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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:
Chr14:39665376-57181179
GRCh38:
Chr14:39196172-56714461
DDHD1-DT, DLGAP5, DMAC2L, DNAAF2, ERO1A, FANCM, FBXO33, FBXO34, FBXO34-AS1, FERMT2, FKBP3, FRMD6, FRMD6-AS1, FRMD6-AS2, FSCB, GCH1, GMFB, GNG2, GNPNAT1, GPR137C, KLHDC1, KLHDC2, KLHL28, KTN1, KTN1-AS1, L2HGDH, LGALS3, LINC00519, LINC00520, LINC00640, LINC00648, LINC00871, LINC01588, LINC01599, LINC02284, LINC02302, LINC02303, LINC02307, LINC02310, LINC02315, LINC02319, LINC02331, LOC100506499, LOC101927418, LOC101927690, LOC102723604, LOC105370473, LOC105370489, LOC108228206, LOC108281122, LOC109433677, LOC109433679, LOC110121325, LOC110121362, LOC110121414, LOC111413016, LOC112268480, LOC112268481, LOC112268482, LOC112268483, LOC112268484, LOC112268485, LOC121468012, LOC121468013, LOC121468014, LOC121838591, LOC121838592, LOC125024475, LOC125024476, LOC125024477, LOC125024478, LOC125024479, LOC125024480, LOC125024481, LOC125024482, LOC125024483, LOC125024484, LOC125024485, LOC125024486, LOC125024487, LOC125024488, LOC125024489, LOC125024490, 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, LOC400212, LRFN5, LRR1, MAP4K5, MAPK1IP1L, MDGA2, MGAT2, MIA2, MIA2-AS1, MIR4308, MIR4504, MIR548Y, MIR5580, MIR6076, MIS18BP1, NEMF, NID2, NIN, PELI2, POLE2, PRPF39, PRPF39-DT, PSMC6, PTGDR, PTGER2, PYGL, RN7SL1, RN7SL2, RN7SL3, RPL10L, RPL36AL, RPS29, RTRAF, SAMD4A, SAMD4A-AS1, SAV1, SNORD127, SOCS4, SOS2, STYX, TBPL2, TMEM260, TMX1, TOGARAM1, TRIM9, TXNDC16, VCPKMT, WDHD1, ABHD12B, ARF6, ATG14, ATL1, BMP4, C14orf28, CDKL1, CDKN3, CGRRF1, CNIH1, DDHD1
See casesLikely pathogenic
(Nov 26, 2012)
no assertion criteria provided
4.
GRCh37:
Chr14:51057729-56753637
GRCh38:
Chr14:50591011-56286919
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
5.
GRCh37:
Chr14:52011564-55787316
GRCh38:
Chr14:51544846-55320598
See casesPathogenic
(Feb 16, 2011)
no assertion criteria provided
6.
GRCh37:
Chr14:54195768-54215968
GRCh38:
Chr14:53729050-53749250
BMP4, LINC02331Primary amenorrheaUncertain significance
(Jun 1, 2018)
criteria provided, single submitter
7.
GRCh37:
Chr14:54416438
GRCh38:
Chr14:53949720
BMP4not providedBenign
(Jun 26, 2018)
criteria provided, single submitter
8.
GRCh37:
Chr14:54416478
GRCh38:
Chr14:53949760
BMP4Cleft Lip +/- Cleft Palate, Autosomal Dominant, Orofacial cleft 11, Syndromic Microphthalmia, Dominant
Uncertain significance
(Jan 12, 2018)
criteria provided, single submitter
9.
GRCh37:
Chr14:54416496
GRCh38:
Chr14:53949778
BMP4Orofacial cleft 11Uncertain significance
(Jan 12, 2018)
criteria provided, single submitter
10.
GRCh37:
Chr14:54416499
GRCh38:
Chr14:53949781
BMP4Orofacial cleft, Microphthalmia with brain and digit anomalies, Orofacial cleft 11
Conflicting interpretations of pathogenicity
(Jan 13, 2018)
criteria provided, conflicting interpretations
11.
GRCh37:
Chr14:54416600
GRCh38:
Chr14:53949882
BMP4Cleft Lip +/- Cleft Palate, Autosomal Dominant, Syndromic Microphthalmia, Dominant, BMP4-Related Syndromic Microphthalmia,
Orofacial cleft
Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
12.
