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Items: 1 to 100 of 1087

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)		Review status
1.
GRCh37:
Chr3:93519464-145413168
GRCh38:
Chr3:93800620-145695381
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, LOC126806743, LOC126806744, LOC126806745, LOC126806746, LOC126806747, LOC126806748, LOC126806749, LOC126806750, LOC126806751, LOC126806752, LOC126806753, LOC126806754, LOC126806755, LOC126806756, LOC126806757, LOC126806758, LOC126806759, LOC126806760, LOC126806761, LOC126806762, LOC126806763, LOC126806764, LOC126806765, LOC126806766, LOC126806767, LOC126806768, LOC126806769, LOC126806770, LOC126806771, LOC126806772, LOC126806773, LOC126806774, LOC126806775, LOC126806776, LOC126806777, LOC126806778, LOC126806779, LOC126806780, LOC126806781, LOC126806782, LOC126806783, LOC126806784, LOC126806785, LOC126806786, LOC126806787, LOC126806788, LOC126806789, LOC126806790, LOC126806791, LOC126806792, LOC126806793, LOC126806794, LOC126806795, LOC126806796, LOC126806797, LOC126806798, LOC126806799, LOC126806800, LOC126806801, LOC126806802, LOC126806803, LOC126806804, LOC126806805, LOC126806806, LOC126806807, LOC126806808, LOC126806809, LOC126806810, LOC126806811, LOC126806812, LOC126806813, LOC126806814, LOC126806815, LOC126806816, LOC126806817, LOC126806818, LOC126806819, LOC126806820, LOC126806821, LOC126806822, LOC126806823, LOC126806824, LOC126806825, LOC126806826, LOC126806827, LOC126806828, LOC126806829, LOC126806830, LOC126806831, LOC126806832, LOC126806833, LOC126806834, LOC126806835, LOC127898559, LOC90246, LRRC58, LRRC58-DT, LSAMP, LSAMP-AS1, MBD4, MCM2, MGLL, MIR12124, MIR198, MIR3921, MIR4445, MIR4446, MIR4447, MIR4788, MIR4796, MIR5002, MIR5092, MIR544B, MIR548AB, MIR548I1, MIR567, MIR568, MIR5682, MIR5704, MIR6083, MIR6529, MIR6825, MIR6826, MIR6827, MIR7110, MIR7976, MIR8060, MIR8076, MIR9900, MIX23, MORC1, MORC1-AS1, MRAS, MRPL3, MRPS22, MSL2, MUC13, MYH15, MYLK, MYLK-AS1, MYLK-AS2, NAA50, NCK1, NCK1-DT, NDUFB4, NECTIN3, NECTIN3-AS1, NEK11, NEPRO, NFKBIZ, NIT2, NME9, NMNAT3, NPHP3, NPHP3-ACAD11, NPHP3-AS1, NR1I2, NSUN3, NUDT16, NUDT16-DT, NXPE3, OR5AC2, OR5H1, OR5H14, OR5H15, OR5H2, OR5H6, OR5K1, OR5K2, OR5K3, OR5K4, OSBPL11, PAQR9, PAQR9-AS1, PARP14, PARP15, PARP9, PCCB, PCNP, PCOLCE2, PDIA5, PHLDB2, PIK3CB, PIK3R4, PISRT1, PLA1A, PLCXD2, PLCXD2-AS1, PLS1, PLXNA1, PLXND1, PODXL2, POGLUT1, POLQ, POPDC2, PPP2R3A, PROS1, PRR20G, PRR23A, PRR23B, PRR23C, PRR23E, PXYLP1, QTRT2, RAB43, RAB6B, RAB7A, RABL3, RASA2, RBP1, RBP2, RDUR, RER, RETNLB, RHO, RIOX2, RNF7, ROPN1, ROPN1B, RPL24, RPN1, RUVBL1, RUVBL1-AS1, RYK, SEC22A, SEC61A1, SEMA5B, SENP7, SIDT1, SLC12A8, SLC15A2, SLC25A36, SLC35A5, SLC35G2, SLC41A3, SLC49A4, SLC9A9, SLC9A9-AS1, SLC9C1, SLCO2A1, SNORA58, SNORA7B, SNORD155, SNX4, SOX14, SPICE1, SPSB4, SRPRB, ST3GAL6, ST3GAL6-AS1, STAG1, STX19, STXBP5L, TAGLN3, TBC1D23, TBILA, TEX55, TF, TFDP2, TFG, TIGIT, TIMMDC1, TMCC1, TMCC1-DT, TMEM108, TMEM108-AS1, TMEM39A, TMEM45A, TMPRSS7, TOMM70, TOPBP1, TPRA1, TRAT1, TRC-GCA6-1, TRC-GCA9-1, TRH, TRIM42, TRMT10C, TRPC1, TUSC7, TXNRD3, TXNRD3NB, U2SURP, UBA5, UMPS, UPK1B, UROC1, USF3, WDR5B, WDR5B-DT, XRN1, ZBED2, ZBTB11, ZBTB11-AS1, ZBTB20, ZBTB20-AS1, ZBTB20-AS3, ZBTB20-AS4, ZBTB20-AS5, ZBTB38, ZDHHC23, ZNF148, ZNF80, ZPLD1, ZXDC, A4GNT, ABHD10, ABI3BP, ABTB1, ACAD11, ACAD9, ACAD9-DT, ACKR4, ACP3, ADCY5, ADGRG7, ADPRH, ALCAM, ALDH1L1, ALDH1L1-AS1, ALDH1L1-AS2, ALG1L2, AMOTL2, ANAPC13, ARGFX, ARHGAP31, ARHGAP31-AS1, ARL13B, ARL6, ARMC8, ASTE1, ATG3, ATP1B3, ATP2C1, ATP6V1A, ATR, B4GALT4, B4GALT4-AS1, BBX, BFSP2, BFSP2-AS1, BOC, BPESC1, BTLA, C3orf22, C3orf36, C3orf52, C3orf85, CASR, CBLB, CCDC14, CCDC191, CCDC54, CCDC54-AS1, CCDC80, CD200, CD200R1, CD200R1L, CD200R1L-AS1, CD47, CD80, CD86, CD96, CDV3, CEP63, CEP70, CEP97, CFAP100, CFAP100-DT, CFAP44, CFAP44-AS1, CFAP91, CFAP92, CHCHD6, CHST13, CHST2, CIP2A, CLDN18, CLDND1, CLSTN2, CLSTN2-AS1, CMSS1, CNBP, COL6A5, COL6A6, COL8A1, COPB2, COPB2-DT, COPG1, COX17, CPNE4, CPOX, CRYBG3, CSTA, DBR1, DCBLD2, DHFR2, DIPK2A, DNAJB8, DNAJB8-AS1, DNAJC13, DPPA2, DPPA4, DRD3, DTX3L, DUBR, DZIP1L, DZIP3, EAF2, EEFSEC, EFCAB12, EFCC1, EPHA6, EPHB1, ESYT3, FAIM, FAM162A, FBXO40, FILIP1L, FOXL2, FOXL2NB, FSTL1, GABRR3, GAP43, GATA2, GATA2-AS1, GCSAM, GK5, GOLGB1, GP9, GPR15, GPR156, GRAMD1C, GRK7, GSK3B, GTF2E1, GTPBP8, GUCA1C, H1-10, H1-10-AS1, H1-8, HACD2, HCLS1, HEG1, HGD, HHLA2, HMCES, HP09053, HSPBAP1, IFT122, IFT57, IGSF11, IGSF11-AS1, IL20RB, IL20RB-AS1, ILDR1, IMPG2, IQCB1, ISY1, ISY1-RAB43, ITGB5, KALRN, KBTBD12, KLF15, KPNA1, KY, LINC00488, LINC00635, LINC00636, LINC00879, LINC00882, LINC00901, LINC00903, LINC01205, LINC01210, LINC01215, LINC01279, LINC01391, LINC01471, LINC01565, LINC01990, LINC02000, LINC02004, LINC02014, LINC02016, LINC02021, LINC02024, LINC02035, LINC02042, LINC02044, LINC02049, LINC02614, LINC02618, LINC03051, LNP1, LOC100289361, LOC100507389, LOC101926968, LOC101929411, LOC105374042, LOC105374060, LOC105374312, LOC108004531, LOC108004532, LOC108192211, LOC108281117, LOC108644431, LOC110120612, LOC110120613, LOC110120614, LOC110120631, LOC110120732, LOC110120785, LOC110121113, LOC110121116, LOC110121175, LOC110121187, LOC110121244, LOC111255649, LOC111365173, LOC111365202, LOC111556160, LOC111562374, LOC111828514, LOC112841610, LOC112841611, 