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 596

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr19:11338618-45129651
GRCh38:
Chr19:11227942-44626354
LOC130064390, LOC130064391, LOC130064392, LOC130064393, LOC130064394, LOC130064395, LOC130064396, LOC130064397, LOC130064398, LOC130064399, LOC130064400, LOC130064401, LOC130064402, LOC130064403, LOC130064404, LOC130064405, LOC130064406, LOC130064407, LOC130064408, LOC130064409, LOC130064410, LOC130064411, LOC130064412, LOC130064413, LOC130064414, LOC130064415, LOC130064416, LOC130064417, LOC130064418, LOC130064419, LOC130064420, LOC130064421, LOC130064422, LOC130064423, LOC130064424, LOC130064425, LOC130064426, LOC130064427, LOC130064428, LOC130064429, LOC130064430, LOC130064431, LOC130064432, LOC130064433, LOC130064434, LOC130064435, LOC130064436, LOC130064437, LOC130064438, LOC130064439, LOC130064440, LOC130064441, LOC130064442, LOC130064443, LOC130064444, LOC130064445, LOC130064446, LOC130064447, LOC130064448, LOC130064449, LOC130064450, LOC130064451, LOC130064452, LOC130064453, LOC130064454, LOC130064455, LOC130064456, LOC130064457, LOC130064458, LOC130064459, LOC130064460, LOC130064461, LOC130064462, LOC130064463, LOC130064464, LOC130064465, LOC130064466, LOC130064467, LOC130064468, LOC130064469, LOC130064470, LOC130064471, LOC130064472, LOC130064473, LOC130064474, LOC130064475, LOC130064476, LOC130064477, LOC130064478, LOC130064479, LOC130064480, LOC130064481, LOC130064482, LOC130064483, LOC130064484, LOC130064485, LOC130064486, LOC130064487, LOC130064488, LOC130064489, LOC130064490, LOC130064491, LOC130064492, LOC130064493, LOC130064494, LOC130064495, LOC130064496, LOC130064497, LOC130064498, LOC130064499, LOC130064500, LOC130064501, LOC130064502, LOC130064503, LOC130064504, LOC130064505, LOC130064506, LOC130064507, LOC130064508, LOC130064509, LOC130064510, LOC130064511, LOC130064512, LOC130064513, LOC130064514, LOC130064515, LOC130064516, LOC130064517, LOC130064518, LOC130064519, LOC130064520, LOC130064521, LOC130064522, LOC130064523, LOC130064524, LOC130064525, LOC130064526, LOC130064527, LOC130064528, LOC130064529, LOC130064530, LOC130064531, LOC130064532, LOC130064533, LOC130064534, LOC130064535, LOC130064536, LOC130064537, LOC130064538, LOC130064539, LOC130064540, LOC130064541, LOC130064542, LOC130064543, LOC130064544, LOC130064545, LOC130064546, LOC130064547, LOC130064548, LOC130064549, LOC130064550, LOC130064551, LOC130064552, LOC130064553, LOC130064554, LOC130064555, LOC130064556, LOC130064557, LOC130064558, LOC130064559, LOC130064560, LOC130064561, LOC130064562, LOC130064563, LOC130064564, LOC130064565, LOC130064566, LOC130064567, LOC130064568, LOC130064569, LOC130064570, LOC130064571, LOC130064572, LOC130064573, LOC130064574, LOC130064575, LOC130064576, LOC130064577, LOC130064578, LOC130064579, LOC130064580, LOC130064581, LOC130064582, LOC130064583, LOC130064584, LOC130064585, LOC130064586, LOC130064587, LOC130064588, LOC130064589, LOC130064590, LOC130064591, LOC130064592, LOC130064593, LOC130064594, LOC130064595, LOC130064596, LOC130064597, LOC130064598, LOC130064599, LOC130064600, LOC130064601, LOC130064602, LOC130064603, LOC130064604, LOC130064605, LOC130064606, LOC130064607, LOC130064608, LOC130064609, LOC130064610, LOC130064611, LOC130064612, LOC130064613, LOC130064614, LOC130064615, LOC130064616, LOC130064617, LOC130064618, LOC130064619, LOC130064620, LOC130064621, LOC130064622, LOC130064623, LOC130064624, LOC130064625, LOC130064626, LOC130064627, LOC130064628, LOC130064629, LOC130064630, LOC130064631, LOC130064632, LOC130064633, LOC130064634, LOC132090533, LOC132090534, LOC132090535, LOC132090536, LOC132090537, LOC132090538, LOC132090539, LOC132090540, LOC132090541, LOC132090542, LOC132090543, LOC132090544, LOC132090545, LOC132090546, LOC132090547, LOC132090548, LOC132090549, LOC132090550, LOC132090904, LOC132090905, LOC132090906, LOC132090907, LOC132090908, LOC132090909, LOC284344, LOC284412, LOC644554, LOC728485, LPAR2, LRFN1, LRFN3, LRP3, LRRC25, LSM14A, LSM4, LSR, LTBP4, LYL1, LYPD3, LYPD4, LYPD5, MAG, MAN2B1, MAP1S, MAP3K10, MAP4K1, MAP4K1-AS1, MAST1, MAST3, MAU2, MED26, MED29, MEF2B, MEGF8, MIA, MIA-RAB4B, MIR1199, MIR1270, MIR1470, MIR181C, MIR181D, MIR23A, MIR23AHG, MIR24-2, MIR27A, MIR3188, MIR3189, MIR4323, MIR4530, MIR5196, MIR5684, MIR5695, MIR639, MIR640, MIR641, MIR6515, MIR6719, MIR6794, MIR6795, MIR6796, MIR6797, MIR6887, MIR7974, MIR8077, MISP3, MPV17L2, MRI1, MRPL34, MRPS12, MVB12A, MYO9B, NACC1, NANOS3, NCAN, NCCRP1, NDUFA13, NDUFB7, NFIX, NFKBIB, NFKBID, NIBAN3, NOTCH3, NPHS1, NR2C2AP, NR2F6, NUDT19, NUDT19-DT, NUMBL, NWD1, NXNL1, OCEL1, ODAD3, OR10H1, OR10H2, OR10H3, OR10H4, OR10H5, OR1I1, OR7A10, OR7A17, OR7A5, OR7C1, OR7C2, OVOL3, PAF1, PAFAH1B3, PAK4, PALM3, PBX4, PCAT19, PDCD2L, PDCD5, PDE4C, PEPD, PGLS, PGLS-DT, PGLYRP2, PGPEP1, PHLDB3, PIK3R2, PINLYP, PKN1, PLAUR, PLD3, PLEKHF1, PLEKHG2, PLPPR2, PLVAP, PMIS2, PODNL1, POLR2I, POP4, POU2F2, POU2F2-AS2, PPP1R14A, PRDX2, PRG1, PRKACA, PRKCSH, PRODH2, PROSER3, PRR19, PRX, PSENEN, PSG1, PSG11, PSG11-AS1, PSG2, PSG3, PSG4, PSG5, PSG6, PSG7, PSG8, PSG8-AS1, PSG9, PSMC4, PSMD8, PTGER1, RAB3A, RAB3D, RAB4B, RAB4B-EGLN2, RAB8A, RABAC1, RAD23A, RASAL3, RASGRP4, RBM42, REX1BD, RFX1, RFXANK, RGL3, RGS9BP, RHPN2, RINL, RLN3, RNASEH2A, RPL18A, RPS16, RPS19, RPSA2, RTBDN, SCGB2B2, RYR1, SAMD1, SAMD4B, SARS2, SBSN, SCN1B, SDHAF1, SELENOV, SERTAD1, SERTAD3, SERTAD3-AS1, SHKBP1, SIN3B, SIPA1L3, SIRT2, SLC1A6, SLC25A42, SLC27A1, SLC35E1, SLC5A5, SLC7A10, SLC7A9, SMG9, SMIM46, SMIM7, SNORA104, SNORA118, SNORA68, SNORA68B, SNORD135, SNORD152, SNORD175, SNORD41, SNRPA, SPINT2, SPRED3, SPTBN4, SRRM5, SSBP4, STX10, SUGP1, SUGP2, SUNO1, SUPT5H, SWSAP1, SYCE2, SYCN, SYDE1, SYNE4, TBCB, TDRD12, TECR, TEKTL1, TEX101, TGFB1, THAP8, THSD8, TIMM50, TM6SF2, TMEM145, TMEM147, TMEM147-AS1, TMEM161A, TMEM205, TMEM221, TMEM38A, TMEM59L, TMEM91, TNPO2, TPM4, TRI-TAT1-1, LOC130