| - GRCh37:
- Chr3:93519464-145413168
- GRCh38:
- Chr3:93800620-145695381
| 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, GSK3B-DT, 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, LINC00973, LINC01205, LINC01210, LINC01215, LINC01391, LINC01471, LINC01565, LINC01990, LINC02000, LINC02004, LINC02014, LINC02016, LINC02021, LINC02024, LINC02035, LINC02042, LINC02044, LINC02049, LINC02614, LINC02618, LINC03051, LNP1, LOC100289361, LOC100507389, LOC101926953, 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, 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, NEPRO-AS1, 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, PLS1-AS1, 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, SLC41A3-AS1, 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 | | See cases | Pathogenic (Mar 18, 2014) | no assertion criteria provided |
| - GRCh37:
- Chr3:103145726-197837049
- GRCh38:
- Chr3:103426882-198110178
| 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, 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, GSK3B-DT, 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, 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, LINC03109, LIPH, LMLN, LMLN-AS1, LNCSRLR, LOC100131635, LOC100287290, LOC100289361, LOC100507389, LOC101926953, LOC101926968, LOC101928105, LOC101928166, LOC101928882, LOC101929106, LOC101929130, LOC102724604, LOC105374042, LOC105374060, LOC105374194, LOC105374297, LOC105374312, LOC105374313, LOC106660625, LOC107133517, LOC107986163, LOC108004531, LOC108004532, LOC108192211, 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, 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, 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, NEPRO-AS1, 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, PLS1-AS1, 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, SLC41A3-AS1, 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 | | See cases | Pathogenic (Jan 5, 2011) | no assertion criteria provided |
| - 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, PLS1-AS1, 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 cases | Pathogenic (Dec 22, 2010) | no assertion criteria provided |
| - GRCh37:
- Chr3:132435822-144503585
- GRCh38:
- Chr3:132716978-144784743
| DZIP1L, LOC108281117, LOC110120612, LOC110120613, LOC110121244, LOC111365202, LOC112903840, LOC112903842, LOC115995522, LOC115995525, LOC115995526, LOC112903835, LOC112903836, LOC112903837, LOC112903838, LOC112903839, LOC115995523, LOC115995524, LOC121048710, LOC121048711, LOC121048712, LOC121048713, LOC121048714, EPHB1, ESYT3, FAIM, FOXL2, GK5, GRK7, IL20RB, IL20RB-AS1, KY, FOXL2NB, LINC01210, LINC01391, DIPK2A, LINC02000, LINC02004, LINC02618, LOC100289361, LOC100507389, LOC110120614, LOC110120732, LOC110120785, A4GNT, AMOTL2, CEP63, CEP70, CHST2, CLDN18, CLSTN2, DBR1, ANAPC13, ARMC8, ATP1B3, CLSTN2-AS1, COPB2, COPB2-DT, ATR, BFSP2, BFSP2-AS1, BPESC1, C3orf36, CDV3, LOC121048715, LOC121048716, LOC121725155, LOC123038185, LOC123038186, LOC123038187, LOC123038188, LOC123038189, LOC123038190, LOC123038191, LOC123038192, LOC123038193, LOC123038194, LOC123038195, LOC126806816, LOC126806817, LOC126806818, LOC126806819, LOC126806820, LOC126806821, LOC126806822, LOC126806823, LOC126806824, LOC126806825, LOC126806826, LOC126806827, LOC126806828, LOC126806829, LOC126806830, LOC126806831, LOC126806832, LOC126806833, MIR4788, MIR6827, MRAS, MRPS22, MSL2, NCK1, NCK1-DT, NME9, NMNAT3, NPHP3, NPHP3-ACAD11, NPHP3-AS1, PAQR9, PAQR9-AS1, PCCB, PCOLCE2, PIK3CB, PISRT1, PLS1, PLS1-AS1, PPP2R3A, PRR23A, PRR23B, PRR23C, PXYLP1, RAB6B, RASA2, RBP1, RBP2, RNF7, RYK, SLC25A36, SLC35G2, SLC9A9, SLC9A9-AS1, SLCO2A1, SOX14, SPSB4, SRPRB, STAG1, TF, TFDP2, TMEM108, TMEM108-AS1, TOPBP1, TRIM42, TRPC1, U2SURP, XRN1, ZBTB38 | | See cases | Pathogenic (Jul 18, 2014) | no assertion criteria provided |
| - 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, 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, LOC440982, MIR4788, MIR6827, MRAS, MRPS22, MSL2, NCK1, NCK1-DT, NME9, NMNAT3, PAQR9, PAQR9-AS1, PCCB, PCOLCE2, PIK3CB, PISRT1, PLOD2, PLS1, PLS1-AS1, 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 cases | Pathogenic (Jan 31, 2012) | no assertion criteria provided |
