| - GRCh37:
- Chr3:103145726-197837049
- GRCh38:
- Chr3:103426882-198110178
| A4GNT, AADAC, AADACL2, AADACL2-AS1, ABCC5, ABCC5-AS1, ABCF3, ABHD10, ABTB1, ACAD11, ACAD9, ACAD9-DT, ACAP2, ACKR4, ACP3, ACTL6A, ACTRT3, ADCY5, ADIPOQ, ADIPOQ-AS1, ADPRH, AGTR1, AHSG, ALCAM, ALDH1L1, ALDH1L1-AS1, ALDH1L1-AS2, ALG1L2, ALG3, AMOTL2, ANAPC13, ANKUB1, AP2M1, APOD, ARGFX, ARHGAP31, ARHGAP31-AS1, ARHGEF26, ARHGEF26-AS1, ARL14, ARMC8, ASTE1, ATG3, ATP11B, ATP11B-DT, ATP13A3, ATP13A3-DT, ATP13A4, ATP13A4-AS1, ATP13A5, ATP13A5-AS1, ATP1B3, ATP2C1, ATP6V1A, ATR, B3GALNT1, B3GNT5, B4GALT4, B4GALT4-AS1, BBX, BCHE, BCL6, BDH1, BFSP2, BFSP2-AS1, BOC, BPESC1, BTLA, C3orf22, C3orf33, C3orf36, C3orf52, C3orf70, C3orf80, C3orf85, CAMK2N2, CASR, CBLB, CCDC14, CCDC191, CCDC39, CCDC50, CCDC54, CCDC54-AS1, CCDC80, CCNL1, CD200, CD200R1, CD200R1L, CD200R1L-AS1, CD47, CD80, CD86, CD96, CDV3, CEP19, CEP63, CEP70, CFAP100, CFAP100-DT, CFAP44, CFAP44-AS1, CFAP91, CFAP92, CHCHD6, CHRD, CHST13, CHST2, CIP2A, CLCN2, CLDN1, CLDN11, CLDN16, CLDN18, CLRN1, CLRN1-AS1, CLSTN2, CLSTN2-AS1, CNBP, COL6A5, COL6A6, COMMD2, COPB2, COPB2-DT, COPG1, COX17, CP, CPA3, CPB1, CPN2, CPNE4, CRYGS, CSTA, DBR1, DCUN1D1, DGKG, DHX36, DIPK2A, DLG1, DLG1-AS1, DNAJB11, DNAJB8, DNAJB8-AS1, DNAJC13, DNAJC19, DPPA2, DPPA4, DRD3, DTX3L, DUBR, DVL3, DYNLT2B, DZIP1L, DZIP3, EAF2, ECE2, ECT2, EEF1AKMT4, EEF1AKMT4-ECE2, EEFSEC, EFCAB12, EFCC1, EHHADH, EHHADH-AS1, EIF2A, EIF2B5, EIF2B5-DT, EIF4A2, EIF4G1, EIF5A2, EPHB1, EPHB3, ERICH6, ERICH6-AS1, ESYT3, ETV5, FAIM, FAM131A, FAM162A, FAM43A, FBXO40, FBXO45, FETUB, FGF12, FGF12-AS1, FGF12-AS2, FGF12-AS3, FLJ42393, FNDC3B, FOXL2, FOXL2NB, FSTL1, FXR1, FYTTD1, GAP43, GATA2, GATA2-AS1, GCSAM, GFM1, GHSR, GK5, GMNC, GMPS, GNB4, GOLGB1, GOLIM4, GP5, GP9, GPR149, GPR156, GPR160, GPR171, GPR87, GRAMD1C, GRK7, GSK3B, GTF2E1, GTPBP8, GUCA1C, GYG1, H1-10, H1-10-AS1, H1-8, HACD2, HCLS1, HEG1, HES1, HGD, HHLA2, HLTF, HLTF-AS1, HMCES, HPS3, HRG, HRG-AS1, HSPBAP1, HTR3C, HTR3D, HTR3E, HTR3E-AS1, IFT122, IFT57, IFT80, IGF2BP2, IGF2BP2-AS1, IGSF10, IGSF11, IGSF11-AS1, IL12A, IL12A-AS1, IL1RAP, IL20RB, IL20RB-AS1, ILDR1, IQCB1, IQCG, IQCJ, IQCJ-SCHIP1, IQCJ-SCHIP1-AS1, ISY1, ISY1-RAB43, ITGB5, KALRN, KBTBD12, KCNAB1, KCNAB1-AS1, KCNAB1-AS2, KCNMB2, KCNMB2-AS1, KCNMB3, KLF15, KLHL24, KLHL6, KLHL6-AS1, KNG1, KPNA1, KPNA4, KY, LAMP3, LEKR1, LINC00488, LINC00501, LINC00578, LINC00635, LINC00636, LINC00880, LINC00881, LINC00882, LINC00885, LINC00886, LINC00887, LINC00901, LINC00903, LINC01014, LINC01063, LINC01100, LINC01192, LINC01205, LINC01206, LINC01208, LINC01209, LINC01210, LINC01213, LINC01214, LINC01215, LINC01279, LINC01322, LINC01324, LINC01327, LINC01391, LINC01471, LINC01487, LINC01565, LINC01839, LINC01840, LINC01968, LINC01972, LINC01983, LINC01990, LINC01991, LINC01994, LINC01995, LINC01997, LINC01998, LINC02000, LINC02004, LINC02006, LINC02010, LINC02012, LINC02013, LINC02014, LINC02015, LINC02016, LINC02020, LINC02021, LINC02023, LINC02024, LINC02026, LINC02028, LINC02029, LINC02031, LINC02032, LINC02035, LINC02036, LINC02037, LINC02038, LINC02041, LINC02042, LINC02043, LINC02044, LINC02045, LINC02046, LINC02048, LINC02049, LINC02052, LINC02053, LINC02054, LINC02066, LINC02067, LINC02068, LINC02069, LINC02082, LINC02614, LINC02618, LINC02877, LINC03051, LIPH, LMLN, LMLN-AS1, LNCSRLR, LOC100131635, LOC100287290, LOC100289361, LOC100507389, LOC101926968, LOC101928105, LOC101928166, LOC101928882, LOC101929106, LOC101929130, LOC102724604, LOC105374042, LOC105374060, LOC105374194, LOC108004532, LOC108192211, LOC105374297, LOC105374312, LOC105374313, LOC106660625, LOC107133517, LOC107986163, LOC108004531, LOC108281117, LOC108281160, LOC108281177, LOC108281178, LOC108449887, LOC108644431, LOC110120606, LOC110120612, LOC110120613, LOC110120614, LOC110120615, LOC110120631, LOC110120632, LOC110120723, LOC110120724, LOC110120732, LOC110120733, LOC110120734, LOC110120755, LOC110120785, LOC110120973, LOC110120993, LOC110121014, LOC110121026, LOC110121033, LOC110121064, LOC110121069, LOC110121092, LOC110121102, LOC110121110, LOC110121137, LOC110121144, LOC110121146, LOC110121175, LOC110121187, LOC110121239, LOC110121244, LOC110806306, LOC111162620, LOC111162621, LOC111242783, LOC111242785, LOC111255649, LOC111365173, LOC111365195, LOC111365202, LOC111413008, LOC111464993, LOC111556160, LOC111562374, LOC111828514, LOC111828515, LOC112268458, LOC112848341, LOC112848343, LOC112848344, LOC112872290, LOC112872291, LOC112872292, LOC112872293, LOC112872294, LOC112872295, LOC112872296, LOC112872297, LOC112872298, LOC112872299, LOC112872300, LOC112872301, LOC112872302, LOC112872303, LOC112872304, LOC112903835, LOC112903836, LOC112903837, LOC112903838, LOC112903839, LOC112903840, LOC112903842, LOC112935896, LOC112935897, LOC112935898, LOC112935899, LOC112935900, LOC112935901, LOC112935904, LOC112935905, LOC112935906, LOC112935907, LOC112935908, LOC112935909, LOC112