| NM_000069.3(CACNA1S):c.2467C>T (p.Arg823Trp) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV000554629]|Hypokalemic periodic paralysis, type 1 [RCV002483487] |
Chr1:201069495 [GRCh38]
Chr1:201038623 [GRCh37]
Chr1:1q32.1 |
benign|uncertain significance |
| NM_000069.3(CACNA1S):c.2952G>A (p.Glu984=) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV000551121] |
Chr1:201062045 [GRCh38]
Chr1:201031173 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.4543+4G>A |
single nucleotide variant |
Congenital myopathy 18 [RCV003446123]|Hypokalemic periodic paralysis, type 1 [RCV001857896]|Hypokalemic periodic paralysis, type 1 [RCV002481664]|Hypokalemic periodic paralysis, type 1 [RCV003446120]|Malignant hyperthermia, susceptibility to, 5 [RCV003446121]|Thyrotoxic periodic paralysis, susceptibility to, 1 [RCV003446122]|not specified [RCV000518123] |
Chr1:201047521 [GRCh38]
Chr1:201016649 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.3807C>T (p.Tyr1269=) |
single nucleotide variant |
CACNA1S-related condition [RCV003900231]|Hypokalemic periodic paralysis, type 1 [RCV000548939]|Malignant hyperthermia, susceptibility to, 5 [RCV003517222] |
Chr1:201053263 [GRCh38]
Chr1:201022391 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.3777G>A (p.Thr1259=) |
single nucleotide variant |
CACNA1S-related condition [RCV003935510]|Congenital myopathy 18 [RCV003458462]|Hypokalemic periodic paralysis, type 1 [RCV000543602]|Hypokalemic periodic paralysis, type 1 [RCV002506367]|Hypokalemic periodic paralysis, type 1 [RCV003451208]|Malignant hyperthermia, susceptibility to, 5 [RCV003451209]|Thyrotoxic periodic paralysis, susceptibility to, 1 [RCV003451210]|not provided [RCV001172223]|not specified [RCV000602152] |
Chr1:201053477 [GRCh38]
Chr1:201022605 [GRCh37]
Chr1:1q32.1 |
benign|likely benign |
| NM_000069.3(CACNA1S):c.3157G>A (p.Ala1053Thr) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV000804634]|not provided [RCV000722455] |
Chr1:201061365 [GRCh38]
Chr1:201030493 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.1492C>T (p.Arg498Cys) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV001241845]|not provided [RCV003487271]|not specified [RCV000518320] |
Chr1:201078006 [GRCh38]
Chr1:201047134 [GRCh37]
Chr1:1q32.1 |
likely benign|uncertain significance |
| NM_000069.3(CACNA1S):c.3525+7del |
deletion |
Congenital myopathy 18 [RCV003446119]|Hypokalemic periodic paralysis, type 1 [RCV000651245]|Hypokalemic periodic paralysis, type 1 [RCV002490879]|Hypokalemic periodic paralysis, type 1 [RCV003446116]|Malignant hyperthermia, susceptibility to, 5 [RCV003446117]|Thyrotoxic periodic paralysis, susceptibility to, 1 [RCV003446118]|not provided [RCV003311834]|not specified [RCV000517157] |
Chr1:201059182 [GRCh38]
Chr1:201028310 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.1502G>T (p.Cys501Phe) |
single nucleotide variant |
not specified [RCV000517464] |
Chr1:201077996 [GRCh38]
Chr1:201047124 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.1852T>G (p.Ser618Ala) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV000532209] |
Chr1:201075591 [GRCh38]
Chr1:201044719 [GRCh37]
Chr1:1q32.1 |
likely benign|uncertain significance |
| NM_000069.3(CACNA1S):c.4915G>A (p.Glu1639Lys) |
single nucleotide variant |
Congenital myopathy 18 [RCV003458447]|Hypokalemic periodic paralysis, type 1 [RCV001851426]|Hypokalemic periodic paralysis, type 1 [RCV003449471]|Malignant hyperthermia, susceptibility to, 5 [RCV003449472]|Thyrotoxic periodic paralysis, susceptibility to, 1 [RCV003449473]|not specified [RCV000517856] |
Chr1:201043414 [GRCh38]
Chr1:201012542 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.5299C>A (p.Pro1767Thr) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV001096065]|Hypokalemic periodic paralysis, type 1 [RCV001257060]|Malignant hyperthermia, susceptibility to, 5 [RCV003517223]|not provided [RCV000544824] |
Chr1:201040302 [GRCh38]
Chr1:201009430 [GRCh37]
Chr1:1q32.1 |
benign|likely benign|conflicting interpretations of pathogenicity |
| NM_000069.3(CACNA1S):c.707C>A (p.Thr236Lys) |
single nucleotide variant |
not provided [RCV000523667] |
Chr1:201089451 [GRCh38]
Chr1:201058579 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.1582C>G (p.Arg528Gly) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV000020093] |
Chr1:201077916 [GRCh38]
Chr1:201047044 [GRCh37]
Chr1:1q32.1 |
pathogenic|not provided |
| NM_000069.3(CACNA1S):c.3256C>T (p.Arg1086Cys) |
single nucleotide variant |
Congenital myopathy 18 [RCV003458338]|Hypokalemic periodic paralysis [RCV000148445]|Hypokalemic periodic paralysis, type 1 [RCV000540523]|Hypokalemic periodic paralysis, type 1 [RCV002504813]|Hypokalemic periodic paralysis, type 1 [RCV003447478]|Malignant hyperthermia, susceptibility to, 5 [RCV003450647]|Thyrotoxic periodic paralysis, susceptibility to, 1 [RCV003450648]|not provided [RCV000761690]|not specified [RCV003323363] |
Chr1:201060816 [GRCh38]
Chr1:201029944 [GRCh37]
Chr1:1q32.1 |
pathogenic|uncertain significance |
| NM_000069.3(CACNA1S):c.3256C>A (p.Arg1086Ser) |
single nucleotide variant |
not provided [RCV000144372] |
Chr1:201060816 [GRCh38]
Chr1:201029944 [GRCh37]
Chr1:1q32.1 |
likely pathogenic|not provided |
| NM_000069.3(CACNA1S):c.3716G>A (p.Arg1239His) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV000019190]|Hypokalemic periodic paralysis, type 1 [RCV000627793]|Malignant hyperthermia, susceptibility to, 5 [RCV003450645]|not provided [RCV000414086] |
Chr1:201053538 [GRCh38]
Chr1:201022666 [GRCh37]
Chr1:1q32.1 |
pathogenic |
| NM_000069.3(CACNA1S):c.3715C>G (p.Arg1239Gly) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV000019191]|Hypokalemic periodic paralysis, type 1 [RCV000693727]|Malignant hyperthermia, susceptibility to, 5 [RCV003450646]|not provided [RCV000518061] |
Chr1:201053539 [GRCh38]
Chr1:201022667 [GRCh37]
Chr1:1q32.1 |
pathogenic |
| NM_000069.3(CACNA1S):c.1583G>A (p.Arg528His) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV000019192]|Hypokalemic periodic paralysis, type 1 [RCV000627794]|Hypokalemic periodic paralysis, type 1 [RCV002504808]|not provided [RCV000414449] |
Chr1:201077915 [GRCh38]
Chr1:201047043 [GRCh37]
Chr1:1q32.1 |
pathogenic |
| NM_000069.3(CACNA1S):c.3257G>A (p.Arg1086His) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV001851936]|Malignant hyperthermia, susceptibility to, 5 [RCV000019193]|desflurane response - Toxicity [RCV003227606]|enflurane response - Toxicity [RCV001787808]|halothane response - Toxicity [RCV001787809]|isoflurane response - Toxicity [RCV001787810]|methoxyflurane response - Toxicity [RCV001787811]|not provided [RCV001753422]|sevoflurane response - Toxicity [RCV001787812]|succinylcholine response - Toxicity [RCV001787813] |
Chr1:201060815 [GRCh38]
Chr1:201029943 [GRCh37]
Chr1:1q32.1 |
pathogenic|risk factor|drug response |
| NM_000069.2(CACNA1S):c.-476G>A |
single nucleotide variant |
Thyrotoxic periodic paralysis, susceptibility to, 1 [RCV000019194]|not provided [RCV000830431] |
Chr1:201112815 [GRCh38]
Chr1:201081943 [GRCh37]
Chr1:1q32.1 |
risk factor|benign |
| NM_000069.3(CACNA1S):c.258+57G>A |
single nucleotide variant |
Thyrotoxic periodic paralysis, susceptibility to, 1 [RCV000019195]|not provided [RCV000839816] |
Chr1:201110107 [GRCh38]
Chr1:201079235 [GRCh37]
Chr1:1q32.1 |
risk factor|benign |
| NM_000069.3(CACNA1S):c.3414+67A>G |
single nucleotide variant |
Thyrotoxic periodic paralysis, susceptibility to, 1 [RCV000019196] |
Chr1:201060591 [GRCh38]
Chr1:201029719 [GRCh37]
Chr1:1q32.1 |
risk factor |
| NM_000069.3(CACNA1S):c.2691G>T (p.Arg897Ser) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV000019197]|Hypokalemic periodic paralysis, type 1 [RCV000822757]|not specified [RCV000455686] |
Chr1:201066283 [GRCh38]
Chr1:201035411 [GRCh37]
Chr1:1q32.1 |
pathogenic|uncertain significance |
| NM_000069.3(CACNA1S):c.2627T>A (p.Val876Glu) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV000019198] |
Chr1:201066917 [GRCh38]
Chr1:201036045 [GRCh37]
Chr1:1q32.1 |
pathogenic|likely pathogenic |
| NM_000069.3(CACNA1S):c.4419G>C (p.Thr1473=) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV001514839] |
Chr1:201048604 [GRCh38]
Chr1:201017732 [GRCh37]
Chr1:1q32.1 |
benign |
| NM_000069.3(CACNA1S):c.4679G>T (p.Arg1560Leu) |
single nucleotide variant |
not provided [RCV000722261] |
Chr1:201044446 [GRCh38]
Chr1:201013574 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.1664C>G (p.Ser555Cys) |
single nucleotide variant |
not provided [RCV000722529] |
Chr1:201077083 [GRCh38]
Chr1:201046211 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.2690G>A (p.Arg897Lys) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV000545029] |
Chr1:201066284 [GRCh38]
Chr1:201035412 [GRCh37]
Chr1:1q32.1 |
pathogenic|uncertain significance |
| NM_000069.3(CACNA1S):c.4081T>C (p.Phe1361Leu) |
single nucleotide variant |
not provided [RCV000723227] |
Chr1:201051016 [GRCh38]
Chr1:201020144 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.2259G>A (p.Pro753=) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV001519130] |
Chr1:201070373 [GRCh38]
Chr1:201039501 [GRCh37]
Chr1:1q32.1 |
benign |
| NM_000069.3(CACNA1S):c.1704C>A (p.Leu568=) |
single nucleotide variant |
Congenital myopathy 18 [RCV003458455]|Hypokalemic periodic paralysis, type 1 [RCV000542453]|Hypokalemic periodic paralysis, type 1 [RCV003451193]|Malignant hyperthermia, susceptibility to, 5 [RCV003451194]|Thyrotoxic periodic paralysis, susceptibility to, 1 [RCV003451195]|not provided [RCV001200560] |
Chr1:201077043 [GRCh38]
Chr1:201046171 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.2748C>G (p.His916Gln) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV000132734] |
Chr1:201065943 [GRCh38]
Chr1:201035071 [GRCh37]
Chr1:1q32.1 |
pathogenic |
| NM_000069.3(CACNA1S):c.1091G>A (p.Arg364Gln) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV000529687]|Hypokalemic periodic paralysis, type 1 [RCV002483486]|not provided [RCV001584331] |
Chr1:201085495 [GRCh38]
Chr1:201054623 [GRCh37]
Chr1:1q32.1 |
likely benign|uncertain significance |
| NM_000069.3(CACNA1S):c.5248A>G (p.Met1750Val) |
single nucleotide variant |
Congenital myopathy 18 [RCV003458452]|Hypokalemic periodic paralysis, type 1 [RCV002497035]|Hypokalemic periodic paralysis, type 1 [RCV003449498]|Malignant hyperthermia, susceptibility to, 5 [RCV003449499]|Thyrotoxic periodic paralysis, susceptibility to, 1 [RCV003449500]|not provided [RCV000519320] |
Chr1:201040353 [GRCh38]
Chr1:201009481 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.3177C>T (p.Ile1059=) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV000547794] |
Chr1:201061345 [GRCh38]
Chr1:201030473 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.1890G>A (p.Pro630=) |
single nucleotide variant |
Congenital myopathy 18 [RCV003458456]|Hypokalemic periodic paralysis, type 1 [RCV000544685]|Hypokalemic periodic paralysis, type 1 [RCV001096377]|Hypokalemic periodic paralysis, type 1 [RCV002491093]|Malignant hyperthermia, susceptibility to, 5 [RCV003456091]|Thyrotoxic periodic paralysis, susceptibility to, 1 [RCV003456092]|not provided [RCV001541570]|not specified [RCV001662588] |
Chr1:201075553 [GRCh38]
Chr1:201044681 [GRCh37]
Chr1:1q32.1 |
benign|likely benign |
| NM_000069.3(CACNA1S):c.460A>G (p.Ser154Gly) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV000526070] |
Chr1:201092053 [GRCh38]
Chr1:201061181 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.5370+10G>A |
single nucleotide variant |
CACNA1S-related condition [RCV003952847]|Congenital myopathy 18 [RCV003446154]|Hypokalemic periodic paralysis, type 1 [RCV000546107]|Hypokalemic periodic paralysis, type 1 [RCV001096064]|Hypokalemic periodic paralysis, type 1 [RCV002497185]|Malignant hyperthermia, susceptibility to, 5 [RCV003446152]|Thyrotoxic periodic paralysis, susceptibility to, 1 [RCV003446153]|not specified [RCV000607751] |
Chr1:201040221 [GRCh38]
Chr1:201009349 [GRCh37]
Chr1:1q32.1 |
benign|likely benign |
| NM_000069.3(CACNA1S):c.4995C>T (p.Asn1665=) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV000552060] |
Chr1:201043334 [GRCh38]
Chr1:201012462 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.2187C>T (p.Val729=) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV000547968] |
Chr1:201072795 [GRCh38]
Chr1:201041923 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.2381G>A (p.Arg794His) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV001225189]|not provided [RCV000519296] |
Chr1:201069581 [GRCh38]
Chr1:201038709 [GRCh37]
Chr1:1q32.1 |
likely benign|uncertain significance |
| GRCh38/hg38 1q31.1-42.11(chr1:187143981-224299417)x3 |
copy number gain |
See cases [RCV000051857] |
Chr1:187143981..224299417 [GRCh38]
Chr1:187113113..224487119 [GRCh37]
Chr1:185379736..222553742 [NCBI36]
Chr1:1q31.1-42.11 |
pathogenic |
| NM_000069.2(CACNA1S):c.3316C>T (p.Pro1106Ser) |
single nucleotide variant |
Malignant melanoma [RCV000064443] |
Chr1:201060756 [GRCh38]
Chr1:201029884 [GRCh37]
Chr1:199296507 [NCBI36]
Chr1:1q32.1 |
not provided |
| NM_000069.2(CACNA1S):c.3315C>T (p.Asn1105=) |
single nucleotide variant |
Malignant melanoma [RCV000064444] |
Chr1:201060757 [GRCh38]
Chr1:201029885 [GRCh37]
Chr1:199296508 [NCBI36]
Chr1:1q32.1 |
not provided |
| NM_000069.3(CACNA1S):c.2415C>T (p.Ile805=) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV001443441] |
Chr1:201069547 [GRCh38]
Chr1:201038675 [GRCh37]
Chr1:199305298 [NCBI36]
Chr1:1q32.1 |
likely benign|not provided |
| NM_000069.2(CACNA1S):c.2238G>A (p.Glu746=) |
single nucleotide variant |
Malignant melanoma [RCV000064446] |
Chr1:201070394 [GRCh38]
Chr1:201039522 [GRCh37]
Chr1:199306145 [NCBI36]
Chr1:1q32.1 |
not provided |
| NM_000069.2(CACNA1S):c.2230G>A (p.Asp744Asn) |
single nucleotide variant |
Malignant melanoma [RCV000064447] |
Chr1:201070402 [GRCh38]
Chr1:201039530 [GRCh37]
Chr1:199306153 [NCBI36]
Chr1:1q32.1 |
not provided |
| NM_000069.3(CACNA1S):c.3189C>T (p.Phe1063=) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV000344251]|Hypokalemic periodic paralysis, type 1 [RCV000874413]|not specified [RCV000516744] |
Chr1:201061333 [GRCh38]
Chr1:201030461 [GRCh37]
Chr1:199297084 [NCBI36]
Chr1:1q32.1 |
benign|likely benign|uncertain significance|not provided |
| NM_000069.3(CACNA1S):c.4523A>G (p.Gln1508Arg) |
single nucleotide variant |
not provided [RCV002292751] |
Chr1:201047545 [GRCh38]
Chr1:201016673 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.4797+1G>A |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV003789617] |
Chr1:201044327 [GRCh38]
Chr1:201013455 [GRCh37]
Chr1:1q32.1 |
pathogenic|likely pathogenic |
| NM_000069.3(CACNA1S):c.4060A>T (p.Thr1354Ser) |
single nucleotide variant |
CACNA1S-related condition [RCV003917462]|Hypokalemic periodic paralysis, type 1 [RCV001081599]|Malignant hyperthermia, susceptibility to, 1 [RCV000148444]|Malignant hyperthermia, susceptibility to, 5 [RCV002225085]|not provided [RCV000586717]|not specified [RCV000181043] |
Chr1:201051037 [GRCh38]
Chr1:201020165 [GRCh37]
Chr1:1q32.1 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000069.3(CACNA1S):c.3026C>T (p.Thr1009Met) |
single nucleotide variant |
Congenital myopathy 18 [RCV003458389]|Hypokalemic periodic paralysis, type 1 [RCV001244978]|Hypokalemic periodic paralysis, type 1 [RCV003454772]|Malignant hyperthermia, susceptibility to, 5 [RCV003456038]|Thyrotoxic periodic paralysis, susceptibility to, 1 [RCV003456039]|not provided [RCV000256101] |
