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Items: 1 to 100 of 131

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr3:103145726-197837049
GRCh38:
Chr3:103426882-198110178
A4GNT, AADAC, AADACL2, AADACL2-AS1, ABCC5, ABCC5-AS1, ABCF3, ABHD10, ABTB1, ACAD11, ACAD9, ACAD9-DT, ACAP2, ACKR4, ACP3, ACTL6A, ACTRT3, ADCY5, ZDHHC23, ZNF80, ZIC1, ZIC4, ZIC4-AS1, ZMAT3, ZNF148, ZNF639, ZXDC, 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, CCDC54-AS1, 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, HRG-AS1, 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, LIPH, LMLN, LMLN-AS1, LNCSRLR, LOC100131635, LOC100287290, LOC100289361, LOC100507389, LOC101926968, LOC101928105, LOC101928166, LOC101928882, LOC101929106, LOC101929130, 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, LOC112268458, 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, LOC121725153, LOC121725154, LOC121725155, LOC121725156, LOC121725157, LOC121725158, LOC121725159, LOC121725160, LOC121725161, LOC121725162, LOC121725163, LOC121725164, LOC121725165, LOC121725166, LOC121725167, LOC122526776, LOC123002325, LOC123002326, LOC123002327, LOC123002328, LOC123002329, LOC123002330, LOC123002331, LOC123038158, LOC123038159, LOC123038160, LOC123038161, LOC123038162, LOC123038163, LOC123038164, LOC123038165, LOC123038166, LOC123038167, LOC123038168, LOC123038169, LOC123038170, LOC123038171, LOC123038172, LOC123038173, LOC123038174, LOC123038175, LOC123038176, LOC123038177, LOC123038178, LOC123038179, LOC123038180, LOC123038181, LOC123038182, LOC123038183, LOC123038184, LOC123038185, LOC123038186, LOC123038187, LOC123038188, LOC123038189, LOC123038190, LOC123038191, LOC123038192, LOC123038193, LOC123038194, LOC123038195, LOC123192011, LOC123192012, LOC123192013, LOC123192014, LOC123192015, LOC123192016, LOC123192017, LOC123192018, LOC123192019, LOC123192020, LOC123192021, LOC123230394, LOC123230395, LOC123230396, LOC123230397, LOC123230398, LOC123230399, LOC123230400, LOC123230401, LOC123230402, LOC123230405, LOC123230406, LOC123230407, LOC123230408, LOC123230409, LOC123230410, LOC123230411, LOC123230412, LOC123230413, LOC123230414, LOC123230415, LOC123256940, LOC123256941, LOC123256942, LOC123256943, LOC123256944, LOC123256945, LOC123256946, LOC123256947, LOC123256948, LOC123256949, LOC123256950, LOC123256951, LOC123256952, LOC123256953, LOC123256954, LOC123256955, LOC123453198, LOC123453199, LOC123453200, LOC123453201, LOC123453202, LOC123453203, LOC123464470, LOC123464471, LOC123464472, LOC123464473, LOC123464474, LOC123464476, LOC123464477, LOC123464478, LOC123464479, LOC123464480, LOC123464481, LOC123464482, LOC123464483, LOC123464484, LOC123464485, LOC123464486, LOC123464487, LOC123464488, LOC123464489, LOC123464490, LOC123464491, LOC123464492, LOC123464493, LOC123464494, LOC123464495, LOC123464496, LOC123464497, LOC123464498, LOC123464499, LOC123464500, LOC123464501, LOC123464502, LOC123464503, LOC123464504, LOC123464505, LOC123464506, LOC124909494, 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, PYDC2-AS1, 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, SIAH2-AS1, 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, TBL1XR1-AS1, 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, WWTR1-IT1, XRN1, XXYLT1, XXYLT1-AS1, XXYLT1-AS2, YEATS2, YEATS2-AS1, ZBBX, ZBED2, ZBTB20, ZBTB20-AS1, ZBTB20-AS3, ZBTB20-AS4, ZBTB20-AS5, ZBTB38, ZDHHC19
See casesPathogenic
(Jan 5, 2011)
no assertion criteria provided
2.
