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Items: 1 to 100 of 1886

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:
Chr1:200113731-203081206
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 casesPathogenic
(Aug 2, 2013)
no assertion criteria provided
3.
GRCh37:
Chr1:201008649
GRCh38:
Chr1:201039521
CACNA1S, LOC101929305not provided, Hypokalemic periodic paralysis, type 1Benign/Likely benign
(Aug 17, 2018)
criteria provided, multiple submitters, no conflicts
4.
GRCh37:
Chr1:201008699
GRCh38:
Chr1:201039571
CACNA1S, LOC101929305Malignant hyperthermia of anesthesia, Hypokalemic periodic paralysisUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
5.
GRCh37:
Chr1:201008707
GRCh38:
Chr1:201039579
CACNA1S, LOC101929305Hypokalemic periodic paralysis, type 1Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
6.
GRCh37:
Chr1:201008776
GRCh38:
Chr1:201039648
LOC101929305, CACNA1SHypokalemic periodic paralysis, type 1Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
7.
GRCh37:
Chr1:201008789
GRCh38:
Chr1:201039661
CACNA1S, LOC101929305Hypokalemic periodic paralysis, type 1Uncertain significance
(Jan 12, 2018)
criteria provided, single submitter
8.
GRCh37:
Chr1:201008796
GRCh38:
Chr1:201039668
CACNA1S, LOC101929305Hypokalemic periodic paralysis, type 1Likely benign
(Jan 12, 2018)
criteria provided, single submitter
9.
GRCh37:
Chr1:201008825
GRCh38:
Chr1:201039697
CACNA1S, LOC101929305Hypokalemic periodic paralysis, type 1Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
10.
GRCh37:
Chr1:201008850
GRCh38:
Chr1:201039722
CACNA1S, LOC101929305Malignant hyperthermia of anesthesia, Hypokalemic periodic paralysisUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
11.
GRCh37:
Chr1:201008855
GRCh38:
Chr1:201039727
LOC101929305, CACNA1SHypokalemic periodic paralysis, type 1Likely benign
(Apr 27, 2017)
criteria provided, single submitter
12.
GRCh37:
Chr1:201008872
GRCh38:
Chr1:201039744
CACNA1S, LOC101929305Hypokalemic periodic paralysis, type 1Uncertain significance
(Jan 12, 2018)
criteria provided, single submitter
13.
GRCh37:
Chr1:201008960
GRCh38:
Chr1:201039832
CACNA1S, LOC101929305Malignant hyperthermia, susceptibility to, 5, Hypokalemic periodic paralysis, type 1Uncertain significance
(Jul 12, 2021)
criteria provided, single submitter
14.
GRCh37:
Chr1:201008961
GRCh38:
Chr1:201039833
CACNA1S, LOC101929305not providedUncertain significance
(Sep 16, 2018)
no assertion criteria provided
15.
GRCh37:
Chr1:201008967
GRCh38:
Chr1:201039839
CACNA1S, LOC101929305R1872GMalignant hyperthermia, susceptibility to, 5, Hypokalemic periodic paralysis, type 1Uncertain significance
(Aug 31, 2021)
criteria provided, single submitter
16.
GRCh37:
Chr1:201008968
GRCh38:
Chr1:201039840
CACNA1S, LOC101929305Malignant hyperthermia, susceptibility to, 5, Hypokalemic periodic paralysis, type 1Likely benign
(Jul 27, 2020)
criteria provided, single submitter
17.
GRCh37:
Chr1:201008969
GRCh38:
Chr1:201039841
CACNA1S, LOC101929305P1871LHypokalemic periodic paralysis, type 1, Malignant hyperthermia, susceptibility to, 5Uncertain significance
(Feb 4, 2022)
criteria provided, single submitter
18.
GRCh37:
Chr1:201008970
GRCh38:
Chr1:201039842
CACNA1S, LOC101929305P1871SMalignant hyperthermia, susceptibility to, 5, Hypokalemic periodic paralysis, type 1Uncertain significance
(Jun 11, 2022)
criteria provided, single submitter
19.
GRCh37:
Chr1:201008975
GRCh38:
Chr1:201039847
CACNA1S, LOC101929305I1869TMalignant hyperthermia, susceptibility to, 5, Hypokalemic periodic paralysis, type 1Uncertain significance
(Mar 18, 2022)
criteria provided, single submitter
20.
