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VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr14:20511673-107285437
GRCh38:
Chr14:20043514-106877229
LOC121468010, LOC121468011, LOC121468012, LOC121468013, LOC121468014, LOC121468015, LOC121468016, LOC121529649, LOC121529650, LOC121529651, LOC121529652, LOC121529653, LOC121529654, LOC121529655, LOC121529656, LOC121529657, LOC121529658, LOC121529659, LOC121529660, LOC121838585, LOC121838586, LOC121838587, LOC121838588, LOC121838589, LOC121838590, LOC121838591, LOC121838592, LOC121838593, LOC121838594, LOC121838595, LOC121838596, LOC121838597, LOC121838598, LOC121838599, LOC121838600, LOC121838601, LOC121838602, LOC124958010, LOC124958011, LOC124958012, LOC124958013, LOC124958014, LOC124958015, LOC124958016, LOC124995348, LOC124995349, LOC124995350, LOC124995351, LOC124995352, LOC124995353, LOC124995354, LOC124995355, LOC124995356, LOC124995359, LOC124995360, LOC124995361, LOC124995362, LOC124995363, LOC124995364, LOC124995365, LOC124995366, LOC124995367, LOC124995368, LOC124995369, LOC124995370, LOC124995371, LOC124995372, LOC124995373, LOC124995374, LOC125024475, LOC125024476, LOC125024477, LOC125024478, LOC125024479, LOC125024480, LOC125024481, LOC125024482, LOC125024483, LOC125024484, LOC125024485, LOC125024486, LOC125024487, LOC125024488, LOC125024489, LOC125024490, LOC125024491, LOC125024492, LOC125024493, LOC125024495, LOC125024496, LOC125024497, LOC125024498, LOC125024499, LOC125024500, LOC125024501, LOC125024503, LOC125024505, LOC125024506, LOC125048423, LOC125048424, LOC125048425, LOC125048426, LOC125048427, LOC125048428, LOC125048429, LOC125048430, LOC125048431, LOC125048432, LOC125048433, LOC125048434, LOC125048435, LOC125048436, LOC125048437, LOC125048439, LOC125048440, LOC125048441, LOC125048442, LOC125048444, LOC125048445, LOC125048446, LOC125048447, LOC125048449, LOC125048450, LOC125048451, LOC125048452, LOC125048453, LOC125048454, LOC125048455, LOC125048456, LOC125048457, LOC125078019, LOC125078020, LOC125078021, LOC125078022, LOC125078024, LOC125078025, LOC125078026, LOC125078027, LOC125078028, LOC125078030, LOC125078031, LOC125078034, LOC125078035, LOC125078036, LOC125078037, LOC125078038, LOC125078039, LOC125078040, LOC125078042, LOC125078043, LOC125078045, LOC126861878, LOC126861879, LOC126861880, LOC126861881, LOC126861882, LOC126861883, LOC126861884, LOC126861885, LOC126861886, LOC126861887, LOC126861888, LOC126861889, LOC126861890, LOC126861891, LOC126861892, LOC126861893, LOC126861894, LOC126861895, LOC126861896, LOC126861897, LOC126861898, LOC126861899, LOC126861900, LOC126861901, LOC126861902, LOC126861903, LOC126861904, LOC126861905, LOC126861906, LOC126861907, LOC126861908, LOC126861909, LOC126861910, LOC126861911, LOC126861912, LOC126861913, LOC126861914, LOC126861915, LOC126861916, LOC126861917, LOC126861918, LOC126861919, LOC126861920, LOC126861921, LOC126861922, LOC126861923, LOC126861924, LOC126861925, LOC126861926, LOC126861927, LOC126861928, LOC126861929, LOC126861930, LOC126861931, LOC126861932, LOC126861933, LOC126861934, LOC126861935, LOC126861936, LOC126861937, LOC126861938, LOC126861939, LOC126861940, LOC126861941, LOC126861942, LOC126861943, LOC126861944, LOC126861945, LOC126861946, LOC126861947, LOC126861948, LOC126861949, LOC126861950, LOC126861951, LOC126861952, LOC126861953, LOC126861954, LOC126861955, LOC126861956, LOC126861957, LOC126861958, LOC126861959, LOC126861960, LOC126861961, LOC126861962, LOC126861963, LOC126861964, LOC126861965, LOC126861966, LOC126861967, LOC126861968, LOC126861969, LOC126861970, LOC126861971, LOC126861972, LOC126861973, LOC126861974, LOC126861975, LOC126861976, LOC126861977, LOC126861978, LOC126861979, LOC126861980, LOC126861981, LOC126861982, LOC126861983, LOC126861984, LOC126861985, LOC126861986, LOC126861987, LOC126861988, LOC126861989, LOC126861990, LOC126861991, LOC126861992, LOC126861993, LOC126861994, LOC126861995, LOC126861996, LOC126861997, LOC126861998, LOC126861999, LOC126862000, LOC126862001, LOC126862002, LOC126862003, LOC126862004, LOC126862005, LOC126862006, LOC126862007, LOC126862008, LOC126862009, LOC126862010, LOC126862011, LOC126862012, LOC126862013, LOC126862014, LOC126862015, LOC126862016, LOC126862017, LOC126862018, LOC126862019, LOC126862020, LOC126862021, LOC126862022, LOC126862023, LOC126862024, LOC126862025, LOC126862026, LOC126862027, LOC126862028, LOC126862029, LOC126862030, LOC126862031, LOC126862032, LOC126862033, LOC126862034, LOC126862035, LOC126862036, LOC126862037, LOC126862038, LOC126862039, LOC126862040, LOC126862041, LOC126862042, LOC126862043, LOC126862044, LOC126862045, LOC126862046, LOC126862047, LOC126862048, LOC126862049, LOC126862050, LOC126862051, LOC126862052, LOC126862053, LOC126862054, LOC126862055, LOC126862056, LOC126862057, LOC126862058, LOC126862059, LOC126862060, LOC126862061, LOC126862062, LOC126862063, LOC126862064, LOC126862065, LOC126862066, LOC126862067, LOC126862068, LOC126862069, LOC126862070, LOC126862071, LOC126862072, LOC126862073, LOC145474, LOC400212, LRFN5, LRP10, LRR1, LRRC74A, LRRC9, LTB4R, LTB4R2, LTBP2, LYSET, MAP3K9, MAP3K9-DT, MAP4K5, MAPK1IP1L, MARK3, MAX, MBIP, MDGA2, MDP1, MED6, MEG3, MEG8, MEG9, METTL17, METTL3, MGAT2, MHRT, MIA2, MIA2-AS1, MIDEAS, MIDEAS-AS1, MIPOL1, MIR1185-1, MIR1185-2, MIR1193, MIR1197, MIR12121, MIR1247, MIR1260A, MIR127, MIR134, MIR136, MIR151B, MIR154, MIR203A, MIR203B, MIR208A, MIR208B, MIR2392, MIR299, MIR300, MIR3171, MIR3171HG, MIR3173, MIR323A, MIR323B, MIR329-1, MIR329-2, MIR337, MIR342, MIR345, MIR369, MIR370, MIR376A1, MIR376A2, MIR376B, MIR376C, MIR377, MIR379, MIR380, MIR381, MIR381HG, MIR382, MIR409, MIR410, MIR411, MIR412, MIR4307, MIR4307HG, MIR4308, MIR4309, MIR431, MIR