U.S. flag

An official website of the United States government

Format
Items per page
Sort by
Choose Destination

Search results

Items: 1 to 100 of 110

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr19:11338618-45129651
GRCh38:
Chr19:11227942-44626354
LOC130064390, LOC130064391, LOC130064392, LOC130064393, LOC130064394, LOC130064395, LOC130064396, LOC130064397, LOC130064398, LOC130064399, LOC130064400, LOC130064401, LOC130064402, LOC130064403, LOC130064404, LOC130064405, LOC130064406, LOC130064407, LOC130064408, LOC130064409, LOC130064410, LOC130064411, LOC130064412, LOC130064413, LOC130064414, LOC130064415, LOC130064416, LOC130064417, LOC130064418, LOC130064419, LOC130064420, LOC130064421, LOC130064422, LOC130064423, LOC130064424, LOC130064425, LOC130064426, LOC130064427, LOC130064428, LOC130064429, LOC130064430, LOC130064431, LOC130064432, LOC130064433, LOC130064434, LOC130064435, LOC130064436, LOC130064437, LOC130064438, LOC130064439, LOC130064440, LOC130064441, LOC130064442, LOC130064443, LOC130064444, LOC130064445, LOC130064446, LOC130064447, LOC130064448, LOC130064449, LOC130064450, LOC130064451, LOC130064452, LOC130064453, LOC130064454, LOC130064455, LOC130064456, LOC130064457, LOC130064458, LOC130064459, LOC130064460, LOC130064461, LOC130064462, LOC130064463, LOC130064464, LOC130064465, LOC130064466, LOC130064467, LOC130064468, LOC130064469, LOC130064470, LOC130064471, LOC130064472, LOC130064473, LOC130064474, LOC130064475, LOC130064476, LOC130064477, LOC130064478, LOC130064479, LOC130064480, LOC130064481, LOC130064482, LOC130064483, LOC130064484, LOC130064485, LOC130064486, LOC130064487, LOC130064488, LOC130064489, LOC130064490, LOC130064491, LOC130064492, LOC130064493, LOC130064494, LOC130064495, LOC130064496, LOC130064497, LOC130064498, LOC130064499, LOC130064500, LOC130064501, LOC130064502, LOC130064503, LOC130064504, LOC130064505, LOC130064506, LOC130064507, LOC130064508, LOC130064509, LOC130064510, LOC130064511, LOC130064512, LOC130064513, LOC130064514, LOC130064515, LOC130064516, LOC130064517, LOC130064518, LOC130064519, LOC130064520, LOC130064521, LOC130064522, LOC130064523, LOC130064524, LOC130064525, LOC130064526, LOC130064527, LOC130064528, LOC130064529, LOC130064530, LOC130064531, LOC130064532, LOC130064533, LOC130064534, LOC130064535, LOC130064536, LOC130064537, LOC130064538, LOC130064539, LOC130064540, LOC130064541, LOC130064542, LOC130064543, LOC130064544, LOC130064545, LOC130064546, LOC130064547, LOC130064548, LOC130064549, LOC130064550, LOC130064551, LOC130064552, LOC130064553, LOC130064554, LOC130064555, LOC130064556, LOC130064557, LOC130064558, LOC130064559, LOC130064560, LOC130064561, LOC130064562, LOC130064563, LOC130064564, LOC130064565, LOC130064566, LOC130064567, LOC130064568, LOC130064569, LOC130064570, LOC130064571, LOC130064572, LOC130064573, LOC130064574, LOC130064575, LOC130064576, LOC130064577, LOC130064578, LOC130064579, LOC130064580, LOC130064581, LOC130064582, LOC130064583, LOC130064584, LOC130064585, LOC130064586, LOC130064587, LOC130064588, LOC130064589, LOC130064590, LOC130064591, LOC130064592, LOC130064593, LOC130064594, LOC130064595, LOC130064596, LOC130064597, LOC130064598, LOC130064599, LOC130064600, LOC130064601, LOC130064602, LOC130064603, LOC130064604, LOC130064605, LOC130064606, LOC130064607, LOC130064608, LOC130064609, LOC130064610, LOC130064611, LOC130064612, LOC130064613, LOC130064614, LOC130064615, LOC130064616, LOC130064617, LOC130064618, LOC130064619, LOC130064620, LOC130064621, LOC130064622, LOC130064623, LOC130064624, LOC130064625, LOC130064626, LOC130064627, LOC130064628, LOC130064629, LOC130064630, LOC130064631, LOC130064632, LOC130064633, LOC130064634, LOC132090533, LOC132090534, LOC132090535, LOC132090536, LOC132090537, LOC132090538, LOC132090539, LOC132090540, LOC132090541, LOC132090542, LOC132090543, LOC132090544, LOC132090545, LOC132090546, LOC132090547, LOC132090548, LOC132090549, LOC132090550, LOC132090904, LOC132090905, LOC132090906, LOC132090907, LOC132090908, LOC132090909, LOC284344, LOC284412, LOC644554, LOC728485, LPAR2, LRFN1, LRFN3, LRP3, LRRC25, LSM14A, LSM4, LSR, LTBP4, LYL1, LYPD3, LYPD4, LYPD5, MAG, MAN2B1, MAP1S, MAP3K10, MAP4K1, MAP4K1-AS1, MAST1, MAST3, MAU2, MED26, MED29, MEF2B, MEGF8, MIA, MIA-RAB4B, MIR1199, MIR1270, MIR1470, MIR181C, MIR181D, MIR23A, MIR23AHG, MIR24-2, MIR27A, MIR3188, MIR3189, MIR4323, MIR4530, MIR5196, MIR5684, MIR5695, MIR639, MIR640, MIR641, MIR6515, MIR6719, MIR6794, MIR6795, MIR6796, MIR6797, MIR6887, MIR7974, MIR8077, MISP3, MPV17L2, MRI1, MRPL34, MRPS12, MVB12A, MYO9B, NACC1, NANOS3, NCAN, NCCRP1, NDUFA13, NDUFB7, NFIX, NFKBIB, NFKBID, NIBAN3, NOTCH3, NPHS1, NR2C2AP, NR2F6, NUDT19, NUDT19-DT, NUMBL, NWD1, NXNL1, OCEL1, ODAD3, OR10H1, OR10H2, OR10H3, OR10H4, OR10H5, OR1I1, OR7A10, OR7A17, OR7A5, OR7C1, OR7C2, OVOL3, PAF1, PAFAH1B3, PAK4, PALM3, PBX4, PCAT19, PDCD2L, PDCD5, PDE4C, PEPD, PGLS, PGLS-DT, PGLYRP2, PGPEP1, PHLDB3, PIK3R2, PINLYP, PKN1, PLAUR, PLD3, PLEKHF1, PLEKHG2, PLPPR2, PLVAP, PMIS2, PODNL1, POLR2I, POP4, POU2F2, POU2F2-AS2, PPP1R14A, PRDX2, PRG1, PRKACA, PRKCSH, PRODH2, PROSER3, PRR19, PRX, PSENEN, PSG1, PSG11, PSG11-AS1, PSG2, PSG3, PSG4, PSG5, PSG6, PSG7, PSG8, PSG8-AS1, PSG9, PSMC4, PSMD8, PTGER1, RAB3A, RAB3D, RAB4B, RAB4B-EGLN2, RAB8A, RABAC1, RAD23A, RASAL3, RASGRP4, RBM42, REX1BD, RFX1, RFXANK, RGL3, RGS9BP, RHPN2, RINL, RLN3, RNASEH2A, RPL18A, RPS16, RPS19, RPSA2, RTBDN, SCGB2B2, RYR1, SAMD1, SAMD4B, SARS2, SBSN, SCN1B, SDHAF1, SELENOV, SERTAD1, SERTAD3, SERTAD3-AS1, SHKBP1, SIN3B, SIPA1L3, SIRT2, SLC1A6, SLC25A42, SLC27A1, SLC35E1, SLC5A5, SLC7A10, SLC7A9, SMG9, SMIM46, SMIM7, SNORA104, SNORA118, SNORA68, SNORA68B, SNORD135, SNORD152, SNORD175, SNORD41, SNRPA, SPINT2, SPRED3, SPTBN4, SRRM5, SSBP4, STX10, SUGP1, SUGP2, SUNO1, SUPT5H, SWSAP1, SYCE2, SYCN, SYDE1, SYNE4, TBCB, TDRD12, TECR, TEKTL1, TEX101, TGFB1, THAP8, THSD8, TIMM50, TM6SF2, TMEM145, TMEM147, TMEM147-AS1, TMEM161A, TMEM205, TMEM221, TMEM38A, TMEM59L, TMEM91, TNPO2, TPM4, TRI-TAT1-1, LOC130063878, LOC130063879, LOC130063880, LOC130063881, LOC130063882, LOC130063883, LOC130063884, LOC130063885, LOC130063886, LOC130063887, LOC130063888, LOC130063889, LOC130063890, LOC130063891, LOC130063892, LOC130063893, LOC130063894, LOC130063895, LOC130063896, LOC130063897, LOC130063898, LOC130063899, LOC130063900, LOC130063901, LOC130063902, LOC130063903, LOC130063904, LOC130063905, LOC130063906, LOC130063907, LOC130063908, LOC130063909, LOC130063910, LOC130063911, LOC130063912, LOC130063913, LOC130063914, LOC130063915, LOC130063916, LOC130063917, LOC130063918, LOC130063919, LOC130063920, LOC130063921, LOC130063922, LOC130063923, LOC130063924, LOC130063925, LOC130063926, LOC130063927, LOC130063928, LOC130063929, LOC130063930, LOC130063931, LOC130063932, LOC130063933, LOC130063934, LOC130063935, LOC130063936, LOC130063937, LOC130063938, LOC130063939, LOC130063940, LOC130063941, LOC130063942, LOC130063943, LOC130063944, LOC130063945, LOC130063946, LOC130063947, LOC130063948, LOC130063949, LOC130063950, LOC130063951, LOC130063952, LOC130063953, LOC130063954, LOC130063955, LOC130063956, LOC130063957, LOC130063958, LOC130063959, LOC130063960, LOC130063961, LOC130063962, LOC130063963, LOC130063964, LOC130063965, LOC130063966, LOC130063967, LOC130063968, LOC130063969, LOC130063970, LOC130063971, LOC130063972, LOC130063973, LOC130063974, LOC130063975, LOC130063976, LOC130063977, LOC130063978, LOC130063979, LOC130063980, LOC130063981, LOC130063982, LOC130063983, LOC130063984, LOC130063985, LOC130063986, LOC130063987, LOC130063988, LOC130063989, LOC130063990, LOC130063991, LOC130063992, LOC130063993, LOC130063994, LOC130063995, LOC130063996, LOC130063997, LOC130063998, LOC130063999, LOC130064000, LOC130064001, LOC130064002, LOC130064003, LOC130064004, LOC130064005, LOC130064006, LOC130064007, LOC130064008, LOC130064009, LOC130064010, LOC130064011, LOC130064012, LOC130064013, LOC130064014, LOC130064015, LOC130064016, LOC130064017, LOC130064018, LOC130064019, LOC130064020, LOC130064021, LOC130064022, LOC130064023, LOC130064024, LOC130064025, LOC130064026, LOC130064027, LOC130064028, LOC130064029, LOC130064030, LOC130064031, LOC130064032, LOC130064033, LOC130064034, LOC130064035, LOC130064036, LOC130064037, LOC130064038, LOC130064039, LOC130064040, LOC130064041, LOC130064042, LOC130064043, LOC130064044, LOC130064045, LOC130064046, LOC130064047, LOC130064048, LOC130064049, LOC130064050, LOC130064051, LOC130064052, LOC130064053, LOC130064054, LOC130064055, LOC130064056, LOC130064057, LOC130064058, LOC130064059, LOC130064060, LOC130064061, LOC130064062, LOC130064063, LOC130064064, LOC130064065, LOC130064066, LOC130064067, LOC130064068, LOC130064069, LOC130064070, LOC130064071, LOC130064072, LOC130064073, LOC130064074, LOC130064075, LOC130064076, LOC130064077, LOC130064078, LOC130064079, LOC130064080, LOC130064081, LOC130064082, LOC130064083, LOC130064084, LOC130064085, LOC130064086, LOC130064087, LOC130064088, LOC130064089, LOC130064090, LOC130064091, LOC130064092, LOC130064093, LOC130064094, LOC130064095, LOC130064096, LOC130064097, LOC130064098, LOC130064099, LOC130064100, LOC130064101, LOC130064102, LOC130064103, LOC130064104, LOC130064105, LOC130064106, LOC130064107, LOC130064108, LOC130064109, LOC130064110, LOC130064111, LOC130064112, LOC130064113, LOC130064114, LOC130064115, LOC130064116, LOC130064117, LOC130064118, LOC130064119, LOC130064120, LOC130064121, LOC130064122, LOC130064123, LOC130064124, LOC130064125, LOC130064126, LOC130064127, LOC130064128, LOC130064129, LOC130064130, LOC130064131, LOC130064132, LOC130064133, LOC130064134, LOC130064135, LOC130064136, LOC130064137, LOC130064138, LOC130064139, LOC130064140, LOC130064141, LOC130064142, LOC130064143, LOC130064144, LOC130064145, LOC130064146, LOC130064147, LOC130064148, LOC130064149, LOC130064150, LOC130064151, LOC130064152, LOC130064153, LOC130064154, LOC130064155, LOC130064156, LOC130064157, LOC130064158, LOC130064159, LOC130064160, LOC130064161, LOC130064162, LOC130064163, LOC130064164, LOC130064165, LOC130064166, LOC130064167, LOC130064168, LOC130064169, LOC130064170, LOC130064171, LOC130064172, LOC130064173, LOC130064174, LOC130064175, LOC130064176, LOC130064177, LOC130064178, LOC130064179, LOC130064180, LOC130064181, LOC130064182, LOC130064183, LOC130064184, LOC130064185, LOC130064186, LOC130064187, LOC130064188, LOC130064189, LOC130064190, LOC130064191, LOC130064192, LOC130064193, LOC130064194, LOC130064195, LOC130064196, LOC130064197, LOC130064198, LOC130064199, LOC130064200, LOC130064201, LOC130064202, LOC130064203, LOC130064204, LOC130064205, LOC130064206, LOC130064207, LOC130064208, LOC130064209, LOC130064210, LOC130064211, LOC130064212, LOC130064213, LOC130064214, LOC130064215, LOC130064216, LOC130064217, LOC130064218, LOC130064219, LOC130064220, LOC130064221, LOC130064222, LOC130064223, LOC130064224, LOC130064225, LOC130064226, LOC130064227, LOC130064228, LOC130064229, LOC130064230, LOC130064231, LOC130064232, LOC130064233, LOC130064234, LOC130064235, LOC130064236, LOC130064237, LOC130064238, LOC130064239, LOC130064240, LOC130064241, LOC130064242, LOC130064243, LOC130064244, LOC130064245, LOC130064246, LOC130064247, LOC130064248, LOC130064249, LOC130064250, LOC130064251, LOC130064252, LOC130064253, LOC130064254, LOC130064255, LOC130064256, LOC130064257, LOC130064258, LOC130064259, LOC130064260, LOC130064261, LOC130064262, LOC130064263, LOC130064264, LOC130064265, LOC130064266, LOC130064267, LOC130064268, LOC130064269, LOC130064270, LOC130064271, LOC130064272, LOC130064273, LOC130064274, LOC130064275, LOC130064276, LOC130064277, LOC130064278, LOC130064279, LOC130064280, LOC130064281, LOC130064282, LOC130064283, LOC130064284, LOC130064285, LOC130064286, LOC130064287, LOC130064288, LOC130064289, LOC130064290, LOC130064291, LOC130064292, LOC130064293, LOC130064294, LOC130064295, LOC130064296, LOC130064297, LOC130064298, LOC130064299, LOC130064300, LOC130064301, LOC130064302, LOC130064303, LOC130064304, LOC130064305, LOC130064306, LOC130064307, LOC130064308, LOC130064309, LOC130064310, LOC130064311, LOC130064312, LOC130064313, LOC130064314, LOC130064315, LOC130064316, LOC130064317, LOC130064318, LOC130064319, LOC130064320, LOC130064321, LOC130064322, LOC130064323, LOC130064324, LOC130064325, LOC130064326, LOC130064327, LOC130064328, LOC130064329, LOC130064330, LOC130064331, LOC130064332, LOC130064333, LOC130064334, LOC130064335, LOC130064336, LOC130064337, LOC130064338, LOC130064339, LOC130064340, LOC130064341, LOC130064342, LOC130064343, LOC130064344, LOC130064345, LOC130064346, LOC130064347, LOC130064348, LOC130064349, LOC130064350, LOC130064351, LOC130064352, LOC130064353, LOC130064354, LOC130064355, LOC130064356, LOC130064357, LOC130064358, LOC130064359, LOC130064360, LOC130064361, LOC130064362, LOC130064363, LOC130064364, LOC130064365, LOC130064366, LOC130064367, LOC130064368, LOC130064369, LOC130064370, LOC130064371, LOC130064372, LOC130064373, LOC130064374, LOC130064375, LOC130064376, LOC130064377, LOC130064378, LOC130064379, LOC130064380, LOC130064381, LOC130064382, LOC130064383, LOC130064384, LOC130064385, LOC130064386, LOC130064387, LOC130064388, LOC130064389, LOC117125592, LOC117125593, LOC117125594, LOC117125595, LOC117125596, LOC117125597, LOC117125598, LOC121627856, LOC121627857, LOC121627858, LOC121627859, LOC121627860, LOC121627861, LOC121627862, LOC121627863, LOC121627864, LOC121627865, LOC121627866, LOC121627867, LOC121627868, LOC121627869, LOC121627870, LOC121627871, LOC121627872, LOC121627873, LOC121627874, LOC121627875, LOC121627876, LOC121627877, LOC121852977, LOC121852978, LOC121852979, LOC121852980, LOC121852981, LOC121852982, LOC121852983, LOC121852984, LOC121852985, LOC121852986, LOC121852987, LOC121852988, LOC125371478, LOC125371479, LOC125371480, LOC125371481, LOC125371482, LOC125371483, LOC125371484, LOC125371486, LOC125371487, LOC125371488, LOC125371489, LOC125371491, LOC125371492, LOC125371493, LOC125371494, LOC125371495, LOC125371496, LOC125371497, LOC125371498, LOC125371499, LOC125371500, LOC125371501, LOC125371502, LOC125371503, LOC125371504, LOC125371505, LOC125371506, LOC125371507, LOC125371509, LOC125371510, LOC125371511, LOC125371513, LOC125371514, LOC125371515, LOC125371516, LOC125371517, LOC125371518, LOC125371519, LOC125371520, LOC125371521, LOC125371522, LOC125371523, LOC125371524, LOC125371525, LOC126862857, LOC126862858, LOC126862859, LOC126862860, LOC126862861, LOC126862862, LOC126862863, LOC126862864, LOC126862865, LOC126862866, LOC126862867, LOC126862868, LOC126862869, LOC126862870, LOC126862871, LOC126862872, LOC126862873, LOC126862874, LOC126862875, LOC126862876, LOC126862877, LOC126862878, LOC126862879, LOC126862880, LOC126862881, LOC126862882, LOC126862883, LOC126862884, LOC126862885, LOC126862886, LOC126862887, LOC126862888, LOC126862889, LOC126862890, LOC126862891, LOC126862892, LOC126862893, LOC126862894, LOC126862895, LOC126862896, LOC126862897, LOC126862898, LOC126862899, LOC126862900, LOC126862901, LOC126862902, LOC126862903, LOC126862904, LOC126862905, LOC126862906, LOC126862907, LOC126862908, LOC126862909, LOC126862910, LOC126862911, LOC126862912, LOC128598884, LOC128854698, LOC129391061, LOC129391062, LOC129391063, LOC129391064, LOC129391065, LOC129391066, LOC129391067, LOC129391068, LOC129391069, LOC129391070, LOC129391071, LOC129391072, LOC129391073, LOC129391074, LOC129391075, LOC129391076, LOC129391077, LOC129391078, LOC129391079, LOC129391080, LOC129391081, LOC129391082, LOC129391083, LOC129391084, LOC129391085, LOC129391086, LOC129391087, LOC129391088, LOC129391089, LOC129391090, LOC129391091, LOC129391092, LOC129391093, LOC129391094, LOC129391095, LOC129391096, LOC129391097, LOC129391098, LOC129391099, LOC129391100, LOC129391101, LOC129391102, LOC129391103, LOC129391104, LOC129391105, LOC129391106, LOC129391107, LOC129391108, LOC129391109, LOC129391110, LOC129391111, LOC129391112, LOC129391113, LOC129391114, LOC129391115, LOC129391116, LOC129391117, LOC129391118, LOC129391119, LOC129391120, LOC130063559, LOC130063560, LOC130063561, LOC130063562, LOC130063563, LOC130063564, LOC130063565, LOC130063566, LOC130063567, LOC130063568, LOC130063569, LOC130063570, LOC130063571, LOC130063572, LOC130063573, LOC130063574, LOC130063575, LOC130063576, LOC130063577, LOC130063578, LOC130063579, LOC130063580, LOC130063581, LOC130063582, LOC130063583, LOC130063584, LOC130063585, LOC130063586, LOC130063587, LOC130063588, LOC130063589, LOC130063590, LOC130063591, LOC130063592, LOC130063593, LOC130063594, LOC130063595, LOC130063596, LOC130063597, LOC130063598, LOC130063599, LOC130063600, LOC130063601, LOC130063602, LOC130063603, LOC130063604, LOC130063605, LOC130063606, LOC130063607, LOC130063608, LOC130063609, LOC130063610, LOC130063611, LOC130063612, LOC130063613, LOC130063614, LOC130063615, LOC130063616, LOC130063617, LOC130063618, LOC130063619, LOC130063620, LOC130063621, LOC130063622, LOC130063623, LOC130063624, LOC130063625, LOC130063626, LOC130063627, LOC130063628, LOC130063629, LOC130063630, LOC130063631, LOC130063632, LOC130063633, LOC130063634, LOC130063635, LOC130063636, LOC130063637, LOC130063638, LOC130063639, LOC130063640, LOC130063641, LOC130063642, LOC130063643, LOC130063644, LOC130063645, LOC130063646, LOC130063647, LOC130063648, LOC130063649, LOC130063650, LOC130063651, LOC130063652, LOC130063653, LOC130063654, LOC130