935910, LOC112935911, LOC112935912, LOC112935913, LOC112935914, LOC112935917, LOC112935918, LOC112935919, LOC112935920, LOC112935921, LOC112935922, LOC112935923, LOC112935924, LOC112935925, LOC112935926, LOC114004375, LOC114004376, LOC114004377, LOC114827819, LOC114827824, LOC114827826, LOC114827843, LOC115995516, LOC115995517, LOC115995518, LOC115995519, LOC115995520, LOC115995521, LOC115995522, LOC115995523, LOC115995524, LOC115995525, LOC115995526, LOC115995527, LOC115995528, LOC115995529, LOC115995530, LOC115995531, LOC115995532, LOC115995533, LOC115995534, LOC115995535, LOC115995536, LOC115995537, LOC115995538, LOC117011629, LOC117038769, LOC117038770, LOC117038771, LOC117038772, LOC117038773, LOC117038774, LOC121009683, LOC121009684, LOC121009685, LOC121045485, LOC121045486, LOC121048709, LOC121048710, LOC121048711, LOC121048712, LOC121048713, LOC121048714, LOC121048715, LOC121048716, LOC121048717, LOC121048718, LOC121048719, LOC121048720, LOC121048721, LOC121048722, LOC121048723, LOC121048724, LOC121048725, LOC121048726, LOC121048727, LOC121048728, LOC121048729, LOC121048730, LOC121048731, LOC121048732, LOC121048733, LOC121048734, LOC121048735, LOC121048736, LOC121725153, LOC121725154, LOC121725155, LOC121725156, LOC121725157, LOC121725158, LOC121725159, LOC121725160, LOC121725161, LOC121725162, LOC121725163, LOC121725164, LOC121725165, LOC121725166, LOC121725167, LOC122526776, LOC123002325, LOC123002326, LOC123002327, LOC123002328, LOC123002329, LOC123002330, LOC123002331, LOC123038158, LOC123038159, LOC123038160, LOC123038161, LOC123038162, LOC123038163, LOC123038164, LOC123038165, LOC123038166, LOC123038167, LOC123038168, LOC123038169, LOC123038170, LOC123038171, LOC123038172, LOC123038173, LOC123038174, LOC123038175, LOC123038176, LOC123038177, LOC123038178, LOC123038179, LOC123038180, LOC123038181, LOC123038182, LOC123038183, LOC123038184, LOC123038185, LOC123038186, LOC123038187, LOC123038188, LOC123038189, LOC123038190, LOC123038191, LOC123038192, LOC123038193, LOC123038194, LOC123038195, LOC123192011, LOC123192012, LOC123192013, LOC123192014, LOC123192015, LOC123192016, LOC123192017, LOC123192018, LOC123192019, LOC123192020, LOC123192021, LOC123230394, LOC123230395, LOC123230396, LOC123230397, LOC123230398, LOC123230399, LOC123230400, LOC123230401, LOC123230402, LOC123230405, LOC123230406, LOC123230407, LOC123230408, LOC123230409, LOC123230410, LOC123230411, LOC123230412, LOC123230413, LOC123230414, LOC123230415, LOC123256940, LOC123256941, LOC123256942, LOC123256943, LOC123256944, LOC123256945, LOC123256946, LOC123256947, LOC123256948, LOC123256949, LOC123256950, LOC123256951, LOC123256952, LOC123256953, LOC123256954, LOC123256955, LOC123453198, LOC123453199, LOC123453200, LOC123453201, LOC123453202, LOC123453203, LOC123464470, LOC123464471, LOC123464472, LOC123464473, LOC123464474, LOC123464476, LOC123464477, LOC123464478, LOC123464479, LOC123464480, LOC123464481, LOC123464482, LOC123464483, LOC123464484, LOC123464485, LOC123464486, LOC123464487, LOC123464488, LOC123464489, LOC123464490, LOC123464491, LOC123464492, LOC123464493, LOC123464494, LOC123464495, LOC123464496, LOC123464497, LOC123464498, LOC123464499, LOC123464500, LOC123464501, LOC123464502, LOC123464503, LOC123464504, LOC123464505, LOC123464506, LOC124909494, LOC126806755, LOC126806756, LOC126806757, LOC126806758, LOC126806759, LOC126806760, LOC126806761, LOC126806762, LOC126806763, LOC126806764, LOC126806765, LOC126806766, LOC126806767, LOC126806768, LOC126806769, LOC126806770, LOC126806771, LOC126806772, LOC126806773, LOC126806774, LOC126806775, LOC126806776, LOC126806777, LOC126806778, LOC126806779, LOC126806780, LOC126806781, LOC126806782, LOC126806783, LOC126806784, LOC126806785, LOC126806786, LOC126806787, LOC126806788, LOC126806789, LOC126806790, LOC126806791, LOC126806792, LOC126806793, LOC126806794, LOC126806795, LOC126806796, LOC126806797, LOC126806798, LOC126806799, LOC126806800, LOC126806801, LOC126806802, LOC126806803, LOC126806804, LOC126806805, LOC126806806, LOC126806807, LOC126806808, LOC126806809, LOC126806810, LOC126806811, LOC126806812, LOC126806813, LOC126806814, LOC126806815, LOC126806816, LOC126806817, LOC126806818, LOC126806819, LOC126806820, LOC126806821, LOC126806822, LOC126806823, LOC126806824, LOC126806825, LOC126806826, LOC126806827, LOC126806828, LOC126806829, LOC126806830, LOC126806831, LOC126806832, LOC126806833, LOC126806834, LOC126806835, LOC126806836, LOC126806837, LOC126806838, LOC126806839, LOC126806840, LOC126806841, LOC126806842, LOC126806843, LOC126806844, LOC126806845, LOC126806846, LOC126806847, LOC126806848, LOC126806849, LOC126806850, LOC126806851, LOC126806852, LOC126806853, LOC126806854, LOC126806855, LOC126806856, LOC126806857, LOC126806858, LOC126806859, LOC126806860, LOC126806861, LOC126806862, LOC126806863, LOC126806864, LOC126806865, LOC126806866, LOC126806867, LOC126806868, LOC126806869