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Items: 1 to 100 of 1020

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr1:187113113-224487119
GRCh38:
Chr1:187143981-224299417
LOC129932244, LOC129932245, LOC129932246, LOC129932247, LOC129932248, LOC129932249, LOC129932250, LOC129932251, LOC129932252, LOC129932253, LOC129932254, LOC129932255, LOC129932256, LOC129932257, LOC129932258, LOC129932259, LOC129932260, LOC129932261, LOC129932262, LOC129932263, LOC129932264, LOC129932265, LOC129932266, LOC129932267, LOC129932268, LOC129932269, LOC129932270, LOC129932271, LOC129932272, LOC129932273, LOC129932274, LOC129932275, LOC129932276, LOC129932277, LOC129932278, LOC129932279, LOC129932280, LOC129932281, LOC129932282, LOC129932283, LOC129932284, LOC129932285, LOC129932286, LOC129932287, LOC129932288, LOC129932289, LOC129932290, LOC129932291, LOC129932292, LOC129932293, LOC129932294, LOC129932295, LOC129932296, LOC129932297, LOC129932298, LOC129932299, LOC129932300, LOC129932301, LOC129932302, LOC129932303, LOC129932304, LOC129932305, LOC129932306, LOC129932307, LOC129932308, LOC129932309, LOC129932310, LOC129932311, LOC129932312, LOC129932313, LOC129932314, LOC129932315, LOC129932316, LOC129932317, LOC129932318, LOC129932319, LOC129932320, LOC129932321, LOC129932322, LOC129932323, LOC129932324, LOC129932325, LOC129932326, LOC129932327, LOC129932328, LOC129932329, LOC129932330, LOC129932331, LOC129932332, LOC129932333, LOC129932334, LOC129932335, LOC129932336, LOC129932337, LOC129932338, LOC129932339, LOC129932340, LOC129932341, LOC129932342, LOC129932343, LOC129932344, LOC129932345, LOC129932346, LOC129932347, LOC129932348, LOC129932349, LOC129932350, LOC129932351, LOC129932352, LOC129932353, LOC129932354, LOC129932355, LOC129932356, LOC129932357, LOC129932358, LOC129932359, LOC129932360, LOC129932361, LOC129932362, LOC129932363, LOC129932364, LOC129932365, LOC129932366, LOC129932367, LOC129932368, LOC129932369, LOC129932370, LOC129932371, LOC129932372, LOC129932373, LOC129932374, LOC129932375, LOC129932376, LOC129932377, LOC129932378, LOC129932379, LOC129932380, LOC129932381, LOC129932382, LOC129932383, LOC129932384, LOC129932385, LOC129932386, LOC129932387, LOC129932388, LOC129932389, LOC129932390, LOC129932391, LOC129932392, LOC129932393, LOC129932394, LOC129932395, LOC129932396, LOC129932397, LOC129932398, LOC129932399, LOC129932400, LOC129932401, LOC129932402, LOC129932403, LOC129932404, LOC129932405, LOC129932406, LOC129932407, LOC129932408, LOC129932409, LOC129932410, LOC129932411, LOC129932412, LOC129932413, LOC129932414, LOC129932415, LOC129932416, LOC129932417, LOC129932418, LOC129932419, LOC129932420, LOC129932421, LOC129932422, LOC129932423, LOC129932424, LOC129932425, LOC129932426, LOC129932427, LOC129932428, LOC129932429, LOC129932430, LOC129932431, LOC129932432, LOC129932433, LOC129932434, LOC129932435, LOC129932436, LOC129932437, LOC129932438, LOC129932439, LOC129932440, LOC129932441, LOC129932442, LOC129932443, LOC129932444, LOC129932445, LOC129932446, LOC129932447, LOC129932448, LOC129932449, LOC129932450, LOC129932451, LOC129932452, LOC129932453, LOC129932454, LOC129932455, LOC129932456, LOC129932457, LOC129932458, LOC129932459, LOC129932460, LOC129932461, LOC129932462, LOC129932463, LOC129932464, LOC129932465, LOC129932466, LOC129932467, LOC129932468, LOC129932469, LOC129932470, LOC129932471, LOC129932472, LOC129932473, LOC129932474, LOC129932475, LOC129932476, LOC129932477, LOC129932478, LOC129932479, LOC129932480, LOC129932481, LOC129932482, LOC129932483, LOC129932484, LOC129932485, LOC129932486, LOC129932487, LOC129932488, LOC129932489, LOC129932490, LOC129932491, LOC129932492, LOC129932493, LOC129932494, LOC129932495, LOC129932496, LOC129932497, LOC129932498, LOC129932499, LOC129932500, LOC129932501, LOC129932502, LOC129932503, LOC129932504, LOC129932505, LOC129932506, LOC129932507, LOC129932508, LOC129932509, LOC129932510, LOC129932511, LOC129932512, LOC129932513, LOC129932514, LOC129932515, LOC129932516, LOC129932517, LOC129932518, LOC129932519, LOC129932520, LOC129932521, LOC129932522, LOC129932523, LOC129932524, LOC129932525, LOC129932526, LOC129932527, LOC129932528, LOC129932529, LOC129932530, LOC129932531, LOC129932532, LOC129932533, LOC129932534, LOC129932535, LOC129932536, LOC129932537, LOC129932538, LOC129932539, LOC129932540, LOC129932541, LOC129932542, LOC129932543, LOC129932544, LOC129932545, LOC129932546, LOC129932547, LOC129932548, LOC129932549, LOC129932550, LOC129932551, LOC129932552, LOC129932553, LOC129932554, LOC129932555, LOC129932556, LOC129932557, LOC129932558, LOC129932559, LOC129932560, LOC129932561, LOC129932562, LOC129932563, LOC129932564, LOC129932565, LOC129932566, LOC129932567, LOC129932568, LOC129932569, LOC129932570, LOC129932571, LOC129932572, LOC129932573, LOC129932574, LOC129932575, LOC129932576, LOC129932577, LOC129932578, LOC129932579, LOC129932580, LOC129932581, LOC129932582, LOC129932583, LOC129932584, LOC132088601, LOC132088602, LOC132088616, LOC132088617, LOC132088618, LOC132088619, LOC132088620, LOC132088621, LOC132088622, LOC132088623, LOC132088627, LOC132088628, LOC132088629, LOC132088630, LOC132088631, LOC132088632, LOC132088633, LOC132088634, LOC132088635, LOC132088636, LOC132088637, LOC132088638, LOC132088639, LOC132088640, LOC132088641, LOC132088644, LOC132088646, LOC132088647, LOC132088648, LOC132088649, LOC132088650, LOC132088651, LOC132088652, LOC132088653, LOC132088654, LOC132088656, LOC132088657, LOC132088658, LOC132088659, LOC132088660, LOC132088661, LOC132088662, LOC132088663, LOC132088664, LOC132088666, LOC132088667, LOC132090670, LOC132090671, LOC132090672, LOC132090673, LOC132090674, LOC132090675, LOC132090676, LOC132205953, LOC148696, LPGAT1, LPGAT1-AS1, LRRN2, LYPLAL1, LYPLAL1-AS1, LYPLAL1-DT, MAPKAPK2, MARK1, MDM4, MFSD4A, MFSD4A-AS1, MIA3, MIR1231, MIR1278, MIR135B, MIR181A1, MIR181A1HG, MIR181B1, MIR194-1, MIR205, MIR205HG, MIR215, MIR29B2, MIR29B2CHG, MIR29C, MIR3122, MIR320B2, MIR4260, MIR4426, MIR4735, MIR5191, MIR664A, MIR6739, MIR6740, MIR6769B, MTARC1, MTARC2, MYBPH, MYOG, MYOPARR, NAV1, NEK2, NEK2-DT, NEK7, NENF, NFASC, NR5A2, NSL1, NTRAS, NUAK2, NUCKS1, NVL, OPTC, PACC1, PCAT6, PFKFB2, PHLDA3, PIGR, PIK3C2B, PKP1, PLEKHA6, PLXNA2, PM20D1, PM20D1-AS1, PPFIA4, PPP1R12B, PPP1R15B, PPP2R5A, PRELP, PROX1, PROX1-AS1, PTPN14, PTPN7, PTPRC, RAB29, RAB3GAP2, RAB7B, RABIF, RASSF5, RBBP5, RCOR3, RD3, REN, RGS1, RGS13, RGS18, RGS2, RGS2-AS1, RGS21, RHEX, RNPEP, RO60, RPS6KC1, RRP15, SCARNA18B, SERTAD4, SERTAD4-AS1, SHISA4, SLC26A9, SLC26A9-AS1, SLC30A1, SLC30A10, SLC41A1, SLC45A3, SMYD2, SNORA16B, SNORA36B, SNORA70H, SNORA77, SNRPE, SOX13, SPATA17, SPATA17-AS1, SPATA45, SRGAP2, SUSD4, SYT14, SYT2, ERLNC1, ESRRG, ETNK2, F13B, FAM177B, FAM72A, FBXO28, FCAMR, FCMR, FLVCR1, FLVCR1-DT, FMOD, G0S2, GARIN4, GLRX2, GOLT1A, GPATCH2, GPR25, GPR37L1, HHAT, HHIPL2, HLX, HLX-AS1, HSD11B1, HSD11B1-AS1, IARS2, IGFN1, IKBKE, IKBKE-AS1, IL10, IL19, IL20, IL24, INAVA, INTS7, IPO9, IPO9-AS1, IRF6, KCNH1, KCNH1-IT1, KCNK2, KCNT2, KCTD3, KDM5B, KIF14, KIF21B, KISS1, KLHDC8A, KLHL12, LAD1, LAMB3, LAX1, LEMD1, LEMD1-AS1, LEMD1-DT, LGR6, LHX9, LINC00210, LINC00260, LINC00303, LINC00467, LINC00538, LINC00628, LINC00862, LINC01031, LINC01035, LINC01036, LINC01