GRCh37:
Chr1:201008988
GRCh38:
Chr1:201039860
CACNA1S, LOC101929305Q1865fsMalignant hyperthermia, susceptibility to, 5, Hypokalemic periodic paralysis, type 1Uncertain significance
(Aug 9, 2022)
criteria provided, single submitter
21.
GRCh37:
Chr1:201008989
GRCh38:
Chr1:201039861
CACNA1SMalignant hyperthermia, susceptibility to, 5, Hypokalemic periodic paralysis, type 1, not provided
Likely benign
(Oct 5, 2022)
criteria provided, multiple submitters, no conflicts
22.
GRCh37:
Chr1:201008998
GRCh38:
Chr1:201039870
CACNA1S, LOC101929305H1861QMalignant hyperthermia, susceptibility to, 5, Hypokalemic periodic paralysis, type 1Uncertain significance
(Sep 19, 2022)
criteria provided, single submitter
23.
GRCh37:
Chr1:201008998
GRCh38:
Chr1:201039870
CACNA1S, LOC101929305Malignant hyperthermia, susceptibility to, 5, Hypokalemic periodic paralysis, type 1Likely benign
(Aug 4, 2022)
criteria provided, single submitter
24.
GRCh37:
Chr1:201009005
GRCh38:
Chr1:201039877
CACNA1S, LOC101929305D1859GHypokalemic 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
25.
GRCh37:
Chr1:201009006
GRCh38:
Chr1:201039878
CACNA1S, LOC101929305D1859NHypokalemic 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
26.
GRCh37:
Chr1:201009007
GRCh38:
Chr1:201039879
CACNA1S, LOC101929305not specified, Hypokalemic periodic paralysis, type 1, Malignant hyperthermia, susceptibility to, 5
Likely benign
(Apr 5, 2022)
criteria provided, multiple submitters, no conflicts
27.
GRCh37:
Chr1:201009009
GRCh38:
Chr1:201039881
CACNA1S, LOC101929305L1858FHypokalemic periodic paralysis, type 1, Malignant hyperthermia, susceptibility to, 5Likely benign
(Aug 9, 2022)
criteria provided, single submitter
28.
GRCh37:
Chr1:201009011
GRCh38:
Chr1:201039883
CACNA1SS1857NHypokalemic 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
29.
GRCh37:
Chr1:201009024
GRCh38:
Chr1:201039896
CACNA1S, LOC101929305S1853PMalignant hyperthermia, susceptibility to, 5, Hypokalemic periodic paralysis, type 1Uncertain significance
(Aug 9, 2022)
criteria provided, single submitter
30.
GRCh37:
Chr1:201009025
GRCh38:
Chr1:201039897
CACNA1S, LOC101929305Hypokalemic periodic paralysis, type 1, Malignant hyperthermia, susceptibility to, 5Likely benign
(Sep 29, 2022)
criteria provided, single submitter
31.
GRCh37:
Chr1:201009027
GRCh38:
Chr1:201039899
CACNA1S, LOC101929305G1852RHypokalemic 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
32.
GRCh37:
Chr1:201009031
GRCh38:
Chr1:201039903
CACNA1SN1850KMalignant hyperthermia, susceptibility to, 5, Hypokalemic periodic paralysis, type 1Uncertain significance
(Oct 13, 2022)
criteria provided, single submitter
33.
GRCh37:
Chr1:201009047
GRCh38:
Chr1:201039919
CACNA1S, LOC101929305S1845FMalignant hyperthermia, susceptibility to, 5, Hypokalemic periodic paralysis, type 1Uncertain significance
(Sep 7, 2022)
criteria provided, single submitter
34.
GRCh37:
Chr1:201009049
GRCh38:
Chr1:201039921
CACNA1S, LOC101929305S1844RMalignant hyperthermia, susceptibility to, 5, Hypokalemic periodic paralysis, type 1Uncertain significance
(Sep 1, 2021)
criteria provided, single submitter
35.