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, LOC112935964, LOC112935965, LOC112935966, LOC115995515, LOC115995516, LOC115995517, LOC115995518, LOC115995519, LOC115995520, LOC115995521, LOC115995522, LOC115995523, LOC115995524, LOC115995525, LOC115995526, LOC117011629, LOC117038769, LOC117038770, LOC117038771, LOC117038772, LOC117038773, LOC117038774, LOC121009683, LOC121009684, LOC121009685, LOC121045485, LOC121045486, LOC121048709, LOC121048710, LOC121048711, LOC121048712, LOC121048713, LOC121048714, LOC121048715, LOC121048716, LOC121725150, LOC121725151, LOC121725152, LOC121725153, LOC121725154, LOC121725155, LOC123002313, LOC123002314, LOC123002315, LOC123002316, LOC123002317, LOC123002318, LOC123002319, LOC123002320, LOC123002321, LOC123002322, LOC123002323, LOC123002324, LOC123002325, LOC123002326, LOC123002327, LOC123002328, LOC123002329, LOC123002330, LOC123002331, LOC123038158, LOC123038159
See casesPathogenic
(Mar 18, 2014)		no assertion criteria provided
2.
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, 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, 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, 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, LINC03051, LIPH, LMLN, LMLN-AS1, LNCSRLR, LOC100131635, LOC100287290, LOC100289361, LOC100507389, LOC101926968, LOC101928105, LOC101928166, LOC101928882, LOC101929106, LOC101929130, LOC102724604, LOC105374042, LOC105374060, LOC105374194, LOC108004532, LOC108192211, LOC105374297, LOC105374312, LOC105374313, LOC106660625, LOC107133517, LOC107986163, LOC108004531, LOC108281117, LOC108281160, LOC108281177, LOC108281178, 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, LOC126806755, LOC126806756, LOC126806757, LOC126806758, LOC126806759, LOC126806760, LOC126806761, LOC126806762, LOC126806763, LOC126806764, LOC126806765, LOC126806766, LOC126806767, LOC126806768, LOC126806769, LOC126806770, LOC126806771, LOC126806772, LOC126806773, LOC126806774, LOC126806775, LOC126806776, LOC126806777, LOC126806778, LOC126806779, LOC126806780, LOC126806781, LOC126806782, LOC126806783, LOC126806784, LOC126806785, LOC126806786, LOC126806787, LOC126806788, LOC126806789, LOC126806790, LOC126806791, LOC126806792, LOC126806793, LOC126806794, LOC126806795, LOC126806796, LOC126806797, LOC126806798, LOC126806799, LOC126806800, LOC126806801, LOC126806802, LOC126806803, LOC126806804, LOC126806805, LOC126806806, LOC126806807, LOC126806808, LOC126806809, LOC126806810, LOC126806811, LOC126806812, LOC126806813, LOC126806814, LOC126806815, LOC126806816, LOC126806817, LOC126806818, LOC126806819, LOC126806820, LOC126806821, LOC126806822, LOC126806823, LOC126806824, LOC126806825, LOC126806826, LOC126806827, LOC126806828, LOC126806829, LOC126806830, LOC126806831, LOC126806832, LOC126806833, LOC126806834, LOC126806835, LOC126806836, LOC126806837, LOC126806838, LOC126806839, LOC126806840, LOC126806841, LOC126806842, LOC126806843, LOC126806844, LOC126806845, LOC126806846, LOC126806847, LOC126806848, LOC126806849, LOC126806850, LOC126806851, LOC126806852, LOC126806853, LOC126806854, LOC126806855, LOC126806856, LOC126806857, LOC126806858, LOC126806859, LOC126806860, LOC126806861, LOC126806862, LOC126806863, LOC126806864, LOC126806865, LOC126806866, LOC126806867, LOC126806868, LOC126806869, LOC126806870, LOC126806871, LOC126806872, LOC126806873, LOC126806874, LOC126806875, LOC126806876, LOC126806877, LOC126806878, LOC126806879, LOC126806880, LOC126806881, LOC126806882, LOC126806883, LOC126806884, LOC126806885, LOC126806886, LOC126806887, LOC126806888, LOC126806889, LOC126806890, LOC126806891, LOC126806892, LOC126806893, LOC126806894, LOC126806895, LOC126806896, LOC126806897, LOC126806898, LOC126806899, LOC126806900, LOC126806901, LOC126806902, LOC126806903, LOC126806904, LOC126806905, LOC126806906, LOC126806907, LOC126806908, LOC126806909, LOC126806910, LOC126806911, LOC126806912, LOC126806913, LOC126806914, LOC126806915, LOC126806916, LOC126806917, LOC126806918, LOC126806919, LOC126806920, LOC126806921, LOC126806922, LOC126806923, LOC126806924, LOC126806925, LOC126806926, LOC126806927, LOC126806928, LOC126806929, LOC126806930, LOC126806931, LOC126806932, LOC126806933, LOC126806934, LOC126806935, LOC126806936, LOC126806937, LOC126806938, LOC127898559, LOC128772257, LOC128772258, LOC128772259, LOC128772260, LOC128772261, 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, MIR6829, MIR7110, MIR570HG, MIR6083, MIR6529, MIR6825, MIR6826, MIR6827, MIR6828, MIR7976, MIR7977, MIR8076, MIR922, MIR944, MIR9900, MIX23, MLF1, MLF1-DT, MME, MORC1, MORC1-AS1, MRAS, MRPL3, MRPL47, MRPS22, MSL2, MUC13, MUC20, MUC4, MYH15, MYLK, MYLK-AS1, MYLK-AS2, MYNN, 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, PRR23E, 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, SNHG33, SNORA4, SNORA58, SNORA63, SNORA63B, SNORA63D, SNORA63E, SNORA7B, SNORA81, SNORD155, SNORD2, SNORD66, SNX4, SOX14, SOX2, SOX2-OT, 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, ZDHHC23, ZIC1, ZIC4, ZIC4-AS1, ZMAT3, ZNF148, ZNF639, ZNF80, ZXDC
See casesPathogenic
(Jan 5, 2011)		no assertion criteria provided
3.