432, MIR433, MIR4503, MIR4504, MIR4505, MIR4506, MIR4507, MIR4537, MIR4538, MIR4539, MIR4706, MIR4707, MIR4708, MIR4709, MIR4710, MIR485, MIR487A, MIR487B, MIR493, MIR494, MIR495, MIR496, MIR5195, MIR539, MIR541, MIR543, MIR544A, MIR548H1, MIR548Y, MIR5580, MIR5586, MIR5694, MIR6076, MIR624, MIR625, MIR654, MIR655, MIR656, MIR665, MIR668, MIR6717, MIR6764, MIR6765, MIR758, MIR770, MIR7703, MIR7843, MIR7855, MIR8071-1, MIR8071-2, MIR889, MIR9718, MIS18BP1, MLH3, MMP14, MNAT1, MOAP1, MOK, MRPL52, MTA1, MTA1-DT, MTHFD1, MYH6, MYH7, NAA30, NDRG2, NDUFB1, NEDD8, NEDD8-MDP1, NEK9, NEMF, NFATC4, NFKBIA, NGB, NGDN, NID2, NIN, NKX2-1, NKX2-1-AS1, NKX2-8, NOP9, NOVA1, NOVA1-DT, NOXRED1, NPAS3, NPC2, NRDE2, NRL, NRXN3, NUBPL, NUBPL-DT, NUDT14, NUMB, NYNRIN, OR10G2, OR10G3, OR11G2, OR11H4, OR11H6, OR11H7, OR4E1, OR4E2, OR4K17, OR4L1, OR4N5, OR5AU1, OR6J1, OR6S1, OSGEP, OTUB2, OTX2, OTX2-AS1, OXA1L, PABPN1, PACS2, PALS1, PAPLN, PAPLN-AS1, PAPOLA, PAPOLA-DT, PARP2, PAX9, PCK2, PCNX1, PCNX4, PCNX4-DT, PELI2, PGF, PIGH, PIP4P1, PLD4, PLEK2, PLEKHD1, PLEKHG3, PLEKHH1, PNMA1, PNN, PNP, POLE2, POMT2, PPM1A, PPP1R13B, PPP1R13B-DT, PPP1R36, PPP1R3E, PPP2R3C, PPP2R5C, PPP2R5E, PPP4R3A, PPP4R4, PRIMA1, PRKCH, PRKCH-AS1, PRKD1, PRMT5, PRMT5-AS1, PRMT5-DT, PRORP, PRORP-PSMA6, PROX2, PRPF39, PRPF39-DT, PSEN1, PSMA3, PSMA3-AS1, PSMA6, PSMB11, PSMB5, PSMC1, PSMC6, PSME1, PSME2, PTCSC3, PTGDR, PTGER2, PTGR2, PTPN21, PYGL, RAB15, RAB2B, RABGGTA, RAD51B, RALGAPA1, RBM23, RBM25, RBM25-AS1, RCOR1, RD3L, RDH11, RDH12, REC8, REM2, RGS6, RHOJ, RIN3, RIOX1, RIPK3, RN7SL1, RN7SL2, RN7SL3, RNASE1, RNASE10, RNASE11, RNASE11-AS1, RNASE12, RNASE13, RNASE2, RNASE3, RNASE4, RNASE6, RNASE7, RNASE8, RNASE9, RNF212B, RNF31, RNU6-7, RNU6-8, RPGRIP1, RPL10L, RPL36AL, RPPH1, RPS29, RPS6KA5, RPS6KL1, RTL1, RTN1, RTRAF, SALL2, SALRNA1, SAMD15, SAMD4A, SAMD4A-AS1, SAV1, SCARNA13, SCFD1, SDR39U1, SEC23A, SEC23A-AS1, SEL1L, SERPINA1, SERPINA10, SERPINA11, SERPINA12, SERPINA2, SERPINA3, SERPINA4, SERPINA5, SERPINA6, SERPINA9, SETD3, SFTA3, SGPP1, SIPA1L1, SIPA1L1-AS1, SIVA1, SIX1, SIX4, SIX6, SLC10A1, SLC22A17, SLC24A4, SLC25A21, SLC25A21-AS1, SLC25A29, SLC25A47, SLC35F4, SLC38A6, SLC39A2, SLC39A9, SLC7A7, SLC7A8, SLC8A3, SLIRP, SMOC1, SNAPC1, SNHG10, SNORA101B, SNORA11B, SNORA28, SNORA79, SNORA79B, SNORA89, SNORD112, SNORD113-1, SNORD113-2, SNORD113-3, SNORD113-4, SNORD113-5, SNORD113-6, SNORD113-7, SNORD113-8, SNORD113-9, SNORD114-1, SNORD114-10, SNORD114-11, SNORD114-12, SNORD114-13, SNORD114-14, SNORD114-15, SNORD114-16, SNORD114-17, SNORD114-18, SNORD114-19, SNORD114-2, SNORD114-20, SNORD114-21, SNORD114-22, SNORD114-23, SNORD114-24, SNORD114-25, SNORD114-26, SNORD114-27, SNORD114-28, SNORD114-29, SNORD114-3, SNORD114-30, SNORD114-31, SNORD114-4, SNORD114-5, SNORD114-6, SNORD114-7, SNORD114-8, SNORD114-9, SNORD126, SNORD127, SNORD169, SNORD3P3, SNORD56B, SNORD8, SNORD9, SNW1, SNX6, SOCS4, SOS2, SPATA7, SPTB, SPTLC2, SPTSSA, SRP54, SRP54-AS1, SRSF5, SSTR1, STON2, STRN3, STXBP6, STYX, SUPT16H, SUSD6, SYNDIG1L, SYNE2, SYNE3, SYNJ2BP, SYNJ2BP-COX16, SYT16, TBPL2, TC2N, TCL1A, TCL1B, TCL6, TDP1, TDRD9, TECPR2, TEDC1, TEP1, TEX22, TGFB3, TGM1, THTPA, TIMM9, TINF2, TM9SF1, TMED10, TMED8, TMEM121, TMEM179, TMEM229B, TMEM253, TMEM260, TMEM30B, TMEM63C, TMX1, TNFAIP2, TOGARAM1, TOMM20L, TOMM20L-DT, TOX4, TPPP2, TRA, TRA-AGC15-1, TRAC, TRAF3, TRAJ1, TRAJ10, TRAJ11, TRAJ12, TRAJ13, TRAJ14, TRAJ15, TRAJ16, TRAJ17, TRAJ18, TRAJ19, TRAJ2, TRAJ20, TRAJ21, TRAJ22, TRAJ23, TRAJ24, TRAJ25, TRAJ26, TRAJ27, TRAJ28, TRAJ29, TRAJ3, TRAJ30, TRAJ31, TRAJ32, TRAJ33, TRAJ34, TRAJ35, TRAJ36, TRAJ37, TRAJ38, TRAJ39, TRAJ4, TRAJ40, TRAJ41, TRAJ42, TRAJ43, TRAJ44, TRAJ45, TRAJ46, TRAJ47, TRAJ48, TRAJ49, TRAJ5, TRAJ50, TRAJ52, TRAJ53, TRAJ54, TRAJ56, TRAJ57, TRAJ58, TRAJ59, TRAJ6, TRAJ61, TRAJ7, TRAJ8, TRAJ9, TRAPPC6B, TRAV1-1, TRAV1-2, TRAV10, TRAV12-1, TRAV12-2, TRAV12-3, TRAV13-1, TRAV13-2, TRAV14DV4, TRAV16, TRAV17, TRAV18, TRAV19, TRAV2, TRAV20, TRAV21, TRAV22, TRAV23DV6, TRAV24, TRAV25, TRAV26-1, TRAV26-2, TRAV27, TRAV29DV5, TRAV3, TRAV30, TRAV34, TRAV35, TRAV36DV7, TRAV38-1, TRAV38-2DV8, TRAV39, TRAV4, TRAV40, TRAV41, TRAV5, TRAV6, TRAV7, TRAV8-1, TRAV8-2, TRAV8-3, TRAV8-4, TRAV8-6, TRAV8-7, TRAV9-1, TRAV9-2, TRC-GCA8-1, TRD, TRD-AS1, TRDC, TRDD1, TRDD2, TRDD3, TRDJ1, TRDJ2, TRDJ3, TRDJ4, TRDV1, TRDV2, TRDV3, TRI-AAT5-4, TRIM9, TRIP11, TRK-CTT1-1, TRL-AAG2-3, TRL-TAG2-1, TRMT5, TRMT61A, TRP-AGG2-5, TRP-AGG2-6, TRP-TGG1-1, TRP-TGG3-2, TRR-ACG1-3, TRT-TGT3-1, TRT-TGT4-1, TRT-TGT5-1, TRY-GTA4-1, TRY-GTA5-3, TRY-GTA5-4, TRY-GTA5-5, TRY-GTA7-1, TSHR, TSSK4, TTC5, TTC6, TTC7B, TTC7B-AS1, TTC8, TTC9, TTC9-DT, TTLL5, TUNAR, TXNDC16, UBR7, UNC79, VASH1, VASH1-AS1, VCPKMT, VIPAS39, VRK1, VRTN, VSX2, VTI1B, WARS1, WDHD1, WDR20, WDR25, WDR89, XRCC3, YLPM1, YY1, ZBTB1, ZBTB25, ZBTB42, ZC2HC1C, ZC3H14, ZDHHC22, ZFHX2, ZFP36L1, ZFYVE1, ZFYVE21, ZFYVE26, ZNF219, ZNF410, ZNF839, CMTM5, CNIH1, COA8, COCH, COQ6, COX16, COX8C, CPNE6, CPSF2, CRIP1, CRIP2, CTSG, CYP46A1, DAAM1, DACT1, DAD1, DCAF11, DCAF4, DCAF5, DDHD1, DDHD1-DT, DDX24, DEGS2, DGLUCY, DHRS1, DHRS2, DHRS4, DHRS4-AS1, DHRS4L1, DHRS4L2, DHRS7, DICER1, DICER1-AS1, DIO2, DIO2-AS1, DIO3, DIO3OS, DLGAP5, DLK1, DLST, DMAC2L, DNAAF2, DNAL1, DPF3, DTD2, DYNC1H1, EAPP, EDDM3A, EDDM3B, EFCAB11, EFS, EGILA, EGLN3, EGLN3-AS1, EIF2B2, EIF2S1, EIF5, EIF5-DT, EMC9, EML1, EML5, ENTPD5, ERG28, ERH, ERO1A, ESR2, ESRRB, EVL, EXD2, EXOC3L4, EXOC5, FAM161B, FAM177A1, FAM181A, FAM181A-AS1, FAM30A, FANCM, FBLN5, FBXO33, FBXO34, FBXO34-AS1, FCF1, FERMT2, FITM1, FKBP3, FLRT2, FLRT2-AS1, FLVCR2, FLVCR2-AS1, FNTB, FOS, FOXA1, FOXG1, FOXG1-AS1, FOXN3, FOXN3-AS1, FOXN3-AS2, FRMD6, FRMD6-AS1, FRMD6-AS2, FSCB, FUT8, FUT8-AS1, G2E3, G2E3-AS1, GALC, GALNT16, GALNT16-AS1, GARIN2, GCH1, GEMIN2, GLRX5, GMFB, GMPR2, GNG2, GNPNAT1, GOLGA5, GON7, GPATCH2L, GPHB5, GPHN, GPR132, GPR135, GPR137C, GPR33, GPR65, GPR68, GPX2, GSC, GSC-DT, GSKIP, GSTZ1, GTF2A1, GTF2A1-AS1, GZMB, GZMH, HAUS4, HEATR4, HEATR5A, HEATR5A-DT, HECTD1, HHIPL1, HIF1A, HIF1A-AS1, HIF1A-AS2, HIF1A-AS3, HISLA, HNRNPC, HOMEZ, HSP90AA1, HSPA2, HSPA2-AS1, IFI27, IFI27L1, IFI27L2, IFT43, IGH, IGHA1, IGHA2, IGHD, IGHD1-1, IGHD1-14, IGHD1-20, IGHD1-26, IGHD1-7, IGHD2-15, IGHD2-2, IGHD2-21, IGHD2-8, IGHD3-10, IGHD3-16, IGHD3-22, IGHD3-3, IGHD3-9, IGHD4-11, IGHD4-17, IGHD4-23, IGHD4-4, IGHD5-12, IGHD5-18, IGHD5-24, IGHD5-5, IGHD6-13, IGHD6-19, IGHD6-25, IGHD6-6, IGHD7-27, IGHE, IGHG1, IGHG2, IGHG3, IGHG4, IGHJ1, IGHJ2, IGHJ3, IGHJ4, IGHJ5, IGHJ6, IGHM, IGHV1-18, IGHV1-2, IGHV1-24, IGHV1-3, IGHV1-45, IGHV1-46, IGHV1-58, IGHV1-69, IGHV1-69-2, IGHV1-69D, IGHV2-26, IGHV2-5, IGHV2-70, IGHV2-70D, IGHV3-11, IGHV3-13, IGHV3-15, IGHV3-16, IGHV3-20, IGHV3-21, IGHV3-23, IGHV3-30, IGHV3-33, IGHV3-35, IGHV3-38, IGHV3-43, IGHV3-48, IGHV3-49, IGHV3-53, IGHV3-64, IGHV3-64D, IGHV3-66, IGHV3-7, IGHV3-72, IGHV3-73, IGHV3-74, IGHV4-28, IGHV4-30-2, IGHV4-31, IGHV4-34, IGHV4-39, IGHV4-4, IGHV4-59, IGHV4-61, IGHV5-10-1, IGHV5-51, IGHV6-1, IGHV7-4-1, IGHV7-81, IL25, INF2, INSM2, IPO4, IRF2BPL, IRF9, ISCA2, ISM2, ITPK1, ITPK1-AS1, JAG2, JDP2, JDP2-AS1, JKAMP, JPH4, KCNH5, KCNK10, KCNK13, KHNYN, KIAA0586, KIF26A, KIF26A-DT, KLC1, KLHDC1, KLHDC2, KLHL28, KLHL33, KTN1, KTN1-AS1, L2HGDH, L3HYPDH, LBHD2, LGALS3, LGMN, LIN52, LINC00216, LINC00221, LINC00226, LINC00239, LINC00517, LINC00519, LINC00520, LINC00523, LINC00524, LINC00596, LINC00605, LINC00609, LINC00618, LINC00638, LINC00639, LINC00640, LINC00641, LINC00642, LINC00643, LINC00644, LINC00645, LINC00648, LINC00677, LINC00871, LINC00911, LINC01147, LINC01148, LINC01220, LINC01269, LINC01303, LINC01467, LINC01500, LINC01550, LINC01551, LINC01588, LINC01599, LINC01629, LINC02274, LINC02280, LINC02281, LINC02282, LINC02284, LINC02285, LINC02286, LINC02287, LINC02288, LINC02289, LINC02290, LINC02291, LINC02292, LINC02293, LINC02294, LINC02295, LINC02296, LINC02298, LINC02299, LINC02300, LINC02301, LINC02302, LINC02303, LINC02304, LINC02305, LINC02307, LINC02308, LINC02309, LINC02310, LINC02311, LINC02312, LINC02313, LINC02314, LINC02315, LINC02316, LINC02317, LINC02318, LINC02319, LINC02320, LINC02321, LINC02322, LINC02323, LINC02324, LINC02325, LINC02326, LINC02327, LINC02328, LINC02329, LINC02330, LINC02331, LINC02332, LINC02691, LINC02833, LINC02914, LINC03033, LOC100289511, LOC100506071, LOC100506321, LOC100506358, LOC100996664, LOC101927045, LOC101927178, LOC101927418, LOC101927690, LOC101927702, LOC101928143, LOC101928817, LOC101929107, LOC101929718, LOC102723604, LOC105370457, LOC105370473, LOC105370489, LOC105370525, LOC105370579, LOC105370586, LOC105370589, LOC105370616, LOC105370619, LOC105370622, LOC105370670, LOC105370689, LOC105370697, LOC105370705, LOC105378183, LOC106799836, LOC106799848, LOC106799849, LOC107372315, LOC107882126, LOC107984703, LOC108228206, LOC108251794, LOC108281111, LOC108281122, LOC108281128, LOC108281166, LOC108348026, LOC108663987, LOC109433677, LOC109433679, LOC110120856, LOC110120857, LOC110120874, LOC110120876, LOC110120895, LOC110120901, LOC110120902, LOC110120904, LOC110120910, LOC110120925, LOC110121319, LOC110121324, LOC110121325, LOC110121326, LOC110121327, LOC110121333, LOC110121354, LOC110121358, LOC110121362, LOC110121372, LOC110121376, LOC110121377, LOC110121391, LOC110121392, LOC110121404, LOC110121407, LOC110121412, LOC110121414, LOC110121422, LOC110121424, LOC110121431, LOC110121433, LOC110121447, LOC110121459, LOC110121463, LOC110121490, LOC110121504, LOC111365186, LOC111365187, LOC111365188, LOC111365217, LOC111365221, LOC111413013, LOC111413016, LOC111413041, LOC111500315, LOC111556149, LOC111591503, LOC111721711, LOC111811966, LOC111822947, LOC112163679, LOC112163680, LOC112163681, LOC112163682, LOC112163683, LOC112163684, LOC112163685, LOC112214170, LOC112214171, LOC112214174, LOC112214175, LOC112214176, LOC112267849, LOC112267850, LOC112267851, LOC112267852, LOC112267853, LOC112267854, LOC112268136, LOC112268140, LOC112268478, LOC112268479, LOC112268480, LOC112268481, LOC112268482, LOC112268483, LOC112268484, LOC112268485, LOC112268486, LOC112272545, LOC112272546, LOC112272548, LOC112272549, LOC112272550, LOC112272551, LOC112272552, LOC112272553, LOC112272554, LOC112272555, LOC112272556, LOC112272557, LOC112272558, LOC112272559, LOC112272560, LOC112272561, LOC112272566, LOC112272567, LOC112272568, LOC112272569, LOC112272570, LOC112272571, LOC112272572, LOC112272573, LOC113939940, LOC113939941, LOC114827851, LOC116268458, LOC116268459, LOC116268460, LOC116268461, LOC116268462, LOC116268463, LOC116268464, LOC121468008, LOC121468009, ABCD4, ABHD12B, ABHD4, ACIN1, ACOT1, ACOT2, ACOT4, ACOT6, ACTN1, ACTN1-DT, ACTR10, ACYP1, ADAM20, ADAM21, ADCK1, ADCY4, ADSS1, AHNAK2, AHSA1, AJUBA, AK7, AKAP5, AKAP6, AKT1, ALDH6A1, ALKBH1, AMN, ANG, ANGEL1, ANKRD9, AP1G2, AP1G2-AS1, AP4S1, AP5M1, APEX1, AREL1, ARF6, ARG2, ARHGAP5, ARHGAP5-AS1, ARHGEF40, ARID4A, ARMH4, ASB2, ASPG, ATG14, ATG2B, ATL1, ATP5MJ, ATP6V1D, ATXN3, BAG5, BATF, BAZ1A, BAZ1A-AS1, BBOF1, BCL11B, BCL2L2, BCL2L2-PABPN1, BDKRB1, BDKRB2, BEGAIN, BMP4, BRF1, BRMS1L, BTBD6, BTBD7, C14orf119, C14orf132, C14orf178, C14orf180, C14orf28, C14orf39, C14orf93, CALM1, CARMIL3, CATSPERB, CBLN3, CCDC175, CCDC177, CCDC196, CCDC197, CCDC198, CCDC85C, CCDC88C, CCDC88C-DT, CCNB1IP1, CCNK, CDC42BPB, CDCA4, CDH24, CDKL1, CDKN3, CEBPE, CEP128, CEP170B, CFL2, CGRRF1, CHD8, CHGA, CHMP4A, CHURC1, CHURC1-FNTB, CIDEB, CINP, CIPC, CIROP, CKB, CLBA1, CLEC14A, CLMN, CMA1
See casesPathogenic
(Dec 2, 2014)
no assertion criteria provided
2.