, LOC126806870, LOC126806871, LOC126806872, LOC126806873, LOC126806874, LOC126806875, LOC126806876, LOC126806877, LOC126806878, LOC126806879, LOC126806880, LOC126806881, LOC126806882, LOC126806883, LOC126806884, LOC126806885, LOC126806886, LOC126806887, LOC126806888, LOC126806889, LOC126806890, LOC126806891, LOC126806892, LOC126806893, LOC126806894, LOC126806895, LOC126806896, LOC126806897, LOC126806898, LOC126806899, LOC126806900, LOC126806901, LOC126806902, LOC126806903, LOC126806904, LOC126806905, LOC126806906, LOC126806907, LOC126806908, LOC126806909, LOC126806910, LOC126806911, LOC126806912, LOC126806913, LOC126806914, LOC126806915, LOC126806916, LOC126806917, LOC126806918, LOC126806919, LOC126806920, LOC126806921, LOC126806922, LOC126806923, LOC126806924, LOC126806925, LOC126806926, LOC126806927, LOC126806928, LOC126806929, LOC126806930, LOC126806931, LOC126806932, LOC126806933, LOC126806934, LOC126806935, LOC126806936, LOC126806937, LOC126806938, LOC127898559, LOC128772257, LOC128772258, LOC128772259, LOC128772260, LOC128772261, LOC440982, LOC646903, LOC90246, LPP, LPP-AS1, LPP-AS2, LRCH3, LRRC15, LRRC31, LRRC34, LRRC58, LRRC58-DT, LRRIQ4, LSAMP, LSAMP-AS1, LSG1, LXN, MAGEF1, MAP3K13, MAP6D1, MASP1, MB21D2, MBD4, MBNL1, MBNL1-AS1, MCCC1, MCF2L2, MCM2, MECOM, MECOM-AS1, MED12L, MELTF, MELTF-AS1, MFN1, MFSD1, MGC2889, MGLL, MINDY4B, MIR12124, MIR1224, MIR1248, MIR1263, MIR15B, MIR16-2, MIR198, MIR28, MIR3137, MIR3919, MIR4445, MIR4446, MIR4447, MIR4448, MIR4788, MIR4789, MIR4796, MIR4797, MIR5002, MIR5092, MIR5186, MIR544B, MIR548AB, MIR548AQ, MIR548I1, MIR551B, MIR5588, MIR567, MIR568, MIR5682, MIR569, MIR570, MIR5704, MIR6829, MIR7110, MIR570HG, MIR6083, MIR6529, MIR6825, MIR6826, MIR6827, MIR6828, MIR7976, MIR7977, MIR8076, MIR922, MIR944, MIR9900, MIX23, MLF1, MLF1-DT, MME, MORC1, MORC1-AS1, MRAS, MRPL3, MRPL47, MRPS22, MSL2, MUC13, MUC20, MUC4, MYH15, MYLK, MYLK-AS1, MYLK-AS2, MYNN, NAA50, NAALADL2, NAALADL2-AS1, NAALADL2-AS2, NAALADL2-AS3, NCBP2, NCBP2-AS1, NCBP2AS2, NCEH1, NCK1, NCK1-DT, NDUFB4, NDUFB5, NECTIN3, NECTIN3-AS1, NEK11, NEPRO, NLGN1, NLGN1-AS1, NMD3, NME9, NMNAT3, NPHP3, NPHP3-ACAD11, NPHP3-AS1, NR1I2, NRROS, NUDT16, NUDT16-DT, OPA1, OPA1-AS1, OSBPL11, OSTN, OSTN-AS1, OTOL1, P2RY1, P2RY12, P2RY13, P2RY14, P3H2, P3H2-AS1, PAK2, PAQR9, PAQR9-AS1, PARL, PARP14, PARP15, PARP9, PCCB, PCOLCE2, PCYT1A, PDCD10, PDIA5, PEX5L, PEX5L-AS2, PFN2, PHC3, PHLDB2, PIGX, PIGZ, PIK3CA, PIK3CA-DT, PIK3CB, PIK3R4, PISRT1, PLA1A, PLAAT1, PLCH1, PLCH1-AS1, PLCH1-AS2, PLCXD2, PLCXD2-AS1, PLD1, PLOD2, PLS1, PLSCR1, PLSCR2, PLSCR4, PLSCR5, PLXNA1, PLXND1, PODXL2, POGLUT1, POLQ, POLR2H, POPDC2, PPM1L, PPP1R2, PPP2R3A, PRKCI, PRR20G, PRR23A, PRR23B, PRR23C, PRR23E, PSMD2, PTX3, PXYLP1, PYDC2, PYDC2-AS1, QTRT2, RAB43, RAB6B, RAB7A, RABL3, RAP2B, RARRES1, RASA2, RBP1, RBP2, RER, RETNLB, RFC4, RHO, RNF13, RNF168, RNF7, ROPN1, ROPN1B, RPL22L1, RPL35A, RPL39L, RPN1, RSRC1, RTP1, RTP2, RTP4, RUBCN, RUVBL1, RUVBL1-AS1, RYK, SAMD7, SCARNA7, SCHIP1, SEC22A, SEC61A1, SEC62, SELENOT, SEMA5B, SENP2, SENP5, SERP1, SERPINI1, SERPINI2, SHOX2, SI, SIAH2, SIAH2-AS1, SIDT1, SKIL, SLC12A8, SLC15A2, SLC25A36, SLC2A2, SLC33A1, SLC35A5, SLC35G2, SLC41A3, SLC49A4, SLC51A, SLC7A14, SLC7A14-AS1, SLC9A9, SLC9A9-AS1, SLC9C1, SLCO2A1, SLITRK3, SMC4, SMCO1, SNAR-I, SNHG33, SNORA4, SNORA58, SNORA63, SNORA63B, SNORA63D, SNORA63E, SNORA7B, SNORA81, SNORD155, SNORD2, SNORD66, SNX4, SOX14, SOX2, SOX2-OT, SPATA16, SPICE1, SPSB4, SPTSSB, SRPRB, SSR3, SST, ST6GAL1, STAG1, STRIT1, STXBP5L, SUCNR1, TAGLN3, TBCCD1, TBILA, TBL1XR1, TBL1XR1-AS1, TERC, TEX55, TF, TFDP2, TFRC, THPO, TIGIT, TIMMDC1, TIPARP, TIPARP-AS1, TM4SF1, TM4SF1-AS1, TM4SF18, TM4SF19, TM4SF19-AS1, TM4SF19-DYNLT2B, TM4SF4, TMCC1, TMCC1-DT, TMEM108, TMEM108-AS1, TMEM207, TMEM212, TMEM212-AS1, TMEM39A, TMEM41A, TMEM44, TMEM44-AS1, TMPRSS7, TNFSF10, TNIK, TNK2, TNK2-AS1, TOPBP1, TP63, TPRA1, TPRG1, TPRG1-AS1, TPRG1-AS2, TRA2B, TRAT1, TRC-GCA6-1, TRC-GCA9-1, TRH, TRIM42, TRIM59, TRIM59-IFT80, TRPC1, TRV-AAC1-1, TSC22D2, TTC14, TTC14-DT, TUSC7, TXNRD3, TXNRD3NB, U2SURP, UBA5, UBXN7, UBXN7-AS1, UC.134, UMPS, UPK1B, UROC1, USF3, USP13, UTS2B, VEPH1, VPS8, VWA5B2, WDR49, WDR53, WDR5B, WDR5B-DT, WWTR1, WWTR1-AS1, WWTR1-IT1, XRN1, XXYLT1, XXYLT1-AS1, XXYLT1-AS2, YEATS2, YEATS2-AS1, ZBBX, ZBED2, ZBTB20, ZBTB20-AS1, ZBTB20-AS3, ZBTB20-AS4, ZBTB20-AS5, ZBTB38, ZDHHC19, ZDHHC23, ZIC1, ZIC4, ZIC4-AS1, ZMAT3, ZNF148, ZNF639, ZNF80, ZXDC | | See cases | Pathogenic (Jan 5, 2011) | 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, 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:
- Chr3:147160353-178240319
- GRCh38:
- Chr3:147442566-178522531
