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Items: 1 to 100 of 2852

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review status
1.
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 casesPathogenic
(Mar 18, 2014)
no assertion criteria provided
2.
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 casesPathogenic
(Jan 5, 2011)
no assertion criteria provided
3.
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 casesPathogenic
(Dec 22, 2010)
no assertion criteria provided
4.
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 casesPathogenic
(Jul 18, 2014)
no assertion criteria provided
5.
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 casesPathogenic
(Jan 31, 2012)
no assertion criteria provided
6.
GRCh37:
Chr3:134946293-145588557
GRCh38:
Chr3:135227451-145870770
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
7.
GRCh37:
Chr3:137650842-144187581
GRCh38:
Chr3:137932000-144468739
See casesPathogenic
(Jul 30, 2010)
no assertion criteria provided
8.
GRCh37:
Chr3:137709965-143337628
GRCh38:
Chr3:137991123-143618786
See casesPathogenic
(May 14, 2012)
no assertion criteria provided
9.
GRCh37:
Chr3:141470802-147963976
GRCh38:
Chr3:141751960-148246189
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
10.
GRCh37:
Chr3:142167976
GRCh38:
Chr3:142449134
ATRnot providedBenign
(Jun 16, 2018)
criteria provided, single submitter
11.
GRCh37:
Chr3:142168169
GRCh38:
Chr3:142449327
ATRSeckel syndrome 1Uncertain significance
(Jan 12, 2018)
criteria provided, single submitter
12.
GRCh37:
Chr3:142168199
GRCh38:
Chr3:142449357
ATRSeckel syndrome 1Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
13.
GRCh37:
Chr3:142168275
GRCh38:
Chr3:142449433
ATRM2580T, M2644TInborn genetic diseasesUncertain significance
(Aug 24, 2022)
criteria provided, single submitter
14.
GRCh37:
Chr3:142168280
GRCh38:
Chr3:142449438
ATRInborn genetic diseasesLikely benign
(Oct 15, 2022)
criteria provided, single submitter
15.
GRCh37:
Chr3:142168282
GRCh38:
Chr3:142449440
ATRP2578A, P2642AInborn genetic diseases, not providedUncertain significance
(Jul 19, 2022)
criteria provided, multiple submitters, no conflicts
16.
GRCh37:
Chr3:142168284
GRCh38:
Chr3:142449442
ATRT2577I, T2641Inot providedUncertain significance
(Jan 2, 2022)
criteria provided, single submitter
17.
GRCh37:
Chr3:142168293
GRCh38:
Chr3:142449451
ATRL2574P, L2638PInborn genetic diseasesUncertain significance
(Mar 31, 2023)
criteria provided, single submitter
18.
GRCh37:
Chr3:142168300
GRCh38:
Chr3:142449458
ATRM2636L, M2572LInborn genetic diseasesUncertain significance
(Jan 25, 2023)
criteria provided, single submitter
19.
GRCh37:
Chr3:142168304
GRCh38:
Chr3:142449462
ATRInborn 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
20.
GRCh37:
Chr3:142168307
GRCh38:
Chr3:142449465
ATRInborn 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
21.
GRCh37:
Chr3:142168312
GRCh38:
Chr3:142449470
ATRL2568V, L2632VInborn genetic diseasesUncertain significance
(Dec 15, 2021)
criteria provided, single submitter
22.
GRCh37:
Chr3:142168312
GRCh38:
Chr3:142449470
ATRInborn genetic diseasesLikely benign
(Jun 18, 2022)
criteria provided, single submitter
23.
GRCh37:
Chr3:142168313
GRCh38:
Chr3:142449471
ATRN2567K, N2631KInborn genetic diseasesUncertain significance
(May 5, 2023)
criteria provided, single submitter
24.
GRCh37:
Chr3:142168316
GRCh38:
Chr3:142449474
ATRInborn genetic diseasesLikely benign
(Dec 4, 2020)
criteria provided, single submitter
25.
GRCh37:
Chr3:142168321
GRCh38:
Chr3:142449479
ATRD2565H, D2629HInborn genetic diseasesUncertain significance
(Jun 10, 2022)
criteria provided, single submitter
26.
GRCh37:
Chr3:142168321
GRCh38:
Chr3:142449479
ATRD2629N, D2565NInborn genetic diseasesUncertain significance
(May 7, 2022)
criteria provided, single submitter
27.
GRCh37:
Chr3:142168322
GRCh38:
Chr3:142449480
ATRInborn genetic diseasesLikely benign
(Dec 18, 2022)
criteria provided, single submitter
28.