| - GRCh37:
- Chr3:134946293-145588557
- GRCh38:
- Chr3:135227451-145870770
| A4GNT, ARMC8, ATP1B3, ATR, BPESC1, CEP70, CHST2, CLDN18, CLSTN2, CLSTN2-AS1, COPB2, COPB2-DT, DBR1, DIPK2A, DZIP1L, EPHB1, ESYT3, FAIM, FOXL2, FOXL2NB, GK5, GRK7, IL20RB, IL20RB-AS1, LINC01210, LINC01391, LINC02618, LOC100289361, LOC100507389, LOC108281117, LOC110120612, LOC110120613, LOC110120614, LOC110120732, LOC110120785, LOC110121244, LOC112903838, LOC112903839, LOC112903840, LOC112903842, LOC115995522, LOC115995523, LOC115995524, LOC115995525, LOC115995526, LOC121048712, LOC121048713, LOC121048714, LOC121048715, LOC121048716, LOC123038189, LOC123038190, LOC123038191, LOC123038192, LOC123038193, LOC123038194, LOC123038195, LOC123192011, LOC126806819, LOC126806820, LOC126806821, LOC126806822, LOC126806823, LOC126806824, LOC126806825, LOC126806826, LOC126806827, LOC126806828, LOC126806829, LOC126806830, LOC126806831, LOC126806832, LOC126806833, LOC126806834, LOC126806835, MRAS, MRPS22, MSL2, NCK1, NCK1-DT, NME9, NMNAT3, PAQR9, PAQR9-AS1, PCCB, PCOLCE2, PIK3CB, PISRT1, PLS1, PLS1-AS1, PPP2R3A, PRR23A, PRR23B, PRR23C, PXYLP1, RASA2, RBP1, RBP2, RNF7, SLC25A36, SLC35G2, SLC9A9, SLC9A9-AS1, SOX14, SPSB4, STAG1, TFDP2, TRIM42, TRPC1, U2SURP, XRN1, ZBTB38 | | See cases | Pathogenic (Aug 12, 2011) | criteria provided, single submitter |
| - GRCh37:
- Chr3:137650842-144187581
- GRCh38:
- Chr3:137932000-144468739
| A4GNT, ARMC8, ATP1B3, ATR, BPESC1, CEP70, CHST2, CLDN18, CLSTN2, CLSTN2-AS1, COPB2, COPB2-DT, DBR1, DIPK2A, DZIP1L, ESYT3, FAIM, FOXL2, FOXL2NB, GK5, GRK7, LINC01391, LINC02618, LOC100289361, LOC100507389, LOC110121244, LOC112903839, LOC112903840, LOC112903842, LOC115995523, LOC115995524, LOC115995525, LOC115995526, LOC121048712, LOC121048713, LOC121048714, LOC121048715, LOC121048716, LOC123038192, LOC123038193, LOC123038194, LOC123038195, LOC126806823, LOC126806824, LOC126806825, LOC126806826, LOC126806827, LOC126806828, LOC126806829, LOC126806830, LOC126806831, LOC126806832, LOC126806833, MRAS, MRPS22, NME9, NMNAT3, PAQR9, PAQR9-AS1, PCOLCE2, PIK3CB, PISRT1, PLS1, PLS1-AS1, PRR23A, PRR23B, PRR23C, PXYLP1, RASA2, RBP1, RBP2, RNF7, SLC25A36, SLC9A9, SLC9A9-AS1, SPSB4, TFDP2, TRIM42, TRPC1, U2SURP, XRN1, ZBTB38 | | See cases | Pathogenic (Jul 30, 2010) | no assertion criteria provided |
| - GRCh37:
- Chr3:137709965-143337628
- GRCh38:
- Chr3:137991123-143618786
| A4GNT, ARMC8, ATP1B3, ATR, BPESC1, CEP70, CHST2, CLDN18, CLSTN2, CLSTN2-AS1, COPB2, COPB2-DT, DBR1, DZIP1L, ESYT3, FAIM, FOXL2, FOXL2NB, GK5, GRK7, LINC01391, LINC02618, LOC100289361, LOC100507389, LOC110121244, LOC112903839, LOC112903840, LOC112903842, LOC115995523, LOC115995524, LOC115995525, LOC115995526, LOC121048712, LOC121048713, LOC121048714, LOC121048715, LOC121048716, LOC123038192, LOC123038193, LOC123038194, LOC123038195, LOC126806823, LOC126806824, LOC126806825, LOC126806826, LOC126806827, LOC126806828, LOC126806829, LOC126806830, LOC126806831, LOC126806832, MRAS, MRPS22, NME9, NMNAT3, PAQR9, PAQR9-AS1, PCOLCE2, PIK3CB, PISRT1, PLS1, PLS1-AS1, PRR23A, PRR23B, PRR23C, PXYLP1, RASA2, RBP1, RBP2, RNF7, SLC25A36, SLC9A9, SLC9A9-AS1, SPSB4, TFDP2, TRIM42, TRPC1, U2SURP, XRN1, ZBTB38 | | See cases | Pathogenic (May 14, 2012) | no assertion criteria provided |
| - GRCh37:
- Chr3:141470802-147963976
- GRCh38:
- Chr3:141751960-148246189
| ATP1B3, ATR, CHST2, DIPK2A, GK5, GRK7, LINC02010, LINC02032, LINC02045, LNCSRLR, LOC100289361, LOC100507389, LOC110120615, LOC110120733, LOC110120973, LOC110121014, LOC110121026, LOC110121033, LOC110121146, LOC110121244, LOC112903842, LOC112935896, LOC115995524, LOC115995525, LOC115995526, LOC121048715, LOC121048716, LOC123038194, LOC123038195, LOC123192011, LOC124909494, LOC126806830, LOC126806831, LOC126806832, LOC126806833, LOC126806834, LOC126806835, LOC126806836, LOC126806837, LOC440982, PAQR9, PAQR9-AS1, PCOLCE2, PLOD2, PLS1, PLS1-AS1, PLSCR1, PLSCR2, PLSCR4, PLSCR5, SLC9A9, SLC9A9-AS1, TFDP2, TRPC1, U2SURP, XRN1, ZIC1, ZIC4, ZIC4-AS1 | | See cases | Pathogenic (Aug 12, 2011) | criteria provided, single submitter |
