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 411

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:
Chr19:14085489-28330584
GRCh38:
Chr19:13974677-27839676
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, LPAR2, LRRC25, LSM4, MAP1S, MAST3, MAU2, MED26, MEF2B, MIR1199, MIR1270, MIR1470, MIR3188, MIR3189, MIR639, MIR640, MIR6795, MISP3, MPV17L2, MRPL34, MVB12A, MYO9B, NCAN, NDUFA13, NDUFB7, NIBAN3, NOTCH3, NR2C2AP, NR2F6, NWD1, NXNL1, OCEL1, OR10H1, OR10H2, OR10H3, OR10H4, OR10H5, OR1I1, OR7A10, OR7A17, OR7A5, OR7C1, OR7C2, PALM3, PBX4, PDE4C, PGLS, PGLS-DT, PGLYRP2, PGPEP1, PIK3R2, PKN1, PLVAP, PRKACA, PTGER1, RAB3A, RAB8A, RASAL3, REX1BD, RFX1, RFXANK, RLN3, RPL18A, RPSA2, SAMD1, SIN3B, SLC1A6, SLC25A42, SLC27A1, SLC35E1, SLC5A5, SMIM46, SMIM7, SNORA104, SNORA118, SNORA68, SSBP4, SUGP1, SUGP2, SYDE1, TECR, TEKTL1, TM6SF2, TMEM161A, TMEM221, TMEM38A, TMEM59L, TPM4, TSSK6, UBA52, UCA1, UCA1-AS1, UNC13A, UPF1, USE1, USHBP1, WIZ, YJEFN3, ZNF100, ZNF101, ZNF14, ZNF208, ZNF253, ZNF254, ZNF257, ZNF333, ZNF429, ZNF43, ZNF430, ZNF431, ZNF486, ZNF492, ZNF493, ZNF506, ZNF626, ZNF66, ZNF675, ZNF676, ZNF681, ZNF682, ZNF708, ZNF714, ZNF723, ZNF724, ZNF726, ZNF728, ZNF729, ZNF730, ZNF737, ZNF738, ZNF85, ZNF90, ZNF91, ZNF93, ZNF98, ZNF99, ABHD8, ADGRE2, ADGRE3, ADGRE5, ADGRL1, ADGRL1-AS1, AKAP8, AKAP8L, ANKLE1, ANO8, AP1M1, ARMC6, ARRDC2, ASF1B, ATP13A1, B3GNT3, BABAM1, BISPR, BORCS8, BORCS8-MEF2B, BRD4, BST2, C19orf44, C19orf67, CALR3, CASP14, CCDC124, CCDC194, CERS1, CHERP, CIB3, CILP2, CIST1, CLEC17A, COLGALT1, COMP, COPE, CPAMD8, CRLF1, CRTC1, CYP4F11, CYP4F12, CYP4F2, CYP4F22, CYP4F3, CYP4F8, DDA1, DDX39A, DDX49, DNAJB1, ELL, EPHX3, EPS15L1, ERVK-19, ERVS71-1, F2RL3, FAM32A, FCHO1, FKBP8, GATAD2A, GDF1, GDF15, GIPC1, GMIP, GTPBP3, HAPLN4, HAUS8, HOMER3, HOMER3-AS1, HSH2D, IFI30, IL12RB1, IL27RA, ILVBL, ILVBL-AS1, INSL3, IQCN, ISYNA1, JAK3, JUND, KCNN1, KLF2, KLF2-DT, KLHL26, KXD1, LINC00661, LINC00662, LINC00663, LINC00664, LINC00905, LINC01224, LINC01233, LINC01785, LINC01841, LINC01842, LINC01855, LINC01858, LINC01859, LINC02987, LINC03085, LOC100505851, LOC101929124, LOC102725254, LOC105372321, LOC105376917, LOC106783503, LOC112543461, LOC112543462, LOC112543463, LOC112543464, LOC112543465, LOC112543466, LOC112543467, LOC112543468, LOC112543469, LOC112543470, LOC112543471, LOC112543472, LOC112543473, LOC113939968, LOC116276505, LOC116276506, LOC116276507, LOC116276508, LOC116276509, LOC116276510, LOC116276511, LOC116276512, LOC121627856, LOC121627857, LOC121627858, LOC121627859, LOC121627860, LOC121627861, LOC121627862, LOC121627863, LOC121627864, LOC121627865, LOC121627866, LOC121627867, LOC121852982, LOC121852983, LOC121852984, LOC121852985, LOC125371482, LOC125371483, LOC125371484, LOC125371486, LOC125371487, LOC125371488, LOC125371489, LOC125371491, LOC125371492, LOC125371493, LOC125371494, LOC125371495, LOC125371496, LOC125371497, LOC125371498, LOC125371499, LOC125371500, LOC126862867, LOC126862868, LOC126862869, LOC126862870, LOC126862871, LOC126862872, LOC126862873, LOC126862874, LOC126862875, LOC126862876, LOC126862877, LOC126862878, LOC126862879, LOC126862880, LOC126862881, LOC126862882, LOC126862883, LOC126862884, LOC126862885, LOC126862886, LOC128854698, LOC129391071, LOC129391072, LOC129391073, LOC129391074, LOC129391075, LOC129391076, LOC129391077, LOC129391078, LOC129391079, LOC129391080, LOC129391081, LOC129391082, LOC129391083, LOC129391084, LOC129391085, 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, 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
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
3.
