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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: Lys8Glufs*64.
VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review statusAccession
1.
GRCh37:
Chr3:103145726-197837049
GRCh38:
Chr3:103426882-198110178
A4GNT, AADAC, AADACL2, AADACL2-AS1, ABCC5, ABCC5-AS1, ABCF3, ABHD10, ABTB1, ACAD11, ACAD9, ACAP2, ACKR4, ACP3, ACTL6A, ACTRT3, ADCY5, ADIPOQ, ADIPOQ-AS1, ADPRH, AGTR1, AHSG, ALCAM, ALDH1L1, ALDH1L1-AS1, ALDH1L1-AS2, ALG1L2, ALG3, AMOTL2, ANAPC13, ANKUB1, AP2M1, APOD, ARGFX, ARHGAP31, ARHGAP31-AS1, ARHGEF26, ARHGEF26-AS1, ARL14, ARMC8, ASTE1, ATG3, ATP11B, ATP11B-DT, ATP13A3, ATP13A3-DT, ATP13A4, ATP13A4-AS1, ATP13A5, ATP13A5-AS1, ATP1B3, ATP2C1, ATP6V1A, ATR, B3GALNT1, B3GNT5, B4GALT4, B4GALT4-AS1, BBX, BCHE, BCL6, BDH1, BFSP2, BFSP2-AS1, BOC, BPESC1, BTLA, C3orf22, C3orf33, C3orf36, C3orf52, C3orf56, C3orf70, C3orf80, C3orf85, CAMK2N2, CASR, CBLB, CCDC14, CCDC191, CCDC39, CCDC50, CCDC54, CCDC80, CCNL1, CD200, CD200R1, CD200R1L, CD200R1L-AS1, CD47, CD80, CD86, CD96, CDV3, CEP19, CEP63, CEP70, CFAP100, CFAP100-DT, CFAP44, CFAP44-AS1, CFAP91, CFAP92, CHCHD6, CHRD, CHST13, CHST2, CIP2A, CLCN2, CLDN1, CLDN11, CLDN16, CLDN18, CLRN1, CLRN1-AS1, CLSTN2, CLSTN2-AS1, CNBP, COL6A5, COL6A6, COMMD2, COPB2, COPB2-DT, COPG1, COX17, CP, CPA3, CPB1, CPN2, CPNE4, CRYGS, CSTA, DBR1, DCUN1D1, DGKG, DHX36, DIPK2A, DLG1, DLG1-AS1, DNAJB11, DNAJB8, DNAJB8-AS1, DNAJC13, DNAJC19, DPPA2, DPPA4, DRD3, DTX3L, DUBR, DVL3, DYNLT2B, DZIP1L, DZIP3, EAF2, ECE2, ECT2, EEF1AKMT4, EEF1AKMT4-ECE2, EEFSEC, EFCAB12, EFCC1, EHHADH, EHHADH-AS1, EIF2A, EIF2B5, EIF2B5-DT, EIF4A2, EIF4G1, EIF5A2, EPHB1, EPHB3, ERICH6, ERICH6-AS1, ESYT3, ETV5, FAIM, FAM131A, FAM162A, FAM43A, FBXO40, FBXO45, FETUB, FGF12, FGF12-AS1, FGF12-AS2, FGF12-AS3, FLJ42393, FNDC3B, FOXL2, FOXL2NB, FSTL1, FXR1, FYTTD1, GAP43, GATA2, GATA2-AS1, GCSAM, GFM1, GHSR, GK5, GMNC, GMPS, GNB4, GOLGB1, GOLIM4, GP5, GP9, GPR149, GPR156, GPR160, GPR171, GPR87, GRAMD1C, GRK7, GSK3B, GTF2E1, GTPBP8, GUCA1C, GYG1, H1-10, H1-10-AS1, H1-8, HACD2, HCLS1, HEG1, HES1, HGD, HHLA2, HLTF, HLTF-AS1, HMCES, HPS3, HRG, HSPBAP1, HTR3C, HTR3D, HTR3E, HTR3E-AS1, IFT122, IFT57, IFT80, IGF2BP2, IGF2BP2-AS1, IGSF10, IGSF11, IGSF11-AS1, IL12A, IL12A-AS1, IL1RAP, IL20RB, IL20RB-AS1, ILDR1, IQCB1, IQCG, IQCJ, IQCJ-SCHIP1, IQCJ-SCHIP1-AS1, ISY1, ISY1-RAB43, ITGB5, KALRN, KBTBD12, KCNAB1, KCNAB1-AS1, KCNAB1-AS2, KCNMB2, KCNMB2-AS1, KCNMB3, KLF15, KLHL24, KLHL6, KLHL6-AS1, KNG1, KPNA1, KPNA4, KY, LAMP3, LEKR1, LINC00488, LINC00501, LINC00578, LINC00635, LINC00636, LINC00880, LINC00881, LINC00882, LINC00885, LINC00886, LINC00887, LINC00888, LINC00901, LINC00903, LINC01014, LINC01063, LINC01100, LINC01192, LINC01205, LINC01206, LINC01208, LINC01209, LINC01210, LINC01213, LINC01214, LINC01215, LINC01279, LINC01322, LINC01324, LINC01327, LINC01391, LINC01471, LINC01487, LINC01565, LINC01839, LINC01840, LINC01968, LINC01972, LINC01983, LINC01990, LINC01991, LINC01994, LINC01995, LINC01997, LINC01998, LINC02000, LINC02004, LINC02006, LINC02010, LINC02012, LINC02013, LINC02014, LINC02015, LINC02016, LINC02020, LINC02021, LINC02023, LINC02024, LINC02026, LINC02028, LINC02029, LINC02031, LINC02032, LINC02035, LINC02036, LINC02037, LINC02038, LINC02041, LINC02042, LINC02043, LINC02044, LINC02045, LINC02046, LINC02048, LINC02049, LINC02052, LINC02053, LINC02054, LINC02066, LINC02067, LINC02068, LINC02069, LINC02082, LINC02614, LINC02618, LINC02877, LINCR-0002, LIPH, LMLN, LMLN-AS1, LNCSRLR, LOC100131635, LOC100287290, LOC100289361, LOC100507389, LOC101926968, LOC101928105, LOC101928166, LOC101928882, LOC101929106, LOC101929130, LOC101929579, LOC102724604, LOC105374042, LOC105374060, LOC105374194, LOC105374297, LOC105374312, LOC105374313, LOC106660625, LOC107133517, LOC107986163, LOC108004531, LOC108004532, LOC108192211, LOC108281117, LOC108281160, LOC108281177, LOC108449887, LOC108644431, 