GRCh37:
Chr3:125825622-140636931
GRCh38:
Chr3:126106779-140918089
A4GNT, ABTB1, ACAD11, ACAD9, ACAD9-DT, ACKR4, ACP3, ALDH1L1, ALDH1L1-AS1, ALDH1L1-AS2, ALG1L2, AMOTL2, ANAPC13, ARMC8, ASTE1, ATP2C1, BFSP2, BFSP2-AS1, BPESC1, C3orf22, C3orf36, CDV3, CEP63, CEP70, CFAP100, CFAP100-DT, CFAP92, CHCHD6, CHST13, CLDN18, CLSTN2, CLSTN2-AS1, CNBP, COL6A5, COL6A6, COPB2, COPB2-DT, COPG1, CPNE4, DBR1, DNAJB8, DNAJB8-AS1, DNAJC13, DZIP1L, EEFSEC, EFCAB12, EFCC1, EPHB1, ESYT3, FAIM, FOXL2, FOXL2NB, GATA2, GATA2-AS1, GP9, H1-10, H1-10-AS1, H1-8, HMCES, IFT122, IL20RB, IL20RB-AS1, ISY1, ISY1-RAB43, KBTBD12, KLF15, KY, LINC01210, LINC01391, LINC01471, LINC01565, LINC02000, LINC02004, LINC02014, LINC02016, LINC02021, LOC108192211, LOC108281117, LOC108644431, LOC110120612, LOC110120613, LOC110120614, LOC110120732, LOC110120785, LOC111365202, LOC111556160, LOC111828514, LOC112872296, LOC112872297, LOC112872298, LOC112872299, LOC112872300, LOC112872301, LOC112872302, LOC112872303, LOC112872304, LOC112903835, LOC112903836, LOC112903837, LOC112903838, LOC112903839, LOC112903840, LOC115995518, LOC115995519, LOC115995520, LOC115995521, LOC115995522, LOC115995523, LOC117011629, LOC117038769, LOC117038770, LOC117038771, LOC117038772, LOC117038773, LOC117038774, LOC121009685, LOC121045485, LOC121045486, LOC121048709, LOC121048710, LOC121048711, LOC121048712, LOC121048713, LOC121048714, LOC121725155, 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, LOC126806800, LOC126806801, LOC126806802, LOC126806803, LOC126806804, LOC126806805, LOC126806806, LOC126806807, LOC126806808, LOC126806809, LOC126806810, LOC126806811, LOC126806812, LOC126806813, LOC126806814, LOC126806815, LOC126806816, LOC126806817, LOC126806818, LOC126806819, LOC126806820, LOC126806821, LOC126806822, LOC126806823, LOC126806824, LOC126806825, LOC126806826, LOC126806827, LOC126806828, LOC90246, MBD4, MCM2, MGLL, MIR12124, MIR4788, MIR5704, MIR6825, MIR6826, MIR6827, MIR7976, MRAS, MRPL3, MRPS22, MSL2, NCK1, NCK1-DT, NEK11, NME9, NMNAT3, NPHP3, NPHP3-ACAD11, NPHP3-AS1, NUDT16, NUDT16-DT, PCCB, PIK3CB, PIK3R4, PISRT1, PLXNA1, PLXND1, PODXL2, PPP2R3A, PRR20G, PRR23A, PRR23B, PRR23C, PRR23E, RAB43, RAB6B, RAB7A, RBP1, RBP2, RER, RHO, RPN1, RUVBL1, RUVBL1-AS1, RYK, SEC61A1, SLC35G2, SLCO2A1, SNORA58, SNORA7B, SOX14, SRPRB, STAG1, TF, TMCC1, TMCC1-DT, TMEM108, TMEM108-AS1, TOPBP1, TPRA1, TRC-GCA6-1, TRC-GCA9-1, TRH, TRIM42, TXNRD3, TXNRD3NB, UBA5, UROC1, ZXDC
See casesUncertain significance
(Aug 19, 2013)		no assertion criteria provided
4.
GRCh37:
Chr3:127326788-133285505
GRCh38:
Chr3:127607945-133566661
ABTB1, ACAD11, ACAD9, ACAD9-DT, ACKR4, ACP3, ALG1L2, ASTE1, ATP2C1, BFSP2, BFSP2-AS1, CFAP92, CNBP, COL6A5, COL6A6, COPG1, CPNE4, DNAJB8, DNAJB8-AS1, DNAJC13, EEFSEC, EFCAB12, EFCC1, GATA2, GATA2-AS1, GP9, H1-10, H1-10-AS1, H1-8, HMCES, IFT122, ISY1, ISY1-RAB43, KBTBD12, LINC01565, LINC02014, LINC02021, LOC108192211, LOC108644431, LOC111556160, LOC112872298, LOC112872299, LOC112872300, LOC112872301, LOC112872302, LOC112872303, LOC112872304, LOC112903835, LOC112903836, LOC115995518, LOC115995519, LOC115995520, LOC115995521, LOC117011629, LOC117038769, LOC117038770, LOC117038771, LOC117038772, LOC117038773, LOC117038774, LOC121045485, LOC121045486, LOC121048709, LOC123038171, LOC123038172, LOC123038173, LOC123038174, LOC123038175, LOC123038176, LOC123038177, LOC123038178, LOC123038179, LOC123038180, LOC123038181, LOC123038182, LOC123038183, LOC123038184, LOC126806804, LOC126806805, LOC126806806, LOC126806807, LOC126806808, LOC126806809, LOC126806810, LOC126806811, LOC126806812, LOC126806813, LOC126806814, LOC126806815, LOC126806816, LOC90246, MBD4, MCM2, MGLL, MIR12124, MIR5704, MIR6826, MRPL3, NEK11, NPHP3, NPHP3-ACAD11, NPHP3-AS1, NUDT16, NUDT16-DT, PIK3R4, PLXND1, PODXL2, RAB43, RAB7A, RER, RHO, RPN1, RUVBL1, RUVBL1-AS1, SEC61A1, SNORA58, SNORA7B, TMCC1, TMCC1-DT, TMEM108, TMEM108-AS1, TRC-GCA6-1, TRC-GCA9-1, TRH, UBA5
See casesLikely pathogenic
(Dec 10, 2012)		no assertion criteria provided
5.