Chr1:201061971 [GRCh38]
Chr1:201031099 [GRCh37]
Chr1:1q32.1 |
pathogenic|uncertain significance |
| NM_000069.3(CACNA1S):c.4295C>T (p.Pro1432Leu) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV001348941] |
Chr1:201049046 [GRCh38]
Chr1:201018174 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.4615C>T (p.Arg1539Cys) |
single nucleotide variant |
Congenital myopathy 18 [RCV003458349]|Hypokalemic periodic paralysis, type 1 [RCV000261312]|Hypokalemic periodic paralysis, type 1 [RCV001521361]|Malignant hyperthermia, susceptibility to, 5 [RCV003454453]|Thyrotoxic periodic paralysis, susceptibility to, 1 [RCV003454454]|not provided [RCV000711147]|not specified [RCV000177926] |
Chr1:201047168 [GRCh38]
Chr1:201016296 [GRCh37]
Chr1:1q32.1 |
benign |
| NM_000069.3(CACNA1S):c.1232+142C>T |
single nucleotide variant |
not provided [RCV001545335] |
Chr1:201084808 [GRCh38]
Chr1:201053936 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.3256-12T>A |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV002573192]|not provided [RCV001565331] |
Chr1:201060828 [GRCh38]
Chr1:201029956 [GRCh37]
Chr1:1q32.1 |
likely benign|uncertain significance |
| NM_000069.3(CACNA1S):c.2907-89T>G |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV001554667]|not provided [RCV001655902] |
Chr1:201062179 [GRCh38]
Chr1:201031307 [GRCh37]
Chr1:1q32.1 |
benign |
| GRCh38/hg38 1q32.1(chr1:200144603-203112078)x1 |
copy number loss |
See cases [RCV000133625] |
Chr1:200144603..203112078 [GRCh38]
Chr1:200113731..203081206 [GRCh37]
Chr1:198380354..201347829 [NCBI36]
Chr1:1q32.1 |
pathogenic |
| NM_000069.3(CACNA1S):c.4113+7T>C |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV000390372]|Hypokalemic periodic paralysis, type 1 [RCV001516746]|not provided [RCV000588745]|not specified [RCV000181033] |
Chr1:201050977 [GRCh38]
Chr1:201020105 [GRCh37]
Chr1:1q32.1 |
benign |
| NM_000069.3(CACNA1S):c.2047C>T (p.Arg683Cys) |
single nucleotide variant |
Congenital myopathy 18 [RCV003458350]|Hypokalemic periodic paralysis, type 1 [RCV000402981]|Hypokalemic periodic paralysis, type 1 [RCV001086534]|Malignant hyperthermia of anesthesia [RCV002051686]|Malignant hyperthermia, susceptibility to, 5 [RCV003454477]|Thyrotoxic periodic paralysis, susceptibility to, 1 [RCV003454478]|not provided [RCV000534954]|not specified [RCV000181040] |
Chr1:201074522 [GRCh38]
Chr1:201043650 [GRCh37]
Chr1:1q32.1 |
pathogenic|benign|likely benign |
| NM_000069.3(CACNA1S):c.530C>T (p.Ser177Leu) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV000651228]|Hypokalemic periodic paralysis, type 1 [RCV000755673]|Long QT syndrome [RCV003318365]|Malignant hyperthermia of anesthesia [RCV000210886]|not provided [RCV000996101]|not specified [RCV000455562] |
Chr1:201091983 [GRCh38]
Chr1:201061111 [GRCh37]
Chr1:1q32.1 |
likely pathogenic|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000069.3(CACNA1S):c.1586G>T (p.Cys529Phe) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV003084710] |
Chr1:201077912 [GRCh38]
Chr1:201047040 [GRCh37]
Chr1:1q32.1 |
likely pathogenic|uncertain significance |
| NM_000069.3(CACNA1S):c.5005G>A (p.Ala1669Thr) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV002918364]|Malignant hyperthermia, susceptibility to, 5 [RCV003517439]|not provided [RCV003418637] |
Chr1:201043324 [GRCh38]
Chr1:201012452 [GRCh37]
Chr1:1q32.1 |
likely benign|uncertain significance |
| GRCh37/hg19 1q31.3-42.13(chr1:197811907-228997888)x3 |
copy number gain |
See cases [RCV000240137] |
Chr1:197811907..228997888 [GRCh37]
Chr1:1q31.3-42.13 |
pathogenic |
| NM_000069.3(CACNA1S):c.-68T>C |
single nucleotide variant |
Congenital myopathy 18 [RCV003445875]|Hypokalemic periodic paralysis, type 1 [RCV000263609]|Malignant hyperthermia, susceptibility to, 5 [RCV003445873]|Thyrotoxic periodic paralysis, susceptibility to, 1 [RCV003445874]|not provided [RCV001582915] |
Chr1:201112407 [GRCh38]
Chr1:201081535 [GRCh37]
Chr1:1q32.1 |
benign|likely benign |
| NM_000069.3(CACNA1S):c.3526-2A>G |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV000191067]|Hypokalemic periodic paralysis, type 1 [RCV001376984] |
Chr1:201058493 [GRCh38]
Chr1:201027621 [GRCh37]
Chr1:1q32.1 |
pathogenic|likely pathogenic|uncertain significance |
| NM_000069.3(CACNA1S):c.1629G>T (p.Thr543=) |
single nucleotide variant |
Congenital myopathy 18 [RCV003458414]|Hypokalemic periodic paralysis, type 1 [RCV000292886]|Hypokalemic periodic paralysis, type 1 [RCV000864722]|Malignant hyperthermia, susceptibility to, 5 [RCV003456061]|Thyrotoxic periodic paralysis, susceptibility to, 1 [RCV003456062]|not provided [RCV001200561]|not specified [RCV000617001] |
Chr1:201077118 [GRCh38]
Chr1:201046246 [GRCh37]
Chr1:1q32.1 |
benign|likely benign|uncertain significance |
| NM_000069.3(CACNA1S):c.2594G>A (p.Arg865His) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV000329590]|Hypokalemic periodic paralysis, type 1 [RCV000867936]|not provided [RCV003221891] |
Chr1:201066950 [GRCh38]
Chr1:201036078 [GRCh37]
Chr1:1q32.1 |
benign|likely benign|uncertain significance |
| NM_000069.3(CACNA1S):c.2877C>T (p.Asp959=) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV000295985]|Hypokalemic periodic paralysis, type 1 [RCV000865777] |
Chr1:201062491 [GRCh38]
Chr1:201031619 [GRCh37]
Chr1:1q32.1 |
likely benign|uncertain significance |
| NM_000069.3(CACNA1S):c.889G>A (p.Val297Ile) |
single nucleotide variant |
Congenital myopathy 18 [RCV003458419]|Hypokalemic periodic paralysis, type 1 [RCV000296457]|Hypokalemic periodic paralysis, type 1 [RCV000811152]|Malignant hyperthermia, susceptibility to, 5 [RCV003454912]|Thyrotoxic periodic paralysis, susceptibility to, 1 [RCV003454913] |
Chr1:201089269 [GRCh38]
Chr1:201058397 [GRCh37]
Chr1:1q32.1 |
likely benign|uncertain significance |
| NM_000069.3(CACNA1S):c.2440G>A (p.Ala814Thr) |
single nucleotide variant |
CACNA1S-related condition [RCV003957539]|Hypokalemic periodic paralysis, type 1 [RCV000397662]|Hypokalemic periodic paralysis, type 1 [RCV001081318]|Malignant hyperthermia, susceptibility to, 5 [RCV003517181]|not provided [RCV000524917]|not specified [RCV001723879] |
Chr1:201069522 [GRCh38]
Chr1:201038650 [GRCh37]
Chr1:1q32.1 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000069.3(CACNA1S):c.4350C>G (p.Gly1450=) |
single nucleotide variant |
Hypokalemic periodic paralysis [RCV000293681]|Malignant hyperthermia of anesthesia [RCV000393364] |
Chr1:201048673 [GRCh38]
Chr1:201017801 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.5515C>T (p.Pro1839Ser) |
single nucleotide variant |
CACNA1S-related condition [RCV003920194]|Congenital myopathy 18 [RCV003458393]|Hypokalemic periodic paralysis, type 1 [RCV000298118]|Hypokalemic periodic paralysis, type 1 [RCV000527639]|Malignant hyperthermia, susceptibility to, 5 [RCV003454868]|Thyrotoxic periodic paralysis, susceptibility to, 1 [RCV003454869]|not provided [RCV001310550]|not specified [RCV000423284] |
Chr1:201039938 [GRCh38]
Chr1:201009066 [GRCh37]
Chr1:1q32.1 |
benign|likely benign |
| NM_000069.3(CACNA1S):c.1745G>C (p.Gly582Ala) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV000299085]|Hypokalemic periodic paralysis, type 1 [RCV000689050]|not provided [RCV001753751] |
Chr1:201077002 [GRCh38]
Chr1:201046130 [GRCh37]
Chr1:1q32.1 |
benign|likely benign|uncertain significance |
| NM_000069.3(CACNA1S):c.695-6del |
deletion |
Hypokalemic periodic paralysis [RCV000363318]|Hypokalemic periodic paralysis, type 1 [RCV001471427]|Malignant hyperthermia of anesthesia [RCV000303966] |
Chr1:201089469 [GRCh38]
Chr1:201058597 [GRCh37]
Chr1:1q32.1 |
likely benign|uncertain significance |
| NM_000069.3(CACNA1S):c.1813A>G (p.Ile605Val) |
single nucleotide variant |
Congenital myopathy 18 [RCV003458411]|Hypokalemic periodic paralysis, type 1 [RCV000300349]|Hypokalemic periodic paralysis, type 1 [RCV001059961]|Malignant hyperthermia, susceptibility to, 5 [RCV003456059]|Thyrotoxic periodic paralysis, susceptibility to, 1 [RCV003456060] |
Chr1:201076934 [GRCh38]
Chr1:201046062 [GRCh37]
Chr1:1q32.1 |
likely benign|uncertain significance |
| NM_000069.3(CACNA1S):c.3796-14C>T |
single nucleotide variant |
Congenital myopathy 18 [RCV003445859]|Hypokalemic periodic paralysis, type 1 [RCV000369141]|Hypokalemic periodic paralysis, type 1 [RCV002059417]|Malignant hyperthermia, susceptibility to, 5 [RCV003445857]|Thyrotoxic periodic paralysis, susceptibility to, 1 [RCV003445858] |
Chr1:201053288 [GRCh38]
Chr1:201022416 [GRCh37]
Chr1:1q32.1 |
benign|likely benign|uncertain significance |
| NM_000069.3(CACNA1S):c.1470G>A (p.Gln490=) |
single nucleotide variant |
Congenital myopathy 18 [RCV003458415]|Hypokalemic periodic paralysis, type 1 [RCV000319792]|Hypokalemic periodic paralysis, type 1 [RCV001434004]|Malignant hyperthermia, susceptibility to, 5 [RCV003454904]|Thyrotoxic periodic paralysis, susceptibility to, 1 [RCV003454905] |
Chr1:201078028 [GRCh38]
Chr1:201047156 [GRCh37]
Chr1:1q32.1 |
benign|likely benign|uncertain significance |
| NM_000069.3(CACNA1S):c.2361-11C>T |
single nucleotide variant |
CACNA1S-related condition [RCV003949978]|Congenital myopathy 18 [RCV003445862]|Hypokalemic periodic paralysis, type 1 [RCV000274878]|Hypokalemic periodic paralysis, type 1 [RCV002059418]|Malignant hyperthermia, susceptibility to, 5 [RCV003445860]|Thyrotoxic periodic paralysis, susceptibility to, 1 [RCV003445861]|not provided [RCV000419035] |
Chr1:201069612 [GRCh38]
Chr1:201038740 [GRCh37]
Chr1:1q32.1 |
benign|likely benign|uncertain significance |
| NM_000069.3(CACNA1S):c.598G>A (p.Ala200Thr) |
single nucleotide variant |
Hypokalemic periodic paralysis [RCV000275090]|Hypokalemic periodic paralysis, type 1 [RCV000704043]|Inborn genetic diseases [RCV002522094]|Malignant hyperthermia of anesthesia [RCV000383532]|not provided [RCV001775757] |
Chr1:201091736 [GRCh38]
Chr1:201060864 [GRCh37]
Chr1:1q32.1 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000069.3(CACNA1S):c.1395C>T (p.Asp465=) |
single nucleotide variant |
Congenital myopathy 18 [RCV003458416]|Hypokalemic periodic paralysis, type 1 [RCV000340802]|Hypokalemic periodic paralysis, type 1 [RCV000535185]|Malignant hyperthermia, susceptibility to, 5 [RCV003454906]|Thyrotoxic periodic paralysis, susceptibility to, 1 [RCV003454907]|not specified [RCV000616868] |
Chr1:201078103 [GRCh38]
Chr1:201047231 [GRCh37]
Chr1:1q32.1 |
benign|likely benign |
| NM_000069.3(CACNA1S):c.3331G>A (p.Val1111Met) |
single nucleotide variant |
Congenital myopathy 18 [RCV003458402]|Hypokalemic periodic paralysis, type 1 [RCV000347908]|Hypokalemic periodic paralysis, type 1 [RCV000863274]|Hypokalemic periodic paralysis, type 1 [RCV002504040]|Malignant hyperthermia, susceptibility to, 5 [RCV003456058]|Thyrotoxic periodic paralysis, susceptibility to, 1 [RCV003454882] |
Chr1:201060741 [GRCh38]
Chr1:201029869 [GRCh37]
Chr1:1q32.1 |
benign|likely benign |
| NM_000069.3(CACNA1S):c.324C>T (p.Tyr108=) |
single nucleotide variant |
Congenital myopathy 18 [RCV003458424]|Hypokalemic periodic paralysis, type 1 [RCV000340058]|Hypokalemic periodic paralysis, type 1 [RCV000863400]|Malignant hyperthermia, susceptibility to, 5 [RCV003454921]|Thyrotoxic periodic paralysis, susceptibility to, 1 [RCV003449016]|not provided [RCV001705443] |
Chr1:201093956 [GRCh38]
Chr1:201063084 [GRCh37]
Chr1:1q32.1 |
benign|likely benign|uncertain significance |
| NM_000069.3(CACNA1S):c.3662A>T (p.Asn1221Ile) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV000262601] |
Chr1:201054509 [GRCh38]
Chr1:201023637 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.369T>C (p.Asn123=) |
single nucleotide variant |
Congenital myopathy 18 [RCV003458421]|Hypokalemic periodic paralysis, type 1 [RCV000277037]|Hypokalemic periodic paralysis, type 1 [RCV000530993]|Malignant hyperthermia, susceptibility to, 5 [RCV003454917]|Thyrotoxic periodic paralysis, susceptibility to, 1 [RCV003454918]|not provided [RCV003417941]|not specified [RCV000425871] |
Chr1:201093911 [GRCh38]
Chr1:201063039 [GRCh37]
Chr1:1q32.1 |
benign|likely benign|uncertain significance |
| NM_000069.3(CACNA1S):c.1493G>T (p.Arg498Leu) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV000277233]|Hypokalemic periodic paralysis, type 1 [RCV000560360]|Inborn genetic diseases [RCV002519032]|Malignant hyperthermia, susceptibility to, 5 [RCV000415659]|not provided [RCV000656816]|not specified [RCV000326557] |
Chr1:201078005 [GRCh38]
Chr1:201047133 [GRCh37]
Chr1:1q32.1 |
benign|likely benign|uncertain significance |
| NM_000069.3(CACNA1S):c.5554G>A (p.Gly1852Arg) |
single nucleotide variant |
Congenital myopathy 18 [RCV003458392]|Hypokalemic periodic paralysis, type 1 [RCV000285611]|Hypokalemic periodic paralysis, type 1 [RCV000651263]|Malignant hyperthermia, susceptibility to, 5 [RCV003456052]|Thyrotoxic periodic paralysis, susceptibility to, 1 [RCV003456053] |
Chr1:201039899 [GRCh38]
Chr1:201009027 [GRCh37]
Chr1:1q32.1 |
benign|likely benign |
| NM_000069.3(CACNA1S):c.1352C>T (p.Ser451Leu) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV000263862]|Hypokalemic periodic paralysis, type 1 [RCV000697995]|Inborn genetic diseases [RCV003165797]|Malignant hyperthermia, susceptibility to, 5 [RCV003517182]|not provided [RCV000484498] |
Chr1:201083203 [GRCh38]
Chr1:201052331 [GRCh37]
Chr1:1q32.1 |
likely benign|uncertain significance |
| NM_000069.3(CACNA1S):c.3628G>A (p.Gly1210Arg) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV000372331]|Hypokalemic periodic paralysis, type 1 [RCV000651218]|not provided [RCV001092293] |
Chr1:201054543 [GRCh38]
Chr1:201023671 [GRCh37]
Chr1:1q32.1 |
benign|likely benign|uncertain significance |
| NM_000069.3(CACNA1S):c.4882C>T (p.Leu1628Phe) |
single nucleotide variant |
Hypokalemic periodic paralysis [RCV000287248]|Hypokalemic periodic paralysis, type 1 [RCV000692277]|Malignant hyperthermia of anesthesia [RCV000379008]|not provided [RCV000711148] |
Chr1:201043447 [GRCh38]
Chr1:201012575 [GRCh37]
Chr1:1q32.1 |
likely benign|uncertain significance |
| NM_000069.3(CACNA1S):c.4954C>T (p.Arg1652Cys) |
single nucleotide variant |
Congenital myopathy 18 [RCV003458396]|Hypokalemic periodic paralysis, type 1 [RCV000264545]|Hypokalemic periodic paralysis, type 1 [RCV000544038]|Malignant hyperthermia, susceptibility to, 5 [RCV003456054]|Thyrotoxic periodic paralysis, susceptibility to, 1 [RCV003456055]|not provided [RCV001092290] |
Chr1:201043375 [GRCh38]
Chr1:201012503 [GRCh37]
Chr1:1q32.1 |
benign|likely benign|uncertain significance |
| NM_000069.3(CACNA1S):c.2100G>A (p.Thr700=) |
single nucleotide variant |
CACNA1S-related condition [RCV003910074]|Hypokalemic periodic paralysis, type 1 [RCV000317251]|Hypokalemic periodic paralysis, type 1 [RCV000651242] |
Chr1:201073606 [GRCh38]
Chr1:201042734 [GRCh37]
Chr1:1q32.1 |
likely benign|uncertain significance |
| NM_000069.3(CACNA1S):c.3861+14G>T |
single nucleotide variant |
Congenital myopathy 18 [RCV003445856]|Hypokalemic periodic paralysis, type 1 [RCV000343116]|Hypokalemic periodic paralysis, type 1 [RCV002059416]|Hypokalemic periodic paralysis, type 1 [RCV002504038]|Malignant hyperthermia, susceptibility to, 5 [RCV003445854]|Thyrotoxic periodic paralysis, susceptibility to, 1 [RCV003445855] |
Chr1:201053195 [GRCh38]
Chr1:201022323 [GRCh37]
Chr1:1q32.1 |
benign|likely benign|uncertain significance |
| NM_000069.3(CACNA1S):c.4437G>A (p.Thr1479=) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV000352167]|Hypokalemic periodic paralysis, type 1 [RCV001447393]|not provided [RCV000994224] |