037, LINC01221, LINC01222, LINC01352, LINC01353, LINC01653, LINC01655, LINC01680, LINC01696, LINC01698, LINC01710, LINC01717, LINC01720, LINC01724, LINC01740, LINC01774, LINC02257, LINC02474, LINC02602, LINC02608, LINC02767, LINC02769, LINC02770, LINC02771, LINC02773, LINC02779, LINC02789, LINC02817, LINC02869, LINC02942, LMOD1, LOC101927143, LOC101927164, LOC101929305, LOC103021295, LOC107325941, LOC107325942, LOC107548112, LOC107988045, LOC108281163, LOC108281185, LOC110120610, LOC110120807, LOC110121042, LOC110121056, LOC110121057, LOC110121081, LOC110121257, LOC110121306, LOC111365207, LOC111429603, LOC111429604, LOC111429612, LOC111556116, LOC111721704, LOC112577523, LOC112577526, LOC112577527, LOC112577528, LOC112577529, LOC112577530, LOC112577531, LOC112577532, LOC112577533, LOC112577534, LOC112577535, LOC112577536, LOC112577537, LOC112577538, LOC112577542, LOC112577543, LOC113939983, LOC113939984, LOC114827844, LOC115804237, LOC115804238, LOC115804239, LOC115804240, LOC115804242, LOC115804243, LOC115804244, LOC115804245, LOC115804246, LOC120807609, LOC120807610, LOC120893169, LOC120893170, LOC120893171, LOC120893172, LOC120893173, LOC120893174, LOC120893175, LOC120893176, LOC120908903, LOC120908904, LOC120908905, LOC120908906, LOC120908907, LOC120908908, LOC120908909, LOC120908910, LOC121725067, LOC121725068, LOC121725069, LOC121725070, LOC121725071, LOC121725072, LOC121725073, LOC121725074, LOC122094914, LOC122128411, LOC122149331, LOC122149332, LOC122149333, LOC122149334, LOC122149335, LOC122149336, LOC122149337, LOC122149338, LOC122149339, LOC122149340, LOC122149341, LOC122149342, LOC122149343, LOC122149344, LOC122149345, LOC122149346, LOC122149347, LOC122149348, LOC122149349, LOC122149350, LOC122149351, LOC122149352, LOC122149353, LOC122149354, LOC122149355, LOC122149356, LOC122149357, LOC122149358, LOC122149359, LOC122149360, LOC122149361, LOC122149362, LOC122149487, LOC122149488, LOC122149489, LOC122149490, LOC122149491, LOC122149492, LOC122149493, LOC122149494, LOC122149495, LOC122149496, LOC122149497, LOC122152293, LOC122152294, LOC122152295, LOC122152296, LOC122152297, LOC122152298, LOC122152299, LOC122152300, LOC122152301, LOC122152302, LOC122152303, LOC122152304, LOC122152305, LOC122152306, LOC122152307, LOC122152308, LOC124904584, LOC126805957, LOC126805958, LOC126805959, LOC126805960, LOC126805961, LOC126805962, LOC126805963, LOC126805964, LOC126805965, LOC126805966, LOC126805967, LOC126805968, LOC126805969, LOC126805970, LOC126805971, LOC126805972, LOC126805973, LOC126805974, LOC126805975, LOC126805976, LOC126805977, LOC126805978, LOC126805979, LOC126805980, LOC126805981, LOC126805982, LOC126805983, LOC126805984, LOC126805985, LOC126805986, LOC126805987, LOC126805988, LOC126805989, LOC126805990, LOC126805991, LOC126805992, LOC126805993, LOC126805994, LOC126805995, LOC126805996, LOC126805997, LOC126805998, LOC126805999, LOC126806000, LOC126806001, LOC126806002, LOC126806003, LOC126806004, LOC126806005, LOC126806006, LOC126806007, LOC126806008, LOC126806009, LOC126806010, LOC126806011, LOC126806012, LOC126806013, LOC126806014, LOC126806015, LOC126806016, LOC126806017, LOC126806018, LOC126806019, LOC126806020, LOC126806021, LOC126806022, LOC126806023, LOC126806024, LOC126806025, LOC126806026, LOC126806027, LOC126806028, LOC126806029, LOC128031836, LOC128462409, LOC128462410, LOC128772232, LOC128772233, LOC128772234, LOC128772235, LOC128772236, LOC128772237, LOC128772238, LOC128772239, LOC128781582, LOC128781583, LOC129388669, LOC129388670, LOC129388671, LOC129388672, LOC129388673, LOC129388674, LOC129388675, LOC129388676, LOC129388677, LOC129388678, LOC129388679, LOC129388680, LOC129388681, LOC129388682, LOC129388683, LOC129388684, LOC129388685, LOC129388686, LOC129388687, LOC129388688, LOC129388689, LOC129388690, LOC129388691, LOC129388692, LOC129388693, LOC129388694, LOC129388695, LOC129388696, LOC129388697, LOC129388698, LOC129388699, LOC129388700, LOC129388701, LOC129388702, LOC129388703, LOC129388704, LOC129388705, LOC129388706, LOC129388707, LOC129388708, LOC129388709, LOC129388710, LOC129388711, LOC129388712, LOC129388713, LOC129388714, LOC129388715, LOC129388716, LOC129388717, LOC129388718, LOC129388719, LOC129388720, LOC129388721, LOC129388722, LOC129388723, LOC129388724, LOC129388725, LOC129388726, LOC129388727, LOC129388728, LOC129388729, LOC129388730, LOC129388731, LOC129388732, LOC129388733, LOC129388734, LOC129388735, LOC129388736, LOC129388737, LOC129388738, LOC129388739, LOC129388740, LOC129388741, LOC129388742, LOC129388743, LOC129388744, LOC129388745, LOC129388746, LOC129388747, LOC129388748, LOC129388749, LOC129388750, LOC129388751, LOC129388752, LOC129388753, LOC129388754, LOC129388755, LOC129388756, LOC129388757, LOC129932129, LOC129932130, LOC129932131, LOC129932132, LOC129932133, LOC129932134, LOC129932135, LOC129932136, LOC129932137, LOC129932138, LOC129932139, LOC129932140, LOC129932141, LOC129932142, LOC129932143, LOC129932144, LOC129932145, LOC129932146, LOC129932147, LOC129932148, LOC129932149, LOC129932150, LOC129932151, LOC129932152, LOC129932153, LOC129932154, LOC129932155, LOC129932156, LOC129932157, LOC129932158, LOC129932159, LOC129932160, LOC129932161, LOC129932162, LOC129932163, LOC129932164, LOC129932165, LOC129932166, LOC129932167, LOC129932168, LOC129932169, LOC129932170, LOC129932171, LOC129932172, LOC129932173, LOC129932174, LOC129932175, LOC129932176, LOC129932177, LOC129932178, LOC129932179, LOC129932180, LOC129932181, LOC129932182, LOC129932183, LOC129932184, LOC129932185, LOC129932186, LOC129932187, LOC129932188, LOC129932189, LOC129932190, LOC129932191, LOC129932192, LOC129932193, LOC129932194, LOC129932195, LOC129932196, LOC129932197, LOC129932198, LOC129932199, LOC129932200, LOC129932201, LOC129932202, LOC129932203, LOC129932204, LOC129932205, LOC129932206, LOC129932207, LOC129932208, LOC129932209, LOC129932210, LOC129932211, LOC129932212, LOC129932213, LOC129932214, LOC129932215, LOC129932216, LOC129932217, LOC129932218, LOC129932219, LOC129932220, LOC129932221, LOC129932222, LOC129932223, LOC129932224, LOC129932225, LOC129932226, LOC129932227, LOC129932228, LOC129932229, LOC129932230, LOC129932231, LOC129932232, LOC129932233, LOC129932234, LOC129932235, LOC129932236, LOC129932237, LOC129932238, LOC129932239, LOC129932240, LOC129932241, LOC129932242, LOC129932243, ADIPOR1, ADORA1, AIDA, ANGEL2, ARL8A, ASCL5, ASPM, ATF3, ATP2B4, ATP6V1G3, AVPR1B, AVPR1B-DT, B3GALT2, BATF3, BLACAT1, BMNCR, BPNT1, BRINP3, BRINP3-DT, BROX, BTG2, BTG2-DT, C1orf115, C1orf116, C1orf53, C1orf74, C4BPA, C4BPB, CACNA1S, CAMK1G, CAMSAP2, CAPN2, CAPN8, CCDC185, CD34, CD46, CD55, CDC73, CDK18, CENPF, CFH, CFHR1, CFHR2, CFHR3, CFHR4, CFHR5, CHI3L1, CHIT1, CNTN2, CR1, CR1L, CR2, CRB1, CSRP1, CSRP1-AS1, CTSE, CYB5R1, DDX59, DDX59-AS1, DEGS1, DENND1B, DISP1, DSTYK, DTL, DUSP10, DYRK3, DYRK3-AS1, EIF2D, ELF3, ELF3-AS1, ELK4, EPRS1, TAF1A, TAF1A-AS1, TATDN3, TGFB2, TGFB2-AS1, TGFB2-OT1, TIMM17A, TLR5, TMCC2, TMCC2-AS1, TMEM183A, TMEM81, TMEM9, TNNI1, TNNT2, TP53BP2, TRAF3IP3, TRAF5, TRK-TTT3-1, TRK-TTT3-2, TRK-TTT8-1, TRT-TGT2-1, UBE2T, UCHL5, USH2A, USH2A-AS1, USH2A-AS2, UTP25, VASH2, YOD1, ZBED6, ZBTB41, ZC3H11A, ZC3H11B, ZNF281
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
2.