GRCh37:
Chr19:15244405-24376393
GRCh38:
Chr19:15133594-24193591
LOC130064107, LOC130064108, LOC130064109, LOC130064110, LOC130064111, LOC130064112, LPAR2, LRRC25, LSM4, MAP1S, MAST3, MAU2, MED26, MEF2B, MIR1270, MIR1470, MIR3188, MIR3189, MIR640, MIR6795, MPV17L2, MRPL34, MVB12A, MYO9B, NCAN, NDUFA13, NIBAN3, NOTCH3, NR2C2AP, NR2F6, NWD1, NXNL1, OCEL1, OR10H1, OR10H2, OR10H3, OR10H4, OR10H5, PBX4, PDE4C, PGLS, PGLS-DT, PGLYRP2, PGPEP1, PIK3R2, PLVAP, RAB3A, RAB8A, RASAL3, REX1BD, RFXANK, RPL18A, RPSA2, SIN3B, SLC25A42, SLC27A1, SLC35E1, SLC5A5, SMIM7, SNORA118, SNORA68, SSBP4, SUGP1, SUGP2, TM6SF2, TMEM161A, TMEM221, TMEM38A, TMEM59L, TPM4, TSSK6, UBA52, UCA1, UCA1-AS1, UNC13A, UPF1, USE1, USHBP1, WIZ, YJEFN3, ZNF100, ZNF101, ZNF14, ZNF208, ZNF253, ZNF254, ZNF257, ZNF429, ZNF43, ZNF430, ZNF431, ZNF486, ZNF492, ZNF493, ZNF506, ZNF626, ZNF66, ZNF675, ZNF676, ZNF681, ZNF682, ZNF708, ZNF714, ZNF723, ZNF724, ZNF726, ZNF728, ZNF729, ZNF730, ZNF737, ZNF738, ZNF85, ZNF90, ZNF91, ZNF93, ZNF98, ZNF99, ABHD8, AKAP8, AKAP8L, ANKLE1, ANO8, AP1M1, ARMC6, ARRDC2, ATP13A1, B3GNT3, BABAM1, BISPR, BORCS8, BORCS8-MEF2B, BRD4, BST2, C19orf44, CALR3, CCDC124, CCDC194, CERS1, CHERP, CIB3, CILP2, CIST1, COLGALT1, COMP, COPE, CPAMD8, CRLF1, CRTC1, CYP4F11, CYP4F12, CYP4F2, CYP4F22, CYP4F3, CYP4F8, DDA1, DDX49, ELL, EPHX3, EPS15L1, ERVS71-1, F2RL3, FAM32A, FCHO1, FKBP8, GATAD2A, GDF1, GDF15, GMIP, GTPBP3, HAPLN4, HAUS8, HOMER3, HOMER3-AS1, HSH2D, IFI30, IL12RB1, INSL3, IQCN, ISYNA1, JAK3, JUND, KCNN1, KLF2, KLF2-DT, KLHL26, KXD1, LINC00661, LINC00663, LINC00664, LINC00905, LINC01224, LINC01233, LINC01785, LINC01855, LINC01858, LINC01859, LINC03085, LOC100505851, LOC101929124, LOC102725254, LOC105372321, LOC105376917, LOC106783503, LOC112543462, LOC112543463, LOC112543464, LOC112543465, LOC112543466, LOC112543467, LOC112543468, LOC112543469, LOC112543470, LOC112543471, LOC112543472, LOC112543473, LOC116276507, LOC116276508, LOC116276509, LOC116276510, LOC116276511, LOC116276512, LOC121627859, LOC121627860, LOC121627861, LOC121627862, LOC121627863, LOC121627864, LOC121627865, LOC121627866, LOC121627867, LOC121852982, LOC121852983, LOC121852984, LOC121852985, LOC125371486, LOC125371487, LOC125371488, LOC125371489, LOC125371491, LOC125371492, LOC125371493, LOC125371494, LOC125371495, LOC125371496, LOC125371497, LOC125371498, LOC125371499, LOC125371500, LOC126862871, LOC126862872, LOC126862873, LOC126862874, LOC126862875, LOC126862876, LOC126862877, LOC126862878, LOC126862879, LOC126862880, LOC126862881, LOC126862882, LOC126862883, LOC126862884, LOC126862885, LOC126862886, LOC128854698, LOC129391075, LOC129391076, LOC129391077, LOC129391078, LOC129391079, LOC129391080, LOC129391081, LOC129391082, LOC129391083, LOC129391084, LOC129391085, 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, 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
See casesPathogenic
(Dec 22, 2010)
no assertion criteria provided
4.