Chr1:201048586 [GRCh38]
Chr1:201017714 [GRCh37]
Chr1:1q32.1 |
likely benign|uncertain significance |
| NM_000069.3(CACNA1S):c.2692G>A (p.Val898Met) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV000264964] |
Chr1:201066282 [GRCh38]
Chr1:201035410 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.1143C>T (p.Phe381=) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV000324715]|Hypokalemic periodic paralysis, type 1 [RCV000866071]|Hypokalemic periodic paralysis, type 1 [RCV002504041]|not provided [RCV002292504]|not specified [RCV001288112] |
Chr1:201085443 [GRCh38]
Chr1:201054571 [GRCh37]
Chr1:1q32.1 |
benign|likely benign|conflicting interpretations of pathogenicity |
| NM_000069.3(CACNA1S):c.4061C>T (p.Thr1354Ile) |
single nucleotide variant |
Congenital myopathy 18 [RCV003458399]|Hypokalemic periodic paralysis, type 1 [RCV000265223]|Hypokalemic periodic paralysis, type 1 [RCV001233450]|Malignant hyperthermia, susceptibility to, 5 [RCV003454877]|Thyrotoxic periodic paralysis, susceptibility to, 1 [RCV003454878] |
Chr1:201051036 [GRCh38]
Chr1:201020164 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.1881C>T (p.Tyr627=) |
single nucleotide variant |
CACNA1S-related condition [RCV003930220]|Congenital myopathy 18 [RCV003458410]|Hypokalemic periodic paralysis, type 1 [RCV000385096]|Hypokalemic periodic paralysis, type 1 [RCV000892976]|Malignant hyperthermia, susceptibility to, 5 [RCV003454898]|Thyrotoxic periodic paralysis, susceptibility to, 1 [RCV003454899] |
Chr1:201075562 [GRCh38]
Chr1:201044690 [GRCh37]
Chr1:1q32.1 |
benign|likely benign |
| NM_000069.3(CACNA1S):c.1885G>A (p.Gly629Arg) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV000265931]|Hypokalemic periodic paralysis, type 1 [RCV001295829] |
Chr1:201075558 [GRCh38]
Chr1:201044686 [GRCh37]
Chr1:1q32.1 |
likely benign|uncertain significance |
| NM_000069.3(CACNA1S):c.951C>T (p.Leu317=) |
single nucleotide variant |
Congenital myopathy 18 [RCV003458418]|Hypokalemic periodic paralysis, type 1 [RCV000289535]|Hypokalemic periodic paralysis, type 1 [RCV000863825]|Malignant hyperthermia, susceptibility to, 5 [RCV003454910]|Thyrotoxic periodic paralysis, susceptibility to, 1 [RCV003454911]|not provided [RCV001815306] |
Chr1:201087879 [GRCh38]
Chr1:201057007 [GRCh37]
Chr1:1q32.1 |
benign|likely benign|uncertain significance |
| NM_000069.3(CACNA1S):c.2979C>A (p.Ser993Arg) |
single nucleotide variant |
Congenital myopathy 18 [RCV003458406]|Hypokalemic periodic paralysis, type 1 [RCV000290207]|Malignant hyperthermia, susceptibility to, 5 [RCV002221220]|Thyrotoxic periodic paralysis, susceptibility to, 1 [RCV003454890] |
Chr1:201062018 [GRCh38]
Chr1:201031146 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.1945A>C (p.Asn649His) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV000267151]|Hypokalemic periodic paralysis, type 1 [RCV000651225]|Inborn genetic diseases [RCV003298356]|not provided [RCV000994231] |
Chr1:201075498 [GRCh38]
Chr1:201044626 [GRCh37]
Chr1:1q32.1 |
likely benign|uncertain significance |
| NM_000069.3(CACNA1S):c.4818C>T (p.Gly1606=) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV000281287]|Hypokalemic periodic paralysis, type 1 [RCV001850517]|Hypokalemic periodic paralysis, type 1 [RCV002504037] |
Chr1:201043511 [GRCh38]
Chr1:201012639 [GRCh37]
Chr1:1q32.1 |
benign|uncertain significance |
| NM_000069.3(CACNA1S):c.743C>T (p.Thr248Met) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV000357931]|Hypokalemic periodic paralysis, type 1 [RCV000553064]|not provided [RCV000996099] |
Chr1:201089415 [GRCh38]
Chr1:201058543 [GRCh37]
Chr1:1q32.1 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000069.3(CACNA1S):c.4462G>A (p.Glu1488Lys) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV000376799]|Hypokalemic periodic paralysis, type 1 [RCV001463001]|not provided [RCV000554452] |
Chr1:201047606 [GRCh38]
Chr1:201016734 [GRCh37]
Chr1:1q32.1 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000069.3(CACNA1S):c.688G>A (p.Gly230Ser) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV000328916] |
Chr1:201091646 [GRCh38]
Chr1:201060774 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.1670G>A (p.Arg557His) |
single nucleotide variant |
Congenital myopathy 18 [RCV003458413]|Hypokalemic periodic paralysis, type 1 [RCV000332775]|Hypokalemic periodic paralysis, type 1 [RCV000525455]|Malignant hyperthermia, susceptibility to, 5 [RCV003454902]|Thyrotoxic periodic paralysis, susceptibility to, 1 [RCV003454903]|not provided [RCV001711769]|not specified [RCV000421940] |
Chr1:201077077 [GRCh38]
Chr1:201046205 [GRCh37]
Chr1:1q32.1 |
benign|likely benign|conflicting interpretations of pathogenicity |
| NM_000069.3(CACNA1S):c.5008T>A (p.Tyr1670Asn) |
single nucleotide variant |
Congenital myopathy 18 [RCV003458395]|Hypokalemic periodic paralysis, type 1 [RCV000362920]|Hypokalemic periodic paralysis, type 1 [RCV000815102]|Malignant hyperthermia, susceptibility to, 5 [RCV003454872]|Thyrotoxic periodic paralysis, susceptibility to, 1 [RCV003454873] |
Chr1:201043321 [GRCh38]
Chr1:201012449 [GRCh37]
Chr1:1q32.1 |
likely benign|uncertain significance |
| NM_000069.3(CACNA1S):c.356G>C (p.Arg119Pro) |
single nucleotide variant |
Congenital myopathy 18 [RCV003458422]|Hypokalemic periodic paralysis, type 1 [RCV000259222]|Hypokalemic periodic paralysis, type 1 [RCV001313399]|Hypokalemic periodic paralysis, type 1 [RCV002480070]|Malignant hyperthermia, susceptibility to, 5 [RCV003456063]|Thyrotoxic periodic paralysis, susceptibility to, 1 [RCV003456064] |
Chr1:201093924 [GRCh38]
Chr1:201063052 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.4053A>G (p.Thr1351=) |
single nucleotide variant |
Congenital myopathy 18 [RCV003458400]|Hypokalemic periodic paralysis, type 1 [RCV000271390]|Hypokalemic periodic paralysis, type 1 [RCV000529050]|Malignant hyperthermia, susceptibility to, 5 [RCV003454879]|Thyrotoxic periodic paralysis, susceptibility to, 1 [RCV003454880]|not specified [RCV000421538] |
Chr1:201051044 [GRCh38]
Chr1:201020172 [GRCh37]
Chr1:1q32.1 |
benign|likely benign |
| NM_000069.3(CACNA1S):c.3027G>A (p.Thr1009=) |
single nucleotide variant |
Congenital myopathy 18 [RCV003458404]|Hypokalemic periodic paralysis, type 1 [RCV000259670]|Hypokalemic periodic paralysis, type 1 [RCV001053276]|Malignant hyperthermia, susceptibility to, 5 [RCV003454885]|Thyrotoxic periodic paralysis, susceptibility to, 1 [RCV003454886] |
Chr1:201061970 [GRCh38]
Chr1:201031098 [GRCh37]
Chr1:1q32.1 |
benign|likely benign|uncertain significance |
| NM_000069.3(CACNA1S):c.2439C>T (p.Ser813=) |
single nucleotide variant |
CACNA1S-related condition [RCV003982998]|Congenital myopathy 18 [RCV003458409]|Hypokalemic periodic paralysis, type 1 [RCV000365113]|Hypokalemic periodic paralysis, type 1 [RCV001083984]|Malignant hyperthermia, susceptibility to, 5 [RCV003454896]|Thyrotoxic periodic paralysis, susceptibility to, 1 [RCV003454897]|not provided [RCV000553748]|not specified [RCV000601492] |
Chr1:201069523 [GRCh38]
Chr1:201038651 [GRCh37]
Chr1:1q32.1 |
benign|likely benign |
| NM_000069.3(CACNA1S):c.1949-7C>T |
single nucleotide variant |
CACNA1S-related condition [RCV003940101]|Congenital myopathy 18 [RCV003445868]|Hypokalemic periodic paralysis, type 1 [RCV000400031]|Hypokalemic periodic paralysis, type 1 [RCV000545576]|Malignant hyperthermia, susceptibility to, 5 [RCV003445866]|Thyrotoxic periodic paralysis, susceptibility to, 1 [RCV003445867] |
Chr1:201074627 [GRCh38]
Chr1:201043755 [GRCh37]
Chr1:1q32.1 |
benign|likely benign |
| NM_000069.3(CACNA1S):c.152+14C>T |
single nucleotide variant |
Hypokalemic periodic paralysis [RCV000370884]|Hypokalemic periodic paralysis, type 1 [RCV002059420]|Malignant hyperthermia of anesthesia [RCV000397320] |
Chr1:201112174 [GRCh38]
Chr1:201081302 [GRCh37]
Chr1:1q32.1 |
likely benign|uncertain significance |
| NM_000069.3(CACNA1S):c.1996G>A (p.Glu666Lys) |
single nucleotide variant |
Congenital myopathy 18 [RCV003458458]|Hypokalemic periodic paralysis, type 1 [RCV000546221]|Hypokalemic periodic paralysis, type 1 [RCV001336098]|Malignant hyperthermia, susceptibility to, 5 [RCV003456093]|Thyrotoxic periodic paralysis, susceptibility to, 1 [RCV003456094] |
Chr1:201074573 [GRCh38]
Chr1:201043701 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.1547C>T (p.Ser516Leu) |
single nucleotide variant |
CACNA1S-related condition [RCV003907784]|Congenital myopathy 18 [RCV003458355]|Hypokalemic periodic paralysis, type 1 [RCV000366145]|Hypokalemic periodic paralysis, type 1 [RCV001086299]|Malignant hyperthermia of anesthesia [RCV000210890]|Malignant hyperthermia, susceptibility to, 5 [RCV003454557]|Thyrotoxic periodic paralysis, susceptibility to, 1 [RCV003454558]|not provided [RCV000548603] |
Chr1:201077951 [GRCh38]
Chr1:201047079 [GRCh37]
Chr1:1q32.1 |
benign|likely benign |
| NM_000069.3(CACNA1S):c.2992G>A (p.Asp998Asn) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV000320288]|Hypokalemic periodic paralysis, type 1 [RCV001079169]|Malignant hyperthermia of anesthesia [RCV000210902]|Malignant hyperthermia, susceptibility to, 5 [RCV003517149]|not provided [RCV000493592] |
Chr1:201062005 [GRCh38]
Chr1:201031133 [GRCh37]
Chr1:1q32.1 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000069.3(CACNA1S):c.1301T>C (p.Phe434Ser) |
single nucleotide variant |
Congenital myopathy 18 [RCV003458417]|Hypokalemic periodic paralysis, type 1 [RCV000319064]|Hypokalemic periodic paralysis, type 1 [RCV001081524]|Malignant hyperthermia, susceptibility to, 5 [RCV003454908]|Thyrotoxic periodic paralysis, susceptibility to, 1 [RCV003454909]|not provided [RCV000711136] |
Chr1:201083254 [GRCh38]
Chr1:201052382 [GRCh37]
Chr1:1q32.1 |
benign|likely benign|uncertain significance |
| NM_000069.3(CACNA1S):c.345C>T (p.Asp115=) |
single nucleotide variant |
CACNA1S-related condition [RCV003940102]|Congenital myopathy 18 [RCV003458423]|Hypokalemic periodic paralysis, type 1 [RCV000374805]|Hypokalemic periodic paralysis, type 1 [RCV000530082]|Malignant hyperthermia, susceptibility to, 5 [RCV003454919]|Thyrotoxic periodic paralysis, susceptibility to, 1 [RCV003454920]|not provided [RCV001531032]|not specified [RCV000438301] |
Chr1:201093935 [GRCh38]
Chr1:201063063 [GRCh37]
Chr1:1q32.1 |
benign|likely benign|conflicting interpretations of pathogenicity |
| NM_000069.3(CACNA1S):c.1193T>A (p.Leu398Gln) |
single nucleotide variant |
Malignant hyperthermia of anesthesia [RCV002051698] |
Chr1:201084989 [GRCh38]
Chr1:201054117 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.1678G>A (p.Ala560Thr) |
single nucleotide variant |
CACNA1S-related condition [RCV003417940]|Hypokalemic periodic paralysis, type 1 [RCV000381485]|Hypokalemic periodic paralysis, type 1 [RCV001850519] |
Chr1:201077069 [GRCh38]
Chr1:201046197 [GRCh37]
Chr1:1q32.1 |
likely benign|uncertain significance |
| NM_000069.3(CACNA1S):c.1903A>G (p.Met635Val) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV000376805]|Hypokalemic periodic paralysis, type 1 [RCV000552279]|not provided [RCV001705442] |
Chr1:201075540 [GRCh38]
Chr1:201044668 [GRCh37]
Chr1:1q32.1 |
benign|likely benign|uncertain significance |
| NM_000069.3(CACNA1S):c.909T>C (p.Asp303=) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV000325894]|Hypokalemic periodic paralysis, type 1 [RCV001421972] |
Chr1:201087921 [GRCh38]
Chr1:201057049 [GRCh37]
Chr1:1q32.1 |
likely benign|uncertain significance |
| NM_000069.3(CACNA1S):c.2601C>T (p.Tyr867=) |
single nucleotide variant |
CACNA1S-related condition [RCV003930219]|Congenital myopathy 18 [RCV003458408]|Hypokalemic periodic paralysis [RCV000389921]|Hypokalemic periodic paralysis, type 1 [RCV000555269]|Hypokalemic periodic paralysis, type 1 [RCV003454893]|Malignant hyperthermia of anesthesia [RCV000325927]|Malignant hyperthermia, susceptibility to, 5 [RCV003454894]|Thyrotoxic periodic paralysis, susceptibility to, 1 [RCV003454895]|not specified [RCV000610355] |
Chr1:201066943 [GRCh38]
Chr1:201036071 [GRCh37]
Chr1:1q32.1 |
benign|likely benign |
| NM_000069.3(CACNA1S):c.2419C>T (p.Leu807Phe) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV000363836] |
Chr1:201069543 [GRCh38]
Chr1:201038671 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.398+3G>A |
single nucleotide variant |
Hypokalemic periodic paralysis [RCV000397402]|Hypokalemic periodic paralysis, type 1 [RCV000651213]|Malignant hyperthermia of anesthesia [RCV000307110]|Malignant hyperthermia, susceptibility to, 5 [RCV003517183]|not provided [RCV000835462] |
Chr1:201093879 [GRCh38]
Chr1:201063007 [GRCh37]
Chr1:1q32.1 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000069.3(CACNA1S):c.4747G>A (p.Glu1583Lys) |
single nucleotide variant |
CACNA1S-related condition [RCV003940100]|Congenital myopathy 18 [RCV003458397]|Hypokalemic periodic paralysis, type 1 [RCV000364529]|Hypokalemic periodic paralysis, type 1 [RCV000651260]|Malignant hyperthermia, susceptibility to, 5 [RCV003456056]|Thyrotoxic periodic paralysis, susceptibility to, 1 [RCV003454874]|not provided [RCV003326400]|not specified [RCV003235183] |
Chr1:201044378 [GRCh38]
Chr1:201013506 [GRCh37]
Chr1:1q32.1 |
likely benign|uncertain significance |
| NM_000069.3(CACNA1S):c.1948+13G>C |
single nucleotide variant |
Hypokalemic periodic paralysis [RCV000355929]|Hypokalemic periodic paralysis, type 1 [RCV002059419]|Malignant hyperthermia of anesthesia [RCV000311304]|not specified [RCV000418638] |
Chr1:201075482 [GRCh38]
Chr1:201044610 [GRCh37]
Chr1:1q32.1 |
likely benign|uncertain significance |
| NM_000069.3(CACNA1S):c.2784C>T (p.Ile928=) |
single nucleotide variant |
Congenital myopathy 18 [RCV003458407]|Hypokalemic periodic paralysis, type 1 [RCV000393404]|Hypokalemic periodic paralysis, type 1 [RCV001082283]|Malignant hyperthermia, susceptibility to, 5 [RCV003454891]|Thyrotoxic periodic paralysis, susceptibility to, 1 [RCV003454892]|not provided [RCV000558333]|not specified [RCV000439145] |
Chr1:201065907 [GRCh38]
Chr1:201035035 [GRCh37]
Chr1:1q32.1 |
benign|likely benign |
| NM_000069.3(CACNA1S):c.3090C>T (p.Asp1030=) |
single nucleotide variant |
Congenital myopathy 18 [RCV003458403]|Hypokalemic periodic paralysis, type 1 [RCV000367117]|Hypokalemic periodic paralysis, type 1 [RCV003105857]|Malignant hyperthermia, susceptibility to, 5 [RCV003454883]|Thyrotoxic periodic paralysis, susceptibility to, 1 [RCV003454884]|not provided [RCV003884449] |
Chr1:201061432 [GRCh38]
Chr1:201030560 [GRCh37]
Chr1:1q32.1 |
likely benign|uncertain significance |
| NM_000069.3(CACNA1S):c.5510A>C (p.Glu1837Ala) |
single nucleotide variant |
CACNA1S-related condition [RCV003957538]|Hypokalemic periodic paralysis, type 1 [RCV000398256]|Hypokalemic periodic paralysis, type 1 [RCV000551485]|not provided [RCV001571219] |
Chr1:201039943 [GRCh38]
Chr1:201009071 [GRCh37]
Chr1:1q32.1 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000069.3(CACNA1S):c.3904C>T (p.Arg1302Trp) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV000337244]|Hypokalemic periodic paralysis, type 1 [RCV001364039]|not provided [RCV002508209] |
Chr1:201052606 [GRCh38]
Chr1:201021734 [GRCh37]
Chr1:1q32.1 |
likely benign|uncertain significance |
| NM_000069.3(CACNA1S):c.1949-6G>A |
single nucleotide variant |
Congenital myopathy 18 [RCV003445865]|Hypokalemic periodic paralysis, type 1 [RCV000395120]|Hypokalemic periodic paralysis, type 1 [RCV000869582]|Malignant hyperthermia, susceptibility to, 5 [RCV003445863]|Thyrotoxic periodic paralysis, susceptibility to, 1 [RCV003445864]|not provided [RCV001697737] |