GRCh37:
Chr3:133976022-149447325
GRCh38:
Chr3:134257180-149729538
A4GNT, AGTR1, AMOTL2, ANAPC13, ARMC8, ATP1B3, ATR, BPESC1, CEP63, CEP70, CHST2, CLDN18, CLSTN2, CLSTN2-AS1, COPB2, COPB2-DT, CP, CPA3, CPB1, DBR1, DIPK2A, DZIP1L, EPHB1, ESYT3, FAIM, FOXL2, FOXL2NB, GK5, GRK7, GYG1, HLTF, HLTF-AS1, HPS3, IL20RB, IL20RB-AS1, KY, LINC01210, LINC01391, LINC02004, LINC02010, LINC02032, LINC02045, LINC02046, LINC02618, LNCSRLR, LOC100289361, LOC100507389, LOC108281117, LOC110120612, LOC110120613, LOC110120614, LOC110120615, LOC110120732, LOC110120733, LOC110120785, LOC110120973, LOC110120993, LOC110121014, LOC110121026, LOC110121033, LOC110121146, LOC110121244, LOC111464993, LOC112903838, LOC112903839, LOC112903840, LOC112903842, LOC112935896, LOC115995522, LOC115995523, LOC115995524, LOC115995525, LOC115995526, LOC121048710, LOC121048711, LOC121048712, LOC121048713, LOC121048714, LOC121048715, LOC121048716, LOC121048717, LOC121048718, LOC123038186, LOC123038187, LOC123038188, LOC123038189, LOC123038190, LOC123038191, LOC123038192, LOC123038193, LOC123038194, LOC123038195, LOC123192011, LOC123192012, LOC123192013, LOC123192014, LOC123192015, LOC124909494, LOC440982, MIR4788, MIR6827, MRAS, MRPS22, MSL2, NCK1, NCK1-DT, NME9, NMNAT3, PAQR9, PAQR9-AS1, PCCB, PCOLCE2, PIK3CB, PISRT1, PLOD2, PLS1, PLSCR1, PLSCR2, PLSCR4, PLSCR5, PPP2R3A, PRR23A, PRR23B, PRR23C, PXYLP1, RASA2, RBP1, RBP2, RNF7, SLC25A36, SLC35G2, SLC9A9, SLC9A9-AS1, SOX14, SPSB4, STAG1, TFDP2, TM4SF1, TM4SF1-AS1, TM4SF18, TM4SF4, TRIM42, TRPC1, U2SURP, WWTR1, WWTR1-AS1, WWTR1-IT1, XRN1, ZBTB38, ZIC1, ZIC4, ZIC4-AS1
See casesPathogenic
(Jan 31, 2012)
no assertion criteria provided
3.
GRCh37:
Chr3:147160353-178240319
GRCh38:
Chr3:147442566-178522531
AADAC, AADACL2, AADACL2-AS1, ACTRT3, AGTR1, ANKUB1, ARHGEF26, ARHGEF26-AS1, ARL14, B3GALNT1, BCHE, C3orf33, C3orf80, CCNL1, CLDN11, CLRN1, CLRN1-AS1, COMMD2, CP, CPA3, CPB1, DHX36, ECT2, EIF2A, EIF5A2, ERICH6, ERICH6-AS1, FNDC3B, GFM1, GHSR, GMPS, GOLIM4, GPR149, GPR160, GPR171, GPR87, GYG1, HLTF, HLTF-AS1, HPS3, IFT80, IGSF10, IL12A, IL12A-AS1, IQCJ, IQCJ-SCHIP1, IQCJ-SCHIP1-AS1, KCNAB1, KCNAB1-AS1, KCNAB1-AS2, KPNA4, LEKR1, LINC00501, LINC00578, LINC00880, LINC00881, LINC00886, LINC01014, LINC01100, LINC01192, LINC01208, LINC01209, LINC01213, LINC01214, LINC01322, LINC01324, LINC01327, LINC01487, LINC01997, LINC01998, LINC02006, LINC02015, LINC02023, LINC02029, LINC02032, LINC02045, LINC02046, LINC02066, LINC02067, LINC02068, LINC02082, LINC02877, LOC100287290, LOC101928105, LOC101928166, LOC105374194, LOC105374313, LOC108449887, LOC110120723, LOC110120724, LOC110120733, LOC110120755, LOC110120993, LOC110121014, LOC110121026, LOC110121033, LOC110121092, LOC110121102, LOC110121146, LOC110121239, LOC110806306, LOC111365195, LOC111413008, LOC111464993, LOC112935896, LOC112935897, LOC112935898, LOC112935899, LOC112935900, LOC112935901, LOC112935904, LOC112935905, LOC112935906, LOC112935907, LOC112935908, LOC112935909, LOC112935910, LOC112935911, LOC112935912, LOC114004375, LOC114827819, LOC114827826, LOC114827843, LOC115995527, LOC115995528, LOC115995529, LOC115995530, LOC115995531, LOC115995532, LOC121048717, LOC121048718, LOC121048719, LOC121048720, LOC121048721, LOC121048722, LOC121048723, LOC121725156, LOC121725157, LOC121725158, LOC121725159, LOC121725160, LOC121725161, LOC121725162, LOC121725163, LOC121725164, LOC123192012, LOC