GRCh37:
Chr19:17287576-35415054
GRCh38:
Chr19:17176767-34924150
ABHD8, ANKLE1, ANKRD27, ANO8, ARMC6, ARRDC2, ATP13A1, B3GNT3, BABAM1, BISPR, BORCS8, BORCS8-MEF2B, BST2, C19orf12, CCDC124, CCDC194, CCNE1, CEBPA, CEBPA-DT, CEBPG, CEP89, CERS1, CHST8, CILP2, CIST1, COLGALT1, COMP, COPE, CRLF1, CRTC1, DDA1, DDX49, DPY19L3, DPY19L3-DT, ELL, ERVK-19, ERVS71-1, FAAP24, FCHO1, FKBP8, GARRE1, GATAD2A, GDF1, GDF15, GMIP, GPATCH1, GPI, GTPBP3, HAPLN4, HOMER3, HOMER3-AS1, IFI30, IL12RB1, INSL3, IQCN, ISYNA1, JAK3, JUND, KCNN1, KCTD15, KLHL26, KXD1, LINC00662, LINC00663, LINC00664, LINC00904, LINC00906, LINC01224, LINC01233, LINC01532, LINC01533, LINC01782, LINC01785, LINC01791, LINC01801, LINC01834, LINC01838, LINC01858, LINC01859, LINC02841, LINC02965, LINC02987, LINC03049, LINC03085, LINC03103, LOC100505851, LOC101929124, LOC102724908, LOC102724958, LOC102725254, LOC105372321, LOC105376917, LOC106783503, LOC110120869, LOC110120870, LOC110120871, LOC110120872, LOC110120873, LOC110120875, LOC110120890, LOC110120927, LOC110120942, LOC111365153, LOC111413028, LOC112543463, LOC112543464, LOC112543465, LOC112543466, LOC112543467, LOC112543468, LOC112543469, LOC112543470, LOC112543471, LOC112543472, LOC112543473, LOC112543479, LOC112543483, LOC112543484, LOC113939969, LOC116276507, LOC116276508, LOC116276509, LOC116276510, LOC116276511, LOC116276512, LOC121627862, LOC121627863, LOC121627864, LOC121627865, LOC121627866, LOC121627867, LOC121627868, LOC121627869, LOC121627870, LOC121852983, LOC121852984, LOC121852985, LOC121852986, LOC125371491, LOC125371492, LOC125371493, LOC125371494, LOC125371495, LOC125371496, LOC125371497, LOC125371498, LOC125371499, LOC125371500, LOC125371501, LOC125371502, LOC125371503, LOC125371504, LOC125371505, LOC125371506, LOC125371507, LOC126862875, LOC126862876, LOC126862877, LOC126862878, LOC126862879, LOC126862880, LOC126862881, LOC126862882, LOC126862883, LOC126862884, LOC126862885, LOC126862886, LOC126862887, LOC126862888, LOC126862889, LOC126862890, LOC126862891, LOC126862892, LOC126862893, LOC126862894, LOC126862895, LOC129391077, LOC129391078, LOC129391079, LOC129391080, LOC129391081, LOC129391082, LOC129391083, LOC129391084, LOC129391085, LOC129391086, LOC129391087, LOC129391088, LOC129391089, LOC129391090, LOC129391091, LOC129391092, LOC129391093, LOC129391094, 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, LOC132090533, LOC132090534, LOC132090535, LOC132090536, LOC132090537, LOC132090538, LOC132090539, LOC132090540, LOC132090541, LOC132090542, LOC132090543, LOC132090544, LOC132090545, LOC132090546, LOC132090547, LOC132090548, LOC132090549, LOC132090904, LOC132090905, LOC132090906, LOC132090907, LOC132090908, LOC132090909, LPAR2, LRP3, LRRC25, LSM14A, LSM4, MAP1S, MAST3, MAU2, MEF2B, MIR1270, MIR3188, MIR3189, MIR640, MPV17L2, MRPL34, MVB12A, MYO9B, NCAN, NDUFA13, NIBAN3, NR2C2AP, NR2F6, NUDT19, NUDT19-DT, NXNL1, OCEL1, PBX4, PDCD2L, PDCD5, PDE4C, PEPD, PGLS, PGLS-DT, PGPEP1, PIK3R2, PLEKHF1, PLVAP, POP4, RAB3A, REX1BD, RFXANK, RGS9BP, RHPN2, RPL18A, RPSA2, SCGB2B2, SLC25A42, SLC27A1, SLC5A5, SLC7A10, SLC7A9, SNORA68, SNORA68B, SSBP4, SUGP1, SUGP2, SUNO1, TDRD12, TM6SF2, TMEM161A, TMEM221, TMEM59L, TRT-AGT1-3, TSHZ3, TSSK6, UBA2, UBA52, UNC13A, UPF1, UQCRFS1, UQCRFS1-DT, URI1, USE1, USHBP1, VSTM2B, VSTM2B-DT, WDR88, WTIP, YJEFN3, ZNF100, ZNF101, ZNF14, ZNF181, ZNF208, ZNF253, ZNF254, ZNF257, ZNF30, ZNF30-AS1, ZNF302, ZNF429, ZNF43, ZNF430, ZNF431, ZNF486, ZNF492, ZNF493, ZNF506, ZNF507, ZNF536, ZNF599, ZNF626, ZNF66, ZNF675, ZNF676, ZNF681, ZNF682, ZNF708, ZNF714, ZNF723, ZNF724, ZNF726, ZNF728, ZNF729, ZNF730, ZNF737, ZNF738, ZNF85, ZNF90, ZNF91, ZNF93, ZNF98, ZNF99
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
5.
GRCh37:
Chr19:18979421
GRCh38:
Chr19:18868612
CERS1, GDF1not providedLikely benign
(Sep 6, 2019)
criteria provided, single submitter
6.
GRCh37:
Chr19:18979423
GRCh38:
Chr19:18868614
CERS1, GDF1E368Knot providedUncertain significance
(Aug 31, 2021)
criteria provided, single submitter
7.
GRCh37:
Chr19:18979429
GRCh38:
Chr19:18868620
CERS1, GDF1V366LInborn genetic diseasesUncertain significance
(Dec 8, 2021)
criteria provided, single submitter
8.
GRCh37:
Chr19:18979430
GRCh38:
Chr19:18868621
CERS1, GDF1not providedLikely benign
(Aug 27, 2022)
criteria provided, single submitter
9.
GRCh37:
Chr19:18979433
GRCh38:
Chr19:18868624
CERS1, GDF1M364Inot providedLikely pathogenic
(Aug 24, 2021)
criteria provided, single submitter
10.
GRCh37:
Chr19:18979433-18979435
GRCh38:
Chr19:18868624-18868626
CERS1, GDF1M364delRight atrial isomerismPathogenic
(Apr 18, 2018)
no assertion criteria provided
11.
GRCh37:
Chr19:18979434
GRCh38:
Chr19:18868625
CERS1, GDF1M364TProgressive myoclonic epilepsy type 8, not providedPathogenic/Likely pathogenic
(Jun 14, 2022)
criteria provided, multiple submitters, no conflicts
12.
GRCh37:
Chr19:18979450
GRCh38:
Chr19:18868641
CERS1, GDF1R359Wnot providedUncertain significance
(Oct 13, 2022)
criteria provided, single submitter
13.
GRCh37:
Chr19:18979473-18979474
GRCh38:
Chr19:18868664-18868665
CERS1, GDF1not providedUncertain significance
(Sep 2, 2021)
criteria provided, single submitter
14.
GRCh37:
Chr19:18979475-18979478
GRCh38:
Chr19:18868666-18868669
GDF1, CERS1F349fsnot provided, Congenital heart defects, multiple types, 6Pathogenic/Likely pathogenic
(Jan 25, 2023)
criteria provided, multiple submitters, no conflicts
15.
GRCh37:
Chr19:18979476-18979478
GRCh38:
Chr19:18868667-18868669
CERS1, GDF1F350delVisceral heterotaxy, Progressive myoclonic epilepsy type 8Uncertain significance
(Aug 31, 2021)
criteria provided, single submitter
16.
GRCh37:
Chr19:18979484
GRCh38:
Chr19:18868675
CERS1, GDF1not providedLikely benign
(May 29, 2022)
criteria provided, single submitter
17.
GRCh37:
Chr19:18979487
GRCh38:
Chr19:18868678
CERS1, GDF1not providedLikely benign
(Apr 2, 2018)
criteria provided, single submitter
18.