GRCh37:
Chr3:129536086-141143997
GRCh38:
Chr3:129817243-141425155
A4GNT, ACAD11, ACKR4, ACP3, ALG1L2, AMOTL2, ANAPC13, ARMC8, ASTE1, ATP2C1, BFSP2, BFSP2-AS1, BPESC1, C3orf36, CDV3, CEP63, CEP70, CLDN18, CLSTN2, CLSTN2-AS1, COL6A5, COL6A6, COPB2, COPB2-DT, CPNE4, DBR1, DNAJC13, DZIP1L, EPHB1, ESYT3, FAIM, FOXL2, FOXL2NB, IL20RB, IL20RB-AS1, KY, LINC01210, LINC01391, LINC02000, LINC02004, LINC02014, LINC02021, LOC108281117, LOC110120612, LOC110120613, LOC110120614, LOC110120732, LOC110120785, LOC111365202, LOC112903835, LOC112903836, LOC112903837, LOC112903838, LOC112903839, LOC112903840, LOC115995522, LOC115995523, LOC121048710, LOC121048711, LOC121048712, LOC121048713, LOC121048714, LOC121725155, LOC123038182, LOC123038183, LOC123038184, LOC123038185, LOC123038186, LOC123038187, LOC123038188, LOC123038189, LOC123038190, LOC123038191, LOC123038192, LOC123038193, LOC126806812, LOC126806813, LOC126806814, LOC126806815, LOC126806816, LOC126806817, LOC126806818, LOC126806819, LOC126806820, LOC126806821, LOC126806822, LOC126806823, LOC126806824, LOC126806825, LOC126806826, LOC126806827, LOC126806828, LOC126806829, MIR4788, MIR5704, MIR6827, MRAS, MRPL3, MRPS22, MSL2, NCK1, NCK1-DT, NEK11, NME9, NMNAT3, NPHP3, NPHP3-ACAD11, NPHP3-AS1, NUDT16, NUDT16-DT, PCCB, PIK3CB, PIK3R4, PISRT1, PPP2R3A, PRR23A, PRR23B, PRR23C, PXYLP1, RAB6B, RBP1, RBP2, RYK, SLC25A36, SLC35G2, SLCO2A1, SNORA58, SOX14, SPSB4, SRPRB, STAG1, TF, TMCC1, TMCC1-DT, TMEM108, TMEM108-AS1, TOPBP1, TRC-GCA6-1, TRC-GCA9-1, TRH, TRIM42, UBA5, ZBTB38
See casesPathogenic
(Apr 30, 2011)		no assertion criteria provided
6.
GRCh37:
Chr3:129536086-143100466
GRCh38:
Chr3:129817243-143381624
A4GNT, ACAD11, ACKR4, ACP3, ALG1L2, AMOTL2, ANAPC13, ARMC8, ASTE1, ATP1B3, ATP2C1, ATR, BFSP2, BFSP2-AS1, BPESC1, C3orf36, CDV3, CEP63, CEP70, CHST2, CLDN18, CLSTN2, CLSTN2-AS1, COL6A5, COL6A6, COPB2, COPB2-DT, CPNE4, DBR1, DNAJC13, DZIP1L, EPHB1, ESYT3, FAIM, FOXL2, FOXL2NB, GK5, GRK7, IL20RB, IL20RB-AS1, KY, LINC01210, LINC01391, LINC02000, LINC02004, LINC02014, LINC02021, LINC02618, LOC100289361, LOC100507389, LOC108281117, LOC110120612, LOC110120613, LOC110120614, LOC110120732, LOC110120785, LOC110121244, LOC111365202, LOC112903835, LOC112903836, LOC112903837, LOC112903838, LOC112903839, LOC112903840, LOC112903842, LOC115995522, LOC115995523, LOC115995524, LOC115995525, LOC115995526, LOC121048710, LOC121048711, LOC121048712, LOC121048713, LOC121048714, LOC121048715, LOC121048716, LOC121725155, LOC123038182, LOC123038183, LOC123038184, LOC123038185, LOC123038186, LOC123038187, LOC123038188, LOC123038189, LOC123038190, LOC123038191, LOC123038192, LOC123038193, LOC123038194, LOC123038195, LOC126806812, LOC126806813, LOC126806814, LOC126806815, LOC126806816, LOC126806817, LOC126806818, LOC126806819, LOC126806820, LOC126806821, LOC126806822, LOC126806823, LOC126806824, LOC126806825, LOC126806826, LOC126806827, LOC126806828, LOC126806829, LOC126806830, LOC126806831, MIR4788, MIR5704, MIR6827, MRAS, MRPL3, MRPS22, MSL2, NCK1, NCK1-DT, NEK11, NME9, NMNAT3, NPHP3, NPHP3-ACAD11, NPHP3-AS1, NUDT16, NUDT16-DT, PAQR9, PAQR9-AS1, PCCB, PCOLCE2, PIK3CB, PIK3R4, PISRT1, PLS1, PPP2R3A, PRR23A, PRR23B, PRR23C, PXYLP1, RAB6B, RASA2, RBP1, RBP2, RNF7, RYK, SLC25A36, SLC35G2, SLC9A9, SLC9A9-AS1, SLCO2A1, SNORA58, SOX14, SPSB4, SRPRB, STAG1, TF, TFDP2, TMCC1, TMCC1-DT, TMEM108, TMEM108-AS1, TOPBP1, TRC-GCA6-1, TRC-GCA9-1, TRH, TRIM42, TRPC1, U2SURP, UBA5, XRN1, ZBTB38
See casesPathogenic
(Dec 22, 2010)		no assertion criteria provided
7.
GRCh37:
Chr3:130120109-138723861
GRCh38:
Chr3:130401265-139005019
A4GNT, ACAD11, ACKR4, ACP3, AMOTL2, ANAPC13, ARMC8, ASTE1, ATP2C1, BFSP2, BFSP2-AS1, C3orf36, CDV3, CEP63, CEP70, CLDN18, COL6A5, COL6A6, CPNE4, DBR1, DNAJC13, DZIP1L, EPHB1, ESYT3, FAIM, FOXL2, FOXL2NB, IL20RB, IL20RB-AS1, KY, LINC01210, LINC01391, LINC02000, LINC02004, LOC108281117, LOC110120612, LOC110120613, LOC110120614, LOC110120732, LOC110120785, LOC111365202, LOC112903835, LOC112903836, LOC112903837, LOC112903838, LOC115995522, LOC115995523, LOC121048710, LOC121048711, LOC121048712, LOC121048713, LOC121725155, LOC123038182, LOC123038183, LOC123038184, LOC123038185, LOC123038186, LOC123038187, LOC123038188, LOC123038189, LOC123038190, LOC123038191, LOC123038192, LOC123038193, LOC126806812, LOC126806813, LOC126806814, LOC126806815, LOC126806816, LOC126806817, LOC126806818, LOC126806819, LOC126806820, LOC126806821, LOC126806822, MIR4788, MIR5704, MIR6827, MRAS, MRPL3, MSL2, NCK1, NCK1-DT, NEK11, NME9, NPHP3, NPHP3-ACAD11, NPHP3-AS1, NUDT16, NUDT16-DT, PCCB, PIK3CB, PIK3R4, PPP2R3A, PRR23A, RAB6B, RYK, SLC35G2, SLCO2A1, SNORA58, SOX14, SRPRB, STAG1, TF, TMEM108, TMEM108-AS1, TOPBP1, TRC-GCA6-1, TRC-GCA9-1, UBA5
See casesPathogenic
(May 7, 2012)		no assertion criteria provided
8.