| - GRCh37:
- Chr3:142167976
- GRCh38:
- Chr3:142449134
| ATR | | not provided | Benign (Jun 16, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr3:142168169
- GRCh38:
- Chr3:142449327
| ATR | | Seckel syndrome 1 | Uncertain significance (Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr3:142168199
- GRCh38:
- Chr3:142449357
| ATR | | Seckel syndrome 1 | Uncertain significance (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr3:142168275
- GRCh38:
- Chr3:142449433
| ATR | M2580T, M2644T | Inborn genetic diseases | Uncertain significance (Aug 24, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr3:142168280
- GRCh38:
- Chr3:142449438
| ATR | | Inborn genetic diseases | Likely benign (Oct 15, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr3:142168282
- GRCh38:
- Chr3:142449440
| ATR | P2578A, P2642A | Inborn genetic diseases, not provided | Uncertain significance (Jul 19, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:142168284
- GRCh38:
- Chr3:142449442
| ATR | T2577I, T2641I | not provided | Uncertain significance (Jan 2, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr3:142168293
- GRCh38:
- Chr3:142449451
| ATR | L2574P, L2638P | Inborn genetic diseases | Uncertain significance (Mar 31, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr3:142168300
- GRCh38:
- Chr3:142449458
| ATR | M2636L, M2572L | Inborn genetic diseases | Uncertain significance (Jan 25, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr3:142168304
- GRCh38:
- Chr3:142449462
| ATR | | Inborn genetic diseases, Seckel syndrome 1, Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome, Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome, Seckel syndrome 1, not provided
| Likely benign (Feb 8, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:142168307
- GRCh38:
- Chr3:142449465
| ATR | | Inborn genetic diseases, not provided, Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome, not specified, Seckel syndrome 1 | Likely benign (Feb 8, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:142168312
- GRCh38:
- Chr3:142449470
| ATR | L2568V, L2632V | Inborn genetic diseases | Uncertain significance (Dec 15, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr3:142168312
- GRCh38:
- Chr3:142449470
| ATR | | Inborn genetic diseases | Likely benign (Jun 18, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr3:142168313
- GRCh38:
- Chr3:142449471
| ATR | N2567K, N2631K | Inborn genetic diseases | Uncertain significance (May 5, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr3:142168316
- GRCh38:
- Chr3:142449474
| ATR | | Inborn genetic diseases | Likely benign (Dec 4, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr3:142168321
- GRCh38:
- Chr3:142449479
| ATR | D2565H, D2629H | Inborn genetic diseases | Uncertain significance (Jun 10, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr3:142168321
- GRCh38:
- Chr3:142449479
| ATR | D2629N, D2565N | Inborn genetic diseases | Uncertain significance (May 7, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr3:142168322
- GRCh38:
- Chr3:142449480
| ATR | | Inborn genetic diseases | Likely benign (Dec 18, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr3:142168331
- GRCh38:
- Chr3:142449489
| ATR | | not specified, not provided, Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome, Seckel syndrome 1 | Benign/Likely benign (Jul 7, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:142168342
- GRCh38:
- Chr3:142449500
| ATR | Y2558H, Y2622H | Inborn genetic diseases, not provided, Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome, Seckel syndrome 1 | Uncertain significance (Feb 8, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:142168343
- GRCh38:
- Chr3:142449501
| ATR | | not provided, Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome, Inborn genetic diseases, Seckel syndrome 1 | Likely benign (Feb 8, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:142168345
