| - 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 cases | Pathogenic (Aug 12, 2011) | criteria provided, single submitter |
| - GRCh37:
- Chr1:200113731-203081206
- GRCh38:
- Chr1:200144603-203112078
| ADIPOR1, ARL8A, ASCL5, CACNA1S, CAMSAP2, CSRP1, CSRP1-AS1, CYB5R1, DDX59, DDX59-AS1, ELF3, ELF3-AS1, GPR25, GPR37L1, IGFN1, INAVA, IPO9, IPO9-AS1, KDM5B, KIF14, KIF21B, KLHL12, LAD1, LGR6, LINC00862, LMOD1, LOC101929305, LOC111429603, LOC111721704, LOC112577526, LOC112577527, LOC112577528, LOC112577529, LOC112577530, LOC114827844, LOC115804238, LOC115804239, LOC115804240, LOC115804242, LOC120893170, LOC120893171, LOC120893172, LOC120893173, LOC120893174, LOC122149340, LOC122149341, LOC122149342, LOC122149343, LOC122149344, LOC122149345, LOC122149346, LOC126805974, LOC126805975, LOC126805976, LOC126805977, LOC126805978, LOC129388725, LOC129388726, LOC129388727, LOC129388728, LOC129388729, 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, LOC129932244, LOC129932245, LOC129932246, LOC129932247, LOC129932248, LOC129932249, LOC129932250, LOC129932251, LOC129932252, LOC129932253, LOC129932254, LOC129932255, LOC129932256, LOC129932257, LOC129932258, LOC129932259, LOC129932260, LOC129932261, LOC129932262, MIR1231, MIR5191, MIR6739, MIR6740, MYOG, MYOPARR, NAV1, NR5A2, PCAT6, PHLDA3, PKP1, PPFIA4, PPP1R12B, PTPN7, RABIF, RNPEP, SHISA4, SNORA70H, SYT2, TIMM17A, TMEM183A, TMEM9, TNNI1, TNNT2, UBE2T, ZNF281 | | See cases | Pathogenic (Aug 2, 2013) | no assertion criteria provided |
| - GRCh37:
- Chr1:201008649
- GRCh38:
- Chr1:201039521
| CACNA1S, LOC101929305 | | not provided, Hypokalemic periodic paralysis, type 1 | Benign/Likely benign (Aug 17, 2018) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:201008699
- GRCh38:
- Chr1:201039571
| CACNA1S, LOC101929305 | | Malignant hyperthermia of anesthesia, Hypokalemic periodic paralysis | Uncertain significance (Jun 14, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr1:201008707
- GRCh38:
- Chr1:201039579
| CACNA1S, LOC101929305 | | Hypokalemic periodic paralysis, type 1 | Uncertain significance (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr1:201008776
- GRCh38:
- Chr1:201039648
| LOC101929305, CACNA1S | | Hypokalemic periodic paralysis, type 1 | Uncertain significance (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr1:201008789
- GRCh38:
- Chr1:201039661
| CACNA1S, LOC101929305 | | Hypokalemic periodic paralysis, type 1 | Uncertain significance (Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr1:201008796
- GRCh38:
- Chr1:201039668
| CACNA1S, LOC101929305 | | Hypokalemic periodic paralysis, type 1 | Likely benign (Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr1:201008825
- GRCh38:
- Chr1:201039697
| CACNA1S, LOC101929305 | | Hypokalemic periodic paralysis, type 1 | Uncertain significance (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr1:201008850
- GRCh38:
- Chr1:201039722
| CACNA1S, LOC101929305 | | Malignant hyperthermia of anesthesia, Hypokalemic periodic paralysis | Uncertain significance (Jun 14, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr1:201008855
- GRCh38:
- Chr1:201039727
| LOC101929305, CACNA1S | | Hypokalemic periodic paralysis, type 1 | Likely benign (Apr 27, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr1:201008872
- GRCh38:
- Chr1:201039744
| CACNA1S, LOC101929305 | | Hypokalemic periodic paralysis, type 1 | Uncertain significance (Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr1:201008960
- GRCh38:
- Chr1:201039832
| CACNA1S, LOC101929305 | | Malignant hyperthermia, susceptibility to, 5, Hypokalemic periodic paralysis, type 1 | Uncertain significance (Jul 12, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr1:201008961