GRCh37:
Chr19:18979495
GRCh38:
Chr19:18868686
CERS1, GDF1P344Snot providedUncertain significance
(Sep 1, 2021)
criteria provided, single submitter
19.
GRCh37:
Chr19:18979496
GRCh38:
Chr19:18868687
CERS1, GDF1Progressive myoclonic epilepsy type 8Likely benign
(Jul 10, 2018)
criteria provided, single submitter
20.
GRCh37:
Chr19:18979497
GRCh38:
Chr19:18868688
CERS1, GDF1S343Wnot providedUncertain significance
(Aug 31, 2021)
criteria provided, single submitter
21.
GRCh37:
Chr19:18979506
GRCh38:
Chr19:18868697
CERS1, GDF1A340Gnot providedUncertain significance
(Sep 1, 2021)
criteria provided, single submitter
22.
GRCh37:
Chr19:18979509
GRCh38:
Chr19:18868700
CERS1, GDF1P339LInborn genetic diseasesUncertain significance
(Aug 8, 2022)
criteria provided, single submitter
23.
GRCh37:
Chr19:18979509
GRCh38:
Chr19:18868700
CERS1, GDF1P339Hnot providedUncertain significance
(Aug 31, 2021)
criteria provided, single submitter
24.
GRCh37:
Chr19:18979524
GRCh38:
Chr19:18868715
CERS1, GDF1L334RInborn genetic diseasesUncertain significance
(Jan 27, 2022)
criteria provided, single submitter
25.
GRCh37:
Chr19:18979528
GRCh38:
Chr19:18868719
GDF1, CERS1D333NCongenital heart defects, multiple types, 6Uncertain significance
(Sep 10, 2018)
criteria provided, single submitter
26.
GRCh37:
Chr19:18979538
GRCh38:
Chr19:18868729
CERS1, GDF1not providedLikely benign
(Oct 13, 2022)
criteria provided, single submitter
27.
GRCh37:
Chr19:18979540
GRCh38:
Chr19:18868731
GDF1, CERS1P329Snot provided, GDF1-related condition, Inborn genetic diseases
Uncertain significance
(May 24, 2023)
criteria provided, multiple submitters, no conflicts
28.
GRCh37:
Chr19:18979548
GRCh38:
Chr19:18868739
GDF1, CERS1A326GInborn genetic diseasesUncertain significance
(Jan 3, 2022)
criteria provided, single submitter
29.
GRCh37:
Chr19:18979573
GRCh38:
Chr19:18868764
CERS1, GDF1A318Tnot providedLikely pathogenic
(Feb 16, 2017)
criteria provided, single submitter
30.
GRCh37:
Chr19:18979591
GRCh38:
Chr19:18868782
CERS1, GDF1P312AGDF1-related conditionUncertain significance
(Dec 15, 2022)
criteria provided, single submitter
31.
GRCh37:
Chr19:18979600
GRCh38:
Chr19:18868791
CERS1, GDF1S309PProgressive myoclonic epilepsy type 8, not specified, Visceral heterotaxy
Conflicting interpretations of pathogenicity
(Jul 18, 2023)
criteria provided, conflicting interpretations
32.
GRCh37:
Chr19:18979613
GRCh38:
Chr19:18868804
GDF1, CERS1not providedLikely benign
(Jul 6, 2022)
criteria provided, single submitter
33.
GRCh37:
Chr19:18979615-18979616
GRCh38:
Chr19:18868806-18868807
CERS1, GDF1V304fsnot providedLikely pathogenic
(Jun 1, 2022)
criteria provided, single submitter
34.
GRCh37:
Chr19:18979622
GRCh38:
Chr19:18868813
CERS1, GDF1not providedLikely benign
(Aug 10, 2022)
criteria provided, single submitter
35.
GRCh37:
Chr19:18979625
GRCh38:
Chr19:18868816
GDF1, CERS1not providedUncertain significance
(Aug 30, 2021)
criteria provided, single submitter
36.
GRCh37:
Chr19:18979634
GRCh38:
Chr19:18868825
CERS1, GDF1Q297Hnot providedUncertain significanceno assertion criteria provided
37.
GRCh37:
Chr19:18979636
GRCh38:
Chr19:18868827
CERS1, GDF1Q297*not providedPathogenic
(Aug 28, 2021)
criteria provided, single submitter
38.
GRCh37:
Chr19:18979642
GRCh38:
Chr19:18868833
CERS1, GDF1Y295Nnot providedUncertain significance
(Sep 1, 2021)
criteria provided, single submitter
39.