063878, LOC130063879, LOC130063880, LOC130063881, LOC130063882, LOC130063883, LOC130063884, LOC130063885, LOC130063886, LOC130063887, LOC130063888, LOC130063889, LOC130063890, LOC130063891, LOC130063892, LOC130063893, LOC130063894, LOC130063895, LOC130063896, LOC130063897, LOC130063898, LOC130063899, LOC130063900, LOC130063901, LOC130063902, LOC130063903, LOC130063904, LOC130063905, LOC130063906, LOC130063907, LOC130063908, LOC130063909, LOC130063910, LOC130063911, LOC130063912, LOC130063913, LOC130063914, LOC130063915, LOC130063916, LOC130063917, LOC130063918, LOC130063919, LOC130063920, LOC130063921, LOC130063922, LOC130063923, LOC130063924, LOC130063925, LOC130063926, LOC130063927, LOC130063928, LOC130063929, LOC130063930, LOC130063931, LOC130063932, LOC130063933, LOC130063934, LOC130063935, LOC130063936, LOC130063937, LOC130063938, LOC130063939, LOC130063940, LOC130063941, LOC130063942, LOC130063943, LOC130063944, LOC130063945, LOC130063946, LOC130063947, LOC130063948, LOC130063949, LOC130063950, LOC130063951, LOC130063952, LOC130063953, LOC130063954, LOC130063955, LOC130063956, LOC130063957, LOC130063958, LOC130063959, LOC130063960, LOC130063961, LOC130063962, LOC130063963, LOC130063964, LOC130063965, LOC130063966, LOC130063967, LOC130063968, LOC130063969, LOC130063970, LOC130063971, LOC130063972, LOC130063973, LOC130063974, LOC130063975, LOC130063976, LOC130063977, LOC130063978, LOC130063979, LOC130063980, LOC130063981, LOC130063982, LOC130063983, LOC130063984, LOC130063985, LOC130063986, LOC130063987, LOC130063988, LOC130063989, LOC130063990, LOC130063991, LOC130063992, LOC130063993, LOC130063994, LOC130063995, LOC130063996, LOC130063997, LOC130063998, LOC130063999, LOC130064000, LOC130064001, LOC130064002, LOC130064003, LOC130064004, LOC130064005, LOC130064006, LOC130064007, LOC130064008, LOC130064009, LOC130064010, LOC130064011, LOC130064012, LOC130064013, LOC130064014, LOC130064015, LOC130064016, LOC130064017, LOC130064018, LOC130064019, LOC130064020, LOC130064021, LOC130064022, LOC130064023, LOC130064024, LOC130064025, LOC130064026, LOC130064027, LOC130064028, LOC130064029, LOC130064030, LOC130064031, LOC130064032, LOC130064033, LOC130064034, LOC130064035, LOC130064036, LOC130064037, LOC130064038, LOC130064039, LOC130064040, LOC130064041, LOC130064042, LOC130064043, LOC130064044, LOC130064045, LOC130064046, LOC130064047, LOC130064048, LOC130064049, LOC130064050, LOC130064051, LOC130064052, LOC130064053, LOC130064054, LOC130064055, LOC130064056, LOC130064057, LOC130064058, LOC130064059, LOC130064060, LOC130064061, LOC130064062, LOC130064063, LOC130064064, LOC130064065, LOC130064066, LOC130064067, LOC130064068, LOC130064069, LOC130064070, LOC130064071, LOC130064072, LOC130064073, LOC130064074, LOC130064075, LOC130064076, LOC130064077, LOC130064078, LOC130064079, LOC130064080, LOC130064081, LOC130064082, LOC130064083, LOC130064084, LOC130064085, LOC130064086, LOC130064087, LOC130064088, LOC130064089, LOC130064090, LOC130064091, LOC130064092, LOC130064093, LOC130064094, LOC130064095, LOC130064096, LOC130064097, LOC130064098, LOC130064099, LOC130064100, LOC130064101, LOC130064102, LOC130064103, LOC130064104, LOC130064105, LOC130064106, LOC130064107, LOC130064108, LOC130064109, LOC130064110, LOC130064111, LOC130064112, LOC130064113, LOC130064114, LOC130064115, LOC130064116, LOC130064117, LOC130064118, LOC130064119, LOC130064120, LOC130064121, LOC130064122, LOC130064123, LOC130064124, LOC130064125, LOC130064126, LOC130064127, LOC130064128, LOC130064129, LOC130064130, LOC130064131, LOC130064132, LOC130064133, LOC130064134, LOC130064135, LOC130064136, LOC130064137, LOC130064138, LOC130064139, LOC130064140, LOC130064141, LOC130064142, LOC130064143, LOC130064144, LOC130064145, LOC130064146, LOC130064147, LOC130064148, LOC130064149, LOC130064150, LOC130064151, LOC130064152, LOC130064153, LOC130064154, LOC130064155, LOC130064156, LOC130064157, LOC130064158, LOC130064159, LOC130064160, LOC130064161, LOC130064162, LOC130064163, LOC130064164, LOC130064165, LOC130064166, LOC130064167, LOC130064168, LOC130064169, LOC130064170, LOC130064171, LOC130064172, LOC130064173, LOC130064174, LOC130064175, LOC130064176, LOC130064177, LOC130064178, LOC130064179, LOC130064180, LOC130064181, LOC130064182, LOC130064183, LOC130064184, LOC130064185, LOC130064186, LOC130064187, LOC130064188, LOC130064189, LOC130064190, LOC130064191, LOC130064192, LOC130064193, LOC130064194, LOC130064195, LOC130064196, LOC130064197, LOC130064198, LOC130064199, LOC130064200, LOC130064201, LOC130064202, LOC130064203, LOC130064204, LOC130064205, LOC130064206, LOC130064207, LOC130064208, LOC130064209, LOC130064210, LOC130064211, LOC130064212, LOC130064213, LOC130064214, LOC130064215, LOC130064216, LOC130064217, LOC130064218, LOC130064219, LOC130064220, LOC130064221, LOC130064222, LOC130064223, LOC130064224, LOC130064225, LOC130064226, LOC130064227, LOC130064228, LOC130064229, LOC130064230, LOC130064231, LOC130064232, LOC130064233, LOC130064234, LOC130064235, LOC130064236, LOC130064237, LOC130064238, LOC130064239, LOC130064240, LOC130064241, LOC130064242, LOC130064243, LOC130064244, LOC130064245, LOC130064246, LOC130064247, LOC130064248, LOC130064249, LOC130064250, LOC130064251, LOC130064252, LOC130064253, LOC130064254, LOC130064255, LOC130064256, LOC130064257, LOC130064258, LOC130064259, LOC130064260, LOC130064261, LOC130064262, LOC130064263, LOC130064264, LOC130064265, LOC130064266, LOC130064267, LOC130064268, LOC130064269, LOC130064270, LOC130064271, LOC130064272, LOC130064273, LOC130064274, LOC130064275, LOC130064276, LOC130064277, LOC130064278, LOC130064279, LOC130064280, LOC130064281, LOC130064282, LOC130064283, LOC130064284, LOC130064285, LOC130064286, LOC130064287, LOC130064288, LOC130064289, LOC130064290, LOC130064291, LOC130064292, LOC130064293, LOC130064294, LOC130064295, LOC130064296, LOC130064297, LOC130064298, LOC130064299, LOC130064300