- GRCh38:
- Chr1:201039833
| CACNA1S, LOC101929305 | | not provided | Uncertain significance (Sep 16, 2018) | no assertion criteria provided |
| - GRCh37:
- Chr1:201008967
- GRCh38:
- Chr1:201039839
| CACNA1S, LOC101929305 | R1872G | Malignant hyperthermia, susceptibility to, 5, Hypokalemic periodic paralysis, type 1 | Uncertain significance (Aug 31, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr1:201008968
- GRCh38:
- Chr1:201039840
| CACNA1S, LOC101929305 | | Malignant hyperthermia, susceptibility to, 5, Hypokalemic periodic paralysis, type 1 | Likely benign (Jul 27, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr1:201008969
- GRCh38:
- Chr1:201039841
| CACNA1S, LOC101929305 | P1871L | Hypokalemic periodic paralysis, type 1, Malignant hyperthermia, susceptibility to, 5 | Uncertain significance (Feb 4, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:201008970
- GRCh38:
- Chr1:201039842
| CACNA1S, LOC101929305 | P1871S | Malignant hyperthermia, susceptibility to, 5, Hypokalemic periodic paralysis, type 1 | Uncertain significance (Jun 11, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:201008975
- GRCh38:
- Chr1:201039847
| CACNA1S, LOC101929305 | I1869T | Malignant hyperthermia, susceptibility to, 5, Hypokalemic periodic paralysis, type 1 | Uncertain significance (Mar 18, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:201008988
- GRCh38:
- Chr1:201039860
| CACNA1S, LOC101929305 | Q1865fs | Malignant hyperthermia, susceptibility to, 5, Hypokalemic periodic paralysis, type 1 | Uncertain significance (Aug 9, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:201008989
- GRCh38:
- Chr1:201039861
| CACNA1S | | Malignant hyperthermia, susceptibility to, 5, Hypokalemic periodic paralysis, type 1, not provided
| Likely benign (Oct 5, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:201008998
- GRCh38:
- Chr1:201039870
| CACNA1S, LOC101929305 | H1861Q | Malignant hyperthermia, susceptibility to, 5, Hypokalemic periodic paralysis, type 1 | Uncertain significance (Sep 19, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:201008998
- GRCh38:
- Chr1:201039870
| CACNA1S, LOC101929305 | | Malignant hyperthermia, susceptibility to, 5, Hypokalemic periodic paralysis, type 1 | Likely benign (Aug 4, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:201009005
- GRCh38:
- Chr1:201039877
| CACNA1S, LOC101929305 | D1859G | Hypokalemic periodic paralysis, type 1, Malignant hyperthermia, susceptibility to, 5, Thyrotoxic periodic paralysis, susceptibility to, 1, Hypokalemic periodic paralysis, type 1, Malignant hyperthermia, susceptibility to, 5, not provided
| Uncertain significance (Aug 22, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:201009006
- GRCh38:
- Chr1:201039878
| CACNA1S, LOC101929305 | D1859N | Hypokalemic periodic paralysis, type 1, Malignant hyperthermia, susceptibility to, 5, Hypokalemic periodic paralysis, type 1, Thyrotoxic periodic paralysis, susceptibility to, 1, Malignant hyperthermia, susceptibility to, 5 | Conflicting interpretations of pathogenicity (Jul 11, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr1:201009007
- GRCh38:
- Chr1:201039879
| CACNA1S, LOC101929305 | | not specified, Hypokalemic periodic paralysis, type 1, Malignant hyperthermia, susceptibility to, 5
| Likely benign (Apr 5, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:201009009
- GRCh38:
- Chr1:201039881
| CACNA1S, LOC101929305 | L1858F | Hypokalemic periodic paralysis, type 1, Malignant hyperthermia, susceptibility to, 5 | Likely benign (Aug 9, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:201009011
- GRCh38:
- Chr1:201039883