GRCh37:
Chr1:204734042-225596400
GRCh38:
Chr1:204764914-225408698
LOC126806027, LOC126806028, LOC126806029, LOC126806030, LOC126806031, LOC128462409, LOC128462410, LOC128772232, LOC128772233, LOC128772234, LOC128772235, LOC128772236, LOC128772237, LOC128772238, LOC128772239, LOC128781582, LOC128781583, LOC129388733, LOC129388734, LOC129388735, LOC129388736, LOC129388737, LOC129388738, LOC129388739, LOC129388740, LOC129388741, LOC129388742, LOC129388743, LOC129388744, LOC129388745, LOC129388746, LOC129388747, LOC129388748, LOC129388749, LOC129388750, LOC129388751, LOC129388752, LOC129388753, LOC129388754, LOC129388755, LOC129388756, LOC129388757, LOC129388758, LOC129388759, LOC129932295, LOC129932296, LOC129932297, LOC129932298, LOC129932299, LOC129932300, LOC129932301, LOC129932302, LOC129932303, LOC129932304, LOC129932305, LOC129932306, LOC129932307, LOC129932308, LOC129932309, LOC129932310, LOC129932311, LOC129932312, LOC129932313, LOC129932314, LOC129932315, LOC129932316, LOC129932317, LOC129932318, LOC129932319, LOC129932320, LOC129932321, LOC129932322, LOC129932323, LOC129932324, LOC129932325, LOC129932326, LOC129932327, LOC129932328, LOC129932329, LOC129932330, LOC129932331, LOC129932332, LOC129932333, LOC129932334, LOC129932335, LOC129932336, LOC129932337, LOC129932338, LOC129932339, LOC129932340, LOC129932341, LOC129932342, LOC129932343, LOC129932344, LOC129932345, LOC129932346, LOC129932347, LOC129932348, LOC129932349, LOC129932350, LOC129932351, LOC129932352, LOC129932353, LOC129932354, LOC129932355, LOC129932356, LOC129932357, LOC129932358, LOC129932359, LOC129932360, LOC129932361, LOC129932362, LOC129932363, LOC129932364, LOC129932365, LOC129932366, LOC129932367, LOC129932368, LOC129932369, LOC129932370, LOC129932371, LOC129932372, LOC129932373, LOC129932374, LOC129932375, LOC129932376, LOC129932377, LOC129932378, LOC129932379, LOC129932380, LOC129932381, LOC129932382, LOC129932383, LOC129932384, LOC129932385, LOC129932386, LOC129932387, LOC129932388, LOC129932389, LOC129932390, LOC129932391, LOC129932392, LOC129932393, LOC129932394, LOC129932395, LOC129932396, LOC129932397, LOC129932398, LOC129932399, LOC129932400, LOC129932401, LOC129932402, LOC129932403, LOC129932404, LOC129932405, LOC129932406, LOC129932407, LOC129932408, LOC129932409, LOC129932410, LOC129932411, LOC129932412, LOC129932413, LOC129932414, LOC129932415, LOC129932416, LOC129932417, LOC129932418, LOC129932419, LOC129932420, LOC129932421, LOC129932422, LOC129932423, LOC129932424, LOC129932425, LOC129932426, LOC129932427, LOC129932428, LOC129932429, LOC129932430, LOC129932431, LOC129932432, LOC129932433, LOC129932434, LOC129932435, LOC129932436, LOC129932437, LOC129932438, LOC129932439, LOC129932440, LOC129932441, LOC129932442, LOC129932443, LOC129932444, LOC129932445, LOC129932446, LOC129932447, LOC129932448, LOC129932449, LOC129932450, LOC129932451, LOC129932452, LOC129932453, LOC129932454, LOC129932455, LOC129932456, LOC129932457, LOC129932458, LOC129932459, LOC129932460, LOC129932461, LOC129932462, LOC129932463, LOC129932464, LOC129932465, LOC129932466, LOC129932467, LOC129932468, LOC129932469, LOC129932470, LOC129932471, LOC129932472, LOC129932473, LOC129932474, LOC129932475, LOC129932476, LOC129932477, LOC129932478, LOC129932479, LOC129932480, LOC129932481, LOC129932482, LOC129932483, LOC129932484, LOC129932485, LOC129932486, LOC129932487, LOC129932488, LOC129932489, LOC129932490, LOC129932491, LOC129932492, LOC129932493, LOC129932494, LOC129932495, LOC129932496, LOC129932497, LOC129932498, LOC129932499, LOC129932500, LOC129932501, LOC129932502, LOC129932503, LOC129932504, LOC129932505, LOC129932506, LOC129932507, LOC129932508, LOC129932509, LOC129932510, LOC129932511, LOC129932512, LOC129932513, LOC129932514, LOC129932515, LOC129932516, LOC129932517, LOC129932518, LOC129932519, LOC129932520, LOC129932521, LOC129932522, LOC129932523, LOC129932524, LOC129932525, LOC129932526, LOC129932527, LOC129932528, LOC129932529, LOC129932530, LOC129932531, LOC129932532, LOC129932533, LOC129932534, LOC129932535, LOC129932536, LOC129932537, LOC129932538, LOC129932539, LOC129932540, LOC129932541, LOC129932542, LOC129932543, LOC129932544, LOC129932545, LOC129932546, LOC129932547, LOC129932548, LOC129932549, LOC129932550, LOC129932551, LOC129932552, LOC129932553, LOC129932554, LOC129932555, LOC129932556, LOC129932557, LOC129932558, LOC129932559, LOC129932560, LOC129932561, LOC129932562, LOC129932563, LOC129932564, LOC129932565, LOC129932566, LOC129932567, LOC129932568, LOC129932569, LOC129932570, LOC129932571, LOC129932572, LOC129932573, LOC129932574, LOC129932575, LOC129932576, LOC129932577, LOC129932578, LOC129932579, LOC129932580, LOC129932581, LOC129932582, LOC129932583, LOC129932584, LOC129932585, LOC129932586, LOC129932587, LOC129932588, LOC129932589, LOC129932590, LOC129932591, LOC129932592, LOC129932593, LOC129932594, LOC129932595, LOC129932596, LOC129932597, LOC129932598, LOC129932599, LOC129932600, LOC132088616, LOC132088617, LOC132088618, LOC132088619, LOC132088620, LOC132088621, LOC132088622, LOC132088623, LOC132088627, LOC132088628, LOC132088629, LOC132088630, LOC132088631, LOC132088632, LOC132088633, LOC132088634, LOC132088635, LOC132088636, LOC132088637, LOC132088638, LOC132088639, LOC132088640, LOC132088641, LOC132088644, LOC132088646, LOC132088647, LOC132088648, LOC132088649, LOC132088650, LOC132088651, LOC132088652, LOC132088653, LOC132088654, LOC132088656, LOC132088657, LOC132088658, LOC132088659, LOC132088660, LOC132088661, LOC132088662, LOC132088663, LOC132088664, LOC132088666, LOC132088667, LOC132090671, LOC132090672, LOC132090673, LOC132090674, LOC132090675, LOC132090676, LOC132205953, LOC148696, LPGAT1, LPGAT1-AS1, LYPLAL1, LYPLAL1-AS1, LYPLAL1-DT, MAPKAPK2, MARK1, MFSD4A, MFSD4A-AS1, MIA3, MIR135B, MIR194-1, MIR205, MIR205HG, MIR215, MIR29B2, MIR29B2CHG, MIR29C, MIR3122, MIR320B2, MIR4260, MIR4742, MIR664A, MIR6769B, MTARC1, MTARC2, NEK2, NEK2-DT, NENF, NFASC, NSL1, NTRAS, NUAK2, NUCKS1, NVL, PACC1, PFKFB2, PIGR, PLXNA2, PM20D1, PM20D1-AS1, PPP2R5A, PROX1, PROX1-AS1, PTPN14, RAB29, RAB3GAP2, RAB7B, RASSF5, RBBP5, RCOR3, RD3, RHEX, RPS6KC1, RRP15, SERTAD4, SERTAD4-AS1, SLC26A9, SLC26A9-AS1, SLC30A1, SLC30A10, SLC41A1, SLC45A3, SMYD2, SNORA16B, SNORA36B, SPATA17, SPATA17-AS1, SPATA45, SRGAP2, SUSD4, SYT14, TAF1A, TAF1A-AS1, TATDN3, TGFB2, TGFB2-AS1, TGFB2-OT1, TLR5, TMCC2, TMCC2-AS1, TMEM81, TP53BP2, TRAF3IP3, TRAF5, TRK-TTT8-1, TRT-TGT2-1, USH2A, USH2A-AS1, USH2A-AS2, UTP25, VASH2, WDR26, YOD1, ZC3H11B, AIDA, ANGEL2, ATF3, AVPR1B, AVPR1B-DT, BATF3, BLACAT1, BPNT1, BROX, C1orf115, C1orf116, C1orf74, C4BPA, C4BPB, CAMK1G, CAPN2, CAPN8, CCDC185, CD34, CD46, CD55, CDK18, CENPF, CNIH3, CNIH3-AS1, CNIH3-AS2, CNIH4, CNTN2, CR1, CR1L, CR2, CTSE, DEGS1, DISP1, DNAH14, DSTYK, DTL, DUSP10, DYRK3, DYRK3-AS1, EIF2D, ELK4, EPRS1, ESRRG, FAM177B, FAM72A, FBXO28, FCAMR, FCMR, FLVCR1, FLVCR1-DT, G0S2, GARIN4, GPATCH2, HHAT, HHIPL2, HLX, HLX-AS1, HSD11B1, HSD11B1-AS1, IARS2, IKBKE, IKBKE-AS1, IL10, IL19, IL20, IL24, INTS7, IRF6, KCNH1, KCNH1-IT1, KCNK2, KCTD3, KLHDC8A, LAMB3, LBR, LEMD1, LEMD1-AS1, LEMD1-DT, LINC00210, LINC00467, LINC00538, LINC01352, LINC01653, LINC01655, LINC01696, LINC01698, LINC01710, LINC01717, LINC01740, LINC01774, LINC02257, LINC02474, LINC02602, LINC02608, LINC02767, LINC02769, LINC02771, LINC02773, LINC02779, LINC02817, LINC02869, LINC02942, LOC101927143, LOC101927164, LOC103021295, LOC107325941, LOC107325942, LOC110120610, LOC110120807, LOC110121042, LOC110121057, LOC110121257, LOC110121306, LOC111429604, LOC112577532, LOC112577533, LOC112577534, LOC112577535, LOC112577536, LOC112577537, LOC112577538, LOC112577542, LOC112577543, LOC112577544, LOC113939983, LOC113939984, LOC115804244, LOC115804245, LOC115804246, LOC120807609, LOC120807610, LOC120893176, LOC120908903, LOC120908904, LOC120908905, LOC120908906, LOC120908907, LOC120908908, LOC120908909, LOC120908910, LOC121725070, LOC121725071, LOC121725072, LOC121725073, LOC121725074, LOC122094914, LOC122128411, LOC122149352, LOC122149353, LOC122149354, LOC122149355, LOC122149356, LOC122149357, LOC122149358, LOC122149359, LOC122149360, LOC122149361, LOC122149362, LOC122149487, LOC122149488, LOC122149489, LOC122149490, LOC122149491, LOC122149492, LOC122149493, LOC122149494, LOC122149495, LOC122149496, LOC122149497, LOC122152293, LOC122152294, LOC122152295, LOC122152296, LOC122152297, LOC122152298, LOC122152299, LOC122152300, LOC122152301, LOC122152302, LOC122152303, LOC122152304, LOC122152305, LOC122152306, LOC122152307, LOC122152308, LOC126805985, LOC126805986, LOC126805987, LOC126805988, LOC126805989, LOC126805990, LOC126805991, LOC126805992, LOC126805993, LOC126805994, LOC126805995, LOC126805996, LOC126805997, LOC126805998, LOC126805999, LOC126806000, LOC126806001, LOC126806002, LOC126806003, LOC126806004, LOC126806005, LOC126806006, LOC126806007, LOC126806008, LOC126806009, LOC126806010, LOC126806011, LOC126806012, LOC126806013, LOC126806014, LOC126806015, LOC126806016, LOC126806017, LOC126806018, LOC126806019, LOC126806020, LOC126806021, LOC126806022, LOC126806023, LOC126806024, LOC126806025, LOC126806026
See casesPathogenic
(Sep 18, 2013)
no assertion criteria provided
3.