, LOC130064301, LOC130064302, LOC130064303, LOC130064304, LOC130064305, LOC130064306, LOC130064307, LOC130064308, LOC130064309, LOC130064310, LOC130064311, LOC130064312, LOC130064313, LOC130064314, LOC130064315, LOC130064316, LOC130064317, LOC130064318, LOC130064319, LOC130064320, LOC130064321, LOC130064322, LOC130064323, LOC130064324, LOC130064325, LOC130064326, LOC130064327, LOC130064328, LOC130064329, LOC130064330, LOC130064331, LOC130064332, LOC130064333, LOC130064334, LOC130064335, LOC130064336, LOC130064337, LOC130064338, LOC130064339, LOC130064340, LOC130064341, LOC130064342, LOC130064343, LOC130064344, LOC130064345, LOC130064346, LOC130064347, LOC130064348, LOC130064349, LOC130064350, LOC130064351, LOC130064352, LOC130064353, LOC130064354, LOC130064355, LOC130064356, LOC130064357, LOC130064358, LOC130064359, LOC130064360, LOC130064361, LOC130064362, LOC130064363, LOC130064364, LOC130064365, LOC130064366, LOC130064367, LOC130064368, LOC130064369, LOC130064370, LOC130064371, LOC130064372, LOC130064373, LOC130064374, LOC130064375, LOC130064376, LOC130064377, LOC130064378, LOC130064379, LOC130064380, LOC130064381, LOC130064382, LOC130064383, LOC130064384, LOC130064385, LOC130064386, LOC130064387, LOC130064388, LOC130064389, LOC117125592, LOC117125593, LOC117125594, LOC117125595, LOC117125596, LOC117125597, LOC117125598, LOC121627856, LOC121627857, LOC121627858, LOC121627859, LOC121627860, LOC121627861, LOC121627862, LOC121627863, LOC121627864, LOC121627865, LOC121627866, LOC121627867, LOC121627868, LOC121627869, LOC121627870, LOC121627871, LOC121627872, LOC121627873, LOC121627874, LOC121627875, LOC121627876, LOC121627877, LOC121852977, LOC121852978, LOC121852979, LOC121852980, LOC121852981, LOC121852982, LOC121852983, LOC121852984, LOC121852985, LOC121852986, LOC121852987, LOC121852988, LOC125371478, LOC125371479, LOC125371480, LOC125371481, LOC125371482, LOC125371483, LOC125371484, LOC125371486, LOC125371487, LOC125371488, LOC125371489, LOC125371491, LOC125371492, LOC125371493, LOC125371494, LOC125371495, LOC125371496, LOC125371497, LOC125371498, LOC125371499, LOC125371500, LOC125371501, LOC125371502, LOC125371503, LOC125371504, LOC125371505, LOC125371506, LOC125371507, LOC125371509, LOC125371510, LOC125371511, LOC125371513, LOC125371514, LOC125371515, LOC125371516, LOC125371517, LOC125371518, LOC125371519, LOC125371520, LOC125371521, LOC125371522, LOC125371523, LOC125371524, LOC125371525, LOC126862857, LOC126862858, LOC126862859, LOC126862860, LOC126862861, LOC126862862, LOC126862863, LOC126862864, LOC126862865, LOC126862866, LOC126862867, LOC126862868, LOC126862869, LOC126862870, LOC126862871, LOC126862872, LOC126862873, LOC126862874, LOC126862875, LOC126862876, LOC126862877, LOC126862878, LOC126862879, LOC126862880, LOC126862881, LOC126862882, LOC126862883, LOC126862884, LOC126862885, LOC126862886, LOC126862887, LOC126862888, LOC126862889, LOC126862890, LOC126862891, LOC126862892, LOC126862893, LOC126862894, LOC126862895, LOC126862896, LOC126862897, LOC126862898, LOC126862899, LOC126862900, LOC126862901, LOC126862902, LOC126862903, LOC126862904, LOC126862905, LOC126862906, LOC126862907, LOC126862908, LOC126862909, LOC126862910, LOC126862911, LOC126862912, LOC128598884, LOC128854698, LOC129391061, LOC129391062, LOC129391063, LOC129391064, LOC129391065, LOC129391066, LOC129391067, LOC129391068, LOC129391069, LOC129391070, LOC129391071, LOC129391072, LOC129391073, LOC129391074, LOC129391075, LOC129391076, LOC129391077, LOC129391078, LOC129391079, LOC129391080, LOC129391081, LOC129391082, LOC129391083, LOC129391084, LOC129391085, LOC129391086, LOC129391087, LOC129391088, LOC129391089, LOC129391090, LOC129391091, LOC129391092, LOC129391093, LOC129391094, LOC129391095, LOC129391096, LOC129391097, LOC129391098, LOC129391099, LOC129391100, LOC129391101, LOC129391102, LOC129391103, LOC129391104, LOC129391105, LOC129391106, LOC129391107, LOC129391108, LOC129391109, LOC129391110, LOC129391111, LOC129391112, LOC129391113, LOC129391114, LOC129391115, LOC129391116, LOC129391117, LOC129391118, LOC129391119, LOC129391120, LOC130063559, LOC130063560, LOC130063561, LOC130063562, LOC130063563, LOC130063564, LOC130063565, LOC130063566, LOC130063567, LOC130063568, LOC130063569, LOC130063570, LOC130063571, LOC130063572, LOC130063573, LOC130063574, LOC130063575, LOC130063576, LOC130063577, LOC130063578, LOC130063579, LOC130063580, LOC130063581, LOC130063582, LOC130063583, LOC130063584, LOC130063585, LOC130063586, LOC130063587, LOC130063588, LOC130063589, LOC130063590, LOC130063591, LOC130063592, LOC130063593, LOC130063594, LOC130063595, LOC130063596, LOC130063597, LOC130063598, LOC130063599, LOC130063600, LOC130063601, LOC130063602, LOC130063603, LOC130063604, LOC130063605, LOC130063606, LOC130063607, LOC130063608, LOC130063609, LOC130063610, LOC130063611, LOC130063612, LOC130063613, LOC130063614, LOC130063615, LOC130063616, LOC130063617, LOC130063618, LOC130063619, LOC130063620, LOC130063621, LOC130063622, LOC130063623, LOC130063624, LOC130063625, LOC130063626, LOC130063627, LOC130063628, LOC130063629, LOC130063630, LOC130063631, LOC130063632, LOC130063633, LOC130063634, LOC130063635, LOC130063636, LOC130063637, LOC130063638, LOC130063639, LOC130063640, LOC130063641, LOC130063642, LOC130063643, LOC130063644, LOC130063645, LOC130063646, LOC130063647, LOC130063648, LOC130063649, LOC130063650, LOC130063651, LOC130063652, LOC130063653, LOC130063654, LOC130063655, LOC130063656, LOC130063657, LOC130063658, LOC130063659, LOC130063660, LOC130063661, LOC130063662, LOC130063663, LOC130063664, LOC130063665, LOC130063666, LOC130063667, LOC130063668, LOC130063669, LOC130063670, LOC130063671, LOC130063672, LOC130063673, LOC130063674, LOC130063675, LOC130063676, LOC130063677, LOC130063678, LOC130063679, LOC130063680, LOC130063681, LOC130063682, LOC130063683, LOC130063684, LOC130063685, LOC130063686, LOC130063687, LOC130063688, LOC