GRCh37:
Chr19:18979647
GRCh38:
Chr19:18868838
CERS1, GDF1A293VGDF1-related condition, Inborn genetic diseasesUncertain significance
(Oct 6, 2022)
criteria provided, multiple submitters, no conflicts
40.
GRCh37:
Chr19:18979674
GRCh38:
Chr19:18868865
CERS1, GDF1W284*Congenital heart defects, multiple types, 6Likely pathogenic
(Apr 6, 2020)
criteria provided, single submitter
41.
GRCh37:
Chr19:18979695
GRCh38:
Chr19:18868886
CERS1, GDF1R277Hnot providedUncertain significance
(Aug 28, 2021)
criteria provided, single submitter
42.
GRCh37:
Chr19:18979711-18979738
GRCh38:
Chr19:18868902-18868929
CERS1, GDF1P263fsInborn genetic diseasesLikely pathogenic
(Dec 19, 2019)
criteria provided, single submitter
43.
GRCh37:
Chr19:18979713
GRCh38:
Chr19:18868904
CERS1, GDF1R271Pnot providedUncertain significance
(Aug 31, 2021)
criteria provided, single submitter
44.
GRCh37:
Chr19:18979724-18979749
GRCh38:
Chr19:18868915-18868940
GDF1, CERS1L259fsRight atrial isomerism, not providedLikely pathogenic
(Oct 6, 2022)
criteria provided, multiple submitters, no conflicts
45.
GRCh37:
Chr19:18979725
GRCh38:
Chr19:18868916
CERS1, GDF1C267YGDF1-related conditionUncertain significance
(Aug 23, 2022)
criteria provided, single submitter
46.
GRCh37:
Chr19:18979729
GRCh38:
Chr19:18868920
CERS1, GDF1A266Tnot specified, not providedUncertain significance
(Aug 19, 2023)
criteria provided, multiple submitters, no conflicts
47.
GRCh37:
Chr19:18979737
GRCh38:
Chr19:18868928
CERS1, GDF1P263Lnot providedUncertain significance
(Aug 30, 2021)
criteria provided, single submitter
48.
GRCh37:
Chr19:18979745
GRCh38:
Chr19:18868936
CERS1, GDF1not providedUncertain significance
(Jul 9, 2015)
criteria provided, single submitter
49.
GRCh37:
Chr19:18979753
GRCh38:
Chr19:18868944
CERS1, GDF1V258MInborn genetic diseasesUncertain significance
(Apr 13, 2023)
criteria provided, single submitter
50.
GRCh37:
Chr19:18979758
GRCh38:
Chr19:18868949
CERS1, GDF1E256Gnot providedUncertain significance
(Sep 27, 2022)
criteria provided, single submitter
51.
GRCh37:
Chr19:18979760
GRCh38:
Chr19:18868951
CERS1, GDF1not providedUncertain significance
(Aug 13, 2021)
criteria provided, single submitter
52.
GRCh37:
Chr19:18979764
GRCh38:
Chr19:18868955
CERS1, GDF1D254AInborn genetic diseasesUncertain significance
(Nov 30, 2021)
criteria provided, single submitter
53.
GRCh37:
Chr19:18979782-18979783
GRCh38:
Chr19:18868973-18868974
CERS1, GDF1L248fsnot providedPathogenic
(Aug 24, 2021)
criteria provided, single submitter
54.
GRCh37:
Chr19:18979784
GRCh38:
Chr19:18868975
GDF1, CERS1not providedLikely benign
(Aug 16, 2022)
criteria provided, single submitter
55.
GRCh37:
Chr19:18979787
GRCh38:
Chr19:18868978
CERS1, GDF1not providedLikely benign
(Oct 17, 2022)
criteria provided, single submitter
56.
GRCh37:
Chr19:18979839
GRCh38:
Chr19:18869030
GDF1, CERS1R229Pnot providedUncertain significance
(Feb 25, 2021)
criteria provided, single submitter
57.
GRCh37:
Chr19:18979844
GRCh38:
Chr19:18869035
CERS1, GDF1C227*GDF1-RELATED DISORDERS, GDF1-related condition, Right atrial isomerism,
not provided, Congenital heart defects, multiple types, 6
Pathogenic/Likely pathogenic
(Sep 27, 2023)
criteria provided, multiple submitters, no conflicts
58.
GRCh37:
Chr19:18979847-18979946
GRCh38:
Chr19:18869038-18869137
CERS1, GDF1V194fsnot providedLikely pathogenic
(Aug 6, 2021)
criteria provided, single submitter
59.
GRCh37:
Chr19:18979857-18979858
GRCh38:
Chr19:18869048-18869049
CERS1, GDF1A223fsnot providedPathogenic
(May 3, 2020)
criteria provided, single submitter
60.