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, LOC110806306, LOC111162620, LOC111162621, LOC111242783, LOC111242785, LOC111255649, LOC111365173, LOC111365195, LOC111365202, LOC111413008, LOC111464993, LOC111556160, LOC111562374, LOC111828514, LOC111828515, 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, 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, LOC440982, LOC646903, LOC90246, LPP, LPP-AS1, LPP-AS2, LRCH3, LRRC15, LRRC31, LRRC34, LRRC58, LRRC58-DT, LRRIQ4, LSAMP, LSAMP-AS1, LSG1, LXN, MAGEF1, MAP3K13, MAP6D1, MASP1, MB21D2, MBD4, MBNL1, MBNL1-AS1, MCCC1, MCF2L2, MCM2, MECOM, MECOM-AS1, MED12L, MELTF, MELTF-AS1, MFN1, MFSD1, MGC2889, MGLL, MINDY4B, MIR12124, MIR1224, MIR1248, MIR1263, MIR15B, MIR16-2, MIR198, MIR28, MIR3137, MIR3919, MIR4445, MIR4446, MIR4447, MIR4448, MIR4788, MIR4789, MIR4796, MIR4797, MIR5002, MIR5092, MIR5186, MIR544B, MIR548AB, MIR548AQ, MIR548I1, MIR551B, MIR5588, MIR567, MIR568, MIR5682, MIR569, MIR570, MIR5704, MIR570HG, MIR6083, MIR6529, MIR6825, MIR6826, MIR6827, MIR6828, MIR6829, MIR7110, MIR7976, MIR7977, MIR8076, MIR922, MIR944, MIR9900, MIX23, MLF1, MLF1-DT, MME, MORC1, MORC1-AS1, MRAS, MRPL3, MRPL47, MRPS22, MSL2, MUC13, MUC20, MYNN, MUC4, MYH15, MYLK, MYLK-AS1, MYLK-AS2, NAA50, NAALADL2, NAALADL2-AS1, NAALADL2-AS2, NAALADL2-AS3, NCBP2, NCBP2-AS1, NCBP2AS2, NCEH1, NCK1, NCK1-DT, NDUFB4, NDUFB5, NECTIN3, NECTIN3-AS1, NEK11, NEPRO, NLGN1, NLGN1-AS1, NMD3, NME9, NMNAT3, NPHP3, NPHP3-ACAD11, NPHP3-AS1, NR1I2, NRROS, NUDT16, NUDT16-DT, OPA1, OPA1-AS1, OSBPL11, OSTN, OSTN-AS1, OTOL1, P2RY1, P2RY12, P2RY13, P2RY14, P3H2, P3H2-AS1, PAK2, PAQR9, PAQR9-AS1, PARL, PARP14, PARP15, PARP9, PCCB, PCOLCE2, PCYT1A, PDCD10, PDIA5, PEX5L, PEX5L-AS2, PFN2, PHC3, PHLDB2, PIGX, PIGZ, PIK3CA, PIK3CA-DT, PIK3CB, PIK3R4, PISRT1, PLA1A, PLAAT1, PLCH1, PLCH1-AS1, PLCH1-AS2, PLCXD2, PLCXD2-AS1, PLD1, PLOD2, PLS1, PLSCR1, PLSCR2, PLSCR4, PLSCR5, PLXNA1, PLXND1, PODXL2, POGLUT1, POLQ, POLR2H, POPDC2, PPM1L, PPP1R2, PPP2R3A, PRKCI, PRR20G, PRR23A, PRR23B, PRR23C, PSMD2, PTX3, PXYLP1, PYDC2, QTRT2, RAB43, RAB6B, RAB7A, RABL3, RAP2B, RARRES1, RASA2, RBP1, RBP2, RER, RETNLB, RFC4, RHO, RNF13, RNF168, RNF7, ROPN1, ROPN1B, RPL22L1, RPL35A, RPL39L, RPN1, RSRC1, RTP1, RTP2, RTP4, RUBCN, RUVBL1, RUVBL1-AS1, RYK, SAMD7, SCARNA7, SCHIP1, SEC22A, SEC61A1, SEC62, SELENOT, SEMA5B, SENP2, SENP5, SERP1, SERPINI1, SERPINI2, SHOX2, SI, SIAH2, SIDT1, SKIL, SLC12A8, SLC15A2, SLC25A36, SLC2A2, SLC33A1, SLC35A5, SLC35G2, SLC41A3, SLC49A4, SLC51A, SLC7A14, SLC7A14-AS1, SLC9A9, SLC9A9-AS1, SLC9C1, SLCO2A1, SLITRK3, SMC4, SMCO1, SNAR-I, SNORA4, SNORA58, SNORA63, SNORA63B, SNORA63D, SNORA63E, SNORA7B, SNORA81, SNORD155, SNORD2, SNORD66, SNX4, SOX14, SOX2, SOX2-OT, SOX2-SRR2, SPATA16, SPICE1, SPSB4, SPTSSB, SRPRB, SSR3, SST, ST6GAL1, STAG1, STRIT1, STXBP5L, SUCNR1, TAGLN3, TBCCD1, TBILA, TBL1XR1, TERC, TEX55, TF, TFDP2, TFRC, THPO, TIGIT, TIMMDC1, TIPARP, TIPARP-AS1, TM4SF1, TM4SF1-AS1, TM4SF18, TM4SF19, TM4SF19-AS1, TM4SF19-DYNLT2B, TM4SF4, TMCC1, TMCC1-DT, TMEM108, TMEM108-AS1, TMEM207, TMEM212, TMEM212-AS1, TMEM39A, TMEM41A, TMEM44, TMEM44-AS1, TMPRSS7, TNFSF10, TNIK, TNK2, TNK2-AS1, TOPBP1, TP63, TPRA1, TPRG1, TPRG1-AS1, TPRG1-AS2, TRA2B, TRAT1, TRC-GCA6-1, TRC-GCA9-1, TRH, TRIM42, TRIM59, TRIM59-IFT80, TRPC1, TRV-AAC1-1, TSC22D2, TTC14, TTC14-DT, TUSC7, TXNRD3, TXNRD3NB, U2SURP, UBA5, UBXN7, UBXN7-AS1, UC.134, UMPS, UPK1B, UROC1, USF3, USP13, UTS2B, VEPH1, VPS8, VWA5B2, WDR49, WDR53, WDR5B, WDR5B-DT, WWTR1, WWTR1-AS1, XRN1, XXYLT1, XXYLT1-AS1, XXYLT1-AS2, YEATS2, YEATS2-AS1, ZBBX, ZBED2, ZBTB20, ZBTB20-AS1, ZBTB20-AS3, ZBTB20-AS4, ZBTB20-AS5, ZBTB38, ZDHHC19, ZDHHC23, ZIC1, ZIC4, ZMAT3, ZNF148, ZNF639, ZNF80, ZXDC