130063689, LOC130063690, LOC130063691, LOC130063692, LOC130063693, LOC130063694, LOC130063695, LOC130063696, LOC130063697, LOC130063698, LOC130063699, LOC130063700, LOC130063701, LOC130063702, LOC130063703, LOC130063704, LOC130063705, LOC130063706, LOC130063707, LOC130063708, LOC130063709, LOC130063710, LOC130063711, LOC130063712, LOC130063713, LOC130063714, LOC130063715, LOC130063716, LOC130063717, LOC130063718, LOC130063719, LOC130063720, LOC130063721, LOC130063722, LOC130063723, LOC130063724, LOC130063725, LOC130063726, LOC130063727, LOC130063728, LOC130063729, LOC130063730, LOC130063731, LOC130063732, LOC130063733, LOC130063734, LOC130063735, LOC130063736, LOC130063737, LOC130063738, LOC130063739, LOC130063740, LOC130063741, LOC130063742, LOC130063743, LOC130063744, LOC130063745, LOC130063746, LOC130063747, LOC130063748, LOC130063749, LOC130063750, LOC130063751, LOC130063752, LOC130063753, LOC130063754, LOC130063755, LOC130063756, LOC130063757, LOC130063758, LOC130063759, LOC130063760, LOC130063761, LOC130063762, LOC130063763, LOC130063764, LOC130063765, LOC130063766, LOC130063767, LOC130063768, LOC130063769, LOC130063770, LOC130063771, LOC130063772, LOC130063773, LOC130063774, LOC130063775, LOC130063776, LOC130063777, LOC130063778, LOC130063779, LOC130063780, LOC130063781, LOC130063782, LOC130063783, LOC130063784, LOC130063785, LOC130063786, LOC130063787, LOC130063788, LOC130063789, LOC130063790, LOC130063791, LOC130063792, LOC130063793, LOC130063794, LOC130063795, LOC130063796, LOC130063797, LOC130063798, LOC130063799, LOC130063800, LOC130063801, LOC130063802, LOC130063803, LOC130063804, LOC130063805, LOC130063806, LOC130063807, LOC130063808, LOC130063809, LOC130063810, LOC130063811, LOC130063812, LOC130063813, LOC130063814, LOC130063815, LOC130063816, LOC130063817, LOC130063818, LOC130063819, LOC130063820, LOC130063821, LOC130063822, LOC130063823, LOC130063824, LOC130063825, LOC130063826, LOC130063827, LOC130063828, LOC130063829, LOC130063830, LOC130063831, LOC130063832, LOC130063833, LOC130063834, LOC130063835, LOC130063836, LOC130063837, LOC130063838, LOC130063839, LOC130063840, LOC130063841, LOC130063842, LOC130063843, LOC130063844, LOC130063845, LOC130063846, LOC130063847, LOC130063848, LOC130063849, LOC130063850, LOC130063851, LOC130063852, LOC130063853, LOC130063854, LOC130063855, LOC130063856, LOC130063857, LOC130063858, LOC130063859, LOC130063860, LOC130063861, LOC130063862, LOC130063863, LOC130063864, LOC130063865, LOC130063866, LOC130063867, LOC130063868, LOC130063869, LOC130063870, LOC130063871, LOC130063872, LOC130063873, LOC130063874, LOC130063875, LOC130063876, LOC130063877, ABHD8, ACP5, ACP7, ACTMAP, ACTN4, ADGRE2, ADGRE3, ADGRE5, ADGRL1, ADGRL1-AS1, AKAP8, AKAP8L, AKT2, ALKBH6, ANGPTL8, ANKLE1, ANKRD27, ANO8, AP1M1, APLP1, ARHGAP33, ARHGEF1, ARMC6, ARRDC2, ASF1B, ATP13A1, ATP1A3, ATP4A, AXL, B3GNT3, B3GNT8, B9D2, BABAM1, BCKDHA, BEST2, BISPR, BLVRB, BORCS8, BORCS8-MEF2B, BRD4, BRME1, BST2, C19orf12, C19orf33, C19orf44, C19orf47, C19orf53, C19orf67, CACNA1A, CADM4, CALR, CALR3, CAPN12, CAPNS1, CASP14, CATSPERG, CC2D1A, CCDC124, CCDC159, CCDC194, CCDC97, CCER2, CCNE1, CCNP, CD177, CD22, CD79A, CEACAM1, CEACAM20, CEACAM21, CEACAM3, CEACAM4, CEACAM5, CEACAM6, CEACAM7, CEACAM8, CEBPA, CEBPA-DT, CEBPG, CEP89, CERS1, CHERP, CHST8, CIB3, CIC, CILP2, CIST1, CLC, CLEC17A, CLIP3, CNFN, CNN1, COLGALT1, COMP, COPE, COQ8B, COX6B1, COX7A1, CPAMD8, CRLF1, CRTC1, CXCL17, CYP2A13, CYP2A6, CYP2A7, CYP2B6, CYP2F1, CYP2S1, CYP4F11, CYP4F12, CYP4F2, CYP4F22, CYP4F3, CYP4F8, DAND5, DCAF15, DDA1, DDX39A, DDX49, DEDD2, DHPS, DLL3, DMAC2, DMKN, DMRTC2, DNAJB1, DNASE2, DOCK6, DPF1, DPY19L3, DPY19L3-DT, DYRK1B, ECH1, ECSIT, EGLN2, EID2, EID2B, EIF3K, ELAVL3, ELL, ELOF1, EPHX3, EPOR, EPS15L1, ERF, ERFL, ERICH4, ERVK-19, ERVS71-1, ETHE1, ETV2, EXOSC5, F2RL3, FAAP24, FAM187B, FAM32A, FAM98C, FARSA, FARSA-AS1, FBL, FBXO17, FBXO27, FBXW9, FCGBP, FCHO1, FFAR1, FFAR2, FFAR3, FKBP8, FXYD1, FXYD3, FXYD5, FXYD7, GADD45GIP1, GAPDHS, GARRE1, GATAD2A, GCDH, GDF1, GDF15, GET3, GGN, GIPC1, GMFG, GMIP, GNG14, GPATCH1, GPI, GPR42, GRAMD1A, GRIK5, GSK3A, GTPBP3, HAMP, HAPLN4, HAUS5, HAUS5-DT, HAUS8, HCST, HIPK4, HNRNPL, HNRNPUL1, HOMER3, HOMER3-AS1, HOOK2, HPN, HPN-AS1, HSH2D, HSPB6, HSPC102, IER2, IFI30, IFNL1, IFNL2, IFNL3, IFNL4, IGFLR1, IGSF23, IL12RB1, IL27RA, ILVBL, ILVBL-AS1, INSL3, IQCN, IRGC, IRGQ, ISYNA1, ITPKC, JAK3, JUNB, JUND, KCNK6, KCNN1, KCNN4, KCTD15, KIRREL2, KLF1, KLF2, KLF2-DT, KLHL26, KMT2B, KRTDAP, KXD1, LEUTX, LGALS13, LGALS14, LGALS16, LGALS4, LGALS7, LGALS7B, LGI4, LIN37, LINC00661, LINC00662, LINC00663, LINC00664, LINC00665, LINC00904, LINC00905, LINC00906, LINC01224, LINC01233, LINC01480, LINC01529, LINC01531, LINC01532, LINC01533, LINC01535, LINC01766, LINC01782, LINC01785, LINC01791, LINC01801, LINC01834, LINC01838, LINC01841, LINC01842, LINC01855, LINC01858, LINC01859, LINC02841, LINC02926, LINC02965, LINC02987, LINC03049, LINC03078, LINC03085, LINC03103, LIPE, LIPE-AS1, LNROP, LOC100134317, LOC100505715, LOC100505851, LOC101927522, LOC101927572, LOC101929124, LOC101930071, LOC102724908, LOC102724958, LOC102725254, LOC105372281, LOC105372321, LOC105372383, LOC105372394, LOC105376917, LOC106783503, LOC108663985, LOC110120869, LOC110120870, LOC110120871, LOC110120872, LOC110120873, LOC110120875, LOC110120890, LOC110120927, LOC110120942, LOC110121458, LOC110121465, LOC110599575, LOC110599577, LOC110673974, LOC111365151, LOC111365153, LOC111365163, LOC111413028, LOC111501767, LOC111811970, LOC112543445, LOC112543446, LOC112543448, LOC112543452, LOC112543454, LOC112543455, LOC112543458, LOC112543459, LOC112543461, LOC112543462, LOC112543463, LOC112543464, LOC112543465, LOC112543466, LOC112543467, LOC112543468, LOC112543469, LOC112543470, LOC112543471, LOC112543472, LOC112543473, LOC112543479, LOC112543483, LOC112543484, LOC112543485, LOC112543486, LOC112543487, LOC112543488, LOC112543489, LOC112552149