123192013, LOC123192014, LOC123192015, LOC123192016, LOC123192017, LOC123192018, LOC123192019, LOC123192020, LOC123192021, LOC123230394, LOC123230395, LOC123230396, LOC123230397, LOC123230398, LOC123230399, LOC123230400, LOC123230401, LOC123230402, LOC123230405, LOC123230406, LOC123230407, LOC123230408, LOC123230409, LOC123230410, LOC123230411, LOC123230412, LOC123230413, LOC123230414, LOC123230415, LOC123256940, LOC123256941, LOC123256942, LOC123256943, LOC123256944, LOC123256945, LOC123256946, LOC123256947, LOC123256948, LOC123256949, LOC123256950, LOC123256951, LOC440982, LOC646903, LRRC31, LRRC34, LRRIQ4, LXN, MBNL1, MBNL1-AS1, MECOM, MECOM-AS1, MED12L, MFSD1, MINDY4B, MIR1263, MIR15B, MIR16-2, MIR3919, MIR4789, MIR5186, MIR551B, MIR569, MIR6828, MIR7977, MLF1, MLF1-DT, MME, MYNN, NAALADL2, NAALADL2-AS1, NAALADL2-AS2, NAALADL2-AS3, NCEH1, NLGN1, NLGN1-AS1, NMD3, OTOL1, P2RY1, P2RY12, P2RY13, P2RY14, PDCD10, PFN2, PHC3, PLCH1, PLCH1-AS1, PLCH1-AS2, PLD1, PPM1L, PRKCI, PTX3, RAP2B, RARRES1, RNF13, RPL22L1, RSRC1, SAMD7, SCARNA7, SCHIP1, SEC62, SELENOT, SERP1, SERPINI1, SERPINI2, SHOX2, SI, SIAH2, SIAH2-AS1, SKIL, SLC2A2, SLC33A1, SLC7A14, SLC7A14-AS1, SLITRK3, SMC4, SPATA16, SPTSSB, SSR3, STRIT1, SUCNR1, TBL1XR1, TBL1XR1-AS1, TERC, TIPARP, TIPARP-AS1, TM4SF1, TM4SF1-AS1, TM4SF18, TM4SF4, TMEM212, TMEM212-AS1, TNFSF10, TNIK, TRIM59, TRIM59-IFT80, TRV-AAC1-1, TSC22D2, UC.134, VEPH1, WDR49, WWTR1, WWTR1-AS1, WWTR1-IT1, ZBBX
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
4.
GRCh37:
Chr3:147239679-197823436
GRCh38:
Chr3:147521892-198096565
MBNL1-AS1, MCCC1, MCF2L2, MECOM, MECOM-AS1, MED12L, MELTF, MELTF-AS1, MFN1, MFSD1, MGC2889, MINDY4B, MIR1224, MIR1248, MIR1263, MIR15B, MIR16-2, MIR28, MIR3137, MIR3919, MIR4448, MIR4789, MIR4797, MIR5186, 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, P2RY12, P2RY13, P2RY14, P3H2, P3H2-AS1, PAK2, PARL, PCYT1A, PDCD10, PEX5L, PEX5L-AS2, PFN2, PHC3, PIGX, PIGZ, PIK3CA, PIK3CA-DT, PLAAT1, PLCH1, PLCH1-AS1, PLCH1-AS2, PLD1, POLR2H, PPM1L, PPP1R2, PRKCI, PSMD2, PTX3, PYDC2, PYDC2-AS1, RAP2B, RARRES1, RFC4, RNF13, RNF168, RPL22L1, RPL35A, RPL39L, RSRC1, RTP1, RTP2, RTP4, RUBCN, SAMD7, SCARNA7, SCHIP1, SEC62, SELENOT, SENP2, SENP5, SERP1, SERPINI1, SERPINI2, SHOX2, SI, SIAH2, SIAH2-AS1, 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, SUCNR1, TBCCD1, TBL1XR1, TBL1XR1-AS1, TERC, TFRC, THPO, TIPARP, TIPARP-AS1, TM4SF1, TM4SF1-AS1, TM4SF18, TM4SF19, TM4SF19-AS1, TM4SF19-DYNLT2B, TM4SF4, 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, TSC22D2, TTC14, TTC14-DT, UBXN7, UBXN7-AS1, UC.134, USP13, UTS2B, VEPH1, VPS8, VWA5B2, WDR49, WDR53, WWTR1, WWTR1-AS1, WWTR1-IT1, XXYLT1, XXYLT1-AS1, XXYLT1-AS2, YEATS2, YEATS2-AS1, ZBBX, ZDHHC19, ZMAT3, ZNF639, AADAC, AADACL2, AADACL2-AS1, ABCC5, ABCC5-AS1, ABCF3, ACAP2, ACTL6A, ACTRT3, ADIPOQ, ADIPOQ-AS1, AGTR1, AHSG, ALG3, ANKUB1, 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, CLRN1, CLRN1-AS1, COMMD2, CP, CPA3, CPB1, CPN2, CRYGS, DCUN1D1, DGKG, DHX36, DLG1, DLG1-AS1, DNAJB11, DNAJC19, DVL3, DYNLT2B, ECE2, ECT2, EEF1AKMT4, EEF1AKMT4-ECE2, EHHADH, EHHADH-AS1, EIF2A, EIF2B5, EIF2B5-DT, EIF4A2, EIF4G1, EIF5A2, EPHB3, ERICH6, ERICH6-AS1, 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, GPR171, GPR87, GYG1, HES1, HLTF, HLTF-AS1, HPS3, HRG, HRG-AS1, HTR3C, HTR3D, HTR3E, HTR3E-AS1, IFT80, IGF2BP2, IGF2BP2-AS1, IGSF10, 