GRCh37:
Chr3:132358364-132691470
GRCh38:
Chr3:132639520-132972626
ACAD11, NPHP3, NPHP3-ACAD11, NPHP3-AS1, UBA5See casesUncertain significance
(Aug 12, 2011)		criteria provided, single submitter
9.
GRCh37:
Chr3:132380878-132982343
GRCh38:
Chr3:132662034-133263499
LOC112903835, LOC112903836, NPHP3, NPHP3-ACAD11, NPHP3-AS1, TMEM108, TMEM108-AS1, UBA5See casesUncertain significance
(Aug 12, 2011)		criteria provided, single submitter
10.
GRCh37:
Chr3:132399541
GRCh38:
Chr3:132680697
NPHP3, NPHP3-ACAD11Nephronophthisis 3, Renal-hepatic-pancreatic dysplasia 1, NPHP3-related Meckel-like syndrome
Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
11.
GRCh37:
Chr3:132399566
GRCh38:
Chr3:132680722
NPHP3-ACAD11, NPHP3Renal-hepatic-pancreatic dysplasia 1, NPHP3-related Meckel-like syndrome, Nephronophthisis 3
Uncertain significance
(Jan 12, 2018)		criteria provided, single submitter
12.
GRCh37:
Chr3:132399570
GRCh38:
Chr3:132680726
NPHP3-ACAD11, NPHP3Renal-hepatic-pancreatic dysplasia 1, NPHP3-related Meckel-like syndrome, Nephronophthisis 3
Uncertain significance
(Jan 12, 2018)		criteria provided, single submitter
13.
GRCh37:
Chr3:132399578
GRCh38:
Chr3:132680734
NPHP3-ACAD11, NPHP3NPHP3-related Meckel-like syndrome, Nephronophthisis 3, Renal-hepatic-pancreatic dysplasia 1
Conflicting interpretations of pathogenicity
(Jan 12, 2018)		criteria provided, conflicting interpretations
14.
GRCh37:
Chr3:132399633
GRCh38:
Chr3:132680789
NPHP3, NPHP3-ACAD11NPHP3-related Meckel-like syndrome, Nephronophthisis 3, Renal-hepatic-pancreatic dysplasia 1
Uncertain significance
(Jan 12, 2018)		criteria provided, single submitter
15.
GRCh37:
Chr3:132399656
GRCh38:
Chr3:132680812
NPHP3-ACAD11, NPHP3NPHP3-related Meckel-like syndrome, Nephronophthisis 3, Renal-hepatic-pancreatic dysplasia 1
Uncertain significance
(Jan 12, 2018)		criteria provided, single submitter
16.
GRCh37:
Chr3:132399660
GRCh38:
Chr3:132680816
NPHP3, NPHP3-ACAD11Renal-hepatic-pancreatic dysplasia 1, Nephronophthisis 3, NPHP3-related Meckel-like syndrome
Uncertain significance
(Jan 15, 2018)		criteria provided, single submitter
17.
GRCh37:
Chr3:132399676
GRCh38:
Chr3:132680832
NPHP3, NPHP3-ACAD11NPHP3-related Meckel-like syndrome, Nephronophthisis 3, Renal-hepatic-pancreatic dysplasia 1
Uncertain significance
(Jan 12, 2018)		criteria provided, single submitter
18.
GRCh37:
Chr3:132399734
GRCh38:
Chr3:132680890
NPHP3, NPHP3-ACAD11NPHP3-related Meckel-like syndrome, Nephronophthisis 3, Renal-hepatic-pancreatic dysplasia 1
Conflicting interpretations of pathogenicity
(Jan 13, 2018)		criteria provided, conflicting interpretations
19.
GRCh37:
Chr3:132399828
GRCh38:
Chr3:132680984
NPHP3-ACAD11, NPHP3Renal-hepatic-pancreatic dysplasia 1, NPHP3-related Meckel-like syndrome, Nephronophthisis 3
Conflicting interpretations of pathogenicity
(Jan 13, 2018)		criteria provided, conflicting interpretations
20.
GRCh37:
Chr3:132399902
GRCh38:
Chr3:132681058
NPHP3-ACAD11, NPHP3Renal-hepatic-pancreatic dysplasia 1, NPHP3-related Meckel-like syndrome, Nephronophthisis 3
Uncertain significance
(Jan 12, 2018)		criteria provided, single submitter
21.
GRCh37:
Chr3:132399939
GRCh38:
Chr3:132681095
NPHP3, NPHP3-ACAD11not provided, Nephronophthisis 3, NPHP3-related Meckel-like syndrome,
Renal-hepatic-pancreatic dysplasia 1		Conflicting interpretations of pathogenicity
(May 25, 2021)		criteria provided, conflicting interpretations
22.
GRCh37:
Chr3:132399969
GRCh38:
Chr3:132681125
NPHP3-ACAD11, NPHP3not provided, Nephronophthisis 3, Renal-hepatic-pancreatic dysplasia 1,
NPHP3-related Meckel-like syndrome		Benign/Likely benign
(May 26, 2021)		criteria provided, multiple submitters, no conflicts
23.
GRCh37:
Chr3:132399970
GRCh38:
Chr3:132681126
NPHP3-ACAD11, NPHP3NPHP3-related Meckel-like syndrome, Nephronophthisis 3, Renal-hepatic-pancreatic dysplasia 1
Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
24.
GRCh37:
Chr3:132399995
GRCh38:
Chr3:132681151
NPHP3, NPHP3-ACAD11not provided, Nephronophthisis 3, Renal-hepatic-pancreatic dysplasia 1,
NPHP3-related Meckel-like syndrome		Conflicting interpretations of pathogenicity
(Sep 10, 2021)		criteria provided, conflicting interpretations
25.
GRCh37:
Chr3:132400062
GRCh38:
Chr3:132681218
NPHP3, NPHP3-ACAD11Nephronophthisis 3, Renal-hepatic-pancreatic dysplasia 1, NPHP3-related Meckel-like syndrome
Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
26.
GRCh37:
Chr3:132400097
GRCh38:
Chr3:132681253
NPHP3-ACAD11, NPHP3Nephronophthisis 3, not provided, Renal-hepatic-pancreatic dysplasia 1,
NPHP3-related Meckel-like syndrome		Benign
(May 24, 2021)		criteria provided, multiple submitters, no conflicts
27.
GRCh37:
Chr3:132400099-132400100
GRCh38:
Chr3:132681255-132681256
NPHP3-ACAD11, NPHP3Meckel-Gruber syndrome, Nephronophthisis, Renal-hepatic-pancreatic dysplasia 1
Uncertain significance
(Jun 14, 2016)		criteria provided, single submitter
28.