, LOC112552150, LOC112552151, LOC112552152, LOC112552153, LOC112552154, LOC112552155, LOC112552156, LOC113939968, LOC113939969, LOC113939973, LOC116276503, LOC116276504, LOC116276505, LOC116276506, LOC116276507, LOC116276508, LOC116276509, LOC116276510, LOC116276511, LOC116276512, LOC116276513, LOC116276514, LOC116276515, LOC116286188, LOC116286189, LOC117038783, LOC117038785, LOC117038786, LOC117038787, LOC117038788, LOC117038789, LOC117038790, LOC117038791, LOC117038792, LOC117038793, LOC117038794, LOC117038795, LOC117125585, LOC117125586, LOC117125587, LOC117125588, LOC117125589, LOC117125590, LOC117125591, TRIR, TRMT1, TRT-AGT1-3, TSHZ3, TSPAN16, TSSK6, TTC9B, TYROBP, U2AF1L4, UBA2, UBA52, UCA1, UCA1-AS1, UNC13A, UPF1, UPK1A, UPK1A-AS1, UQCRFS1, UQCRFS1-DT, URI1, USE1, USF2, USHBP1, VSTM2B, VSTM2B-DT, WDR62, WDR83, WDR83OS, WDR87, WDR87BP, WDR88, WIZ, WTIP, XRCC1, YIF1B, YJEFN3, YJU2B, ZBTB32, ZFP14, ZFP30, ZFP36, ZFP82, ZNF100, ZNF101, ZNF112, ZNF136, ZNF14, ZNF146, ZNF155, ZNF180, ZNF181, ZNF20, ZNF208, ZNF221, ZNF222, ZNF222-DT, ZNF223, ZNF224, ZNF225, ZNF225-AS1, ZNF226, ZNF227, ZNF229, ZNF230, ZNF230-DT, ZNF233, ZNF234, ZNF235, ZNF253, ZNF254, ZNF257, ZNF260, ZNF283, ZNF284, ZNF285, ZNF30, ZNF30-AS1, ZNF302, ZNF333, ZNF345, ZNF382, ZNF383, ZNF404, ZNF420, ZNF428, ZNF429, ZNF43, ZNF430, ZNF431, ZNF433, ZNF433-AS1, ZNF439, ZNF44, ZNF440, ZNF441, ZNF442, ZNF443, ZNF45, ZNF45-AS1, ZNF461, ZNF486, ZNF490, ZNF491, ZNF492, ZNF493, ZNF506, ZNF507, ZNF526, ZNF527, ZNF529, ZNF529-AS1, ZNF536, ZNF540, ZNF546, ZNF563, ZNF564, ZNF565, ZNF566, ZNF566-AS1, ZNF567, ZNF567-DT, ZNF568, ZNF569, ZNF570, ZNF571, ZNF571-AS1, ZNF573, ZNF574, ZNF575, ZNF576, ZNF585A, ZNF585B, ZNF599, ZNF607, ZNF625, ZNF625-ZNF20, ZNF626, ZNF627, ZNF653, ZNF66, ZNF675, ZNF676, ZNF681, ZNF682, ZNF69, ZNF700, ZNF708, ZNF709, ZNF714, ZNF723, ZNF724, ZNF726, ZNF728, ZNF729, ZNF730, ZNF737, ZNF738, ZNF763, ZNF780A, ZNF780B, ZNF781, ZNF790, ZNF790-AS1, ZNF791, ZNF792, ZNF793, ZNF793-AS1, ZNF799, ZNF823, ZNF829, ZNF844, ZNF85, ZNF850, ZNF875, ZNF878, ZNF90, ZNF91, ZNF93, ZNF98, ZNF99, ZSWIM4
See casesPathogenic
(Mar 30, 2010)
no assertion criteria provided
2.
GRCh37:
Chr19:37810279-43242840
GRCh38:
Chr19:37319377-42738688
ACP7, ACTMAP, ACTN4, AKT2, ARHGEF1, ATP1A3, AXL, B3GNT8, B9D2, BCKDHA, BLVRB, C19orf33, C19orf47, CAPN12, CATSPERG, CCDC97, CCER2, CCNP, CD79A, CEACAM1, CEACAM21, CEACAM3, CEACAM4, CEACAM5, CEACAM6, CEACAM7, CEACAM8, CIC, CLC, CNFN, COQ8B, CXCL17, CYP2A13, CYP2A6, CYP2A7, CYP2B6, CYP2F1, CYP2S1, DEDD2, DLL3, DMAC2, DMRTC2, DPF1, DYRK1B, ECH1, EGLN2, EID2, EID2B, EIF3K, ERF, ERFL, ERICH4, EXOSC5, FAM98C, FBL, FBXO17, FBXO27, FCGBP, GGN, GMFG, GRIK5, GSK3A, HIPK4, HNRNPL, HNRNPUL1, IFNL1, IFNL2, IFNL3, IFNL4, ITPKC, KCNK6, LEUTX, LGALS13, LGALS14, LGALS16, LGALS4, LGALS7, LGALS7B, LINC01480, LIPE, LIPE-AS1, LNROP, LOC101930071, LOC105372394, LOC110121465, LOC110599575, LOC110599577, LOC110673974, LOC111501767, LOC111811970, LOC112543488, LOC112543489, LOC112552149, LOC112552150, LOC112552151, LOC112552152, LOC112552153, LOC113939973, LOC116276514, LOC116276515, LOC121627872, LOC121627873, LOC121627874, LOC121627875, LOC121627876, LOC121627877, LOC121852987, LOC121852988, LOC125371510, LOC125371511, LOC125371513, LOC125371514, LOC125371515, LOC125371516, LOC125371517, LOC125371518, LOC125371519, LOC125371520, LOC125371521, LOC125371522, LOC125371523, LOC125371524, LOC126862900, LOC126862901, LOC126862902, LOC126862903, LOC126862904, LOC126862905, LOC126862906, LOC126862907, LOC126862908, LOC126862909, LOC126862910, LOC126862911, LOC126862912, LOC129391103, LOC129391104, LOC129391105, LOC129391106, LOC129391107, LOC129391108, LOC129391109, LOC129391110, LOC129391111, LOC129391112, LOC129391113, LOC129391114, LOC129391115, LOC129391116, LOC129391117, LOC130064313, LOC130064314, LOC130064315, LOC130064316, LOC130064317, LOC130064318, LOC130064319, LOC130064320, LOC130064321, LOC130064322, LOC130064323, LOC130064324, LOC130064325, LOC130064326, LOC130064327, LOC130064328, LOC130064329, LOC130064330, LOC130064331, LOC130064332, LOC130064333, LOC130064334, LOC130064335, LOC130064336, LOC130064337, LOC130064338, LOC130064339, LOC130064340, LOC130064341, LOC130064342, LOC130064343, LOC130064344, LOC130064345, LOC130064346, LOC130064347, LOC130064348, LOC130064349, LOC130064350, LOC130064351, LOC130064352, LOC130064353, LOC130064354, LOC130064355, LOC130064356, LOC130064357, LOC130064358, LOC130064359, LOC130064360, LOC130064361, LOC130064362, LOC130064363, LOC130064364, LOC130064365, LOC130064366, LOC130064367, LOC130064368, LOC130064369, LOC130064370, LOC130064371, LOC130064372, LOC130064373, LOC130064374, LOC130064375, LOC130064376, LOC130064377, LOC130064378, LOC130064379, LOC130064380, LOC130064381, LOC130064382, LOC130064383, LOC130064384, LOC130064385, LOC130064386, LOC130064387, LOC130064388, LOC130064389, LOC130064390, LOC130064391, LOC130064392, LOC130064393, LOC130064394, LOC130064395, LOC130064396, LOC130064397, LOC130064398, LOC130064399, LOC130064400, LOC130064401, LOC130064402, LOC130064403, LOC130064404, LOC130064405, LOC130064406, LOC130064407, LOC130064408, LOC130064409, LOC130064410, LOC130064411, LOC130064412, LOC130064413, LOC130064414, LOC130064415, LOC130064416, LOC130064417, LOC130064418, LOC130064419, LOC130064420, LOC130064421, LOC130064422, LOC130064423, LOC130064424, LOC130064425, LOC130064426, LOC130064427, LOC130064428, LOC130064429, LOC130064430, LOC130064431, LOC130064432, LOC130064433, LOC130064434, LOC130064435, LOC130064436, LOC130064437, LOC130064438, LOC130064439, LOC130064440, LOC130064441, LOC130064442, LOC130064443, LOC130064444, LOC130064445, LOC130064446, LOC130064447, LOC130064448, LOC130064449, LOC130064450, LOC130064451, LOC130064452, LOC130064453, LOC130064454, LOC130064455, LOC130064456, LOC130064457, LOC130064458, LOC130064459, LOC130064460, LOC130064461, LOC130064462, LOC130064463, LOC130