| CACNA1S | S1857N | Hypokalemic periodic paralysis, type 1, Malignant hyperthermia, susceptibility to, 5, Hypokalemic periodic paralysis, type 1, not provided, Hypokalemic periodic paralysis, type 1, Thyrotoxic periodic paralysis, susceptibility to, 1, Malignant hyperthermia, susceptibility to, 5, not specified | Benign/Likely benign (Oct 1, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:201009024
- GRCh38:
- Chr1:201039896
| CACNA1S, LOC101929305 | S1853P | Malignant hyperthermia, susceptibility to, 5, Hypokalemic periodic paralysis, type 1 | Uncertain significance (Aug 9, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:201009025
- GRCh38:
- Chr1:201039897
| CACNA1S, LOC101929305 | | Hypokalemic periodic paralysis, type 1, Malignant hyperthermia, susceptibility to, 5 | Likely benign (Sep 29, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:201009027
- GRCh38:
- Chr1:201039899
| CACNA1S, LOC101929305 | G1852R | Hypokalemic periodic paralysis, type 1, Malignant hyperthermia, susceptibility to, 5, Hypokalemic periodic paralysis, type 1
| Benign/Likely benign (Sep 29, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:201009031
- GRCh38:
- Chr1:201039903
| CACNA1S | N1850K | Malignant hyperthermia, susceptibility to, 5, Hypokalemic periodic paralysis, type 1 | Uncertain significance (Oct 13, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:201009047
- GRCh38:
- Chr1:201039919
| CACNA1S, LOC101929305 | S1845F | Malignant hyperthermia, susceptibility to, 5, Hypokalemic periodic paralysis, type 1 | Uncertain significance (Sep 7, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:201009049
- GRCh38:
- Chr1:201039921
| CACNA1S, LOC101929305 | S1844R | Malignant hyperthermia, susceptibility to, 5, Hypokalemic periodic paralysis, type 1 | Uncertain significance (Sep 1, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr1:201009050
- GRCh38:
- Chr1:201039922
| CACNA1S, LOC101929305 | S1844T | Malignant hyperthermia, susceptibility to, 5, Hypokalemic periodic paralysis, type 1 | Benign (Aug 30, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:201009050
- GRCh38:
- Chr1:201039922
| CACNA1S, LOC101929305 | S1844N | Malignant hyperthermia, susceptibility to, 5, Hypokalemic periodic paralysis, type 1 | Uncertain significance (Jul 11, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:201009055
- GRCh38:
- Chr1:201039927
| LOC101929305, CACNA1S | M1842I | Hypokalemic periodic paralysis, type 1, Malignant hyperthermia, susceptibility to, 5, not provided
| Uncertain significance (Sep 15, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:201009061
- GRCh38:
- Chr1:201039933
| LOC101929305, CACNA1S | | Hypokalemic periodic paralysis, type 1, Malignant hyperthermia, susceptibility to, 5 | Likely benign (Feb 17, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr1:201009066
- GRCh38:
- Chr1:201039938
| CACNA1S | P1839S | Hypokalemic periodic paralysis, type 1, Malignant hyperthermia, susceptibility to, 5, not provided, Hypokalemic periodic paralysis, type 1 | Benign/Likely benign (Nov 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:201009069
- GRCh38:
- Chr1:201039941
| CACNA1S, LOC101929305 | A1838S | Hypokalemic periodic paralysis, type 1 | Uncertain significance (Mar 30, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr1:201009071
- GRCh38:
- Chr1:201039943
| CACNA1S | E1837G | Malignant hyperthermia, susceptibility to, 5, Hypokalemic periodic paralysis, type 1 | Likely benign (Sep 1, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:201009071
- GRCh38:
- Chr1:201039943