GRCh37:
Chr14:54416601
GRCh38:
Chr14:53949883
BMP4Orofacial cleft, Syndromic Microphthalmia, Dominant, Orofacial cleft 11
Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
13.
GRCh37:
Chr14:54416601-54416602
GRCh38:
Chr14:53949883-53949884
BMP4Cleft Lip +/- Cleft Palate, Autosomal Dominant, not provided, Syndromic Microphthalmia, Dominant,
BMP4-Related Syndromic Microphthalmia, Orofacial cleft
Conflicting interpretations of pathogenicity
(Sep 2, 2019)
criteria provided, conflicting interpretations
14.
GRCh37:
Chr14:54416601-54416602
GRCh38:
Chr14:53949883-53949884
BMP4Cleft Lip +/- Cleft Palate, Autosomal Dominant, Syndromic Microphthalmia, Dominant, BMP4-Related Syndromic Microphthalmia,
Orofacial cleft
Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
15.
GRCh37:
Chr14:54416601-54416602
GRCh38:
Chr14:53949883-53949884
BMP4Cleft Lip +/- Cleft Palate, Autosomal Dominant, Syndromic Microphthalmia, Dominant, BMP4-Related Syndromic Microphthalmia,
not provided, Orofacial cleft
Conflicting interpretations of pathogenicity
(Aug 15, 2019)
criteria provided, conflicting interpretations
16.
GRCh37:
Chr14:54416601-54416602
GRCh38:
Chr14:53949883-53949884
BMP4Cleft Lip +/- Cleft Palate, Autosomal Dominant, not provided, Syndromic Microphthalmia, Dominant,
BMP4-Related Syndromic Microphthalmia, Orofacial cleft
Conflicting interpretations of pathogenicity
(Aug 21, 2019)
criteria provided, conflicting interpretations
17.
GRCh37:
Chr14:54416601-54416605
GRCh38:
Chr14:53949883-53949887
BMP4Cleft Lip +/- Cleft Palate, Autosomal Dominant, Orofacial cleft, Syndromic Microphthalmia, Dominant,
BMP4-Related Syndromic Microphthalmia
Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
18.
GRCh37:
Chr14:54416601-54416602
GRCh38:
Chr14:53949883-53949884
BMP4Cleft Lip +/- Cleft Palate, Autosomal Dominant, not provided, Syndromic Microphthalmia, Dominant,
BMP4-Related Syndromic Microphthalmia, Orofacial cleft
Conflicting interpretations of pathogenicity
(Aug 15, 2019)
criteria provided, conflicting interpretations
19.
GRCh37:
Chr14:54416601-54416602
GRCh38:
Chr14:53949883-53949884
BMP4Cleft Lip +/- Cleft Palate, Autosomal Dominant, not provided, Orofacial cleft,
Syndromic Microphthalmia, Dominant, BMP4-Related Syndromic Microphthalmia
Conflicting interpretations of pathogenicity
(Aug 18, 2019)
criteria provided, conflicting interpretations
20.
GRCh37:
Chr14:54416602
GRCh38:
Chr14:53949884
BMP4not providedLikely benign
(Sep 6, 2019)
criteria provided, single submitter
21.
GRCh37:
Chr14:54416602
GRCh38:
Chr14:53949884
BMP4Cleft Lip +/- Cleft Palate, Autosomal Dominant, Microphthalmia with brain and digit anomalies, Orofacial cleft 11
Benign/Likely benign
(Jan 12, 2018)
criteria provided, single submitter
22.
GRCh37:
Chr14:54416607
GRCh38:
Chr14:53949889
BMP4Cleft Lip +/- Cleft Palate, Autosomal Dominant, Orofacial cleft 11, Syndromic Microphthalmia, Dominant
Uncertain significance
(Jan 12, 2018)
criteria provided, single submitter
23.
GRCh37:
Chr14:54416619
GRCh38:
Chr14:53949901
BMP4Cleft Lip +/- Cleft Palate, Autosomal Dominant, Orofacial cleft 11, Syndromic Microphthalmia, Dominant
Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
24.