GRCh37:
Chr3:142168331
GRCh38:
Chr3:142449489
ATRnot 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
29.
GRCh37:
Chr3:142168342
GRCh38:
Chr3:142449500
ATRY2558H, Y2622HInborn 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
30.
GRCh37:
Chr3:142168343
GRCh38:
Chr3:142449501
ATRnot 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
31.
GRCh37:
Chr3:142168345
GRCh38:
Chr3:142449503
ATRH2621Y, H2557YInborn genetic diseasesUncertain significance
(Sep 30, 2021)
criteria provided, single submitter
32.
GRCh37:
Chr3:142168347
GRCh38:
Chr3:142449505
ATRV2556A, V2620Anot specifiedUncertain significance
(Dec 5, 2019)
criteria provided, single submitter
33.
GRCh37:
Chr3:142168348
GRCh38:
Chr3:142449506
ATRV2620M, V2556Mnot providedUncertain significance
(Aug 27, 2021)
criteria provided, single submitter
34.
GRCh37:
Chr3:142168367
GRCh38:
Chr3:142449525
ATRnot 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
35.
GRCh37:
Chr3:142168377
GRCh38:
Chr3:142449535
ATRT2546R, T2610RInborn genetic diseasesUncertain significance
(Jun 15, 2021)
criteria provided, single submitter
36.
GRCh37:
Chr3:142168383-142168384
GRCh38:
Chr3:142449541-142449542
ATRR2544fs, R2608fsnot providedUncertain significance
(Aug 14, 2022)
criteria provided, single submitter
37.
GRCh37:
Chr3:142168383
GRCh38:
Chr3:142449541
ATRR2608K, R2544KInborn genetic diseasesUncertain significance
(Sep 19, 2022)
criteria provided, single submitter
38.
GRCh37:
Chr3:142168389
GRCh38:
Chr3:142449547
ATRR2542Q, R2606Qnot 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
39.
GRCh37:
Chr3:142168398
GRCh38:
Chr3:142449556
ATRI2539T, I2603TInborn genetic diseasesUncertain significance
(Feb 3, 2023)
criteria provided, single submitter
40.
GRCh37:
Chr3:142168404
GRCh38:
Chr3:142449562
ATRG2601D, G2537Dnot providedUncertain significance
(Aug 26, 2021)
criteria provided, single submitter
41.
GRCh37:
Chr3:142168406
GRCh38:
Chr3:142449564
ATRSeckel 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
42.
GRCh37:
Chr3:142168413
GRCh38:
Chr3:142449571
ATRR2534L, R2598LInborn genetic diseasesUncertain significance
(Aug 7, 2022)
criteria provided, single submitter
43.
GRCh37:
Chr3:142168414
GRCh38:
Chr3:142449572
ATRR2598*, R2534*not providedUncertain significance
(Feb 7, 2022)
criteria provided, single submitter
44.
GRCh37:
Chr3:142168415
GRCh38:
Chr3:142449573
ATRInborn 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
45.
GRCh37:
Chr3:142168420
GRCh38:
Chr3:142449578
ATRE2532K, E2596KInborn genetic diseasesUncertain significance
(Sep 7, 2021)
criteria provided, single submitter
46.
GRCh37:
Chr3:142168424
GRCh38:
Chr3:142449582
ATRInborn genetic diseasesLikely benign
(Oct 27, 2022)
criteria provided, single submitter
47.
GRCh37:
Chr3:142168426
GRCh38:
Chr3:142449584
ATRD2594H, D2530Hnot 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
48.
GRCh37:
Chr3:142168433
GRCh38:
Chr3:142449591
ATRInborn genetic diseases, not providedLikely benign
(Feb 10, 2023)
criteria provided, multiple submitters, no conflicts
49.
GRCh37:
Chr3:142168435
GRCh38:
Chr3:142449593
ATRH2527Y, H2591YInborn genetic diseasesUncertain significance
(Jun 14, 2023)
criteria provided, single submitter
50.
GRCh37:
Chr3:142168436
GRCh38:
Chr3:142449594
ATRInborn genetic diseasesLikely benign
(May 1, 2021)
criteria provided, single submitter
51.
GRCh37:
Chr3:142168436
GRCh38:
Chr3:142449594
ATRSeckel 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
52.
GRCh37:
Chr3:142168437
GRCh38:
Chr3:142449595
ATRT2526I, T2590IInborn genetic diseasesUncertain significance
(Mar 3, 2023)
criteria provided, single submitter
53.
GRCh37:
Chr3:142168460
GRCh38:
Chr3:142449618
ATRnot providedLikely benign
(Apr 19, 2021)
criteria provided, single submitter
54.