Chr1:201074626 [GRCh38]
Chr1:201043754 [GRCh37]
Chr1:1q32.1 |
benign|likely benign|uncertain significance |
| NM_000069.3(CACNA1S):c.4776G>A (p.Ala1592=) |
single nucleotide variant |
CACNA1S-related condition [RCV003977832]|Hypokalemic periodic paralysis, type 1 [RCV000396474]|Hypokalemic periodic paralysis, type 1 [RCV001485565] |
Chr1:201044349 [GRCh38]
Chr1:201013477 [GRCh37]
Chr1:1q32.1 |
likely benign|uncertain significance |
| NM_000069.3(CACNA1S):c.1368G>A (p.Gln456=) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV000397226]|Hypokalemic periodic paralysis, type 1 [RCV001466152] |
Chr1:201083187 [GRCh38]
Chr1:201052315 [GRCh37]
Chr1:1q32.1 |
likely benign|uncertain significance |
| NM_000069.3(CACNA1S):c.2754G>A (p.Val918=) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV000338620]|Hypokalemic periodic paralysis, type 1 [RCV000651248]|not provided [RCV003884450] |
Chr1:201065937 [GRCh38]
Chr1:201035065 [GRCh37]
Chr1:1q32.1 |
likely benign|uncertain significance |
| NM_000069.3(CACNA1S):c.1780C>T (p.Arg594Cys) |
single nucleotide variant |
Congenital myopathy 18 [RCV003458412]|Hypokalemic periodic paralysis, type 1 [RCV000393203]|Hypokalemic periodic paralysis, type 1 [RCV000526657]|Malignant hyperthermia, susceptibility to, 5 [RCV003454900]|Thyrotoxic periodic paralysis, susceptibility to, 1 [RCV003454901] |
Chr1:201076967 [GRCh38]
Chr1:201046095 [GRCh37]
Chr1:1q32.1 |
benign|likely benign |
| NM_000069.3(CACNA1S):c.2957G>A (p.Arg986His) |
single nucleotide variant |
CACNA1S-related condition [RCV003910073]|Hypokalemic periodic paralysis, type 1 [RCV000345175]|Hypokalemic periodic paralysis, type 1 [RCV001241998]|not provided [RCV001705441]|not specified [RCV003401281] |
Chr1:201062040 [GRCh38]
Chr1:201031168 [GRCh37]
Chr1:1q32.1 |
benign|likely benign|uncertain significance |
| NM_000069.3(CACNA1S):c.4546G>C (p.Asp1516His) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV000380331]|Hypokalemic periodic paralysis, type 1 [RCV000810862]|not provided [RCV001356451] |
Chr1:201047237 [GRCh38]
Chr1:201016365 [GRCh37]
Chr1:1q32.1 |
benign|uncertain significance |
| NM_000069.3(CACNA1S):c.3606C>T (p.Ile1202=) |
single nucleotide variant |
Congenital myopathy 18 [RCV003458401]|Hypokalemic periodic paralysis, type 1 [RCV000378090]|Hypokalemic periodic paralysis, type 1 [RCV000864061]|Hypokalemic periodic paralysis, type 1 [RCV002504039]|Malignant hyperthermia, susceptibility to, 5 [RCV003454881]|Thyrotoxic periodic paralysis, susceptibility to, 1 [RCV003456057] |
Chr1:201058411 [GRCh38]
Chr1:201027539 [GRCh37]
Chr1:1q32.1 |
benign|likely benign |
| NM_000069.3(CACNA1S):c.1628C>T (p.Thr543Met) |
single nucleotide variant |
Hypokalemic periodic paralysis [RCV000350182]|Hypokalemic periodic paralysis, type 1 [RCV001850520]|Hypokalemic periodic paralysis, type 1 [RCV002494914]|Malignant hyperthermia of anesthesia [RCV000375261] |
Chr1:201077119 [GRCh38]
Chr1:201046247 [GRCh37]
Chr1:1q32.1 |
likely benign|uncertain significance |
| NM_000069.3(CACNA1S):c.3584T>C (p.Ile1195Thr) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV000546815]|Hypokalemic periodic paralysis, type 1 [RCV002506366]|not provided [RCV003487272] |
Chr1:201058433 [GRCh38]
Chr1:201027561 [GRCh37]
Chr1:1q32.1 |
likely benign|uncertain significance |
| NM_000069.3(CACNA1S):c.4752G>A (p.Leu1584=) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV000351633]|Hypokalemic periodic paralysis, type 1 [RCV000555819] |
Chr1:201044373 [GRCh38]
Chr1:201013501 [GRCh37]
Chr1:1q32.1 |
likely benign|uncertain significance |
| NM_000069.3(CACNA1S):c.4346T>G (p.Val1449Gly) |
single nucleotide variant |
Hypokalemic periodic paralysis [RCV000348547]|Malignant hyperthermia of anesthesia [RCV000398683]|Malignant hyperthermia, susceptibility to, 5 [RCV000415708] |
Chr1:201048677 [GRCh38]
Chr1:201017805 [GRCh37]
Chr1:1q32.1 |
benign|uncertain significance |
| NM_000069.3(CACNA1S):c.4668+19T>C |
single nucleotide variant |
Congenital myopathy 18 [RCV003445795]|Hypokalemic periodic paralysis, type 1 [RCV002057289]|Hypokalemic periodic paralysis, type 1 [RCV003445792]|Malignant hyperthermia, susceptibility to, 5 [RCV003445793]|Thyrotoxic periodic paralysis, susceptibility to, 1 [RCV003445794]|not specified [RCV000243553] |
Chr1:201047096 [GRCh38]
Chr1:201016224 [GRCh37]
Chr1:1q32.1 |
benign|likely benign|conflicting interpretations of pathogenicity |
| NM_000069.3(CACNA1S):c.4973G>A (p.Arg1658His) |
single nucleotide variant |
Congenital myopathy 18 [RCV003458380]|Hypokalemic periodic paralysis, type 1 [RCV000328056]|Hypokalemic periodic paralysis, type 1 [RCV001511069]|Malignant hyperthermia, susceptibility to, 5 [RCV003454753]|Thyrotoxic periodic paralysis, susceptibility to, 1 [RCV003454754]|not specified [RCV000246117] |
Chr1:201043356 [GRCh38]
Chr1:201012484 [GRCh37]
Chr1:1q32.1 |
benign |
| NM_000069.3(CACNA1S):c.3796-11C>T |
single nucleotide variant |
Congenital myopathy 18 [RCV003445776]|Hypokalemic periodic paralysis, type 1 [RCV000269819]|Hypokalemic periodic paralysis, type 1 [RCV002057287]|Malignant hyperthermia, susceptibility to, 5 [RCV003445774]|Thyrotoxic periodic paralysis, susceptibility to, 1 [RCV003445775]|not specified [RCV000250998] |
Chr1:201053285 [GRCh38]
Chr1:201022413 [GRCh37]
Chr1:1q32.1 |
benign|likely benign |
| NM_000069.3(CACNA1S):c.-83C>T |
single nucleotide variant |
Congenital myopathy 18 [RCV003445878]|Hypokalemic periodic paralysis, type 1 [RCV000267685]|Malignant hyperthermia, susceptibility to, 5 [RCV003445876]|Thyrotoxic periodic paralysis, susceptibility to, 1 [RCV003445877]|not provided [RCV000836875] |
Chr1:201112422 [GRCh38]
Chr1:201081550 [GRCh37]
Chr1:1q32.1 |
benign|likely benign |
| NM_000069.3(CACNA1S):c.4309A>C (p.Lys1437Gln) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV000525294] |
Chr1:201049032 [GRCh38]
Chr1:201018160 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.2746-14C>T |
single nucleotide variant |
Congenital myopathy 18 [RCV003445759]|Hypokalemic periodic paralysis, type 1 [RCV000353533]|Hypokalemic periodic paralysis, type 1 [RCV002057284]|Malignant hyperthermia, susceptibility to, 5 [RCV003445757]|Thyrotoxic periodic paralysis, susceptibility to, 1 [RCV003445758]|not specified [RCV000243661] |
Chr1:201065959 [GRCh38]
Chr1:201035087 [GRCh37]
Chr1:1q32.1 |
benign|likely benign |
| NM_000069.3(CACNA1S):c.3822C>T (p.Ile1274=) |
single nucleotide variant |
Congenital myopathy 18 [RCV003458375]|Hypokalemic periodic paralysis, type 1 [RCV000398034]|Hypokalemic periodic paralysis, type 1 [RCV000537101]|Malignant hyperthermia, susceptibility to, 5 [RCV003454743]|Thyrotoxic periodic paralysis, susceptibility to, 1 [RCV003454744]|not provided [RCV000711143]|not specified [RCV000251125] |
Chr1:201053248 [GRCh38]
Chr1:201022376 [GRCh37]
Chr1:1q32.1 |
benign |
| NM_000069.3(CACNA1S):c.2745+14C>T |
single nucleotide variant |
Congenital myopathy 18 [RCV003445756]|Hypokalemic periodic paralysis [RCV000304630]|Hypokalemic periodic paralysis, type 1 [RCV002057283]|Hypokalemic periodic paralysis, type 1 [RCV003445753]|Malignant hyperthermia of anesthesia [RCV000359649]|Malignant hyperthermia, susceptibility to, 5 [RCV003445754]|Thyrotoxic periodic paralysis, susceptibility to, 1 [RCV003445755]|not specified [RCV000253492] |
Chr1:201066215 [GRCh38]
Chr1:201035343 [GRCh37]
Chr1:1q32.1 |
benign|likely benign|conflicting interpretations of pathogenicity |
| NM_000069.3(CACNA1S):c.2906+17G>A |
single nucleotide variant |
Congenital myopathy 18 [RCV003445763]|Hypokalemic periodic paralysis, type 1 [RCV002057285]|Hypokalemic periodic paralysis, type 1 [RCV003445760]|Malignant hyperthermia, susceptibility to, 5 [RCV003445761]|Thyrotoxic periodic paralysis, susceptibility to, 1 [RCV003445762]|not specified [RCV000253547] |
Chr1:201062445 [GRCh38]
Chr1:201031573 [GRCh37]
Chr1:1q32.1 |
benign|likely benign |
| NM_000069.3(CACNA1S):c.*163G>A |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV000274053] |
Chr1:201039668 [GRCh38]
Chr1:201008796 [GRCh37]
Chr1:1q32.1 |
likely benign|uncertain significance |
| NM_000069.3(CACNA1S):c.4350C>A (p.Gly1450=) |
single nucleotide variant |
Congenital myopathy 18 [RCV003458377]|Hypokalemic periodic paralysis, type 1 [RCV001426442]|Hypokalemic periodic paralysis, type 1 [RCV003454747]|Malignant hyperthermia, susceptibility to, 5 [RCV003454748]|Thyrotoxic periodic paralysis, susceptibility to, 1 [RCV003454749]|not specified [RCV000243938] |
Chr1:201048673 [GRCh38]
Chr1:201017801 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.2748C>T (p.His916=) |
single nucleotide variant |
Congenital myopathy 18 [RCV003458372]|Hypokalemic periodic paralysis, type 1 [RCV000298607]|Hypokalemic periodic paralysis, type 1 [RCV000557416]|Malignant hyperthermia, susceptibility to, 5 [RCV003454739]|Thyrotoxic periodic paralysis, susceptibility to, 1 [RCV003454740]|not provided [RCV000711141]|not specified [RCV000248838] |
Chr1:201065943 [GRCh38]
Chr1:201035071 [GRCh37]
Chr1:1q32.1 |
benign |
| NM_000069.3(CACNA1S):c.1817G>A (p.Ser606Asn) |
single nucleotide variant |
CACNA1S-related condition [RCV003891827]|Congenital myopathy 18 [RCV003458364]|Hypokalemic periodic paralysis, type 1 [RCV000349341]|Hypokalemic periodic paralysis, type 1 [RCV001083987]|Malignant hyperthermia, susceptibility to, 5 [RCV003454730]|Thyrotoxic periodic paralysis, susceptibility to, 1 [RCV003454731]|not provided [RCV000711138]|not specified [RCV000248889] |
Chr1:201076930 [GRCh38]
Chr1:201046058 [GRCh37]
Chr1:1q32.1 |
benign|likely benign|conflicting interpretations of pathogenicity |
| NM_000069.3(CACNA1S):c.5079G>A (p.Glu1693=) |
single nucleotide variant |
not specified [RCV000251244] |
Chr1:201041559 [GRCh38]
Chr1:201010687 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.858C>T (p.Tyr286=) |
single nucleotide variant |
Congenital myopathy 18 [RCV003458386]|Hypokalemic periodic paralysis, type 1 [RCV000351425]|Hypokalemic periodic paralysis, type 1 [RCV001085454]|Hypokalemic periodic paralysis, type 1 [RCV002494690]|Malignant hyperthermia, susceptibility to, 5 [RCV003454764]|Thyrotoxic periodic paralysis, susceptibility to, 1 [RCV003454765]|not provided [RCV000711150]|not specified [RCV000246531] |
Chr1:201089300 [GRCh38]
Chr1:201058428 [GRCh37]
Chr1:1q32.1 |
benign|likely benign |
| NM_000069.3(CACNA1S):c.773G>A (p.Gly258Asp) |
single nucleotide variant |
Congenital myopathy 18 [RCV003458385]|Hypokalemic periodic paralysis, type 1 [RCV000297672]|Hypokalemic periodic paralysis, type 1 [RCV001082411]|Malignant hyperthermia, susceptibility to, 5 [RCV003456032]|Thyrotoxic periodic paralysis, susceptibility to, 1 [RCV003456033]|not provided [RCV000711149]|not specified [RCV000241734] |
Chr1:201089385 [GRCh38]
Chr1:201058513 [GRCh37]
Chr1:1q32.1 |
benign|likely benign|conflicting interpretations of pathogenicity |
| NM_000069.3(CACNA1S):c.3953+7G>A |
single nucleotide variant |
Congenital myopathy 18 [RCV003445785]|Hypokalemic periodic paralysis, type 1 [RCV000331621]|Hypokalemic periodic paralysis, type 1 [RCV001085077]|Malignant hyperthermia, susceptibility to, 5 [RCV003445783]|Thyrotoxic periodic paralysis, susceptibility to, 1 [RCV003445784]|not provided [RCV000550497]|not specified [RCV000244234] |
Chr1:201052550 [GRCh38]
Chr1:201021678 [GRCh37]
Chr1:1q32.1 |
benign|likely benign|conflicting interpretations of pathogenicity |
| NM_000069.3(CACNA1S):c.1458G>A (p.Leu486=) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV000372195]|Hypokalemic periodic paralysis, type 1 [RCV000863576]|Hypokalemic periodic paralysis, type 1 [RCV002500845]|not provided [RCV003332158]|not specified [RCV000246687] |
Chr1:201078040 [GRCh38]
Chr1:201047168 [GRCh37]
Chr1:1q32.1 |
likely benign|uncertain significance |
| NM_000069.3(CACNA1S):c.2673C>T (p.Ser891=) |
single nucleotide variant |
Congenital myopathy 18 [RCV003458371]|Hypokalemic periodic paralysis, type 1 [RCV000270922]|Hypokalemic periodic paralysis, type 1 [RCV000532277]|Malignant hyperthermia, susceptibility to, 5 [RCV003456025]|Thyrotoxic periodic paralysis, susceptibility to, 1 [RCV003456026]|not provided [RCV000711140]|not specified [RCV000249118] |
Chr1:201066301 [GRCh38]
Chr1:201035429 [GRCh37]
Chr1:1q32.1 |
benign |
| NM_000069.3(CACNA1S):c.1491C>T (p.Asn497=) |
single nucleotide variant |
Congenital myopathy 18 [RCV003458359]|Hypokalemic periodic paralysis, type 1 [RCV000368331]|Hypokalemic periodic paralysis, type 1 [RCV000576423]|Malignant hyperthermia, susceptibility to, 5 [RCV003456012]|Thyrotoxic periodic paralysis, susceptibility to, 1 [RCV003456013]|not specified [RCV000251641] |
Chr1:201078007 [GRCh38]
Chr1:201047135 [GRCh37]
Chr1:1q32.1 |
benign |
| NM_000069.3(CACNA1S):c.895T>C (p.Tyr299His) |
single nucleotide variant |
Congenital myopathy 18 [RCV003458387]|Hypokalemic periodic paralysis, type 1 [RCV000290447]|Hypokalemic periodic paralysis, type 1 [RCV001084123]|Malignant hyperthermia, susceptibility to, 5 [RCV003456034]|Thyrotoxic periodic paralysis, susceptibility to, 1 [RCV003456035]|not provided [RCV000514045]|not specified [RCV000251678] |
Chr1:201089263 [GRCh38]
Chr1:201058391 [GRCh37]
Chr1:1q32.1 |
benign|likely benign |
| NM_000069.3(CACNA1S):c.1828-5T>C |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV000345729]|Hypokalemic periodic paralysis, type 1 [RCV001513366]|Hypokalemic periodic paralysis, type 1 [RCV002500846]|Malignant hyperthermia, susceptibility to, 5 [RCV003517153]|not provided [RCV000588286]|not specified [RCV000254042] |
Chr1:201075620 [GRCh38]
Chr1:201044748 [GRCh37]
Chr1:1q32.1 |
benign|likely benign |
| NM_000069.3(CACNA1S):c.5570G>A (p.Ser1857Asn) |
single nucleotide variant |
Congenital myopathy 18 [RCV003458383]|Hypokalemic periodic paralysis, type 1 [RCV000377696]|Hypokalemic periodic paralysis, type 1 [RCV001082997]|Hypokalemic periodic paralysis, type 1 [RCV002500850]|Malignant hyperthermia of anesthesia [RCV002051699]|Malignant hyperthermia, susceptibility to, 5 [RCV003454759]|Thyrotoxic periodic paralysis, susceptibility to, 1 [RCV003454760]|not provided [RCV000755888]|not specified [RCV000241951] |
Chr1:201039883 [GRCh38]
Chr1:201009011 [GRCh37]
Chr1:1q32.1 |
benign|likely benign |
| NM_000069.3(CACNA1S):c.1948+18G>A |
single nucleotide variant |
Congenital myopathy 18 [RCV003445742]|Hypokalemic periodic paralysis, type 1 [RCV002057281]|Hypokalemic periodic paralysis, type 1 [RCV003445739]|Malignant hyperthermia, susceptibility to, 5 [RCV003445740]|Thyrotoxic periodic paralysis, susceptibility to, 1 [RCV003445741]|not specified [RCV000241957] |
Chr1:201075477 [GRCh38]
Chr1:201044605 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.2613G>T (p.Leu871=) |
single nucleotide variant |
Congenital myopathy 18 [RCV003458370]|Hypokalemic periodic paralysis, type 1 [RCV001394380]|Hypokalemic periodic paralysis, type 1 [RCV003454738]|Malignant hyperthermia, susceptibility to, 5 [RCV003456023]|Thyrotoxic periodic paralysis, susceptibility to, 1 [RCV003456024]|not specified [RCV000244344] |
Chr1:201066931 [GRCh38]
Chr1:201036059 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.2063+7G>T |
single nucleotide variant |
Congenital myopathy 18 [RCV003445745]|Hypokalemic periodic paralysis, type 1 [RCV000378785]|Hypokalemic periodic paralysis, type 1 [RCV000551604]|Malignant hyperthermia, susceptibility to, 5 [RCV003445743]|Thyrotoxic periodic paralysis, susceptibility to, 1 [RCV003445744]|not provided [RCV001572987]|not specified [RCV000246825] |