GRCh37:
Chr3:132400101-132400102
GRCh38:
Chr3:132681257-132681258
NPHP3, NPHP3-ACAD11Meckel-Gruber syndrome, Nephronophthisis, Renal-hepatic-pancreatic dysplasia 1
Uncertain significance
(Jun 14, 2016)		criteria provided, single submitter
29.
GRCh37:
Chr3:132400102-132400103
GRCh38:
Chr3:132681258-132681259
NPHP3, NPHP3-ACAD11not providedBenign
(Jun 4, 2021)		criteria provided, single submitter
30.
GRCh37:
Chr3:132400102
GRCh38:
Chr3:132681258
NPHP3, NPHP3-ACAD11Meckel-Gruber syndrome, Nephronophthisis, Renal-hepatic-pancreatic dysplasia 1
Uncertain significance
(Jun 14, 2016)		criteria provided, single submitter
31.
GRCh37:
Chr3:132400103
GRCh38:
Chr3:132681259
NPHP3, NPHP3-ACAD11not providedBenign
(May 13, 2021)		criteria provided, single submitter
32.
GRCh37:
Chr3:132400103-132400104
GRCh38:
Chr3:132681259-132681260
NPHP3, NPHP3-ACAD11Nephronophthisis, Meckel-Gruber syndrome, not provided,
Renal-hepatic-pancreatic dysplasia 1		Conflicting interpretations of pathogenicity
(May 14, 2021)		criteria provided, conflicting interpretations
33.
GRCh37:
Chr3:132400128
GRCh38:
Chr3:132681284
NPHP3-ACAD11, NPHP3Renal-hepatic-pancreatic dysplasia 1, NPHP3-related Meckel-like syndrome, Nephronophthisis 3
Uncertain significance
(Jan 12, 2018)		criteria provided, single submitter
34.
GRCh37:
Chr3:132400235
GRCh38:
Chr3:132681391
NPHP3-ACAD11, NPHP3Nephronophthisis 3, Renal-hepatic-pancreatic dysplasia 1, NPHP3-related Meckel-like syndrome
Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
35.
GRCh37:
Chr3:132400317
GRCh38:
Chr3:132681473
NPHP3-ACAD11, NPHP3Renal-hepatic-pancreatic dysplasia 1, NPHP3-related Meckel-like syndrome, Nephronophthisis 3
Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
36.
GRCh37:
Chr3:132400403
GRCh38:
Chr3:132681559
NPHP3, NPHP3-ACAD11NPHP3-related Meckel-like syndrome, Renal-hepatic-pancreatic dysplasia 1, Nephronophthisis 3
Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
37.
GRCh37:
Chr3:132400488
GRCh38:
Chr3:132681644
NPHP3, NPHP3-ACAD11not provided, Nephronophthisis 3, Renal-hepatic-pancreatic dysplasia 1,
NPHP3-related Meckel-like syndrome		Benign/Likely benign
(Jun 28, 2018)		criteria provided, multiple submitters, no conflicts
38.
GRCh37:
Chr3:132400523
GRCh38:
Chr3:132681679
NPHP3, NPHP3-ACAD11Nephronophthisis, Meckel-Gruber syndrome, Renal-hepatic-pancreatic dysplasia 1
Uncertain significance
(Jun 14, 2016)		criteria provided, single submitter
39.
GRCh37:
Chr3:132400576
GRCh38:
Chr3:132681732
NPHP3-ACAD11, NPHP3Renal-hepatic-pancreatic dysplasia 1, Nephronophthisis 3, NPHP3-related Meckel-like syndrome
Uncertain significance
(Jan 12, 2018)		criteria provided, single submitter
40.
GRCh37:
Chr3:132400613
GRCh38:
Chr3:132681769
NPHP3-ACAD11, NPHP3Renal-hepatic-pancreatic dysplasia 1, Nephronophthisis 3, NPHP3-related Meckel-like syndrome
Uncertain significance
(Jan 12, 2018)		criteria provided, single submitter
41.
GRCh37:
Chr3:132400615
GRCh38:
Chr3:132681771
NPHP3-ACAD11, NPHP3Nephronophthisis 3, Renal-hepatic-pancreatic dysplasia 1, NPHP3-related Meckel-like syndrome
Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
42.
GRCh37:
Chr3:132400631-132400633
GRCh38:
Chr3:132681787-132681789
NPHP3-ACAD11, NPHP3Meckel-Gruber syndrome, Nephronophthisis, Renal-hepatic-pancreatic dysplasia 1
Uncertain significance
(Jun 14, 2016)		criteria provided, single submitter
43.
GRCh37:
Chr3:132400646
GRCh38:
Chr3:132681802
NPHP3, NPHP3-ACAD11Kidney disorderUncertain significance
(Feb 6, 2017)		criteria provided, single submitter
44.
GRCh37:
Chr3:132400708
GRCh38:
Chr3:132681864
NPHP3, NPHP3-ACAD11Nephronophthisis 3, Renal-hepatic-pancreatic dysplasia 1, NPHP3-related Meckel-like syndrome
Uncertain significance
(Jan 12, 2018)		criteria provided, single submitter
45.
GRCh37:
Chr3:132400757
GRCh38:
Chr3:132681913
NPHP3-ACAD11, NPHP3NephronophthisisLikely benign
(Sep 13, 2022)		criteria provided, single submitter
46.
GRCh37:
Chr3:132400776
GRCh38:
Chr3:132681932
NPHP3, NPHP3-ACAD11F1324SNephronophthisis, Kidney disorder, not specified,
not provided		Conflicting interpretations of pathogenicity
(Oct 28, 2022)		criteria provided, conflicting interpretations
47.
GRCh37:
Chr3:132400781-132400783
GRCh38:
Chr3:132681937-132681939
NPHP3, NPHP3-ACAD11N1322delNephronophthisis, not providedUncertain significance
(Aug 22, 2022)		criteria provided, multiple submitters, no conflicts
48.
GRCh37:
Chr3:132400788
GRCh38:
Chr3:132681944
NPHP3, NPHP3-ACAD11S1320YNephronophthisisUncertain significance
(Mar 17, 2022)		criteria provided, single submitter
49.
GRCh37:
Chr3:132400806
GRCh38:
Chr3:132681962
NPHP3, NPHP3-ACAD11S1314TNephronophthisis, NPHP3-related Meckel-like syndrome, Renal-hepatic-pancreatic dysplasia 1,
Nephronophthisis 3, not provided, not specified,
Nephronophthisis 3, NPHP3-related Meckel-like syndrome, Renal-hepatic-pancreatic dysplasia 1
Benign/Likely benign
(Nov 3, 2022)		criteria provided, multiple submitters, no conflicts
50.
GRCh37:
Chr3:132400811
GRCh38:
Chr3:132681967
NPHP3, NPHP3-ACAD11not providedUncertain significance
(Dec 27, 2016)		criteria provided, single submitter
51.
GRCh37:
Chr3:132400812
GRCh38:
Chr3:132681968
NPHP3, NPHP3-ACAD11T1312MNephronophthisisUncertain significance
(May 15, 2022)		criteria provided, single submitter
52.