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
ABCC5, ABCC5-AS1, ABCF3, ACAP2, ACTL6A, ACTRT3, ADIPOQ, ADIPOQ-AS1, AHSG, ALG3, AP2M1, APOD, ARHGEF26, ARHGEF26-AS1, ARL14, ATP11B, ATP11B-DT, ATP13A3, ATP13A3-DT, ATP13A4, ATP13A4-AS1, ATP13A5, ATP13A5-AS1, B3GALNT1, B3GNT5, BCHE, BCL6, BDH1, C3orf33, C3orf70, C3orf80, CAMK2N2, CCDC39, CCDC50, CCNL1, CEP19, CHRD, CLCN2, CLDN1, CLDN11, CLDN16, CPN2, CRYGS, DCUN1D1, DGKG, DHX36, DLG1, DLG1-AS1, DNAJB11, DNAJC19, DVL3, DYNLT2B, ECE2, ECT2, EEF1AKMT4, EEF1AKMT4-ECE2, EHHADH, EHHADH-AS1, EIF2B5, EIF2B5-DT, EIF4A2, EIF4G1, EIF5A2, EPHB3, ETV5, FAM131A, FAM43A, FBXO45, FETUB, FGF12, FGF12-AS1, FGF12-AS2, FGF12-AS3, FLJ42393, FNDC3B, FXR1, FYTTD1, GFM1, GHSR, GMNC, GMPS, GNB4, GOLIM4, GP5, GPR149, GPR160, HES1, HRG, HTR3C, HTR3D, HTR3E, HTR3E-AS1, IFT80, IGF2BP2, IGF2BP2-AS1, IL12A, IL12A-AS1, IL1RAP, IQCG, IQCJ, IQCJ-SCHIP1, IQCJ-SCHIP1-AS1, KCNAB1, KCNAB1-AS1, KCNAB1-AS2, KCNMB2, KCNMB2-AS1, KCNMB3, KLHL24, KLHL6, KLHL6-AS1, KNG1, KPNA4, LAMP3, LEKR1, LINC00501, LINC00578, LINC00880, LINC00881, LINC00885, LINC00886, LINC00887, LINC00888, LINC01014, LINC01063, LINC01100, LINC01192, LINC01206, LINC01208, LINC01209, LINC01322, LINC01324, LINC01327, LINC01487, LINC01839, LINC01840, LINC01968, LINC01972, LINC01983, LINC01991, LINC01994, LINC01995, LINC01997, LINC02006, LINC02012, LINC02013, LINC02015, LINC02020, LINC02023, LINC02026, LINC02028, LINC02029, LINC02031, LINC02036, LINC02037, LINC02038, LINC02041, LINC02043, LINC02048, LINC02052, LINC02053, LINC02054, LINC02067, LINC02068, LINC02069, LINC02082, LINC02877, LINCR-0002, LIPH, LMLN, LMLN-AS1, LOC100131635, LOC100287290, LOC101928166, LOC101928882, LOC101929106, LOC101929130, LOC102724604, LOC105374194, LOC105374297, LOC106660625, LOC107133517, LOC107986163, LOC108281160, LOC108281177, LOC108449887, LOC110120606, LOC110120632, LOC110120723, LOC110120724, LOC110120734, LOC110120755, LOC110121064, LOC110121069, LOC110121092, LOC110121102, LOC110121110, LOC110121137, LOC110121144, LOC110121239, 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, LPP, LPP-AS1, LPP-AS2, LRCH3, LRRC15, LRRC31, LRRC34, LRRIQ4, LSG1, LXN, MAGEF1, MAP3K13, MAP6D1, MASP1, MB21D2, MBNL1, MBNL1-AS1, MCCC1, MCF2L2, MECOM, MECOM-AS1, MELTF, MELTF-AS1, MFN1, MFSD1, MGC2889, MIR1224, MIR1248, MIR1263, MIR15B, MIR16-2, MIR28, MIR3137, MIR3919, MIR4448, MIR4789, MIR4797, MIR548AQ, MIR551B, MIR5588, MIR569, MIR570, MIR570HG, MIR6828, MIR6829, MIR7977, MIR922, MIR944, MLF1, MLF1-DT, MME, MRPL47, NAALADL2-AS1, MUC20, MUC4, MYNN, NAALADL2, NAALADL2-AS2, NAALADL2-AS3, NCBP2, NCBP2-AS1, NCBP2AS2, NCEH1, NDUFB5, NLGN1, NLGN1-AS1, NMD3, NRROS, OPA1, OPA1-AS1, OSTN, OSTN-AS1, OTOL1, P2RY1, P3H2, P3H2-AS1, PAK2, PARL, PCYT1A, PDCD10, PEX5L, PEX5L-AS2, PHC3, PIGX, PIGZ, PIK3CA, PIK3CA-DT, PLAAT1, PLCH1, PLCH1-AS1, PLCH1-AS2, PLD1, POLR2H, PPM1L, PPP1R2, PRKCI, PSMD2, PTX3, PYDC2, RAP2B, RARRES1, RFC4, RNF168, RPL22L1, RPL35A, RPL39L, RSRC1, RTP1, RTP2, RTP4, RUBCN, SAMD7, SCARNA7, SCHIP1, SEC62, SENP2, SENP5, SERPINI1, SERPINI2, SHOX2, SI, SKIL, SLC2A2, SLC33A1, SLC51A, SLC7A14, SLC7A14-AS1, SLITRK3, SMC4, SMCO1, SNAR-I, SNORA4, SNORA63, SNORA63B, SNORA63D, SNORA63E, SNORA81, SNORD2, SNORD66, SOX2, SOX2-OT, SOX2-SRR2, SPATA16, SPTSSB, SSR3, SST, ST6GAL1, STRIT1, TBCCD1, TBL1XR1, TERC, TFRC, THPO, TIPARP, TIPARP-AS1, TM4SF19, TM4SF19-AS1, TM4SF19-DYNLT2B, TMEM207, TMEM212, TMEM212-AS1, TMEM41A, TMEM44, TMEM44-AS1, TNFSF10, TNIK, TNK2, TNK2-AS1, TP63, TPRG1, TPRG1-AS1, TPRG1-AS2, TRA2B, TRIM59, TRIM59-IFT80, TRV-AAC1-1, TTC14, TTC14-DT, UBXN7, UBXN7-AS1, UC.134, USP13, UTS2B, VEPH1, VPS8, VWA5B2, WDR49, WDR53, XXYLT1, XXYLT1-AS1, XXYLT1-AS2, YEATS2, YEATS2-AS1, ZBBX, ZDHHC19, ZMAT3, ZNF639
See casesPathogenic
(Jun 18, 2012)
no assertion criteria providedVCV000150609
4.