GRCh37:
Chr19:18979864
GRCh38:
Chr19:18869055
GDF1, CERS1P221AInborn genetic diseasesUncertain significance
(Dec 21, 2022)
criteria provided, single submitter
61.
GRCh37:
Chr19:18979867
GRCh38:
Chr19:18869058
GDF1, CERS1R220Snot providedUncertain significance
(Aug 23, 2022)
criteria provided, single submitter
62.
GRCh37:
Chr19:18979869-18979874
GRCh38:
Chr19:18869060-18869065
GDF1, CERS1not providedUncertain significance
(Dec 18, 2020)
criteria provided, single submitter
63.
GRCh37:
Chr19:18979872
GRCh38:
Chr19:18869063
CERS1, GDF1A218Enot providedUncertain significance
(Feb 12, 2022)
criteria provided, single submitter
64.
GRCh37:
Chr19:18979876
GRCh38:
Chr19:18869067
CERS1, GDF1L217Vnot provided, Congenital heart defects, multiple types, 6Uncertain significance
(Aug 30, 2021)
criteria provided, multiple submitters, no conflicts
65.
GRCh37:
Chr19:18979888
GRCh38:
Chr19:18869079
CERS1, GDF1L213Fnot providedUncertain significance
(Jul 19, 2022)
criteria provided, single submitter
66.
GRCh37:
Chr19:18979899
GRCh38:
Chr19:18869090
GDF1, CERS1W209*not providedPathogenic
(Feb 12, 2022)
criteria provided, single submitter
67.
GRCh37:
Chr19:18979904-18979905
GRCh38:
Chr19:18869095-18869096
CERS1, GDF1A207VGDF1-related conditionUncertain significance
(Jan 24, 2023)
criteria provided, single submitter
68.
GRCh37:
Chr19:18979917
GRCh38:
Chr19:18869108
GDF1, CERS1W203*Inborn genetic diseasesLikely pathogenic
(Apr 4, 2018)
criteria provided, single submitter
69.
GRCh37:
Chr19:18979926
GRCh38:
Chr19:18869117
GDF1, CERS1G200Dnot provided, Congenital heart defects, multiple types, 6, Right atrial isomerism
Uncertain significance
(Jul 5, 2022)
criteria provided, multiple submitters, no conflicts
70.
GRCh37:
Chr19:18979929
GRCh38:
Chr19:18869120
CERS1, GDF1L199Pnot provided, Congenital heart defects, multiple types, 6, Right atrial isomerism
Uncertain significance
(Dec 15, 2021)
criteria provided, multiple submitters, no conflicts
71.
GRCh37:
Chr19:18979938
GRCh38:
Chr19:18869129
CERS1, GDF1A196GInborn genetic diseasesUncertain significance
(Aug 2, 2022)
criteria provided, single submitter
72.
GRCh37:
Chr19:18979938-18979939
GRCh38:
Chr19:18869129-18869130
GDF1, CERS1A196fsVisceral heterotaxyPathogenic
(Nov 7, 2018)
criteria provided, single submitter
73.
GRCh37:
Chr19:18979939
GRCh38:
Chr19:18869130
CERS1, GDF1A196Tnot providedUncertain significance
(Nov 30, 2022)
criteria provided, single submitter
74.
GRCh37:
Chr19:18979943
GRCh38:
Chr19:18869134
CERS1, GDF1not providedLikely benign
(May 15, 2018)
criteria provided, single submitter
75.
GRCh37:
Chr19:18979950
GRCh38:
Chr19:18869141
CERS1, GDF1P192LInborn genetic diseasesUncertain significance
(Aug 22, 2023)
criteria provided, single submitter
76.
GRCh37:
Chr19:18979953
GRCh38:
Chr19:18869144
GDF1, CERS1G191Anot providedUncertain significance
(Dec 6, 2020)
criteria provided, single submitter
77.
GRCh37:
Chr19:18979964
GRCh38:
Chr19:18869155
CERS1, GDF1not providedLikely benign
(Aug 7, 2022)
criteria provided, single submitter
78.
GRCh37:
Chr19:18979976
GRCh38:
Chr19:18869167
CERS1, GDF1not providedLikely benign
(Sep 30, 2017)
criteria provided, single submitter
79.
GRCh37:
Chr19:18979988
GRCh38:
Chr19:18869179
CERS1, GDF1P180fsCongenital heart defects, multiple types, 6Uncertain significance
(Jul 17, 2023)
criteria provided, single submitter
80.