GRCh37:
Chr1:201009050
GRCh38:
Chr1:201039922
CACNA1S, LOC101929305S1844TMalignant hyperthermia, susceptibility to, 5, Hypokalemic periodic paralysis, type 1Benign
(Aug 30, 2022)
criteria provided, single submitter
36.
GRCh37:
Chr1:201009050
GRCh38:
Chr1:201039922
CACNA1S, LOC101929305S1844NMalignant hyperthermia, susceptibility to, 5, Hypokalemic periodic paralysis, type 1Uncertain significance
(Jul 11, 2022)
criteria provided, single submitter
37.
GRCh37:
Chr1:201009055
GRCh38:
Chr1:201039927
LOC101929305, CACNA1SM1842IHypokalemic periodic paralysis, type 1, Malignant hyperthermia, susceptibility to, 5, not provided
Uncertain significance
(Sep 15, 2022)
criteria provided, multiple submitters, no conflicts
38.
GRCh37:
Chr1:201009061
GRCh38:
Chr1:201039933
LOC101929305, CACNA1SHypokalemic periodic paralysis, type 1, Malignant hyperthermia, susceptibility to, 5Likely benign
(Feb 17, 2020)
criteria provided, single submitter
39.
GRCh37:
Chr1:201009066
GRCh38:
Chr1:201039938
CACNA1SP1839SHypokalemic 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
40.
GRCh37:
Chr1:201009069
GRCh38:
Chr1:201039941
CACNA1S, LOC101929305A1838SHypokalemic periodic paralysis, type 1Uncertain significance
(Mar 30, 2018)
criteria provided, single submitter
41.
GRCh37:
Chr1:201009071
GRCh38:
Chr1:201039943
CACNA1SE1837GMalignant hyperthermia, susceptibility to, 5, Hypokalemic periodic paralysis, type 1Likely benign
(Sep 1, 2022)
criteria provided, single submitter
42.
GRCh37:
Chr1:201009071
GRCh38:
Chr1:201039943
CACNA1SE1837Anot 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
43.
GRCh37:
Chr1:201009074
GRCh38:
Chr1:201039946
CACNA1SR1836QMalignant hyperthermia, susceptibility to, 5, Hypokalemic periodic paralysis, type 1Likely benign
(Jul 11, 2022)
criteria provided, single submitter
44.
GRCh37:
Chr1:201009075
GRCh38:
Chr1:201039947
CACNA1S, LOC101929305R1836*Malignant hyperthermia, susceptibility to, 5, Hypokalemic periodic paralysis, type 1Uncertain significance
(Jul 25, 2022)
criteria provided, single submitter
45.
GRCh37:
Chr1:201009075
GRCh38:
Chr1:201039947
CACNA1S, LOC101929305Malignant hyperthermia, susceptibility to, 5, Hypokalemic periodic paralysis, type 1Likely benign
(Sep 30, 2019)
criteria provided, single submitter
46.
GRCh37:
Chr1:201009084-201009091
GRCh38:
Chr1:201039956-201039963
LOC101929305, CACNA1SL1832fsnot specified, Hypokalemic periodic paralysis, type 1, Malignant hyperthermia, susceptibility to, 5
Benign/Likely benign
(Nov 3, 2022)
criteria provided, multiple submitters, no conflicts
47.
GRCh37:
Chr1:201009088
GRCh38:
Chr1:201039960
CACNA1S, LOC101929305Malignant hyperthermia, susceptibility to, 5, Hypokalemic periodic paralysis, type 1Likely benign
(Mar 18, 2022)
criteria provided, single submitter
48.
GRCh37:
Chr1:201009092
GRCh38:
Chr1:201039964
CACNA1ST1830RMalignant hyperthermia of anesthesiaUncertain significance
(Oct 1, 2016)
criteria provided, single submitter
49.
GRCh37:
Chr1:201009097
GRCh38:
Chr1:201039969
CACNA1S, LOC101929305M1828IInborn genetic diseasesUncertain significance
(Aug 6, 2021)
criteria provided, single submitter
50.
GRCh37:
Chr1:201009099
GRCh38:
Chr1:201039971
CACNA1S, LOC101929305M1828VMalignant hyperthermia, susceptibility to, 5, Hypokalemic periodic paralysis, type 1Uncertain significance
(Aug 16, 2022)
criteria provided, single submitter
51.