GRCh37:
Chr3:155836230-197851986
GRCh38:
Chr3:156118441-198125115
ABCC5, ABCC5-AS1, ABCF3, ACAP2, ACTL6A, ACTRT3, ADIPOQ, ADIPOQ-AS1, AHSG, ALG3, AP2M1, APOD, ARL14, ATP11B, ATP11B-DT, ATP13A3, ATP13A3-DT, ATP13A4, ATP13A4-AS1, ATP13A5, ATP13A5-AS1, B3GALNT1, B3GNT5, BCHE, BCL6, BDH1, C3orf70, C3orf80, CAMK2N2, CCDC39, CCDC50, CCNL1, CEP19, CHRD, CLCN2, CLDN1, CLDN11, CLDN16, CPN2, CRYGS, DCUN1D1, DGKG, DLG1, DLG1-AS1, DNAJB11, DNAJC19, DVL3, DYNLT2B, ECE2, ECT2, EEF1AKMT4, EEF1AKMT4-ECE2, EHHADH, EHHADH-AS1, EIF2B5, EIF2B5-DT, EIF4A2, EIF4G1, EIF5A2, EPHB3, ETV5, FAM131A, FAM43A, FBXO45, FETUB, FGF12, FGF12-AS1, FGF12-AS2, FGF12-AS3, FLJ42393, FNDC3B, FXR1, FYTTD1, GFM1, GHSR, GMNC, GNB4, GOLIM4, GP5, GPR160, HES1, HRG, HTR3C, HTR3D, HTR3E, HTR3E-AS1, IFT80, IGF2BP2, IGF2BP2-AS1, IL12A, IL12A-AS1, IL1RAP, IQCG, IQCJ, IQCJ-SCHIP1, IQCJ-SCHIP1-AS1, KCNAB1, KCNAB1-AS1, KCNAB1-AS2, KCNMB2, KCNMB2-AS1, KCNMB3, KLHL24, KLHL6, KLHL6-AS1, KNG1, KPNA4, LAMP3, LEKR1, LINC00501, LINC00578, LINC00880, LINC00881, LINC00885, LINC00886, LINC00887, LINC00888, LINC01014, LINC01063, LINC01100, LINC01192, LINC01206, LINC01208, LINC01209, LINC01322, LINC01324, LINC01327, LINC01839, LINC01840, LINC01968, LINC01972, LINC01983, LINC01991, LINC01994, LINC01995, LINC01997, LINC02012, LINC02013, LINC02015, LINC02020, LINC02023, LINC02026, LINC02028, LINC02029, LINC02031, LINC02036, LINC02037, LINC02038, LINC02041, LINC02043, LINC02048, LINC02052, LINC02053, LINC02054, LINC02067, LINC02068, LINC02069, LINC02082, LINCR-0002, LIPH, LMLN, LMLN-AS1, LOC100131635, LOC100287290, LOC101928882, LOC101929106, LOC101929130, LOC102724604, LOC105374194, LOC105374297, LOC106660625, LOC107133517, LOC107986163, LOC108281160, LOC108281177, LOC108449887, LOC110120606, LOC110120632, LOC110120723, LOC110120724, LOC110120734, LOC110120755, LOC110121064, LOC110121069, LOC110121092, LOC110121102, LOC110121110, LOC110121137, LOC110121144, LOC110121239, 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, LPP, LPP-AS1, LPP-AS2, LRCH3, LRRC15, LRRC31, LRRC34, LRRIQ4, LSG1, LXN, MAGEF1, MAP3K13, MAP6D1, MASP1, MB21D2, MCCC1, MCF2L2, MECOM, MECOM-AS1, MELTF, MELTF-AS1, MFN1, MFSD1, MGC2889, MIR1224, MIR1248, MIR1263, MIR15B, MIR16-2, MIR28, MIR3137, MIR3919, MIR4448, MIR4789, MIR4797, MIR548AQ, MIR551B, MIR5588, MIR569, MIR570, MIR570HG, MIR6828, MIR6829, MIR7977, MIR922, MIR944, MLF1, MLF1-DT, MRPL47, MUC20, MUC4, MYNN, NAALADL2, NAALADL2-AS1, NAALADL2-AS2, NAALADL2-AS3, NCBP2, NCBP2-AS1, NCBP2AS2, NCEH1, NDUFB5, NLGN1, NLGN1-AS1, NMD3, NRROS, OPA1, OPA1-AS1, OSTN, OSTN-AS1, OTOL1, P3H2, P3H2-AS1, PAK2, PARL, PCYT1A, PDCD10, PEX5L, PEX5L-AS2, PHC3, PIGX, PIGZ, PIK3CA, PIK3CA-DT, PLAAT1, PLD1, POLR2H, PPM1L, PPP1R2, PRKCI, PSMD2, PTX3, PYDC2, RARRES1, RFC4, RNF168, RPL22L1, RPL35A, RPL39L, RSRC1, RTP1, RTP2, RTP4, RUBCN, SAMD7, SCARNA7, SCHIP1, SEC62, SENP2, SENP5, SERPINI1, SERPINI2, SHOX2, SI, SKIL, SLC2A2, SLC51A, SLC7A14, SLC7A14-AS1, SLITRK3, SMC4, SMCO1, SNAR-I, SNORA4, SNORA63, SNORA63B, SNORA63D, SNORA63E, SNORA81, SNORD2, SNORD66, SOX2, SOX2-OT, SOX2-SRR2, SPATA16, SPTSSB, SSR3, SST, ST6GAL1, TBCCD1, TBL1XR1, TERC, TFRC, THPO, TIPARP, TIPARP-AS1, TM4SF19, TM4SF19-AS1, TM4SF19-DYNLT2B, TMEM207, TMEM212, TMEM212-AS1, TMEM41A, TMEM44, TMEM44-AS1, TNFSF10, TNIK, TNK2, TNK2-AS1, TP63, TPRG1, TPRG1-AS1, TPRG1-AS2, TRA2B, TRIM59, TRIM59-IFT80, TRV-AAC1-1, TTC14, TTC14-DT, UBXN7, UBXN7-AS1, UC.134, USP13, UTS2B, VEPH1, VPS8, VWA5B2, WDR49, WDR53, XXYLT1, XXYLT1-AS1, XXYLT1-AS2, YEATS2, YEATS2-AS1, ZBBX, ZDHHC19, ZMAT3, ZNF639
See casesPathogenic
(Mar 18, 2014)
no assertion criteria providedVCV000154213
5.