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, LINC01213, LINC01214, LINC01322, LINC01324, LINC01327, LINC01487, LINC01839, LINC01840, LINC01968, LINC01972, LINC01983, LINC01991, LINC01994, LINC01995, LINC01997, LINC01998, LINC02006, LINC02012, LINC02013, LINC02015, LINC02020, LINC02023, LINC02026, LINC02028, LINC02029, LINC02031, LINC02032, LINC02036, LINC02037, LINC02038, LINC02041, LINC02043, LINC02045, LINC02046, LINC02048, LINC02052, LINC02053, LINC02054, LINC02066, LINC02067, LINC02068, LINC02069, LINC02082, LINC02877, LIPH, LMLN, LMLN-AS1, LOC100131635, LOC100287290, LOC101928105, LOC101928166, LOC101928882, LOC101929106, LOC101929130, LOC102724604, LOC105374194, LOC105374297, LOC105374313, LOC106660625, LOC107133517, LOC107986163, LOC108281160, LOC108281177, LOC108449887, LOC110120606, LOC110120632, LOC110120723, LOC110120724, LOC110120733, LOC110120734, LOC110120755, LOC110120993, LOC110121014, LOC110121026, LOC110121033, LOC110121064, LOC110121069, LOC110121092, LOC110121102, LOC110121110, LOC110121137, LOC110121144, LOC110121146, LOC110121239, LOC110806306, LOC111162620, LOC111162621, LOC111242783, LOC111242785, LOC111365195, LOC111413008, LOC111464993, LOC111828515, LOC112268458, 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, LOC121725156, LOC121725157, LOC121725158, LOC121725159, LOC121725160, LOC121725161, LOC121725162, LOC121725163, LOC121725164, LOC121725165, LOC121725166, LOC121725167, LOC122526776, LOC123192012, LOC123192013, LOC123192014, LOC123192015, LOC123192016, LOC123192017, LOC123192018, LOC123192019, LOC123192020, LOC123192021, LOC123230394, LOC123230395, LOC123230396, LOC123230397, LOC123230398, LOC123230399, LOC123230400, LOC123230401, LOC123230402, LOC123230405, LOC123230406, LOC123230407, LOC123230408, LOC123230409, LOC123230410, LOC123230411, LOC123230412, LOC123230413, LOC123230414, LOC123230415, LOC123256940, LOC123256941, LOC123256942, LOC123256943, LOC123256944, LOC123256945, LOC123256946, LOC123256947, LOC123256948, LOC123256949, LOC123256950, LOC123256951, LOC123256952, LOC123256953, LOC123256954, LOC123256955, LOC123453198, LOC123453199, LOC123453200, LOC123453201, LOC123453202, LOC123453203, LOC123464470, LOC123464471, LOC123464472, LOC123464473, LOC123464474, LOC123464476, LOC123464477, LOC123464478, LOC123464479, LOC123464480, LOC123464481, LOC123464482, LOC123464483, LOC123464484, LOC123464485, LOC123464486, LOC123464487, LOC123464488, LOC123464489, LOC123464490, LOC123464491, LOC123464492, LOC123464493, LOC123464494, LOC123464495, LOC123464496, LOC123464497, LOC123464498, LOC123464499, LOC123464500, LOC123464501, LOC123464502, LOC123464503, LOC123464504, LOC123464505, LOC123464506, LOC646903, LPP, LPP-AS1, LPP-AS2, LRCH3, LRRC15, LRRC31, LRRC34, LRRIQ4, LSG1, LXN, MAGEF1, MAP3K13, MAP6D1, MASP1, MB21D2, MBNL1
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
5.
GRCh37:
Chr3:148415660
GRCh38:
Chr3:148697873
AGTR1Renal tubular dysgenesisUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
6.
GRCh37:
Chr3:148415670
GRCh38:
Chr3:148697883
AGTR1Renal tubular dysgenesisBenign
(Jan 13, 2018)
criteria provided, single submitter
7.
GRCh37:
Chr3:148415693
GRCh38:
Chr3:148697906
AGTR1Renal tubular dysgenesisUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
8.
GRCh37:
Chr3:148415715
GRCh38:
Chr3:148697928
AGTR1Renal tubular dysgenesisUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
9.
