOC121048728, LOC121048729, LOC121048730, LOC121048731, LOC121048732, LOC121048733, LOC121048734, LOC121048735, LOC121048736
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitterVCV000057994
12.
GRCh37:
Chr3:185203637-197837049
GRCh38:
Chr3:185485849-198110178
AHSG, APOD, BCL6, BDH1, CPN2, CRYGS, DGKG, DLG1, EIF4A2, ETV5, FGF12, GP5, HRG, HES1, IL1RAP, KNG1, LPP, MELTF, MUC4, OPA1, PAK2, PCYT1A, PPP1R2, MASP1, RFC4, SNORA63, RPL35A, TRA2B, ST6GAL1, SST, TFRC, TP63, CLDN1, MAP3K13, ADIPOQ, RUBCN, TNK2, IGF2BP2, CLDN16, NCBP2, ACAP2, UBXN7, FETUB, DNAJB11, PIGX, TBCCD1, P3H2, LSG1, PLAAT1, SENP2, RTP4, ATP13A3, PIGZ, IQCG, ATP13A4, FYTTD1, MGC2889, LRCH3, CEP19, LMLN, TMEM41A, TMEM44, TM4SF19, RPL39L, ZDHHC19, LRRC15, FAM43A, TMEM207, RTP1, MB21D2, XXYLT1, CCDC50, PYDC2, NCBP2AS2, RNF168, LIPH, SLC51A, FBXO45, MUC20, SENP5, LINC02052, DYNLT2B, SMCO1, UTS2B, TPRG1, LINC02028, LPP-AS2, RTP2, OSTN, ATP13A5, WDR53, NRROS, FLJ42393, LINC00884, LINC00885, MIR28, MIR570HG, SNORD2, SNORA4, IGF2BP2-AS1, GMNC, LINC02026, SNORA81, MIR570, MIR922, MIR944, TNK2-AS1, LINC02012, LINC00887, LOC100131635, SNAR-I, MIR1248, MIR3137, LINC02036, MELTF-AS1, DLG1-AS1, TMEM44-AS1, LINC01968, TM4SF19-DYNLT2B, MIR4797, MIR548AQ, LPP-AS1, OPA1-AS1, LMLN-AS1, FGF12-AS1, FGF12-AS2, FGF12-AS3, NCBP2-AS1, TPRG1-AS2, UBXN7-AS1, TPRG1-AS1, ADIPOQ-AS1, TM4SF19-AS1, ATP13A5-AS1, XXYLT1-AS1, XXYLT1-AS2, LOC101929106, LOC101929130, P3H2-AS1, ATP13A4-AS1, LINC02037, LINC01983, LINC01063, MIR6829, LINC02043, LINCR-0002, LINC02041, LINC01991, LINC02013, LINC02038, LINC02048, LINC01972, LOC105374297, OSTN-AS1, LOC106660625, LOC107133517, LINC02020, LOC108281160, SNORA63B, LOC110121069, LOC110121110, LOC110121137, LOC110121144, LOC111162620, LOC111162621, LOC111242783, LOC111242785, LOC111828515, LOC112935914, LOC112935917, LOC112935918, LOC112935919, LOC112935920, LOC112935921, LOC112935922, LOC112935923, LOC112935924, LOC112935925, LOC112935926, LOC114004377, LOC114827824, LOC115995536, LOC115995537, LOC115995538, LOC121048726, LOC121048727, LOC121048728, LOC121048729, LOC121048730, LOC121048731, LOC121048732, LOC121048733, LOC121048734, LOC121048735, LOC121048736
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitterVCV000057868
13.
GRCh37:
Chr3:185638668-197837190
GRCh38:
Chr3:185920880-198110319
AHSG, APOD, BCL6, BDH1, CPN2, CRYGS, DGKG, DLG1, EIF4A2, ETV5, FGF12, GP5, HRG, HES1, IL1RAP, KNG1, LPP, MELTF, MUC4, OPA1, PAK2, PCYT1A, PPP1R2, MASP1, RFC4, SNORA63, RPL35A, TRA2B, ST6GAL1, SST, TFRC, TP63, CLDN1, ADIPOQ, RUBCN, TNK2, CLDN16, NCBP2, ACAP2, UBXN7, FETUB, DNAJB11, PIGX, TBCCD1, P3H2, LSG1, PLAAT1, RTP4, ATP13A3, PIGZ, IQCG, ATP13A4, FYTTD1, MGC2889, LRCH3, CEP19, LMLN, TMEM44, TM4SF19, RPL39L, ZDHHC19, LRRC15, FAM43A, TMEM207, RTP1, MB21D2, XXYLT1, CCDC50, PYDC2, NCBP2AS2, RNF168, SLC51A, FBXO45, MUC20, SENP5, LINC02052, DYNLT2B, SMCO1, UTS2B, TPRG1, LINC02028, LPP-AS2, RTP2, OSTN, ATP13A5, WDR53, NRROS, FLJ42393, LINC00884, LINC00885, MIR28, MIR570HG, SNORD2, SNORA4, GMNC, LINC02026, SNORA81, MIR570, MIR922, MIR944, TNK2-AS1, LINC02012, LINC00887, LOC100131635, SNAR-I, MIR1248, MIR3137, LINC02036, MELTF-AS1, DLG1-AS1, TMEM44-AS1, LINC01968, TM4SF19-DYNLT2B, MIR4797, LPP-AS1, OPA1-AS1, LMLN-AS1, FGF12-AS1, FGF12-AS2, FGF12-AS3, NCBP2-AS1, TPRG1-AS2, UBXN7-AS1, TPRG1-AS1, ADIPOQ-AS1, TM4SF19-AS1, ATP13A5-AS1, XXYLT1-AS1, XXYLT1-AS2, LOC101929106, LOC101929130, P3H2-AS1, ATP13A4-AS1, LINC02037, LINC01983, LINC01063, MIR6829, LINC02043, LINCR-0002, LINC02041, LINC01991, LINC02013, LINC02038, LINC02048, LINC01972, LOC105374297, OSTN-AS1, LOC106660625, LOC107133517, LINC02020, LOC108281160, SNORA63B, LOC110121069, LOC110121110, LOC110121137, LOC110121144, LOC111162620, LOC111162621, LOC111242783, LOC111242785, LOC111828515, LOC112935914, LOC112935917, LOC112935918, LOC112935919, LOC112935920, LOC112935921, LOC112935922, LOC112935923, LOC112935924, LOC112935925, LOC112935926, LOC114004377, LOC115995536, LOC115995537, LOC115995538, LOC121048727, LOC121048728, LOC121048729, LOC121048730, LOC121048731, LOC121048732, LOC121048733, LOC121048734, LOC121048735, LOC121048736
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitterVCV000057996
14.
GRCh37:
Chr3:188983160-197837049
GRCh38:
Chr3:189265371-198110178
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitterVCV000057997
15.
GRCh37:
Chr3:190385452-197837049
GRCh38:
Chr3:190667663-198110178
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitterVCV000057998
16.
GRCh37:
Chr3:192470726-197845254
GRCh38:
Chr3:192752937-198118383