064464, LOC130064465, LOC130064466, LOC130064467, LOC130064468, LOC130064469, LOC130064470, LOC130064471, LOC130064472, LOC130064473, LOC130064474, LOC130064475, LOC130064476, LOC130064477, LOC130064478, LOC130064479, LOC130064480, LOC130064481, LOC130064482, LOC130064483, LOC130064484, LOC130064485, LOC130064486, LOC130064487, LOC130064488, LOC130064489, LOC130064490, LOC130064491, LOC130064492, LOC130064493, LOC130064494, LOC130064495, LOC130064496, LOC130064497, LOC130064498, LOC130064499, LOC130064500, LOC130064501, LOC130064502, LOC130064503, LOC130064504, LOC130064505, LOC130064506, LOC130064507, LOC130064508, LOC130064509, LOC130064510, LOC130064511, LOC130064512, LOC130064513, LOC130064514, LOC130064515, LOC130064516, LOC130064517, LOC130064518, LOC130064519, LOC130064520, LOC130064521, LOC130064522, LOC130064523, LOC130064524, LOC130064525, LOC130064526, LOC130064527, LOC130064528, LOC130064529, LOC130064530, LOC130064531, LOC130064532, LOC130064533, LOC130064534, LOC130064535, LOC130064536, LOC130064537, LOC130064538, LOC130064539, LOC130064540, LOC130064541, LOC130064542, LOC130064543, LOC130064544, LOC130064545, LOC130064546, LOC130064547, LOC130064548, LOC130064549, LOC130064550, LOC130064551, LOC130064552, LOC130064553, LOC130064554, LOC130064555, LOC130064556, LOC130064557, LOC130064558, LOC130064559, LOC130064560, LOC130064561, LOC130064562, LOC130064563, LOC130064564, LOC130064565, LOC130064566, LOC130064567, LOC130064568, LOC130064569, LOC130064570, LOC130064571, LOC130064572, LOC130064573, LOC130064574, LOC130064575, LOC130064576, LOC130064577, LOC130064578, LOC130064579, LOC130064580, LOC130064581, LOC130064582, LOC130064583, LOC130064584, LOC130064585, LOC130064586, LOC130064587, LOC130064588, LOC130064589, LOC644554, LRFN1, LTBP4, LYPD4, MAP3K10, MAP4K1, MAP4K1-AS1, MED29, MEGF8, MIA, MIA-RAB4B, MIR4323, MIR4530, MIR641, MIR6719, MIR6796, MIR6797, MIR8077, MRPS12, NCCRP1, NFKBIB, NUMBL, PAF1, PAFAH1B3, PAK4, PCAT19, PLD3, PLEKHG2, POU2F2, POU2F2-AS2, PPP1R14A, PRR19, PRX, PSG3, PSMC4, PSMD8, RAB4B, RAB4B-EGLN2, RABAC1, RASGRP4, RINL, RPS16, RPS19, RYR1, SAMD4B, SARS2, SELENOV, SERTAD1, SERTAD3, SERTAD3-AS1, SHKBP1, SIPA1L3, SIRT2, SNORD152, SNORD175, SNRPA, SPINT2, SPRED3, SPTBN4, SUPT5H, SYCN, TGFB1, TIMM50, TMEM145, TMEM91, TRI-TAT1-1, TTC9B, WDR87, WDR87BP, YIF1B, ZFP30, ZFP36, ZNF526, ZNF527, ZNF540, ZNF546, ZNF569, ZNF570, ZNF571, ZNF571-AS1, ZNF573, ZNF574, ZNF607, ZNF780A, ZNF780B, ZNF781, ZNF793, ZNF793-AS1, ZNF875
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
3.
GRCh37:
Chr19:41903421
GRCh38:
Chr19:41397516
BCKDHAnot providedBenign
(Jun 19, 2018)
criteria provided, single submitter
4.
GRCh37:
Chr19:41903572
GRCh38:
Chr19:41397667
BCKDHAnot providedBenign
(Sep 18, 2018)
criteria provided, single submitter
5.
GRCh37:
Chr19:41903574
GRCh38:
Chr19:41397669
BCKDHAnot providedBenign
(Jul 10, 2018)
criteria provided, single submitter
6.
GRCh37:
Chr19:41903574
GRCh38:
Chr19:41397669
BCKDHAnot providedLikely benign
(Sep 18, 2018)
criteria provided, single submitter
7.
GRCh37:
Chr19:41903671
GRCh38:
Chr19:41397766
BCKDHAnot providedBenign
(Mar 3, 2015)
criteria provided, single submitter
8.
GRCh37:
Chr19:41903675
GRCh38:
Chr19:41397770
BCKDHAnot providedBenign
(Mar 3, 2015)
criteria provided, single submitter
9.
GRCh37:
Chr19:41903699
GRCh38:
Chr19:41397794
BCKDHAnot specified, Maple syrup urine diseaseBenign/Likely benign
(Jul 14, 2021)
criteria provided, multiple submitters, no conflicts
10.
GRCh37:
Chr19:41903705
GRCh38:
Chr19:41397800
BCKDHAnot specifiedBenign
(Jun 28, 2016)
criteria provided, single submitter
11.
GRCh37:
Chr19:41903708
GRCh38:
Chr19:41397803
BCKDHAnot specified, Maple syrup urine diseaseConflicting interpretations of pathogenicity
(Feb 22, 2018)
criteria provided, conflicting interpretations
12.
GRCh37:
Chr19:41903711
GRCh38:
Chr19:41397806
BCKDHAnot specifiedLikely benign
(Nov 9, 2016)
criteria provided, single submitter
13.
GRCh37:
Chr19:41903729-41903730
GRCh38:
Chr19:41397824-41397825
BCKDHAI5fsMaple syrup urine diseasePathogenic
(May 18, 2022)
criteria provided, single submitter
14.
GRCh37:
Chr19:41903735
GRCh38:
Chr19:41397830
BCKDHAM1IMaple syrup urine diseaseLikely pathogenic
(Jan 15, 2018)
criteria provided, single submitter
15.
GRCh37:
Chr19:41903738
GRCh38:
Chr19:41397833
BCKDHAMaple syrup urine diseaseLikely benign
(Nov 20, 2021)
criteria provided, single submitter
16.
GRCh37:
Chr19:41903744
GRCh38:
Chr19:41397839
BCKDHAMaple syrup urine diseaseLikely benign
(Oct 3, 2021)
criteria provided, single submitter
17.
GRCh37:
Chr19:41903746
GRCh38:
Chr19:41397841
BCKDHAI5TInborn genetic diseasesUncertain significance
(May 10, 2023)
criteria provided, single submitter
18.
GRCh37:
Chr19:41903746
GRCh38:
Chr19:41397841
BCKDHAI5fsnot provided, Maple syrup urine diseasePathogenic/Likely pathogenic
(Apr 12, 2023)
criteria provided, multiple submitters, no conflicts
19.
GRCh37:
Chr19:41903747
GRCh38:
Chr19:41397842
BCKDHAMaple syrup urine diseaseLikely benign
(Oct 21, 2022)
criteria provided, single submitter
20.
GRCh37:
Chr19:41903747
GRCh38:
Chr19:41397842
BCKDHAnot specified, Maple syrup urine disease, Inborn genetic diseases,
not provided
Benign/Likely benign
(Mar 1, 2023)
criteria provided, multiple submitters, no conflicts
21.
GRCh37:
Chr19:41903753
GRCh38:
Chr19:41397848
BCKDHAMaple syrup urine disease, Inborn genetic diseasesLikely benign
(Dec 20, 2021)
criteria provided, multiple submitters, no conflicts
22.
GRCh37:
Chr19:41903753
GRCh38:
Chr19:41397848
BCKDHAInborn genetic diseasesLikely benign
(Nov 2, 2021)
criteria provided, single submitter
23.
GRCh37:
Chr19:41903754
GRCh38:
Chr19:41397849
BCKDHAA8PInborn genetic diseasesUncertain significance
(Nov 2, 2021)
criteria provided, single submitter
24.
GRCh37:
Chr19:41903756
GRCh38:
Chr19:41397851
BCKDHAMaple syrup urine diseaseLikely benign
(Mar 11, 2019)
criteria provided, single submitter
25.
