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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:
Chr14:70028816-82441728
GRCh38:
Chr14:69562099-81975384
SNORA79, SNORD169, SNORD56B, SNW1, SPTLC2, SRSF5, STON2, SUSD6, SYNDIG1L, SYNJ2BP, SYNJ2BP-COX16, TGFB3, TMED10, TMED8, TMEM63C, TRC-GCA8-1, TSHR, TTC9, TTC9-DT, TTLL5, VASH1, VASH1-AS1, VIPAS39, VRTN, VSX2, YLPM1, ZC2HC1C, ZDHHC22, ZFYVE1, ZNF410, ABCD4, ACOT1, ACOT2, ACOT4, ACOT6, ACYP1, ADAM20, ADAM21, ADCK1, AHSA1, ALDH6A1, ALKBH1, ANGEL1, AREL1, BATF, BBOF1, C14orf178, CCDC177, CEP128, CIPC, COQ6, COX16, DCAF4, DIO2, DIO2-AS1, DLST, DNAL1, DPF3, EIF2B2, ENTPD5, ERG28, ESRRB, FAM161B, FCF1, FLVCR2, FLVCR2-AS1, FOS, GPATCH2L, GSTZ1, GTF2A1, GTF2A1-AS1, HEATR4, IFT43, IRF2BPL, ISCA2, ISM2, JDP2, JDP2-AS1, LIN52, LINC01220, LINC01269, LINC01467, LINC01629, LINC02274, LINC02288, LINC02289, LINC02308, LINC02311, LOC100289511, LOC100506358, LOC101928143, LOC105370579, LOC105370586, LOC105370589, LOC108251794, LOC110121354, LOC110121372, LOC110121376, LOC110121422, LOC110121459, LOC110121490, LOC111413013, LOC111556149, LOC111591503, LOC111811966, LOC111822947, LOC112272553, LOC112272554, LOC112272555, LOC112272556, LOC112272557, LOC112272558, LOC112272559, LOC112272560, LOC113939940, LOC116268459, LOC121529652, LOC121529653, LOC121838597, LOC121838598, LOC125048430, LOC125048431, LOC125048432, LOC125048433, LOC125048434, LOC125048435, LOC125048436, LOC125048437, LOC125048439, LOC125048440, LOC125048441, LOC125048442, LOC125048444, LOC125048445, LOC125048446, LOC125048447, LOC125048449, LOC125048450, LOC125048451, LOC125048452, LOC125048453, 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, LOC145474, LRRC74A, LTBP2, MAP3K9, MAP3K9-DT, MED6, MIDEAS, MIDEAS-AS1, MIR1260A, MIR4505, MIR4709, MIR7843, MLH3, NEK9, NGB, NOXRED1, NPC2, NRXN3, NUMB, PAPLN, PAPLN-AS1, PCNX1, PGF, PNMA1, POMT2, PROX2, PSEN1, PTGR2, RBM25, RBM25-AS1, RGS6, RIOX1, RPS6KL1, SAMD15, SEL1L, SIPA1L1, SIPA1L1-AS1, SLC10A1, SLC8A3, SLIRP, SMOC1
See casesPathogenic
(Aug 19, 2010)
no assertion criteria provided
4.
GRCh37:
Chr14:73809921-79301402
GRCh38:
Chr14:73343213-78835059
See casesLikely pathogenic
(Apr 4, 2013)
no assertion criteria provided
5.