GRCh37:
Chr3:156039667-197840323
GRCh38:
Chr3:156321878-198113452
ABCC5, ABCC5-AS1, ABCF3, ACAP2, ACTL6A, ACTRT3, ADIPOQ, ADIPOQ-AS1, AHSG, ALG3, AP2M1, APOD, ARL14, ATP11B, ATP11B-DT, ATP13A3, ATP13A3-DT, ATP13A4, ATP13A4-AS1, ATP13A5, ATP13A5-AS1, B3GALNT1, B3GNT5, BCHE, BCL6, BDH1, C3orf70, C3orf80, CAMK2N2, CCDC39, CCDC50, CCNL1, CEP19, CHRD, CLCN2, CLDN1, CLDN11, CLDN16, CPN2, CRYGS, DCUN1D1, DGKG, DLG1, DLG1-AS1, DNAJB11, DNAJC19, DVL3, DYNLT2B, ECE2, ECT2, EEF1AKMT4, EEF1AKMT4-ECE2, EHHADH, EHHADH-AS1, EIF2B5, EIF2B5-DT, EIF4A2, EIF4G1, EIF5A2, EPHB3, ETV5, FAM131A, FAM43A, FBXO45, FETUB, FGF12, FGF12-AS1, FGF12-AS2, FGF12-AS3, FLJ42393, FNDC3B, FXR1, FYTTD1, GFM1, GHSR, GMNC, GNB4, GOLIM4, GP5, GPR160, HES1, HRG, HTR3C, HTR3D, HTR3E, HTR3E-AS1, IFT80, IGF2BP2, IGF2BP2-AS1, IL12A, IL12A-AS1, IL1RAP, IQCG, IQCJ, IQCJ-SCHIP1, IQCJ-SCHIP1-AS1, KCNAB1, KCNAB1-AS1, KCNMB2, KCNMB2-AS1, KCNMB3, KLHL24, KLHL6, KLHL6-AS1, KNG1, KPNA4, LAMP3, LEKR1, LINC00501, LINC00578, LINC00880, LINC00881, LINC00885, LINC00886, LINC00887, LINC00888, LINC01014, LINC01063, LINC01100, LINC01192, LINC01206, LINC01208, LINC01209, LINC01322, LINC01324, LINC01327, LINC01839, LINC01840, LINC01968, LINC01972, LINC01983, LINC01991, LINC01994, LINC01995, LINC01997, LINC02012, LINC02013, LINC02015, LINC02020, LINC02023, LINC02026, LINC02028, LINC02029, LINC02031, LINC02036, LINC02037, LINC02038, LINC02041, LINC02043, LINC02048, LINC02052, LINC02053, LINC02054, LINC02067, LINC02068, LINC02069, LINC02082, LINCR-0002, LIPH, LMLN, LMLN-AS1, LOC100131635, LOC100287290, LOC101928882, LOC101929106, LOC101929130, LOC102724604, LOC105374194, LOC105374297, LOC106660625, LOC107133517, LOC107986163, LOC108281160, LOC108281177, LOC108449887, LOC110120606, LOC110120632, LOC110120723, LOC110120724, LOC110120734, LOC110120755, LOC110121064, LOC110121069, LOC110121092, LOC110121102, LOC110121110, LOC110121137, LOC110121144, LOC110121239, 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, LPP, LPP-AS1, LPP-AS2, LRCH3, LRRC15, LRRC31, LRRC34, LRRIQ4, LSG1, LXN, MAGEF1, MAP3K13, MAP6D1, MASP1, MB21D2, MCCC1, MCF2L2, MECOM, MECOM-AS1, MELTF, MELTF-AS1, MFN1, MFSD1, MGC2889, MIR1224, MIR1248, MIR1263, MIR15B, MIR16-2, MIR28, MIR3137, MIR3919, MIR4448, MIR4789, MIR4797, MIR548AQ, MIR551B, MIR5588, MIR569, MIR570, MIR570HG, MIR6828, MIR6829, MIR7977, MIR922, MIR944, MLF1, MLF1-DT, MRPL47, MUC20, MUC4, MYNN, NAALADL2, NAALADL2-AS1, NAALADL2-AS2, NAALADL2-AS3, NCBP2, NCBP2-AS1, NCBP2AS2, NCEH1, NDUFB5, NLGN1, NLGN1-AS1, NMD3, NRROS, OPA1, OPA1-AS1, OSTN, OSTN-AS1, OTOL1, P3H2, P3H2-AS1, PAK2, PARL, PCYT1A, PDCD10, PEX5L, PEX5L-AS2, PHC3, PIGX, PIGZ, PIK3CA, PIK3CA-DT, PLAAT1, PLD1, POLR2H, PPM1L, PPP1R2, PRKCI, PSMD2, PTX3, PYDC2, RARRES1, RFC4, RNF168, RPL22L1, RPL35A, RPL39L, RSRC1, RTP1, RTP2, RTP4, RUBCN, SAMD7, SCARNA7, SCHIP1, SEC62, SENP2, SENP5, SERPINI1, SERPINI2, SHOX2, SI, SKIL, SLC2A2, SLC51A, SLC7A14, SLC7A14-AS1, SLITRK3, SMC4, SMCO1, SNAR-I, SNORA4, SNORA63, SNORA63B, SNORA63D, SNORA63E, SNORA81, SNORD2, SNORD66, SOX2, SOX2-OT, SOX2-SRR2, SPATA16, SPTSSB, SSR3, SST, ST6GAL1, TBCCD1, TBL1XR1, TERC, TFRC, THPO, TIPARP, TIPARP-AS1, TM4SF19, TM4SF19-AS1, TM4SF19-DYNLT2B, TMEM207, TMEM212, TMEM212-AS1, TMEM41A, TMEM44, TMEM44-AS1, TNFSF10, TNIK, TNK2, TNK2-AS1, TP63, TPRG1, TPRG1-AS1, TPRG1-AS2, TRA2B, TRIM59, TRIM59-IFT80, TRV-AAC1-1, TTC14, TTC14-DT, UBXN7, UBXN7-AS1, UC.134, USP13, UTS2B, VEPH1, VPS8, VWA5B2, WDR49, WDR53, XXYLT1, XXYLT1-AS1, XXYLT1-AS2, YEATS2, YEATS2-AS1, ZBBX, ZDHHC19, ZMAT3, ZNF639