Chr1:201074499 [GRCh38]
Chr1:201043627 [GRCh37]
Chr1:1q32.1 |
benign|likely benign |
| NM_000069.3(CACNA1S):c.1551T>C (p.Gly517=) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV000305536]|Hypokalemic periodic paralysis, type 1 [RCV000576506]|Malignant hyperthermia, susceptibility to, 5 [RCV003517152]|not provided [RCV000586319]|not specified [RCV000249332] |
Chr1:201077947 [GRCh38]
Chr1:201047075 [GRCh37]
Chr1:1q32.1 |
benign |
| NM_000069.3(CACNA1S):c.1393+7C>T |
single nucleotide variant |
Congenital myopathy 18 [RCV003445727]|Hypokalemic periodic paralysis, type 1 [RCV000406348]|Hypokalemic periodic paralysis, type 1 [RCV000559412]|Malignant hyperthermia, susceptibility to, 5 [RCV003445725]|Thyrotoxic periodic paralysis, susceptibility to, 1 [RCV003445726]|not specified [RCV000251750] |
Chr1:201083155 [GRCh38]
Chr1:201052283 [GRCh37]
Chr1:1q32.1 |
benign |
| NM_000069.3(CACNA1S):c.1452C>T (p.Tyr484=) |
single nucleotide variant |
Congenital myopathy 18 [RCV003458358]|Hereditary liability to pressure palsies [RCV001175249]|Hypokalemic periodic paralysis, type 1 [RCV000323150]|Hypokalemic periodic paralysis, type 1 [RCV001083569]|Malignant hyperthermia, susceptibility to, 5 [RCV003454723]|Thyrotoxic periodic paralysis, susceptibility to, 1 [RCV003454724]|not provided [RCV000543109]|not specified [RCV000242090] |
Chr1:201078046 [GRCh38]
Chr1:201047174 [GRCh37]
Chr1:1q32.1 |
benign|likely benign |
| NM_000069.3(CACNA1S):c.1383C>G (p.Thr461=) |
single nucleotide variant |
Congenital myopathy 18 [RCV003458357]|Hypokalemic periodic paralysis, type 1 [RCV001085728]|Hypokalemic periodic paralysis, type 1 [RCV002500844]|Hypokalemic periodic paralysis, type 1 [RCV003456011]|Malignant hyperthermia, susceptibility to, 5 [RCV003454721]|Thyrotoxic periodic paralysis, susceptibility to, 1 [RCV003454722]|not provided [RCV000547004]|not specified [RCV000242177] |
Chr1:201083172 [GRCh38]
Chr1:201052300 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.399-14C>T |
single nucleotide variant |
Congenital myopathy 18 [RCV003445788]|Hypokalemic periodic paralysis, type 1 [RCV000305706]|Hypokalemic periodic paralysis, type 1 [RCV002057288]|Malignant hyperthermia, susceptibility to, 5 [RCV003445786]|Thyrotoxic periodic paralysis, susceptibility to, 1 [RCV003445787]|not provided [RCV003736674]|not specified [RCV000246985] |
Chr1:201092128 [GRCh38]
Chr1:201061256 [GRCh37]
Chr1:1q32.1 |
benign|likely benign |
| NM_000069.3(CACNA1S):c.597C>T (p.Ile199=) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV000389135]|Hypokalemic periodic paralysis, type 1 [RCV001513368]|Malignant hyperthermia, susceptibility to, 5 [RCV003517155]|not provided [RCV000590093]|not specified [RCV000251904] |
Chr1:201091737 [GRCh38]
Chr1:201060865 [GRCh37]
Chr1:1q32.1 |
benign |
| NM_000069.3(CACNA1S):c.4860C>T (p.Pro1620=) |
single nucleotide variant |
Congenital myopathy 18 [RCV003458379]|Hypokalemic periodic paralysis, type 1 [RCV000335360]|Hypokalemic periodic paralysis, type 1 [RCV001513364]|Malignant hyperthermia, susceptibility to, 5 [RCV003454751]|Thyrotoxic periodic paralysis, susceptibility to, 1 [RCV003454752]|not specified [RCV000254312] |
Chr1:201043469 [GRCh38]
Chr1:201012597 [GRCh37]
Chr1:1q32.1 |
benign |
| NM_000069.3(CACNA1S):c.1564C>T (p.Leu522=) |
single nucleotide variant |
Congenital myopathy 18 [RCV003458362]|Hypokalemic periodic paralysis, type 1 [RCV000335825]|Hypokalemic periodic paralysis, type 1 [RCV001513367]|Malignant hyperthermia, susceptibility to, 5 [RCV003454728]|Thyrotoxic periodic paralysis, susceptibility to, 1 [RCV003456016]|not specified [RCV000254329] |
Chr1:201077934 [GRCh38]
Chr1:201047062 [GRCh37]
Chr1:1q32.1 |
benign |
| NM_000069.3(CACNA1S):c.5134+8C>T |
single nucleotide variant |
Congenital myopathy 18 [RCV003445799]|Hypokalemic periodic paralysis, type 1 [RCV000532784]|Hypokalemic periodic paralysis, type 1 [RCV003445796]|Malignant hyperthermia, susceptibility to, 5 [RCV003445797]|Thyrotoxic periodic paralysis, susceptibility to, 1 [RCV003445798]|not specified [RCV000254429] |
Chr1:201041496 [GRCh38]
Chr1:201010624 [GRCh37]
Chr1:1q32.1 |
benign |
| NM_000069.3(CACNA1S):c.2454G>A (p.Ala818=) |
single nucleotide variant |
Congenital myopathy 18 [RCV003458367]|Hypokalemic periodic paralysis, type 1 [RCV000343319]|Hypokalemic periodic paralysis, type 1 [RCV001083305]|Malignant hyperthermia, susceptibility to, 5 [RCV003456021]|Thyrotoxic periodic paralysis, susceptibility to, 1 [RCV003456022]|not provided [RCV000541884]|not specified [RCV000244670] |
Chr1:201069508 [GRCh38]
Chr1:201038636 [GRCh37]
Chr1:1q32.1 |
benign|likely benign |
| NM_000069.3(CACNA1S):c.1548G>A (p.Ser516=) |
single nucleotide variant |
Congenital myopathy 18 [RCV003458361]|Hypokalemic periodic paralysis, type 1 [RCV000339425]|Hypokalemic periodic paralysis, type 1 [RCV000524611]|Malignant hyperthermia, susceptibility to, 5 [RCV003454727]|Thyrotoxic periodic paralysis, susceptibility to, 1 [RCV003456015]|not specified [RCV000244786] |
Chr1:201077950 [GRCh38]
Chr1:201047078 [GRCh37]
Chr1:1q32.1 |
benign|likely benign |
| NM_000069.3(CACNA1S):c.5574C>T (p.Leu1858=) |
single nucleotide variant |
Congenital myopathy 18 [RCV003458384]|Hypokalemic periodic paralysis, type 1 [RCV001458135]|Hypokalemic periodic paralysis, type 1 [RCV003454761]|Malignant hyperthermia, susceptibility to, 5 [RCV003454762]|Thyrotoxic periodic paralysis, susceptibility to, 1 [RCV003454763]|not specified [RCV000247157] |
Chr1:201039879 [GRCh38]
Chr1:201009007 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.1393+16G>A |
single nucleotide variant |
Congenital myopathy 18 [RCV003445724]|Hypokalemic periodic paralysis, type 1 [RCV002057279]|Hypokalemic periodic paralysis, type 1 [RCV003445721]|Malignant hyperthermia, susceptibility to, 5 [RCV003445722]|Thyrotoxic periodic paralysis, susceptibility to, 1 [RCV003445723]|not specified [RCV000247184] |
Chr1:201083146 [GRCh38]
Chr1:201052274 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.3261A>G (p.Gln1087=) |
single nucleotide variant |
Congenital myopathy 18 [RCV003458373]|Hypokalemic periodic paralysis, type 1 [RCV000308056]|Hypokalemic periodic paralysis, type 1 [RCV001083485]|Malignant hyperthermia, susceptibility to, 5 [RCV003456027]|Thyrotoxic periodic paralysis, susceptibility to, 1 [RCV003456028]|not provided [RCV000711142]|not specified [RCV000249689] |
Chr1:201060811 [GRCh38]
Chr1:201029939 [GRCh37]
Chr1:1q32.1 |
benign|likely benign |
| NM_000069.3(CACNA1S):c.252C>T (p.Leu84=) |
single nucleotide variant |
Congenital myopathy 18 [RCV003458369]|Hypokalemic periodic paralysis [RCV000285981]|Hypokalemic periodic paralysis, type 1 [RCV000542830]|Hypokalemic periodic paralysis, type 1 [RCV003454735]|Malignant hyperthermia of anesthesia [RCV000380591]|Malignant hyperthermia, susceptibility to, 5 [RCV003454736]|Thyrotoxic periodic paralysis, susceptibility to, 1 [RCV003454737]|not specified [RCV000252150] |
Chr1:201110170 [GRCh38]
Chr1:201079298 [GRCh37]
Chr1:1q32.1 |
benign|likely benign |
| NM_000069.3(CACNA1S):c.383C>G (p.Thr128Ser) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV000367694]|Hypokalemic periodic paralysis, type 1 [RCV001082151]|Inborn genetic diseases [RCV003165683]|not provided [RCV000711144]|not specified [RCV000242506] |
Chr1:201093897 [GRCh38]
Chr1:201063025 [GRCh37]
Chr1:1q32.1 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000069.3(CACNA1S):c.3053+13T>C |
single nucleotide variant |
Congenital myopathy 18 [RCV003445766]|Hypokalemic periodic paralysis, type 1 [RCV000263066]|Hypokalemic periodic paralysis, type 1 [RCV002055018]|Malignant hyperthermia, susceptibility to, 5 [RCV003445764]|Thyrotoxic periodic paralysis, susceptibility to, 1 [RCV003445765]|not provided [RCV003114416]|not specified [RCV000244931] |
Chr1:201061931 [GRCh38]
Chr1:201031059 [GRCh37]
Chr1:1q32.1 |
benign|likely benign |
| NM_000069.3(CACNA1S):c.394C>A (p.Leu132Met) |
single nucleotide variant |
Congenital myopathy 18 [RCV003458376]|Hypokalemic periodic paralysis, type 1 [RCV000271904]|Hypokalemic periodic paralysis, type 1 [RCV000525852]|Hypokalemic periodic paralysis, type 1 [RCV002500847]|Malignant hyperthermia, susceptibility to, 5 [RCV003454745]|Thyrotoxic periodic paralysis, susceptibility to, 1 [RCV003454746]|not provided [RCV001705325]|not specified [RCV000247290] |
Chr1:201093886 [GRCh38]
Chr1:201063014 [GRCh37]
Chr1:1q32.1 |
benign|likely benign|conflicting interpretations of pathogenicity |
| NM_000069.3(CACNA1S):c.2480T>C (p.Met827Thr) |
single nucleotide variant |
Congenital myopathy 18 [RCV003458368]|Hypokalemic periodic paralysis, type 1 [RCV000335319]|Hypokalemic periodic paralysis, type 1 [RCV001081542]|Malignant hyperthermia, susceptibility to, 5 [RCV003454733]|Thyrotoxic periodic paralysis, susceptibility to, 1 [RCV003454734]|not provided [RCV000530662]|not specified [RCV000247402] |
Chr1:201069482 [GRCh38]
Chr1:201038610 [GRCh37]
Chr1:1q32.1 |
benign|likely benign |
| NM_000069.3(CACNA1S):c.1995C>T (p.Ala665=) |
single nucleotide variant |
Congenital myopathy 18 [RCV003458365]|Hypokalemic periodic paralysis, type 1 [RCV000347584]|Hypokalemic periodic paralysis, type 1 [RCV001079991]|Malignant hyperthermia, susceptibility to, 5 [RCV003456018]|Thyrotoxic periodic paralysis, susceptibility to, 1 [RCV003454732]|not provided [RCV000711139]|not specified [RCV000249871] |
Chr1:201074574 [GRCh38]
Chr1:201043702 [GRCh37]
Chr1:1q32.1 |
benign|likely benign |
| NM_000069.3(CACNA1S):c.3795+3G>A |
single nucleotide variant |
Congenital myopathy 18 [RCV003445773]|Hypokalemic periodic paralysis, type 1 [RCV000374974]|Hypokalemic periodic paralysis, type 1 [RCV001082410]|Malignant hyperthermia, susceptibility to, 5 [RCV003445771]|Thyrotoxic periodic paralysis, susceptibility to, 1 [RCV003445772]|not provided [RCV000560141]|not specified [RCV000245025] |
Chr1:201053456 [GRCh38]
Chr1:201022584 [GRCh37]
Chr1:1q32.1 |
benign|likely benign|conflicting interpretations of pathogenicity |
| NM_000069.3(CACNA1S):c.206C>G (p.Ala69Gly) |
single nucleotide variant |
Congenital myopathy 18 [RCV003458366]|Hypokalemic periodic paralysis, type 1 [RCV000345656]|Hypokalemic periodic paralysis, type 1 [RCV000527882]|Malignant hyperthermia, susceptibility to, 5 [RCV003456019]|Thyrotoxic periodic paralysis, susceptibility to, 1 [RCV003456020]|not provided [RCV001795386]|not specified [RCV000249964] |
Chr1:201110216 [GRCh38]
Chr1:201079344 [GRCh37]
Chr1:1q32.1 |
benign|likely benign |
| NM_000069.3(CACNA1S):c.3953+6C>T |
single nucleotide variant |
Congenital myopathy 18 [RCV003445782]|Hypokalemic periodic paralysis, type 1 [RCV000282400]|Hypokalemic periodic paralysis, type 1 [RCV001082405]|Malignant hyperthermia, susceptibility to, 5 [RCV003445780]|Thyrotoxic periodic paralysis, susceptibility to, 1 [RCV003445781]|not provided [RCV000711145]|not specified [RCV000252452] |
Chr1:201052551 [GRCh38]
Chr1:201021679 [GRCh37]
Chr1:1q32.1 |
benign|likely benign |
| NM_000069.3(CACNA1S):c.5399T>C (p.Leu1800Ser) |
single nucleotide variant |
Congenital myopathy 18 [RCV003458381]|Hypokalemic periodic paralysis, type 1 [RCV000311084]|Hypokalemic periodic paralysis, type 1 [RCV001514823]|Malignant hyperthermia, susceptibility to, 5 [RCV003454755]|Thyrotoxic periodic paralysis, susceptibility to, 1 [RCV003454756]|not specified [RCV000242685] |
Chr1:201040054 [GRCh38]
Chr1:201009182 [GRCh37]
Chr1:1q32.1 |
benign |
| NM_000069.3(CACNA1S):c.3796-9G>A |
single nucleotide variant |
Congenital myopathy 18 [RCV003445779]|Hypokalemic periodic paralysis, type 1 [RCV000309653]|Hypokalemic periodic paralysis, type 1 [RCV000536307]|Malignant hyperthermia, susceptibility to, 5 [RCV003445777]|Thyrotoxic periodic paralysis, susceptibility to, 1 [RCV003445778]|not provided [RCV001812666]|not specified [RCV000242770] |
Chr1:201053283 [GRCh38]
Chr1:201022411 [GRCh37]
Chr1:1q32.1 |
benign|likely benign |
| NM_000069.3(CACNA1S):c.2361-13C>T |
single nucleotide variant |
Congenital myopathy 18 [RCV003445752]|Hypokalemic periodic paralysis, type 1 [RCV000318333]|Hypokalemic periodic paralysis, type 1 [RCV002057282]|Malignant hyperthermia, susceptibility to, 5 [RCV003445750]|Thyrotoxic periodic paralysis, susceptibility to, 1 [RCV003445751]|not provided [RCV001697621]|not specified [RCV000247749] |
Chr1:201069614 [GRCh38]
Chr1:201038742 [GRCh37]
Chr1:1q32.1 |
benign|likely benign|conflicting interpretations of pathogenicity |
| NM_000069.3(CACNA1S):c.1948+10C>T |
single nucleotide variant |
Congenital myopathy 18 [RCV003445738]|Hypokalemic periodic paralysis, type 1 [RCV001414419]|Hypokalemic periodic paralysis, type 1 [RCV003445735]|Malignant hyperthermia, susceptibility to, 5 [RCV003445736]|Thyrotoxic periodic paralysis, susceptibility to, 1 [RCV003445737]|not specified [RCV000250178] |
Chr1:201075485 [GRCh38]
Chr1:201044613 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.5490_5497del (p.Leu1832fs) |
deletion |
Congenital myopathy 18 [RCV003458382]|Hypokalemic periodic paralysis, type 1 [RCV000534323]|Hypokalemic periodic paralysis, type 1 [RCV003456031]|Malignant hyperthermia, susceptibility to, 5 [RCV003454757]|Thyrotoxic periodic paralysis, susceptibility to, 1 [RCV003454758]|not specified [RCV000250183] |
Chr1:201039956..201039963 [GRCh38]
Chr1:201009084..201009091 [GRCh37]
Chr1:1q32.1 |
benign|likely benign|conflicting interpretations of pathogenicity |
| NM_000069.3(CACNA1S):c.2227+15G>A |
single nucleotide variant |
Congenital myopathy 18 [RCV003445749]|Hypokalemic periodic paralysis, type 1 [RCV002055017]|Hypokalemic periodic paralysis, type 1 [RCV003445746]|Malignant hyperthermia, susceptibility to, 5 [RCV003445747]|Thyrotoxic periodic paralysis, susceptibility to, 1 [RCV003445748]|not specified [RCV000242965] |
Chr1:201072740 [GRCh38]
Chr1:201041868 [GRCh37]
Chr1:1q32.1 |
benign |
| NM_000069.3(CACNA1S):c.152+17G>C |
single nucleotide variant |
Congenital myopathy 18 [RCV003445731]|Hypokalemic periodic paralysis, type 1 [RCV002057280]|Hypokalemic periodic paralysis, type 1 [RCV003445728]|Malignant hyperthermia, susceptibility to, 5 [RCV003445729]|Thyrotoxic periodic paralysis, susceptibility to, 1 [RCV003445730]|not provided [RCV003114415]|not specified [RCV000252775] |
Chr1:201112171 [GRCh38]
Chr1:201081299 [GRCh37]
Chr1:1q32.1 |
benign |
| NM_000069.3(CACNA1S):c.1948+19G>A |
single nucleotide variant |
not specified [RCV000245524] |
Chr1:201075476 [GRCh38]
Chr1:201044604 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.1371T>G (p.Pro457=) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV000314241]|Hypokalemic periodic paralysis, type 1 [RCV000576390]|not specified [RCV000245662] |
Chr1:201083184 [GRCh38]
Chr1:201052312 [GRCh37]
Chr1:1q32.1 |
benign |
| NM_000069.3(CACNA1S):c.3811G>A (p.Ala1271Thr) |
single nucleotide variant |
Congenital myopathy 18 [RCV003458374]|Hypokalemic periodic paralysis, type 1 [RCV000358413]|Hypokalemic periodic paralysis, type 1 [RCV000556937]|Malignant hyperthermia, susceptibility to, 5 [RCV003454741]|Thyrotoxic periodic paralysis, susceptibility to, 1 [RCV003454742]|not specified [RCV000247953] |
Chr1:201053259 [GRCh38]
Chr1:201022387 [GRCh37]
Chr1:1q32.1 |
benign|likely benign |
| NM_000069.3(CACNA1S):c.5371-19C>T |
single nucleotide variant |