GRCh37:
Chr14:74122475-107287505
GRCh38:
Chr14:73655772-106879298
MIR1247, MIR1260A, MIR127, MIR134, MIR136, MIR151B, MIR154, MIR203A, MIR203B, MIR2392, MIR299, MIR300, 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, MIR4309, MIR431, MIR432, MIR433, MIR4505, MIR4506, MIR4507, MIR4537, MIR4538, MIR4539, MIR4709, MIR4710, MIR485, MIR487A, MIR487B, MIR493, MIR494, MIR495, MIR496, MIR5195, MIR539, MIR541, MIR543, MIR544A, MIR654, MIR655, MIR656, MIR665, MIR668, MIR6764, MIR6765, MIR758, MIR770, MIR8071-1, MIR8071-2, MIR889, MLH3, MOAP1, MOK, MTA1, MTA1-DT, NDUFB1, NEK9, NGB, NOXRED1, NPC2, NRDE2, NRXN3, NUDT14, OTUB2, PACS2, PAPOLA, PAPOLA-DT, PGF, PLD4, PNMA1, POMT2, PPP1R13B, PPP1R13B-DT, PPP2R5C, PPP4R3A, PPP4R4, PRIMA1, PROX2, PSMC1, PTGR2, PTPN21, RCOR1, RD3L, RIN3, RPS6KA5, RPS6KL1, RTL1, SAMD15, SCARNA13, SEL1L, SERPINA1, SERPINA10, SERPINA11, SERPINA12, SERPINA2, SERPINA3, SERPINA4, SERPINA5, SERPINA6, SERPINA9, SETD3, SIVA1, SLC24A4, SLC25A29, SLC25A47, SLIRP, SNHG10, SNORA11B, SNORA28, SNORA79, 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, SNORD3P3, SNW1, SPATA7, SPTLC2, STON2, SYNDIG1L, SYNE3, TC2N, TCL1A, TCL1B, TCL6, TDP1, TDRD9, TECPR2, TEDC1, TEX22, TGFB3, TMED10, TMED8, TMEM121, TMEM179, TMEM63C, TNFAIP2, TRA-AGC15-1, TRAF3, TRI-AAT5-4, TRIP11, TRMT61A, TSHR, TTC7B, TTC7B-AS1, TTC8, TTLL5, TUNAR, UBR7, UNC79, VASH1, VASH1-AS1, VIPAS39, VRK1, VRTN, VSX2, WARS1, WDR20, WDR25, XRCC3, YLPM1, YY1, ZBTB42, ZC2HC1C, ZC3H14, ZDHHC22, ZFYVE21, ZNF410, ZNF839, ABCD4, ACYP1, ADCK1, ADSS1, AHNAK2, AHSA1, AK7, AKT1, ALDH6A1, ALKBH1, AMN, ANGEL1, ANKRD9, AREL1, ASB2, ASPG, ATG2B, ATP5MJ, ATXN3, BAG5, BATF, BBOF1, BCL11B, BDKRB1, BDKRB2, BEGAIN, BRF1, BTBD6, BTBD7, C14orf132, C14orf178, C14orf180, CALM1, CATSPERB, CCDC197, CCDC85C, CCDC88C, CCDC88C-DT, CCNK, CDC42BPB, CDCA4, CEP128, CEP170B, CHGA, CINP, CIPC, CKB, CLBA1, CLMN, COA8, COQ6, COX8C, CPSF2, CRIP1, CRIP2, CYP46A1, DDX24, DEGS2, DGLUCY, DICER1, DICER1-AS1, DIO2, DIO2-AS1, DIO3, DIO3OS, DLK1, DLST, DNAL1, DYNC1H1, EFCAB11, EIF2B2, EIF5, EIF5-DT, EML1, EML5, ENTPD5, ERG28, ESRRB, EVL, EXOC3L4, FAM161B, FAM181A, FAM181A-AS1, FAM30A, FBLN5, FCF1, FLRT2, FLRT2-AS1, FLVCR2, FLVCR2-AS1, FOS, FOXN3, FOXN3-AS1, FOXN3-AS2, GALC, GLRX5, GOLGA5, GON7, GPATCH2L, GPR132, GPR65, GPR68, GSC, GSC-DT, GSKIP, GSTZ1, GTF2A1, GTF2A1-AS1, HHIPL1, HISLA, HSP90AA1, 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, INF2, IRF2BPL, ISCA2, ISM2, ITPK1, ITPK1-AS1, JAG2, JDP2, JDP2-AS1, KCNK10, KCNK13, KIF26A, KIF26A-DT, KLC1, LBHD2, LGMN, LIN52, LINC00221, LINC00226, LINC00239, LINC00523, LINC00524, LINC00605, LINC00618, LINC00638, LINC00642, LINC00677, LINC00911, LINC01147, LINC01148, LINC01220, LINC01467, LINC01550, LINC01629, LINC02274, LINC02280, LINC02285, LINC02287, LINC02288, LINC02289, LINC02291, LINC02292, LINC02295, LINC02296, LINC02298, LINC02299, LINC02301, LINC02304, LINC02305, LINC02308, LINC02309, LINC02311, LINC02312, LINC02314, LINC02316, LINC02317, LINC02318, LINC02320, LINC02321, LINC02323, LINC02325, LINC02328, LINC02329, LINC02330, LINC02691, LINC02833, LINC02914, LOC101928817, LOC101929107, LOC105370579, LOC105370586, LOC105370589, LOC105370616, LOC105370619, LOC105370622, LOC105370670, LOC105370689, LOC105370697, LOC105378183, LOC107984703, LOC108251794, LOC108348026, LOC108663987, LOC110120910, LOC110121354, LOC110121372, LOC110121376, LOC110121377, LOC110121422, LOC110121459, LOC110121463, LOC110121490, LOC111413013, LOC111413041, LOC111556149, LOC111591503, LOC111721711, LOC111822947, LOC112163679, LOC112163680, LOC112163681, LOC112163682, LOC112163683, LOC112163684, LOC112163685, LOC112272557, LOC112272558, LOC112272559, LOC112272560, LOC112272561, LOC112272566, LOC112272567, LOC112272568, LOC112272569, LOC112272570, LOC112272571, LOC112272572, LOC112272573, LOC113939940, LOC113939941, LOC116268459, LOC116268460, LOC116268461, LOC116268462, LOC116268463, LOC116268464, LOC121529653, LOC121529654, LOC121529655, LOC121529656, LOC121529657, LOC121529658, LOC121529659, LOC121529660, LOC121838597, LOC121838598, LOC121838599, LOC121838600, LOC121838601, LOC121838602, 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, 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, LRRC74A, LTBP2, LYSET, MARK3, MEG3, MEG8, MEG9, MIDEAS, MIDEAS-AS1, MIR1185-1, MIR1185-2, MIR1193, MIR1197, MIR12121
See casesPathogenic
(Apr 30, 2010)
no assertion criteria provided
6.
GRCh37:
Chr14:74343775-78508765
GRCh38:
Chr14:73877072-78042422
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
7.
GRCh37:
Chr14:75955395-80076675
GRCh38:
Chr14:75489052-79610332
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
8.
GRCh37:
Chr14:77659348-80942475
GRCh38:
Chr14:77193005-80476132
See casesLikely pathogenic
(Apr 14, 2011)
no assertion criteria provided
9.
GRCh37:
Chr14:77689138-107287505
GRCh38:
Chr14:77222795-106879298
PTPN21, RCOR1, RD3L, RIN3, RPS6KA5, RTL1, SAMD15, SCARNA13, SEL1L, SERPINA1, SERPINA10, SERPINA11, SERPINA12, SERPINA2, SERPINA3, SERPINA4, SERPINA5, SERPINA6, SERPINA9, SETD3, SIVA1, SLC24A4, SLC25A29, SLC25A47, SLIRP, SNHG10, SNORA11B, SNORA28, SNORA79, 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, SNORD3P3, SNW1, SPATA7, SPTLC2, STON2, SYNE3, TC2N, TCL1A, TCL1B, TCL6, TDP1, TDRD9, TECPR2, TEDC1, TEX22, TMED8, TMEM121, TMEM179, TMEM63C, TNFAIP2, TRA-AGC15-1, TRAF3, TRI-AAT5-4, TRIP11, TRMT61A, TSHR, TTC7B, TTC7B-AS1, TTC8, TUNAR, UBR7, UNC79, VIPAS39, VRK1, WARS1, WDR20, WDR25, XRCC3, YY1, ZBTB42, ZC3H14, ZFYVE21, ZNF839, ADCK1, ADSS1, AHNAK2, AHSA1, AK7, AKT1, ALKBH1, AMN, ANKRD9, ASB2, ASPG, ATG2B, ATP5MJ, ATXN3, BAG5, BCL11B, BDKRB1, BDKRB2, BEGAIN, BRF1, BTBD6, BTBD7, C14orf132, C14orf178, C14orf180, CALM1, CATSPERB, CCDC197, CCDC85C, CCDC88C, CCDC88C-DT, CCNK, CDC42BPB, CDCA4, CEP128, CEP170B, CHGA, CINP, CKB, CLBA1, CLMN, COA8, COX8C, CPSF2, CRIP1, CRIP2, CYP46A1, DDX24, DEGS2, DGLUCY, DICER1, DICER1-AS1, DIO2, DIO2-AS1, DIO3, DIO3OS, DLK1, DYNC1H1, EFCAB11, EIF5, EIF5-DT, EML1, EML5, EVL, EXOC3L4, FAM181A, FAM181A-AS1, FAM30A, FBLN5, FLRT2, FLRT2-AS1, FOXN3, FOXN3-AS1, FOXN3-AS2, GALC, GLRX5, GOLGA5, GON7, GPR132, GPR65, GPR68, GSC, GSC-DT, GSKIP, GSTZ1, GTF2A1, GTF2A1-AS1, HHIPL1, HISLA, HSP90AA1, IFI27, IFI27L1, IFI27L2, 