GRCh37:
Chr1:207519987-249224684
GRCh38:
Chr1:207346642-248930485
LOC129932406, LOC129932407, LOC129932408, LOC129932409, LOC129932410, LOC129932411, LOC129932412, LOC129932413, LOC129932414, LOC129932415, LOC129932416, LOC129932417, LOC129932418, LOC129932419, LOC129932420, LOC129932421, LOC129932422, LOC129932423, LOC129932424, LOC129932425, LOC129932426, LOC129932427, LOC129932428, LOC129932429, LOC129932430, LOC129932431, LOC129932432, LOC129932433, LOC129932434, LOC129932435, LOC129932436, LOC129932437, LOC129932438, LOC129932439, LOC129932440, LOC129932441, LOC129932442, LOC129932443, LOC129932444, LOC129932445, LOC129932446, LOC129932447, LOC129932448, LOC129932449, LOC129932450, LOC129932451, LOC129932452, LOC129932453, LOC129932454, LOC129932455, LOC129932456, LOC129932457, LOC129932458, LOC129932459, LOC129932460, LOC129932461, LOC129932462, LOC129932463, LOC129932464, LOC129932465, LOC129932466, LOC129932467, LOC129932468, LOC129932469, LOC129932470, LOC129932471, LOC129932472, LOC129932473, LOC129932474, LOC129932475, LOC129932476, LOC129932477, LOC129932478, LOC129932479, LOC129932480, LOC129932481, LOC129932482, LOC129932483, LOC129932484, LOC129932485, LOC129932486, LOC129932487, LOC129932488, LOC129932489, LOC129932490, LOC129932491, LOC129932492, LOC129932493, LOC129932494, LOC129932495, LOC129932496, LOC129932497, LOC129932498, LOC129932499, LOC129932500, LOC129932501, LOC129932502, LOC129932503, LOC129932504, LOC129932505, LOC129932506, LOC129932507, LOC129932508, LOC129932509, LOC129932510, LOC129932511, LOC129932512, LOC129932513, LOC129932514, LOC129932515, LOC129932516, LOC129932517, LOC129932518, LOC129932519, LOC129932520, LOC129932521, LOC129932522, LOC129932523, LOC129932524, LOC129932525, LOC129932526, LOC129932527, LOC129932528, LOC129932529, LOC129932530, LOC129932531, LOC129932532, LOC129932533, LOC129932534, LOC129932535, LOC129932536, LOC129932537, LOC129932538, LOC129932539, LOC129932540, LOC129932541, LOC129932542, LOC129932543, LOC129932544, LOC129932545, LOC129932546, LOC129932547, LOC129932548, LOC129932549, LOC129932550, LOC129932551, LOC129932552, LOC129932553, LOC129932554, LOC129932555, LOC129932556, LOC129932557, LOC129932558, LOC129932559, LOC129932560, LOC129932561, LOC129932562, LOC129932563, LOC129932564, LOC129932565, LOC129932566, LOC129932567, LOC129932568, LOC129932569, LOC129932570, LOC129932571, LOC129932572, LOC129932573, LOC129932574, LOC129932575, LOC129932576, LOC129932577, LOC129932578, LOC129932579, LOC129932580, LOC129932581, LOC129932582, LOC129932583, LOC129932584, LOC129932585, LOC129932586, LOC129932587, LOC129932588, LOC129932589, LOC129932590, LOC129932591, LOC129932592, LOC129932593, LOC129932594, LOC129932595, LOC129932596, LOC129932597, LOC129932598, LOC129932599, LOC129932600, LOC129932601, LOC129932602, LOC129932603, LOC129932604, LOC129932605, LOC129932606, LOC129932607, LOC129932608, LOC129932609, LOC129932610, LOC129932611, LOC129932612, LOC129932613, LOC129932614, LOC129932615, LOC129932616, LOC129932617, LOC129932618, LOC129932619, LOC129932620, LOC129932621, LOC129932622, LOC129932623, LOC129932624, LOC129932625, LOC129932626, LOC129932627, LOC129932628, LOC129932629, LOC129932630, LOC129932631, LOC129932632, LOC129932633, LOC129932634, LOC129932635, LOC129932636, LOC129932637, LOC129932638, LOC129932639, LOC129932640, LOC129932641, LOC129932642, LOC129932643, LOC129932644, LOC129932645, LOC129932646, LOC129932647, LOC129932648, LOC129932649, LOC129932650, LOC129932651, LOC129932652, LOC129932653, LOC129932654, LOC129932655, LOC129932656, LOC129932657, LOC129932658, LOC129932659, LOC129932660, LOC129932661, LOC129932662, LOC129932663, LOC129932664, LOC129932665, LOC129932666, LOC129932667, LOC129932668, LOC129932669, LOC129932670, LOC129932671, LOC129932672, LOC129932673, LOC129932674, LOC129932675, LOC129932676, LOC129932677, LOC129932678, LOC129932679, LOC129932680, LOC129932681, LOC129932682, LOC129932683, LOC129932684, LOC129932685, LOC129932686, LOC129932687, LOC129932688, LOC129932689, LOC129932690, LOC129932691, LOC129932692, LOC129932693, LOC129932694, LOC129932695, LOC129932696, LOC129932697, LOC129932698, LOC129932699, LOC129932700, LOC129932701, LOC129932702, LOC129932703, LOC129932704, LOC129932705, LOC129932706, LOC129932707, LOC129932708, LOC129932709, LOC129932710, LOC129932711, LOC129932712, LOC129932713, LOC129932714, LOC129932715, LOC129932716, LOC129932717, LOC129932718, LOC129932719, LOC129932720, LOC129932721, LOC129932722, LOC129932723, LOC129932724, LOC129932725, LOC129932726, LOC129932727, LOC129932728, LOC129932729, LOC129932730, LOC129932731, LOC129932732, LOC129932733, LOC129932734, LOC129932735, LOC129932736, LOC129932737, LOC129932738, LOC129932739, LOC129932740, LOC129932741, LOC129932742, LOC129932743, LOC129932744, LOC129932745, LOC129932746, LOC129932747, LOC129932748, LOC129932749, LOC129932750, LOC129932751, LOC129932752, LOC129932753, LOC129932754, LOC129932755, LOC129932756, LOC129932757, LOC129932758, LOC129932759, LOC129932760, LOC129932761, LOC129932762, LOC129932763, LOC129932764, LOC129932765, LOC129932766, LOC129932767, LOC129932768, LOC129932769, LOC129932770, LOC129932771, LOC129932772, LOC129932773, LOC129932774, LOC129932775, LOC129932776, LOC129932777, LOC129932778, LOC129932779, LOC129932780, LOC129932781, LOC129932782, LOC129932783, LOC129932784, LOC129932785, LOC129932786, LOC129932787, LOC129932788, LOC129932789, LOC129932790, LOC129932791, LOC129932792, LOC129932793, LOC129932794, LOC129932795, LOC129932796, LOC129932797, LOC129932798, LOC129932799, LOC129932800, LOC129932801, LOC129932802, LOC129932803, LOC129932804, LOC129932805, LOC129932806, LOC129932807, LOC129932808, LOC129932809, LOC129932810, LOC129932811, LOC129932812, LOC129932813, LOC129932814, LOC129932815, LOC129932816, LOC129932817, LOC129932818, LOC129932819, LOC129932820, LOC129932821, LOC129932822, LOC129932823, LOC129932824, LOC129932825, LOC129932826, LOC129932827, LOC129932828, LOC129932829, LOC129932830, LOC129932831, LOC129932832, LOC129932833, LOC129932834, LOC129932835, LOC129932836, LOC129932837, LOC129932838, LOC129932839, LOC129932840, LOC129932841, LOC129932842, LOC129932843, LOC129932844, LOC129932845, LOC129932846, LOC129932847, LOC129932848, LOC129932849, LOC129932850, LOC129932851, LOC129932852, LOC129932853, LOC129932854, LOC129932855, LOC129932856, LOC129932857, LOC129932858, LOC129932859, LOC129932860, LOC129932861, LOC129932862, LOC129932863, LOC129932864, LOC129932865, LOC129932866, LOC129932867, LOC129932868, LOC129932869, LOC129932870, LOC129932871, LOC129932872, LOC129932873, LOC129932874, LOC129932875, LOC129932876, LOC129932877, LOC129932878, LOC129932879, LOC129932880, LOC129932881, LOC129932882, LOC129932883, LOC129932884, LOC129932885, LOC129932886, LOC129932887, LOC129932888, LOC129932889, LOC129932890, LOC129932891, LOC129932892, LOC129932893, LOC129932894, LOC129932895, LOC129932896, LOC129932897, LOC129932898, LOC129932899, LOC129932900, LOC129932901, LOC129932902, LOC129932903, LOC129932904, LOC129932905, LOC129932906, LOC129932907, LOC129932908, LOC129932909, LOC129932910, LOC129932911, LOC129932912, LOC129932913, LOC129932914, LOC129932915, LOC129932916, LOC129932917, LOC129932918, LOC129932919, LOC129932920, LOC129932921, LOC129932922, LOC129932923, LOC129932924, LOC129932925, CD46, CD55, CDC42BPA, CENPF, CEP170, CHML, CHRM3, CHRM3-AS1, CHRM3-AS2, CNIH3, CNIH3-AS1, CNIH3-AS2, CNIH4, CNST, COA6, COA6-AS1, COG2, COQ8A, COX20, CR1, CR1L, CR2, DEGS1, DESI2, DISC1, DISC1-IT1, DISC2, DISP1, DNAH14, DTL, DUSP10, EDARADD, EFCAB2, EGLN1, ENAH, EPHX1, EPRS1, ERO1B, ESRRG, EXO1, EXOC8, FAM177B, FAM89A, FBXO28, FH, FLJ39095, FLVCR1, FLVCR1-DT, FMN2, G0S2, GALNT2, GARIN4, GCSAML, GCSAML-AS1, GGPS1, GJC2, GNG4, GNPAT, GPATCH2, GPR137B, GREM2, GUK1, H2AC25, H2BC26, H3-3A, H3-3A-DT, H3-4, HEATR1, HHAT, HHIPL2, HLX, HLX-AS1, HNRNPU, HSD11B1, HSD11B1-AS1, IARS2, IBA57, IBA57-DT, INTS7, IRF2BP2, IRF6, ITPKB, ITPKB-IT1, JMJD4, KCNH1, KCNH1-IT1, KCNK1, KCNK2, KCTD3, KIF26B, KIF26B-AS1, KMO, LAMB3, LBR, LEFTY1, LEFTY2, LGALS8, LGALS8-AS1, LIN9, LINC00184, LINC00210, LINC00467, LINC00538, LINC00582, LINC01132, LINC01139, LINC01341, LINC01347, LINC01348, LINC01352, LINC01354, LINC01641, LINC01653, LINC01655, LINC01682, LINC01696, LINC01698, LINC01703, LINC01710, LINC01717, LINC01736, LINC01737, LINC01740, LINC01743, LINC01744, LINC01745, LINC01774, LINC02257, LINC02474, LINC02602, LINC02608, LINC02765, LINC02767, LINC02768, LINC02769, LINC02771, LINC02773, LINC02774, LINC02779, LINC02809, LINC02815, LINC02817, LINC02869, LINC02897, LINC02961, LINC02971, LINC03108, LNCATV, LOC100506929, LOC101927143, LOC101927164, LOC101927604, LOC101927787, LOC101928068, LOC102724446, LOC105373209, LOC105373289, LOC107325941, LOC107325942, LOC107546745, LOC107546746, LOC107546747, LOC107546778, LOC107546780, LOC107548103, LOC107985355, LOC108