GRCh37:
Chr14:20619308-107263478
GRCh38:
Chr14:20151149-106855263
LOC111556149, LOC111591503, LOC111721711, LOC111811966, LOC111822947, LOC112163679, LOC112163680, LOC112163681, LOC112163682, LOC112163683, LOC112163684, LOC112163685, LOC112214170, LOC112214171, LOC112214174, LOC112214175, LOC112214176, LOC112267849, LOC112267850, LOC112267851, LOC112267852, LOC112267853, LOC112267854, LOC112268136, LOC112268140, LOC112268478, LOC112268479, LOC112268480, LOC112268481, LOC112268482, LOC112268483, LOC112268484, LOC112268485, LOC112268486, LOC112272545, LOC112272546, LOC112272548, LOC112272549, LOC112272550, LOC112272551, LOC112272552, LOC112272553, LOC112272554, LOC112272555, LOC112272556, LOC112272557, LOC112272558, LOC112272559, LOC112272560, LOC112272561, LOC112272566, LOC112272567, LOC112272568, LOC112272569, LOC112272570, LOC112272571, LOC112272572, LOC112272573, LOC113939940, LOC113939941, LOC114827851, LOC116268458, LOC116268459, LOC116268460, LOC116268461, LOC116268462, LOC116268463, LOC116268464, LOC121468008, LOC121468009, LOC121468010, LOC121468011, LOC121468012, LOC121468013, LOC121468014, LOC121468015, LOC121468016, LOC121529649, LOC121529650, LOC121529651, LOC121529652, LOC121529653, LOC121529654, LOC121529655, LOC121529656, LOC121529657, LOC121529658, LOC121529659, LOC121529660, LOC121838585, LOC121838586, LOC121838587, LOC121838588, LOC121838589, LOC121838590, LOC121838591, LOC121838592, LOC121838593, LOC121838594, LOC121838595, LOC121838596, LOC121838597, LOC121838598, LOC121838599, LOC121838600, LOC121838601, LOC121838602, LOC124958010, LOC124958011, LOC124958012, LOC124958013, LOC124958014, LOC124958015, LOC124958016, LOC124995348, LOC124995349, LOC124995350, LOC124995351, LOC124995352, LOC124995353, LOC124995354, LOC124995355, LOC124995356, LOC124995359, LOC124995360, LOC124995361, LOC124995362, LOC124995363, LOC124995364, LOC124995365, LOC124995366, LOC124995367, LOC124995368, LOC124995369, LOC124995370, LOC124995371, LOC124995372, LOC124995373, LOC124995374, LOC125024475, LOC125024476, LOC125024477, LOC125024478, LOC125024479, LOC125024480, LOC125024481, LOC125024482, LOC125024483, LOC125024484, LOC125024485, LOC125024486, LOC125024487, LOC125024488, LOC125024489, LOC125024490, LOC125024491, LOC125024492, LOC125024493, LOC125024495, LOC125024496, LOC125024497, LOC125024498, LOC125024499, LOC125024500, LOC125024501, LOC125024503, LOC125024505, LOC125024506, LOC125048423, LOC125048424, LOC125048425, LOC125048426, LOC125048427, LOC125048428, LOC125048429, LOC125048430, LOC125048431, LOC125048432, LOC125048433, LOC125048434, LOC125048435, LOC125048436, LOC125048437, LOC125048439, LOC125048440, LOC125048441, LOC125048442, LOC125048444, LOC125048445, LOC125048446, LOC125048447, LOC125048449, LOC125048450, LOC125048451, LOC125048452, LOC125048453, LOC125048454, LOC125048455, LOC125048456, LOC125048457, LOC125078019, LOC125078020, LOC125078021, LOC125078022, LOC125078024, LOC125078025, LOC125078026, LOC125078027, LOC125078028, LOC125078030, LOC125078031, LOC125078034, LOC125078035, LOC125078036, LOC125078037, LOC125078038, LOC125078039, LOC125078040, LOC125078042, LOC125078043, LOC125078045, LOC126861878, LOC126861879, LOC126861880, LOC126861881, LOC126861882, LOC126861883, LOC126861884, LOC126861885, LOC126861886, LOC126861887, LOC126861888, LOC126861889, LOC126861890, LOC126861891, LOC126861892, LOC126861893, LOC126861894, LOC126861895, LOC126861896, LOC126861897, LOC126861898, LOC126861899, LOC126861900, LOC126861901, LOC126861902, LOC126861903, LOC126861904, LOC126861905, LOC126861906, LOC126861907, LOC126861908, LOC126861909, LOC126861910, LOC126861911, LOC126861912, LOC126861913, LOC126861914, LOC126861915, LOC126861916, LOC126861917, LOC126861918, LOC126861919, LOC126861920, LOC126861921, LOC126861922, LOC126861923, LOC126861924, LOC126861925, LOC126861926, LOC126861927, LOC126861928, LOC126861929, LOC126861930, LOC126861931, LOC126861932, LOC126861933, LOC126861934, LOC126861935, LOC126861936, LOC126861937, LOC126861938, LOC126861939, LOC126861940, LOC126861941, LOC126861942, LOC126861943, LOC126861944, LOC126861945, LOC126861946, LOC126861947, LOC126861948, LOC126861949, LOC126861950, LOC126861951, LOC126861952, LOC126861953, LOC126861954, LOC126861955, LOC126861956, LOC126861957, LOC126861958, LOC126861959, LOC126861960, LOC126861961, LOC126861962, LOC126861963, LOC126861964, LOC126861965, LOC126861966, LOC126861967, LOC126861968, LOC126861969, LOC126861970, LOC126861971, LOC126861972, LOC126861973, LOC126861974, LOC126861975, LOC126861976, LOC126861977, LOC126861978, LOC126861979, LOC126861980, LOC126861981, LOC126861982, LOC126861983, LOC126861984, LOC126861985, LOC126861986, LOC126861987, LOC126861988, LOC126861989, LOC126861990, LOC126861991, LOC126861992, LOC126861993, LOC126861994, LOC126861995, LOC126861996, LOC126861997, LOC126861998, LOC126861999, LOC126862000, LOC126862001, LOC126862002, LOC126862003, LOC126862004, LOC126862005, LOC126862006, LOC126862007, LOC126862008, LOC126862009, LOC126862010, LOC126862011, LOC126862012, LOC126862013, LOC126862014, LOC126862015, LOC126862016, LOC126862017, LOC126862018, LOC126862019, LOC126862020, LOC126862021, LOC126862022, LOC126862023, LOC126862024, LOC126862025, LOC126862026, LOC126862027, LOC126862028, LOC126862029, LOC126862030, LOC126862031, LOC126862032, LOC126862033, LOC126862034, LOC126862035, LOC126862036, LOC126862037, LOC126862038, LOC126862039, LOC126862040, LOC126862041, LOC126862042, LOC126862043, LOC126862044, LOC126862045, LOC126862046, LOC126862047, LOC126862048, LOC126862049, LOC126862050, LOC126862051, LOC126862052, LOC126862053, LOC126862054, LOC126862055, LOC126862056, LOC126862057, LOC126862058, LOC126862059, LOC126862060, LOC126862061, LOC126862062, LOC126862063, LOC126862064, LOC126862065, LOC126862066, LOC126862067, LOC126862068, LOC126862069, LOC126862070, LOC126862071, LOC126862072, LOC126862073, LOC145474, LOC400212, LRFN5, LRP10, LRR1, LRRC74A, LRRC9, LTB4R, LTB4R2, LTBP2, LYSET, MAP3K9, MAP3K9-DT, MAP4K5, MAPK1IP1L, MARK3, MAX, MBIP, MDGA2, MDP1, MED6, MEG3, MEG8, MEG9, METTL17, METTL3, MGAT2, MHRT, MIA2, MIA2-AS1, MIDEAS, MIDEAS-AS1, MIPOL1, MIR1185-1, MIR1185-2, MIR1193, MIR1197, MIR12121, MIR1247, MIR1260A, MIR127, MIR134, MIR136, MIR151B, MIR154, MIR203A, MIR203B, MIR208A, MIR208B, MIR2392, MIR299, MIR300, MIR3171, MIR3171HG, MIR3173, MIR323A, MIR323B, MIR329-1, MIR329-2, MIR337, MIR342, MIR345, MIR369, MIR370, MIR376A1, MIR376A2, MIR376B, MIR376C, MIR377, MIR379, MIR380, MIR381, MIR381HG, MIR382, MIR409, MIR410, MIR411, MIR412, MIR4307, MIR4307HG, MIR4308, MIR4309, MIR431, MIR432, MIR433, MIR4503, MIR4504, MIR4505, MIR4506, MIR4507, MIR4537, MIR4538, MIR4539, MIR4706, MIR4707, MIR4708, MIR4709, MIR4710, MIR485, MIR487A, MIR487B, MIR493, MIR494, ARMH4, ASB2, ASPG, ATG14, ATG2B, ATL1, ATP5MJ, ATP6V1D, ATXN3, BAG5, BATF, BAZ1A, BAZ1A-AS1, BBOF1, BCL11B, BCL2L2, BCL2L2-PABPN1, BDKRB1, BDKRB2, BEGAIN, BMP4, BRF1, BRMS1L, BTBD6, BTBD7, C14orf119, C14orf132, C14orf178, C14orf180, C14orf28, C14orf39, C14orf93, CALM1, CARMIL3, CATSPERB, CBLN3, CCDC175, CCDC177, CCDC196, CCDC197, CCDC198, CCDC85C, CCDC88C, CCDC88C-DT, CCNB1IP1, CCNK, CDC42BPB, CDCA4, CDH24, CDKL1, CDKN3, CEBPE, CEP128, CEP170B, CFL2, CGRRF1, CHD8, CHGA, CHMP4A, CHURC1, CHURC1-FNTB, CIDEB, CINP, CIPC, CIROP, CKB, CLBA1, CLEC14A, CLMN, CMA1, CMTM5, CNIH1, COA8, COCH, COQ6, COX16, COX8C, CPNE6, CPSF2, CRIP1, CRIP2, CTSG, CYP46A1, DAAM1, DACT1, DAD1, DCAF11, DCAF4, DCAF5, DDHD1, DDHD1-DT, DDX24, DEGS2, DGLUCY, DHRS1, DHRS2, DHRS4, DHRS4-AS1, DHRS4L1, DHRS4L2, DHRS7, DICER1, DICER1-AS1, DIO2, DIO2-AS1, DIO3, DIO3OS, DLGAP5, DLK1, DLST, DMAC2L, DNAAF2, DNAL1, DPF3, DTD2, DYNC1H1, EAPP, EDDM3A, EDDM3B, EFCAB11, EFS, EGILA, EGLN3, EGLN3-AS1, EIF2B2, EIF2S1, EIF5, EIF5-DT, EMC9, EML1, EML5, ENTPD5, ERG28, ERH, ERO1A, ESR2, ESRRB, EVL, EXD2, EXOC3L4, EXOC5, FAM161B, FAM177A1, FAM181A, FAM181A-AS1, FAM30A, FANCM, FBLN5, FBXO33, FBXO34, FBXO34-AS1, FCF1, FERMT2, FITM1, FKBP3, FLRT2, FLRT2-AS1, FLVCR2, FLVCR2-AS1, FNTB, FOS, FOXA1, FOXG1, FOXG1-AS1, FOXN3, FOXN3-AS1, FOXN3-AS2, FRMD6, FRMD6-AS1, FRMD6-AS2, FSCB, FUT8, FUT8-AS1, G2E3, G2E3-AS1, GALC, GALNT16, GALNT16-AS1, GARIN2, GCH1, GEMIN2, GLRX5, GMFB, GMPR2, GNG2, GNPNAT1, GOLGA5, GON7, GPATCH2L, GPHB5, GPHN, GPR132, GPR135, GPR137C, GPR33, GPR65, GPR68, GPX2, GSC, GSC-DT, GSKIP, GSTZ1, GTF2A1, GTF2A1-AS1, GZMB, GZMH, HAUS4, HEATR4, HEATR5A, HEATR5A-DT, HECTD1, HHIPL1, HIF1A, HIF1A-AS1, HIF1A-AS2, HIF1A-AS3, HISLA, HNRNPC, HOMEZ, HSP90AA1, HSPA2, HSPA2-AS1, IFI27, IFI27L1, IFI27L2, IFT43, IGH, IGHA1, IGHA2, IGHD, IGHD1-1, IGHD1-14, IGHD1-20, IGHD1-26, IGHD1-7, IGHD2-15, IGHD2-2, IGHD2-21, IGHD2-8, IGHD3-10, IGHD3-16, IGHD3-22, IGHD3-3, IGHD3-9, IGHD4-11, IGHD4-17, IGHD4-23, IGHD4-4, IGHD5-12, IGHD5-18, IGHD5-24, IGHD5-5, IGHD6-13, IGHD6-19, IGHD6-25, IGHD6-6, IGHD7-27, IGHE, IGHG1, IGHG2, IGHG3, IGHG4, IGHJ1, IGHJ2, IGHJ3, IGHJ4, IGHJ5, IGHJ6, IGHM, IGHV1-18, IGHV1-2, IGHV1-24, IGHV1-3, IGHV1-45, IGHV1-46, IGHV1-58, IGHV1-69, IGHV1-69-2, IGHV1-69D, IGHV2-26, IGHV2-5, IGHV2-70, IGHV2-70D, IGHV3-11, IGHV3-13, IGHV3-15, IGHV3-16, IGHV3-20, IGHV3-21, IGHV3-23, IGHV3-30, IGHV3-33, IGHV3-35, IGHV3-38, IGHV3-43, IGHV3-48, IGHV3-49, IGHV3-53, IGHV3-64, IGHV3-64D, IGHV3-66, IGHV3-7, IGHV3-72, IGHV3-73, IGHV3-74, IGHV4-28, IGHV4-30-2, IGHV4-31, IGHV4-34, IGHV4-39, IGHV4-4, IGHV4-59, IGHV4-61, IGHV5-10-1, IGHV5-51, IGHV6-1, IGHV7-4-1, IL25, INF2, INSM2, IPO4, IRF2BPL, IRF9, ISCA2, ISM2, ITPK1, ITPK1-AS1, JAG2, JDP2, JDP2-AS1, JKAMP, JPH4, KCNH5, KCNK10, KCNK13, KHNYN, KIAA0586, KIF26A, KIF26A-DT, KLC1, KLHDC1, KLHDC2, KLHL28, KLHL33, KTN1, KTN1-AS1, L2HGDH, L3HYPDH, LBHD2, LGALS3, LGMN, LIN52, LINC00216, LINC00221, LINC00226, LINC00239, LINC00517, LINC00519, LINC00520, LINC00523, LINC00524, LINC00596, LINC00605, LINC00609, LINC00618, LINC00638, LINC00639, LINC00640, LINC00641, LINC00642, LINC00643, LINC00644, LINC00645, LINC00648, LINC00677, LINC00871, LINC00911, LINC01147, LINC01148, LINC01220, LINC01269, LINC01303, LINC01467, LINC01500, LINC01550, LINC01551, LINC01588, LINC01599, LINC01629, LINC02274, LINC02280, LINC02281, LINC02282, LINC02284, LINC02285, LINC02286, LINC02287, LINC02288, LINC02289, LINC02290, LINC02291, LINC02292, LINC02293, LINC02294, LINC02295, LINC02296, LINC02298, LINC02299, LINC02300, LINC02301, LINC02302, LINC02303, LINC02304, LINC02305, LINC02307, LINC02308, LINC02309, LINC02310, LINC02311, LINC02312, LINC02313, LINC02314, LINC02315, LINC02316, LINC02317, LINC02318, LINC02319, LINC02320, LINC02321, LINC02322, LINC02323, LINC02324, LINC02325, LINC02326, LINC02327, LINC02328, LINC02329, LINC02330, LINC02331, LINC02332, LINC02691, LINC02833, LINC02914, LINC03033, LOC100289511, LOC100506071, LOC100506321, LOC100506358, LOC100996664, LOC101927045, LOC101927178, LOC101927418, LOC101927690, LOC101927702, LOC101928143, LOC101928817, LOC101929107, LOC101929718, LOC102723604, LOC105370457, LOC105370473, LOC105370489, LOC105370525, LOC105370579, LOC105370586, LOC105370589, LOC105370616, LOC105370619, LOC105370622, LOC105370670, LOC105370689, LOC105370697, LOC105370705, LOC105378183, LOC106799836, LOC106799848, LOC106799849, LOC107372315, LOC107882126, LOC107984703, LOC108228206, LOC108251794, LOC108281111, LOC108281122, LOC108281128, LOC108281166, LOC108348026, LOC108663987, LOC109433677, LOC109433679, LOC110120856, LOC110120857, LOC110120874, LOC110120876, LOC110120895, LOC110120901, LOC110120902, LOC110120904, LOC110120910, LOC110120925, LOC110121319, LOC110121324, LOC110121325, LOC110121326, LOC110121327, LOC110121333, LOC110121354, LOC110121358, LOC110121362, LOC110121372, LOC110121376, LOC110121377, LOC110121391, LOC110121392, LOC110121404, LOC110121407, LOC110121412, LOC110121414, LOC110121422, LOC110121424, LOC110121431, LOC110121433, LOC110121447, LOC110121459, LOC110121463, LOC110121490, LOC110121504, LOC111365186, LOC111365187, LOC111365188, LOC111365217, LOC111365221, LOC111413013, LOC111413016, LOC111413041, LOC111500315, VRTN, VSX2, VTI1B, WARS1, WDHD1, WDR20, WDR25, WDR89, XRCC3, YLPM1, YY1, ZBTB1, ZBTB25, ZBTB42, ZC2HC1C, ZC3H14, ZDHHC22, ZFHX2, ZFP36L1, ZFYVE1, ZFYVE21, ZFYVE26, ZNF219, ZNF410, ZNF839, ABCD4, ABHD12B, ABHD4, ACIN1, ACOT1, ACOT2, ACOT4, ACOT6, ACTN1, ACTN1-DT, ACTR10, ACYP1, ADAM20, ADAM21, ADCK1, ADCY4, ADSS1, AHNAK2, AHSA1, AJUBA, AK7, AKAP5, AKAP6, AKT1, ALDH6A1, ALKBH1, AMN, ANG, ANGEL1, ANKRD9, AP1G2, AP1G2-AS1, AP4S1, AP5M1, APEX1, AREL1, ARF6, ARG2, ARHGAP5, ARHGAP5-AS1, ARHGEF40, ARID4A, MIR495, MIR496, MIR5195, MIR539, MIR541, MIR543, MIR544A, MIR548H1, MIR548Y, MIR5580, MIR5586, MIR5694, MIR6076, MIR624, MIR625, MIR654, MIR655, MIR656, MIR665, MIR668, MIR6717, MIR6764, MIR6765, MIR758, MIR770, MIR7703, MIR7843, MIR7855, MIR8071-1, MIR8071-2, MIR889, MIR9718, MIS18BP1, MLH3, MMP14, MNAT1, MOAP1, MOK, MRPL52, MTA1, MTA1-DT, MTHFD1, MYH6, MYH7, NAA30, NDRG2, NDUFB1, NEDD8, NEDD8-MDP1, NEK9, NEMF, NFATC4, NFKBIA, NGB, NGDN, NID2, NIN, NKX2-1, NKX2-1-AS1, NKX2-8, NOP9, NOVA1, NOVA1-DT, NOXRED1, NPAS3, NPC2, NRDE2, NRL, NRXN3, NUBPL, NUBPL-DT, NUDT14, NUMB, NYNRIN, OR10G2, OR10G3, OR11G2, OR11H4, OR11H6, OR11H7, OR4E1, OR4E2, OR5AU1, OR6J1, OR6S1, OSGEP, OTUB2, OTX2, OTX2-AS1, OXA1L, PABPN1, PACS2, PALS1, PAPLN, PAPLN-AS1, PAPOLA, PAPOLA-DT, PARP2, PAX9, PCK2, PCNX1, PCNX4, PCNX4-DT, PELI2, PGF, PIGH, PIP4P1, PLD4, PLEK2, PLEKHD1, PLEKHG3, PLEKHH1, PNMA1, PNN, PNP, POLE2, POMT2, PPM1A, PPP1R13B, PPP1R13B-DT, PPP1R36, PPP1R3E, PPP2R3C, PPP2R5C, PPP2R5E, PPP4R3A, PPP4R4, PRIMA1, PRKCH, PRKCH-AS1, PRKD1, PRMT5, PRMT5-AS1, PRMT5-DT, PRORP, PRORP-PSMA6, PROX2, PRPF39, PRPF39-DT, PSEN1, PSMA3, PSMA3-AS1, PSMA6, PSMB11, PSMB5, PSMC1, PSMC6, PSME1, PSME2, PTCSC3, PTGDR, PTGER2, PTGR2, PTPN21, PYGL, RAB15, RAB2B, RABGGTA, RAD51B, RALGAPA1, RBM23, RBM25, RBM25-AS1, RCOR1, RD3L, RDH11, RDH12, REC8, REM2, RGS6, RHOJ, RIN3, RIOX1, RIPK3, RN7SL1, RN7SL2, RN7SL3, RNASE1, RNASE10, RNASE11, RNASE11-AS1, RNASE12, RNASE13, RNASE2, RNASE3, RNASE4, RNASE6, RNASE7, RNASE8, RNASE9, RNF212B, RNF31, RNU6-7, RNU6-8, RPGRIP1, RPL10L, RPL36AL, RPPH1, RPS29, RPS6KA5, RPS6KL1, RTL1, RTN1, RTRAF, SALL2, SALRNA1, SAMD15, SAMD4A, SAMD4A-AS1, SAV1, SCARNA13, SCFD1, SDR39U1, SEC23A, SEC23A-AS1, SEL1L, SERPINA1, SERPINA10, SERPINA11, SERPINA12, SERPINA2, SERPINA3, SERPINA4, SERPINA5, SERPINA6, SERPINA9, SETD3, SFTA3, SGPP1, SIPA1L1, SIPA1L1-AS1, SIVA1, SIX1, SIX4, SIX6, SLC10A1, SLC22A17, SLC24A4, SLC25A21, SLC25A21-AS1, SLC25A29, SLC25A47, SLC35F4, SLC38A6, SLC39A2, SLC39A9, SLC7A7, SLC7A8, SLC8A3, SLIRP, SMOC1, SNAPC1, SNHG10, SNORA101B, SNORA11B, SNORA28, SNORA79, SNORA79B, SNORA89, SNORD112, SNORD113-1, SNORD113-2, SNORD113-3, SNORD113-4, SNORD113-5, SNORD113-6, SNORD113-7, SNORD113-8, SNORD113-9, SNORD114-1, SNORD114-10, SNORD114-11, SNORD114-12, SNORD114-13, SNORD114-14, SNORD114-15, SNORD114-16, SNORD114-17, SNORD114-18, SNORD114-19, SNORD114-2, SNORD114-20, SNORD114-21, SNORD114-22, SNORD114-23, SNORD114-24, SNORD114-25, SNORD114-26, SNORD114-27, SNORD114-28, SNORD114-29, SNORD114-3, SNORD114-30, SNORD114-31, SNORD114-4, SNORD114-5, SNORD114-6, SNORD114-7, SNORD114-8, SNORD114-9, SNORD126, SNORD127, SNORD169, SNORD3P3, SNORD56B, SNORD8, SNORD9, SNW1, SNX6, SOCS4, SOS2, SPATA7, SPTB, SPTLC2, SPTSSA, SRP54, SRP54-AS1, SRSF5, SSTR1, STON2, STRN3, STXBP6, STYX, SUPT16H, SUSD6, SYNDIG1L, SYNE2, SYNE3, SYNJ2BP, SYNJ2BP-COX16, SYT16, TBPL2, TC2N, TCL1A, TCL1B, TCL6, TDP1, TDRD9, TECPR2, TEDC1, TEP1, TEX22, TGFB3, TGM1, THTPA, TIMM9, TINF2, TM9SF1, TMED10, TMED8, TMEM121, TMEM179, TMEM229B, TMEM253, TMEM260, TMEM30B, TMEM63C, TMX1, TNFAIP2, TOGARAM1, TOMM20L, TOMM20L-DT, TOX4, TPPP2, TRA, TRA-AGC15-1, TRAC, TRAF3, TRAJ1, TRAJ10, TRAJ11, TRAJ12, TRAJ13, TRAJ14, TRAJ15, TRAJ16, TRAJ17, TRAJ18, TRAJ19, TRAJ2, TRAJ20, TRAJ21, TRAJ22, TRAJ23, TRAJ24, TRAJ25, TRAJ26, TRAJ27, TRAJ28, TRAJ29, TRAJ3, TRAJ30, TRAJ31, TRAJ32, TRAJ33, TRAJ34, TRAJ35, TRAJ36, TRAJ37, TRAJ38, TRAJ39, TRAJ4, TRAJ40, TRAJ41, TRAJ42, TRAJ43, TRAJ44, TRAJ45, TRAJ46, TRAJ47, TRAJ48, TRAJ49, TRAJ5, TRAJ50, TRAJ52, TRAJ53, TRAJ54, TRAJ56, TRAJ57, TRAJ58, TRAJ59, TRAJ6, TRAJ61, TRAJ7, TRAJ8, TRAJ9, TRAPPC6B, TRAV1-1, TRAV1-2, TRAV10, TRAV12-1, TRAV12-2, TRAV12-3, TRAV13-1, TRAV13-2, TRAV14DV4, TRAV16, TRAV17, TRAV18, TRAV19, TRAV2, TRAV20, TRAV21, TRAV22, TRAV23DV6, TRAV24, TRAV25, TRAV26-1, TRAV26-2, TRAV27, TRAV29DV5, TRAV3, TRAV30, TRAV34, TRAV35, TRAV36DV7, TRAV38-1, TRAV38-2DV8, TRAV39, TRAV4, TRAV40, TRAV41, TRAV5, TRAV6, TRAV7, TRAV8-1, TRAV8-2, TRAV8-3, TRAV8-4, TRAV8-6, TRAV8-7, TRAV9-1, TRAV9-2, TRC-GCA8-1, TRD, TRD-AS1, TRDC, TRDD1, TRDD2, TRDD3, TRDJ1, TRDJ2, TRDJ3, TRDJ4, TRDV1, TRDV2, TRDV3, TRI-AAT5-4, TRIM9, TRIP11, TRK-CTT1-1, TRL-AAG2-3, TRL-TAG2-1, TRMT5, TRMT61A, TRP-AGG2-5, TRP-AGG2-6, TRP-TGG1-1, TRP-TGG3-2, TRR-ACG1-3, TRT-TGT3-1, TRT-TGT4-1, TRT-TGT5-1, TRY-GTA4-1, TRY-GTA5-3, TRY-GTA5-4, TRY-GTA5-5, TRY-GTA7-1, TSHR, TSSK4, TTC5, TTC6, TTC7B, TTC7B-AS1, TTC8, TTC9, TTC9-DT, TTLL5, TUNAR, TXNDC16, UBR7, UNC79, VASH1, VASH1-AS1, VCPKMT, VIPAS39, VRK1
See casesPathogenic
(Jan 14, 2011)
no assertion criteria provided
3.
GRCh37:
Chr14:57507754-67674948
GRCh38:
Chr14:57041036-67208231
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
4.
GRCh37:
Chr14:60383769-67217521
GRCh38:
Chr14:59917051-66750803
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
5.
GRCh37:
Chr14:62719418-66220134
GRCh38:
Chr14:62252700-65753416
See casesPathogenic
(Mar 26, 2012)
no assertion criteria provided
6.
GRCh37:
Chr14:65419641-66762007
GRCh38:
Chr14:64952923-66295289
See casesUncertain significance
(Oct 14, 2010)
no assertion criteria provided
7.
GRCh37:
Chr14:65472874-65472875
GRCh38:
Chr14:65006156-65006157
CHURC1-FNTB, FNTB, LOC126861966, MAXnot providedBenign
(Aug 9, 2019)
criteria provided, single submitter
8.
GRCh37:
Chr14:65472874-65472875
GRCh38:
Chr14:65006156-65006157
CHURC1-FNTB, FNTB, LOC126861966, MAXnot providedBenign
(Aug 10, 2019)
criteria provided, single submitter
9.
GRCh37:
Chr14:65473007
GRCh38:
Chr14:65006289
CHURC1-FNTB, FNTB, LOC126861966, MAXHereditary cancer-predisposing syndromeLikely benign
(Nov 12, 2021)
criteria provided, single submitter
10.
GRCh37:
Chr14:65473196
GRCh38:
Chr14:65006478
CHURC1-FNTB, FNTB, MAXnot providedBenign
(Jun 15, 2018)
criteria provided, single submitter
11.
GRCh37:
Chr14:65479115
GRCh38:
Chr14:65012397
FNTB, CHURC1-FNTB, MAXnot specifiedBenign
(Aug 15, 2023)
criteria provided, single submitter
12.
GRCh37:
Chr14:65499312
GRCh38:
Chr14:65032594
CHURC1-FNTB, FNTB, MAXnot specifiedLikely benign
(Aug 15, 2023)
criteria provided, single submitter
13.
GRCh37:
Chr14:65541886
GRCh38:
Chr14:65075168
MAXPheochromocytomaUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
14.
GRCh37:
Chr14:65541909
GRCh38:
Chr14:65075191
MAXPheochromocytomaUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
15.
GRCh37:
Chr14:65541916
GRCh38:
Chr14:65075198
MAXPheochromocytomaUncertain significance
(Jan 12, 2018)
criteria provided, single submitter
16.
GRCh37:
Chr14:65541918
GRCh38:
Chr14:65075200
MAXPheochromocytomaUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
17.
