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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.
GRCh38:
Chr19:41608672-44315856
ARHGEF1, ATP1A3, CADM4, CD177, CD79A, CEACAM1, CEACAM3, CEACAM4, CEACAM5, CEACAM6, CEACAM7, CEACAM8, CIC, CNFN, CXCL17, DEDD2, DMRTC2, ERF, ERFL, ETHE1, GRIK5, GSK3A, IRGC, IRGQ, KCNN4, LINC03078, LIPE, LIPE-AS1, LNROP, LOC100505715, LOC101930071, LOC111501767, LOC111811970, LOC112552154, LOC112552155, LOC116286188, LOC116286189, LOC125371523, LOC125371524, LOC126862912, LOC128598884, LOC129391115, LOC129391116, LOC129391117, 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, LOC284344, LYPD3, LYPD4, LYPD5, MEGF8, MIR4323, MIR6797, MIR8077, PAFAH1B3, PHLDB3, PINLYP, PLAUR, POU2F2, POU2F2-AS2, PRG1, PRR19, PSG1, PSG11, PSG11-AS1, PSG2, PSG3, PSG4, PSG5, PSG6, PSG7, PSG8, PSG8-AS1, PSG9, RABAC1, RPS19, SMG9, SRRM5, TEX101, TMEM145, XRCC1, ZNF155, ZNF221, ZNF222, ZNF222-DT, ZNF223, ZNF224, ZNF225, ZNF225-AS1, ZNF226, ZNF227, ZNF230, ZNF230-DT, ZNF233, ZNF234, ZNF235, ZNF283, ZNF284, ZNF404, ZNF428, ZNF45, ZNF45-AS1, ZNF526, ZNF574, ZNF575, ZNF576
SchizophreniaLikely pathogenic
(Mar 20, 2018)
criteria provided, single submitter
4.
GRCh37:
Chr19:42364021
GRCh38:
Chr19:41859951
RPS19Diamond-Blackfan anemia 1Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
5.
GRCh37:
Chr19:42364072
GRCh38:
Chr19:41860002
RPS19Diamond-Blackfan anemia 1Benign
(Jan 13, 2018)
criteria provided, single submitter
6.
GRCh37:
Chr19:42364086
GRCh38:
Chr19:41860016
RPS19Diamond-Blackfan anemia 1Benign
(Jan 12, 2018)
criteria provided, single submitter
7.
GRCh37:
Chr19:42364126
GRCh38:
Chr19:41860056
RPS19Diamond-Blackfan anemia 1Benign
(Jan 13, 2018)
criteria provided, single submitter
8.
GRCh37:
Chr19:42364170
GRCh38:
Chr19:41860100
RPS19Diamond-Blackfan anemia 1Uncertain significance
(Jan 12, 2018)
criteria provided, single submitter
9.
GRCh37:
Chr19:42364193
GRCh38:
Chr19:41860123
RPS19not providedUncertain significance
(Jan 18, 2020)
criteria provided, single submitter
10.
GRCh37:
Chr19:42364209
GRCh38:
Chr19:41860139
RPS19Diamond-Blackfan anemia 1Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
11.
GRCh37:
Chr19:42364213-42364214
GRCh38:
Chr19:41860143-41860144
RPS19not provided, Congenital hypoplastic anemiaBenign
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
12.
GRCh37:
Chr19:42364221
GRCh38:
Chr19:41860151
RPS19Congenital hypoplastic anemiaUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
13.
GRCh37:
Chr19:42364223
GRCh38:
Chr19:41860153
RPS19not providedUncertain significance
(Nov 29, 2021)
criteria provided, single submitter
14.
GRCh37:
Chr19:42364286
GRCh38:
Chr19:41860216
RPS19Diamond-Blackfan anemia 1Uncertain significance
(Jan 12, 2018)
criteria provided, single submitter
15.
GRCh37:
Chr19:42364310
GRCh38:
Chr19:41860240
RPS19Diamond-Blackfan anemia 1Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
16.
GRCh37:
Chr19:42364334
GRCh38:
Chr19:41860264
RPS19Diamond-Blackfan anemia 1Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
17.
GRCh37:
Chr19:42364350
GRCh38:
Chr19:41860280
RPS19Diamond-Blackfan anemia 1Likely benign
(Jan 13, 2018)
criteria provided, single submitter
18.
GRCh37:
Chr19:42364373
GRCh38:
Chr19:41860303
RPS19Diamond-Blackfan anemia 1Uncertain significance
(Jan 12, 2018)
criteria provided, single submitter
19.