GRCh37:
Chr1:201009101
GRCh38:
Chr1:201039973
CACNA1S, LOC101929305I1827NMalignant hyperthermia, susceptibility to, 5, Hypokalemic periodic paralysis, type 1Uncertain significance
(Jun 27, 2022)
criteria provided, single submitter
52.
GRCh37:
Chr1:201009108
GRCh38:
Chr1:201039980
CACNA1SV1825MHypokalemic periodic paralysis, type 1, Malignant hyperthermia, susceptibility to, 5Uncertain significance
(May 3, 2022)
criteria provided, single submitter
53.
GRCh37:
Chr1:201009112
GRCh38:
Chr1:201039984
CACNA1S, LOC101929305Malignant hyperthermia, susceptibility to, 5, Hypokalemic periodic paralysis, type 1Likely benign
(Feb 27, 2022)
criteria provided, single submitter
54.
GRCh37:
Chr1:201009115
GRCh38:
Chr1:201039987
CACNA1Snot providedLikely benign
(Sep 1, 2023)
criteria provided, single submitter
55.
GRCh37:
Chr1:201009119
GRCh38:
Chr1:201039991
CACNA1S, LOC101929305E1821Gnot 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
56.
GRCh37:
Chr1:201009140
GRCh38:
Chr1:201040012
CACNA1S, LOC101929305L1814Pnot providedUncertain significance
(May 14, 2020)
criteria provided, single submitter
57.
GRCh37:
Chr1:201009144
GRCh38:
Chr1:201040016
CACNA1S, LOC101929305A1813THypokalemic periodic paralysis, type 1, Malignant hyperthermia, susceptibility to, 5Likely benign
(Jul 19, 2022)
criteria provided, single submitter
58.
GRCh37:
Chr1:201009158
GRCh38:
Chr1:201040030
CACNA1S, LOC101929305M1808TMalignant hyperthermia, susceptibility to, 5, Hypokalemic periodic paralysis, type 1Likely benign
(Jul 26, 2022)
criteria provided, single submitter
59.
GRCh37:
Chr1:201009160
GRCh38:
Chr1:201040032
CACNA1S, LOC101929305Malignant hyperthermia, susceptibility to, 5, Hypokalemic periodic paralysis, type 1Likely benign
(Mar 29, 2022)
criteria provided, single submitter
60.
GRCh37:
Chr1:201009164
GRCh38:
Chr1:201040036
CACNA1SF1806SMalignant hyperthermia of anesthesiaUncertain significance
(Oct 1, 2016)
criteria provided, single submitter
61.
GRCh37:
Chr1:201009166
GRCh38:
Chr1:201040038
CACNA1S, LOC101929305Hypokalemic periodic paralysis, type 1, Malignant hyperthermia, susceptibility to, 5Likely benign
(Jan 16, 2019)
criteria provided, single submitter
62.
GRCh37:
Chr1:201009181-201009182
GRCh38:
Chr1:201040053-201040054
CACNA1S, LOC101929305L1800SHypokalemic periodic paralysis, type 1, Malignant hyperthermia, susceptibility to, 5Likely benign
(Sep 26, 2021)
criteria provided, single submitter
63.
GRCh37:
Chr1:201009182
GRCh38:
Chr1:201040054
CACNA1S, LOC101929305L1800Snot 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
64.
GRCh37:
Chr1:201009187
GRCh38:
Chr1:201040059
CACNA1S, LOC101929305Malignant hyperthermia, susceptibility to, 5, Hypokalemic periodic paralysis, type 1Likely benign
(Sep 27, 2022)
criteria provided, single submitter
65.
GRCh37:
Chr1:201009187
GRCh38:
Chr1:201040059
CACNA1S, LOC101929305Malignant 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
66.
GRCh37:
Chr1:201009189
GRCh38:
Chr1:201040061
CACNA1SG1798Rnot providedUncertain significance
(Aug 1, 2023)
criteria provided, single submitter
67.
GRCh37:
Chr1:201009193
GRCh38:
Chr1:201040065
LOC101929305, CACNA1SMalignant hyperthermia, susceptibility to, 5, Hypokalemic periodic paralysis, type 1Likely benign
(Sep 2, 2022)
criteria provided, single submitter
68.