063655, LOC130063656, LOC130063657, LOC130063658, LOC130063659, LOC130063660, LOC130063661, LOC130063662, LOC130063663, LOC130063664, LOC130063665, LOC130063666, LOC130063667, LOC130063668, LOC130063669, LOC130063670, LOC130063671, LOC130063672, LOC130063673, LOC130063674, LOC130063675, LOC130063676, LOC130063677, LOC130063678, LOC130063679, LOC130063680, LOC130063681, LOC130063682, LOC130063683, LOC130063684, LOC130063685, LOC130063686, LOC130063687, LOC130063688, LOC130063689, LOC130063690, LOC130063691, LOC130063692, LOC130063693, LOC130063694, LOC130063695, LOC130063696, LOC130063697, LOC130063698, LOC130063699, LOC130063700, LOC130063701, LOC130063702, LOC130063703, LOC130063704, LOC130063705, LOC130063706, LOC130063707, LOC130063708, LOC130063709, LOC130063710, LOC130063711, LOC130063712, LOC130063713, LOC130063714, LOC130063715, LOC130063716, LOC130063717, LOC130063718, LOC130063719, LOC130063720, LOC130063721, LOC130063722, LOC130063723, LOC130063724, LOC130063725, LOC130063726, LOC130063727, LOC130063728, LOC130063729, LOC130063730, LOC130063731, LOC130063732, LOC130063733, LOC130063734, LOC130063735, LOC130063736, LOC130063737, LOC130063738, LOC130063739, LOC130063740, LOC130063741, LOC130063742, LOC130063743, LOC130063744, LOC130063745, LOC130063746, LOC130063747, LOC130063748, LOC130063749, LOC130063750, LOC130063751, LOC130063752, LOC130063753, LOC130063754, LOC130063755, LOC130063756, LOC130063757, LOC130063758, LOC130063759, LOC130063760, LOC130063761, LOC130063762, LOC130063763, LOC130063764, LOC130063765, LOC130063766, LOC130063767, LOC130063768, LOC130063769, LOC130063770, LOC130063771, LOC130063772, LOC130063773, LOC130063774, LOC130063775, LOC130063776, LOC130063777, LOC130063778, LOC130063779, LOC130063780, LOC130063781, LOC130063782, LOC130063783, LOC130063784, LOC130063785, LOC130063786, LOC130063787, LOC130063788, LOC130063789, LOC130063790, LOC130063791, LOC130063792, LOC130063793, LOC130063794, LOC130063795, LOC130063796, LOC130063797, LOC130063798, LOC130063799, LOC130063800, LOC130063801, LOC130063802, LOC130063803, LOC130063804, LOC130063805, LOC130063806, LOC130063807, LOC130063808, LOC130063809, LOC130063810, LOC130063811, LOC130063812, LOC130063813, LOC130063814, LOC130063815, LOC130063816, LOC130063817, LOC130063818, LOC130063819, LOC130063820, LOC130063821, LOC130063822, LOC130063823, LOC130063824, LOC130063825, LOC130063826, LOC130063827, LOC130063828, LOC130063829, LOC130063830, LOC130063831, LOC130063832, LOC130063833, LOC130063834, LOC130063835, LOC130063836, LOC130063837, LOC130063838, LOC130063839, LOC130063840, LOC130063841, LOC130063842, LOC130063843, LOC130063844, LOC130063845, LOC130063846, LOC130063847, LOC130063848, LOC130063849, LOC130063850, LOC130063851, LOC130063852, LOC130063853, LOC130063854, LOC130063855, LOC130063856, LOC130063857, LOC130063858, LOC130063859, LOC130063860, LOC130063861, LOC130063862, LOC130063863, LOC130063864, LOC130063865, LOC130063866, LOC130063867, LOC130063868, LOC130063869, LOC130063870, LOC130063871, LOC130063872, LOC130063873, LOC130063874, LOC130063875, LOC130063876, LOC130063877, ABHD8, ACP5, ACP7, ACTMAP, ACTN4, ADGRE2, ADGRE3, ADGRE5, ADGRL1, ADGRL1-AS1, AKAP8, AKAP8L, AKT2, ALKBH6, ANGPTL8, ANKLE1, ANKRD27, ANO8, AP1M1, APLP1, ARHGAP33, ARHGEF1, ARMC6, ARRDC2, ASF1B, ATP13A1, ATP1A3, ATP4A, AXL, B3GNT3, B3GNT8, B9D2, BABAM1, BCKDHA, BEST2, BISPR, BLVRB, BORCS8, BORCS8-MEF2B, BRD4, BRME1, BST2, C19orf12, C19orf33, C19orf44, C19orf47, C19orf53, C19orf67, CACNA1A, CADM4, CALR, CALR3, CAPN12, CAPNS1, CASP14, CATSPERG, CC2D1A, CCDC124, CCDC159, CCDC194, CCDC97, CCER2, CCNE1, CCNP, CD177, CD22, CD79A, CEACAM1, CEACAM20, CEACAM21, CEACAM3, CEACAM4, CEACAM5, CEACAM6, CEACAM7, CEACAM8, CEBPA, CEBPA-DT, CEBPG, CEP89, CERS1, CHERP, CHST8, CIB3, CIC, CILP2, CIST1, CLC, CLEC17A, CLIP3, CNFN, CNN1, COLGALT1, COMP, COPE, COQ8B, COX6B1, COX7A1, CPAMD8, CRLF1, CRTC1, CXCL17, CYP2A13, CYP2A6, CYP2A7, CYP2B6, CYP2F1, CYP2S1, CYP4F11, CYP4F12, CYP4F2, CYP4F22, CYP4F3, CYP4F8, DAND5, DCAF15, DDA1, DDX39A, DDX49, DEDD2, DHPS, DLL3, DMAC2, DMKN, DMRTC2, DNAJB1, DNASE2, DOCK6, DPF1, DPY19L3, DPY19L3-DT, DYRK1B, ECH1, ECSIT, EGLN2, EID2, EID2B, EIF3K, ELAVL3, ELL, ELOF1, EPHX3, EPOR, EPS15L1, ERF, ERFL, ERICH4, ERVK-19, ERVS71-1, ETHE1, ETV2, EXOSC5, F2RL3, FAAP24, FAM187B, FAM32A, FAM98C, FARSA, FARSA-AS1, FBL, FBXO17, FBXO27, FBXW9, FCGBP, FCHO1, FFAR1, FFAR2, FFAR3, FKBP8, FXYD1, FXYD3, FXYD5, FXYD7, GADD45GIP1, GAPDHS, GARRE1, GATAD2A, GCDH, GDF1, GDF15, GET3, GGN, GIPC1, GMFG, GMIP, GNG14, GPATCH1, GPI, GPR42, GRAMD1A, GRIK5, GSK3A, GTPBP3, HAMP, HAPLN4, HAUS5, HAUS5-DT, HAUS8, HCST, HIPK4, HNRNPL, HNRNPUL1, HOMER3, HOMER3-AS1, HOOK2, HPN, HPN-AS1, HSH2D, HSPB6, HSPC102, IER2, IFI30, IFNL1, IFNL2, IFNL3, IFNL4, IGFLR1, IGSF23, IL12RB1, IL27RA, ILVBL, ILVBL-AS1, INSL3, IQCN, IRGC, IRGQ, ISYNA1, ITPKC, JAK3, JUNB, JUND, KCNK6, KCNN1, KCNN4, KCTD15, KIRREL2, KLF1, KLF2, KLF2-DT, KLHL26, KMT2B, KRTDAP, KXD1, LEUTX, LGALS13, LGALS14, LGALS16, LGALS4, LGALS7, LGALS7B, LGI4, LIN37, LINC00661, LINC00662, LINC00663, LINC00664, LINC00665, LINC00904, LINC00905, LINC00906, LINC01224, LINC01233, LINC01480, LINC01529, LINC01531, LINC01532, LINC01533, LINC01535, LINC01766, LINC01782, LINC01785, LINC01791, LINC01801, LINC01834, LINC01838, LINC01841, LINC01842, LINC01855, LINC01858, LINC01859, LINC02841, LINC02926, LINC02965, LINC02987, LINC03049, LINC03078, LINC03085, LINC03103, LIPE, LIPE-AS1, LNROP, LOC100134317, LOC100505715, LOC100505851, LOC101927522, LOC101927572, LOC101929124, LOC101930071, LOC102724908, LOC102724958, LOC102725254, LOC105372281, LOC105372321, LOC105372383, LOC105372394, LOC105376917, LOC106783503, LOC108663985, LOC110120869, LOC110120870, LOC110120871, LOC110120872, LOC110120873, LOC110120875, LOC110120890, LOC110120927, LOC110120942, LOC110121458, LOC110121465, LOC110599575, LOC110599577, LOC110673974, LOC111365151, LOC111365153, LOC111365163, LOC111413028, LOC111501767, LOC111811970, LOC112543445, LOC112543446, LOC112543448, LOC112543452, LOC112543454, LOC112543455, LOC112543458, LOC112543459, LOC112543461, LOC112543462, LOC112543463, LOC112543464, LOC112543465, LOC112543466, LOC112543467, LOC112543468, LOC112543469, LOC112543470, LOC112543471, LOC112543472, LOC112543473, LOC112543479, LOC112543483, LOC112543484, LOC112543485, LOC112543486, LOC112543487, LOC112543488, LOC112543489, LOC112552149, LOC112552150, LOC112552151, LOC112552152, LOC112552153, LOC112552154, LOC112552155, LOC112552156, LOC113939968, LOC113939969, LOC113939973, LOC116276503, LOC116276504, LOC116276505, LOC116276506, LOC116276507, LOC116276508, LOC116276509, LOC116276510, LOC116276511, LOC116276512, LOC116276513, LOC116276514, LOC116276515, LOC116286188, LOC116286189, LOC117038783, LOC117038785, LOC117038786, LOC117038787, LOC117038788, LOC117038789, LOC117038790, LOC117038791, LOC117038792, LOC117038793, LOC117038794, LOC117038795, LOC117125585, LOC117125586, LOC117125587, LOC117125588, LOC117125589, LOC117125590, LOC117125591, TRIR, TRMT1, TRT-AGT1-3, TSHZ3, TSPAN16, TSSK6, TTC9B, TYROBP, U2AF1L4, UBA2, UBA52, UCA1, UCA1-AS1, UNC13A, UPF1, UPK1A, UPK1A-AS1, UQCRFS1, UQCRFS1-DT, URI1, USE1, USF2, USHBP1, VSTM2B, VSTM2B-DT, WDR62, WDR83, WDR83OS, WDR87, WDR87BP, WDR88, WIZ, WTIP, XRCC1, YIF1B, YJEFN3, YJU2B, ZBTB32, ZFP14, ZFP30, ZFP36, ZFP82, ZNF100, ZNF101, ZNF112, ZNF136, ZNF14, ZNF146, ZNF155, ZNF180, ZNF181, ZNF20, ZNF208, ZNF221, ZNF222, ZNF222-DT, ZNF223, ZNF224, ZNF225, ZNF225-AS1, ZNF226, ZNF227, ZNF229, ZNF230, ZNF230-DT, ZNF233, ZNF234, ZNF235, ZNF253, ZNF254, ZNF257, ZNF260, ZNF283, ZNF284, ZNF285, ZNF30, ZNF30-AS1, ZNF302, ZNF333, ZNF345, ZNF382, ZNF383, ZNF404, ZNF420, ZNF428, ZNF429, ZNF43, ZNF430, ZNF431, ZNF433, ZNF433-AS1, ZNF439, ZNF44, ZNF440, ZNF441, ZNF442, ZNF443, ZNF45, ZNF45-AS1, ZNF461, ZNF486, ZNF490, ZNF491, ZNF492, ZNF493, ZNF506, ZNF507, ZNF526, ZNF527, ZNF529, ZNF529-AS1, ZNF536, ZNF540, ZNF546, ZNF563, ZNF564, ZNF565, ZNF566, ZNF566-AS1, ZNF567, ZNF567-DT, ZNF568, ZNF569, ZNF570, ZNF571, ZNF571-AS1, ZNF573, ZNF574, ZNF575, ZNF576, ZNF585A, ZNF585B, ZNF599, ZNF607, ZNF625, ZNF625-ZNF20, ZNF626, ZNF627, ZNF653, ZNF66, ZNF675, ZNF676, ZNF681, ZNF682, ZNF69, ZNF700, ZNF708, ZNF709, ZNF714, ZNF723, ZNF724, ZNF726, ZNF728, ZNF729, ZNF730, ZNF737, ZNF738, ZNF763, ZNF780A, ZNF780B, ZNF781, ZNF790, ZNF790-AS1, ZNF791, ZNF792, ZNF793, ZNF793-AS1, ZNF799, ZNF823, ZNF829, ZNF844, ZNF85, ZNF850, ZNF875, ZNF878, ZNF90, ZNF91, ZNF93, ZNF98, ZNF99, ZSWIM4
See casesPathogenic
(Mar 30, 2010)
no assertion criteria provided
2.
GRCh37:
Chr19:37810279-43242840
GRCh38:
Chr19:37319377-42738688
ACP7, ACTMAP, ACTN4, AKT2, ARHGEF1, ATP1A3, AXL, B3GNT8, B9D2, BCKDHA, BLVRB, C19orf33, C19orf47, CAPN12, CATSPERG, CCDC97, CCER2, CCNP, CD79A, CEACAM1, CEACAM21, CEACAM3, CEACAM4, CEACAM5, CEACAM6, CEACAM7, CEACAM8, CIC, CLC, CNFN, COQ8B, CXCL17, CYP2A13, CYP2A6, CYP2A7, CYP2B6, CYP2F1, CYP2S1, DEDD2, DLL3, DMAC2, DMRTC2, DPF1, DYRK1B, ECH1, EGLN2, EID2, EID2B, EIF3K, ERF, ERFL, ERICH4, EXOSC5, FAM98C, FBL, FBXO17, FBXO27, FCGBP, GGN, GMFG, GRIK5, GSK3A, HIPK4, HNRNPL, HNRNPUL1, IFNL1, IFNL2, IFNL3, IFNL4, ITPKC, KCNK6, LEUTX, LGALS13, LGALS14, LGALS16, LGALS4, LGALS7, LGALS7B, LINC01480, LIPE, LIPE-AS1, LNROP, LOC101930071, LOC105372394, LOC110121465, LOC110599575, LOC110599577, LOC110673974, LOC111501767, LOC111811970, LOC112543488, LOC112543489, LOC112552149, LOC112552150, LOC112552151, LOC112552152, LOC112552153, LOC113939973, LOC116276514, LOC116276515, LOC121627872, LOC121627873, LOC121627874, LOC121627875, LOC121627876, LOC121627877, LOC121852987, LOC121852988, LOC125371510, LOC125371511, LOC125371513, LOC125371514, LOC125371515, LOC125371516, LOC125371517, LOC125371518, LOC125371519, LOC125371520, LOC125371521, LOC125371522, LOC125371523, LOC125371524, LOC126862900, LOC126862901, LOC126862902, LOC126862903, LOC126862904, LOC126862905, LOC126862906, LOC126862907, LOC126862908, LOC126862909, LOC126862910, LOC126862911, LOC126862912, LOC129391103, LOC129391104, LOC129391105, LOC129391106, LOC129391107, LOC129391108, LOC129391109, LOC129391110, LOC129391111, LOC129391112, LOC129391113, LOC129391114, LOC129391115, LOC129391116, LOC129391117, LOC130064313, LOC130064314, LOC130064315, LOC130064316, LOC130064317, LOC130064318, LOC130064319, LOC130064320, LOC130064321, LOC130064322, LOC130064323, LOC130064324, LOC130064325, LOC130064326, LOC130064327, LOC130064328, LOC130064329, LOC130064330, LOC130064331, LOC130064332, LOC130064333, LOC130064334, LOC130064335, LOC130064336, LOC130064337, LOC130064338, LOC130064339, LOC130064340, LOC130064341, LOC130064342, LOC130064343, LOC130064344, LOC130064345, LOC130064346, LOC130064347, LOC130064348, LOC130064349, LOC130064350, LOC130064351, LOC130064352, LOC130064353, LOC130064354, LOC130064355, LOC130064356, LOC130064357, LOC130064358, LOC130064359, LOC130064360, LOC130064361, LOC130064362, LOC130064363, LOC130064364, LOC130064365, LOC130064366, LOC130064367, LOC130064368, LOC130064369, LOC130064370, LOC130064371, LOC130064372, LOC130064373, LOC130064374, LOC130064375, LOC130064376, LOC130064377, LOC130064378, LOC130064379, LOC130064380, LOC130064381, LOC130064382, LOC130064383, LOC130064384, LOC130064385, LOC130064386, LOC130064387, LOC130064388, LOC130064389, LOC130064390, LOC130064391, LOC130064392, LOC130064393, LOC130064394, LOC130064395, LOC130064396, LOC130064397, LOC130064398, LOC130064399, LOC130064400, LOC130064401, LOC130064402, LOC130064403, LOC130064404, LOC130064405, LOC130064406, LOC130064407, LOC130064408, LOC130064409, LOC130064410, LOC130064411, LOC130064