GRCh37:
Chr19:42364385
GRCh38:
Chr19:41860315
RPS19Congenital hypoplastic anemia, not providedBenign
(May 1, 2023)
criteria provided, multiple submitters, no conflicts
20.
GRCh37:
Chr19:42364395
GRCh38:
Chr19:41860325
RPS19not specifiedBenign
(Aug 8, 2016)
criteria provided, single submitter
21.
GRCh37:
Chr19:42364453
GRCh38:
Chr19:41860383
RPS19not providedBenign
(Mar 3, 2015)
criteria provided, single submitter
22.
GRCh37:
Chr19:42364612-42369681
GRCh38:
Chr19:41860542-41865612
RPS19Diamond-Blackfan anemia 1Pathogenic
(Nov 1, 2013)
no assertion criteria provided
23.
GRCh37:
Chr19:42364831
GRCh38:
Chr19:41860761
RPS19Diamond-Blackfan anemia 1Likely benign
(Aug 22, 2021)
criteria provided, multiple submitters, no conflicts
24.
GRCh37:
Chr19:42364832
GRCh38:
Chr19:41860762
RPS19Diamond-Blackfan anemia 1Benign/Likely benign
(Sep 14, 2021)
criteria provided, multiple submitters, no conflicts
25.
GRCh37:
Chr19:42364836
GRCh38:
Chr19:41860766
RPS19Diamond-Blackfan anemia 1Uncertain significance
(Mar 2, 2021)
criteria provided, single submitter
26.
GRCh37:
Chr19:42364836
GRCh38:
Chr19:41860766
RPS19Diamond-Blackfan anemia 1Likely benign
(Jan 12, 2018)
criteria provided, single submitter
27.
GRCh37:
Chr19:42364838
GRCh38:
Chr19:41860768
RPS19not specified, Diamond-Blackfan anemia 1Conflicting interpretations of pathogenicity
(Jan 12, 2018)
criteria provided, conflicting interpretations
28.
GRCh37:
Chr19:42364845
GRCh38:
Chr19:41860775
RPS19M1VDiamond-Blackfan anemia 1Uncertain significance
(May 22, 2022)
criteria provided, single submitter
29.
GRCh37:
Chr19:42364847
GRCh38:
Chr19:41860777
RPS19M1ICongenital hypoplastic anemiaPathogenic
(Aug 4, 2016)
criteria provided, single submitter
30.
GRCh37:
Chr19:42364847
GRCh38:
Chr19:41860777
RPS19M1ICongenital hypoplastic anemiaPathogenic
(Jul 29, 2022)
criteria provided, multiple submitters, no conflicts
31.
GRCh37:
Chr19:42364847
GRCh38:
Chr19:41860777
RPS19M1Inot provided, Diamond-Blackfan anemia 1, Congenital hypoplastic anemia
Pathogenic
(Aug 1, 2022)
criteria provided, multiple submitters, no conflicts
32.
GRCh37:
Chr19:42364850
GRCh38:
Chr19:41860780
RPS19Congenital hypoplastic anemiaLikely benign
(Apr 22, 2023)
criteria provided, multiple submitters, no conflicts
33.
GRCh37:
Chr19:42364854
GRCh38:
Chr19:41860784
RPS19V4FCongenital hypoplastic anemiaUncertain significance
(Aug 28, 2021)
criteria provided, single submitter
34.
GRCh37:
Chr19:42364856-42364857
GRCh38:
Chr19:41860786-41860787
RPS19T5fsCongenital hypoplastic anemiaPathogenic
(Dec 16, 2019)
criteria provided, multiple submitters, no conflicts
35.
GRCh37:
Chr19:42364859
GRCh38:
Chr19:41860789
RPS19Congenital hypoplastic anemiaLikely benign
(Aug 10, 2020)
criteria provided, single submitter
36.
GRCh37:
Chr19:42364860
GRCh38:
Chr19:41860790
RPS19Congenital hypoplastic anemiaPathogenic
(Aug 28, 2021)
criteria provided, single submitter
37.
GRCh37:
Chr19:42364862
GRCh38:
Chr19:41860792
RPS19D8fsCongenital hypoplastic anemiaPathogenic
(Jun 9, 2017)
criteria provided, single submitter
38.
GRCh37:
Chr19:42364864-42364866
GRCh38:
Chr19:41860794-41860796
RPS19not specifiedUncertain significance
(Aug 16, 2023)
criteria provided, single submitter
39.