GRCh37:
Chr14:54416662
GRCh38:
Chr14:53949944
BMP4Cleft Lip +/- Cleft Palate, Autosomal Dominant, Microphthalmia with brain and digit anomalies, not provided,
Orofacial cleft 11
Benign/Likely benign
(Sep 2, 2019)
criteria provided, multiple submitters, no conflicts
25.
GRCh37:
Chr14:54416715
GRCh38:
Chr14:53949997
BMP4Cleft Lip +/- Cleft Palate, Autosomal Dominant, Orofacial cleft 11, Syndromic Microphthalmia, Dominant
Uncertain significance
(Jan 12, 2018)
criteria provided, single submitter
26.
GRCh37:
Chr14:54416719
GRCh38:
Chr14:53950001
BMP4Orofacial cleft 11, Microphthalmia with brain and digit anomaliesConflicting interpretations of pathogenicity
(Jan 13, 2018)
criteria provided, conflicting interpretations
27.
GRCh37:
Chr14:54416722
GRCh38:
Chr14:53950004
BMP4Orofacial cleft 11, Microphthalmia with brain and digit anomaliesBenign/Likely benign
(Jan 13, 2018)
criteria provided, single submitter
28.
GRCh37:
Chr14:54416754
GRCh38:
Chr14:53950036
BMP4R345H, R408H, R455HMicrophthalmia with brain and digit anomalies, Orofacial cleft 11, Inborn genetic diseases
Uncertain significance
(Jul 20, 2022)
criteria provided, multiple submitters, no conflicts
29.
GRCh37:
Chr14:54416768
GRCh38:
Chr14:53950050
BMP4Microphthalmia with brain and digit anomalies, Orofacial cleft 11Likely benign
(Jul 9, 2022)
criteria provided, single submitter
30.
GRCh37:
Chr14:54416798
GRCh38:
Chr14:53950080
BMP4Microphthalmia with brain and digit anomalies, Orofacial cleft 11Likely benign
(Dec 2, 2021)
criteria provided, single submitter
31.
GRCh37:
Chr14:54416806
GRCh38:
Chr14:53950088
BMP4K328E, K391E, K438EInborn genetic diseasesUncertain significance
(Jul 13, 2022)
criteria provided, single submitter
32.
GRCh37:
Chr14:54416859
GRCh38:
Chr14:53950141
BMP4C310Y, C373Y, C420YIrido-corneo-trabecular dysgenesisLikely pathogenic
(Oct 15, 2022)
criteria provided, single submitter
33.
GRCh37:
Chr14:54416878
GRCh38:
Chr14:53950160
BMP4S304R, S367R, S414RInborn genetic diseasesUncertain significance
(Jan 31, 2022)
criteria provided, single submitter
34.
GRCh37:
Chr14:54416889
GRCh38:
Chr14:53950171
BMP4S363F, S300F, S410FInborn genetic diseasesUncertain significance
(Mar 29, 2023)
criteria provided, single submitter
35.
GRCh37:
Chr14:54416892
GRCh38:
Chr14:53950174
BMP4N362S, N409S, N299SMicrophthalmia with brain and digit anomalies, Orofacial cleft 11Uncertain significance
(Jul 6, 2022)
criteria provided, single submitter
36.
GRCh37:
Chr14:54416901
GRCh38:
Chr14:53950183
BMP4T406I, T296I, T359IMicrophthalmia with brain and digit anomalies, Orofacial cleft 11Uncertain significance
(Apr 7, 2022)
criteria provided, single submitter
37.
GRCh37:
Chr14:54416935
GRCh38:
Chr14:53950217
BMP4H395Y, H285Y, H348YMicrophthalmia with brain and digit anomalies, Orofacial cleft 11Uncertain significance
(Jul 2, 2022)
criteria provided, single submitter
38.
GRCh37:
Chr14:54416940
GRCh38:
Chr14:53950222
BMP4A346V, A283V, A393VOrofacial cleft 11Pathogenic
(Mar 1, 2009)
no assertion criteria provided
39.
GRCh37:
Chr14:54416945
GRCh38:
Chr14:53950227
BMP4Orofacial cleft 11, Microphthalmia with brain and digit anomaliesLikely benign
(Aug 23, 2022)
criteria provided, single submitter
40.