GRCh37:
Chr3:132400813
GRCh38:
Chr3:132681969
NPHP3, NPHP3-ACAD11T1312fsnot providedUncertain significance
(Sep 16, 2018)		no assertion criteria provided
53.
GRCh37:
Chr3:132400833
GRCh38:
Chr3:132681989
NPHP3, NPHP3-ACAD11R1305HNephronophthisisUncertain significance
(Aug 27, 2021)		criteria provided, single submitter
54.
GRCh37:
Chr3:132400834
GRCh38:
Chr3:132681990
NPHP3-ACAD11, NPHP3R1305CNephronophthisis, Kidney disorder, not provided,
not specified, Nephronophthisis 3, NPHP3-related Meckel-like syndrome,
Renal-hepatic-pancreatic dysplasia 1		Benign/Likely benign
(Nov 1, 2022)		criteria provided, multiple submitters, no conflicts
55.
GRCh37:
Chr3:132400835
GRCh38:
Chr3:132681991
NPHP3, NPHP3-ACAD11NephronophthisisLikely benign
(Apr 14, 2021)		criteria provided, single submitter
56.
GRCh37:
Chr3:132400840
GRCh38:
Chr3:132681996
NPHP3, NPHP3-ACAD11P1303SNephronophthisis, Nephronophthisis 3, Renal-hepatic-pancreatic dysplasia 1,
NPHP3-related Meckel-like syndrome		Uncertain significance
(Nov 4, 2021)		criteria provided, multiple submitters, no conflicts
57.
GRCh37:
Chr3:132400846
GRCh38:
Chr3:132682002
NPHP3, NPHP3-ACAD11K1301QNPHP3-related Meckel-like syndrome, Nephronophthisis 3, Renal-hepatic-pancreatic dysplasia 1,
not provided, Nephronophthisis		Uncertain significance
(Jan 6, 2022)		criteria provided, multiple submitters, no conflicts
58.
GRCh37:
Chr3:132400849
GRCh38:
Chr3:132682005
NPHP3, NPHP3-ACAD11G1300RNephronophthisis, Renal-hepatic-pancreatic dysplasia 1, Nephronophthisis 3,
NPHP3-related Meckel-like syndrome		Uncertain significance
(Oct 14, 2021)		criteria provided, multiple submitters, no conflicts
59.
GRCh37:
Chr3:132400851
GRCh38:
Chr3:132682007
NPHP3, NPHP3-ACAD11G1299Dnot provided, NPHP3-related Meckel-like syndrome, Renal-hepatic-pancreatic dysplasia 1,
Nephronophthisis 3, Nephronophthisis		Conflicting interpretations of pathogenicity
(Oct 13, 2022)		criteria provided, conflicting interpretations
60.
GRCh37:
Chr3:132400856
GRCh38:
Chr3:132682012
NPHP3-ACAD11, NPHP3NephronophthisisLikely benign
(Sep 1, 2022)		criteria provided, single submitter
61.
GRCh37:
Chr3:132400863
GRCh38:
Chr3:132682019
NPHP3-ACAD11, NPHP3T1295INephronophthisisUncertain significance
(May 15, 2022)		criteria provided, single submitter
62.
GRCh37:
Chr3:132400870-132400872
GRCh38:
Chr3:132682026-132682028
NPHP3, NPHP3-ACAD11E1292delNephronophthisisUncertain significance
(Jul 26, 2022)		criteria provided, single submitter
63.
GRCh37:
Chr3:132400872
GRCh38:
Chr3:132682028
NPHP3, NPHP3-ACAD11E1292ANephronophthisis 3, Renal-hepatic-pancreatic dysplasia 1, NPHP3-related Meckel-like syndrome
Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
64.
GRCh37:
Chr3:132400881
GRCh38:
Chr3:132682037
NPHP3, NPHP3-ACAD11E1289ANephronophthisisUncertain significance
(Feb 2, 2022)		criteria provided, single submitter
65.
GRCh37:
Chr3:132400884
GRCh38:
Chr3:132682040
NPHP3, NPHP3-ACAD11M1288Tnot providedUncertain significance
(Sep 18, 2018)		criteria provided, single submitter
66.
GRCh37:
Chr3:132400889
GRCh38:
Chr3:132682045
NPHP3-ACAD11, NPHP3R1286SNephronophthisisUncertain significance
(May 14, 2022)		criteria provided, single submitter
67.
GRCh37:
Chr3:132400890
GRCh38:
Chr3:132682046
NPHP3, NPHP3-ACAD11R1286KNephronophthisisUncertain significance
(Sep 1, 2021)		criteria provided, single submitter
68.
GRCh37:
Chr3:132400901
GRCh38:
Chr3:132682057
NPHP3-ACAD11, NPHP3NephronophthisisLikely benign
(Mar 30, 2022)		criteria provided, single submitter
69.
GRCh37:
Chr3:132400906
GRCh38:
Chr3:132682062
NPHP3, NPHP3-ACAD11A1281TNephronophthisisUncertain significance
(Sep 24, 2021)		criteria provided, single submitter
70.
GRCh37:
Chr3:132400909
GRCh38:
Chr3:132682065
NPHP3-ACAD11, NPHP3A1280TNephronophthisisUncertain significance
(Mar 9, 2022)		criteria provided, single submitter
71.
GRCh37:
Chr3:132400909-132400910
GRCh38:
Chr3:132682065-132682066
NPHP3, NPHP3-ACAD11A1280fsNephronophthisis 3, not providedConflicting interpretations of pathogenicity
(Feb 1, 2020)		criteria provided, conflicting interpretations
72.
GRCh37:
Chr3:132400914
GRCh38:
Chr3:132682070
NPHP3, NPHP3-ACAD11E1278VNephronophthisis, Nephronophthisis 3, NPHP3-related Meckel-like syndrome,
Renal-hepatic-pancreatic dysplasia 1		Uncertain significance
(Jul 19, 2022)		criteria provided, multiple submitters, no conflicts
73.
GRCh37:
Chr3:132400915
GRCh38:
Chr3:132682071
NPHP3, NPHP3-ACAD11E1278QNephronophthisisUncertain significance
(Oct 12, 2021)		criteria provided, single submitter
74.
GRCh37:
Chr3:132400921-132400923
GRCh38:
Chr3:132682077-132682079
NPHP3, NPHP3-ACAD11G1275delNephronophthisis 3, NPHP3-related Meckel-like syndrome, Renal-hepatic-pancreatic dysplasia 1,
Nephronophthisis		Pathogenic/Likely pathogenic
(Jul 18, 2022)		criteria provided, multiple submitters, no conflicts
75.
GRCh37:
Chr3:132400927
GRCh38:
Chr3:132682083
NPHP3, NPHP3-ACAD11G1274*NephronophthisisLikely pathogenic
(Aug 27, 2021)		criteria provided, single submitter
76.