| CACNA1S | E1837A | not provided, Hypokalemic periodic paralysis, type 1, Hypokalemic periodic paralysis, type 1, Malignant hyperthermia, susceptibility to, 5 | Conflicting interpretations of pathogenicity (Sep 25, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr1:201009074
- GRCh38:
- Chr1:201039946
| CACNA1S | R1836Q | Malignant hyperthermia, susceptibility to, 5, Hypokalemic periodic paralysis, type 1 | Likely benign (Jul 11, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:201009075
- GRCh38:
- Chr1:201039947
| CACNA1S, LOC101929305 | R1836* | Malignant hyperthermia, susceptibility to, 5, Hypokalemic periodic paralysis, type 1 | Uncertain significance (Jul 25, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:201009075
- GRCh38:
- Chr1:201039947
| CACNA1S, LOC101929305 | | Malignant hyperthermia, susceptibility to, 5, Hypokalemic periodic paralysis, type 1 | Likely benign (Sep 30, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr1:201009084-201009091
- GRCh38:
- Chr1:201039956-201039963
| LOC101929305, CACNA1S | L1832fs | not specified, Hypokalemic periodic paralysis, type 1, Malignant hyperthermia, susceptibility to, 5
| Benign/Likely benign (Nov 3, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:201009088
- GRCh38:
- Chr1:201039960
| CACNA1S, LOC101929305 | | Malignant hyperthermia, susceptibility to, 5, Hypokalemic periodic paralysis, type 1 | Likely benign (Mar 18, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:201009092
- GRCh38:
- Chr1:201039964
| CACNA1S | T1830R | Malignant hyperthermia of anesthesia | Uncertain significance (Oct 1, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr1:201009097
- GRCh38:
- Chr1:201039969
| CACNA1S, LOC101929305 | M1828I | Inborn genetic diseases | Uncertain significance (Aug 6, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr1:201009099
- GRCh38:
- Chr1:201039971
| CACNA1S, LOC101929305 | M1828V | Malignant hyperthermia, susceptibility to, 5, Hypokalemic periodic paralysis, type 1 | Uncertain significance (Aug 16, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:201009101
- GRCh38:
- Chr1:201039973
| CACNA1S, LOC101929305 | I1827N | Malignant hyperthermia, susceptibility to, 5, Hypokalemic periodic paralysis, type 1 | Uncertain significance (Jun 27, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:201009108
- GRCh38:
- Chr1:201039980
| CACNA1S | V1825M | Hypokalemic periodic paralysis, type 1, Malignant hyperthermia, susceptibility to, 5 | Uncertain significance (May 3, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:201009112
- GRCh38:
- Chr1:201039984
| CACNA1S, LOC101929305 | | Malignant hyperthermia, susceptibility to, 5, Hypokalemic periodic paralysis, type 1 | Likely benign (Feb 27, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:201009115
- GRCh38:
- Chr1:201039987
| CACNA1S | | not provided | Likely benign (Sep 1, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr1:201009119
- GRCh38:
- Chr1:201039991
| CACNA1S, LOC101929305 | E1821G | not provided, Hypokalemic periodic paralysis, type 1, Malignant hyperthermia, susceptibility to, 5, Thyrotoxic periodic paralysis, susceptibility to, 1, Hypokalemic periodic paralysis, type 1, Malignant hyperthermia, susceptibility to, 5
| Uncertain significance (Aug 22, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:201009140
- GRCh38:
- Chr1:201040012
| CACNA1S, LOC101929305 | L1814P | not provided | Uncertain significance (May 14, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr1:201009144
- GRCh38:
- Chr1:201040016
| CACNA1S, LOC101929305 | A1813T | Hypokalemic periodic paralysis, type 1, Malignant hyperthermia, susceptibility to, 5 | Likely benign (Jul 19, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:201009158
- GRCh38:
- Chr1:201040030