004528, LOC110120610, LOC110120698, LOC110120807, LOC110121042, LOC110121057, LOC110121205, LOC110121251, LOC110121257, LOC110121263, LOC110121264, LOC110121265, LOC110121266, LOC110121306, LOC110121307, LOC111365197, LOC111365208, LOC111429604, LOC111828504, LOC112577533, LOC112577534, LOC112577535, LOC112577536, LOC112577537, LOC112577538, LOC112577542, LOC112577543, LOC112577544, LOC112577545, LOC112577546, LOC112577547, LOC112577548, LOC112577552, LOC112577554, LOC112577555, LOC112577556, LOC112577557, LOC112577558, LOC112577559, LOC112577560, LOC112577561, LOC112577565, LOC112577566, LOC112577567, LOC112577568, LOC112577569, LOC113939983, LOC113939984, LOC113939987, LOC115804244, LOC115804245, LOC115804246, LOC115804247, LOC115804248, LOC115804249, LOC115804250, LOC115804251, LOC115804252, LOC115804253, LOC115804254, LOC115804255, LOC115804256, LOC120807606, LOC120807610, LOC120908903, LOC120908904, LOC120908905, LOC120908906, LOC120908907, LOC120908908, LOC120908909, LOC120908910, LOC120908911, LOC120908912, LOC120908913, LOC120908914, LOC120908915, LOC120908916, LOC120908917, LOC120908918, LOC120908919, LOC120908920, LOC120908921, LOC120908922, LOC120908923, LOC120947224, LOC121725072, LOC121725073, LOC121725074, LOC121725075, LOC121725076, LOC122149487, LOC122149488, LOC122149489, LOC122149490, LOC122149491, LOC122149492, LOC122149493, LOC122149494, LOC122149495, LOC122149496, LOC122149497, LOC122152293, LOC122152294, LOC122152295, LOC122152296, LOC122152297, LOC122152298, LOC122152299, LOC122152300, LOC122152301, LOC122152302, LOC122152303, LOC122152304, LOC122152305, LOC122152306, LOC122152307, LOC122152308, LOC122152309, LOC122152310, LOC122152311, LOC122152312, LOC122152313, LOC122152314, LOC122152315, LOC122152316, LOC122152317, LOC122152318, LOC122152319, LOC122152320, LOC122152321, LOC122152322, LOC122152332, LOC122152333, LOC122152334, LOC122152335, LOC122152336, LOC122152337, LOC122152338, LOC122152339, LOC122152340, LOC122152341, LOC122152342, LOC122152343, LOC122152344, LOC122152345, LOC122152346, LOC122152347, LOC122152348, LOC122152349, LOC122152350, LOC122152351, LOC122152352, LOC122152353, LOC122152354, LOC122152355, LOC122152356, LOC122152357, LOC122152358, LOC122152359, LOC122152360, LOC122152361, LOC122152362, LOC122526782, LOC126264117, LOC126805994, LOC126805995, LOC126805996, LOC126805997, LOC126805998, LOC126805999, LOC126806000, LOC126806001, LOC126806002, LOC126806003, LOC126806004, LOC126806005, LOC126806006, LOC126806007, LOC126806008, LOC126806009, LOC126806010, LOC126806011, LOC126806012, LOC126806013, LOC126806014, LOC126806015, LOC126806016, LOC126806017, LOC126806018, LOC126806019, LOC126806020, LOC126806021, LOC126806022, LOC126806023, LOC126806024, LOC126806025, LOC126806026, LOC126806027, LOC126806028, LOC126806029, LOC126806030, LOC126806031, LOC126806032, LOC126806033, LOC126806034, LOC126806035, LOC126806036, LOC126806037, LOC126806038, LOC126806039, LOC126806040, LOC126806041, LOC126806042, LOC126806043, LOC126806044, LOC126806045, LOC126806046, LOC126806047, LOC126806048, LOC126806049, LOC126806050, LOC126806051, LOC126806052, LOC126806053, LOC126806054, LOC126806055, LOC126806056, LOC126806057, LOC126806058, LOC126806059, LOC126806060, LOC126806061, LOC126806062, LOC126806063, LOC126806064, LOC126806065, LOC126806066, LOC126806067, LOC126806068, LOC126806069, LOC126806070, LOC126806071, LOC126806072, LOC126806073, LOC126806074, LOC126806075, LOC126806076, LOC126806077, LOC126806078, LOC126806079, LOC126806080, LOC126806081, LOC126806082, LOC126806083, LOC126806084, LOC126806085, LOC126806086, LOC126806087, LOC126806088, LOC126806089, LOC126806090, LOC128598893, LOC128598894, LOC128635606, LOC128635607, LOC128772240, LOC128772241, LOC128772242, LOC128772243, LOC128772244, LOC128772245, LOC129388733, LOC129388734, LOC129388735, LOC129388736, LOC129388737, LOC129388738, LOC129388739, LOC129388740, LOC129388741, LOC129388742, LOC129388743, LOC129388744, LOC129388745, LOC129388746, LOC129388747, LOC129388748, LOC129388749, LOC129388750, LOC129388751, LOC129388752, LOC129388753, LOC129388754, LOC129388755, LOC129388756, LOC129388757, LOC129388758, LOC129388759, LOC129388760, LOC129388761, LOC129388762, LOC129388763, LOC129388764, LOC129388765, LOC129388766, LOC129388767, LOC129388768, LOC129388769, LOC129388770, LOC129388771, LOC129388772, LOC129388773, LOC129388774, LOC129388775, LOC129388776, LOC129388777, LOC129388778, LOC129388779, LOC129388780, LOC129388781, LOC129388782, LOC129388783, LOC129388784, LOC129388785, LOC129388786, LOC129388787, LOC129388788, LOC129388789, LOC129388790, LOC129388791, LOC129388792, LOC129388793, LOC129388794, LOC129388795, LOC129388796, LOC129388797, LOC129388798, LOC129388799, LOC129388800, LOC129388801, LOC129388802, LOC129388803, LOC129388804, LOC129388805, LOC129388806, LOC129388807, LOC129388808, LOC129388809, LOC129388810, LOC129388811, LOC129388812, LOC129388813, LOC129869688, LOC129929020, LOC129932398, LOC129932399, LOC129932400, LOC129932401, LOC129932402, LOC129932403, LOC129932404, LOC129932405, ABCB10, ACBD3, ACBD3-AS1, ACTA1, ACTN2, ADSS2, AGT, AHCTF1, AIDA, AKT3, AKT3-IT1, ANGEL2, ARF1, ARID4B, ARV1, ATF3, B3GALNT2, BATF3, BECN2, BPNT1, BROX, BTNL10, C1orf115, C1orf131, C1orf198, C1orf202, C1orf35, C1orf74, CAMK1G, CAPN2, CAPN8, CAPN9, CATSPERE, CCDC185, CCSAP, CD34, LOC129932926, LOC129932927, LOC129932928, LOC129932929, LOC129932930, LOC129932931, LOC129932932, LOC129932933, LOC129932934, LOC129932935, LOC129932936, LOC129932937, LOC129932938, LOC129932939, LOC129932940, LOC129932941, LOC129932942, LOC129932943, LOC129932944, LOC129932945, LOC129932946, LOC129932947, LOC129932948, LOC129932949, LOC129932950, LOC129932951, LOC129932952, LOC129932953, LOC129932954, LOC129932955, LOC129932956, LOC129932957, LOC129932958, LOC129932959, LOC129932960, LOC129932961, LOC129932962, LOC129932963, LOC129932964, LOC129932965, LOC129932966, LOC129932967, LOC129932968, LOC129932969, LOC129932970, LOC129932971, LOC129932972, LOC132088616, LOC132088617, LOC132088618, LOC132088619, LOC132088620, LOC132088621, LOC132088622, LOC132088623, LOC132088627, LOC132088628, LOC132088629, LOC132088630, LOC132088631, LOC132088632, LOC132088633, LOC132088634, LOC132088635, LOC132088636, LOC132088637, LOC132088638, LOC132088639, LOC132088640, LOC132088641, LOC132088644, LOC132088646, LOC132088647, LOC132088648, LOC132088649, LOC132088650, LOC132088651, LOC132088652, LOC132088653, LOC132088654, LOC132088656, LOC132088657, LOC132088658, LOC132088659, LOC132088660, LOC132088661, LOC132088662, LOC132088663, LOC132088664, LOC132088666, LOC132088667, LOC132088670, LOC132088671, LOC132088673, LOC132088674, LOC132088676, LOC132088677, LOC132088678, LOC132088679, LOC132088680, LOC132088681, LOC132088683, LOC132088684, LOC132088685, LOC132088686, LOC132090672, LOC132090673, LOC132090674, LOC132090675, LOC132090676, LOC132090677, LOC132205953, LOC148696, LOC440742, LPGAT1, LPGAT1-AS1, LYPD8, LYPLAL1, LYPLAL1-AS1, LYPLAL1-DT, LYST, MAP10, MAP1LC3C, MAP3K21, MARK1, MIA3, MIR1182, MIR1537, MIR194-1, MIR205, MIR205HG, MIR215, MIR29B2, MIR29B2CHG, MIR29C, MIR3122, MIR3123, MIR3124, MIR320B2, MIR3620, MIR3916, MIR4260, MIR4427, MIR4428, MIR4666A, MIR4671, MIR4677, MIR4742, MIR4753, MIR5008, MIR664A, MIR6741, MIR6742, MIXL1, MRPL55, MT1HL1, MTARC1, MTARC2, MTR, NEK2, NEK2-DT, NENF, NID1, NLRP3, NSL1, NTPCR, NTRAS, NUP133, NUP133-DT, NVL, OBSCN, OBSCN-AS1, OPN3, OR11L1, OR13G1, OR14A16, OR14A2, OR14C36, OR14I1, OR14K1, OR14L1, OR1C1, OR2AJ1, OR2AK2, OR2B11, OR2C3, OR2G2, OR2G3, OR2G6, OR2L13, OR2L2, OR2L3, OR2L5, OR2L8, OR2M2, OR2M3, OR2M4, OR2M5, OR2M7, OR2T1, OR2T10, OR2T11, OR2T12, OR2T2, OR2T27, OR2T29, OR2T3, OR2T33, OR2T34, OR2T35, OR2T4, OR2T5, OR2T6, OR2T7, OR2T8, OR2W3, OR6F1, OR9H1P, PACC1, PARP1, PCNX2, PGBD2, PGBD5, PLD5, PLXNA2, PPP2R5A, PROX1, PROX1-AS1, PRSS38, PSEN2, PTPN14, PYCR2, RAB3GAP2, RAB4A, RAB4A-AS1, RBM34, RCOR3, RD3, RGS7, RHOU, RNA5S1, RNA5S10, RNA5S11, RNA5S12, RNA5S13, RNA5S14, RNA5S15, RNA5S16, RNA5S17, RNA5S2, RNA5S3, RNA5S4, RNA5S5, RNA5S6, RNA5S7, RNA5S8, RNA5S9, RNF187, RPS6KC1, RRP15, RYR2, SCCPDH, SDCCAG8, SDE2, SERTAD4, SERTAD4-AS1, SH3BP5L, SIPA1L2, SLC30A1, SLC30A10, SLC35F3, SLC35F3-AS1, SMYD2, SMYD3, SMYD3-AS1, SNAP47, SNORA100, SNORA14B, SNORA16B, SNORA36B, SPATA17, SPATA17-AS1, SPATA45, SPHAR, SPMIP3, SPRTN, SRP9, STUM, SUSD4, SYT14, TAF1A, TAF1A-AS1, TAF5L, TARBP1, TATDN3, TBCE, TFB2M, TGFB2, TGFB2-AS1, TGFB2-OT1, TLR5, TMEM63A, TMEM78, TOMM20, TP53BP2, TRAF3IP3, TRAF5, TRE-CTC2-1, TRIM11, TRIM17, TRIM58, TRIM67, TRIM67-AS1, TRL-CAA4-1, TRT-TGT2-1, TSNAX, TSNAX-DISC1, TTC13, URB2, USH2A, USH2A-AS1, USH2A-AS2, UTP25, VASH2, VN1R5, WDR26, WDR64, WNT3A, WNT9A, ZBTB18, ZC3H11B, ZNF124, ZNF496, ZNF496-DT, ZNF669, ZNF670, ZNF670-ZNF695, ZNF672, ZNF678, ZNF692, ZNF692-DT, ZNF695, ZP4
See casesPathogenic
(Mar 10, 2014)
no assertion criteria provided
4.