GRCh37:
Chr19:42364868
GRCh38:
Chr19:41860798
RPS19Congenital hypoplastic anemiaLikely benign
(May 19, 2021)
criteria provided, single submitter
40.
GRCh37:
Chr19:42364878
GRCh38:
Chr19:41860808
RPS19Q12*Congenital hypoplastic anemiaPathogenic
(Apr 5, 2018)
criteria provided, single submitter
41.
GRCh37:
Chr19:42364887
GRCh38:
Chr19:41860817
RPS19V15Fnot providedPathogenic
(Aug 3, 2015)
criteria provided, single submitter
42.
GRCh37:
Chr19:42364893
GRCh38:
Chr19:41860823
RPS19A17TCongenital hypoplastic anemiaUncertain significance
(Mar 4, 2022)
criteria provided, single submitter
43.
GRCh37:
Chr19:42364893
GRCh38:
Chr19:41860823
RPS19A17Pnot providedLikely pathogenic
(Mar 26, 2021)
criteria provided, single submitter
44.
GRCh37:
Chr19:42364896
GRCh38:
Chr19:41860826
RPS19Congenital hypoplastic anemiaLikely benign
(May 28, 2022)
criteria provided, single submitter
45.
GRCh37:
Chr19:42364897
GRCh38:
Chr19:41860827
RPS19L18PCongenital hypoplastic anemiaPathogenic
(Sep 1, 2022)
criteria provided, single submitter
46.
GRCh37:
Chr19:42364901
GRCh38:
Chr19:41860831
RPS19Congenital hypoplastic anemiaLikely benign
(Sep 28, 2019)
criteria provided, single submitter
47.
GRCh37:
Chr19:42364901-42364902
GRCh38:
Chr19:41860831-41860832
RPS19F21fsCongenital hypoplastic anemiaPathogenic
(Aug 25, 2020)
criteria provided, single submitter
48.
GRCh37:
Chr19:42364904
GRCh38:
Chr19:41860834
RPS19not specified, not provided, Diamond-Blackfan anemia 1,
Congenital hypoplastic anemia
Benign/Likely benign
(Oct 28, 2022)
criteria provided, multiple submitters, no conflicts
49.
GRCh37:
Chr19:42364911
GRCh38:
Chr19:41860841
RPS19K24fsDiamond-Blackfan anemia 1Likely pathogenic
(Feb 23, 2023)
criteria provided, single submitter
50.
GRCh37:
Chr19:42364912
GRCh38:
Chr19:41860842
RPS19K23Rnot specified, not provided, Diamond-Blackfan anemia 1,
Congenital hypoplastic anemia
Conflicting interpretations of pathogenicity
(Nov 1, 2022)
criteria provided, conflicting interpretations
51.
GRCh37:
Chr19:42364916
GRCh38:
Chr19:41860846
RPS19Congenital hypoplastic anemiaLikely pathogenic
(Jul 14, 2021)
criteria provided, single submitter
52.
GRCh37:
Chr19:42364921
GRCh38:
Chr19:41860851
RPS19Diamond-Blackfan anemia 1Uncertain significance
(Apr 27, 2017)
criteria provided, single submitter
53.
GRCh37:
Chr19:42364924
GRCh38:
Chr19:41860854
RPS19Congenital hypoplastic anemiaUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
54.
GRCh37:
Chr19:42364934
GRCh38:
Chr19:41860864
RPS19Congenital hypoplastic anemiaLikely benign
(Aug 19, 2022)
criteria provided, single submitter
55.
GRCh37:
Chr19:42365089
GRCh38:
Chr19:41861020
RPS19Congenital hypoplastic anemiaLikely benign
(Jan 18, 2016)
criteria provided, single submitter
56.
GRCh37:
Chr19:42365164
GRCh38:
Chr19:41861095
RPS19Diamond-Blackfan anemia 1, Congenital hypoplastic anemiaBenign/Likely benign
(Apr 30, 2022)
criteria provided, multiple submitters, no conflicts
57.
GRCh37:
Chr19:42365166
GRCh38:
Chr19:41861097
RPS19Congenital hypoplastic anemiaLikely benign
(May 24, 2022)
criteria provided, single submitter
58.
GRCh37:
Chr19:42365166
GRCh38:
Chr19:41861097
RPS19not specified, Congenital hypoplastic anemia, Diamond-Blackfan anemia 1
Conflicting interpretations of pathogenicity
(Aug 13, 2021)
criteria provided, conflicting interpretations
59.
GRCh37:
Chr19:42365171
GRCh38:
Chr19:41861102
RPS19Congenital hypoplastic anemiaLikely benign
(Aug 4, 2017)
criteria provided, single submitter
60.