GRCh37:
Chr19:18979988
GRCh38:
Chr19:18869179
CERS1, GDF1not providedLikely benign
(Jun 15, 2019)
criteria provided, single submitter
81.
GRCh37:
Chr19:18980008
GRCh38:
Chr19:18869199
CERS1, GDF1G173Snot providedUncertain significance
(Jun 23, 2022)
criteria provided, single submitter
82.
GRCh37:
Chr19:18980021
GRCh38:
Chr19:18869212
CERS1, GDF1Progressive myoclonic epilepsy type 8Likely benign
(Sep 9, 2021)
criteria provided, single submitter
83.
GRCh37:
Chr19:18980040
GRCh38:
Chr19:18869231
CERS1, GDF1G162DProgressive myoclonic epilepsy type 8, not providedConflicting interpretations of pathogenicity
(Jul 17, 2021)
criteria provided, conflicting interpretations
84.
GRCh37:
Chr19:18980049
GRCh38:
Chr19:18869240
CERS1, GDF1P159Lnot providedUncertain significance
(Aug 27, 2021)
criteria provided, single submitter
85.
GRCh37:
Chr19:18980054-18980055
GRCh38:
Chr19:18869245-18869246
CERS1, GDF1not specified, Visceral heterotaxy, Progressive myoclonic epilepsy type 8,
not provided
Benign
(Dec 18, 2021)
criteria provided, multiple submitters, no conflicts
86.
GRCh37:
Chr19:18980055-18980056
GRCh38:
Chr19:18869246-18869247
CERS1, GDF1not providedBenign
(Mar 3, 2015)
criteria provided, single submitter
87.
GRCh37:
Chr19:18980057
GRCh38:
Chr19:18869248
GDF1, CERS1not providedLikely benign
(Jul 5, 2022)
criteria provided, single submitter
88.
GRCh37:
Chr19:18980060
GRCh38:
Chr19:18869251
CERS1, GDF1not providedUncertain significance
(Sep 1, 2021)
criteria provided, single submitter
89.
GRCh37:
Chr19:18980067
GRCh38:
Chr19:18869258
CERS1, GDF1A153Vnot providedUncertain significance
(Aug 31, 2021)
criteria provided, single submitter
90.
GRCh37:
Chr19:18980094
GRCh38:
Chr19:18869285
CERS1, GDF1R144Qnot providedUncertain significance
(Feb 23, 2023)
criteria provided, single submitter
91.
GRCh37:
Chr19:18980094
GRCh38:
Chr19:18869285
GDF1, CERS1R144Pnot providedUncertain significance
(Jun 29, 2022)
criteria provided, single submitter
92.
GRCh37:
Chr19:18980107
GRCh38:
Chr19:18869298
CERS1, GDF1E140Qnot providedUncertain significance
(Sep 19, 2022)
criteria provided, single submitter
93.
GRCh37:
Chr19:18980113
GRCh38:
Chr19:18869304
CERS1, GDF1P138Tnot provided, Inborn genetic diseasesConflicting interpretations of pathogenicity
(Mar 31, 2023)
criteria provided, conflicting interpretations
94.
GRCh37:
Chr19:18980121
GRCh38:
Chr19:18869312
CERS1, GDF1A135VInborn genetic diseases, Progressive myoclonic epilepsy type 8Uncertain significance
(Dec 20, 2021)
criteria provided, multiple submitters, no conflicts
95.
GRCh37:
Chr19:18980124
GRCh38:
Chr19:18869315
CERS1, GDF1S134Wnot providedLikely pathogenic
(Mar 8, 2013)
criteria provided, single submitter
96.
GRCh37:
Chr19:18980137
GRCh38:
Chr19:18869328
CERS1, GDF1V130Inot specified, not providedBenign
(Oct 4, 2022)
criteria provided, multiple submitters, no conflicts
97.
GRCh37:
Chr19:18980145
GRCh38:
Chr19:18869336
CERS1, GDF1W127*Congenital heart defects, multiple types, 6Likely pathogenic
(Jun 12, 2020)
criteria provided, single submitter
98.
GRCh37:
Chr19:18980154
GRCh38:
Chr19:18869345
CERS1, GDF1C124Fnot providedLikely pathogenic
(Feb 7, 2017)
criteria provided, single submitter
99.
GRCh37:
Chr19:18980158
GRCh38:
Chr19:18869349
CERS1, GDF1H123Ynot providedUncertain significance
(Oct 1, 2019)
criteria provided, single submitter
100.
GRCh37:
Chr19:18980159
GRCh38:
Chr19:18869350
CERS1, GDF1not providedLikely benign
(Mar 24, 2021)
criteria provided, single submitter
Format
Items per page
Sort by
Choose Destination