Congenital myopathy 18 [RCV003445807]|Hypokalemic periodic paralysis, type 1 [RCV002057290]|Hypokalemic periodic paralysis, type 1 [RCV002500849]|Hypokalemic periodic paralysis, type 1 [RCV003445804]|Malignant hyperthermia, susceptibility to, 5 [RCV003445805]|Thyrotoxic periodic paralysis, susceptibility to, 1 [RCV003445806]|not specified [RCV000250506] |
Chr1:201040101 [GRCh38]
Chr1:201009229 [GRCh37]
Chr1:1q32.1 |
benign|likely benign |
| NM_000069.3(CACNA1S):c.2403T>C (p.Phe801=) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV000333904]|Hypokalemic periodic paralysis, type 1 [RCV001513365]|Malignant hyperthermia, susceptibility to, 5 [RCV003517154]|not provided [RCV000589684]|not specified [RCV000252908] |
Chr1:201069559 [GRCh38]
Chr1:201038687 [GRCh37]
Chr1:1q32.1 |
benign |
| NM_000069.3(CACNA1S):c.1506C>T (p.Phe502=) |
single nucleotide variant |
Congenital myopathy 18 [RCV003458360]|Hypokalemic periodic paralysis, type 1 [RCV000651236]|Hypokalemic periodic paralysis, type 1 [RCV003456014]|Malignant hyperthermia, susceptibility to, 5 [RCV003454725]|Thyrotoxic periodic paralysis, susceptibility to, 1 [RCV003454726]|not specified [RCV000243250] |
Chr1:201077992 [GRCh38]
Chr1:201047120 [GRCh37]
Chr1:1q32.1 |
benign|likely benign |
| NM_000069.3(CACNA1S):c.1711G>A (p.Val571Ile) |
single nucleotide variant |
Congenital myopathy 18 [RCV003458363]|Hypokalemic periodic paralysis, type 1 [RCV000271764]|Hypokalemic periodic paralysis, type 1 [RCV001081083]|Inborn genetic diseases [RCV002518562]|Malignant hyperthermia, susceptibility to, 5 [RCV003456017]|Thyrotoxic periodic paralysis, susceptibility to, 1 [RCV003454729]|not provided [RCV000443710]|not specified [RCV000245756] |
Chr1:201077036 [GRCh38]
Chr1:201046164 [GRCh37]
Chr1:1q32.1 |
benign|likely benign|conflicting interpretations of pathogenicity |
| NM_000069.3(CACNA1S):c.5135-7C>T |
single nucleotide variant |
Congenital myopathy 18 [RCV003445803]|Hypokalemic periodic paralysis, type 1 [RCV001446061]|Hypokalemic periodic paralysis, type 1 [RCV002500848]|Hypokalemic periodic paralysis, type 1 [RCV003445800]|Malignant hyperthermia, susceptibility to, 5 [RCV003445801]|Thyrotoxic periodic paralysis, susceptibility to, 1 [RCV003445802]|not specified [RCV000245762] |
Chr1:201040720 [GRCh38]
Chr1:201009848 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.4543+7G>A |
single nucleotide variant |
Congenital myopathy 18 [RCV003445791]|Hypokalemic periodic paralysis, type 1 [RCV000322159]|Hypokalemic periodic paralysis, type 1 [RCV001514824]|Malignant hyperthermia, susceptibility to, 5 [RCV003445789]|Thyrotoxic periodic paralysis, susceptibility to, 1 [RCV003445790]|not specified [RCV000248202] |
Chr1:201047518 [GRCh38]
Chr1:201016646 [GRCh37]
Chr1:1q32.1 |
benign |
| NM_000069.3(CACNA1S):c.1515T>C (p.Cys505=) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV000399670]|Hypokalemic periodic paralysis, type 1 [RCV000576625]|Malignant hyperthermia, susceptibility to, 5 [RCV003517151]|not specified [RCV000248209] |
Chr1:201077983 [GRCh38]
Chr1:201047111 [GRCh37]
Chr1:1q32.1 |
benign |
| NM_000069.3(CACNA1S):c.1373T>A (p.Leu458His) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV000397218]|Hypokalemic periodic paralysis, type 1 [RCV000576602]|not specified [RCV000250616] |
Chr1:201083182 [GRCh38]
Chr1:201052310 [GRCh37]
Chr1:1q32.1 |
benign |
| NM_000069.3(CACNA1S):c.984G>T (p.Leu328=) |
single nucleotide variant |
Congenital myopathy 18 [RCV003458388]|Hypokalemic periodic paralysis, type 1 [RCV001436304]|Hypokalemic periodic paralysis, type 1 [RCV002479956]|Hypokalemic periodic paralysis, type 1 [RCV003456036]|Malignant hyperthermia, susceptibility to, 5 [RCV003454766]|Thyrotoxic periodic paralysis, susceptibility to, 1 [RCV003456037]|not specified [RCV000243477] |
Chr1:201087846 [GRCh38]
Chr1:201056974 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.1948+10C>G |
single nucleotide variant |
Congenital myopathy 18 [RCV003445734]|Hypokalemic periodic paralysis, type 1 [RCV000263528]|Hypokalemic periodic paralysis, type 1 [RCV000532827]|Hypokalemic periodic paralysis, type 1 [RCV002479955]|Malignant hyperthermia, susceptibility to, 5 [RCV003445732]|Thyrotoxic periodic paralysis, susceptibility to, 1 [RCV003445733]|not specified [RCV000245857] |
Chr1:201075485 [GRCh38]
Chr1:201044613 [GRCh37]
Chr1:1q32.1 |
benign|likely benign |
| NM_000069.3(CACNA1S):c.541+9C>T |
single nucleotide variant |
Congenital myopathy 18 [RCV003445810]|Hypokalemic periodic paralysis, type 1 [RCV000294828]|Hypokalemic periodic paralysis, type 1 [RCV000892977]|Malignant hyperthermia, susceptibility to, 5 [RCV003445808]|Thyrotoxic periodic paralysis, susceptibility to, 1 [RCV003445809]|not specified [RCV000245862] |
Chr1:201091963 [GRCh38]
Chr1:201061091 [GRCh37]
Chr1:1q32.1 |
benign|likely benign |
| NM_000069.3(CACNA1S):c.4686T>C (p.Ile1562=) |
single nucleotide variant |
Congenital myopathy 18 [RCV003458378]|Hypokalemic periodic paralysis [RCV000272318]|Hypokalemic periodic paralysis, type 1 [RCV001085702]|Hypokalemic periodic paralysis, type 1 [RCV003456029]|Malignant hyperthermia of anesthesia [RCV000301685]|Malignant hyperthermia, susceptibility to, 5 [RCV003454750]|Thyrotoxic periodic paralysis, susceptibility to, 1 [RCV003456030]|not provided [RCV000538638]|not specified [RCV000248292] |
Chr1:201044439 [GRCh38]
Chr1:201013567 [GRCh37]
Chr1:1q32.1 |
benign|likely benign |
| NM_000069.3(CACNA1S):c.3525+18C>T |
single nucleotide variant |
Congenital myopathy 18 [RCV003445770]|Hypokalemic periodic paralysis, type 1 [RCV002057286]|Hypokalemic periodic paralysis, type 1 [RCV002503923]|Hypokalemic periodic paralysis, type 1 [RCV003445767]|Malignant hyperthermia, susceptibility to, 5 [RCV003445768]|Thyrotoxic periodic paralysis, susceptibility to, 1 [RCV003445769]|not provided [RCV001573469]|not specified [RCV000253240] |
Chr1:201059171 [GRCh38]
Chr1:201028299 [GRCh37]
Chr1:1q32.1 |
benign|likely benign |
| NM_000069.3(CACNA1S):c.-60A>G |
single nucleotide variant |
Congenital myopathy 18 [RCV003445872]|Hypokalemic periodic paralysis [RCV000298767]|Hypokalemic periodic paralysis, type 1 [RCV003445869]|Malignant hyperthermia of anesthesia [RCV000353721]|Malignant hyperthermia, susceptibility to, 5 [RCV003445870]|Thyrotoxic periodic paralysis, susceptibility to, 1 [RCV003445871]|not provided [RCV001546150] |
Chr1:201112399 [GRCh38]
Chr1:201081527 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.2(CACNA1S):c.-140C>T |
single nucleotide variant |
Hypokalemic periodic paralysis [RCV000328432] |
Chr1:201112479 [GRCh38]
Chr1:201081607 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.*310A>T |
single nucleotide variant |
Congenital myopathy 18 [RCV003445850]|Hypokalemic periodic paralysis, type 1 [RCV000358959]|Malignant hyperthermia, susceptibility to, 5 [RCV003445848]|Thyrotoxic periodic paralysis, susceptibility to, 1 [RCV003445849]|not provided [RCV001547786] |
Chr1:201039521 [GRCh38]
Chr1:201008649 [GRCh37]
Chr1:1q32.1 |
benign|likely benign |
| NM_000069.3(CACNA1S):c.*104T>C |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV000287922] |
Chr1:201039727 [GRCh38]
Chr1:201008855 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.*87G>A |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV000291537] |
Chr1:201039744 [GRCh38]
Chr1:201008872 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.2(CACNA1S):c.-110C>T |
single nucleotide variant |
Hypokalemic periodic paralysis [RCV000322732] |
Chr1:201112449 [GRCh38]
Chr1:201081577 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.2(CACNA1S):c.-213G>A |
single nucleotide variant |
Hypokalemic periodic paralysis [RCV000295041] |
Chr1:201112552 [GRCh38]
Chr1:201081680 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.2561A>C (p.Tyr854Ser) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV000282659] |
Chr1:201066983 [GRCh38]
Chr1:201036111 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.*183C>T |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV000261172] |
Chr1:201039648 [GRCh38]
Chr1:201008776 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.3722T>C (p.Met1241Thr) |
single nucleotide variant |
Congenital myopathy 18 [RCV003458391]|Hypokalemic periodic paralysis, type 1 [RCV001859532]|Hypokalemic periodic paralysis, type 1 [RCV003456043]|Malignant hyperthermia, susceptibility to, 5 [RCV003456044]|Thyrotoxic periodic paralysis, susceptibility to, 1 [RCV003456045]|not provided [RCV000388074] |
Chr1:201053532 [GRCh38]
Chr1:201022660 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.5020A>C (p.Asn1674His) |
single nucleotide variant |
Congenital myopathy 18 [RCV003458394]|Hypokalemic periodic paralysis, type 1 [RCV000276011]|Hypokalemic periodic paralysis, type 1 [RCV002502169]|Malignant hyperthermia, susceptibility to, 5 [RCV003454870]|Thyrotoxic periodic paralysis, susceptibility to, 1 [RCV003454871] |
Chr1:201043309 [GRCh38]
Chr1:201012437 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.1725C>T (p.Leu575=) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV000268351] |
Chr1:201077022 [GRCh38]
Chr1:201046150 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.2755C>T (p.Gln919Ter) |
single nucleotide variant |
not provided [RCV000722351] |
Chr1:201065936 [GRCh38]
Chr1:201035064 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.160G>A (p.Glu54Lys) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV003774921]|not provided [RCV002281405] |
Chr1:201110262 [GRCh38]
Chr1:201079390 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.4916A>T (p.Glu1639Val) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV000703733]|Hypokalemic periodic paralysis, type 1 [RCV002506187]|Inborn genetic diseases [RCV002527025]|not provided [RCV000489613] |
Chr1:201043413 [GRCh38]
Chr1:201012541 [GRCh37]
Chr1:1q32.1 |
likely benign|uncertain significance |
| NM_000069.3(CACNA1S):c.3337T>C (p.Tyr1113His) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV000553287] |
Chr1:201060735 [GRCh38]
Chr1:201029863 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.1493G>A (p.Arg498His) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV000697677]|Hypokalemic periodic paralysis, type 1 [RCV001096477]|Inborn genetic diseases [RCV003168987]|not provided [RCV000487733] |
Chr1:201078005 [GRCh38]
Chr1:201047133 [GRCh37]
Chr1:1q32.1 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_000069.3(CACNA1S):c.4242G>A (p.Lys1414=) |
single nucleotide variant |
Congenital myopathy 18 [RCV003458463]|Hypokalemic periodic paralysis, type 1 [RCV000549167]|Hypokalemic periodic paralysis, type 1 [RCV002491095]|Hypokalemic periodic paralysis, type 1 [RCV003456095]|Malignant hyperthermia, susceptibility to, 5 [RCV003451211]|Thyrotoxic periodic paralysis, susceptibility to, 1 [RCV003451212] |
Chr1:201049099 [GRCh38]
Chr1:201018227 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.791_812dup (p.Ile272fs) |
duplication |
not provided [RCV000722858] |
Chr1:201089345..201089346 [GRCh38]
Chr1:201058473..201058474 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.1246C>T (p.Gln416Ter) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV003771745]|not provided [RCV001573974] |
Chr1:201083309 [GRCh38]
Chr1:201052437 [GRCh37]
Chr1:1q32.1 |
pathogenic|uncertain significance |
| NM_000069.3(CACNA1S):c.93G>C (p.Leu31Phe) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV000555155]|Hypokalemic periodic paralysis, type 1 [RCV000765034]|Inborn genetic diseases [RCV003338664]|not provided [RCV002060354] |
Chr1:201112247 [GRCh38]
Chr1:201081375 [GRCh37]
Chr1:1q32.1 |
likely benign|uncertain significance |
| NM_000069.3(CACNA1S):c.1828-54G>C |
single nucleotide variant |
not provided [RCV001567154] |
Chr1:201075669 [GRCh38]
Chr1:201044797 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.514C>A (p.Pro172Thr) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV001341586]|not provided [RCV000722549] |
Chr1:201091999 [GRCh38]
Chr1:201061127 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.772G>A (p.Gly258Ser) |
single nucleotide variant |
Congenital myopathy 18 [RCV003458420]|Hypokalemic periodic paralysis [RCV000393288]|Hypokalemic periodic paralysis, type 1 [RCV002487306]|Hypokalemic periodic paralysis, type 1 [RCV003454914]|Malignant hyperthermia of anesthesia [RCV000303093]|Malignant hyperthermia, susceptibility to, 5 [RCV003454915]|Thyrotoxic periodic paralysis, susceptibility to, 1 [RCV003454916] |
Chr1:201089386 [GRCh38]
Chr1:201058514 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.2407A>G (p.Asn803Asp) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV000796556]|not provided [RCV000520364] |
Chr1:201069555 [GRCh38]
Chr1:201038683 [GRCh37]
Chr1:1q32.1 |
likely benign|uncertain significance |
| NM_000069.3(CACNA1S):c.196G>A (p.Val66Met) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV000346607] |
Chr1:201110226 [GRCh38]
Chr1:201079354 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.3890G>A (p.Gly1297Glu) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV000549714]|Hypokalemic periodic paralysis, type 1 [RCV002476193]|not provided [RCV003223654] |
Chr1:201052620 [GRCh38]
Chr1:201021748 [GRCh37]
Chr1:1q32.1 |
likely benign|uncertain significance |
| NM_000069.3(CACNA1S):c.1583G>T (p.Arg528Leu) |
single nucleotide variant |
CACNA1S-related condition [RCV003419987]|Hypokalemic periodic paralysis, type 1 [RCV000549801]|Hypokalemic periodic paralysis, type 1 [RCV002491092]|Malignant hyperthermia, susceptibility to, 5 [RCV003517221]|not provided [RCV002293456] |
Chr1:201077915 [GRCh38]
Chr1:201047043 [GRCh37]
Chr1:1q32.1 |
likely pathogenic|uncertain significance |
| NM_000069.3(CACNA1S):c.*109G>T |
single nucleotide variant |
Hypokalemic periodic paralysis [RCV000389303]|Malignant hyperthermia of anesthesia [RCV000331406] |
Chr1:201039722 [GRCh38]
Chr1:201008850 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.2(CACNA1S):c.-147C>T |
single nucleotide variant |
Hypokalemic periodic paralysis [RCV000293795] |
Chr1:201112486 [GRCh38]
Chr1:201081614 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.*260T>A |
single nucleotide variant |
Hypokalemic periodic paralysis [RCV000353663]|Malignant hyperthermia of anesthesia [RCV000305907] |
Chr1:201039571 [GRCh38]
Chr1:201008699 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.2(CACNA1S):c.-206C>T |
single nucleotide variant |
Hypokalemic periodic paralysis [RCV000348672] |
Chr1:201112545 [GRCh38]
Chr1:201081673 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.490C>T (p.Leu164Phe) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV001098317]|Hypokalemic periodic paralysis, type 1 [RCV001321210]|Malignant hyperthermia, susceptibility to, 5 [RCV003517214]|not specified [RCV000517318] |
Chr1:201092023 [GRCh38]
Chr1:201061151 [GRCh37]
Chr1:1q32.1 |
likely benign|uncertain significance |
| NM_000069.3(CACNA1S):c.3287G>A (p.Arg1096His) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV000651222]|not provided [RCV001755763]|not specified [RCV000517687] |
Chr1:201060785 [GRCh38]
Chr1:201029913 [GRCh37]
Chr1:1q32.1 |
likely benign|uncertain significance |
| NM_000069.2(CACNA1S):c.-231A>G |
single nucleotide variant |
Congenital myopathy 18 [RCV003445917]|Hypokalemic periodic paralysis [RCV000266662]|Hypokalemic periodic paralysis, type 1 [RCV003445914]|Malignant hyperthermia of anesthesia [RCV000324180]|Malignant hyperthermia, susceptibility to, 5 [RCV003445915]|Thyrotoxic periodic paralysis, susceptibility to, 1 [RCV003445916]|not provided [RCV000839815] |
Chr1:201112570 [GRCh38]
Chr1:201081698 [GRCh37]
Chr1:1q32.1 |
benign |
| NM_000069.3(CACNA1S):c.2994C>A (p.Asp998Glu) |