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
LINC01997, LINC02012, LINC02013, LINC02015, LINC02020, LINC02026, LINC02028, LINC02031, LINC02036, LINC02037, LINC02038, LINC02041, LINC02043, LINC02048, LINC02052, LINC02053, LINC02054, LINC02068, LINC02069, LINC02082, LINCR-0002, LIPH, LMLN, LMLN-AS1, LOC100131635, LOC101928882, LOC101929106, LOC101929130, LOC102724604, LOC105374194, LOC105374297, LOC106660625, LOC107133517, LOC107986163, LOC108281160, LOC108281177, LOC110120606, LOC110120632, LOC110120734, LOC110121064, LOC110121069, LOC110121102, LOC110121110, LOC110121137, LOC110121144, 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, LPP, LPP-AS1, LPP-AS2, LRCH3, LRRC15, LRRC31, LRRC34, LRRIQ4, LSG1, MAGEF1, MAP3K13, MAP6D1, MASP1, MB21D2, MCCC1, MCF2L2, MECOM, MECOM-AS1, MELTF, MELTF-AS1, MFN1, MGC2889, MIR1224, MIR1248, MIR28, MIR3137, MIR4448, MIR4789, MIR4797, MIR548AQ, MIR551B, MIR5588, MIR569, MIR570, NAALADL2-AS1, NAALADL2-AS2, MIR570HG, MIR6828, MIR6829, MIR7977, MIR922, MIR944, MRPL47, MUC20, MUC4, MYNN, NAALADL2, NAALADL2-AS3, NCBP2, NCBP2-AS1, NCBP2AS2, NCEH1, NDUFB5, NLGN1, NLGN1-AS1, NRROS, OPA1, OPA1-AS1, OSTN, OSTN-AS1, P3H2, P3H2-AS1, PAK2, PARL, PCYT1A, PDCD10, PEX5L, PEX5L-AS2, PHC3, PIGX, PIGZ, PIK3CA, PIK3CA-DT, PLAAT1, PLD1, POLR2H, PPP1R2, PRKCI, PSMD2, PYDC2, RFC4, RNF168, RPL22L1, RPL35A, RPL39L, RTP1, RTP2, RTP4, RUBCN, SAMD7, SEC62, SENP2, SENP5, SERPINI1, SERPINI2, SKIL, SLC2A2, SLC51A, SLC7A14, SLC7A14-AS1, SMCO1, SNAR-I, SNORA4, SNORA63, SNORA63B, SNORA63D, SNORA63E, SNORA81, SNORD2, SNORD66, SOX2, SOX2-OT, SOX2-SRR2, SPATA16, SST, ST6GAL1, TBCCD1, TBL1XR1, TERC, TFRC, THPO, TM4SF19, TM4SF19-AS1, TM4SF19-DYNLT2B, TMEM207, TMEM212, TMEM212-AS1, TMEM41A, TMEM44, TMEM44-AS1, TNFSF10, TNIK, TNK2, TNK2-AS1, TP63, TPRG1, TPRG1-AS1, TPRG1-AS2, TRA2B, TRV-AAC1-1, TTC14, TTC14-DT, UBXN7, UBXN7-AS1, USP13, UTS2B, VPS8, VWA5B2, WDR49, WDR53, XXYLT1, XXYLT1-AS1, XXYLT1-AS2, YEATS2, YEATS2-AS1, ZBBX, ZDHHC19, ZMAT3, ZNF639, ABCC5, ABCC5-AS1, ABCF3, ACAP2, ACTL6A, ACTRT3, ADIPOQ, ADIPOQ-AS1, AHSG, ALG3, AP2M1, APOD, ATP11B, ATP11B-DT, ATP13A3, ATP13A3-DT, ATP13A4, ATP13A4-AS1, ATP13A5, ATP13A5-AS1, B3GNT5, BCL6, BDH1, C3orf70, CAMK2N2, CCDC39, CCDC50, CEP19, CHRD, CLCN2, CLDN1, CLDN11, CLDN16, CPN2, CRYGS, DCUN1D1, DGKG, DLG1, DLG1-AS1, DNAJB11, DNAJC19, DVL3, DYNLT2B, ECE2, ECT2, EEF1AKMT4, EEF1AKMT4-ECE2, EHHADH, EHHADH-AS1, EIF2B5, EIF2B5-DT, EIF4A2, EIF4G1, EIF5A2, EPHB3, ETV5, FAM131A, FAM43A, FBXO45, FETUB, FGF12, FGF12-AS1, FGF12-AS2, FGF12-AS3, FLJ42393, FNDC3B, FXR1, FYTTD1, GHSR, GMNC, GNB4, GOLIM4, GP5, GPR160, HES1, HRG, HTR3C, HTR3D, HTR3E, HTR3E-AS1, IGF2BP2, IGF2BP2-AS1, IL1RAP, IQCG, KCNMB2, KCNMB2-AS1, KCNMB3, KLHL24, KLHL6, KLHL6-AS1, KNG1, LAMP3, LINC00501, LINC00578, LINC00885, LINC00887, LINC00888, LINC01014, LINC01063, LINC01206, LINC01208, LINC01209, LINC01327, LINC01839, LINC01840, LINC01968, LINC01972, LINC01983, LINC01991, LINC01994, LINC01995
See casesPathogenic
(Dec 3, 2013)
no assertion criteria providedVCV000155627
8.