GRCh37:
Chr3:142168462
GRCh38:
Chr3:142449620
ATRnot providedLikely benign
(Oct 4, 2022)
criteria provided, single submitter
55.
GRCh37:
Chr3:142168618
GRCh38:
Chr3:142449776
ATRnot providedBenign
(Jun 16, 2018)
criteria provided, single submitter
56.
GRCh37:
Chr3:142168652
GRCh38:
Chr3:142449810
ATRHereditary cancer-predisposing syndromeLikely benign
(Dec 1, 2015)
no assertion criteria provided
57.
GRCh37:
Chr3:142168653
GRCh38:
Chr3:142449811
ATRHereditary cancer-predisposing syndromeLikely benign
(Dec 1, 2015)
no assertion criteria provided
58.
GRCh37:
Chr3:142168883
GRCh38:
Chr3:142450041
ATRHereditary cancer-predisposing syndromeLikely benign
(Dec 1, 2015)
no assertion criteria provided
59.
GRCh37:
Chr3:142169168
GRCh38:
Chr3:142450326
ATRHereditary cancer-predisposing syndromeLikely benign
(Dec 1, 2015)
no assertion criteria provided
60.
GRCh37:
Chr3:142171595
GRCh38:
Chr3:142452753
ATRHereditary cancer-predisposing syndromeLikely benign
(Dec 1, 2015)
no assertion criteria provided
61.
GRCh37:
Chr3:142171691
GRCh38:
Chr3:142452849
ATRnot providedLikely benign
(Apr 26, 2019)
criteria provided, single submitter
62.
GRCh37:
Chr3:142171968
GRCh38:
Chr3:142453126
ATRnot providedLikely pathogenic
(Feb 1, 2019)
criteria provided, single submitter
63.
GRCh37:
Chr3:142171979
GRCh38:
Chr3:142453137
ATRInborn genetic diseasesLikely benign
(Nov 23, 2022)
criteria provided, single submitter
64.
GRCh37:
Chr3:142171983
GRCh38:
Chr3:142453141
ATRV2583A, V2519AInborn genetic diseasesUncertain significance
(Sep 20, 2021)
criteria provided, single submitter
65.
GRCh37:
Chr3:142171985
GRCh38:
Chr3:142453143
ATRInborn genetic diseasesLikely benign
(Mar 23, 2022)
criteria provided, single submitter
66.
GRCh37:
Chr3:142171988
GRCh38:
Chr3:142453146
ATRInborn genetic diseasesLikely benign
(Aug 21, 2020)
criteria provided, single submitter
67.
GRCh37:
Chr3:142171997
GRCh38:
Chr3:142453155
ATRN2578K, N2514KInborn genetic diseasesUncertain significance
(Feb 23, 2023)
criteria provided, single submitter
68.
GRCh37:
Chr3:142171999
GRCh38:
Chr3:142453157
ATRN2514Y, N2578YInborn 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
69.
GRCh37:
Chr3:142172002
GRCh38:
Chr3:142453160
ATRInborn genetic diseasesLikely benign
(Mar 1, 2021)
criteria provided, single submitter
70.
GRCh37:
Chr3:142172003
GRCh38:
Chr3:142453161
ATRInborn 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
71.
GRCh37:
Chr3:142172005
GRCh38:
Chr3:142453163
ATRP2576S, P2512SInborn genetic diseasesUncertain significance
(Oct 30, 2021)
criteria provided, single submitter
72.
GRCh37:
Chr3:142172006
GRCh38:
Chr3:142453164
ATRInborn genetic diseasesLikely benign
(Nov 11, 2019)
criteria provided, single submitter
73.
GRCh37:
Chr3:142172006
GRCh38:
Chr3:142453164
ATRnot provided, Inborn genetic diseases, Seckel syndrome 1
Conflicting interpretations of pathogenicity
(Sep 1, 2022)
criteria provided, conflicting interpretations
74.
GRCh37:
Chr3:142172007
GRCh38:
Chr3:142453165
ATRA2575E, A2511EInborn genetic diseasesUncertain significance
(Dec 20, 2021)
criteria provided, single submitter
75.
GRCh37:
Chr3:142172007
GRCh38:
Chr3:142453165
ATRA2511V, A2575Vnot providedUncertain significance
(Nov 1, 2022)
criteria provided, single submitter
76.
GRCh37:
Chr3:142172021
GRCh38:
Chr3:142453179
ATRInborn genetic diseasesLikely benign
(Apr 9, 2022)
criteria provided, single submitter
77.