single nucleotide variant |
Congenital myopathy 18 [RCV003458405]|Hypokalemic periodic paralysis [RCV000324306]|Hypokalemic periodic paralysis, type 1 [RCV001850518]|Hypokalemic periodic paralysis, type 1 [RCV003454887]|Inborn genetic diseases [RCV003165796]|Malignant hyperthermia of anesthesia [RCV000378858]|Malignant hyperthermia, susceptibility to, 5 [RCV003454888]|Thyrotoxic periodic paralysis, susceptibility to, 1 [RCV003454889] |
Chr1:201062003 [GRCh38]
Chr1:201031131 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.399-3T>C |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV000340732] |
Chr1:201092117 [GRCh38]
Chr1:201061245 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.4243G>A (p.Gly1415Arg) |
single nucleotide variant |
Congenital myopathy 18 [RCV003458398]|Hypokalemic periodic paralysis, type 1 [RCV000299742]|Hypokalemic periodic paralysis, type 1 [RCV000792708]|Malignant hyperthermia, susceptibility to, 5 [RCV003454875]|Thyrotoxic periodic paralysis, susceptibility to, 1 [RCV003454876]|not provided [RCV000493654] |
Chr1:201049098 [GRCh38]
Chr1:201018226 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.187G>T (p.Ala63Ser) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV000397333] |
Chr1:201110235 [GRCh38]
Chr1:201079363 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.3970G>A (p.Ala1324Thr) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV000380969] |
Chr1:201051127 [GRCh38]
Chr1:201020255 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.4441+3G>A |
single nucleotide variant |
Congenital myopathy 18 [RCV003445853]|Hypokalemic periodic paralysis, type 1 [RCV000327830]|Hypokalemic periodic paralysis, type 1 [RCV000651214]|Hypokalemic periodic paralysis, type 1 [RCV002480069]|Malignant hyperthermia, susceptibility to, 5 [RCV003445851]|Thyrotoxic periodic paralysis, susceptibility to, 1 [RCV003445852] |
Chr1:201048579 [GRCh38]
Chr1:201017707 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.4679G>A (p.Arg1560Gln) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV001437600]|not provided [RCV001092292] |
Chr1:201044446 [GRCh38]
Chr1:201013574 [GRCh37]
Chr1:1q32.1 |
likely benign|uncertain significance |
| NM_000069.3(CACNA1S):c.4669-11G>A |
single nucleotide variant |
Congenital myopathy 18 [RCV003446623]|Hypokalemic periodic paralysis, type 1 [RCV001099632]|Hypokalemic periodic paralysis, type 1 [RCV002069676]|Hypokalemic periodic paralysis, type 1 [RCV002505676]|Malignant hyperthermia, susceptibility to, 5 [RCV003446621]|Thyrotoxic periodic paralysis, susceptibility to, 1 [RCV003446622]|not provided [RCV001593266] |
Chr1:201044467 [GRCh38]
Chr1:201013595 [GRCh37]
Chr1:1q32.1 |
benign|likely benign |
| NM_000069.3(CACNA1S):c.4501A>G (p.Thr1501Ala) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV001099633]|Hypokalemic periodic paralysis, type 1 [RCV002489743]|Hypokalemic periodic paralysis, type 1 [RCV002554942] |
Chr1:201047567 [GRCh38]
Chr1:201016695 [GRCh37]
Chr1:1q32.1 |
likely benign|uncertain significance |
| NM_000069.3(CACNA1S):c.2767G>C (p.Val923Leu) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV000550197] |
Chr1:201065924 [GRCh38]
Chr1:201035052 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.3419A>G (p.Tyr1140Cys) |
single nucleotide variant |
not provided [RCV000585119] |
Chr1:201059295 [GRCh38]
Chr1:201028423 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.502C>T (p.Arg168Ter) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV000699379]|Hypokalemic periodic paralysis, type 1 [RCV002498880]|Hypokalemic periodic paralysis, type 1 [RCV003456099]|Malignant hyperthermia, susceptibility to, 5 [RCV003451352]|not provided [RCV000599312] |
Chr1:201092011 [GRCh38]
Chr1:201061139 [GRCh37]
Chr1:1q32.1 |
pathogenic|likely pathogenic |
| NM_000069.3(CACNA1S):c.1637G>A (p.Ser546Asn) |
single nucleotide variant |
Congenital myopathy 18 [RCV003458628]|Hypokalemic periodic paralysis, type 1 [RCV001099902]|Hypokalemic periodic paralysis, type 1 [RCV001856354]|Malignant hyperthermia, susceptibility to, 5 [RCV003449553]|Thyrotoxic periodic paralysis, susceptibility to, 1 [RCV003449554]|not provided [RCV003490072] |
Chr1:201077110 [GRCh38]
Chr1:201046238 [GRCh37]
Chr1:1q32.1 |
likely benign|uncertain significance |
| NM_000069.3(CACNA1S):c.5592C>T (p.Ser1864=) |
single nucleotide variant |
Congenital myopathy 18 [RCV003458470]|Hypokalemic periodic paralysis, type 1 [RCV000651239]|Hypokalemic periodic paralysis, type 1 [RCV003456100]|Malignant hyperthermia, susceptibility to, 5 [RCV003451395]|Thyrotoxic periodic paralysis, susceptibility to, 1 [RCV003456101]|not provided [RCV001722656] |
Chr1:201039861 [GRCh38]
Chr1:201008989 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.4114-3C>T |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV001044201]|not provided [RCV001707818] |
Chr1:201050519 [GRCh38]
Chr1:201019647 [GRCh37]
Chr1:1q32.1 |
likely benign|uncertain significance |
| NM_000069.3(CACNA1S):c.2752G>T (p.Val918Leu) |
single nucleotide variant |
not provided [RCV000722352] |
Chr1:201065939 [GRCh38]
Chr1:201035067 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.5620T>C (p.Ter1874Arg) |
single nucleotide variant |
not provided [RCV000723239] |
Chr1:201039833 [GRCh38]
Chr1:201008961 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.2376T>C (p.Cys792=) |
single nucleotide variant |
Congenital myopathy 18 [RCV003458459]|Hypokalemic periodic paralysis, type 1 [RCV000541271]|Hypokalemic periodic paralysis, type 1 [RCV002491094]|Hypokalemic periodic paralysis, type 1 [RCV003451199]|Malignant hyperthermia, susceptibility to, 5 [RCV003451200]|Thyrotoxic periodic paralysis, susceptibility to, 1 [RCV003451201] |
Chr1:201069586 [GRCh38]
Chr1:201038714 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.3111C>A (p.Asn1037Lys) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV000539872] |
Chr1:201061411 [GRCh38]
Chr1:201030539 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.3416A>C (p.His1139Pro) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV003766171]|Malignant hyperthermia, susceptibility to, 5 [RCV000415617]|not provided [RCV001571450] |
Chr1:201059298 [GRCh38]
Chr1:201028426 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.4962C>G (p.Asn1654Lys) |
single nucleotide variant |
Malignant hyperthermia, susceptibility to, 5 [RCV000415664] |
Chr1:201043367 [GRCh38]
Chr1:201012495 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.526G>T (p.Val176Leu) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV002488863]|Malignant hyperthermia, susceptibility to, 5 [RCV000415713] |
Chr1:201091987 [GRCh38]
Chr1:201061115 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.1781G>A (p.Arg594His) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV000538822] |
Chr1:201076966 [GRCh38]
Chr1:201046094 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.404T>C (p.Phe135Ser) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV000539190] |
Chr1:201092109 [GRCh38]
Chr1:201061237 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.2103G>A (p.Met701Ile) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV000535778] |
Chr1:201073603 [GRCh38]
Chr1:201042731 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.2658-9G>A |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV000560720] |
Chr1:201066325 [GRCh38]
Chr1:201035453 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.3954G>C (p.Arg1318Ser) |
single nucleotide variant |
not provided [RCV000722569] |
Chr1:201051143 [GRCh38]
Chr1:201020271 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.3245A>G (p.Asp1082Gly) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV003768168]|not provided [RCV000722394] |
Chr1:201061277 [GRCh38]
Chr1:201030405 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.1503C>A (p.Cys501Ter) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV000536378] |
Chr1:201077995 [GRCh38]
Chr1:201047123 [GRCh37]
Chr1:1q32.1 |
pathogenic|uncertain significance |
| NM_000069.3(CACNA1S):c.3829C>T (p.Leu1277Phe) |
single nucleotide variant |
not provided [RCV000722913] |
Chr1:201053241 [GRCh38]
Chr1:201022369 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.4795C>T (p.Arg1599Trp) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV000531416] |
Chr1:201044330 [GRCh38]
Chr1:201013458 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.1166A>T (p.Asp389Val) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV000699469]|Hypokalemic periodic paralysis, type 1 [RCV002502444]|not provided [RCV000996097]|not specified [RCV000414075] |
Chr1:201085016 [GRCh38]
Chr1:201054144 [GRCh37]
Chr1:1q32.1 |
benign|uncertain significance|no classifications from unflagged records |
| GRCh37/hg19 1q31.3-44(chr1:195483439-249213000)x3 |
copy number gain |
See cases [RCV000449172] |
Chr1:195483439..249213000 [GRCh37]
Chr1:1q31.3-44 |
pathogenic |
| NM_000069.3(CACNA1S):c.2454G>T (p.Ala818=) |
single nucleotide variant |
Congenital myopathy 18 [RCV003458446]|Hypokalemic periodic paralysis, type 1 [RCV000865156]|Hypokalemic periodic paralysis, type 1 [RCV003449468]|Malignant hyperthermia, susceptibility to, 5 [RCV003449469]|Thyrotoxic periodic paralysis, susceptibility to, 1 [RCV003449470]|not provided [RCV003419890]|not specified [RCV000518818] |
Chr1:201069508 [GRCh38]
Chr1:201038636 [GRCh37]
Chr1:1q32.1 |
benign|likely benign |
| NM_000069.3(CACNA1S):c.3844G>T (p.Ala1282Ser) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV001063783]|not provided [RCV000420857] |
Chr1:201053226 [GRCh38]
Chr1:201022354 [GRCh37]
Chr1:1q32.1 |
likely benign|uncertain significance |
| NM_000069.3(CACNA1S):c.3998G>A (p.Ser1333Asn) |
single nucleotide variant |
Congenital myopathy 18 [RCV003458507]|Hypokalemic periodic paralysis, type 1 [RCV000697886]|Hypokalemic periodic paralysis, type 1 [RCV002493212]|Hypokalemic periodic paralysis, type 1 [RCV003456131]|Malignant hyperthermia, susceptibility to, 5 [RCV003453470]|Thyrotoxic periodic paralysis, susceptibility to, 1 [RCV003456132]|not provided [RCV003159155] |
Chr1:201051099 [GRCh38]
Chr1:201020227 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.5227-20C>T |
single nucleotide variant |
Congenital myopathy 18 [RCV003446035]|Hypokalemic periodic paralysis, type 1 [RCV002502572]|Hypokalemic periodic paralysis, type 1 [RCV003446032]|Hypokalemic periodic paralysis, type 1 [RCV003766386]|Malignant hyperthermia, susceptibility to, 5 [RCV003446033]|Thyrotoxic periodic paralysis, susceptibility to, 1 [RCV003446034]|not specified [RCV000417847] |
Chr1:201040394 [GRCh38]
Chr1:201009522 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.2365C>T (p.Arg789Cys) |
single nucleotide variant |
Congenital myopathy 18 [RCV003221977]|Hypokalemic periodic paralysis, type 1 [RCV000807013]|Hypokalemic periodic paralysis, type 1 [RCV003449073]|Malignant hyperthermia, susceptibility to, 5 [RCV003456069]|Thyrotoxic periodic paralysis, susceptibility to, 1 [RCV003456070]|not provided [RCV000427648]|not specified [RCV003387844] |
Chr1:201069597 [GRCh38]
Chr1:201038725 [GRCh37]
Chr1:1q32.1 |
pathogenic|uncertain significance |
| NM_000069.3(CACNA1S):c.3953+14G>A |
single nucleotide variant |
Congenital myopathy 18 [RCV003446012]|Hypokalemic periodic paralysis, type 1 [RCV001096188]|Hypokalemic periodic paralysis, type 1 [RCV002062703]|Hypokalemic periodic paralysis, type 1 [RCV002502535]|Malignant hyperthermia, susceptibility to, 5 [RCV003446010]|Thyrotoxic periodic paralysis, susceptibility to, 1 [RCV003446011]|not specified [RCV000418044] |
Chr1:201052543 [GRCh38]
Chr1:201021671 [GRCh37]
Chr1:1q32.1 |
benign|likely benign |
| NM_000069.3(CACNA1S):c.2835C>T (p.Ile945=) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV001096284]|Hypokalemic periodic paralysis, type 1 [RCV001482700]|not specified [RCV000438310] |
Chr1:201065856 [GRCh38]
Chr1:201034984 [GRCh37]
Chr1:1q32.1 |
likely benign|uncertain significance |
| NM_000069.3(CACNA1S):c.4114-8T>C |
single nucleotide variant |
Congenital myopathy 18 [RCV003446051]|Hypokalemic periodic paralysis, type 1 [RCV001080896]|Hypokalemic periodic paralysis, type 1 [RCV001101611]|Malignant hyperthermia, susceptibility to, 5 [RCV003446049]|Thyrotoxic periodic paralysis, susceptibility to, 1 [RCV003446050]|not provided [RCV000651251]|not specified [RCV000424693] |
Chr1:201050524 [GRCh38]
Chr1:201019652 [GRCh37]
Chr1:1q32.1 |
benign|likely benign |
| NM_000069.3(CACNA1S):c.915C>T (p.Ile305=) |
single nucleotide variant |
Congenital myopathy 18 [RCV003458431]|Hypokalemic periodic paralysis, type 1 [RCV001100000]|Hypokalemic periodic paralysis, type 1 [RCV001506602]|Hypokalemic periodic paralysis, type 1 [RCV002502569]|Malignant hyperthermia, susceptibility to, 5 [RCV003449074]|Thyrotoxic periodic paralysis, susceptibility to, 1 [RCV003449075]|not specified [RCV000428068] |
Chr1:201087915 [GRCh38]
Chr1:201057043 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.2148C>T (p.Thr716=) |
single nucleotide variant |
Congenital myopathy 18 [RCV003458429]|Hypokalemic periodic paralysis, type 1 [RCV000869997]|Hypokalemic periodic paralysis, type 1 [RCV002488921]|Hypokalemic periodic paralysis, type 1 [RCV003449059]|Malignant hyperthermia, susceptibility to, 5 [RCV003456068]|Thyrotoxic periodic paralysis, susceptibility to, 1 [RCV003449060]|not specified [RCV000428643] |
Chr1:201073558 [GRCh38]
Chr1:201042686 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.2657+10G>A |
single nucleotide variant |
Congenital myopathy 18 [RCV003446042]|Hypokalemic periodic paralysis, type 1 [RCV000531607]|Hypokalemic periodic paralysis, type 1 [RCV003446039]|Malignant hyperthermia, susceptibility to, 5 [RCV003446040]|Thyrotoxic periodic paralysis, susceptibility to, 1 [RCV003446041]|not specified [RCV000431977] |
Chr1:201066877 [GRCh38]
Chr1:201036005 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.708G>C (p.Thr236=) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV000651270]|Hypokalemic periodic paralysis, type 1 [RCV002502524]|not provided [RCV003487270]|not specified [RCV000435466] |
Chr1:201089450 [GRCh38]
Chr1:201058578 [GRCh37]
Chr1:1q32.1 |
likely benign|uncertain significance |
| NM_000069.3(CACNA1S):c.165G>A (p.Thr55=) |
single nucleotide variant |
CACNA1S-related condition [RCV003932686]|Congenital myopathy 18 [RCV003458434]|Hypokalemic periodic paralysis, type 1 [RCV000537319]|Hypokalemic periodic paralysis, type 1 [RCV002488969]|Hypokalemic periodic paralysis, type 1 [RCV003449085]|Malignant hyperthermia, susceptibility to, 5 [RCV003449086]|Thyrotoxic periodic paralysis, susceptibility to, 1 [RCV003449087]|not specified [RCV000442768] |
Chr1:201110257 [GRCh38]
Chr1:201079385 [GRCh37]
Chr1:1q32.1 |
benign|likely benign |
| NM_000069.3(CACNA1S):c.1382C>A (p.Thr461Asn) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV000706844]|Hypokalemic periodic paralysis, type 1 [RCV002488987]|not provided [RCV000442859] |
Chr1:201083173 [GRCh38]
Chr1:201052301 [GRCh37]
Chr1:1q32.1 |
likely benign|uncertain significance |
| NM_000069.3(CACNA1S):c.1827+3A>G |
single nucleotide variant |
not provided [RCV000425172] |
Chr1:201076917 [GRCh38]
Chr1:201046045 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.2582G>C (p.Gly861Ala) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV001861555]|not provided [RCV000425186] |
Chr1:201066962 [GRCh38]
Chr1:201036090 [GRCh37]
Chr1:1q32.1 |
benign|uncertain significance |
| GRCh37/hg19 1q25.2-32.1(chr1:179413479-201764737)x1 |