GRCh37:
Chr19:41903759
GRCh38:
Chr19:41397854
BCKDHAMaple syrup urine diseaseLikely benign
(Oct 31, 2022)
criteria provided, single submitter
26.
GRCh37:
Chr19:41903760
GRCh38:
Chr19:41397855
BCKDHAV10FMaple syrup urine diseaseUncertain significance
(Aug 27, 2021)
criteria provided, single submitter
27.
GRCh37:
Chr19:41903762
GRCh38:
Chr19:41397857
BCKDHAMaple syrup urine diseaseLikely benign
(Nov 4, 2020)
criteria provided, single submitter
28.
GRCh37:
Chr19:41903762
GRCh38:
Chr19:41397857
BCKDHAMaple syrup urine diseaseLikely benign
(Apr 28, 2022)
criteria provided, single submitter
29.
GRCh37:
Chr19:41903764
GRCh38:
Chr19:41397859
BCKDHAW11*Maple syrup urine diseaseLikely pathogenic
(Feb 16, 2023)
criteria provided, single submitter
30.
GRCh37:
Chr19:41903765
GRCh38:
Chr19:41397860
BCKDHAW11*Maple syrup urine diseasePathogenic
(Jun 25, 2021)
criteria provided, single submitter
31.
GRCh37:
Chr19:41903766
GRCh38:
Chr19:41397861
BCKDHAnot specified, Maple syrup urine diseaseBenign/Likely benign
(Nov 4, 2022)
criteria provided, multiple submitters, no conflicts
32.
GRCh37:
Chr19:41903767
GRCh38:
Chr19:41397862
BCKDHAR12QMaple syrup urine diseaseUncertain significance
(Jul 6, 2022)
criteria provided, single submitter
33.
GRCh37:
Chr19:41903767
GRCh38:
Chr19:41397862
BCKDHAR12PMaple syrup urine diseaseLikely benign
(Sep 6, 2022)
criteria provided, single submitter
34.
GRCh37:
Chr19:41903771
GRCh38:
Chr19:41397866
BCKDHAN14fsMaple syrup urine diseasePathogenic
(Aug 9, 2022)
criteria provided, single submitter
35.
GRCh37:
Chr19:41903771
GRCh38:
Chr19:41397866
BCKDHAMaple syrup urine diseaseLikely benign
(Jun 8, 2022)
criteria provided, single submitter
36.
GRCh37:
Chr19:41903774
GRCh38:
Chr19:41397869
BCKDHAMaple syrup urine diseaseLikely benign
(Dec 18, 2020)
criteria provided, single submitter
37.
GRCh37:
Chr19:41903775
GRCh38:
Chr19:41397870
BCKDHAR15CMaple syrup urine diseaseUncertain significance
(Aug 24, 2021)
criteria provided, single submitter
38.
GRCh37:
Chr19:41903779
GRCh38:
Chr19:41397874
BCKDHAG16DMaple syrup urine diseaseUncertain significance
(Sep 2, 2021)
criteria provided, single submitter
39.
GRCh37:
Chr19:41903791
GRCh38:
Chr19:41397886
BCKDHAA20VMaple syrup urine diseaseUncertain significance
(Jun 5, 2022)
criteria provided, single submitter
40.
GRCh37:
Chr19:41903792
GRCh38:
Chr19:41397887
BCKDHAMaple syrup urine diseaseLikely benign
(Jul 14, 2022)
criteria provided, single submitter
41.
GRCh37:
Chr19:41903792
GRCh38:
Chr19:41397887
BCKDHAMaple syrup urine diseaseLikely benign
(Sep 27, 2022)
criteria provided, single submitter
42.
GRCh37:
Chr19:41903794
GRCh38:
Chr19:41397889
BCKDHAA21Vnot providedUncertain significance
(Aug 24, 2022)
criteria provided, single submitter
43.
GRCh37:
Chr19:41903795
GRCh38:
Chr19:41397890
BCKDHAnot specified, Maple syrup urine diseaseLikely benign
(Nov 18, 2021)
criteria provided, multiple submitters, no conflicts
44.
GRCh37:
Chr19:41903795
GRCh38:
Chr19:41397890
BCKDHAnot provided, Maple syrup urine diseaseConflicting interpretations of pathogenicity
(Oct 22, 2022)
criteria provided, conflicting interpretations
45.
GRCh37:
Chr19:41903797
GRCh38:
Chr19:41397892
BCKDHAL22fsMaple syrup urine diseaseLikely pathogenic
(Mar 26, 2021)
criteria provided, single submitter
46.
GRCh37:
Chr19:41903798
GRCh38:
Chr19:41397893
BCKDHAL23fsMaple syrup urine diseasePathogenic
(Mar 8, 2022)
criteria provided, single submitter
47.
GRCh37:
Chr19:41903798
GRCh38:
Chr19:41397893
BCKDHAMaple syrup urine diseaseLikely benign
(Jan 12, 2022)
criteria provided, single submitter
48.
GRCh37:
Chr19:41903801
GRCh38:
Chr19:41397896
BCKDHAMaple syrup urine diseaseLikely benign
(Mar 24, 2020)
criteria provided, single submitter
49.
GRCh37:
Chr19:41903805
GRCh38:
Chr19:41397900
BCKDHAMaple syrup urine diseaseLikely benign
(Aug 19, 2022)
criteria provided, single submitter
50.
GRCh37:
Chr19:41903807
GRCh38:
Chr19:41397902
BCKDHAMaple syrup urine diseaseLikely benign
(Sep 18, 2018)
criteria provided, single submitter
51.
GRCh37:
Chr19:41903809
GRCh38:
Chr19:41397904
BCKDHAQ27fsMaple syrup urine diseasePathogenic
(Aug 20, 2020)
criteria provided, single submitter
52.
GRCh37:
Chr19:41903819
GRCh38:
Chr19:41397914
BCKDHAMaple syrup urine diseaseLikely benign
(Dec 27, 2018)
criteria provided, single submitter
53.
GRCh37:
Chr19:41903844
GRCh38:
Chr19:41397939
BCKDHAMaple syrup urine diseaseUncertain significance
(Feb 24, 2022)
criteria provided, single submitter
54.
GRCh37:
Chr19:41903845
GRCh38:
Chr19:41397940
BCKDHAMaple syrup urine diseaseLikely pathogenic
(Aug 13, 2021)
criteria provided, single submitter
55.
GRCh37:
Chr19:41903848
GRCh38:
Chr19:41397943
BCKDHAMaple syrup urine diseaseLikely benign
(May 11, 2021)
criteria provided, single submitter
56.
GRCh37:
Chr19:41903852
GRCh38:
Chr19:41397947
BCKDHAMaple syrup urine diseaseUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
57.
GRCh37:
Chr19:41904165
GRCh38:
Chr19:41398260
BCKDHAnot providedBenign
(Jun 19, 2018)
criteria provided, single submitter
58.
GRCh37:
Chr19:41916526
GRCh38:
Chr19:41410621
BCKDHAMaple syrup urine diseaseLikely benign
(Mar 8, 2021)
criteria provided, single submitter
59.
GRCh37:
Chr19:41916527
GRCh38:
Chr19:41410622
BCKDHAMaple syrup urine diseaseUncertain significance
(Jul 1, 2022)
criteria provided, single submitter
60.
GRCh37:
Chr19:41916533
GRCh38:
Chr19:41410628
BCKDHAMaple syrup urine diseaseLikely benign
(Sep 28, 2022)
criteria provided, single submitter
61.
GRCh37:
Chr19:41916533
GRCh38:
Chr19:41410628
BCKDHAMaple syrup urine diseaseLikely benign
(Apr 3, 2022)
criteria provided, single submitter
62.
GRCh37:
Chr19:41916536
GRCh38:
Chr19:41410631
BCKDHAMaple syrup urine diseaseLikely benign
(Feb 10, 2022)
criteria provided, single submitter
63.
GRCh37:
Chr19:41916537
GRCh38:
Chr19:41410632
BCKDHAMaple syrup urine diseaseLikely benign
(May 7, 2019)
criteria provided, single submitter
64.
GRCh37:
Chr19:41916538
GRCh38:
Chr19:41410633
BCKDHAMaple syrup urine diseaseLikely benign
(Apr 12, 2020)
criteria provided, single submitter
65.