GRCh37:
Chr1:201009194
GRCh38:
Chr1:201040066
CACNA1S, LOC101929305G1796DMalignant hyperthermia, susceptibility to, 5, Hypokalemic periodic paralysis, type 1Uncertain significance
(Oct 6, 2021)
criteria provided, single submitter
69.
GRCh37:
Chr1:201009194
GRCh38:
Chr1:201040066
CACNA1S, LOC101929305G1796AHypokalemic periodic paralysis, type 1Uncertain significance
(Jan 12, 2018)
criteria provided, single submitter
70.
GRCh37:
Chr1:201009200
GRCh38:
Chr1:201040072
CACNA1S, LOC101929305R1794QHypokalemic 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
71.
GRCh37:
Chr1:201009213
GRCh38:
Chr1:201040085
CACNA1S, LOC101929305Malignant hyperthermia, susceptibility to, 5, Hypokalemic periodic paralysis, type 1Uncertain significance
(May 18, 2022)
criteria provided, single submitter
72.
GRCh37:
Chr1:201009229
GRCh38:
Chr1:201040101
CACNA1S, LOC101929305Hypokalemic 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
73.
GRCh37:
Chr1:201009343
GRCh38:
Chr1:201040215
CACNA1S, LOC101929305Malignant hyperthermia, susceptibility to, 5, Hypokalemic periodic paralysis, type 1Likely benign
(Oct 5, 2022)
criteria provided, single submitter
74.
GRCh37:
Chr1:201009346
GRCh38:
Chr1:201040218
CACNA1S, LOC101929305Hypokalemic periodic paralysis, type 1, Malignant hyperthermia, susceptibility to, 5Likely benign
(Dec 8, 2021)
criteria provided, single submitter
75.
GRCh37:
Chr1:201009349
GRCh38:
Chr1:201040221
CACNA1S, LOC101929305Malignant 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
76.
GRCh37:
Chr1:201009352
GRCh38:
Chr1:201040224
CACNA1SHypokalemic 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
77.
GRCh37:
Chr1:201009353
GRCh38:
Chr1:201040225
CACNA1S, LOC101929305Malignant hyperthermia, susceptibility to, 5, Hypokalemic periodic paralysis, type 1Uncertain significance
(Aug 27, 2021)
criteria provided, single submitter
78.
GRCh37:
Chr1:201009354
GRCh38:
Chr1:201040226
CACNA1S, LOC101929305Hypokalemic periodic paralysis, type 1, Malignant hyperthermia, susceptibility to, 5Uncertain significance
(Jun 20, 2022)
criteria provided, single submitter
79.
GRCh37:
Chr1:201009368
GRCh38:
Chr1:201040240
CACNA1S, LOC101929305Malignant hyperthermia, susceptibility to, 5, Hypokalemic periodic paralysis, type 1Likely benign
(Oct 28, 2022)
criteria provided, single submitter
80.
GRCh37:
Chr1:201009373
GRCh38:
Chr1:201040245
CACNA1S, LOC101929305Malignant hyperthermia, susceptibility to, 5, Hypokalemic periodic paralysis, type 1Likely benign
(Jul 4, 2019)
criteria provided, single submitter
81.
GRCh37:
Chr1:201009385
GRCh38:
Chr1:201040257
CACNA1SP1782ACACNA1S-related conditionUncertain significance
(Mar 22, 2023)
criteria provided, single submitter
82.
GRCh37:
Chr1:201009388
GRCh38:
Chr1:201040260
CACNA1S, LOC101929305A1781PMalignant hyperthermia, susceptibility to, 5, Hypokalemic periodic paralysis, type 1Uncertain significance
(Mar 8, 2022)
criteria provided, single submitter
83.
GRCh37:
Chr1:201009389
GRCh38:
Chr1:201040261
CACNA1S, LOC101929305Malignant hyperthermia, susceptibility to, 5, Hypokalemic periodic paralysis, type 1Likely benign
(Jun 13, 2022)
criteria provided, single submitter
84.
GRCh37:
Chr1:201009389
GRCh38:
Chr1:201040261
CACNA1S, LOC101929305Hypokalemic periodic paralysis, type 1, Malignant hyperthermia, susceptibility to, 5Likely benign
(Apr 23, 2021)
criteria provided, single submitter
85.