412, LOC130064413, LOC130064414, LOC130064415, LOC130064416, LOC130064417, LOC130064418, LOC130064419, LOC130064420, LOC130064421, LOC130064422, LOC130064423, LOC130064424, LOC130064425, LOC130064426, LOC130064427, LOC130064428, LOC130064429, LOC130064430, LOC130064431, LOC130064432, LOC130064433, LOC130064434, LOC130064435, LOC130064436, LOC130064437, LOC130064438, LOC130064439, LOC130064440, LOC130064441, LOC130064442, LOC130064443, LOC130064444, LOC130064445, LOC130064446, LOC130064447, LOC130064448, LOC130064449, LOC130064450, LOC130064451, LOC130064452, LOC130064453, LOC130064454, LOC130064455, LOC130064456, LOC130064457, LOC130064458, LOC130064459, LOC130064460, LOC130064461, LOC130064462, LOC130064463, LOC130064464, LOC130064465, LOC130064466, LOC130064467, LOC130064468, LOC130064469, LOC130064470, LOC130064471, LOC130064472, LOC130064473, LOC130064474, LOC130064475, LOC130064476, LOC130064477, LOC130064478, LOC130064479, LOC130064480, LOC130064481, LOC130064482, LOC130064483, LOC130064484, LOC130064485, LOC130064486, LOC130064487, LOC130064488, LOC130064489, LOC130064490, LOC130064491, LOC130064492, LOC130064493, LOC130064494, LOC130064495, LOC130064496, LOC130064497, LOC130064498, LOC130064499, LOC130064500, LOC130064501, LOC130064502, LOC130064503, LOC130064504, LOC130064505, LOC130064506, LOC130064507, LOC130064508, LOC130064509, LOC130064510, LOC130064511, LOC130064512, LOC130064513, LOC130064514, LOC130064515, LOC130064516, LOC130064517, LOC130064518, LOC130064519, LOC130064520, LOC130064521, LOC130064522, LOC130064523, LOC130064524, LOC130064525, LOC130064526, LOC130064527, LOC130064528, LOC130064529, LOC130064530, LOC130064531, LOC130064532, LOC130064533, LOC130064534, LOC130064535, LOC130064536, LOC130064537, LOC130064538, LOC130064539, LOC130064540, LOC130064541, LOC130064542, LOC130064543, LOC130064544, LOC130064545, LOC130064546, LOC130064547, LOC130064548, LOC130064549, LOC130064550, LOC130064551, LOC130064552, LOC130064553, LOC130064554, LOC130064555, LOC130064556, LOC130064557, LOC130064558, LOC130064559, LOC130064560, LOC130064561, LOC130064562, LOC130064563, LOC130064564, LOC130064565, LOC130064566, LOC130064567, LOC130064568, LOC130064569, LOC130064570, LOC130064571, LOC130064572, LOC130064573, LOC130064574, LOC130064575, LOC130064576, LOC130064577, LOC130064578, LOC130064579, LOC130064580, LOC130064581, LOC130064582, LOC130064583, LOC130064584, LOC130064585, LOC130064586, LOC130064587, LOC130064588, LOC130064589, LOC644554, LRFN1, LTBP4, LYPD4, MAP3K10, MAP4K1, MAP4K1-AS1, MED29, MEGF8, MIA, MIA-RAB4B, MIR4323, MIR4530, MIR641, MIR6719, MIR6796, MIR6797, MIR8077, MRPS12, NCCRP1, NFKBIB, NUMBL, PAF1, PAFAH1B3, PAK4, PCAT19, PLD3, PLEKHG2, POU2F2, POU2F2-AS2, PPP1R14A, PRR19, PRX, PSG3, PSMC4, PSMD8, RAB4B, RAB4B-EGLN2, RABAC1, RASGRP4, RINL, RPS16, RPS19, RYR1, SAMD4B, SARS2, SELENOV, SERTAD1, SERTAD3, SERTAD3-AS1, SHKBP1, SIPA1L3, SIRT2, SNORD152, SNORD175, SNRPA, SPINT2, SPRED3, SPTBN4, SUPT5H, SYCN, TGFB1, TIMM50, TMEM145, TMEM91, TRI-TAT1-1, TTC9B, WDR87, WDR87BP, YIF1B, ZFP30, ZFP36, ZNF526, ZNF527, ZNF540, ZNF546, ZNF569, ZNF570, ZNF571, ZNF571-AS1, ZNF573, ZNF574, ZNF607, ZNF780A, ZNF780B, ZNF781, ZNF793, ZNF793-AS1, ZNF875
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
3.
GRCh37:
Chr19:40872413-40872414
GRCh38:
Chr19:40366506-40366507
PLD3E9fsnot providedUncertain significance
(Dec 1, 2022)
criteria provided, single submitter
4.
GRCh37:
Chr19:40872539
GRCh38:
Chr19:40366632
PLD3P17LInborn genetic diseasesUncertain significance
(May 23, 2023)
criteria provided, single submitter
5.
GRCh37:
Chr19:40872540
GRCh38:
Chr19:40366633
PLD3not providedBenign
(Oct 22, 2022)
criteria provided, single submitter
6.
GRCh37:
Chr19:40872541
GRCh38:
Chr19:40366634
PLD3A18Tnot providedUncertain significance
(Aug 3, 2022)
criteria provided, single submitter
7.
GRCh37:
Chr19:40872566
GRCh38:
Chr19:40366659
PLD3I26Tnot providedUncertain significance
(Oct 3, 2022)
criteria provided, single submitter
8.
GRCh37:
Chr19:40872572
GRCh38:
Chr19:40366665
PLD3A28VInborn genetic diseasesUncertain significance
(Oct 12, 2021)
criteria provided, single submitter
9.
GRCh37:
Chr19:40872602
GRCh38:
Chr19:40366695
PLD3not providedLikely benign
(Sep 12, 2022)
criteria provided, single submitter
10.
GRCh37:
Chr19:40872663-40872665
GRCh38:
Chr19:40366756-40366758
PLD3not providedLikely benign
(Apr 25, 2022)
criteria provided, single submitter
11.
GRCh37:
Chr19:40872669
GRCh38:
Chr19:40366762
PLD3not providedLikely benign
(May 24, 2022)
criteria provided, single submitter
12.
GRCh37:
Chr19:40872727
GRCh38:
Chr19:40366820
PLD3not providedLikely benign
(Aug 31, 2022)
criteria provided, single submitter
13.
GRCh37:
Chr19:40872741
GRCh38:
Chr19:40366834
PLD3T55IInborn genetic diseasesUncertain significance
(Jun 11, 2021)
criteria provided, single submitter
14.
GRCh37:
Chr19:40872764
GRCh38:
Chr19:40366857
PLD3G63Snot providedBenign
(Aug 9, 2022)
criteria provided, single submitter
15.
GRCh37:
Chr19:40872766
GRCh38:
Chr19:40366859
PLD3not providedLikely benign
(Jun 29, 2022)
criteria provided, single submitter
16.
GRCh37:
Chr19:40872797
GRCh38:
Chr19:40366890
PLD3P74Snot providedUncertain significance
(Feb 6, 2022)
criteria provided, single submitter
17.
GRCh37:
Chr19:40872803
GRCh38:
Chr19:40366896
PLD3P76Anot providedBenign
(Jun 15, 2022)
criteria provided, single submitter
18.
GRCh37:
Chr19:40872809
GRCh38:
Chr19:40366902
PLD3Y78HInborn genetic diseasesUncertain significance
(Jan 5, 2022)
criteria provided, single submitter
19.
GRCh37:
Chr19:40872829
GRCh38:
Chr19:40366922
PLD3not providedLikely benign
(Aug 8, 2022)
criteria provided, single submitter
20.
GRCh37:
Chr19:40872834
GRCh38:
Chr19:40366927
PLD3not providedLikely benign
(Oct 1, 2022)
criteria provided, single submitter
21.