| SCARNA7, SCHIP1, SEC62, SELENOT, SERP1, SERPINI1, SERPINI2, SHOX2, SI, SIAH2, SIAH2-AS1, SKIL, SLC2A2, SLC33A1, SLC7A14, SLC7A14-AS1, SLITRK3, SMC4, SPATA16, SPTSSB, SSR3, STRIT1, SUCNR1, TBL1XR1, TBL1XR1-AS1, TERC, TIPARP, TIPARP-AS1, TM4SF1, TM4SF1-AS1, TM4SF18, TM4SF4, TMEM212, TMEM212-AS1, TNFSF10, TNIK, TRIM59, TRIM59-IFT80, TRV-AAC1-1, TSC22D2, UC.134, VEPH1, WDR49, WWTR1, WWTR1-AS1, WWTR1-IT1, ZBBX, AADAC, AADACL2, AADACL2-AS1, ACTRT3, AGTR1, ANKUB1, ARHGEF26, ARHGEF26-AS1, ARL14, B3GALNT1, BCHE, C3orf33, C3orf80, CCNL1, CLDN11, CLRN1, CLRN1-AS1, COMMD2, CP, CPA3, CPB1, DHX36, ECT2, EIF2A, EIF5A2, ERICH6, ERICH6-AS1, FNDC3B, GFM1, GHSR, GMPS, GOLIM4, GPR149, GPR160, GPR171, GPR87, GYG1, HLTF, HLTF-AS1, HPS3, IFT80, IGSF10, IL12A, IL12A-AS1, IQCJ, IQCJ-SCHIP1, IQCJ-SCHIP1-AS1, KCNAB1, KCNAB1-AS1, KCNAB1-AS2, KPNA4, LEKR1, LINC00501, LINC00578, LINC00880, LINC00881, LINC00886, LINC01014, LINC01100, LINC01192, LINC01208, LINC01209, LINC01213, LINC01214, LINC01322, LINC01324, LINC01327, LINC01487, LINC01997, LINC01998, LINC02006, LINC02015, LINC02023, LINC02029, LINC02032, LINC02045, LINC02046, LINC02066, LINC02067, LINC02068, LINC02082, LINC02877, LOC100287290, LOC101928105, LOC101928166, LOC105374194, LOC105374313, LOC108449887, LOC110120723, LOC110120724, LOC110120733, LOC110120755, LOC110120993, LOC110121014, LOC110121026, LOC110121033, LOC110121092, LOC110121102, LOC110121146, LOC110121239, LOC110806306, LOC111365195, LOC111413008, LOC111464993, LOC112935896, LOC112935897, LOC112935898, LOC112935899, LOC112935900, LOC112935901, LOC112935904, LOC112935905, LOC112935906, LOC112935907, LOC112935908, LOC112935909, LOC112935910, LOC112935911, LOC112935912, LOC114004375, LOC114827819, LOC114827826, LOC114827843, LOC115995527, LOC115995528, LOC115995529, LOC115995530, LOC115995531, LOC115995532, LOC121048717, LOC121048718, LOC121048719, LOC121048720, LOC121048721, LOC121048722, LOC121048723, LOC121725156, LOC121725157, LOC121725158, LOC121725159, LOC121725160, LOC121725161, LOC121725162, LOC121725163, LOC121725164, LOC123192012, LOC123192013, LOC123192014, LOC123192015, LOC123192016, LOC123192017, LOC123192018, LOC123192019, LOC123192020, LOC123192021, LOC123230394, LOC123230395, LOC123230396, LOC123230397, LOC123230398, LOC123230399, LOC123230400, LOC123230401, LOC123230402, LOC123230405, LOC123230406, LOC123230407, LOC123230408, LOC123230409, LOC123230410, LOC123230411, LOC123230412, LOC123230413, LOC123230414, LOC123230415, LOC123256940, LOC123256941, LOC123256942, LOC123256943, LOC123256944, LOC123256945, LOC123256946, LOC123256947, LOC123256948, LOC123256949, LOC123256950, LOC123256951, 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, LOC128772257, LOC128772258, LOC128772259, LOC128772260, LOC128772261, LOC440982, LOC646903, LRRC31, LRRC34, LRRIQ4, LXN, MBNL1, MBNL1-AS1, MECOM, MECOM-AS1, MED12L, MFSD1, MINDY4B, MIR1263, MIR15B, MIR16-2, MIR3919, MIR4789, MIR5186, MIR551B, MIR569, MIR6828, MIR7977, MLF1, MLF1-DT, MME, MYNN, NAALADL2, NAALADL2-AS1, NAALADL2-AS2, NAALADL2-AS3, NCEH1, NLGN1, NLGN1-AS1, NMD3, OTOL1, P2RY1, P2RY12, P2RY13, P2RY14, PDCD10, PFN2, PHC3, PLCH1, PLCH1-AS1, PLCH1-AS2, PLD1, PPM1L, PRKCI, PTX3, RAP2B, RARRES1, RNF13, RPL22L1, RSRC1, SAMD7 | | See cases | Pathogenic (Aug 12, 2011) | criteria provided, single submitter |
| - GRCh37:
- Chr3:147239679-197823436
- GRCh38:
- Chr3:147521892-198096565
| AADAC, AADACL2, AADACL2-AS1, ABCC5, ABCC5-AS1, ABCF3, ACAP2, ACTL6A, ACTRT3, ADIPOQ, ADIPOQ-AS1, AGTR1, AHSG, ALG3, ANKUB1, AP2M1, APOD, ARHGEF26, ARHGEF26-AS1, ARL14, ATP11B, ATP11B-DT, ATP13A3, ATP13A3-DT, ATP13A4, ATP13A4-AS1, ATP13A5, ATP13A5-AS1, B3GALNT1, B3GNT5, BCHE, BCL6, BDH1, C3orf33, C3orf70, C3orf80, CAMK2N2, CCDC39, CCDC50, CCNL1, CEP19, CHRD, CLCN2, CLDN1, CLDN11, CLDN16, CLRN1, CLRN1-AS1, COMMD2, CP, CPA3, CPB1, CPN2, CRYGS, DCUN1D1, DGKG, DHX36, DLG1, DLG1-AS1, DNAJB11, DNAJC19, DVL3, DYNLT2B, ECE2, ECT2, EEF1AKMT4, EEF1AKMT4-ECE2, EHHADH, EHHADH-AS1, EIF2A, EIF2B5, EIF2B5-DT, EIF4A2, EIF4G1, EIF5A2, EPHB3, ERICH6, ERICH6-AS1, ETV5, FAM131A, FAM43A, FBXO45, FETUB, FGF12, FGF12-AS1, FGF12-AS2, FGF12-AS3, FLJ42393, FNDC3B, FXR1, FYTTD1, GFM1, GHSR, GMNC, GMPS, GNB4, GOLIM4, GP5, GPR149, GPR160, GPR171, GPR87, GYG1, HES1, HLTF, HLTF-AS1, HPS3, HRG, HRG-AS1, HTR3C, HTR3D, HTR3E, HTR3E-AS1, IFT80, IGF2BP2, IGF2BP2-AS1, IGSF10, IL12A, IL12A-AS1, IL1RAP, IQCG, IQCJ, IQCJ-SCHIP1, IQCJ-SCHIP1-AS1, KCNAB1, KCNAB1-AS1, KCNAB1-AS2, KCNMB2, KCNMB2-AS1, KCNMB3, KLHL24, KLHL6, KLHL6-AS1, KNG1, KPNA4, LAMP3, LEKR1, LINC00501, LINC00578, LINC00880, LINC00881, LINC00885, LINC00886, LINC00887, LINC01014, LINC01063, LINC01100, LINC01192, LINC01206, LINC01208, LINC01209, LINC01213, LINC01214, LINC01322, LINC01324, LINC01327, LINC01487, LINC01839, LINC01840, LINC01968, LINC01972, LINC01983, LINC01991, LINC01994, LINC01995, LINC01997, LINC01998, LINC02006, LINC02012, LINC02013, LINC02015, LINC02020, LINC02023, LINC02026, LINC02028, LINC02029, LINC02031, LINC02032, LINC02036, LINC02037, LINC02038, LINC02041, LINC02043, LINC02045, LINC02046, LINC02048, LINC02052, LINC02053, LINC02054, LINC02066, LINC02067, LINC02068, LINC02069, LINC02082, LINC02877, LIPH, LMLN, LMLN-AS1, LOC100131635, LOC100287290, LOC101928105, LOC101928166, LOC101928882, LOC101929106, LOC101929130, LOC102724604, LOC105374194, LOC105374297, LOC105374313, LOC106660625, LOC107133517, LOC107986163, LOC108281160, LOC108281177, LOC108281178, LOC108449887, LOC110120606, LOC110120632, LOC110120723, LOC110120724, LOC110120733, LOC110120734, LOC110120755, LOC110120993, LOC110121014, LOC110121026, LOC110121033, LOC110121064, LOC110121069, LOC110121092, LOC110121102, LOC110121110, LOC110121137, LOC110121144, LOC110121146, LOC110121239, LOC110806306, LOC111162620, LOC111162621, LOC111242783, LOC111242785, LOC111365195, LOC111413008, LOC111464993, LOC111828515, LOC112268458, LOC112935896, LOC112935897, LOC112935898, LOC112935899, LOC112935900, LOC112935901, LOC112935904, LOC112935905, LOC112935906, LOC112935907, LOC112935908, LOC112935909, LOC112935910, LOC112935911, LOC112935912, LOC112935913, LOC112935914, LOC112935917, LOC112935918, LOC112935919, LOC112935920, LOC112935921, LOC112935922, LOC112935923, LOC112935924, LOC112935925, LOC112935926, LOC114004375, LOC114004376, LOC114004377, LOC114827819, LOC114827824, LOC114827826, LOC114827843, LOC115995527, LOC115995528, LOC115995529, LOC115995530, LOC115995531, LOC115995532, LOC115995533, LOC115995534, LOC115995535, LOC115995536, LOC115995537, LOC115995538, LOC121048717, LOC121048718, LOC121048719, LOC121048720, LOC121048721, LOC121048722, LOC121048723, LOC121048724, LOC121048725, LOC121048726, LOC121048727, LOC121048728, LOC121048729, LOC121048730, LOC121048731, LOC121048732, LOC121048733, LOC121048734, LOC121048735, LOC121048736, LOC121725156, LOC121725157, LOC121725158, LOC121725159, LOC121725160, LOC121725161, LOC121725162, LOC121725163, LOC121725164, LOC121725165, LOC121725166, LOC121725167, LOC122526776, LOC123192012, LOC123192013, LOC123192014, LOC123192015, LOC123192016, LOC123192017, LOC123192018, LOC123192019, LOC123192020, LOC123192021, LOC123230394, LOC123230395, LOC123230396, LOC123230397, LOC123230398, LOC123230399, LOC123230400, LOC123230401, LOC123230402, LOC123230405, LOC123230406, LOC123230407, LOC123230408, LOC123230409, LOC123230410, LOC123230411, LOC123230412, LOC123230413, LOC123230414, LOC123230415, LOC123256940, LOC123256941, LOC123256942, LOC123256943, LOC123256944, LOC123256945, LOC123256946, LOC123256947, LOC123256948, LOC123256949, LOC123256950, LOC123256951, LOC123256952, LOC123256953, LOC123256954, LOC123256955, LOC123453198, LOC123453199, LOC123453200, LOC123453201, LOC123453202, LOC123453203, LOC123464470, LOC123464471, LOC123464472, LOC123464473, LOC123464474, LOC123464476, LOC123464477, LOC123464478, LOC123464479, LOC123464480, LOC123464481, LOC123464482, LOC123464483, LOC123464484, LOC123464485, LOC123464486, LOC123464487, LOC123464488, LOC123464489, LOC123464490, LOC123464491, LOC123464492, LOC123464493, LOC123464494, LOC123464495, LOC123464496, LOC123464497, LOC123464498, LOC123464499, LOC123464500, LOC123464501, LOC123464502, LOC123464503, LOC123464504, LOC123464505, LOC123464506, 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, LOC128772257, LOC128772258, LOC128772259, LOC128772260, LOC128772261, LOC646903, LPP, LPP-AS1, LPP-AS2, LRCH3, LRRC15, LRRC31, LRRC34, LRRIQ4, LSG1, LXN, MAGEF1, MAP3K13, MAP6D1, MASP1, MB21D2, MBNL1, MBNL1-AS1, MCCC1, MCF2L2, MECOM, MECOM-AS1, MED12L, MELTF, MELTF-AS1, MFN1, MFSD1, MGC2889, MINDY4B, MIR1224, MIR1248, MIR1263, MIR15B, MIR16-2, MIR28, MIR3137, MIR3919, MIR4448, MIR4789, MIR4797, MIR5186, MIR548AQ, MIR551B, MIR5588, MIR569, MIR570, MIR570HG, MIR6828, MIR6829, MIR7977, MIR922, MIR944, MLF1, MLF1-DT, MME, MRPL47, MUC20, MUC4, MYNN, NAALADL2, NAALADL2-AS1, NAALADL2-AS2, NAALADL2-AS3, NCBP2, NCBP2-AS1, NCBP2AS2, NCEH1, NDUFB5, NLGN1, NLGN1-AS1, NMD3, NRROS, OPA1, OPA1-AS1, OSTN, OSTN-AS1, OTOL1, P2RY1, P2RY12, P2RY13, P2RY14, P3H2, P3H2-AS1, PAK2, PARL, PCYT1A, PDCD10, PEX5L, PEX5L-AS2, PFN2, PHC3, PIGX, PIGZ, PIK3CA, PIK3CA-DT, PLAAT1, PLCH1, PLCH1-AS1, PLCH1-AS2, PLD1, POLR2H, PPM1L, PPP1R2, PRKCI, PSMD2, PTX3, PYDC2, PYDC2-AS1, RAP2B, RARRES1, RFC4, RNF13, RNF168, RPL22L1, RPL35A, RPL39L, RSRC1, RTP1, RTP2, RTP4, RUBCN, SAMD7, SCARNA7, SCHIP1, SEC62, SELENOT, SENP2, SENP5, SERP1, SERPINI1, SERPINI2, SHOX2, SI, SIAH2, SIAH2-AS1, SKIL, SLC2A2, SLC33A1, SLC51A, SLC7A14, SLC7A14-AS1, SLITRK3, SMC4, SMCO1, SNAR-I, SNHG33, SNORA4, SNORA63, SNORA63B, SNORA63D, SNORA63E, SNORA81, SNORD2, SNORD66, SOX2, SOX2-OT, SPATA16, SPTSSB, SSR3, SST, ST6GAL1, STRIT1, SUCNR1, TBCCD1, TBL1XR1, TBL1XR1-AS1, TERC, TFRC, THPO, TIPARP, TIPARP-AS1, TM4SF1, TM4SF1-AS1, TM4SF18, TM4SF19, TM4SF19-AS1, TM4SF19-DYNLT2B, TM4SF4, TMEM207, TMEM212, TMEM212-AS1, TMEM41A, TMEM44, TMEM44-AS1, TNFSF10, TNIK, TNK2, TNK2-AS1, TP63, TPRG1, TPRG1-AS1, TPRG1-AS2, TRA2B, TRIM59, TRIM59-IFT80, TRV-AAC1-1, TSC22D2, TTC14, TTC14-DT, UBXN7, UBXN7-AS1, UC.134, USP13, UTS2B, VEPH1, VPS8, VWA5B2, WDR49, WDR53, WWTR1, WWTR1-AS1, WWTR1-IT1, XXYLT1, XXYLT1-AS1, XXYLT1-AS2, YEATS2, YEATS2-AS1, ZBBX, ZDHHC19, ZMAT3, ZNF639 | | See cases | Pathogenic (Aug 12, 2011) | criteria provided, single submitter |