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, INF2, ISM2, ITPK1, ITPK1-AS1, JAG2, KCNK10, KCNK13, KIF26A, KIF26A-DT, KLC1, LBHD2, LGMN, LINC00221, LINC00226, LINC00239, LINC00523, LINC00524, LINC00605, LINC00618, LINC00638, LINC00642, LINC00677, LINC00911, LINC01147, LINC01148, LINC01467, LINC01550, LINC02280, LINC02285, LINC02287, LINC02291, LINC02292, LINC02295, LINC02296, LINC02298, LINC02299, LINC02301, LINC02304, LINC02305, LINC02308, LINC02309, LINC02311, LINC02312, LINC02314, LINC02316, LINC02317, LINC02318, LINC02320, LINC02321, LINC02323, LINC02325, LINC02328, LINC02329, LINC02330, LINC02691, LINC02833, LINC02914, LOC101928817, LOC101929107, LOC105370586, LOC105370589, LOC105370616, LOC105370619, LOC105370622, LOC105370670, LOC105370689, LOC105370697, LOC105378183, LOC107984703, LOC108251794, LOC108348026, LOC108663987, LOC110120910, LOC110121354, LOC110121377, LOC110121463, LOC111413041, LOC111556149, LOC111591503, LOC111721711, LOC112163679, LOC112163680, LOC112163681, LOC112163682, LOC112163683, LOC112163684, LOC112163685, LOC112272560, LOC112272561, LOC112272566, LOC112272567, LOC112272568, LOC112272569, LOC112272570, LOC112272571, LOC112272572, LOC112272573, LOC113939941, LOC116268460, LOC116268461, LOC116268462, LOC116268463, LOC116268464, LOC121529654, LOC121529655, LOC121529656, LOC121529657, LOC121529658, LOC121529659, LOC121529660, LOC121838598, LOC121838599, LOC121838600, LOC121838601, LOC121838602, 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, 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, LYSET, MARK3, MEG3, MEG8, MEG9, MIR1185-1, MIR1185-2, MIR1193, MIR1197, MIR12121, MIR1247, MIR1260A, MIR127, MIR134, MIR136, MIR151B, MIR154, MIR203A, MIR203B, MIR2392, MIR299, MIR300, 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, MIR4309, MIR431, MIR432, MIR433, MIR4506, MIR4507, MIR4537, MIR4538, MIR4539, MIR4710, MIR485, MIR487A, MIR487B, MIR493, MIR494, MIR495, MIR496, MIR5195, MIR539, MIR541, MIR543, MIR544A, MIR654, MIR655, MIR656, MIR665, MIR668, MIR6764, MIR6765, MIR758, MIR770, MIR8071-1, MIR8071-2, MIR889, MOAP1, MOK, MTA1, MTA1-DT, NDUFB1, NGB, NOXRED1, NRDE2, NRXN3, NUDT14, OTUB2, PACS2, PAPOLA, PAPOLA-DT, PLD4, POMT2, PPP1R13B, PPP1R13B-DT, PPP2R5C, PPP4R3A, PPP4R4, PRIMA1, PSMC1
See casesPathogenic
(Apr 5, 2012)
no assertion criteria provided
10.
GRCh37:
Chr14:77741338
GRCh38:
Chr14:77274995
POMT2Autosomal recessive limb-girdle muscular dystrophy type 2NUncertain significance
(Jan 12, 2018)
criteria provided, single submitter
11.