GRCh37:
Chr14:54416976
GRCh38:
Chr14:53950258
BMP4A271D, A334D, A381Dnot providedUncertain significanceno assertion criteria provided
41.
GRCh37:
Chr14:54416998
GRCh38:
Chr14:53950280
BMP4V264L, V374L, V327LOrofacial cleft 11, Microphthalmia with brain and digit anomaliesUncertain significance
(Oct 13, 2022)
criteria provided, single submitter
42.
GRCh37:
Chr14:54416998
GRCh38:
Chr14:53950280
BMP4V264M, V374M, V327MMicrophthalmia with brain and digit anomalies, Orofacial cleft 11Uncertain significance
(Oct 17, 2022)
criteria provided, single submitter
43.
GRCh37:
Chr14:54417042
GRCh38:
Chr14:53950324
BMP4S249L, S312L, S359LMicrophthalmia with brain and digit anomalies, Orofacial cleft 11Uncertain significance
(Aug 27, 2022)
criteria provided, multiple submitters, no conflicts
44.
GRCh37:
Chr14:54417049
GRCh38:
Chr14:53950331
BMP4R247C, R310C, R357Cnot providedUncertain significance
(Aug 13, 2019)
criteria provided, single submitter
45.
GRCh37:
Chr14:54417079
GRCh38:
Chr14:53950361
BMP4R300W, R237W, R347WOrofacial cleft 11, Microphthalmia with brain and digit anomalies, not provided
Conflicting interpretations of pathogenicity
(Jul 6, 2022)
criteria provided, conflicting interpretations
46.
GRCh37:
Chr14:54417098-54417112
GRCh38:
Chr14:53950380-53950394
BMP4R289fs, R226fs, R336fsOrofacial cleft 11, Microphthalmia with brain and digit anomaliesUncertain significance
(Jul 25, 2022)
criteria provided, single submitter
47.
GRCh37:
Chr14:54417114
GRCh38:
Chr14:53950396
BMP4R225Q, R288Q, R335QMicrophthalmia with brain and digit anomalies, Orofacial cleft 11, not provided
Uncertain significance
(Oct 4, 2022)
criteria provided, multiple submitters, no conflicts
48.
GRCh37:
Chr14:54417115
GRCh38:
Chr14:53950397
BMP4R288W, R335W, R225WMicrophthalmia with brain and digit anomalies, Orofacial cleft 11Uncertain significance
(May 11, 2022)
criteria provided, single submitter
49.
GRCh37:
Chr14:54417117
GRCh38:
Chr14:53950399
BMP4R287H, R334H, R224HMicrophthalmia with brain and digit anomalies, Orofacial cleft 11, Orofacial cleft 11,
Microphthalmia with brain and digit anomalies
Benign/Likely benign
(Oct 14, 2022)
criteria provided, multiple submitters, no conflicts
50.
GRCh37:
Chr14:54417118
GRCh38:
Chr14:53950400
BMP4R287C, R224C, R334CMicrophthalmia with brain and digit anomalies, Orofacial cleft 11Uncertain significance
(Mar 23, 2022)
criteria provided, single submitter
51.
GRCh37:
Chr14:54417120
GRCh38:
Chr14:53950402
BMP4R223Q, R286Q, R333QInborn genetic diseases, Microphthalmia with brain and digit anomalies, Orofacial cleft 11
Uncertain significance
(Aug 16, 2022)
criteria provided, multiple submitters, no conflicts
52.
GRCh37:
Chr14:54417138
GRCh38:
Chr14:53950420
BMP4R217Q, R280Q, R327QOrofacial cleft 11, Microphthalmia with brain and digit anomaliesUncertain significance
(Jun 9, 2022)
criteria provided, single submitter
53.
GRCh37:
Chr14:54417138
GRCh38:
Chr14:53950420
BMP4R280P, R217P, R327PBMP4-Related Syndromic MicrophthalmiaUncertain significance
(Apr 27, 2019)
criteria provided, single submitter
54.
GRCh37:
Chr14:54417139
GRCh38:
Chr14:53950421
BMP4R217W, R280W, R327WOrofacial cleft 11, Microphthalmia with brain and digit anomaliesUncertain significance
(Jul 23, 2022)
criteria provided, single submitter
55.