GRCh37:
Chr19:41916541
GRCh38:
Chr19:41410636
BCKDHAMaple syrup urine diseasePathogenic
(Oct 21, 2022)
criteria provided, single submitter
66.
GRCh37:
Chr19:41916541-41916552
GRCh38:
Chr19:41410636-41410647
BCKDHAMaple syrup urine diseaseUncertain significance
(Aug 21, 2022)
criteria provided, multiple submitters, no conflicts
67.
GRCh37:
Chr19:41916543-41916544
GRCh38:
Chr19:41410638-41410639
BCKDHAR40fsMaple syrup urine diseasePathogenic
(Mar 14, 2020)
criteria provided, single submitter
68.
GRCh37:
Chr19:41916543-41916544
GRCh38:
Chr19:41410638-41410639
BCKDHAR40fsInborn genetic diseases, not provided, Maple syrup urine disease
Pathogenic
(Oct 19, 2022)
criteria provided, multiple submitters, no conflicts
69.
GRCh37:
Chr19:41916544
GRCh38:
Chr19:41410639
BCKDHAR40fsnot provided, Maple syrup urine disease type 1A, Maple syrup urine disease
Pathogenic
(Oct 14, 2022)
criteria provided, multiple submitters, no conflicts
70.
GRCh37:
Chr19:41916547
GRCh38:
Chr19:41410642
BCKDHAnot specified, Maple syrup urine diseaseBenign
(Nov 4, 2022)
criteria provided, multiple submitters, no conflicts
71.
GRCh37:
Chr19:41916547
GRCh38:
Chr19:41410642
BCKDHAInborn genetic diseases, not specified, Maple syrup urine disease
Benign/Likely benign
(Oct 26, 2022)
criteria provided, multiple submitters, no conflicts
72.
GRCh37:
Chr19:41916548
GRCh38:
Chr19:41410643
BCKDHAP39SMaple syrup urine diseaseLikely benign
(Sep 22, 2022)
criteria provided, single submitter
73.
GRCh37:
Chr19:41916549
GRCh38:
Chr19:41410644
BCKDHAP39RMaple syrup urine diseaseLikely benign
(Oct 31, 2022)
criteria provided, single submitter
74.
GRCh37:
Chr19:41916549
GRCh38:
Chr19:41410644
BCKDHAP39Hnot specified, Maple syrup urine disease, not provided
Benign/Likely benign
(Nov 4, 2022)
criteria provided, multiple submitters, no conflicts
75.
GRCh37:
Chr19:41916550
GRCh38:
Chr19:41410645
BCKDHAMaple syrup urine diseaseLikely benign
(Apr 11, 2022)
criteria provided, single submitter
76.
GRCh37:
Chr19:41916550
GRCh38:
Chr19:41410645
BCKDHAMaple syrup urine diseaseLikely benign
(Aug 5, 2022)
criteria provided, single submitter
77.
GRCh37:
Chr19:41916550
GRCh38:
Chr19:41410645
BCKDHAInborn genetic diseases, not provided, Maple syrup urine disease
Likely benign
(Oct 25, 2022)
criteria provided, multiple submitters, no conflicts
78.
GRCh37:
Chr19:41916552-41916553
GRCh38:
Chr19:41410647-41410648
BCKDHAMaple syrup urine diseaseUncertain significance
(Dec 29, 2017)
criteria provided, single submitter
79.
GRCh37:
Chr19:41916556
GRCh38:
Chr19:41410651
BCKDHAMaple syrup urine diseaseLikely benign
(Apr 14, 2022)
criteria provided, single submitter
80.
GRCh37:
Chr19:41916558
GRCh38:
Chr19:41410653
BCKDHAQ42RMaple syrup urine diseaseConflicting interpretations of pathogenicity
(Oct 19, 2022)
criteria provided, conflicting interpretations
81.
GRCh37:
Chr19:41916559
GRCh38:
Chr19:41410654
BCKDHAMaple syrup urine diseaseLikely benign
(Aug 23, 2022)
criteria provided, single submitter
82.
GRCh37:
Chr19:41916560
GRCh38:
Chr19:41410655
BCKDHAQ43*Maple syrup urine diseasePathogenic/Likely pathogenic
(Sep 14, 2022)
criteria provided, multiple submitters, no conflicts
83.
GRCh37:
Chr19:41916562
GRCh38:
Chr19:41410657
BCKDHAMaple syrup urine diseaseLikely benign
(Jan 30, 2021)
criteria provided, single submitter
84.
GRCh37:
Chr19:41916563
GRCh38:
Chr19:41410658
BCKDHAQ44*Maple syrup urine diseasePathogenic
(Feb 4, 2022)
criteria provided, single submitter
85.
GRCh37:
Chr19:41916568
GRCh38:
Chr19:41410663
BCKDHAF45LMaple syrup urine diseaseUncertain significance
(Sep 2, 2021)
criteria provided, single submitter
86.
GRCh37:
Chr19:41916570
GRCh38:
Chr19:41410665
BCKDHAS46*Maple syrup urine diseasePathogenic/Likely pathogenic
(Oct 17, 2022)
criteria provided, multiple submitters, no conflicts
87.
GRCh37:
Chr19:41916571
GRCh38:
Chr19:41410666
BCKDHAMaple syrup urine diseaseLikely benign
(Mar 15, 2022)
criteria provided, single submitter
88.
GRCh37:
Chr19:41916576
GRCh38:
Chr19:41410671
BCKDHAL48fsMaple syrup urine diseasePathogenic
(Nov 7, 2021)
criteria provided, multiple submitters, no conflicts
89.
GRCh37:
Chr19:41916576
GRCh38:
Chr19:41410671
BCKDHAL48PMaple syrup urine diseaseUncertain significance
(Jan 12, 2018)
criteria provided, single submitter
90.
GRCh37:
Chr19:41916581
GRCh38:
Chr19:41410676
BCKDHAD50HMaple syrup urine diseaseUncertain significance
(Jun 20, 2022)
criteria provided, single submitter
91.
GRCh37:
Chr19:41916589
GRCh38:
Chr19:41410684
BCKDHAMaple syrup urine diseaseLikely benign
(May 14, 2022)
criteria provided, single submitter
92.
GRCh37:
Chr19:41916592
GRCh38:
Chr19:41410687
BCKDHAQ53HMaple syrup urine diseaseConflicting interpretations of pathogenicity
(Oct 21, 2022)
criteria provided, conflicting interpretations
93.
GRCh37:
Chr19:41916598
GRCh38:
Chr19:41410693
BCKDHAMaple syrup urine diseaseLikely benign
(Mar 10, 2020)
criteria provided, single submitter
94.
GRCh37:
Chr19:41916604
GRCh38:
Chr19:41410699
BCKDHAMaple syrup urine diseaseLikely benign
(Sep 26, 2021)
criteria provided, single submitter
95.
GRCh37:
Chr19:41916606
GRCh38:
Chr19:41410701
BCKDHAS58LMaple syrup urine diseaseUncertain significance
(May 5, 2021)
criteria provided, single submitter
96.
GRCh37:
Chr19:41916607
GRCh38:
Chr19:41410702
BCKDHAMaple syrup urine diseaseLikely benign
(Nov 2, 2022)
criteria provided, single submitter
97.
GRCh37:
Chr19:41916609
GRCh38:
Chr19:41410704
BCKDHAA59VMaple syrup urine diseaseLikely benign
(Oct 28, 2022)
criteria provided, single submitter
98.
GRCh37:
Chr19:41916610
GRCh38:
Chr19:41410705
BCKDHAMaple syrup urine disease, Inborn genetic diseasesLikely benign
(May 31, 2021)
criteria provided, multiple submitters, no conflicts
99.
GRCh37:
Chr19:41916619
GRCh38:
Chr19:41410714
BCKDHAMaple syrup urine diseaseLikely benign
(Aug 21, 2022)
criteria provided, single submitter
100.
GRCh37:
Chr19:41916625
GRCh38:
Chr19:41410720
BCKDHAMaple syrup urine diseaseLikely benign
(Nov 26, 2021)
criteria provided, single submitter
Format
Items per page
Sort by
Choose Destination