| CACNA1S, LOC101929305 | M1808T | Malignant hyperthermia, susceptibility to, 5, Hypokalemic periodic paralysis, type 1 | Likely benign (Jul 26, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:201009160
- GRCh38:
- Chr1:201040032
| CACNA1S, LOC101929305 | | Malignant hyperthermia, susceptibility to, 5, Hypokalemic periodic paralysis, type 1 | Likely benign (Mar 29, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:201009164
- GRCh38:
- Chr1:201040036
| CACNA1S | F1806S | Malignant hyperthermia of anesthesia | Uncertain significance (Oct 1, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr1:201009166
- GRCh38:
- Chr1:201040038
| CACNA1S, LOC101929305 | | Hypokalemic periodic paralysis, type 1, Malignant hyperthermia, susceptibility to, 5 | Likely benign (Jan 16, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr1:201009181-201009182
- GRCh38:
- Chr1:201040053-201040054
| CACNA1S, LOC101929305 | L1800S | Hypokalemic periodic paralysis, type 1, Malignant hyperthermia, susceptibility to, 5 | Likely benign (Sep 26, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr1:201009182
- GRCh38:
- Chr1:201040054
| CACNA1S, LOC101929305 | L1800S | not specified, Hypokalemic periodic paralysis, type 1, Hypokalemic periodic paralysis, type 1, Malignant hyperthermia, susceptibility to, 5 | Benign (Nov 4, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:201009187
- GRCh38:
- Chr1:201040059
| CACNA1S, LOC101929305 | | Malignant hyperthermia, susceptibility to, 5, Hypokalemic periodic paralysis, type 1 | Likely benign (Sep 27, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:201009187
- GRCh38:
- Chr1:201040059
| CACNA1S, LOC101929305 | | Malignant hyperthermia, susceptibility to, 5, Hypokalemic periodic paralysis, type 1, Thyrotoxic periodic paralysis, susceptibility to, 1, Malignant hyperthermia, susceptibility to, 5, Hypokalemic periodic paralysis, type 1 | Likely benign (Apr 24, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:201009189
- GRCh38:
- Chr1:201040061
| CACNA1S | G1798R | not provided | Uncertain significance (Aug 1, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr1:201009193
- GRCh38:
- Chr1:201040065
| LOC101929305, CACNA1S | | Malignant hyperthermia, susceptibility to, 5, Hypokalemic periodic paralysis, type 1 | Likely benign (Sep 2, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:201009194
- GRCh38:
- Chr1:201040066
| CACNA1S, LOC101929305 | G1796D | Malignant hyperthermia, susceptibility to, 5, Hypokalemic periodic paralysis, type 1 | Uncertain significance (Oct 6, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr1:201009194
- GRCh38:
- Chr1:201040066
| CACNA1S, LOC101929305 | G1796A | Hypokalemic periodic paralysis, type 1 | Uncertain significance (Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr1:201009200
- GRCh38:
- Chr1:201040072
| CACNA1S, LOC101929305 | R1794Q | Hypokalemic periodic paralysis, type 1, Malignant hyperthermia, susceptibility to, 5, Thyrotoxic periodic paralysis, susceptibility to, 1, Hypokalemic periodic paralysis, type 1, Malignant hyperthermia, susceptibility to, 5 | Conflicting interpretations of pathogenicity (Sep 3, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr1:201009213
- GRCh38:
- Chr1:201040085
| CACNA1S, LOC101929305 | | Malignant hyperthermia, susceptibility to, 5, Hypokalemic periodic paralysis, type 1 | Uncertain significance (May 18, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:201009229
- GRCh38:
- Chr1:201040101
| CACNA1S, LOC101929305 | | Hypokalemic periodic paralysis, type 1, Malignant hyperthermia, susceptibility to, 5, Hypokalemic periodic paralysis, type 1, Malignant hyperthermia, susceptibility to, 5, Thyrotoxic periodic paralysis, susceptibility to, 1, not specified