GRCh37:
Chr19:42365172
GRCh38:
Chr19:41861103
RPS19Congenital hypoplastic anemiaUncertain significance
(Aug 20, 2014)
criteria provided, single submitter
61.
GRCh37:
Chr19:42365180
GRCh38:
Chr19:41861111
RPS19not providedLikely pathogenic
(Jun 1, 2021)
criteria provided, single submitter
62.
GRCh37:
Chr19:42365180
GRCh38:
Chr19:41861111
RPS19Congenital hypoplastic anemiaLikely pathogenic
(Aug 26, 2021)
criteria provided, single submitter
63.
GRCh37:
Chr19:42365184
GRCh38:
Chr19:41861115
RPS19Congenital hypoplastic anemiaLikely benign
(Sep 20, 2020)
criteria provided, single submitter
64.
GRCh37:
Chr19:42365184
GRCh38:
Chr19:41861115
RPS19Diamond-Blackfan anemia 1, Congenital hypoplastic anemiaLikely benign
(May 20, 2022)
criteria provided, multiple submitters, no conflicts
65.
GRCh37:
Chr19:42365188
GRCh38:
Chr19:41861119
RPS19K27*Congenital hypoplastic anemiaPathogenic
(Jun 23, 2016)
criteria provided, single submitter
66.
GRCh37:
Chr19:42365189
GRCh38:
Chr19:41861120
RPS19K27RCongenital hypoplastic anemiaUncertain significance
(Jul 29, 2022)
criteria provided, single submitter
67.
GRCh37:
Chr19:42365196
GRCh38:
Chr19:41861127
RPS19Congenital hypoplastic anemiaLikely benign
(Oct 9, 2018)
criteria provided, single submitter
68.
GRCh37:
Chr19:42365199
GRCh38:
Chr19:41861130
RPS19Congenital hypoplastic anemiaLikely benign
(May 3, 2022)
criteria provided, single submitter
69.
GRCh37:
Chr19:42365202
GRCh38:
Chr19:41861133
RPS19Congenital hypoplastic anemiaLikely benign
(Nov 5, 2020)
criteria provided, single submitter
70.
GRCh37:
Chr19:42365203
GRCh38:
Chr19:41861134
RPS19E32*not provided, Congenital hypoplastic anemiaPathogenic
(Feb 9, 2023)
criteria provided, multiple submitters, no conflicts
71.
GRCh37:
Chr19:42365207
GRCh38:
Chr19:41861138
RPS19W33*Diamond-Blackfan anemia 1, Congenital hypoplastic anemiaPathogenic
(Aug 12, 2021)
criteria provided, multiple submitters, no conflicts
72.
GRCh37:
Chr19:42365208
GRCh38:
Chr19:41861139
RPS19W33*Congenital hypoplastic anemiaPathogenic
(Aug 26, 2021)
criteria provided, single submitter
73.
GRCh37:
Chr19:42365210
GRCh38:
Chr19:41861141
RPS19V34fsCongenital hypoplastic anemiaPathogenic
(Apr 21, 2022)
criteria provided, single submitter
74.
GRCh37:
Chr19:42365213-42365214
GRCh38:
Chr19:41861144-41861145
RPS19T36fsnot providedPathogenic
(Mar 10, 2015)
criteria provided, single submitter
75.
GRCh37:
Chr19:42365215
GRCh38:
Chr19:41861146
RPS19T36ADiamond-Blackfan anemia 1Uncertain significancecriteria provided, single submitter
76.
GRCh37:
Chr19:42365217
GRCh38:
Chr19:41861148
RPS19Congenital hypoplastic anemiaLikely benign
(Feb 19, 2022)
criteria provided, single submitter
77.
GRCh37:
Chr19:42365218
GRCh38:
Chr19:41861149
RPS19V37FCongenital hypoplastic anemiaUncertain significance
(Jan 11, 2016)
criteria provided, single submitter
78.
GRCh37:
Chr19:42365221
GRCh38:
Chr19:41861152
RPS19K38QCongenital hypoplastic anemiaUncertain significance
(Jul 6, 2017)
criteria provided, single submitter
79.
GRCh37:
Chr19:42365223
GRCh38:
Chr19:41861154
RPS19Congenital hypoplastic anemiaLikely benign
(Jul 3, 2022)
criteria provided, single submitter
80.
GRCh37:
Chr19:42365229
GRCh38:
Chr19:41861160
RPS19Congenital hypoplastic anemiaLikely benign
(Sep 7, 2022)
criteria provided, single submitter
81.