GRCh37:
Chr14:54417159
GRCh38:
Chr14:53950441
BMP4V210A, V273A, V320Anot providedUncertain significance
(Apr 15, 2019)
criteria provided, single submitter
56.
GRCh37:
Chr14:54417164
GRCh38:
Chr14:53950446
BMP4Microphthalmia with brain and digit anomalies, Orofacial cleft 11Likely benign
(Aug 22, 2022)
criteria provided, single submitter
57.
GRCh37:
Chr14:54417167
GRCh38:
Chr14:53950449
BMP4Microphthalmia with brain and digit anomalies, Orofacial cleft 11Likely benign
(Jun 7, 2022)
criteria provided, single submitter
58.
GRCh37:
Chr14:54417171
GRCh38:
Chr14:53950453
BMP4R316Q, R206Q, R269QMicrophthalmia with brain and digit anomalies, Orofacial cleft 11Likely benign
(Aug 16, 2022)
criteria provided, single submitter
59.
GRCh37:
Chr14:54417211
GRCh38:
Chr14:53950493
BMP4R193*, R256*, R303*not providedLikely pathogenic
(Dec 15, 2021)
criteria provided, single submitter
60.
GRCh37:
Chr14:54417224
GRCh38:
Chr14:53950506
BMP4Orofacial cleft 11, Microphthalmia with brain and digit anomalies, Orofacial cleft 11
Conflicting interpretations of pathogenicity
(Sep 5, 2022)
criteria provided, conflicting interpretations
61.
GRCh37:
Chr14:54417226
GRCh38:
Chr14:53950508
BMP4H251Y, H188Y, H298YMicrophthalmia with brain and digit anomalies, Microphthalmia with brain and digit anomalies, Orofacial cleft 11
Conflicting interpretations of pathogenicity
(Aug 6, 2020)
criteria provided, conflicting interpretations
62.
GRCh37:
Chr14:54417243
GRCh38:
Chr14:53950525
BMP4R182Q, R245Q, R292QMicrophthalmia with brain and digit anomaliesUncertain significance
(Dec 16, 2022)
criteria provided, single submitter
63.
GRCh37:
Chr14:54417244
GRCh38:
Chr14:53950526
BMP4R182W, R245W, R292Wnot specified, not providedUncertain significance
(Sep 14, 2022)
criteria provided, multiple submitters, no conflicts
64.
GRCh37:
Chr14:54417246
GRCh38:
Chr14:53950528
BMP4T244I, T181I, T291IOrofacial cleft 11, Microphthalmia with brain and digit anomaliesLikely benign
(Feb 6, 2022)
criteria provided, single submitter
65.
GRCh37:
Chr14:54417294
GRCh38:
Chr14:53950576
BMP4K165R, K228R, K275Rnot providedUncertain significance
(Jul 25, 2022)
criteria provided, single submitter
66.
GRCh37:
Chr14:54417300
GRCh38:
Chr14:53950582
BMP4R163Q, R226Q, R273QMicrophthalmia with brain and digit anomalies, Orofacial cleft 11, not provided
Conflicting interpretations of pathogenicity
(Jun 9, 2022)
criteria provided, conflicting interpretations
67.
GRCh37:
Chr14:54417301
GRCh38:
Chr14:53950583
BMP4R226W, R273W, R163Wnot provided, Orofacial cleft 11, Microphthalmia with brain and digit anomalies,
Microphthalmia with brain and digit anomalies, Orofacial cleft 11
Conflicting interpretations of pathogenicity
(Oct 28, 2022)
criteria provided, conflicting interpretations
68.
GRCh37:
Chr14:54417304
GRCh38:
Chr14:53950586
BMP4T272A, T162A, T225AOrofacial cleft 11, Microphthalmia with brain and digit anomalies, Microphthalmia with brain and digit anomalies
Conflicting interpretations of pathogenicity
(Oct 9, 2022)
criteria provided, conflicting interpretations
69.
GRCh37:
Chr14:54417306
GRCh38:
Chr14:53950588
BMP4W271*, W224*, W161*Orofacial cleft 11, Microphthalmia with brain and digit anomaliesUncertain significance
(Oct 12, 2022)
criteria provided, single submitter
70.