| - GRCh37:
- Chr3:148844501-148848419
- GRCh38:
- Chr3:149126714-149130632
| HPS3 | | Hermansky-Pudlak syndrome 3 | Pathogenic (Oct 11, 2012) | no assertion criteria provided |
| - GRCh37:
- Chr3:148847205
- GRCh38:
- Chr3:149129418
| HPS3 | | not provided | Likely benign (Jul 5, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr3:148847223
- GRCh38:
- Chr3:149129436
| HPS3 | | not provided | Benign (Jul 10, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr3:148847308
- GRCh38:
- Chr3:149129521
| HPS3 | | not provided | Benign (Jul 10, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr3:148847403
- GRCh38:
- Chr3:149129616
| HPS3 | | Hermansky-Pudlak syndrome | Uncertain significance (Jun 14, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr3:148847441
- GRCh38:
- Chr3:149129654
| HPS3 | | not provided, Hermansky-Pudlak syndrome 3 | Benign/Likely benign (Jul 9, 2018) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:148847461
- GRCh38:
- Chr3:149129674
| HPS3 | | Hermansky-Pudlak syndrome 3 | Uncertain significance (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr3:148847468
- GRCh38:
- Chr3:149129681
| HPS3 | | Hermansky-Pudlak syndrome 3 | Uncertain significance (Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr3:148847501-148847737
- GRCh38:
- Chr3:149129714-149129950
| HPS3 | | not provided | Pathogenic (Dec 17, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr3:148847511
- GRCh38:
- Chr3:149129724
| HPS3 | M1L | not provided | Uncertain significance (Feb 4, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr3:148847517
- GRCh38:
- Chr3:149129730
| HPS3 | Q3* | not provided | Pathogenic (May 8, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr3:148847520
- GRCh38:
- Chr3:149129733
| HPS3 | | not provided, Hermansky-Pudlak syndrome 3 | Conflicting interpretations of pathogenicity (Aug 16, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr3:148847522
- GRCh38:
- Chr3:149129735
| HPS3 | | not provided | Likely benign (Feb 17, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr3:148847525
- GRCh38:
- Chr3:149129738
| HPS3 | Y5* | not provided, Hermansky-Pudlak syndrome | Pathogenic (Dec 12, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:148847528
- GRCh38:
- Chr3:149129741
| HPS3 | | not provided | Likely benign (Nov 9, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr3:148847529
- GRCh38:
- Chr3:149129742
| HPS3 | | not provided | Likely benign (Dec 23, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr3:148847531
- GRCh38:
- Chr3:149129744
| HPS3 | | not provided | Likely benign (Feb 8, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr3:148847534
- GRCh38:
- Chr3:149129747
| HPS3 | | not provided | Likely benign (Dec 20, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr3:148847534
- GRCh38:
- Chr3:149129747
| HPS3 | P9fs | not provided | Pathogenic (Jan 10, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr3:148847537
- GRCh38:
- Chr3:149129750
| HPS3 | | not provided | Likely benign (Sep 11, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr3:148847537
- GRCh38:
- Chr3:149129750
| HPS3 | | not provided | Likely benign (Feb 5, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr3:148847543
- GRCh38:
- Chr3:149129756
| HPS3 | | not provided | Likely benign (Mar 18, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr3:148847545
- GRCh38:
- Chr3:149129758
| HPS3 | S12* | not provided | Pathogenic (Feb 20, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr3:148847546
- GRCh38:
- Chr3:149129759
| HPS3 | | not provided | Likely benign (Apr 10, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr3:148847548-148847549
- GRCh38:
- Chr3:149129761-149129762
| HPS3 | Q13P | not provided | Uncertain significance (Sep 17, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr3:148847561
- GRCh38:
- Chr3:149129774
| HPS3 | | not specified, not provided, Hermansky-Pudlak syndrome 3
| Conflicting interpretations of pathogenicity (Nov 1, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr3:148847573
- GRCh38:
- Chr3:149129786
| HPS3 | | not provided | Likely benign (Mar 26, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr3:148847576
- GRCh38:
- Chr3:149129789
| HPS3 | | not provided | Likely benign (Sep 11, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr3:148847576
- GRCh38:
- Chr3:149129789
| HPS3 | | not provided | Likely benign (Nov 22, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr3:148847579
- GRCh38:
- Chr3:149129792
| HPS3 | | not provided | Likely benign (Mar 19, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr3:148847580
- GRCh38:
- Chr3:149129793
| HPS3 | | not provided | Likely benign (Aug 19, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr3:148847585