| Benign/Likely benign (Oct 7, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:201009343
- GRCh38:
- Chr1:201040215
| CACNA1S, LOC101929305 | | Malignant hyperthermia, susceptibility to, 5, Hypokalemic periodic paralysis, type 1 | Likely benign (Oct 5, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:201009346
- GRCh38:
- Chr1:201040218
| CACNA1S, LOC101929305 | | Hypokalemic periodic paralysis, type 1, Malignant hyperthermia, susceptibility to, 5 | Likely benign (Dec 8, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr1:201009349
- GRCh38:
- Chr1:201040221
| CACNA1S, LOC101929305 | | Malignant hyperthermia, susceptibility to, 5, Hypokalemic periodic paralysis, type 1, Thyrotoxic periodic paralysis, susceptibility to, 1, Malignant hyperthermia, susceptibility to, 5, Hypokalemic periodic paralysis, type 1, not specified, Hypokalemic periodic paralysis, type 1 | Benign/Likely benign (Nov 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:201009352
- GRCh38:
- Chr1:201040224
| CACNA1S | | Hypokalemic periodic paralysis, type 1, Malignant hyperthermia, susceptibility to, 5, Hypokalemic periodic paralysis, type 1, Malignant hyperthermia, susceptibility to, 5, Thyrotoxic periodic paralysis, susceptibility to, 1 | Likely benign (Oct 15, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:201009353
- GRCh38:
- Chr1:201040225
| CACNA1S, LOC101929305 | | Malignant hyperthermia, susceptibility to, 5, Hypokalemic periodic paralysis, type 1 | Uncertain significance (Aug 27, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr1:201009354
- GRCh38:
- Chr1:201040226
| CACNA1S, LOC101929305 | | Hypokalemic periodic paralysis, type 1, Malignant hyperthermia, susceptibility to, 5 | Uncertain significance (Jun 20, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:201009368
- GRCh38:
- Chr1:201040240
| CACNA1S, LOC101929305 | | Malignant hyperthermia, susceptibility to, 5, Hypokalemic periodic paralysis, type 1 | Likely benign (Oct 28, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:201009373
- GRCh38:
- Chr1:201040245
| CACNA1S, LOC101929305 | | Malignant hyperthermia, susceptibility to, 5, Hypokalemic periodic paralysis, type 1 | Likely benign (Jul 4, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr1:201009385
- GRCh38:
- Chr1:201040257
| CACNA1S | P1782A | CACNA1S-related condition | Uncertain significance (Mar 22, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr1:201009388
- GRCh38:
- Chr1:201040260
| CACNA1S, LOC101929305 | A1781P | Malignant hyperthermia, susceptibility to, 5, Hypokalemic periodic paralysis, type 1 | Uncertain significance (Mar 8, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:201009389
- GRCh38:
- Chr1:201040261
| CACNA1S, LOC101929305 | | Malignant hyperthermia, susceptibility to, 5, Hypokalemic periodic paralysis, type 1 | Likely benign (Jun 13, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:201009389
- GRCh38:
- Chr1:201040261
| CACNA1S, LOC101929305 | | Hypokalemic periodic paralysis, type 1, Malignant hyperthermia, susceptibility to, 5 | Likely benign (Apr 23, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr1:201009394
- GRCh38:
- Chr1:201040266
| CACNA1S, LOC101929305 | C1779G | Hypokalemic periodic paralysis, type 1, Malignant hyperthermia, susceptibility to, 5 | Uncertain significance (May 22, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:201009404
- GRCh38:
- Chr1:201040276
| CACNA1S | | Hypokalemic periodic paralysis, type 1, Malignant hyperthermia, susceptibility to, 5 | Likely benign (Oct 20, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr1:201009407
- GRCh38:
- Chr1:201040279