GRCh37:
Chr1:201009394
GRCh38:
Chr1:201040266
CACNA1S, LOC101929305C1779GHypokalemic periodic paralysis, type 1, Malignant hyperthermia, susceptibility to, 5Uncertain significance
(May 22, 2022)
criteria provided, single submitter
86.
GRCh37:
Chr1:201009404
GRCh38:
Chr1:201040276
CACNA1SHypokalemic periodic paralysis, type 1, Malignant hyperthermia, susceptibility to, 5Likely benign
(Oct 20, 2020)
criteria provided, single submitter
87.
GRCh37:
Chr1:201009407
GRCh38:
Chr1:201040279
CACNA1S, LOC101929305Malignant hyperthermia, susceptibility to, 5, Hypokalemic periodic paralysis, type 1Likely benign
(Dec 4, 2019)
criteria provided, single submitter
88.
GRCh37:
Chr1:201009414
GRCh38:
Chr1:201040286
CACNA1S, LOC101929305T1772SMalignant hyperthermia, susceptibility to, 5, Hypokalemic periodic paralysis, type 1Uncertain significance
(Jun 27, 2022)
criteria provided, single submitter
89.
GRCh37:
Chr1:201009417
GRCh38:
Chr1:201040289
CACNA1SS1771NMalignant hyperthermia, susceptibility to, 5, Hypokalemic periodic paralysis, type 1Likely benign
(Jun 10, 2022)
criteria provided, single submitter
90.
GRCh37:
Chr1:201009420
GRCh38:
Chr1:201040292
CACNA1S, LOC101929305R1770KHypokalemic periodic paralysis, type 1, Malignant hyperthermia, susceptibility to, 5Uncertain significance
(Aug 31, 2021)
criteria provided, single submitter
91.
GRCh37:
Chr1:201009422
GRCh38:
Chr1:201040294
CACNA1S, LOC101929305Malignant hyperthermia, susceptibility to, 5, Hypokalemic periodic paralysis, type 1Likely benign
(Jun 27, 2022)
criteria provided, single submitter
92.
GRCh37:
Chr1:201009426
GRCh38:
Chr1:201040298
LOC101929305, CACNA1SH1768RMalignant 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
93.
GRCh37:
Chr1:201009428
GRCh38:
Chr1:201040300
CACNA1S, LOC101929305Malignant hyperthermia, susceptibility to, 5, Hypokalemic periodic paralysis, type 1Likely benign
(Apr 12, 2022)
criteria provided, single submitter
94.
GRCh37:
Chr1:201009429
GRCh38:
Chr1:201040301
CACNA1S, LOC101929305P1767RMalignant hyperthermia, susceptibility to, 5, Hypokalemic periodic paralysis, type 1Uncertain significance
(Jul 30, 2022)
criteria provided, single submitter
95.
GRCh37:
Chr1:201009430
GRCh38:
Chr1:201040302
CACNA1SP1767SMalignant 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
96.
GRCh37:
Chr1:201009430
GRCh38:
Chr1:201040302
CACNA1SP1767THypokalemic 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
97.
GRCh37:
Chr1:201009437
GRCh38:
Chr1:201040309
CACNA1S, LOC101929305Malignant hyperthermia, susceptibility to, 5, Hypokalemic periodic paralysis, type 1Likely benign
(May 29, 2022)
criteria provided, single submitter
98.
GRCh37:
Chr1:201009450
GRCh38:
Chr1:201040322
CACNA1S, LOC101929305G1760AMalignant hyperthermia, susceptibility to, 5, Hypokalemic periodic paralysis, type 1Uncertain significance
(Mar 22, 2022)
criteria provided, single submitter
99.
GRCh37:
Chr1:201009451
GRCh38:
Chr1:201040323
LOC101929305, CACNA1SG1760WMalignant hyperthermia, susceptibility to, 5, Hypokalemic periodic paralysis, type 1Uncertain significance
(Nov 2, 2022)
criteria provided, single submitter
100.
GRCh37:
Chr1:201009462
GRCh38:
Chr1:201040334
CACNA1S, LOC101929305S1756NHypokalemic 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
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