GRCh37:
Chr3:142172022
GRCh38:
Chr3:142453180
ATRK2506R, K2570RInborn genetic diseasesUncertain significance
(Sep 2, 2021)
criteria provided, single submitter
78.
GRCh37:
Chr3:142172024
GRCh38:
Chr3:142453182
ATRInborn genetic diseasesLikely benign
(Nov 26, 2022)
criteria provided, single submitter
79.
GRCh37:
Chr3:142172024
GRCh38:
Chr3:142453182
ATRInborn genetic diseasesLikely benign
(Sep 27, 2019)
criteria provided, single submitter
80.
GRCh37:
Chr3:142172026
GRCh38:
Chr3:142453184
ATRV2505M, V2569MInborn genetic diseasesUncertain significance
(Feb 5, 2022)
criteria provided, single submitter
81.
GRCh37:
Chr3:142172029
GRCh38:
Chr3:142453187
ATRP2504S, P2568SInborn genetic diseasesUncertain significance
(Jan 12, 2023)
criteria provided, single submitter
82.
GRCh37:
Chr3:142172039
GRCh38:
Chr3:142453197
ATRE2500D, E2564DInborn genetic diseasesUncertain significance
(Dec 10, 2021)
criteria provided, single submitter
83.
GRCh37:
Chr3:142172039
GRCh38:
Chr3:142453197
ATRInborn genetic diseasesLikely benign
(Jun 13, 2022)
criteria provided, single submitter
84.
GRCh37:
Chr3:142172042
GRCh38:
Chr3:142453200
ATRnot providedUncertain significance
(Aug 27, 2021)
criteria provided, single submitter
85.
GRCh37:
Chr3:142172062
GRCh38:
Chr3:142453220
ATRF2493L, F2557LInborn genetic diseasesUncertain significance
(Sep 20, 2021)
criteria provided, single submitter
86.
GRCh37:
Chr3:142172064
GRCh38:
Chr3:142453222
ATRT2556S, T2492Snot provided, Seckel syndrome 1Conflicting interpretations of pathogenicity
(Sep 23, 2022)
criteria provided, conflicting interpretations
87.
GRCh37:
Chr3:142172066
GRCh38:
Chr3:142453224
ATRnot providedLikely benign
(Jan 12, 2022)
criteria provided, single submitter
88.
GRCh37:
Chr3:142172069
GRCh38:
Chr3:142453227
ATRnot 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
89.
GRCh37:
Chr3:142172072
GRCh38:
Chr3:142453230
ATRInborn genetic diseasesLikely benign
(Jul 11, 2022)
criteria provided, single submitter
90.
GRCh37:
Chr3:142172073
GRCh38:
Chr3:142453231
ATRV2489D, V2553Dnot 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
91.
GRCh37:
Chr3:142172083
GRCh38:
Chr3:142453241
ATRnot providedLikely benign
(Mar 25, 2022)
criteria provided, single submitter
92.
GRCh37:
Chr3:142172084
GRCh38:
Chr3:142453242
ATRnot providedLikely benign
(Sep 16, 2022)
criteria provided, single submitter
93.
GRCh37:
Chr3:142172084
GRCh38:
Chr3:142453242
ATRnot providedLikely benign
(Nov 1, 2022)
criteria provided, single submitter
94.
GRCh37:
Chr3:142172089-142172090
GRCh38:
Chr3:142453247-142453248
ATRnot providedLikely benign
(Jan 18, 2022)
criteria provided, single submitter
95.
GRCh37:
Chr3:142172410
GRCh38:
Chr3:142453568
ATRnot providedBenign
(Jul 31, 2018)
criteria provided, single submitter
96.
GRCh37:
Chr3:142176277
GRCh38:
Chr3:142457435
ATRnot providedBenign
(Jun 16, 2018)
criteria provided, single submitter
97.
GRCh37:
Chr3:142176431
GRCh38:
Chr3:142457589
ATRnot providedLikely benign
(Apr 18, 2022)
criteria provided, single submitter
98.
GRCh37:
Chr3:142176435
GRCh38:
Chr3:142457593
ATRnot providedLikely benign
(Mar 14, 2022)
criteria provided, single submitter
99.
GRCh37:
Chr3:142176462
GRCh38:
Chr3:142457620
ATRR2483G, R2547GInborn genetic diseasesUncertain significance
(Oct 6, 2021)
criteria provided, single submitter
100.
GRCh37:
Chr3:142176466
GRCh38:
Chr3:142457624
ATRInborn genetic diseasesLikely benign
(Jul 17, 2019)
criteria provided, single submitter
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