- GRCh38:
- Chr3:142449503
| ATR | H2621Y, H2557Y | Inborn genetic diseases | Uncertain significance (Sep 30, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr3:142168347
- GRCh38:
- Chr3:142449505
| ATR | V2556A, V2620A | not specified | Uncertain significance (Dec 5, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr3:142168348
- GRCh38:
- Chr3:142449506
| ATR | V2620M, V2556M | not provided | Uncertain significance (Aug 27, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr3:142168367
- GRCh38:
- Chr3:142449525
| ATR | | not provided, Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome, Inborn genetic diseases, Seckel syndrome 1 | Likely benign (Feb 8, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:142168377
- GRCh38:
- Chr3:142449535
| ATR | T2546R, T2610R | Inborn genetic diseases | Uncertain significance (Jun 15, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr3:142168383-142168384
- GRCh38:
- Chr3:142449541-142449542
| ATR | R2544fs, R2608fs | not provided | Uncertain significance (Aug 14, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr3:142168383
- GRCh38:
- Chr3:142449541
| ATR | R2608K, R2544K | Inborn genetic diseases | Uncertain significance (Sep 19, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr3:142168389
- GRCh38:
- Chr3:142449547
| ATR | R2542Q, R2606Q | not provided, Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome, Inborn genetic diseases, Seckel syndrome 1 | Uncertain significance (Feb 8, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:142168398
- GRCh38:
- Chr3:142449556
| ATR | I2539T, I2603T | Inborn genetic diseases | Uncertain significance (Feb 3, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr3:142168404
- GRCh38:
- Chr3:142449562
| ATR | G2601D, G2537D | not provided | Uncertain significance (Aug 26, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr3:142168406
- GRCh38:
- Chr3:142449564
| ATR | | Seckel syndrome 1, not provided, Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome, Inborn genetic diseases | Likely benign (Feb 8, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:142168413
- GRCh38:
- Chr3:142449571
| ATR | R2534L, R2598L | Inborn genetic diseases | Uncertain significance (Aug 7, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr3:142168414
- GRCh38:
- Chr3:142449572
| ATR | R2598*, R2534* | not provided | Uncertain significance (Feb 7, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr3:142168415
- GRCh38:
- Chr3:142449573
| ATR | | Inborn genetic diseases, not provided, Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome, Seckel syndrome 1 | Likely benign (Feb 8, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:142168420
- GRCh38:
- Chr3:142449578
| ATR | E2532K, E2596K | Inborn genetic diseases | Uncertain significance (Sep 7, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr3:142168424
- GRCh38:
- Chr3:142449582
| ATR | | Inborn genetic diseases | Likely benign (Oct 27, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr3:142168426
- GRCh38:
- Chr3:142449584
| ATR | D2594H, D2530H | not provided, Inborn genetic diseases, Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome, Seckel syndrome 1 | Uncertain significance (Feb 8, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:142168433
- GRCh38:
- Chr3:142449591
| ATR | | Inborn genetic diseases, not provided | Likely benign (Feb 10, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:142168435
- GRCh38:
- Chr3:142449593
| ATR | H2527Y, H2591Y | Inborn genetic diseases | Uncertain significance (Jun 14, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr3:142168436
- GRCh38:
- Chr3:142449594
| ATR | | Inborn genetic diseases | Likely benign (May 1, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr3:142168436
- GRCh38:
- Chr3:142449594
| ATR | | Seckel syndrome 1, Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome, not provided, Inborn genetic diseases | Likely benign (Feb 8, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:142168437