GRCh37:
Chr1:207756872-210332526
GRCh38:
Chr1:207583527-210159181
See casesPathogenic
(Jun 25, 2012)
no assertion criteria provided
5.
GRCh38:
Chr1:208430918-228938006
LOC126806029, LOC129932471, LOC129932479, LOC129932480, LOC129932481, LOC129932483, LOC129932484, LOC129932485, LOC129932477, LOC129932478, LOC129932482, LOC129932486, LOC129932472, LOC129932473, LOC129932474, LOC129932475, LOC129932476, LOC126806030, LOC126806031, LOC126806032, LOC126806033, LOC126806034, LOC126806035, LOC126806036, LOC126806037, LOC126806038, LOC126806039, LOC128772240, LOC128772244, LOC128772245, LOC128772241, LOC128772242, LOC128772243, LOC126805997, LOC126805998, LOC126805999, LOC126806000, LOC126806001, LOC126806002, LOC126806003, LOC126806004, LOC126806005, LOC126806006, LOC126806007, LOC126806008, LOC126806009, LOC126806010, LOC126806011, LOC126806012, LOC126806013, LOC126806014, LOC126806015, LOC126806016, LOC126806017, LOC126806018, LOC126806019, LOC126806020, LOC126806021, LOC126806022, LOC126806023, LOC126806024, LOC126806025, LOC126806026, LOC126806027, LOC126806028, LOC129388734, LOC129388735, LOC129388736, LOC129388737, LOC129388738, LOC129388739, LOC129388740, LOC129388741, LOC129388742, LOC129388743, LOC129388744, LOC129388745, LOC129388746, LOC129388747, LOC129388748, LOC129388749, LOC129388750, LOC129388751, LOC129388752, LOC129388753, LOC129388754, LOC129388755, LOC129388756, LOC129388757, LOC129388758, LOC129388759, LOC129388760, LOC129388761, LOC129388762, LOC129388763, LOC129388764, LOC129388765, LOC129388766, LOC129388767, LOC129388768, LOC129388769, LOC129388770, LOC129388771, LOC129932422, LOC129932423, LOC129932424, LOC129932425, LOC129932426, LOC129932427, LOC129932428, LOC129932429, LOC129932430, LOC129932431, LOC129932432, LOC129932433, LOC129932434, LOC129932435, LOC129932436, LOC129932437, LOC129932438, LOC129932439, LOC129932440, LOC129932441, LOC129932442, LOC129932443, LOC129932444, LOC129932445, LOC129932446, LOC129932447, LOC129932448, LOC129932449, LOC129932450, LOC129932451, LOC129932452, LOC129932453, LOC129932454, LOC129932455, LOC129932456, LOC129932457, LOC129932458, LOC129932459, LOC129932460, LOC129932461, LOC129932462, LOC129932463, LOC129932464, LOC129932465, LOC129932466, LOC129932467, LOC129932468, LOC129932469, LOC129932470, LOC129932487, LOC129932488, LOC129932489, LOC129932490, LOC129932491, LOC129932492, LOC129932493, LOC129932494, LOC129932495, LOC129932496, LOC129932497, LOC129932498, LOC129932499, LOC129932500, LOC129932501, LOC129932502, LOC129932503, LOC129932504, LOC129932505, LOC129932506, LOC129932507, LOC129932508, LOC129932509, LOC129932510, LOC129932511, LOC129932512, LOC129932513, LOC129932514, LOC129932515, LOC129932516, LOC129932517, LOC129932518, LOC129932519, LOC129932520, LOC129932521, LOC129932522, LOC129932523, LOC129932524, LOC129932525, LOC129932526, LOC129932527, LOC129932528, LOC129932529, LOC129932530, LOC129932531, LOC129932532, LOC129932533, LOC129932534, LOC129932535, LOC129932536, LOC129932537, LOC129932538, LOC129932539, LOC129932540, LOC129932541, LOC129932542, LOC129932543, LOC129932544, LOC129932545, LOC129932546, LOC129932547, LOC129932548, LOC129932549, LOC129932550, LOC129932551, LOC129932552, LOC129932553, LOC129932554, LOC129932555, LOC129932556, LOC129932557, LOC129932558, LOC129932559, LOC129932560, LOC129932561, LOC129932562, LOC129932563, LOC129932564, LOC129932565, LOC129932566, LOC129932567, LOC129932568, LOC129932569, LOC129932570, LOC129932571, LOC129932572, LOC129932573, LOC129932574, LOC129932575, LOC129932576, LOC129932577, LOC129932578, LOC129932579, LOC129932580, LOC129932581, LOC129932582, LOC129932583, LOC129932584, LOC129932585, LOC129932586, LOC129932587, LOC129932588, LOC129932589, LOC129932590, LOC129932591, LOC129932592, LOC129932593, LOC129932594, LOC129932595, LOC129932596, LOC129932597, LOC129932598, LOC129932599, LOC129932600, LOC129932601, LOC129932602, LOC129932603, LOC129932604, LOC129932605, LOC129932606, LOC129932607, LOC129932608, LOC129932609, LOC129932610, LOC129932611, LOC129932612, LOC129932613, LOC129932614, LOC129932615, LOC129932616, LOC129932617, LOC129932618, LOC129932619, LOC129932620, LOC129932621, LOC129932622, LOC129932623, LOC129932624, LOC129932625, LOC129932626, LOC129932627, LOC129932628, LOC129932629, LOC129932630, LOC129932631, LOC129932632, LOC129932633, LOC129932634, LOC129932635, LOC129932636, LOC129932637, LOC129932638, LOC129932639, LOC129932640, LOC129932641, LOC129932642, LOC129932643, LOC129932644, LOC129932645, LOC129932646, LOC129932647, LOC129932648, LOC129932649, LOC129932650, LOC129932651, LOC129932652, LOC129932653, LOC129932654, LOC129932655, LOC129932656, LOC129932657, LOC129932658, LOC129932659, LOC129932660, LOC129932661, LOC129932662, LOC129932663, LOC129932664, LOC129932665, LOC129932666, LOC129932667, LOC129932668, LOC129932669, LOC129932670, LOC129932671, LOC129932672, LOC129932673, LOC129932674, LOC129932675, LOC129932676, LOC129932677, LOC129932678, LOC129932679, LOC129932680, LOC129932681, LOC129932682, LOC129932683, LOC129932684, LOC129932685, LOC129932686, LOC129932687, LOC129932688, LOC129932689, LOC129932690, LOC129932691, LOC129932692, LOC129932693, LOC129932694, LOC129932695, LOC129932696, LOC129932697, LOC129932698, LOC129932699, LOC129932700, LOC129932701, LOC129932702, LOC129932703, LOC129932704, LOC129932705, LOC129932706, LOC129932707, LOC129932708, LOC129932709, LOC129932710, LOC129932711, LOC129932712, LOC129932713, LOC129932714, LOC129932715, LOC129932716, LOC129932717, LOC129932718, LOC129932719, LOC129932720, LOC129932721, LOC129932722, LOC129932723, LOC132088617, LOC132088618, LOC132088619, LOC132088620, LOC132088621, LOC132088622, LOC132088623, LOC132088627, LOC132088628, LOC132088629, LOC132088630, LOC132088631, LOC132088632, LOC132088633, LOC132088634, LOC132088635, LOC132088636, LOC132088637, LOC132088638, LOC132088639, LOC132088640, LOC132088641, LOC132088644, LOC132088646, LOC132088647, LOC132088648, LOC132088649, LOC132088650, LOC132088651, LOC132088652, LOC132088653, LOC132088654, LOC132088656, LOC132088657, LOC132088658, LOC132088659, LOC132088660, LOC132088661, LOC132088662, LOC132088663, LOC132088664, LOC132088666, LOC132088667, LOC132088670, LOC132088671, LOC132088673, LOC132088674, LOC132090673, LOC132090674, LOC132090675, LOC132090676, LOC132205953, LPGAT1, LPGAT1-AS1, LYPLAL1, LYPLAL1-AS1, LYPLAL1-DT, MARK1, MIA3, MIR194-1, MIR205, MIR205HG, MIR215, MIR3122, MIR320B2, MIR3620, MIR4260, MIR4666A, MIR4742, MIR5008, MIR664A, MIR6741, MIR6742, MIXL1, MRPL55, MTARC1, MTARC2, NEK2, NEK2-DT, NENF, NSL1, NTRAS, NVL, OBSCN, OBSCN-AS1, PACC1, PARP1, PPP2R5A, PROX1, PROX1-AS1, PRSS38, PSEN2, PTPN14, PYCR2, RAB3GAP2, RCOR3, RD3, RHOU, RNA5S1, RNA5S10, RNA5S11, RNA5S12, RNA5S13, RNA5S14, RNA5S15, RNA5S16, RNA5S17, RNA5S2, RNA5S3, RNA5S4, RNA5S5, RNA5S6, RNA5S7, RNA5S8, RNA5S9, RNF187, RPS6KC1, RRP15, SDE2, SERTAD4, SERTAD4-AS1, SLC30A1, SLC30A10, SMYD2, SNAP47, SNORA16B, SNORA36B, SPATA17, SPATA17-AS1, SPATA45, SRP9, STUM, SUSD4, SYT14, TAF1A, TAF1A-AS1, TATDN3, TGFB2, TGFB2-AS1, TGFB2-OT1, TLR5, TMEM63A, TP53BP2, TRAF3IP3, TRAF5, TRIM11, TRIM17, TRT-TGT2-1, USH2A, USH2A-AS1, USH2A-AS2, UTP25, VASH2, WDR26, WNT3A, WNT9A, ZC3H11B, ZNF678, ACBD3, ACBD3-AS1, AIDA, ANGEL2, ARF1, ATF3, BATF3, BPNT1, BROX, BTNL10, C1orf115, C1orf35, C1orf74, CAMK1G, CAPN2, CAPN8, CCDC185, CDC42BPA, CENPF, CNIH3, CNIH3-AS1, CNIH3-AS2, CNIH4, COQ8A, DEGS1, DISP1, DNAH14, DTL, DUSP10, ENAH, EPHX1, EPRS1, ESRRG, FAM177B, FBXO28, FLVCR1, FLVCR1-DT, G0S2, GARIN4, GJC2, GPATCH2, GUK1, H2AC25, H2BC26, H3-3A, H3-3A-DT, H3-4, HHAT, HHIPL2, HLX, HLX-AS1, HSD11B1, HSD11B1-AS1, IARS2, IBA57, IBA57-DT, INTS7, IRF6, ITPKB, ITPKB-IT1, JMJD4, KCNH1, KCNH1-IT1, KCNK2, KCTD3, LAMB3, LBR, LEFTY1, LEFTY2, LIN9, LINC00210, LINC00467, LINC00538, LINC01352, LINC01641, LINC01653, LINC01655, LINC01696, LINC01698, LINC01703, LINC01710, LINC01717, LINC01740, LINC01774, LINC02257, LINC02474, LINC02602, LINC02608, LINC02765, LINC02769, LINC02771, LINC02773, LINC02779, LINC02809, LINC02817, LINC02869, LOC101927143, LOC101927164, LOC105373289, LOC107325941, LOC107325942, LOC107985355, LOC110120610, LOC110120807, LOC110121042, LOC110121057, LOC110121257, LOC110121306, LOC110121307, LOC111429604, LOC112577535, LOC112577536, LOC112577537, LOC112577538, LOC112577542, LOC112577543, LOC112577544, LOC112577545, LOC112577546, LOC112577547, LOC112577548, LOC113939983, LOC113939984, LOC115804245, LOC115804246, LOC115804247, LOC115804248, LOC120807606, LOC120807610, LOC120908903, LOC120908904, LOC120908905, LOC120908906, LOC120908907, LOC120908908, LOC120908909, LOC120908910, LOC120908911, LOC121725072, LOC121725073, LOC121725074, LOC121725075, LOC122149491, LOC122149492, LOC122149493, LOC122149494, LOC122149495, LOC122149496, LOC122149497, LOC122152293, LOC122152294, LOC122152295, LOC122152296, LOC122152297, LOC122152298, LOC122152299, LOC122152300, LOC122152301, LOC122152302, LOC122152303, LOC122152304, LOC122152305, LOC122152306, LOC122152307, LOC122152308, LOC122152309, LOC122152310, LOC122152311, LOC122152312, LOC122152313, LOC122152314, LOC122152315, LOC122152316, LOC122152317, LOC126805996
Orofacial cleft 2associationno assertion criteria provided
6.