GRCh37:
Chr3:148415807
GRCh38:
Chr3:148698020
AGTR1Renal tubular dysgenesisLikely benign
(Jan 13, 2018)
criteria provided, single submitter
10.
GRCh37:
Chr3:148415819
GRCh38:
Chr3:148698032
AGTR1Renal tubular dysgenesisUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
11.
GRCh37:
Chr3:148415862
GRCh38:
Chr3:148698075
AGTR1Renal tubular dysgenesisBenign
(Jan 12, 2018)
criteria provided, single submitter
12.
GRCh37:
Chr3:148425747
GRCh38:
Chr3:148707960
AGTR1Renal tubular dysgenesisUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
13.
GRCh37:
Chr3:148425821
GRCh38:
Chr3:148708034
AGTR1Renal tubular dysgenesisUncertain significance
(Mar 30, 2018)
criteria provided, single submitter
14.
GRCh37:
Chr3:148447756
GRCh38:
Chr3:148729969
AGTR1not providedBenign
(Jun 18, 2021)
criteria provided, single submitter
15.
GRCh37:
Chr3:148447995
GRCh38:
Chr3:148730208
AGTR1not providedUncertain significance
(Mar 4, 2022)
criteria provided, single submitter
16.
GRCh37:
Chr3:148448006
GRCh38:
Chr3:148730219
AGTR1not providedUncertain significance
(Oct 26, 2022)
criteria provided, single submitter
17.
GRCh37:
Chr3:148457473
GRCh38:
Chr3:148739686
AGTR1not providedBenign
(Jun 18, 2021)
criteria provided, single submitter
18.
GRCh37:
Chr3:148457642
GRCh38:
Chr3:148739855
AGTR1not providedBenign
(Jun 18, 2021)
criteria provided, single submitter
19.
GRCh37:
Chr3:148457845
GRCh38:
Chr3:148740058
AGTR1not providedBenign
(Jun 18, 2021)
criteria provided, single submitter
20.
GRCh37:
Chr3:148457910
GRCh38:
Chr3:148740123
AGTR1not providedBenign
(Jun 18, 2021)
criteria provided, single submitter
21.
GRCh37:
Chr3:148458463
GRCh38:
Chr3:148740676
AGTR1not providedBenign
(Jun 18, 2021)
criteria provided, single submitter
22.
GRCh37:
Chr3:148458782
GRCh38:
Chr3:148740995
AGTR1not providedUncertain significance
(Aug 5, 2022)
criteria provided, single submitter
23.
GRCh37:
Chr3:148458807
GRCh38:
Chr3:148741020
AGTR1Renal tubular dysgenesis, not providedConflicting interpretations of pathogenicity
(Aug 30, 2022)
criteria provided, conflicting interpretations
24.
GRCh37:
Chr3:148458931-148458932
GRCh38:
Chr3:148741144-148741145
AGTR1I38fs, I73fsRenal tubular dysgenesisLikely pathogenic
(Mar 5, 2021)
criteria provided, single submitter
25.
GRCh37:
Chr3:148458935
GRCh38:
Chr3:148741148
AGTR1I73T, I38TRenal tubular dysgenesis, Essential hypertension, genetic, Renal tubular dysgenesis of genetic origin
Uncertain significance
(Jul 26, 2021)
criteria provided, multiple submitters, no conflicts
26.
GRCh37:
Chr3:148458960
GRCh38:
Chr3:148741173
AGTR1N46Knot providedUncertain significance
(Aug 14, 2021)
criteria provided, single submitter
27.
GRCh37:
Chr3:148458974
GRCh38:
Chr3:148741187
AGTR1I86T, I51TRenal tubular dysgenesisUncertain significance
(Jan 12, 2018)
criteria provided, single submitter
28.
GRCh37:
Chr3:148458977
GRCh38:
Chr3:148741190
AGTR1V52Gnot providedUncertain significance
(Oct 17, 2022)
criteria provided, single submitter
29.
GRCh37:
Chr3:148458992
GRCh38:
Chr3:148741205
AGTR1M92T, M57TRenal tubular dysgenesisUncertain significance
(Jan 12, 2018)
criteria provided, single submitter
30.
GRCh37:
Chr3:148458999
GRCh38:
Chr3:148741212
AGTR1not providedLikely benign
(Feb 20, 2022)
criteria provided, single submitter
31.
GRCh37:
Chr3:148459015
GRCh38:
Chr3:148741228
AGTR1V65I, V100IRenal tubular dysgenesis, not providedLikely benign
(Oct 13, 2022)
criteria provided, multiple submitters, no conflicts
32.
GRCh37:
Chr3:148459024
GRCh38:
Chr3:148741237
AGTR1not providedLikely benign
(Aug 10, 2022)
criteria provided, single submitter
33.