GRCh37:
Chr14:54417309
GRCh38:
Chr14:53950591
BMP4R270H, R160H, R223HMicrophthalmia with brain and digit anomalies, Orofacial cleft 11Uncertain significance
(May 28, 2022)
criteria provided, multiple submitters, no conflicts
71.
GRCh37:
Chr14:54417310
GRCh38:
Chr14:53950592
BMP4R223C, R270C, R160CMicrophthalmia with brain and digit anomalies, Orofacial cleft 11Uncertain significance
(Mar 23, 2022)
criteria provided, single submitter
72.
GRCh37:
Chr14:54417311
GRCh38:
Chr14:53950593
BMP4R160fs, R223fs, R270fsSee casesLikely pathogenic
(Apr 26, 2021)
criteria provided, single submitter
73.
GRCh37:
Chr14:54417342
GRCh38:
Chr14:53950624
BMP4W149*, W212*, W259*not providedLikely pathogenic
(Nov 1, 2019)
criteria provided, single submitter
74.
GRCh37:
Chr14:54417345
GRCh38:
Chr14:53950627
BMP4R148Q, R211Q, R258QOrofacial cleft 11, Microphthalmia with brain and digit anomalies, Inborn genetic diseases
Uncertain significance
(May 9, 2023)
criteria provided, multiple submitters, no conflicts
75.
GRCh37:
Chr14:54417353
GRCh38:
Chr14:53950635
BMP4Microphthalmia with brain and digit anomalies, Orofacial cleft 11Likely benign
(Oct 17, 2022)
criteria provided, single submitter
76.
GRCh37:
Chr14:54417363
GRCh38:
Chr14:53950645
BMP4V205A, V142A, V252ALow bone mineral density, Tooth agenesisUncertain significance
(Jun 6, 2018)
no assertion criteria provided
77.
GRCh37:
Chr14:54417372
GRCh38:
Chr14:53950654
BMP4T202M, T139M, T249MOrofacial cleft 11, Microphthalmia with brain and digit anomaliesUncertain significance
(Sep 27, 2022)
criteria provided, single submitter
78.
GRCh37:
Chr14:54417384
GRCh38:
Chr14:53950666
BMP4R135Q, R198Q, R245QInborn genetic diseasesUncertain significance
(Mar 31, 2022)
criteria provided, single submitter
79.
GRCh37:
Chr14:54417385
GRCh38:
Chr14:53950667
BMP4R198*, R245*, R135*Inborn genetic diseasesPathogenic
(Oct 1, 2018)
criteria provided, single submitter
80.
GRCh37:
Chr14:54417395
GRCh38:
Chr14:53950677
BMP4not providedLikely benign
(May 15, 2018)
criteria provided, single submitter
81.
GRCh37:
Chr14:54417409
GRCh38:
Chr14:53950691
BMP4V190M, V127M, V237MMicrophthalmia with brain and digit anomalies, Orofacial cleft 11Uncertain significance
(Aug 16, 2021)
criteria provided, single submitter
82.
GRCh37:
Chr14:54417465
GRCh38:
Chr14:53950747
BMP4W171*, W218*, W108*not providedUncertain significance
(Mar 27, 2017)
criteria provided, single submitter
83.
GRCh37:
Chr14:54417467
GRCh38:
Chr14:53950749
BMP4Microphthalmia with brain and digit anomalies, Orofacial cleft 11Likely benign
(Dec 2, 2021)
criteria provided, single submitter
84.
GRCh37:
Chr14:54417475
GRCh38:
Chr14:53950757
BMP4G168R, G215R, G105RMicrophthalmia with brain and digit anomalies, Orofacial cleft 11, not specified
Conflicting interpretations of pathogenicity
(Dec 31, 2019)
criteria provided, conflicting interpretations
85.
GRCh37:
Chr14:54417481
GRCh38:
Chr14:53950763
BMP4D166N, D213N, D103NInborn genetic diseasesUncertain significance
(Jan 5, 2022)
criteria provided, single submitter
86.