- GRCh38:
- Chr3:149129798
| HPS3 | | not provided | Likely benign (Oct 11, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr3:148847587-148847612
- GRCh38:
- Chr3:149129800-149129825
| HPS3 | R30fs | not provided | Pathogenic (Oct 23, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr3:148847594
- GRCh38:
- Chr3:149129807
| HPS3 | | not provided | Likely benign (Oct 8, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr3:148847595-148847620
- GRCh38:
- Chr3:149129808-149129833
| HPS3 | R30fs | not provided, Hermansky-Pudlak syndrome 3 | Pathogenic/Likely pathogenic (Oct 16, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:148847597
- GRCh38:
- Chr3:149129810
| HPS3 | | not provided | Likely benign (Sep 9, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr3:148847599
- GRCh38:
- Chr3:149129812
| HPS3 | R30H | Inborn genetic diseases | Uncertain significance (Jun 21, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr3:148847603
- GRCh38:
- Chr3:149129816
| HPS3 | | not provided | Likely benign (Apr 17, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr3:148847606
- GRCh38:
- Chr3:149129819
| HPS3 | | not provided | Likely benign (May 18, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr3:148847621
- GRCh38:
- Chr3:149129834
| HPS3 | | not provided | Likely benign (May 21, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr3:148847624
- GRCh38:
- Chr3:149129837
| HPS3 | | not provided | Likely benign (Jul 26, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr3:148847627-148847628
- GRCh38:
- Chr3:149129840-149129841
| HPS3 | V41fs | not provided | Pathogenic (Apr 10, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr3:148847633
- GRCh38:
- Chr3:149129846
| HPS3 | | not provided | Likely benign (Jul 21, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr3:148847634
- GRCh38:
- Chr3:149129847
| HPS3 | E42* | Hermansky-Pudlak syndrome | Likely pathogenic (Feb 1, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr3:148847634
- GRCh38:
- Chr3:149129847
| HPS3 | E42Q | not specified | Uncertain significance (Sep 13, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr3:148847638
- GRCh38:
- Chr3:149129851
| HPS3 | A43E | not provided | Uncertain significance (Sep 2, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr3:148847642
- GRCh38:
- Chr3:149129855
| HPS3 | F44L | Hermansky-Pudlak syndrome 3, not provided | Uncertain significance (Aug 31, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:148847645
- GRCh38:
- Chr3:149129858
| HPS3 | | not provided | Likely benign (Nov 4, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr3:148847645
- GRCh38:
- Chr3:149129858
| HPS3 | | not provided | Likely benign (Nov 3, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr3:148847645
- GRCh38:
- Chr3:149129858
| HPS3 | | not provided | Likely benign (Oct 20, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr3:148847651
- GRCh38:
- Chr3:149129864
| HPS3 | | not provided | Likely benign (Apr 29, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr3:148847651
- GRCh38:
- Chr3:149129864
| HPS3 | | not provided | Likely benign (Sep 9, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr3:148847658
- GRCh38:
- Chr3:149129871
| HPS3 | E50* | not provided | Pathogenic (Aug 19, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr3:148847660
- GRCh38:
- Chr3:149129873
| HPS3 | E50D | Inborn genetic diseases, not provided | Uncertain significance (Apr 28, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:148847668
- GRCh38:
- Chr3:149129881
| HPS3 | Q53R | not provided, Hermansky-Pudlak syndrome 3 | Benign (Nov 3, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:148847669
- GRCh38:
- Chr3:149129882
| HPS3 | Q53H | not provided, Hermansky-Pudlak syndrome 3 | Uncertain significance (Jul 11, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:148847671
- GRCh38:
- Chr3:149129884
| HPS3 | P54L | not provided | Uncertain significance (Dec 3, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr3:148847672
- GRCh38:
- Chr3:149129885
| HPS3 | | not provided | Likely benign (Aug 24, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr3:148847681
- GRCh38:
- Chr3:149129894
| HPS3 | | not provided | Likely benign (Mar 13, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr3:148847689-148847705
- GRCh38:
- Chr3:149129902-149129918
| HPS3 | L61fs | not provided | Pathogenic (Jan 30, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr3:148847690
- GRCh38:
- Chr3:149129903
| HPS3 | | not provided | Likely benign (Feb 5, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr3:148847692
- GRCh38:
- Chr3:149129905
| HPS3 | L61P | Hermansky-Pudlak syndrome 3, not provided | Uncertain significance (Jul 19, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:148847699
- GRCh38:
- Chr3:149129912
| HPS3 | | not provided | Likely benign (Dec 10, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr3:148847705-148847718