GRCh37:
Chr19:42365233
GRCh38:
Chr19:41861164
RPS19H42YDiamond-Blackfan anemia 1Uncertain significance
(Nov 26, 2021)
criteria provided, single submitter
82.
GRCh37:
Chr19:42365235
GRCh38:
Chr19:41861166
RPS19not providedLikely benign
(Jan 26, 2018)
criteria provided, single submitter
83.
GRCh37:
Chr19:42365236-42365237
GRCh38:
Chr19:41861167-41861168
RPS19K43fsnot providedPathogenic
(Feb 21, 2018)
criteria provided, single submitter
84.
GRCh37:
Chr19:42365237
GRCh38:
Chr19:41861168
RPS19K43RDiamond-Blackfan anemia 1, Congenital hypoplastic anemiaUncertain significance
(Dec 18, 2021)
criteria provided, multiple submitters, no conflicts
85.
GRCh37:
Chr19:42365238-42365239
GRCh38:
Chr19:41861169-41861170
RPS19E44fsnot providedPathogenic
(Aug 1, 2019)
criteria provided, single submitter
86.
GRCh37:
Chr19:42365241
GRCh38:
Chr19:41861172
RPS19Congenital hypoplastic anemiaLikely benign
(Sep 21, 2022)
criteria provided, single submitter
87.
GRCh37:
Chr19:42365243-42365244
GRCh38:
Chr19:41861174-41861175
RPS19no interpretation for the single variantno interpretation for the single variant
88.
GRCh37:
Chr19:42365243-42365244
Chr19:42365245-42365246
GRCh38:
Chr19:41861174-41861175
Chr19:41861176-41861177
RPS19, RPS19P47fsDiamond-Blackfan anemia 1Pathogenic
(Nov 1, 1999)
no assertion criteria provided
89.
GRCh37:
Chr19:42365245-42365246
GRCh38:
Chr19:41861176-41861177
RPS19P47fsno interpretation for the single variantno interpretation for the single variant
90.
GRCh37:
Chr19:42365248
GRCh38:
Chr19:41861179
RPS19P47Snot providedUncertain significance
(Nov 4, 2016)
criteria provided, single submitter
91.
GRCh37:
Chr19:42365249
GRCh38:
Chr19:41861180
RPS19P47LCongenital hypoplastic anemiaLikely pathogenic
(Jan 11, 2016)
criteria provided, single submitter
92.
GRCh37:
Chr19:42365250
GRCh38:
Chr19:41861181
RPS19Congenital hypoplastic anemiaLikely benign
(Oct 11, 2022)
criteria provided, single submitter
93.
GRCh37:
Chr19:42365268
GRCh38:
Chr19:41861199
RPS19Congenital hypoplastic anemiaLikely benign
(Mar 16, 2020)
criteria provided, single submitter
94.
GRCh37:
Chr19:42365271
GRCh38:
Chr19:41861202
RPS19Y54*Congenital hypoplastic anemiaPathogenic
(Aug 18, 2014)
criteria provided, single submitter
95.
GRCh37:
Chr19:42365273
GRCh38:
Chr19:41861204
RPS19T55Mnot provided, Diamond-Blackfan anemia 1, Congenital hypoplastic anemia
Uncertain significance
(Oct 7, 2022)
criteria provided, multiple submitters, no conflicts
96.
GRCh37:
Chr19:42365273
Chr19:42364887
GRCh38:
Chr19:41861204
Chr19:41860817
RPS19, RPS19T55M, V15FDiamond-Blackfan anemia 1Pathogenic
(Jun 15, 2003)
no assertion criteria provided
97.
GRCh37:
Chr19:42365275
GRCh38:
Chr19:41861206
RPS19R56*Congenital hypoplastic anemiaPathogenic
(Apr 23, 2022)
criteria provided, single submitter
98.
GRCh37:
Chr19:42365275
GRCh38:
Chr19:41861206
RPS19R56Gnot providedLikely pathogenic
(May 11, 2021)
criteria provided, single submitter
99.
GRCh37:
Chr19:42365276
GRCh38:
Chr19:41861207
RPS19R56LCongenital hypoplastic anemiaLikely pathogenic
(May 17, 2018)
criteria provided, single submitter
100.
GRCh37:
Chr19:42365276
GRCh38:
Chr19:41861207
RPS19R56QCongenital hypoplastic anemiaLikely pathogenic
(Mar 6, 2018)
criteria provided, single submitter
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