GRCh37:
Chr14:77741349-77741350
GRCh38:
Chr14:77275006-77275007
POMT2Limb-Girdle Muscular Dystrophy, RecessiveUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
12.
GRCh37:
Chr14:77741360
GRCh38:
Chr14:77275017
POMT2Autosomal recessive limb-girdle muscular dystrophy type 2NUncertain significance
(Jan 12, 2018)
criteria provided, single submitter
13.
GRCh37:
Chr14:77741394
GRCh38:
Chr14:77275051
POMT2Autosomal recessive limb-girdle muscular dystrophy type 2NBenign
(Jan 13, 2018)
criteria provided, single submitter
14.
GRCh37:
Chr14:77741519
GRCh38:
Chr14:77275176
POMT2Autosomal recessive limb-girdle muscular dystrophy type 2NUncertain significance
(Jan 12, 2018)
criteria provided, single submitter
15.
GRCh37:
Chr14:77741554
GRCh38:
Chr14:77275211
POMT2Autosomal recessive limb-girdle muscular dystrophy type 2NUncertain significance
(Jan 12, 2018)
criteria provided, single submitter
16.
GRCh37:
Chr14:77741559
GRCh38:
Chr14:77275216
POMT2Limb-Girdle Muscular Dystrophy, RecessiveUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
17.
GRCh37:
Chr14:77741568
GRCh38:
Chr14:77275225
POMT2not provided, Autosomal recessive limb-girdle muscular dystrophy type 2NConflicting interpretations of pathogenicity
(Nov 1, 2022)
criteria provided, conflicting interpretations
18.
GRCh37:
Chr14:77741626
GRCh38:
Chr14:77275283
POMT2Autosomal recessive limb-girdle muscular dystrophy type 2NUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
19.
GRCh37:
Chr14:77741628
GRCh38:
Chr14:77275285
POMT2Autosomal recessive limb-girdle muscular dystrophy type 2NLikely benign
(Jan 12, 2018)
criteria provided, single submitter
20.
GRCh37:
Chr14:77741639
GRCh38:
Chr14:77275296
POMT2Autosomal recessive limb-girdle muscular dystrophy type 2NUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
21.
GRCh37:
Chr14:77741642
GRCh38:
Chr14:77275299
POMT2Autosomal recessive limb-girdle muscular dystrophy type 2NUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
22.
GRCh37:
Chr14:77741647
GRCh38:
Chr14:77275304
POMT2Autosomal recessive limb-girdle muscular dystrophy type 2NUncertain significance
(Jan 12, 2018)
criteria provided, single submitter
23.
GRCh37:
Chr14:77741666
GRCh38:
Chr14:77275323
POMT2Autosomal recessive limb-girdle muscular dystrophy type 2NUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
24.
GRCh37:
Chr14:77741745
GRCh38:
Chr14:77275402
POMT2Autosomal recessive limb-girdle muscular dystrophy type 2NBenign
(Jan 13, 2018)
criteria provided, single submitter
25.
GRCh37:
Chr14:77741752
GRCh38:
Chr14:77275409
POMT2Autosomal recessive limb-girdle muscular dystrophy type 2NBenign
(Jan 13, 2018)
criteria provided, single submitter
26.
GRCh37:
Chr14:77741813
GRCh38:
Chr14:77275470
POMT2Autosomal recessive limb-girdle muscular dystrophy type 2NUncertain significance
(Jan 12, 2018)
criteria provided, single submitter
27.
GRCh37:
Chr14:77741826
GRCh38:
Chr14:77275483
POMT2Autosomal recessive limb-girdle muscular dystrophy type 2NLikely benign
(Jan 12, 2018)
criteria provided, single submitter
28.
GRCh37:
Chr14:77741901
GRCh38:
Chr14:77275558
POMT2Autosomal recessive limb-girdle muscular dystrophy type 2NUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
29.
GRCh37:
Chr14:77741914
GRCh38:
Chr14:77275571
POMT2Autosomal recessive limb-girdle muscular dystrophy type 2NUncertain significance
(Jan 12, 2018)
criteria provided, single submitter
30.
GRCh37:
Chr14:77741945
GRCh38:
Chr14:77275602
POMT2Autosomal recessive limb-girdle muscular dystrophy type 2NUncertain significance
(Jan 12, 2018)
criteria provided, single submitter
31.