GRCh37:
Chr3:148459030
GRCh38:
Chr3:148741243
AGTR1L70IInborn genetic diseases, not providedUncertain significance
(Jul 19, 2022)
criteria provided, multiple submitters, no conflicts
34.
GRCh37:
Chr3:148459043
GRCh38:
Chr3:148741256
AGTR1D74ARenal tubular dysgenesis of genetic originUncertain significance
(Nov 2, 2021)
criteria provided, single submitter
35.
GRCh37:
Chr3:148459051
GRCh38:
Chr3:148741264
AGTR1L78fsEssential hypertension, geneticPathogenic
(May 4, 2022)
criteria provided, single submitter
36.
GRCh37:
Chr3:148459073
GRCh38:
Chr3:148741286
AGTR1W84*, W119*Renal tubular dysgenesisUncertain significance
(Apr 27, 2017)
criteria provided, single submitter
37.
GRCh37:
Chr3:148459075
GRCh38:
Chr3:148741288
AGTR1A85Snot providedUncertain significance
(Jun 4, 2022)
criteria provided, single submitter
38.
GRCh37:
Chr3:148459102-148459109
GRCh38:
Chr3:148741315-148741322
AGTR1P95fsnot providedUncertain significance
(Sep 16, 2018)
no assertion criteria provided
39.
GRCh37:
Chr3:148459120
GRCh38:
Chr3:148741333
AGTR1not providedLikely benign
(Dec 2, 2021)
criteria provided, single submitter
40.
GRCh37:
Chr3:148459129
GRCh38:
Chr3:148741342
AGTR1I103Fnot providedUncertain significance
(Jul 26, 2022)
criteria provided, single submitter
41.
GRCh37:
Chr3:148459130
GRCh38:
Chr3:148741343
AGTR1I138T, I103TRenal tubular dysgenesis, not providedUncertain significance
(Oct 17, 2022)
criteria provided, multiple submitters, no conflicts
42.
GRCh37:
Chr3:148459162
GRCh38:
Chr3:148741375
AGTR1A149T, A114TRenal tubular dysgenesis, not provided, Renal tubular dysgenesis of genetic origin,
Essential hypertension, genetic
Uncertain significance
(Apr 9, 2022)
criteria provided, multiple submitters, no conflicts
43.
GRCh37:
Chr3:148459198
GRCh38:
Chr3:148741411
AGTR1R126*Renal tubular dysgenesisPathogenic
(Feb 1, 2012)
no assertion criteria provided
44.
GRCh37:
Chr3:148459199
GRCh38:
Chr3:148741412
AGTR1R126Qnot providedUncertain significance
(Dec 13, 2021)
criteria provided, single submitter
45.
GRCh37:
Chr3:148459199
GRCh38:
Chr3:148741412
AGTR1R126PRenal dysplasia, cystic, susceptibility to, AnhydramniosUncertain significance
(Dec 15, 2021)
criteria provided, single submitter
46.
GRCh37:
Chr3:148459222
GRCh38:
Chr3:148741435
AGTR1M134Vnot providedUncertain significance
(Aug 10, 2022)
criteria provided, single submitter
47.
GRCh37:
Chr3:148459230
GRCh38:
Chr3:148741443
AGTR1not providedLikely benign
(Dec 31, 2019)
criteria provided, single submitter
48.
GRCh37:
Chr3:148459237
GRCh38:
Chr3:148741450
AGTR1R139*Renal tubular dysgenesis of genetic originPathogenic
(Jan 2, 2023)
criteria provided, single submitter
49.
GRCh37:
Chr3:148459241
GRCh38:
Chr3:148741454
AGTR1R140HEssential hypertension, geneticPathogenic
(May 4, 2022)
criteria provided, single submitter
50.
GRCh37:
Chr3:148459249
GRCh38:
Chr3:148741462
AGTR1L178I, L143IRenal tubular dysgenesisUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
51.
GRCh37:
Chr3:148459250
GRCh38:
Chr3:148741463
AGTR1L143Rnot providedUncertain significance
(Oct 27, 2021)
criteria provided, single submitter
52.
GRCh37:
Chr3:148459309
GRCh38:
Chr3:148741522
AGTR1A163T, A198Tnot provided, Renal tubular dysgenesisLikely benign
(Aug 9, 2022)
criteria provided, multiple submitters, no conflicts
53.
GRCh37:
Chr3:148459322
GRCh38:
Chr3:148741535
AGTR1R202Q, R167QRenal tubular dysgenesis, not providedConflicting interpretations of pathogenicity
(Jun 17, 2021)
criteria provided, conflicting interpretations
54.
GRCh37:
Chr3:148459329
GRCh38:
Chr3:148741542
AGTR1not providedLikely benign
(Jun 19, 2022)
criteria provided, single submitter
55.
GRCh37:
Chr3:148459395
GRCh38:
Chr3:148741608
AGTR1Renal tubular dysgenesis, not specified, not provided
Benign
(Nov 1, 2022)
criteria provided, multiple submitters, no conflicts
56.