GRCh37:
Chr3:167885356-197837049
GRCh38:
Chr3:168167568-198110178
ABCC5, ABCC5-AS1, ABCF3, ACAP2, ACTL6A, ACTRT3, ADIPOQ, ADIPOQ-AS1, AHSG, ALG3, AP2M1, APOD, ATP11B, ATP11B-DT, ATP13A3, ATP13A3-DT, ATP13A4, ATP13A4-AS1, ATP13A5, ATP13A5-AS1, B3GNT5, BCL6, BDH1, C3orf70, CAMK2N2, CCDC39, CCDC50, CEP19, CHRD, CLCN2, CLDN1, CLDN11, CLDN16, CPN2, CRYGS, DCUN1D1, DGKG, DLG1, DLG1-AS1, DNAJB11, DNAJC19, DVL3, DYNLT2B, ECE2, ECT2, EEF1AKMT4, EEF1AKMT4-ECE2, EHHADH, EHHADH-AS1, EIF2B5, EIF2B5-DT, EIF4A2, EIF4G1, EIF5A2, EPHB3, ETV5, FAM131A, FAM43A, FBXO45, FETUB, FGF12, FGF12-AS1, FGF12-AS2, FGF12-AS3, FLJ42393, FNDC3B, FXR1, FYTTD1, GHSR, GMNC, GNB4, GP5, GPR160, HES1, HRG, HTR3C, HTR3D, HTR3E, HTR3E-AS1, IGF2BP2, IGF2BP2-AS1, IL1RAP, IQCG, KCNMB2, KCNMB2-AS1, KCNMB3, KLHL24, KLHL6, KLHL6-AS1, KNG1, LAMP3, LINC00501, LINC00578, LINC00885, LINC00887, LINC00888, LINC01014, LINC01063, LINC01206, LINC01208, LINC01209, LINC01839, LINC01840, LINC01968, LINC01972, LINC01983, LINC01991, LINC01994, LINC01995, LINC01997, LINC02012, LINC02013, LINC02015, LINC02020, LINC02026, LINC02028, LINC02031, LINC02036, LINC02037, LINC02038, LINC02041, LINC02043, LINC02048, LINC02052, LINC02053, LINC02054, LINC02068, LINC02069, LINC02082, LINCR-0002, LIPH, LMLN, LMLN-AS1, LOC100131635, LOC101928882, LOC101929106, LOC101929130, LOC102724604, LOC105374297, LOC106660625, LOC107133517, LOC107986163, LOC108281160, LOC108281177, LOC110120606, LOC110120632, LOC110120734, LOC110121064, LOC110121069, LOC110121102, LOC110121110, LOC110121137, LOC110121144, 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, LPP, LPP-AS1, LPP-AS2, LRCH3, LRRC15, LRRC31, LRRC34, LRRIQ4, LSG1, MAGEF1, MAP3K13, MAP6D1, MASP1, MB21D2, MCCC1, MCF2L2, MECOM, MECOM-AS1, MELTF, MELTF-AS1, MFN1, MGC2889, MIR1224, MIR1248, MIR28, MIR3137, MIR4448, MIR4789, MIR4797, MIR548AQ, MIR551B, MIR5588, MIR569, MIR570, NAALADL2-AS1, NAALADL2-AS2, MIR570HG, MIR6828, MIR6829, MIR7977, MIR922, MIR944, MRPL47, MUC20, MUC4, MYNN, NAALADL2, NAALADL2-AS3, NCBP2, NCBP2-AS1, NCBP2AS2, NCEH1, NDUFB5, NLGN1, NLGN1-AS1, NRROS, OPA1, OPA1-AS1, OSTN, OSTN-AS1, P3H2, P3H2-AS1, PAK2, PARL, PCYT1A, PEX5L, PEX5L-AS2, PHC3, PIGX, PIGZ, PIK3CA, PIK3CA-DT, PLAAT1, PLD1, POLR2H, PPP1R2, PRKCI, PSMD2, PYDC2, RFC4, RNF168, RPL22L1, RPL35A, RPL39L, RTP1, RTP2, RTP4, RUBCN, SAMD7, SEC62, SENP2, SENP5, SKIL, SLC2A2, SLC51A, SLC7A14, SLC7A14-AS1, SMCO1, SNAR-I, SNORA4, SNORA63, SNORA63B, SNORA63D, SNORA63E, SNORA81, SNORD2, SNORD66, SOX2, SOX2-OT, SOX2-SRR2, SPATA16, SST, ST6GAL1, TBCCD1, TBL1XR1, TERC, TFRC, THPO, TM4SF19, TM4SF19-AS1, TM4SF19-DYNLT2B, TMEM207, TMEM212, TMEM212-AS1, TMEM41A, TMEM44, TMEM44-AS1, TNFSF10, TNIK, TNK2, TNK2-AS1, TP63, TPRG1, TPRG1-AS1, TPRG1-AS2, TRA2B, TRV-AAC1-1, TTC14, TTC14-DT, UBXN7, UBXN7-AS1, USP13, UTS2B, VPS8, VWA5B2, WDR53, XXYLT1, XXYLT1-AS1, XXYLT1-AS2, YEATS2, YEATS2-AS1, ZDHHC19, ZMAT3, ZNF639
See casesPathogenic
(Dec 22, 2010)
no assertion criteria providedVCV000148012
9.
GRCh37:
Chr3:175886313-197845254
GRCh38:
Chr3:176168525-198118383
ABCC5, ABCC5-AS1, ABCF3, ACAP2, ACTL6A, ADIPOQ, ADIPOQ-AS1, AHSG, ALG3, AP2M1, APOD, ATP11B, ATP11B-DT, ATP13A3, ATP13A3-DT, ATP13A4, ATP13A4-AS1, ATP13A5, ATP13A5-AS1, B3GNT5, BCL6, BDH1, C3orf70, CAMK2N2, CCDC39, CCDC50, CEP19, CHRD, CLCN2, CLDN1, CLDN16, CPN2, CRYGS, DCUN1D1, DGKG, DLG1, DLG1-AS1, DNAJB11, DNAJC19, DVL3, DYNLT2B, ECE2, EEF1AKMT4, EEF1AKMT4-ECE2, EHHADH, EHHADH-AS1, EIF2B5, EIF2B5-DT, EIF4A2, EIF4G1, EPHB3, ETV5, FAM131A, FAM43A, FBXO45, FETUB, FGF12, FGF12-AS1, FGF12-AS2, FGF12-AS3, FLJ42393, FXR1, FYTTD1, GMNC, GNB4, GP5, HES1, HRG, HTR3C, HTR3D, HTR3E, HTR3E-AS1, IGF2BP2, IGF2BP2-AS1, IL1RAP, IQCG, KCNMB2, KCNMB2-AS1, KCNMB3, KLHL24, KLHL6, KLHL6-AS1, KNG1, LAMP3, LINC00501, LINC00578, LINC00885, LINC00887, LINC00888, LINC01014, LINC01063, LINC01206, LINC01208, LINC01209, LINC01839, LINC01840, LINC01968, LINC01972, LINC01983, LINC01991, LINC01994, LINC01995, LINC02012, LINC02013, LINC02015, LINC02020, LINC02026, LINC02028, LINC02031, LINC02036, LINC02037, LINC02038, LINC02041, LINC02043, LINC02048, LINC02052, LINC02053, LINC02054, LINC02069, LINCR-0002, LIPH, LMLN, LMLN-AS1, LOC100131635, LOC101928882, LOC101929106, LOC101929130, LOC102724604, LOC105374297, LOC106660625, LOC107133517, LOC107986163, LOC108281160, LOC108281177, LOC110120606, LOC110120632, LOC110120734, LOC110121064, LOC110121069, LOC110121110, LOC110121137, LOC110121144, 