GRCh37:
Chr14:77741963
GRCh38:
Chr14:77275620
POMT2Autosomal recessive limb-girdle muscular dystrophy type 2NLikely benign
(Jan 12, 2018)
criteria provided, single submitter
32.
GRCh37:
Chr14:77741970
GRCh38:
Chr14:77275627
POMT2Autosomal recessive limb-girdle muscular dystrophy type 2NUncertain significance
(Jan 12, 2018)
criteria provided, single submitter
33.
GRCh37:
Chr14:77741971
GRCh38:
Chr14:77275628
POMT2Autosomal recessive limb-girdle muscular dystrophy type 2NBenign
(Jan 12, 2018)
criteria provided, single submitter
34.
GRCh37:
Chr14:77741977
GRCh38:
Chr14:77275634
POMT2Autosomal recessive limb-girdle muscular dystrophy type 2NBenign
(Jan 13, 2018)
criteria provided, single submitter
35.
GRCh37:
Chr14:77741985
GRCh38:
Chr14:77275642
POMT2Autosomal recessive limb-girdle muscular dystrophy type 2NUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
36.
GRCh37:
Chr14:77741995
GRCh38:
Chr14:77275652
POMT2Autosomal recessive limb-girdle muscular dystrophy type 2NUncertain significance
(Jan 12, 2018)
criteria provided, single submitter
37.
GRCh37:
Chr14:77742078
GRCh38:
Chr14:77275735
POMT2Autosomal recessive limb-girdle muscular dystrophy type 2NUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
38.
GRCh37:
Chr14:77742109
GRCh38:
Chr14:77275766
POMT2Autosomal recessive limb-girdle muscular dystrophy type 2NUncertain significance
(Jan 12, 2018)
criteria provided, single submitter
39.
GRCh37:
Chr14:77742116
GRCh38:
Chr14:77275773
POMT2Autosomal recessive limb-girdle muscular dystrophy type 2NUncertain significance
(Jan 12, 2018)
criteria provided, single submitter
40.
GRCh37:
Chr14:77742140
GRCh38:
Chr14:77275797
POMT2Autosomal recessive limb-girdle muscular dystrophy type 2NUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
41.
GRCh37:
Chr14:77742171
GRCh38:
Chr14:77275828
POMT2Autosomal recessive limb-girdle muscular dystrophy type 2NUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
42.
GRCh37:
Chr14:77742203
GRCh38:
Chr14:77275860
POMT2Autosomal recessive limb-girdle muscular dystrophy type 2NBenign
(Jan 13, 2018)
criteria provided, single submitter
43.
GRCh37:
Chr14:77742218
GRCh38:
Chr14:77275875
POMT2Autosomal recessive limb-girdle muscular dystrophy type 2NBenign
(Jan 12, 2018)
criteria provided, single submitter
44.
GRCh37:
Chr14:77742245
GRCh38:
Chr14:77275902
POMT2Autosomal recessive limb-girdle muscular dystrophy type 2NUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
45.
GRCh37:
Chr14:77742382
GRCh38:
Chr14:77276039
POMT2Autosomal recessive limb-girdle muscular dystrophy type 2NLikely benign
(Jan 12, 2018)
criteria provided, single submitter
46.
GRCh37:
Chr14:77742402
GRCh38:
Chr14:77276059
POMT2Autosomal recessive limb-girdle muscular dystrophy type 2NUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
47.
GRCh37:
Chr14:77742402
GRCh38:
Chr14:77276059
POMT2Autosomal recessive limb-girdle muscular dystrophy type 2NUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
48.
GRCh37:
Chr14:77742434
GRCh38:
Chr14:77276091
POMT2Autosomal recessive limb-girdle muscular dystrophy type 2NUncertain significance
(Jan 12, 2018)
criteria provided, single submitter
49.
GRCh37:
Chr14:77742454
GRCh38:
Chr14:77276111
POMT2Autosomal recessive limb-girdle muscular dystrophy type 2NUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
50.
GRCh37:
Chr14:77742467
GRCh38:
Chr14:77276124
POMT2Autosomal recessive limb-girdle muscular dystrophy type 2NUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
51.