- GRCh38:
- Chr3:142449595
| ATR | T2526I, T2590I | Inborn genetic diseases | Uncertain significance (Mar 3, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr3:142168460
- GRCh38:
- Chr3:142449618
| ATR | | not provided | Likely benign (Apr 19, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr3:142168462
- GRCh38:
- Chr3:142449620
| ATR | | not provided | Likely benign (Oct 4, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr3:142168618
- GRCh38:
- Chr3:142449776
| ATR | | not provided | Benign (Jun 16, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr3:142168652
- GRCh38:
- Chr3:142449810
| ATR | | Hereditary cancer-predisposing syndrome | Likely benign (Dec 1, 2015) | no assertion criteria provided |
| - GRCh37:
- Chr3:142168653
- GRCh38:
- Chr3:142449811
| ATR | | Hereditary cancer-predisposing syndrome | Likely benign (Dec 1, 2015) | no assertion criteria provided |
| - GRCh37:
- Chr3:142168883
- GRCh38:
- Chr3:142450041
| ATR | | Hereditary cancer-predisposing syndrome | Likely benign (Dec 1, 2015) | no assertion criteria provided |
| - GRCh37:
- Chr3:142169168
- GRCh38:
- Chr3:142450326
| ATR | | Hereditary cancer-predisposing syndrome | Likely benign (Dec 1, 2015) | no assertion criteria provided |
| - GRCh37:
- Chr3:142171595
- GRCh38:
- Chr3:142452753
| ATR | | Hereditary cancer-predisposing syndrome | Likely benign (Dec 1, 2015) | no assertion criteria provided |
| - GRCh37:
- Chr3:142171691
- GRCh38:
- Chr3:142452849
| ATR | | not provided | Likely benign (Apr 26, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr3:142171968
- GRCh38:
- Chr3:142453126
| ATR | | not provided | Likely pathogenic (Feb 1, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr3:142171979
- GRCh38:
- Chr3:142453137
| ATR | | Inborn genetic diseases | Likely benign (Nov 23, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr3:142171983
- GRCh38:
- Chr3:142453141
| ATR | V2583A, V2519A | Inborn genetic diseases | Uncertain significance (Sep 20, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr3:142171985
- GRCh38:
- Chr3:142453143
| ATR | | Inborn genetic diseases | Likely benign (Mar 23, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr3:142171988
- GRCh38:
- Chr3:142453146
| ATR | | Inborn genetic diseases | Likely benign (Aug 21, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr3:142171997
- GRCh38:
- Chr3:142453155
| ATR | N2578K, N2514K | Inborn genetic diseases | Uncertain significance (Feb 23, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr3:142171999
- GRCh38:
- Chr3:142453157
| ATR | N2514Y, N2578Y | Inborn genetic diseases, not provided, Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome, Seckel syndrome 1 | Uncertain significance (Feb 8, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:142172002
- GRCh38:
- Chr3:142453160
| ATR | | Inborn genetic diseases | Likely benign (Mar 1, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr3:142172003
- GRCh38:
- Chr3:142453161
| ATR | | Inborn genetic diseases, Seckel syndrome 1, Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome, not provided | Likely benign (Feb 8, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:142172005
- GRCh38:
- Chr3:142453163
| ATR | P2576S, P2512S | Inborn genetic diseases | Uncertain significance (Oct 30, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr3:142172006
- GRCh38:
- Chr3:142453164
| ATR | | Inborn genetic diseases | Likely benign (Nov 11, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr3:142172006
- GRCh38:
- Chr3:142453164
| ATR | | not provided, Inborn genetic diseases, Seckel syndrome 1
| Conflicting interpretations of pathogenicity (Sep 1, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr3:142172007
- GRCh38:
- Chr3:142453165
| ATR | A2575E, A2511E | Inborn genetic diseases | Uncertain significance (Dec 20, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr3:142172007
- GRCh38:
- Chr3:142453165
| ATR | A2511V, A2575V | not provided | Uncertain significance (Nov 1, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr3:142172021