GRCh37:
Chr3:148459398
GRCh38:
Chr3:148741611
AGTR1not providedLikely benign
(Sep 27, 2022)
criteria provided, single submitter
57.
GRCh37:
Chr3:148459406
GRCh38:
Chr3:148741619
AGTR1L195Pnot providedUncertain significance
(Feb 28, 2022)
criteria provided, single submitter
58.
GRCh37:
Chr3:148459416-148459417
GRCh38:
Chr3:148741629-148741630
AGTR1N200fsEssential hypertension, Renal tubular dysgenesis, not provided
Conflicting interpretations of pathogenicity
(Oct 14, 2021)
criteria provided, conflicting interpretations
59.
GRCh37:
Chr3:148459431
GRCh38:
Chr3:148741644
AGTR1Renal tubular dysgenesisUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
60.
GRCh37:
Chr3:148459515-148459519
GRCh38:
Chr3:148741728-148741732
AGTR1P233fsnot providedLikely pathogenic
(Jun 17, 2021)
criteria provided, single submitter
61.
GRCh37:
Chr3:148459519
GRCh38:
Chr3:148741732
AGTR1P233T, P268TRenal tubular dysgenesis, Essential hypertension, genetic, Renal tubular dysgenesis of genetic origin
Uncertain significance
(Dec 10, 2021)
criteria provided, multiple submitters, no conflicts
62.
GRCh37:
Chr3:148459529
GRCh38:
Chr3:148741742
AGTR1D236VInborn genetic diseasesUncertain significance
(Aug 17, 2022)
criteria provided, single submitter
63.
GRCh37:
Chr3:148459551
GRCh38:
Chr3:148741764
AGTR1M243Inot providedUncertain significance
(Jun 10, 2022)
criteria provided, single submitter
64.
GRCh37:
Chr3:148459552
GRCh38:
Chr3:148741765
AGTR1A279S, A244SRenal tubular dysgenesis, not providedBenign
(Oct 31, 2022)
criteria provided, multiple submitters, no conflicts
65.
GRCh37:
Chr3:148459554
GRCh38:
Chr3:148741767
AGTR1not providedLikely benign
(May 21, 2022)
criteria provided, single submitter
66.
GRCh37:
Chr3:148459555
GRCh38:
Chr3:148741768
AGTR1I245Vnot providedUncertain significance
(Aug 22, 2022)
criteria provided, single submitter
67.
GRCh37:
Chr3:148459558
GRCh38:
Chr3:148741771
AGTR1V246Lnot providedUncertain significance
(Aug 30, 2021)
criteria provided, single submitter
68.
GRCh37:
Chr3:148459583
GRCh38:
Chr3:148741796
AGTR1I254NRenal tubular dysgenesis of genetic originUncertain significance
(Nov 2, 2021)
criteria provided, single submitter
69.
GRCh37:
Chr3:148459586
GRCh38:
Chr3:148741799
AGTR1P290L, P255LRenal tubular dysgenesisUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
70.
GRCh37:
Chr3:148459619
GRCh38:
Chr3:148741832
AGTR1I266TInborn genetic diseasesUncertain significance
(Apr 28, 2022)
criteria provided, single submitter
71.
GRCh37:
Chr3:148459622
GRCh38:
Chr3:148741835
AGTR1Q267RInborn genetic diseasesUncertain significance
(Jun 9, 2022)
criteria provided, single submitter
72.
GRCh37:
Chr3:148459627
GRCh38:
Chr3:148741840
AGTR1G269Snot providedUncertain significance
(Jul 30, 2022)
criteria provided, single submitter
73.
GRCh37:
Chr3:148459637
GRCh38:
Chr3:148741850
AGTR1R307P, R272PRenal tubular dysgenesisUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
74.
GRCh37:
Chr3:148459667
GRCh38:
Chr3:148741880
AGTR1T282MRenal tubular dysgenesisPathogenic
(Sep 1, 2005)
no assertion criteria provided
75.
GRCh37:
Chr3:148459698
GRCh38:
Chr3:148741911
AGTR1F293fsRenal tubular dysgenesisLikely pathogenic
(Dec 15, 2021)
criteria provided, single submitter
76.
GRCh37:
Chr3:148459715
GRCh38:
Chr3:148741928
AGTR1N333S, N298SRenal tubular dysgenesis, not provided, Renal tubular dysgenesis of genetic origin,
Essential hypertension, genetic
Uncertain significance
(Jul 7, 2022)
criteria provided, multiple submitters, no conflicts
77.
GRCh37:
Chr3:148459747
GRCh38:
Chr3:148741960
AGTR1F309Lnot provided, Renal tubular dysgenesis of genetic origin, Essential hypertension, genetic
Uncertain significance
(Aug 22, 2022)
criteria provided, multiple submitters, no conflicts
78.