GRCh37:
Chr14:77742582
GRCh38:
Chr14:77276239
POMT2Autosomal recessive limb-girdle muscular dystrophy type 2NBenign
(Jan 13, 2018)
criteria provided, single submitter
52.
GRCh37:
Chr14:77742632
GRCh38:
Chr14:77276289
POMT2Autosomal recessive limb-girdle muscular dystrophy type 2NBenign
(Jan 13, 2018)
criteria provided, single submitter
53.
GRCh37:
Chr14:77742661
GRCh38:
Chr14:77276318
POMT2Autosomal recessive limb-girdle muscular dystrophy type 2NBenign
(Jan 13, 2018)
criteria provided, single submitter
54.
GRCh37:
Chr14:77742666
GRCh38:
Chr14:77276323
POMT2Autosomal recessive limb-girdle muscular dystrophy type 2NUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
55.
GRCh37:
Chr14:77742676
GRCh38:
Chr14:77276333
POMT2Autosomal recessive limb-girdle muscular dystrophy type 2NUncertain significance
(Jan 12, 2018)
criteria provided, single submitter
56.
GRCh37:
Chr14:77742792
GRCh38:
Chr14:77276449
POMT2Autosomal recessive limb-girdle muscular dystrophy type 2NUncertain significance
(Jan 12, 2018)
criteria provided, single submitter
57.
GRCh37:
Chr14:77742910
GRCh38:
Chr14:77276567
POMT2Autosomal recessive limb-girdle muscular dystrophy type 2NUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
58.
GRCh37:
Chr14:77742929
GRCh38:
Chr14:77276586
POMT2Autosomal recessive limb-girdle muscular dystrophy type 2NBenign
(Jan 13, 2018)
criteria provided, single submitter
59.
GRCh37:
Chr14:77742953
GRCh38:
Chr14:77276610
POMT2Autosomal recessive limb-girdle muscular dystrophy type 2NUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
60.
GRCh37:
Chr14:77742961
GRCh38:
Chr14:77276618
POMT2Autosomal recessive limb-girdle muscular dystrophy type 2NUncertain significance
(Jan 12, 2018)
criteria provided, single submitter
61.
GRCh37:
Chr14:77742992
GRCh38:
Chr14:77276649
POMT2Autosomal recessive limb-girdle muscular dystrophy type 2NUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
62.
GRCh37:
Chr14:77743026
GRCh38:
Chr14:77276683
POMT2Autosomal recessive limb-girdle muscular dystrophy type 2NUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
63.
GRCh37:
Chr14:77743036-77743037
GRCh38:
Chr14:77276693-77276694
POMT2Limb-Girdle Muscular Dystrophy, RecessiveUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
64.
GRCh37:
Chr14:77743082
GRCh38:
Chr14:77276739
POMT2Autosomal recessive limb-girdle muscular dystrophy type 2NUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
65.
GRCh37:
Chr14:77743097
GRCh38:
Chr14:77276754
POMT2Autosomal recessive limb-girdle muscular dystrophy type 2NUncertain significance
(Jan 12, 2018)
criteria provided, single submitter
66.
GRCh37:
Chr14:77743113
GRCh38:
Chr14:77276770
POMT2Autosomal recessive limb-girdle muscular dystrophy type 2NUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
67.
GRCh37:
Chr14:77743114
GRCh38:
Chr14:77276771
POMT2Autosomal recessive limb-girdle muscular dystrophy type 2NUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
68.
GRCh37:
Chr14:77743114
GRCh38:
Chr14:77276771
POMT2Autosomal recessive limb-girdle muscular dystrophy type 2NUncertain significance
(Jan 12, 2018)
criteria provided, single submitter
69.
GRCh37:
Chr14:77743118
GRCh38:
Chr14:77276775
POMT2Autosomal recessive limb-girdle muscular dystrophy type 2NUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
70.
GRCh37:
Chr14:77743122
GRCh38:
Chr14:77276779
POMT2Autosomal recessive limb-girdle muscular dystrophy type 2NUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
71.
GRCh37:
Chr14:77743125
GRCh38:
Chr14:77276782
POMT2Autosomal recessive limb-girdle muscular dystrophy type 2NUncertain significance
(Jan 12, 2018)
criteria provided, single submitter
72.