GRCh37:
Chr1:209788213
GRCh38:
Chr1:209614868
LAMB3Junctional epidermolysis bullosaBenign
(Jun 14, 2016)
criteria provided, single submitter
7.
GRCh37:
Chr1:209788214
GRCh38:
Chr1:209614869
LAMB3Junctional epidermolysis bullosaLikely benign
(Jun 14, 2016)
criteria provided, single submitter
8.
GRCh37:
Chr1:209788224
GRCh38:
Chr1:209614879
LAMB3Junctional epidermolysis bullosaUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
9.
GRCh37:
Chr1:209788337
GRCh38:
Chr1:209614992
LAMB3Junctional epidermolysis bullosaUncertain significance
(Jan 12, 2018)
criteria provided, single submitter
10.
GRCh37:
Chr1:209788341
GRCh38:
Chr1:209614996
LAMB3Junctional epidermolysis bullosaUncertain significance
(Jan 12, 2018)
criteria provided, single submitter
11.
GRCh37:
Chr1:209788354
GRCh38:
Chr1:209615009
LAMB3Junctional epidermolysis bullosaLikely benign
(Jan 12, 2018)
criteria provided, single submitter
12.
GRCh37:
Chr1:209788392
GRCh38:
Chr1:209615047
LAMB3Junctional epidermolysis bullosaUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
13.
GRCh37:
Chr1:209788479
GRCh38:
Chr1:209615134
LAMB3Junctional epidermolysis bullosaLikely benign
(Jan 13, 2018)
criteria provided, single submitter
14.
GRCh37:
Chr1:209788484
GRCh38:
Chr1:209615139
LAMB3Junctional epidermolysis bullosaUncertain significance
(Jan 12, 2018)
criteria provided, single submitter
15.
GRCh37:
Chr1:209788492
GRCh38:
Chr1:209615147
LAMB3Junctional epidermolysis bullosaUncertain significance
(Apr 27, 2017)
criteria provided, single submitter
16.
GRCh37:
Chr1:209788514
GRCh38:
Chr1:209615169
LAMB3Junctional epidermolysis bullosa, non-Herlitz type, Amelogenesis imperfecta type 1A, not provided,
Junctional epidermolysis bullosa, Junctional epidermolysis bullosa gravis of Herlitz
Benign
(Nov 4, 2022)
criteria provided, multiple submitters, no conflicts
17.
GRCh37:
Chr1:209788546
GRCh38:
Chr1:209615201
LAMB3Junctional epidermolysis bullosaLikely benign
(Jan 13, 2018)
criteria provided, single submitter
18.
GRCh37:
Chr1:209788597
GRCh38:
Chr1:209615252
LAMB3not specifiedUncertain significance
(Jul 17, 2020)
criteria provided, single submitter
19.
GRCh37:
Chr1:209788617-209788618
GRCh38:
Chr1:209615272-209615273
LAMB3Junctional epidermolysis bullosa gravis of HerlitzLikely pathogenic
(Jan 11, 2016)
criteria provided, single submitter
20.
GRCh37:
Chr1:209788634
GRCh38:
Chr1:209615289
LAMB3not providedLikely benign
(Jun 14, 2022)
criteria provided, single submitter
21.
GRCh37:
Chr1:209788643
GRCh38:
Chr1:209615298
LAMB3not providedLikely benign
(Oct 16, 2022)
criteria provided, single submitter
22.
GRCh37:
Chr1:209788644
GRCh38:
Chr1:209615299
LAMB3R1164HInborn genetic diseasesUncertain significance
(Nov 19, 2022)
criteria provided, single submitter
23.
GRCh37:
Chr1:209788645
GRCh38:
Chr1:209615300
LAMB3R1164CAmelogenesis imperfecta type 1AUncertain significance
(Mar 1, 2023)
criteria provided, single submitter
24.
GRCh37:
Chr1:209788656
GRCh38:
Chr1:209615311
LAMB3H1160Rnot provided, Junctional epidermolysis bullosaConflicting interpretations of pathogenicity
(Sep 20, 2022)
criteria provided, conflicting interpretations
25.
GRCh37:
Chr1:209788678
GRCh38:
Chr1:209615333
LAMB3R1153SInborn genetic diseasesUncertain significance
(Feb 23, 2023)
criteria provided, single submitter
26.
GRCh37:
Chr1:209788682
GRCh38:
Chr1:209615337
LAMB3not providedLikely benign
(Feb 4, 2022)
criteria provided, single submitter
27.
GRCh37:
Chr1:209788682-209788689
GRCh38:
Chr1:209615337-209615344
LAMB3G1149fsnot providedLikely pathogenic
(Jun 20, 2022)
criteria provided, single submitter
28.
GRCh37:
Chr1:209788685
GRCh38:
Chr1:209615340
LAMB3not providedLikely benign
(Jun 25, 2019)
criteria provided, single submitter
29.
GRCh37:
Chr1:209788687
GRCh38:
Chr1:209615342
LAMB3not provided, Junctional epidermolysis bullosa, not specified
Benign
(Nov 4, 2022)
criteria provided, multiple submitters, no conflicts
30.
GRCh37:
Chr1:209788691
GRCh38:
Chr1:209615346
LAMB3not providedLikely benign
(Sep 2, 2022)
criteria provided, single submitter
31.
GRCh37:
Chr1:209788700
GRCh38:
Chr1:209615355
LAMB3not providedLikely benign
(Oct 19, 2022)
criteria provided, single submitter
32.
GRCh37:
Chr1:209788701-209788703
GRCh38:
Chr1:209615356-209615358
LAMB3A1145Vnot providedUncertain significance
(Sep 16, 2018)
no assertion criteria provided
33.
GRCh37:
Chr1:209788701
GRCh38:
Chr1:209615356
LAMB3A1145VInborn genetic diseases, not providedUncertain significance
(Feb 15, 2023)
criteria provided, multiple submitters, no conflicts
34.
GRCh37:
Chr1:209788703
GRCh38:
Chr1:209615358
LAMB3Amelogenesis imperfecta type 1A, Junctional epidermolysis bullosa, not specified,
not provided, Junctional epidermolysis bullosa, non-Herlitz type, Junctional epidermolysis bullosa gravis of Herlitz
Benign
(Nov 4, 2022)
criteria provided, multiple submitters, no conflicts
35.
GRCh37:
Chr1:209788704
GRCh38:
Chr1:209615359
LAMB3S1144*Amelogenesis imperfecta type 1APathogenic
(May 1, 2006)
no assertion criteria provided
36.
GRCh37:
Chr1:209788706
GRCh38:
Chr1:209615361
LAMB3not providedLikely benign
(Jun 22, 2020)
criteria provided, single submitter
37.
GRCh37:
Chr1:209788707
GRCh38:
Chr1:209615362
LAMB3R1143Hnot providedUncertain significance
(Sep 30, 2021)
criteria provided, single submitter
38.
GRCh37:
Chr1:209788709
GRCh38:
Chr1:209615364
LAMB3not providedLikely benign
(Nov 23, 2020)
criteria provided, single submitter
39.
GRCh37:
Chr1:209788719
GRCh38:
Chr1:209615374
LAMB3A1139VJunctional epidermolysis bullosaUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
40.
GRCh37:
Chr1:209788721
GRCh38:
Chr1:209615376
LAMB3not providedLikely benign
(Sep 19, 2022)
criteria provided, single submitter
41.
GRCh37:
Chr1:209788724
GRCh38:
Chr1:209615379
LAMB3not providedLikely benign
(Oct 16, 2022)
criteria provided, single submitter
42.
GRCh37:
Chr1:209788727
GRCh38:
Chr1:209615382
LAMB3not providedLikely benign
(Oct 31, 2019)
criteria provided, single submitter
43.
GRCh37:
Chr1:209788731
GRCh38:
Chr1:209615386
LAMB3R1135Qnot provided, Junctional epidermolysis bullosaUncertain significance
(Sep 19, 2022)
criteria provided, multiple submitters, no conflicts
44.
GRCh37:
Chr1:209788732
GRCh38:
Chr1:209615387
LAMB3R1135Wnot providedUncertain significance
(Aug 27, 2021)
criteria provided, single submitter
45.
GRCh37:
Chr1:209788736
GRCh38:
Chr1:209615391
LAMB3not providedLikely benign
(Feb 6, 2021)
criteria provided, single submitter
46.