GRCh37:
Chr3:148459763
GRCh38:
Chr3:148741976
AGTR1L314Rnot providedUncertain significance
(Jul 25, 2018)
criteria provided, single submitter
79.
GRCh37:
Chr3:148459764
GRCh38:
Chr3:148741977
AGTR1Renal tubular dysgenesis, not providedConflicting interpretations of pathogenicity
(Dec 9, 2021)
criteria provided, conflicting interpretations
80.
GRCh37:
Chr3:148459796
GRCh38:
Chr3:148742009
AGTR1K325Rnot providedUncertain significance
(Jan 21, 2022)
criteria provided, single submitter
81.
GRCh37:
Chr3:148459815
GRCh38:
Chr3:148742028
AGTR1not providedLikely benign
(Oct 17, 2022)
criteria provided, single submitter
82.
GRCh37:
Chr3:148459830
GRCh38:
Chr3:148742043
AGTR1Renal tubular dysgenesis, not providedConflicting interpretations of pathogenicity
(Sep 6, 2022)
criteria provided, conflicting interpretations
83.
GRCh37:
Chr3:148459839
GRCh38:
Chr3:148742052
AGTR1Essential hypertension, genetic, Renal tubular dysgenesis of genetic origin, not provided
Likely benign
(Jul 4, 2022)
criteria provided, multiple submitters, no conflicts
84.
GRCh37:
Chr3:148459841
GRCh38:
Chr3:148742054
AGTR1R340Hnot providedUncertain significance
(Dec 20, 2021)
criteria provided, single submitter
85.
GRCh37:
Chr3:148459868
GRCh38:
Chr3:148742081
AGTR1T349IInborn genetic diseasesUncertain significance
(Dec 15, 2022)
criteria provided, single submitter
86.
GRCh37:
Chr3:148459876
GRCh38:
Chr3:148742089
AGTR1P352Snot providedUncertain significance
(Aug 5, 2022)
criteria provided, single submitter
87.
GRCh37:
Chr3:148459881
GRCh38:
Chr3:148742094
AGTR1not providedLikely benign
(Jun 5, 2018)
criteria provided, single submitter
88.
GRCh37:
Chr3:148459884
GRCh38:
Chr3:148742097
AGTR1Renal tubular dysgenesis, not specified, not provided
Benign
(Oct 21, 2022)
criteria provided, multiple submitters, no conflicts
89.
GRCh37:
Chr3:148459888
GRCh38:
Chr3:148742101
AGTR1F356Vnot providedUncertain significance
(May 11, 2022)
criteria provided, single submitter
90.
GRCh37:
Chr3:148459902
GRCh38:
Chr3:148742115
AGTR1not provided, Essential hypertension, genetic, Renal tubular dysgenesis of genetic origin
Uncertain significance
(Feb 24, 2022)
criteria provided, multiple submitters, no conflicts
91.
GRCh37:
Chr3:148459942
GRCh38:
Chr3:148742155
AGTR1Renal tubular dysgenesisUncertain significance
(Apr 27, 2017)
criteria provided, single submitter
92.
GRCh37:
Chr3:148459950
GRCh38:
Chr3:148742163
AGTR1Renal tubular dysgenesisUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
93.
GRCh37:
Chr3:148459972
GRCh38:
Chr3:148742185
AGTR1Renal tubular dysgenesis, not providedBenign
(Jun 19, 2021)
criteria provided, multiple submitters, no conflicts
94.
GRCh37:
Chr3:148459988
GRCh38:
Chr3:148742201
AGTR1Renal tubular dysgenesis, not provided, Essential hypertension, genetic,
Renal tubular dysgenesis of genetic origin
Benign/Likely benign
(Aug 16, 2021)
criteria provided, multiple submitters, no conflicts
95.
GRCh37:
Chr3:148459995
GRCh38:
Chr3:148742208
AGTR1Renal tubular dysgenesisBenign
(Apr 27, 2017)
criteria provided, single submitter
96.
GRCh37:
Chr3:148460037
GRCh38:
Chr3:148742250
AGTR1Renal tubular dysgenesisBenign
(Jan 13, 2018)
criteria provided, single submitter
97.
GRCh37:
Chr3:148460080
GRCh38:
Chr3:148742293
AGTR1Renal tubular dysgenesisUncertain significance
(Jan 15, 2018)
criteria provided, single submitter
98.
GRCh37:
Chr3:148460131
GRCh38:
Chr3:148742344
AGTR1Renal tubular dysgenesisUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
99.
GRCh37:
Chr3:148460153
GRCh38:
Chr3:148742366
AGTR1Renal tubular dysgenesisUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
100.
GRCh37:
Chr3:148460219
GRCh38:
Chr3:148742432
AGTR1Renal tubular dysgenesisBenign
(Jan 13, 2018)
criteria provided, single submitter
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