GRCh37:
Chr19:40873598
GRCh38:
Chr19:40367691
PLD3not providedLikely benign
(Sep 29, 2022)
criteria provided, single submitter
22.
GRCh37:
Chr19:40873598
GRCh38:
Chr19:40367691
PLD3not providedLikely benign
(Aug 17, 2022)
criteria provided, single submitter
23.
GRCh37:
Chr19:40873647
GRCh38:
Chr19:40367740
PLD3N97SInborn genetic diseasesUncertain significance
(May 1, 2022)
criteria provided, single submitter
24.
GRCh37:
Chr19:40873698
GRCh38:
Chr19:40367791
PLD3A114Vnot providedUncertain significance
(Nov 1, 2022)
criteria provided, single submitter
25.
GRCh37:
Chr19:40873704
GRCh38:
Chr19:40367797
PLD3A116VInborn genetic diseasesUncertain significance
(Jun 22, 2023)
criteria provided, single submitter
26.
GRCh37:
Chr19:40873705
GRCh38:
Chr19:40367798
PLD3not providedLikely benign
(Feb 1, 2023)
criteria provided, single submitter
27.
GRCh37:
Chr19:40873758
GRCh38:
Chr19:40367851
PLD3T134NInborn genetic diseasesUncertain significance
(Sep 16, 2021)
criteria provided, single submitter
28.
GRCh37:
Chr19:40873765
GRCh38:
Chr19:40367858
PLD3not providedLikely benign
(Oct 3, 2022)
criteria provided, single submitter
29.
GRCh37:
Chr19:40873767
GRCh38:
Chr19:40367860
PLD3Q137RInborn genetic diseasesUncertain significance
(Apr 18, 2023)
criteria provided, single submitter
30.
GRCh37:
Chr19:40875800
GRCh38:
Chr19:40369893
MIR6796, PLD3not providedBenign
(Nov 3, 2022)
criteria provided, single submitter
31.
GRCh37:
Chr19:40875810
GRCh38:
Chr19:40369903
PLD3, MIR6796not providedBenign
(Oct 24, 2022)
criteria provided, single submitter
32.
GRCh37:
Chr19:40875810
GRCh38:
Chr19:40369903
PLD3, MIR6796not providedBenign
(Nov 3, 2022)
criteria provided, single submitter
33.
GRCh37:
Chr19:40875811
GRCh38:
Chr19:40369904
MIR6796, PLD3not providedBenign
(Aug 11, 2022)
criteria provided, single submitter
34.
GRCh37:
Chr19:40875825
GRCh38:
Chr19:40369918
PLD3V147AInborn genetic diseases, not providedUncertain significance
(Jul 12, 2023)
criteria provided, multiple submitters, no conflicts
35.
GRCh37:
Chr19:40875856
GRCh38:
Chr19:40369949
PLD3not providedBenign
(Nov 1, 2022)
criteria provided, single submitter
36.
GRCh37:
Chr19:40875860
GRCh38:
Chr19:40369953
PLD3V159Mnot providedUncertain significance
(May 14, 2022)
criteria provided, single submitter
37.
GRCh37:
Chr19:40875934
GRCh38:
Chr19:40370027
PLD3not providedUncertain significance
(Mar 23, 2022)
criteria provided, single submitter
38.
GRCh37:
Chr19:40875943
GRCh38:
Chr19:40370036
PLD3not providedBenign
(Feb 9, 2022)
criteria provided, single submitter
39.
GRCh37:
Chr19:40875945
GRCh38:
Chr19:40370038
PLD3not providedLikely benign
(Aug 22, 2022)
criteria provided, single submitter
40.
GRCh37:
Chr19:40875998
GRCh38:
Chr19:40370091
PLD3not providedBenign
(Mar 27, 2022)
criteria provided, single submitter
41.
GRCh37:
Chr19:40876004
GRCh38:
Chr19:40370097
PLD3not providedLikely benign
(Oct 21, 2022)
criteria provided, single submitter
42.
GRCh37:
Chr19:40876068
GRCh38:
Chr19:40370161
PLD3H201LSpinocerebellar ataxia 46Uncertain significance
(Sep 1, 2022)
criteria provided, single submitter
43.
GRCh37:
Chr19:40876072
GRCh38:
Chr19:40370165
PLD3not providedLikely benign
(Jun 13, 2022)
criteria provided, single submitter
44.
GRCh37:
Chr19:40876081
GRCh38:
Chr19:40370174
PLD3W205*Spinocerebellar ataxia 46Uncertain significance
(Jan 1, 2019)
criteria provided, single submitter
45.
GRCh37:
Chr19:40876094
GRCh38:
Chr19:40370187
PLD3T210AInborn genetic diseasesUncertain significance
(Dec 19, 2022)
criteria provided, single submitter
46.
GRCh37:
Chr19:40876117
GRCh38:
Chr19:40370210
PLD3not providedLikely benign
(Aug 23, 2022)
criteria provided, single submitter
47.
GRCh37:
Chr19:40877595
GRCh38:
Chr19:40371688
PLD3V232Mnot providedBenign/Likely benign
(Sep 28, 2022)
criteria provided, multiple submitters, no conflicts
48.
GRCh37:
Chr19:40877597
GRCh38:
Chr19:40371690
PLD3not providedLikely benign
(Aug 13, 2022)
criteria provided, single submitter
49.
GRCh37:
Chr19:40877608
GRCh38:
Chr19:40371701
PLD3N236Snot providedUncertain significance
(Mar 11, 2022)
criteria provided, single submitter
50.
GRCh37:
Chr19:40877625
GRCh38:
Chr19:40371718
PLD3R242Gnot providedUncertain significance
(Oct 10, 2022)
criteria provided, single submitter
51.
GRCh37:
Chr19:40877626
GRCh38:
Chr19:40371719
PLD3R242Qnot providedUncertain significance
(Oct 19, 2022)
criteria provided, single submitter
52.
GRCh37:
Chr19:40877635
GRCh38:
Chr19:40371728
PLD3T245Nnot providedUncertain significance
(Jul 15, 2022)
criteria provided, single submitter
53.
GRCh37:
Chr19:40877666
GRCh38:
Chr19:40371759
PLD3not providedLikely benign
(Sep 23, 2022)
criteria provided, single submitter
54.
GRCh37:
Chr19:40877680
GRCh38:
Chr19:40371773
PLD3S260CInborn genetic diseasesUncertain significance
(Jun 22, 2021)
criteria provided, single submitter
55.
GRCh37:
Chr19:40877689
GRCh38:
Chr19:40371782
PLD3, LOC121852988S263Lnot providedUncertain significance
(Mar 25, 2022)
criteria provided, single submitter
56.
GRCh37:
Chr19:40877752
GRCh38:
Chr19:40371845
PLD3, LOC121852988N284Snot provided, not specifiedConflicting interpretations of pathogenicity
(Oct 1, 2022)
criteria provided, conflicting interpretations
57.
GRCh37:
Chr19:40877778
GRCh38:
Chr19:40371871
LOC121852988, PLD3A293Tnot providedUncertain significance
(May 28, 2022)
criteria provided, single submitter
58.
GRCh37:
Chr19:40877780
GRCh38:
Chr19:40371873
LOC121852988, PLD3not providedUncertain significance
(Feb 11, 2022)
criteria provided, single submitter
59.
GRCh37:
Chr19:40880375
GRCh38:
Chr19:40374468
PLD3not providedLikely benign
(Sep 19, 2022)
criteria provided, single submitter
60.
GRCh37:
Chr19:40880380
GRCh38:
Chr19:40374473
PLD3not providedLikely benign
(Oct 8, 2022)
criteria provided, single submitter
61.
GRCh37:
Chr19:40880407
GRCh38:
Chr19:40374500
PLD3C300Ynot providedBenign/Likely benign
(Jan 1, 2023)
criteria provided, multiple submitters, no conflicts
62.
GRCh37:
Chr19:40880420
GRCh38:
Chr19:40374513
PLD3not providedLikely benign
(Mar 11, 2022)
criteria provided, single submitter
63.