GRCh37:
Chr14:77743132
GRCh38:
Chr14:77276789
POMT2Autosomal recessive limb-girdle muscular dystrophy type 2NBenign
(Jan 12, 2018)
criteria provided, single submitter
73.
GRCh37:
Chr14:77743145
GRCh38:
Chr14:77276802
POMT2Autosomal recessive limb-girdle muscular dystrophy type 2NUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
74.
GRCh37:
Chr14:77743286
GRCh38:
Chr14:77276943
POMT2Limb-Girdle Muscular Dystrophy, RecessiveUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
75.
GRCh37:
Chr14:77743370
GRCh38:
Chr14:77277027
POMT2Autosomal recessive limb-girdle muscular dystrophy type 2NUncertain significance
(Jan 12, 2018)
criteria provided, single submitter
76.
GRCh37:
Chr14:77743403
GRCh38:
Chr14:77277060
POMT2Autosomal recessive limb-girdle muscular dystrophy type 2NUncertain significance
(Mar 30, 2018)
criteria provided, single submitter
77.
GRCh37:
Chr14:77743430
GRCh38:
Chr14:77277087
POMT2Autosomal recessive limb-girdle muscular dystrophy type 2NUncertain significance
(Jan 12, 2018)
criteria provided, single submitter
78.
GRCh37:
Chr14:77743523
GRCh38:
Chr14:77277180
POMT2Autosomal recessive limb-girdle muscular dystrophy type 2NUncertain significance
(Jan 12, 2018)
criteria provided, single submitter
79.
GRCh37:
Chr14:77743533
GRCh38:
Chr14:77277190
POMT2Autosomal recessive limb-girdle muscular dystrophy type 2NUncertain significance
(Jan 12, 2018)
criteria provided, single submitter
80.
GRCh37:
Chr14:77743543
GRCh38:
Chr14:77277200
POMT2Autosomal recessive limb-girdle muscular dystrophy type 2NUncertain significance
(Apr 27, 2017)
criteria provided, single submitter
81.
GRCh37:
Chr14:77743600
GRCh38:
Chr14:77277257
POMT2Autosomal recessive limb-girdle muscular dystrophy type 2NUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
82.
GRCh37:
Chr14:77743616
GRCh38:
Chr14:77277273
POMT2Autosomal recessive limb-girdle muscular dystrophy type 2NUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
83.
GRCh37:
Chr14:77743644
GRCh38:
Chr14:77277301
POMT2not provided, Autosomal recessive limb-girdle muscular dystrophy type 2NBenign
(Jun 19, 2018)
criteria provided, multiple submitters, no conflicts
84.
GRCh37:
Chr14:77743699-78082942
GRCh38:
Chr14:77277356-77616599
Neuropathy, hereditary sensory and autonomic, type 1CUncertain significance
(Aug 15, 2018)
criteria provided, single submitter
85.
GRCh37:
Chr14:77743704
GRCh38:
Chr14:77277361
POMT2Autosomal recessive limb-girdle muscular dystrophy type 2NUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
86.
GRCh37:
Chr14:77743708
GRCh38:
Chr14:77277365
POMT2Autosomal recessive limb-girdle muscular dystrophy type 2NUncertain significance
(Jan 12, 2018)
criteria provided, single submitter
87.
GRCh37:
Chr14:77743721
GRCh38:
Chr14:77277378
POMT2Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2, Autosomal recessive limb-girdle muscular dystrophy type 2N
Uncertain significance
(Aug 28, 2021)
criteria provided, single submitter
88.
GRCh37:
Chr14:77743722
GRCh38:
Chr14:77277379
POMT2Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2, Autosomal recessive limb-girdle muscular dystrophy type 2N
Likely benign
(Jun 4, 2022)
criteria provided, single submitter
89.
GRCh37:
Chr14:77743729
GRCh38:
Chr14:77277386
POMT2W748SAutosomal recessive limb-girdle muscular dystrophy type 2NPathogenic
(Oct 1, 2007)
no assertion criteria provided
90.
GRCh37:
Chr14:77743730
GRCh38:
Chr14:77277387
POMT2W748RMuscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2, Autosomal recessive limb-girdle muscular dystrophy type 2N, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
Likely pathogenic
(Sep 26, 2022)
criteria provided, single submitter