- GRCh38:
- Chr3:149129918-149129931
| HPS3 | L67fs | not provided | Pathogenic (Nov 26, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr3:148847706
- GRCh38:
- Chr3:149129919
| HPS3 | R66C | not provided, Hermansky-Pudlak syndrome 3 | Uncertain significance (Jul 21, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:148847709
- GRCh38:
- Chr3:149129922
| HPS3 | | not provided | Benign (Sep 23, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr3:148847712-148847713
- GRCh38:
- Chr3:149129925-149129926
| HPS3 | A68fs | not provided | Pathogenic (Jul 28, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr3:148847714
- GRCh38:
- Chr3:149129927
| HPS3 | | not provided | Likely benign (Aug 20, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr3:148847726
- GRCh38:
- Chr3:149129939
| HPS3 | | not provided | Uncertain significance (Mar 17, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr3:148847729
- GRCh38:
- Chr3:149129942
| HPS3 | | not provided | Likely pathogenic (Oct 3, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr3:148847735
- GRCh38:
- Chr3:149129948
| HPS3 | | not provided | Likely benign (May 17, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr3:148847736
- GRCh38:
- Chr3:149129949
| HPS3 | | not provided | Likely benign (Feb 18, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr3:148847737
- GRCh38:
- Chr3:149129950
| HPS3 | | not provided | Likely benign (May 13, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr3:148847742
- GRCh38:
- Chr3:149129955
| HPS3 | | not provided | Likely benign (Jul 14, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr3:148847746
- GRCh38:
- Chr3:149129959
| HPS3 | | not provided | Benign (Nov 2, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr3:148847859
- GRCh38:
- Chr3:149130072
| HPS3 | | not provided | Benign (Jul 10, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr3:148847934
- GRCh38:
- Chr3:149130147
| HPS3 | | not provided | Benign (Jul 10, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr3:148847967
- GRCh38:
- Chr3:149130180
| HPS3 | | not provided | Benign (Jul 9, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr3:148855140-149137687
- GRCh38:
- Chr3:149137353-149419900
| CP, HPS3, LOC126806839, LOC126806840, LOC126806841, TM4SF1, TM4SF1-AS1, TM4SF18 | | See cases | Uncertain significance (Mar 31, 2015) | no assertion criteria provided |
| - GRCh37:
- Chr3:148856981-148858808
- GRCh38:
- Chr3:149139194-149141021
| HPS3 | | not provided | Likely pathogenic (Dec 31, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr3:148857690
- GRCh38:
- Chr3:149139903
| HPS3 | | not provided | Benign (Jul 10, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr3:148857714
- GRCh38:
- Chr3:149139927
| HPS3 | | not provided | Benign (Jul 10, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr3:148857772
- GRCh38:
- Chr3:149139985
| HPS3 | | not provided | Likely benign (Oct 13, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr3:148857774
- GRCh38:
- Chr3:149139987
| HPS3 | | not provided | Likely benign (Sep 26, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr3:148857782
- GRCh38:
- Chr3:149139995
| HPS3 | | not provided | Likely benign (Sep 14, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr3:148857786
- GRCh38:
- Chr3:149139999
| HPS3 | | not provided | Likely benign (Feb 13, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr3:148857789
- GRCh38:
- Chr3:149140002
| HPS3 | | not provided | Likely pathogenic (May 30, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr3:148857799
- GRCh38:
- Chr3:149140012
| HPS3 | | not provided | Likely benign (Jan 26, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr3:148857808
- GRCh38:
- Chr3:149140021
| HPS3 | I79L | not provided | Uncertain significance (Jun 8, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr3:148857816-148857817
- GRCh38:
- Chr3:149140029-149140030
| HPS3 | N83fs | not provided | Pathogenic (Apr 20, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr3:148857818
- GRCh38:
- Chr3:149140031
| HPS3 | K82R | not provided | Uncertain significance (Jul 7, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr3:148857819
- GRCh38:
- Chr3:149140032
| HPS3 | | not provided | Likely benign (Mar 9, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr3:148857819-148857822
- GRCh38:
- Chr3:149140032-149140035
| HPS3 | N83fs | not provided | Pathogenic (Dec 8, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr3:148857825
- GRCh38:
- Chr3:149140038
| HPS3 | | not provided | Likely benign (Mar 1, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr3:148857828
- GRCh38:
- Chr3:149140041
| HPS3 | | not provided | Likely benign (Aug 23, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr3:148857831
- GRCh38:
- Chr3:149140044
| HPS3 | | not provided | Likely benign (Feb 8, 2022) | criteria provided, single submitter |