GRCh37:
Chr14:65541965
GRCh38:
Chr14:65075247
MAXPheochromocytomaUncertain significance
(Jan 12, 2018)
criteria provided, single submitter
18.
GRCh37:
Chr14:65542067
GRCh38:
Chr14:65075349
MAXPheochromocytomaBenign
(Jun 14, 2016)
criteria provided, single submitter
19.
GRCh37:
Chr14:65542071
GRCh38:
Chr14:65075353
MAXPheochromocytomaBenign
(Jan 13, 2018)
criteria provided, single submitter
20.
GRCh37:
Chr14:65542159
GRCh38:
Chr14:65075441
MAXPheochromocytomaUncertain significance
(Jan 12, 2018)
criteria provided, single submitter
21.
GRCh37:
Chr14:65542171
GRCh38:
Chr14:65075453
MAXPheochromocytomaUncertain significance
(Jan 12, 2018)
criteria provided, single submitter
22.
GRCh37:
Chr14:65542251
GRCh38:
Chr14:65075533
MAXPheochromocytomaUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
23.
GRCh37:
Chr14:65542252
GRCh38:
Chr14:65075534
MAXPheochromocytomaUncertain significance
(Jan 12, 2018)
criteria provided, single submitter
24.
GRCh37:
Chr14:65542321
GRCh38:
Chr14:65075603
MAXPheochromocytomaUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
25.
GRCh37:
Chr14:65542477
GRCh38:
Chr14:65075759
MAXPheochromocytomaBenign
(Jun 14, 2016)
criteria provided, single submitter
26.
GRCh37:
Chr14:65542494
GRCh38:
Chr14:65075776
MAXPheochromocytomaBenign
(Jan 13, 2018)
criteria provided, single submitter
27.
GRCh37:
Chr14:65542516
GRCh38:
Chr14:65075798
MAXPheochromocytomaUncertain significance
(Jan 12, 2018)
criteria provided, single submitter
28.
GRCh37:
Chr14:65542578
GRCh38:
Chr14:65075860
MAXPheochromocytomaBenign
(Jan 13, 2018)
criteria provided, single submitter
29.
GRCh37:
Chr14:65542583-65542584
GRCh38:
Chr14:65075865-65075866
MAXPheochromocytomaUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
30.
GRCh37:
Chr14:65542591
GRCh38:
Chr14:65075873
MAXPheochromocytomaLikely benign
(Jun 14, 2016)
criteria provided, single submitter
31.
GRCh37:
Chr14:65542607
GRCh38:
Chr14:65075889
MAXPheochromocytomaBenign
(Jun 14, 2016)
criteria provided, single submitter
32.
GRCh37:
Chr14:65542629
GRCh38:
Chr14:65075911
MAXPheochromocytomaBenign
(Jun 14, 2016)
criteria provided, single submitter
33.
GRCh37:
Chr14:65542660
GRCh38:
Chr14:65075942
MAXPheochromocytomaUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
34.
GRCh37:
Chr14:65542691
GRCh38:
Chr14:65075973
MAXPheochromocytomaUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
35.
GRCh37:
Chr14:65542733
GRCh38:
Chr14:65076015
MAXPheochromocytomaBenign
(Jun 14, 2016)
criteria provided, single submitter
36.
GRCh37:
Chr14:65542789
GRCh38:
Chr14:65076071
MAXPheochromocytomaLikely benign
(Jun 14, 2016)
criteria provided, single submitter
37.
GRCh37:
Chr14:65542790
GRCh38:
Chr14:65076072
MAXPheochromocytomaBenign
(Jun 14, 2016)
criteria provided, single submitter
38.
GRCh37:
Chr14:65542819
GRCh38:
Chr14:65076101
MAXPheochromocytomaBenign
(Jan 12, 2018)
criteria provided, single submitter
39.
GRCh37:
Chr14:65542820
GRCh38:
Chr14:65076102
MAXnot providedUncertain significance
(Jul 7, 2021)
criteria provided, single submitter
40.
GRCh37:
Chr14:65542850
GRCh38:
Chr14:65076132
MAXPheochromocytomaBenign
(Jan 13, 2018)
criteria provided, single submitter
41.
GRCh37:
Chr14:65542874
GRCh38:
Chr14:65076156
MAXPheochromocytomaUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
42.
GRCh37:
Chr14:65542897
GRCh38:
Chr14:65076179
MAXPheochromocytomaBenign
(Jan 13, 2018)
criteria provided, single submitter
43.
GRCh37:
Chr14:65542946
GRCh38:
Chr14:65076228
MAXPheochromocytomaBenign
(Jan 13, 2018)
criteria provided, single submitter
44.
GRCh37:
Chr14:65543024
GRCh38:
Chr14:65076306
MAXPheochromocytomaUncertain significance
(Jan 12, 2018)
criteria provided, single submitter
45.
GRCh37:
Chr14:65543025
GRCh38:
Chr14:65076307
MAXPheochromocytomaUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
46.
GRCh37:
Chr14:65543050
GRCh38:
Chr14:65076332
MAXPheochromocytomaBenign
(Jan 13, 2018)
criteria provided, single submitter
47.
GRCh37:
Chr14:65543066
GRCh38:
Chr14:65076348
MAXPheochromocytomaBenign
(Jan 13, 2018)
criteria provided, single submitter
48.
GRCh37:
Chr14:65543098
GRCh38:
Chr14:65076380
MAXPheochromocytomaUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
49.
GRCh37:
Chr14:65543102
GRCh38:
Chr14:65076384
MAXnot provided, PheochromocytomaBenign
(Jun 24, 2018)
criteria provided, multiple submitters, no conflicts
50.
GRCh37:
Chr14:65543129
GRCh38:
Chr14:65076411
MAXPheochromocytomaBenign
(Jan 13, 2018)
criteria provided, single submitter
51.
GRCh37:
Chr14:65543150
GRCh38:
Chr14:65076432
MAXPheochromocytomaLikely benign
(Jan 13, 2018)
criteria provided, single submitter
52.
GRCh37:
Chr14:65543187
GRCh38:
Chr14:65076469
MAXnot specified, not provided, Pheochromocytoma
Benign/Likely benign
(Jun 3, 2023)
criteria provided, multiple submitters, no conflicts
53.
GRCh37:
Chr14:65543198
GRCh38:
Chr14:65076480
MAXS93I, S160I, S97I, S124I, S151IHereditary cancer-predisposing syndromeUncertain significance
(Mar 17, 2022)
criteria provided, single submitter
54.
GRCh37:
Chr14:65543199
GRCh38:
Chr14:65076481
MAXS151fs, S160fs, S97fsHereditary pheochromocytoma-paragangliomaUncertain significance
(Aug 22, 2022)
criteria provided, single submitter
55.
GRCh37:
Chr14:65543202
GRCh38:
Chr14:65076484
MAXA96T, A159T, A150T, A92T, A123THereditary cancer-predisposing syndrome, Hereditary pheochromocytoma-paragangliomaUncertain significance
(Feb 7, 2023)
criteria provided, multiple submitters, no conflicts
56.
GRCh37:
Chr14:65543204
GRCh38:
Chr14:65076486
MAXE149G, E91G, E158G, E122G, E95GHereditary pheochromocytoma-paragangliomaUncertain significance
(Feb 4, 2022)
criteria provided, single submitter
57.
GRCh37:
Chr14:65543210
GRCh38:
Chr14:65076492
MAXR156Q, R147Q, R93Q, R89Q, R120QHereditary cancer-predisposing syndrome, not provided, Hereditary pheochromocytoma-paraganglioma
Uncertain significance
(Oct 16, 2022)
criteria provided, multiple submitters, no conflicts
58.
GRCh37:
Chr14:65543211
GRCh38:
Chr14:65076493
MAXR120G, R147G, R156G, R89G, R93GHereditary cancer-predisposing syndromeUncertain significance
(Apr 21, 2022)
criteria provided, single submitter
59.
GRCh37:
Chr14:65543211
GRCh38:
Chr14:65076493
MAXR93W, R147W, R156W, R120W, R89WHereditary pheochromocytoma-paraganglioma, Hereditary cancer-predisposing syndrome, Pheochromocytoma
Uncertain significance
(May 19, 2023)
criteria provided, multiple submitters, no conflicts
60.
GRCh37:
Chr14:65543215
GRCh38:
Chr14:65076497
MAXHereditary pheochromocytoma-paraganglioma, Hereditary cancer-predisposing syndromeLikely benign
(Feb 16, 2023)
criteria provided, multiple submitters, no conflicts
61.
GRCh37:
Chr14:65543218
GRCh38:
Chr14:65076500
MAXHereditary pheochromocytoma-paragangliomaLikely benign
(Jan 26, 2022)
criteria provided, single submitter
62.
GRCh37:
Chr14:65543221
GRCh38:
Chr14:65076503
MAXR116S, R143S, R152S, R85S, R89Snot providedUncertain significance
(Jul 12, 2022)
criteria provided, single submitter
63.
GRCh37:
Chr14:65543221
GRCh38:
Chr14:65076503
MAXHereditary cancer-predisposing syndrome, Hereditary pheochromocytoma-paragangliomaLikely benign
(Mar 6, 2023)
criteria provided, multiple submitters, no conflicts
64.
GRCh37:
Chr14:65543223
GRCh38:
Chr14:65076505
MAXR152G, R85G, R116G, R143G, R89GHereditary cancer-predisposing syndromeUncertain significance
(Feb 10, 2023)
criteria provided, single submitter
65.