GRCh37:
Chr1:209788740-209788741
GRCh38:
Chr1:209615395-209615396
LAMB3E1132fsAmelogenesis imperfecta type 1APathogenic
(Jan 1, 2014)
no assertion criteria provided
47.
GRCh37:
Chr1:209788753
GRCh38:
Chr1:209615408
LAMB3Amelogenesis imperfecta type 1APathogenic
(Mar 1, 2017)
no assertion criteria provided
48.
GRCh37:
Chr1:209788810
GRCh38:
Chr1:209615465
LAMB3not providedBenign
(Mar 3, 2015)
criteria provided, single submitter
49.
GRCh37:
Chr1:209789086
GRCh38:
Chr1:209615741
LAMB3not providedBenign
(Nov 12, 2018)
criteria provided, single submitter
50.
GRCh37:
Chr1:209789808
GRCh38:
Chr1:209616463
LAMB3Junctional epidermolysis bullosaUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
51.
GRCh37:
Chr1:209789815
GRCh38:
Chr1:209616470
LAMB3Amelogenesis imperfecta type 1ALikely pathogenic
(Feb 7, 2020)
criteria provided, single submitter
52.
GRCh37:
Chr1:209789830
GRCh38:
Chr1:209616485
LAMB3M1123KJunctional epidermolysis bullosa, not providedConflicting interpretations of pathogenicity
(Oct 15, 2022)
criteria provided, conflicting interpretations
53.
GRCh37:
Chr1:209789841
GRCh38:
Chr1:209616496
LAMB3not providedLikely benign
(Aug 30, 2022)
criteria provided, single submitter
54.
GRCh37:
Chr1:209789844
GRCh38:
Chr1:209616499
LAMB3not providedLikely benign
(Dec 15, 2021)
criteria provided, single submitter
55.
GRCh37:
Chr1:209789853
GRCh38:
Chr1:209616508
LAMB3not providedLikely benign
(Mar 17, 2021)
criteria provided, single submitter
56.
GRCh37:
Chr1:209789855
GRCh38:
Chr1:209616510
LAMB3not providedLikely benign
(Aug 17, 2021)
criteria provided, single submitter
57.
GRCh37:
Chr1:209789858
GRCh38:
Chr1:209616513
LAMB3E1114*Amelogenesis imperfecta type 1APathogenic
(Mar 1, 2017)
no assertion criteria provided
58.
GRCh37:
Chr1:209789859
GRCh38:
Chr1:209616514
LAMB3not providedLikely benign
(Jun 27, 2022)
criteria provided, single submitter
59.
GRCh37:
Chr1:209789864
GRCh38:
Chr1:209616519
LAMB3A1112TInborn genetic diseasesUncertain significance
(Sep 14, 2022)
criteria provided, single submitter
60.
GRCh37:
Chr1:209789865
GRCh38:
Chr1:209616520
LAMB3not providedLikely benign
(Jun 26, 2022)
criteria provided, single submitter
61.
GRCh37:
Chr1:209789869
GRCh38:
Chr1:209616524
LAMB3T1110IJunctional epidermolysis bullosa gravis of Herlitz, Junctional epidermolysis bullosaUncertain significance
(Jan 13, 2018)
criteria provided, multiple submitters, no conflicts
62.
GRCh37:
Chr1:209789875
GRCh38:
Chr1:209616530
LAMB3V1108GInborn genetic diseases, Junctional epidermolysis bullosaUncertain significance
(Aug 2, 2021)
criteria provided, multiple submitters, no conflicts
63.
GRCh37:
Chr1:209789880
GRCh38:
Chr1:209616535
LAMB3Q1106HJunctional epidermolysis bullosaUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
64.
GRCh37:
Chr1:209789889
GRCh38:
Chr1:209616544
LAMB3not providedLikely benign
(Aug 14, 2021)
criteria provided, single submitter
65.
GRCh37:
Chr1:209789892
GRCh38:
Chr1:209616547
LAMB3not providedLikely benign
(Jul 9, 2022)
criteria provided, single submitter
66.
GRCh37:
Chr1:209789893
GRCh38:
Chr1:209616548
LAMB3G1102fsAmelogenesis imperfecta type 1ALikely pathogenic
(Mar 1, 2023)
criteria provided, single submitter
67.
GRCh37:
Chr1:209789904
GRCh38:
Chr1:209616559
LAMB3not providedLikely benign
(Sep 16, 2021)
criteria provided, single submitter
68.
GRCh37:
Chr1:209789905
GRCh38:
Chr1:209616560
LAMB3L1098PInborn genetic diseasesUncertain significance
(Jun 7, 2023)
criteria provided, single submitter
69.
GRCh37:
Chr1:209789914-209789917
GRCh38:
Chr1:209616569-209616572
LAMB3not providedUncertain significance
(Oct 20, 2020)
criteria provided, single submitter
70.
GRCh37:
Chr1:209789918
GRCh38:
Chr1:209616573
LAMB3Q1094KInborn genetic diseasesUncertain significance
(Jun 28, 2023)
criteria provided, single submitter
71.
GRCh37:
Chr1:209789919
GRCh38:
Chr1:209616574
LAMB3not providedLikely benign
(Sep 15, 2022)
criteria provided, single submitter
72.
GRCh37:
Chr1:209789925
GRCh38:
Chr1:209616580
LAMB3not providedLikely benign
(Mar 8, 2022)
criteria provided, single submitter
73.
GRCh37:
Chr1:209789925
GRCh38:
Chr1:209616580
LAMB3not providedLikely benign
(Apr 16, 2022)
criteria provided, single submitter
74.
GRCh37:
Chr1:209789926
GRCh38:
Chr1:209616581
LAMB3R1091QInborn genetic diseasesUncertain significance
(Aug 21, 2023)
criteria provided, single submitter
75.
GRCh37:
Chr1:209789946
GRCh38:
Chr1:209616601
LAMB3not providedBenign
(Oct 20, 2022)
criteria provided, single submitter
76.
GRCh37:
Chr1:209789947-209789948
GRCh38:
Chr1:209616602-209616603
LAMB3K1084fsJunctional epidermolysis bullosa gravis of HerlitzLikely pathogenic
(Aug 8, 2017)
criteria provided, single submitter
77.
GRCh37:
Chr1:209789951
GRCh38:
Chr1:209616606
LAMB3Q1083*Junctional epidermolysis bullosa, non-Herlitz typePathogenic
(Jan 24, 2021)
criteria provided, single submitter
78.
GRCh37:
Chr1:209789958-209789959
GRCh38:
Chr1:209616613-209616614
LAMB3R1080fsnot providedPathogenic
(Nov 4, 2021)
criteria provided, single submitter
79.
GRCh37:
Chr1:209789958
GRCh38:
Chr1:209616613
LAMB3not providedLikely benign
(Apr 28, 2020)
criteria provided, single submitter
80.
GRCh37:
Chr1:209789961
GRCh38:
Chr1:209616616
LAMB3not providedLikely benign
(Mar 13, 2022)
criteria provided, single submitter
81.
GRCh37:
Chr1:209789967
GRCh38:
Chr1:209616622
LAMB3not providedLikely benign
(Mar 15, 2022)
criteria provided, single submitter
82.
GRCh37:
Chr1:209789970
GRCh38:
Chr1:209616625
LAMB3not providedUncertain significance
(Sep 16, 2018)
no assertion criteria provided
83.
GRCh37:
Chr1:209789978
GRCh38:
Chr1:209616633
LAMB3not providedLikely benign
(Feb 18, 2021)
criteria provided, single submitter
84.
GRCh37:
Chr1:209790744
GRCh38:
Chr1:209617399
LAMB3not specifiedUncertain significance
(Dec 23, 2021)
criteria provided, single submitter
85.
GRCh37:
Chr1:209790745
GRCh38:
Chr1:209617400
LAMB3not providedLikely benign
(Oct 29, 2022)
criteria provided, single submitter
86.
GRCh37:
Chr1:209790748
GRCh38:
Chr1:209617403
LAMB3not providedLikely benign
(Aug 14, 2022)
criteria provided, single submitter
87.
GRCh37:
Chr1:209790753
GRCh38:
Chr1:209617408
LAMB3not providedPathogenic
(May 5, 2022)
criteria provided, single submitter
88.
GRCh37:
Chr1:209790754
GRCh38:
Chr1:209617409
LAMB3Junctional epidermolysis bullosa gravis of Herlitz, Junctional epidermolysis bullosa, non-Herlitz type, Amelogenesis imperfecta type 1A,
Junctional epidermolysis bullosa, not provided
Pathogenic
(May 29, 2022)
criteria provided, multiple submitters, no conflicts
89.
GRCh37:
Chr1:209790757
GRCh38:
Chr1:209617412
LAMB3E1076*Junctional epidermolysis bullosa gravis of Herlitz, Junctional epidermolysis bullosa, non-Herlitz typeLikely pathogenic
(Nov 16, 2021)
criteria provided, single submitter
90.
GRCh37:
Chr1:209790765
GRCh38:
Chr1:209617420
LAMB3S1073NInborn genetic diseasesUncertain significance
(Apr 25, 2022)
criteria provided, single submitter
91.
GRCh37:
Chr1:209790770
GRCh38:
Chr1:209617425
LAMB3not providedLikely benign
(Apr 9, 2022)
criteria provided, single submitter
92.
GRCh37:
Chr1:209790771
GRCh38:
Chr1:209617426
LAMB3A1071EInborn genetic diseasesUncertain significance
(Aug 10, 2021)
criteria provided, single submitter
93.
GRCh37:
Chr1:209790772
GRCh38:
Chr1:209617427
LAMB3A1071TJunctional epidermolysis bullosaUncertain significance
(Jan 12, 2018)
criteria provided, single submitter
94.
GRCh37:
Chr1:209790779
GRCh38:
Chr1:209617434
LAMB3Junctional epidermolysis bullosaUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
95.
GRCh37:
Chr1:209790782
GRCh38:
Chr1:209617437
LAMB3not providedLikely benign
(Jun 17, 2022)
criteria provided, single submitter
96.
GRCh37:
Chr1:209790791
GRCh38:
Chr1:209617446
LAMB3not providedLikely benign
(Nov 2, 2022)
criteria provided, single submitter
97.
GRCh37:
Chr1:209790792
GRCh38:
Chr1:209617447
LAMB3A1064VInborn genetic diseasesUncertain significance
(Jun 17, 2022)
criteria provided, single submitter
98.
GRCh37:
Chr1:209790794
GRCh38:
Chr1:209617449
LAMB3not providedLikely benign
(Nov 1, 2021)
criteria provided, single submitter
99.
GRCh37:
Chr1:209790812
GRCh38:
Chr1:209617467
LAMB3not providedLikely benign
(Jan 23, 2019)
criteria provided, single submitter
100.
GRCh37:
Chr1:209790815
GRCh38:
Chr1:209617470
LAMB3not providedLikely benign
(Aug 18, 2021)
criteria provided, single submitter
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