GRCh37:
Chr3:132400931
GRCh38:
Chr3:132682087
NPHP3, NPHP3-ACAD11Nephronophthisis, Renal-hepatic-pancreatic dysplasia 1, Nephronophthisis 3,
NPHP3-related Meckel-like syndrome		Likely benign
(Sep 6, 2022)		criteria provided, multiple submitters, no conflicts
77.
GRCh37:
Chr3:132400939-132400942
GRCh38:
Chr3:132682095-132682098
NPHP3, NPHP3-ACAD11NephronophthisisUncertain significance
(Aug 22, 2022)		criteria provided, single submitter
78.
GRCh37:
Chr3:132400944
GRCh38:
Chr3:132682100
NPHP3, NPHP3-ACAD11NPHP3-related Meckel-like syndrome, Renal-hepatic-pancreatic dysplasia 1, Nephronophthisis 3,
Nephronophthisis		Benign/Likely benign
(Jun 23, 2022)		criteria provided, multiple submitters, no conflicts
79.
GRCh37:
Chr3:132400946
GRCh38:
Chr3:132682102
NPHP3, NPHP3-ACAD11NephronophthisisBenign
(Apr 1, 2021)		criteria provided, single submitter
80.
GRCh37:
Chr3:132401257
GRCh38:
Chr3:132682413
NPHP3, NPHP3-ACAD11not providedBenign
(Jun 16, 2018)		criteria provided, single submitter
81.
GRCh37:
Chr3:132401421
GRCh38:
Chr3:132682577
NPHP3, NPHP3-ACAD11not providedBenign
(Jun 14, 2018)		criteria provided, single submitter
82.
GRCh37:
Chr3:132401430
GRCh38:
Chr3:132682586
NPHP3, NPHP3-ACAD11not providedBenign
(Nov 8, 2018)		criteria provided, single submitter
83.
GRCh37:
Chr3:132401505
GRCh38:
Chr3:132682661
NPHP3-ACAD11, NPHP3not specifiedBenigncriteria provided, single submitter
84.
GRCh37:
Chr3:132401530-132401531
GRCh38:
Chr3:132682686-132682687
NPHP3, NPHP3-ACAD11NephronophthisisLikely benign
(Jun 3, 2022)		criteria provided, single submitter
85.
GRCh37:
Chr3:132401531
GRCh38:
Chr3:132682687
NPHP3-ACAD11, NPHP3Nephronophthisis, Renal-hepatic-pancreatic dysplasia 1, Nephronophthisis 3,
NPHP3-related Meckel-like syndrome		Likely benign
(Aug 6, 2022)		criteria provided, multiple submitters, no conflicts
86.
GRCh37:
Chr3:132401538
GRCh38:
Chr3:132682694
NPHP3, NPHP3-ACAD11not providedUncertain significance
(Sep 14, 2017)		criteria provided, single submitter
87.
GRCh37:
Chr3:132401543
GRCh38:
Chr3:132682699
NPHP3-ACAD11, NPHP3NephronophthisisUncertain significance
(May 25, 2022)		criteria provided, single submitter
88.
GRCh37:
Chr3:132401546
GRCh38:
Chr3:132682702
NPHP3-ACAD11, NPHP3NephronophthisisPathogenic
(Sep 2, 2021)		criteria provided, single submitter
89.
GRCh37:
Chr3:132401550
GRCh38:
Chr3:132682706
NPHP3-ACAD11, NPHP3L1270Pnot provided, Nephronophthisis, Nephronophthisis 3,
Renal-hepatic-pancreatic dysplasia 1, NPHP3-related Meckel-like syndrome		Uncertain significance
(Jun 11, 2022)		criteria provided, multiple submitters, no conflicts
90.
GRCh37:
Chr3:132401554
GRCh38:
Chr3:132682710
NPHP3, NPHP3-ACAD11V1269MNephronophthisis, NPHP3-related Meckel-like syndrome, Renal-hepatic-pancreatic dysplasia 1,
Nephronophthisis 3		Uncertain significance
(Aug 22, 2022)		criteria provided, multiple submitters, no conflicts
91.
GRCh37:
Chr3:132401572
GRCh38:
Chr3:132682728
NPHP3-ACAD11, NPHP3T1263fsNephronophthisisPathogenic
(Nov 8, 2021)		criteria provided, single submitter
92.
GRCh37:
Chr3:132401572
GRCh38:
Chr3:132682728
NPHP3, NPHP3-ACAD11T1263ANephronophthisisUncertain significance
(Oct 24, 2022)		criteria provided, single submitter
93.
GRCh37:
Chr3:132401574
GRCh38:
Chr3:132682730
NPHP3, NPHP3-ACAD11E1262GNephronophthisisUncertain significance
(Aug 15, 2022)		criteria provided, single submitter
94.
GRCh37:
Chr3:132401584
GRCh38:
Chr3:132682740
NPHP3, NPHP3-ACAD11R1259*Nephronophthisis 3, Nephronophthisis 3, NPHP3-related Meckel-like syndrome,
Renal-hepatic-pancreatic dysplasia 1, Nephronophthisis		Pathogenic/Likely pathogenic
(Mar 31, 2022)		criteria provided, multiple submitters, no conflicts
95.
GRCh37:
Chr3:132401586
GRCh38:
Chr3:132682742
NPHP3, NPHP3-ACAD11P1258HNephronophthisisUncertain significance
(Jan 26, 2022)		criteria provided, single submitter
96.
GRCh37:
Chr3:132401595
GRCh38:
Chr3:132682751
NPHP3, NPHP3-ACAD11R1255QNephronophthisis, not providedUncertain significance
(Aug 12, 2022)		criteria provided, multiple submitters, no conflicts
97.
GRCh37:
Chr3:132401596
GRCh38:
Chr3:132682752
NPHP3-ACAD11, NPHP3R1255WNephronophthisis, Inborn genetic diseases, Renal-hepatic-pancreatic dysplasia 1,
Renal-hepatic-pancreatic dysplasia 1, NPHP3-related Meckel-like syndrome, Nephronophthisis 3,
not provided, Nephronophthisis 3, NPHP3-related Meckel-like syndrome
Conflicting interpretations of pathogenicity
(Oct 17, 2022)		criteria provided, conflicting interpretations
98.
GRCh37:
Chr3:132401600
GRCh38:
Chr3:132682756
NPHP3-ACAD11, NPHP3Nephronophthisis, not specified, Renal-hepatic-pancreatic dysplasia 1,
NPHP3-related Meckel-like syndrome, Nephronophthisis 3		Benign
(Nov 3, 2022)		criteria provided, multiple submitters, no conflicts
99.
GRCh37:
Chr3:132401602
GRCh38:
Chr3:132682758
NPHP3-ACAD11, NPHP3L1253MNephronophthisisUncertain significance
(Jun 7, 2022)		criteria provided, single submitter
100.
GRCh37:
Chr3:132401602
GRCh38:
Chr3:132682758
NPHP3-ACAD11, NPHP3L1253VNephronophthisis 3, NPHP3-related Meckel-like syndrome, Renal-hepatic-pancreatic dysplasia 1,
Nephronophthisis 3		Likely pathogenic
(Dec 13, 2021)		criteria provided, multiple submitters, no conflicts
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