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, LPP, LPP-AS1, LPP-AS2, LRCH3, LRRC15, LSG1, MAGEF1, MAP3K13, MAP6D1, MASP1, MB21D2, MCCC1, MCF2L2, MELTF, MELTF-AS1, MFN1, MGC2889, MIR1224, MIR1248, MIR28, MIR3137, MIR4448, MIR4797, MIR548AQ, MIR5588, MIR944, MRPL47, MIR570, MIR570HG, MIR6829, MIR7977, MIR922, MUC20, MUC4, NCBP2, NCBP2-AS1, NCBP2AS2, NDUFB5, NRROS, OPA1, OPA1-AS1, OSTN, OSTN-AS1, P3H2, P3H2-AS1, PAK2, PARL, PCYT1A, PEX5L, PEX5L-AS2, PIGX, PIGZ, PIK3CA, PIK3CA-DT, PLAAT1, POLR2H, PPP1R2, PSMD2, PYDC2, RFC4, RNF168, RPL35A, RPL39L, RTP1, RTP2, RTP4, RUBCN, SENP2, SENP5, SLC51A, SMCO1, SNAR-I, SNORA4, SNORA63, SNORA63B, SNORA63D, SNORA63E, SNORA81, SNORD2, SNORD66, SOX2, SOX2-OT, SOX2-SRR2, SST, ST6GAL1, TBCCD1, TBL1XR1, TFRC, THPO, TM4SF19, TM4SF19-AS1, TM4SF19-DYNLT2B, TMEM207, TMEM41A, TMEM44, TMEM44-AS1, TNK2, TNK2-AS1, TP63, TPRG1, TPRG1-AS1, TPRG1-AS2, TRA2B, TTC14, TTC14-DT, UBXN7, UBXN7-AS1, USP13, UTS2B, VPS8, VWA5B2, WDR53, XXYLT1, XXYLT1-AS1, XXYLT1-AS2, YEATS2, YEATS2-AS1, ZDHHC19, ZMAT3, ZNF639
See casesPathogenic
(Jul 9, 2012)
no assertion criteria providedVCV000149685
10.
GRCh37:
Chr3:176157699-197845254
GRCh38:
Chr3:176439911-198118383
ABCC5, ABCC5-AS1, ABCF3, ACAP2, ACTL6A, ADIPOQ, ADIPOQ-AS1, AHSG, ALG3, AP2M1, APOD, ATP11B, ATP11B-DT, ATP13A3, ATP13A3-DT, ATP13A4, ATP13A4-AS1, ATP13A5, ATP13A5-AS1, B3GNT5, BCL6, BDH1, C3orf70, CAMK2N2, CCDC39, CCDC50, CEP19, CHRD, CLCN2, CLDN1, CLDN16, CPN2, CRYGS, DCUN1D1, DGKG, DLG1, DLG1-AS1, DNAJB11, DNAJC19, DVL3, DYNLT2B, ECE2, EEF1AKMT4, EEF1AKMT4-ECE2, EHHADH, EHHADH-AS1, EIF2B5, EIF2B5-DT, EIF4A2, EIF4G1, EPHB3, ETV5, FAM131A, FAM43A, FBXO45, FETUB, FGF12, FGF12-AS1, FGF12-AS2, FGF12-AS3, FLJ42393, FXR1, FYTTD1, GMNC, GNB4, GP5, HES1, HRG, HTR3C, HTR3D, HTR3E, HTR3E-AS1, IGF2BP2, IGF2BP2-AS1, IL1RAP, IQCG, KCNMB2, KCNMB2-AS1, KCNMB3, KLHL24, KLHL6, KLHL6-AS1, KNG1, LAMP3, LINC00501, LINC00578, LINC00885, LINC00887, LINC00888, LINC01014, LINC01063, LINC01206, LINC01208, LINC01209, LINC01839, LINC01840, LINC01968, LINC01972, LINC01983, LINC01991, LINC01994, LINC01995, LINC02012, LINC02013, LINC02015, LINC02020, LINC02026, LINC02028, LINC02031, LINC02036, LINC02037, LINC02038, LINC02041, LINC02043, LINC02048, LINC02052, LINC02053, LINC02054, LINC02069, LINCR-0002, LIPH, LMLN, LMLN-AS1, LOC100131635, LOC101928882, LOC101929106, LOC101929130, LOC102724604, LOC105374297, LOC106660625, LOC107133517, LOC107986163, LOC108281160, LOC108281177, LOC110120606, LOC110120632, LOC110120734, LOC110121064, LOC110121069, LOC110121110, LOC110121137, LOC110121144, 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, LPP, LPP-AS1, LPP-AS2, LRCH3, LRRC15, LSG1, MAGEF1, MAP3K13, MAP6D1, MASP1, MB21D2, MCCC1, MCF2L2, MELTF, MELTF-AS1, MFN1, MGC2889, MIR1224, MIR1248, MIR28, MIR3137, MIR4448, MIR4797, MIR548AQ, MIR5588, MIR570, MIR570HG, MIR6829, MIR7977, MIR922, MIR944, MRPL47, MUC20, MUC4, NCBP2, NCBP2-AS1, NCBP2AS2, NDUFB5, NRROS, OPA1, OPA1-AS1, OSTN, OSTN-AS1, P3H2, P3H2-AS1, PAK2, PARL, PCYT1A, PEX5L, PEX5L-AS2, PIGX, PIGZ, PIK3CA, PIK3CA-DT, PLAAT1, POLR2H, PPP1R2, PSMD2, PYDC2, RFC4, RNF168, RPL35A, RPL39L, RTP1, RTP2, RTP4, RUBCN, SENP2, SENP5, SLC51A, SMCO1, SNAR-I, SNORA4, SNORA63, SNORA63B, SNORA63D, SNORA63E, SNORA81, SNORD2, SNORD66, SOX2, SOX2-OT, SOX2-SRR2, SST, ST6GAL1, TBCCD1, TBL1XR1, TFRC, THPO, TM4SF19, TM4SF19-AS1, TM4SF19-DYNLT2B, TMEM207, TMEM41A, TMEM44, TMEM44-AS1, TNK2, TNK2-AS1, TP63, TPRG1, TPRG1-AS1, TPRG1-AS2, TRA2B, TTC14, TTC14-DT, UBXN7, UBXN7-AS1, USP13, UTS2B, VPS8, VWA5B2, WDR53, XXYLT1, XXYLT1-AS1, XXYLT1-AS2, YEATS2, YEATS2-AS1, ZDHHC19, ZMAT3, ZNF639
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