GRCh37:
Chr19:40880431
GRCh38:
Chr19:40374524
PLD3L308PSpinocerebellar ataxia 46Uncertain significance
(Oct 15, 2018)
criteria provided, single submitter
64.
GRCh37:
Chr19:40880438
GRCh38:
Chr19:40374531
PLD3not providedLikely benign
(Oct 2, 2022)
criteria provided, single submitter
65.
GRCh37:
Chr19:40880446
GRCh38:
Chr19:40374539
PLD3N313SInborn genetic diseasesUncertain significance
(Sep 14, 2023)
criteria provided, single submitter
66.
GRCh37:
Chr19:40880464
GRCh38:
Chr19:40374557
PLD3R319Qnot providedUncertain significance
(Aug 16, 2022)
criteria provided, single submitter
67.
GRCh37:
Chr19:40880539
GRCh38:
Chr19:40374632
PLD3not providedLikely benign
(Sep 27, 2022)
criteria provided, single submitter
68.
GRCh37:
Chr19:40882503
GRCh38:
Chr19:40376596
PLD3not providedLikely benign
(Aug 23, 2022)
criteria provided, single submitter
69.
GRCh37:
Chr19:40882534
GRCh38:
Chr19:40376627
PLD3not providedBenign
(Sep 12, 2022)
criteria provided, single submitter
70.
GRCh37:
Chr19:40882548
GRCh38:
Chr19:40376641
PLD3R351Qnot providedConflicting interpretations of pathogenicity
(Oct 1, 2022)
criteria provided, conflicting interpretations
71.
GRCh37:
Chr19:40882558
GRCh38:
Chr19:40376651
PLD3not providedBenign/Likely benign
(Oct 1, 2022)
criteria provided, multiple submitters, no conflicts
72.
GRCh37:
Chr19:40882567
GRCh38:
Chr19:40376660
PLD3not providedBenign
(Aug 26, 2022)
criteria provided, single submitter
73.
GRCh37:
Chr19:40882588
GRCh38:
Chr19:40376681
PLD3not providedBenign
(Oct 31, 2022)
criteria provided, single submitter
74.
GRCh37:
Chr19:40882606
GRCh38:
Chr19:40376699
PLD3not providedLikely benign
(Nov 1, 2022)
criteria provided, single submitter
75.
GRCh37:
Chr19:40882619
GRCh38:
Chr19:40376712
PLD3R375WInborn genetic diseasesUncertain significance
(Mar 25, 2022)
criteria provided, single submitter
76.
GRCh37:
Chr19:40882620
GRCh38:
Chr19:40376713
PLD3R375Qnot providedLikely benign
(Feb 1, 2023)
criteria provided, single submitter
77.
GRCh37:
Chr19:40882650
GRCh38:
Chr19:40376743
PLD3R385HInborn genetic diseasesUncertain significance
(Sep 1, 2021)
criteria provided, single submitter
78.
GRCh37:
Chr19:40882667
GRCh38:
Chr19:40376760
PLD3S391Pnot providedUncertain significance
(Sep 21, 2022)
criteria provided, single submitter
79.
GRCh37:
Chr19:40883679
GRCh38:
Chr19:40377772
PLD3not providedLikely benign
(Aug 23, 2022)
criteria provided, single submitter
80.
GRCh37:
Chr19:40883702
GRCh38:
Chr19:40377795
PLD3V399MInborn genetic diseasesUncertain significance
(Feb 16, 2023)
criteria provided, single submitter
81.
GRCh37:
Chr19:40883717
GRCh38:
Chr19:40377810
PLD3E404KInborn genetic diseasesUncertain significance
(Nov 19, 2022)
criteria provided, single submitter
82.
GRCh37:
Chr19:40883736
GRCh38:
Chr19:40377829
PLD3P410LInborn genetic diseasesUncertain significance
(Dec 5, 2022)
criteria provided, single submitter
83.
GRCh37:
Chr19:40883740
GRCh38:
Chr19:40377833
PLD3not providedLikely benign
(Sep 23, 2022)
criteria provided, single submitter
84.
GRCh37:
Chr19:40883756
GRCh38:
Chr19:40377849
PLD3N417DInborn genetic diseasesUncertain significance
(Jun 3, 2022)
criteria provided, single submitter
85.
GRCh37:
Chr19:40883771
GRCh38:
Chr19:40377864
PLD3T422AInborn genetic diseasesUncertain significance
(Jan 20, 2023)
criteria provided, single submitter
86.
GRCh37:
Chr19:40883882
GRCh38:
Chr19:40377975
PLD3not providedLikely benign
(May 10, 2022)
criteria provided, single submitter
87.
GRCh37:
Chr19:40883895
GRCh38:
Chr19:40377988
PLD3T430Snot providedUncertain significance
(Sep 3, 2022)
criteria provided, single submitter
88.
GRCh37:
Chr19:40883896
GRCh38:
Chr19:40377989
PLD3T430NInborn genetic diseasesUncertain significance
(Aug 2, 2022)
criteria provided, single submitter
89.
GRCh37:
Chr19:40883933
GRCh38:
Chr19:40378026
PLD3not provided, not specifiedBenign/Likely benign
(Apr 1, 2023)
criteria provided, multiple submitters, no conflicts
90.
GRCh37:
Chr19:40883962
GRCh38:
Chr19:40378055
PLD3G452Enot providedBenign
(Aug 30, 2022)
criteria provided, single submitter
91.
GRCh37:
Chr19:40883976
GRCh38:
Chr19:40378069
PLD3R457Wnot providedUncertain significance
(Oct 14, 2022)
criteria provided, single submitter
92.
GRCh37:
Chr19:40883977
GRCh38:
Chr19:40378070
PLD3R457QInborn genetic diseasesUncertain significance
(May 17, 2023)
criteria provided, single submitter
93.
GRCh37:
Chr19:40884013
GRCh38:
Chr19:40378106
PLD3D469GInborn genetic diseasesUncertain significance
(Feb 15, 2023)
criteria provided, single submitter
94.
GRCh37:
Chr19:40884062
GRCh38:
Chr19:40378155
PLD3not providedLikely benign
(Oct 23, 2022)
criteria provided, single submitter
95.
GRCh37:
Chr19:40884070
GRCh38:
Chr19:40378163
PLD3R488Hnot providedUncertain significance
(Nov 1, 2022)
criteria provided, single submitter
96.
GRCh37:
Chr19:40900180-40900182
GRCh38:
Chr19:40394273-40394275
PLD3, PRXE1361delCharcot-Marie-Tooth disease, not provided, Charcot-Marie-Tooth disease type 4F,
Spinocerebellar ataxia 46, Charcot-Marie-Tooth disease type 4, not specified
Benign
(Nov 4, 2022)
criteria provided, multiple submitters, no conflicts
97.
GRCh37:
Chr19:40900672
GRCh38:
Chr19:40394765
PRX, PLD3G1196fsSpinocerebellar ataxia 46Pathogenic
(May 28, 2019)
criteria provided, single submitter
98.
GRCh37:
Chr19:40900880
GRCh38:
Chr19:40394973
PLD3, PRXK1127*Charcot-Marie-Tooth disease type 4, Spinocerebellar ataxia 46, Progressive gait ataxia,
Progressive peripheral neuropathy
Pathogenic/Likely pathogenic
(Jun 13, 2022)
criteria provided, multiple submitters, no conflicts
99.
GRCh37:
Chr19:40901061
GRCh38:
Chr19:40395154
PLD3, PRXF1066fsSpinocerebellar ataxia 46, Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease type 4,
not provided
Pathogenic/Likely pathogenic
(May 25, 2022)
criteria provided, multiple submitters, no conflicts
100.
GRCh37:
Chr19:40882496-41135455
BLVRB, HIPK4, LTBP4, PLD3, PRX, SERTAD1, SERTAD3, SHKBP1, SPTBN4not providedUncertain significance
(Aug 8, 2022)
criteria provided, single submitter
Format
Items per page
Sort by
Choose Destination