- GRCh38:
- Chr3:142453179
| ATR | | Inborn genetic diseases | Likely benign (Apr 9, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr3:142172022
- GRCh38:
- Chr3:142453180
| ATR | K2506R, K2570R | Inborn genetic diseases | Uncertain significance (Sep 2, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr3:142172024
- GRCh38:
- Chr3:142453182
| ATR | | Inborn genetic diseases | Likely benign (Nov 26, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr3:142172024
- GRCh38:
- Chr3:142453182
| ATR | | Inborn genetic diseases | Likely benign (Sep 27, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr3:142172026
- GRCh38:
- Chr3:142453184
| ATR | V2505M, V2569M | Inborn genetic diseases | Uncertain significance (Feb 5, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr3:142172029
- GRCh38:
- Chr3:142453187
| ATR | P2504S, P2568S | Inborn genetic diseases | Uncertain significance (Jan 12, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr3:142172039
- GRCh38:
- Chr3:142453197
| ATR | E2500D, E2564D | Inborn genetic diseases | Uncertain significance (Dec 10, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr3:142172039
- GRCh38:
- Chr3:142453197
| ATR | | Inborn genetic diseases | Likely benign (Jun 13, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr3:142172042
- GRCh38:
- Chr3:142453200
| ATR | | not provided | Uncertain significance (Aug 27, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr3:142172062
- GRCh38:
- Chr3:142453220
| ATR | F2493L, F2557L | Inborn genetic diseases | Uncertain significance (Sep 20, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr3:142172064
- GRCh38:
- Chr3:142453222
| ATR | T2556S, T2492S | not provided, Seckel syndrome 1 | Conflicting interpretations of pathogenicity (Sep 23, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr3:142172066
- GRCh38:
- Chr3:142453224
| ATR | | not provided | Likely benign (Jan 12, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr3:142172069
- GRCh38:
- Chr3:142453227
| ATR | | not provided, Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome, Inborn genetic diseases, Seckel syndrome 1 | Likely benign (Feb 8, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:142172072
- GRCh38:
- Chr3:142453230
| ATR | | Inborn genetic diseases | Likely benign (Jul 11, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr3:142172073
- GRCh38:
- Chr3:142453231
| ATR | V2489D, V2553D | not provided, Inborn genetic diseases, Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome, Seckel syndrome 1 | Uncertain significance (Feb 8, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:142172083
- GRCh38:
- Chr3:142453241
| ATR | | not provided | Likely benign (Mar 25, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr3:142172084
- GRCh38:
- Chr3:142453242
| ATR | | not provided | Likely benign (Sep 16, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr3:142172084
- GRCh38:
- Chr3:142453242
| ATR | | not provided | Likely benign (Nov 1, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr3:142172089-142172090
- GRCh38:
- Chr3:142453247-142453248
| ATR | | not provided | Likely benign (Jan 18, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr3:142172410
- GRCh38:
- Chr3:142453568
| ATR | | not provided | Benign (Jul 31, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr3:142176277
- GRCh38:
- Chr3:142457435
| ATR | | not provided | Benign (Jun 16, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr3:142176431
- GRCh38:
- Chr3:142457589
| ATR | | not provided | Likely benign (Apr 18, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr3:142176435
- GRCh38:
- Chr3:142457593
| ATR | | not provided | Likely benign (Mar 14, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr3:142176462
- GRCh38:
- Chr3:142457620
| ATR | R2483G, R2547G | Inborn genetic diseases | Uncertain significance (Oct 6, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr3:142176466
- GRCh38:
- Chr3:142457624
| ATR | | Inborn genetic diseases | Likely benign (Jul 17, 2019) | criteria provided, single submitter |