| CACNA1S, LOC101929305 | | Malignant hyperthermia, susceptibility to, 5, Hypokalemic periodic paralysis, type 1 | Likely benign (Dec 4, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr1:201009414
- GRCh38:
- Chr1:201040286
| CACNA1S, LOC101929305 | T1772S | Malignant hyperthermia, susceptibility to, 5, Hypokalemic periodic paralysis, type 1 | Uncertain significance (Jun 27, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:201009417
- GRCh38:
- Chr1:201040289
| CACNA1S | S1771N | Malignant hyperthermia, susceptibility to, 5, Hypokalemic periodic paralysis, type 1 | Likely benign (Jun 10, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:201009420
- GRCh38:
- Chr1:201040292
| CACNA1S, LOC101929305 | R1770K | Hypokalemic periodic paralysis, type 1, Malignant hyperthermia, susceptibility to, 5 | Uncertain significance (Aug 31, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr1:201009422
- GRCh38:
- Chr1:201040294
| CACNA1S, LOC101929305 | | Malignant hyperthermia, susceptibility to, 5, Hypokalemic periodic paralysis, type 1 | Likely benign (Jun 27, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:201009426
- GRCh38:
- Chr1:201040298
| LOC101929305, CACNA1S | H1768R | Malignant hyperthermia, susceptibility to, 5, Hypokalemic periodic paralysis, type 1, Malignant hyperthermia, susceptibility to, 5, Hypokalemic periodic paralysis, type 1, Thyrotoxic periodic paralysis, susceptibility to, 1 | Uncertain significance (Oct 11, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:201009428
- GRCh38:
- Chr1:201040300
| CACNA1S, LOC101929305 | | Malignant hyperthermia, susceptibility to, 5, Hypokalemic periodic paralysis, type 1 | Likely benign (Apr 12, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:201009429
- GRCh38:
- Chr1:201040301
| CACNA1S, LOC101929305 | P1767R | Malignant hyperthermia, susceptibility to, 5, Hypokalemic periodic paralysis, type 1 | Uncertain significance (Jul 30, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:201009430
- GRCh38:
- Chr1:201040302
| CACNA1S | P1767S | Malignant hyperthermia, susceptibility to, 5, Hypokalemic periodic paralysis, type 1, Malignant hyperthermia, susceptibility to, 5, Hypokalemic periodic paralysis, type 1, Thyrotoxic periodic paralysis, susceptibility to, 1 | Uncertain significance (Sep 24, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:201009430
- GRCh38:
- Chr1:201040302
| CACNA1S | P1767T | Hypokalemic periodic paralysis, type 1, Malignant hyperthermia, susceptibility to, 5, Hypokalemic periodic paralysis, type 1, not provided | Conflicting interpretations of pathogenicity (Jul 17, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr1:201009437
- GRCh38:
- Chr1:201040309
| CACNA1S, LOC101929305 | | Malignant hyperthermia, susceptibility to, 5, Hypokalemic periodic paralysis, type 1 | Likely benign (May 29, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:201009450
- GRCh38:
- Chr1:201040322
| CACNA1S, LOC101929305 | G1760A | Malignant hyperthermia, susceptibility to, 5, Hypokalemic periodic paralysis, type 1 | Uncertain significance (Mar 22, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:201009451
- GRCh38:
- Chr1:201040323
| LOC101929305, CACNA1S | G1760W | Malignant hyperthermia, susceptibility to, 5, Hypokalemic periodic paralysis, type 1 | Uncertain significance (Nov 2, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:201009462
- GRCh38:
- Chr1:201040334
| CACNA1S, LOC101929305 | S1756N | Hypokalemic periodic paralysis, type 1, Malignant hyperthermia, susceptibility to, 5, Hypokalemic periodic paralysis, type 1
| Uncertain significance (Nov 16, 2022) | criteria provided, multiple submitters, no conflicts |