GRCh37:
Chr14:65543225
GRCh38:
Chr14:65076507
MAXS151N, S88N, S142N, S115N, S84NHereditary pheochromocytoma-paragangliomaUncertain significance
(Aug 14, 2021)
criteria provided, single submitter
66.
GRCh37:
Chr14:65543227
GRCh38:
Chr14:65076509
MAXHereditary pheochromocytoma-paraganglioma, Hereditary cancer-predisposing syndromeLikely benign
(Oct 14, 2022)
criteria provided, multiple submitters, no conflicts
67.
GRCh37:
Chr14:65543230
GRCh38:
Chr14:65076512
MAXHereditary cancer-predisposing syndromeLikely benign
(Dec 3, 2020)
criteria provided, single submitter
68.
GRCh37:
Chr14:65543233
GRCh38:
Chr14:65076515
MAXHereditary pheochromocytoma-paragangliomaLikely benign
(Feb 4, 2022)
criteria provided, single submitter
69.
GRCh37:
Chr14:65543234-65543235
GRCh38:
Chr14:65076516-65076517
MAXE139fs, E148fs, E85fsHereditary pheochromocytoma-paragangliomaUncertain significance
(Aug 12, 2021)
criteria provided, single submitter
70.
GRCh37:
Chr14:65543238
GRCh38:
Chr14:65076520
MAXE147K, E84K, E138K, E80K, E111KHereditary pheochromocytoma-paragangliomaUncertain significance
(Feb 25, 2022)
criteria provided, single submitter
71.
GRCh37:
Chr14:65543239
GRCh38:
Chr14:65076521
MAXHereditary pheochromocytoma-paragangliomaLikely benign
(Feb 25, 2022)
criteria provided, single submitter
72.
GRCh37:
Chr14:65543239
GRCh38:
Chr14:65076521
MAXHereditary pheochromocytoma-paraganglioma, Hereditary cancer-predisposing syndromeLikely benign
(Sep 9, 2021)
criteria provided, multiple submitters, no conflicts
73.
GRCh37:
Chr14:65543241
GRCh38:
Chr14:65076523
MAXP137S, P110S, P79S, P83S, P146SHereditary pheochromocytoma-paragangliomaUncertain significance
(Feb 3, 2022)
criteria provided, single submitter
74.
GRCh37:
Chr14:65543242
GRCh38:
Chr14:65076524
MAXnot specified, Hereditary cancer-predisposing syndrome, Hereditary pheochromocytoma-paraganglioma
Likely benign
(Jun 30, 2022)
criteria provided, multiple submitters, no conflicts
75.
GRCh37:
Chr14:65543245
GRCh38:
Chr14:65076527
MAXHereditary pheochromocytoma-paraganglioma, Hereditary cancer-predisposing syndromeLikely benign
(Feb 28, 2021)
criteria provided, multiple submitters, no conflicts
76.
GRCh37:
Chr14:65543245
GRCh38:
Chr14:65076527
MAXHereditary pheochromocytoma-paragangliomaLikely benign
(Jun 8, 2021)
criteria provided, single submitter
77.
GRCh37:
Chr14:65543245
GRCh38:
Chr14:65076527
MAXHereditary pheochromocytoma-paragangliomaLikely benign
(Aug 1, 2017)
criteria provided, single submitter
78.
GRCh37:
Chr14:65543247
GRCh38:
Chr14:65076529
MAXS135P, S77P, S81P, S108P, S144PHereditary cancer-predisposing syndromeUncertain significance
(Feb 18, 2022)
criteria provided, single submitter
79.
GRCh37:
Chr14:65543248
GRCh38:
Chr14:65076530
MAXHereditary pheochromocytoma-paragangliomaLikely benign
(Sep 27, 2022)
criteria provided, single submitter
80.
GRCh37:
Chr14:65543248
GRCh38:
Chr14:65076530
MAXE80D, E143D, E134D, E107D, E76Dnot specified, Hereditary pheochromocytoma-paragangliomaUncertain significance
(May 4, 2022)
criteria provided, multiple submitters, no conflicts
81.
GRCh37:
Chr14:65543251
GRCh38:
Chr14:65076533
MAXHereditary cancer-predisposing syndrome, Hereditary pheochromocytoma-paragangliomaLikely benign
(Oct 24, 2022)
criteria provided, multiple submitters, no conflicts
82.
GRCh37:
Chr14:65543252
GRCh38:
Chr14:65076534
MAXS142L, S79L, S133L, S106L, S75LHereditary pheochromocytoma-paraganglioma, Hereditary cancer-predisposing syndromeUncertain significance
(Oct 27, 2022)
criteria provided, multiple submitters, no conflicts
83.
GRCh37:
Chr14:65543255
GRCh38:
Chr14:65076537
MAXS132T, S141T, S78T, S74T, S105THereditary pheochromocytoma-paragangliomaUncertain significance
(Aug 5, 2022)
criteria provided, single submitter
84.
GRCh37:
Chr14:65543258
GRCh38:
Chr14:65076540
MAXS77C, S140C, S104C, S131C, S73CHereditary cancer-predisposing syndromeUncertain significance
(Jun 21, 2022)
criteria provided, single submitter
85.
GRCh37:
Chr14:65543260
GRCh38:
Chr14:65076542
MAXD76E, D130E, D139E, D103E, D72EHereditary cancer-predisposing syndrome, Hereditary pheochromocytoma-paragangliomaUncertain significance
(May 7, 2023)
criteria provided, multiple submitters, no conflicts
86.
GRCh37:
Chr14:65543261
GRCh38:
Chr14:65076543
MAXD139V, D76V, D130V, D103V, D72VHereditary pheochromocytoma-paragangliomaUncertain significance
(Sep 2, 2021)
criteria provided, single submitter
87.
GRCh37:
Chr14:65543262
GRCh38:
Chr14:65076544
MAXD139N, D76N, D130N, D72N, D103NHereditary cancer-predisposing syndrome, not provided, Hereditary pheochromocytoma-paraganglioma
Uncertain significance
(Jan 9, 2023)
criteria provided, multiple submitters, no conflicts
88.
GRCh37:
Chr14:65543263
GRCh38:
Chr14:65076545
MAXHereditary pheochromocytoma-paragangliomaLikely benign
(Feb 28, 2022)
criteria provided, single submitter
89.
GRCh37:
Chr14:65543263
GRCh38:
Chr14:65076545
MAXHereditary cancer-predisposing syndrome, Hereditary pheochromocytoma-paragangliomaLikely benign
(Oct 30, 2022)
criteria provided, multiple submitters, no conflicts
90.
GRCh37:
Chr14:65543264
GRCh38:
Chr14:65076546
MAXS129L, S138L, S75L, S71L, S102LHereditary cancer-predisposing syndrome, Hereditary pheochromocytoma-paragangliomaUncertain significance
(Sep 22, 2022)
criteria provided, multiple submitters, no conflicts
91.
GRCh37:
Chr14:65543267
GRCh38:
Chr14:65076549
MAXG128V, G70V, G101V, G137V, G74VHereditary cancer-predisposing syndromeUncertain significance
(Jul 23, 2021)
criteria provided, single submitter
92.
GRCh37:
Chr14:65543267
GRCh38:
Chr14:65076549
MAXG74fs, G128fs, G137fsHereditary pheochromocytoma-paragangliomaUncertain significance
(Oct 13, 2021)
criteria provided, single submitter
93.
GRCh37:
Chr14:65543267
GRCh38:
Chr14:65076549
MAXG137D, G128D, G74D, G101D, G70Dnot specified, Hereditary cancer-predisposing syndrome, not provided,
Hereditary pheochromocytoma-paraganglioma
Uncertain significance
(Oct 27, 2022)
criteria provided, multiple submitters, no conflicts
94.
GRCh37:
Chr14:65543268
GRCh38:
Chr14:65076550
MAXG101S, G70S, G128S, G74S, G137SHereditary cancer-predisposing syndromeUncertain significance
(Jan 30, 2020)
criteria provided, single submitter
95.
GRCh37:
Chr14:65543268
GRCh38:
Chr14:65076550
MAXG128R, G137R, G74R, G70R, G101RHereditary pheochromocytoma-paragangliomaUncertain significance
(Aug 28, 2021)
criteria provided, single submitter
96.
GRCh37:
Chr14:65543269
GRCh38:
Chr14:65076551
MAXHereditary cancer-predisposing syndrome, Hereditary pheochromocytoma-paragangliomaLikely benign
(Oct 31, 2022)
criteria provided, multiple submitters, no conflicts
97.
GRCh37:
Chr14:65543270
GRCh38:
Chr14:65076552
MAXG100E, G127E, G136E, G69E, G73EHereditary cancer-predisposing syndromeUncertain significance
(May 29, 2023)
criteria provided, single submitter
98.
GRCh37:
Chr14:65543271
GRCh38:
Chr14:65076553
MAXG136R, G127R, G73R, G69R, G100RHereditary cancer-predisposing syndrome, Hereditary pheochromocytoma-paragangliomaUncertain significance
(Sep 1, 2021)
criteria provided, multiple submitters, no conflicts
99.
GRCh37:
Chr14:65543271
GRCh38:
Chr14:65076553
MAXG136R, G127R, G73R, G100R, G69RHereditary cancer-predisposing syndrome, not provided, Pheochromocytoma,
Hereditary pheochromocytoma-paraganglioma
Conflicting interpretations of pathogenicity
(Jul 7, 2023)
criteria provided, conflicting interpretations
100.
GRCh37:
Chr14:65543272
GRCh38:
Chr14:65076554
MAXD72E, D126E, D135E, D68E, D99EHereditary pheochromocytoma-paragangliomaUncertain significance
(Nov 30, 2021)
criteria provided, single submitter
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