GRCh37:
Chr14:54417492
GRCh38:
Chr14:53950774
BMP4R162Q, R209Q, R99QMicrophthalmia with brain and digit anomalies, Orofacial cleft 11, not specified
Conflicting interpretations of pathogenicity
(Jun 23, 2022)
criteria provided, conflicting interpretations
87.
GRCh37:
Chr14:54417493
GRCh38:
Chr14:53950775
BMP4R162W, R209W, R99WOrofacial cleft 11, Microphthalmia with brain and digit anomaliesUncertain significance
(Mar 18, 2022)
criteria provided, single submitter
88.
GRCh37:
Chr14:54417496
GRCh38:
Chr14:53950778
BMP4F98L, F161L, F208LMicrophthalmia with brain and digit anomalies, Orofacial cleft 11Uncertain significance
(Oct 13, 2022)
criteria provided, single submitter
89.
GRCh37:
Chr14:54417501
GRCh38:
Chr14:53950783
BMP4R96Q, R206Q, R159QMicrophthalmia with brain and digit anomalies, Orofacial cleft 11Uncertain significance
(Apr 17, 2022)
criteria provided, single submitter
90.
GRCh37:
Chr14:54417502
GRCh38:
Chr14:53950784
BMP4R96W, R159W, R206WMicrophthalmia with brain and digit anomalies, Orofacial cleft 11Uncertain significance
(Aug 7, 2021)
criteria provided, single submitter
91.
GRCh37:
Chr14:54417522
GRCh38:
Chr14:53950804
BMP4V152A, V89A, V199ACleft Lip +/- Cleft Palate, Autosomal Dominant, Microphthalmia with brain and digit anomalies, Orofacial cleft 11,
not provided, not specified, Orofacial cleft 11,
Microphthalmia with brain and digit anomalies
Benign/Likely benign
(Oct 30, 2022)
criteria provided, multiple submitters, no conflicts
92.
GRCh37:
Chr14:54417526
GRCh38:
Chr14:53950808
BMP4E198K, E151K, E88KMicrophthalmia with brain and digit anomalies, Orofacial cleft 11Uncertain significance
(May 26, 2022)
criteria provided, single submitter
93.
GRCh37:
Chr14:54417527
GRCh38:
Chr14:53950809
BMP4Microphthalmia with brain and digit anomalies, Orofacial cleft 11Benign
(Mar 20, 2022)
criteria provided, single submitter
94.
GRCh37:
Chr14:54417527
GRCh38:
Chr14:53950809
BMP4N150K, N197K, N87Knot providedUncertain significance
(Sep 16, 2018)
no assertion criteria provided
95.
GRCh37:
Chr14:54417535
GRCh38:
Chr14:53950817
BMP4P148S, P85S, P195SOrofacial cleft 11, Microphthalmia with brain and digit anomaliesUncertain significance
(Jul 21, 2022)
criteria provided, single submitter
96.
GRCh37:
Chr14:54417541
GRCh38:
Chr14:53950823
BMP4S146G, S83G, S193GMicrophthalmia with brain and digit anomalies, Orofacial cleft 11Uncertain significance
(Dec 2, 2021)
criteria provided, single submitter
97.
GRCh37:
Chr14:54417547
GRCh38:
Chr14:53950829
BMP4L144V, L191V, L81VMicrophthalmia with brain and digit anomalies, Orofacial cleft 11Uncertain significance
(Mar 29, 2022)
criteria provided, single submitter
98.
GRCh37:
Chr14:54417551
GRCh38:
Chr14:53950833
BMP4F79L, F142L, F189LMicrophthalmia with brain and digit anomalies, Orofacial cleft 11Uncertain significance
(Sep 1, 2021)
criteria provided, single submitter
99.
GRCh37:
Chr14:54417561
GRCh38:
Chr14:53950843
BMP4R76L, R139L, R186LOrofacial cleft 11, Microphthalmia with brain and digit anomaliesUncertain significance
(Jan 15, 2022)
criteria provided, single submitter
100.
GRCh37:
Chr14:54417561
GRCh38:
Chr14:53950843
BMP4R186H, R139H, R76HMicrophthalmia with brain and digit anomalies, Orofacial cleft 11Uncertain significance
(Aug 24, 2022)
criteria provided, single submitter
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