copy number loss |
See cases [RCV000445748] |
Chr1:179413479..201764737 [GRCh37]
Chr1:1q25.2-32.1 |
pathogenic |
| NM_000069.3(CACNA1S):c.5576A>G (p.Asp1859Gly) |
single nucleotide variant |
Congenital myopathy 18 [RCV003458438]|Hypokalemic periodic paralysis, type 1 [RCV001865393]|Hypokalemic periodic paralysis, type 1 [RCV002488977]|Hypokalemic periodic paralysis, type 1 [RCV003449096]|Malignant hyperthermia, susceptibility to, 5 [RCV003456077]|Thyrotoxic periodic paralysis, susceptibility to, 1 [RCV003456078]|not provided [RCV000419310] |
Chr1:201039877 [GRCh38]
Chr1:201009005 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.2142C>A (p.Ile714=) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV003766431]|not specified [RCV000421986] |
Chr1:201073564 [GRCh38]
Chr1:201042692 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.4026G>A (p.Ser1342=) |
single nucleotide variant |
Congenital myopathy 18 [RCV003458432]|Hypokalemic periodic paralysis, type 1 [RCV000862557]|Hypokalemic periodic paralysis, type 1 [RCV002502571]|Hypokalemic periodic paralysis, type 1 [RCV003449076]|Malignant hyperthermia, susceptibility to, 5 [RCV003449077]|Thyrotoxic periodic paralysis, susceptibility to, 1 [RCV003449078]|not specified [RCV000432387] |
Chr1:201051071 [GRCh38]
Chr1:201020199 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.4810C>A (p.Leu1604Met) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV003766364]|not provided [RCV000432488] |
Chr1:201043519 [GRCh38]
Chr1:201012647 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.2657+9C>T |
single nucleotide variant |
CACNA1S-related condition [RCV003959991]|Congenital myopathy 18 [RCV003446048]|Hypokalemic periodic paralysis, type 1 [RCV000544084]|Hypokalemic periodic paralysis, type 1 [RCV001098032]|Malignant hyperthermia, susceptibility to, 5 [RCV003446046]|Thyrotoxic periodic paralysis, susceptibility to, 1 [RCV003446047]|not specified [RCV000436061] |
Chr1:201066878 [GRCh38]
Chr1:201036006 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.789C>A (p.Gly263=) |
single nucleotide variant |
Congenital myopathy 18 [RCV003458433]|Hypokalemic periodic paralysis, type 1 [RCV002063550]|Hypokalemic periodic paralysis, type 1 [RCV003449080]|Malignant hyperthermia, susceptibility to, 5 [RCV003449081]|Thyrotoxic periodic paralysis, susceptibility to, 1 [RCV003449082]|not specified [RCV000443427] |
Chr1:201089369 [GRCh38]
Chr1:201058497 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.481G>A (p.Val161Ile) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV001243309]|not provided [RCV000419892] |
Chr1:201092032 [GRCh38]
Chr1:201061160 [GRCh37]
Chr1:1q32.1 |
likely benign|uncertain significance |
| NM_000069.3(CACNA1S):c.588C>G (p.Leu196=) |
single nucleotide variant |
Congenital myopathy 18 [RCV003458430]|Hypokalemic periodic paralysis, type 1 [RCV001454158]|Hypokalemic periodic paralysis, type 1 [RCV003449067]|Malignant hyperthermia, susceptibility to, 5 [RCV003449068]|Thyrotoxic periodic paralysis, susceptibility to, 1 [RCV003449069]|not provided [RCV003884531]|not specified [RCV000422320] |
Chr1:201091746 [GRCh38]
Chr1:201060874 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.3414+3A>T |
single nucleotide variant |
CACNA1S-related condition [RCV003897864]|Hypokalemic periodic paralysis, type 1 [RCV000529294]|not provided [RCV002264936] |
Chr1:201060655 [GRCh38]
Chr1:201029783 [GRCh37]
Chr1:1q32.1 |
pathogenic|likely pathogenic|likely benign|uncertain significance |
| NM_000069.3(CACNA1S):c.5462A>G (p.Glu1821Gly) |
single nucleotide variant |
Congenital myopathy 18 [RCV003458437]|Hypokalemic periodic paralysis, type 1 [RCV001865392]|Hypokalemic periodic paralysis, type 1 [RCV002488976]|Hypokalemic periodic paralysis, type 1 [RCV003449095]|Malignant hyperthermia, susceptibility to, 5 [RCV003456075]|Thyrotoxic periodic paralysis, susceptibility to, 1 [RCV003456076]|not provided [RCV000436531] |
Chr1:201039991 [GRCh38]
Chr1:201009119 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.4572C>T (p.Tyr1524=) |
single nucleotide variant |
Congenital myopathy 18 [RCV003458436]|Hypokalemic periodic paralysis, type 1 [RCV001397065]|Hypokalemic periodic paralysis, type 1 [RCV003456072]|Malignant hyperthermia, susceptibility to, 5 [RCV003456073]|Thyrotoxic periodic paralysis, susceptibility to, 1 [RCV003456074]|not specified [RCV000422829] |
Chr1:201047211 [GRCh38]
Chr1:201016339 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.208G>A (p.Val70Met) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV001088952]|not provided [RCV000436745] |
Chr1:201110214 [GRCh38]
Chr1:201079342 [GRCh37]
Chr1:1q32.1 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000069.3(CACNA1S):c.1393+11A>T |
single nucleotide variant |
Congenital myopathy 18 [RCV003446055]|Hypokalemic periodic paralysis, type 1 [RCV002060045]|Hypokalemic periodic paralysis, type 1 [RCV002502580]|Hypokalemic periodic paralysis, type 1 [RCV003446052]|Malignant hyperthermia, susceptibility to, 5 [RCV003446053]|Thyrotoxic periodic paralysis, susceptibility to, 1 [RCV003446054]|not specified [RCV000440534] |
Chr1:201083151 [GRCh38]
Chr1:201052279 [GRCh37]
Chr1:1q32.1 |
benign|likely benign |
| NM_000069.3(CACNA1S):c.2920G>A (p.Val974Met) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV000534363]|Hypokalemic periodic paralysis, type 1 [RCV002480310]|not provided [RCV000437112] |
Chr1:201062077 [GRCh38]
Chr1:201031205 [GRCh37]
Chr1:1q32.1 |
likely benign|uncertain significance |
| NM_000069.3(CACNA1S):c.1619+15C>T |
single nucleotide variant |
Congenital myopathy 18 [RCV003446031]|Hypokalemic periodic paralysis, type 1 [RCV002059923]|Hypokalemic periodic paralysis, type 1 [RCV003446028]|Malignant hyperthermia, susceptibility to, 5 [RCV003446029]|Thyrotoxic periodic paralysis, susceptibility to, 1 [RCV003446030]|not specified [RCV000433876] |
Chr1:201077864 [GRCh38]
Chr1:201046992 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.5105G>A (p.Arg1702Gln) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV001230161]|Inborn genetic diseases [RCV002522473]|not provided [RCV000440915] |
Chr1:201041533 [GRCh38]
Chr1:201010661 [GRCh37]
Chr1:1q32.1 |
likely benign|uncertain significance |
| NM_000069.3(CACNA1S):c.2505T>C (p.Phe835=) |
single nucleotide variant |
Congenital myopathy 18 [RCV003458435]|Hypokalemic periodic paralysis, type 1 [RCV001393482]|Hypokalemic periodic paralysis, type 1 [RCV003449088]|Malignant hyperthermia, susceptibility to, 5 [RCV003456071]|Thyrotoxic periodic paralysis, susceptibility to, 1 [RCV003449089]|not specified [RCV000430632] |
Chr1:201069182 [GRCh38]
Chr1:201038310 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.4862T>C (p.Val1621Ala) |
single nucleotide variant |
not provided [RCV000479324] |
Chr1:201043467 [GRCh38]
Chr1:201012595 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.619G>A (p.Val207Ile) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV000528426]|Inborn genetic diseases [RCV002526575]|not provided [RCV000483307] |
Chr1:201091715 [GRCh38]
Chr1:201060843 [GRCh37]
Chr1:1q32.1 |
likely benign|uncertain significance |
| NM_000069.3(CACNA1S):c.1882G>A (p.Gly628Ser) |
single nucleotide variant |
Congenital myopathy 18 [RCV003458441]|Hypokalemic periodic paralysis, type 1 [RCV000809894]|Hypokalemic periodic paralysis, type 1 [RCV003449222]|Malignant hyperthermia, susceptibility to, 5 [RCV003449223]|Thyrotoxic periodic paralysis, susceptibility to, 1 [RCV003449224]|not provided [RCV000479731] |
Chr1:201075561 [GRCh38]
Chr1:201044689 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.744_745insTCCT (p.Gly249fs) |
insertion |
not specified [RCV000454534] |
Chr1:201089413..201089414 [GRCh38]
Chr1:201058541..201058542 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.262A>G (p.Lys88Glu) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV000651220]|Hypokalemic periodic paralysis, type 1 [RCV001356678]|Hypokalemic periodic paralysis, type 1 [RCV002481529]|Inborn genetic diseases [RCV002526644]|Malignant hyperthermia, susceptibility to, 5 [RCV001356834]|Thyrotoxic periodic paralysis, susceptibility to, 1 [RCV001356134]|not provided [RCV000729718] |
Chr1:201094018 [GRCh38]
Chr1:201063146 [GRCh37]
Chr1:1q32.1 |
benign|uncertain significance |
| NM_000069.3(CACNA1S):c.5104C>T (p.Arg1702Ter) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV000814679]|Hypokalemic periodic paralysis, type 1 [RCV001096066]|not provided [RCV000782224]|not specified [RCV000454946] |
Chr1:201041534 [GRCh38]
Chr1:201010662 [GRCh37]
Chr1:1q32.1 |
pathogenic|uncertain significance |
| NM_000069.3(CACNA1S):c.1948+1G>A |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV001218682]|not provided [RCV000782247]|not specified [RCV000455181] |
Chr1:201075494 [GRCh38]
Chr1:201044622 [GRCh37]
Chr1:1q32.1 |
likely pathogenic|uncertain significance |
| NM_000069.3(CACNA1S):c.4522C>G (p.Gln1508Glu) |
single nucleotide variant |
Congenital myopathy 18 [RCV003458442]|Hypokalemic periodic paralysis, type 1 [RCV001851232]|Hypokalemic periodic paralysis, type 1 [RCV002481522]|Hypokalemic periodic paralysis, type 1 [RCV003449231]|Malignant hyperthermia, susceptibility to, 5 [RCV003449232]|Thyrotoxic periodic paralysis, susceptibility to, 1 [RCV003449233]|not provided [RCV000481252] |
Chr1:201047546 [GRCh38]
Chr1:201016674 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.2707C>T (p.Arg903Ter) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV001851237]|Hypokalemic periodic paralysis, type 1 [RCV003449236]|Malignant hyperthermia, susceptibility to, 5 [RCV003449237]|not provided [RCV000485404] |
Chr1:201066267 [GRCh38]
Chr1:201035395 [GRCh37]
Chr1:1q32.1 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000069.3(CACNA1S):c.2099C>T (p.Thr700Met) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV000697159]|Malignant hyperthermia, susceptibility to, 5 [RCV001724025]|not provided [RCV000485685]|not specified [RCV001288113] |
Chr1:201073607 [GRCh38]
Chr1:201042735 [GRCh37]
Chr1:1q32.1 |
benign|likely benign|uncertain significance |
| NM_000069.3(CACNA1S):c.3609+1G>C |
single nucleotide variant |
not specified [RCV000455599] |
Chr1:201058407 [GRCh38]
Chr1:201027535 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.1369C>T (p.Pro457Ser) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV001212349]|Hypokalemic periodic paralysis, type 1 [RCV002475950]|Inborn genetic diseases [RCV002526955]|not provided [RCV000482187] |
Chr1:201083186 [GRCh38]
Chr1:201052314 [GRCh37]
Chr1:1q32.1 |
benign|uncertain significance |
| NM_000069.3(CACNA1S):c.3442C>T (p.His1148Tyr) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV000554067] |
Chr1:201059272 [GRCh38]
Chr1:201028400 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3 |
copy number gain |
See cases [RCV000510383] |
Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44 |
pathogenic |
| NM_000069.3(CACNA1S):c.1370C>T (p.Pro457Leu) |
single nucleotide variant |
Congenital myopathy 18 [RCV003458444]|Hypokalemic periodic paralysis, type 1 [RCV000651230]|Hypokalemic periodic paralysis, type 1 [RCV002481589]|Hypokalemic periodic paralysis, type 1 [RCV003449393]|Malignant hyperthermia, susceptibility to, 5 [RCV003456082]|Thyrotoxic periodic paralysis, susceptibility to, 1 [RCV003456083]|not provided [RCV000497854] |
Chr1:201083185 [GRCh38]
Chr1:201052313 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.1408G>T (p.Val470Leu) |
single nucleotide variant |
not provided [RCV000493773] |
Chr1:201078090 [GRCh38]
Chr1:201047218 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.2048G>A (p.Arg683His) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV000688405]|Hypokalemic periodic paralysis, type 1 [RCV001262359]|Hypokalemic periodic paralysis, type 1 [RCV002481562]|not provided [RCV000494517] |
Chr1:201074521 [GRCh38]
Chr1:201043649 [GRCh37]
Chr1:1q32.1 |
benign|uncertain significance |
| NM_000069.3(CACNA1S):c.1904T>A (p.Met635Lys) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV001856961]|not provided [RCV000494538] |
Chr1:201075539 [GRCh38]
Chr1:201044667 [GRCh37]
Chr1:1q32.1 |
likely benign|uncertain significance |
| GRCh37/hg19 1p36.33-q44(chr1:849467-249224684) |
copy number gain |
See cases [RCV000510926] |
Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44 |
pathogenic |
| NM_000069.3(CACNA1S):c.4569C>A (p.Phe1523Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV003291831] |
Chr1:201047214 [GRCh38]
Chr1:201016342 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.5356C>T (p.Leu1786=) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV000538102] |
Chr1:201040245 [GRCh38]
Chr1:201009373 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.898T>C (p.Trp300Arg) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV000542564]|Hypokalemic periodic paralysis, type 1 [RCV001100001]|Malignant hyperthermia, susceptibility to, 5 [RCV003517224]|not provided [RCV003320687] |
Chr1:201089260 [GRCh38]
Chr1:201058388 [GRCh37]
Chr1:1q32.1 |
likely benign|uncertain significance |
| NM_000069.3(CACNA1S):c.-4A>G |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV001102103]|Malignant hyperthermia, susceptibility to, 5 [RCV003517228]|not provided [RCV000579186] |
Chr1:201112343 [GRCh38]
Chr1:201081471 [GRCh37]
Chr1:1q32.1 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000069.3(CACNA1S):c.870C>T (p.Thr290=) |
single nucleotide variant |
Congenital myopathy 18 [RCV003458468]|Hypokalemic periodic paralysis, type 1 [RCV000938204]|Hypokalemic periodic paralysis, type 1 [RCV003451389]|Malignant hyperthermia, susceptibility to, 5 [RCV003451390]|Thyrotoxic periodic paralysis, susceptibility to, 1 [RCV003451391]|not specified [RCV000607253] |
Chr1:201089288 [GRCh38]
Chr1:201058416 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.1619+10G>A |
single nucleotide variant |
Congenital myopathy 18 [RCV003446240]|Hypokalemic periodic paralysis, type 1 [RCV000862103]|Hypokalemic periodic paralysis, type 1 [RCV003446237]|Malignant hyperthermia, susceptibility to, 5 [RCV003446238]|Thyrotoxic periodic paralysis, susceptibility to, 1 [RCV003446239]|not specified [RCV000604460] |
Chr1:201077869 [GRCh38]
Chr1:201046997 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.5388C>T (p.Gly1796=) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV000558089] |
Chr1:201040065 [GRCh38]
Chr1:201009193 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.5489C>G (p.Thr1830Arg) |
single nucleotide variant |
Malignant hyperthermia of anesthesia [RCV002051710] |
Chr1:201039964 [GRCh38]
Chr1:201009092 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.3796-13G>A |
single nucleotide variant |
Congenital myopathy 18 [RCV003446253]|Hypokalemic periodic paralysis, type 1 [RCV002491282]|Hypokalemic periodic paralysis, type 1 [RCV002528602]|Hypokalemic periodic paralysis, type 1 [RCV003446250]|Malignant hyperthermia, susceptibility to, 5 [RCV003446251]|Thyrotoxic periodic paralysis, susceptibility to, 1 [RCV003446252]|not specified [RCV000605394] |
Chr1:201053287 [GRCh38]
Chr1:201022415 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.5244del (p.Ser1749fs) |
deletion |
Long QT syndrome [RCV003318432] |
Chr1:201040357 [GRCh38]
Chr1:201009485 [GRCh37]
Chr1:1q32.1 |
likely pathogenic |
| NM_000069.3(CACNA1S):c.3664G>A (p.Val1222Ile) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV000559232]|Inborn genetic diseases [RCV002530229]|not provided [RCV003419988] |
Chr1:201054507 [GRCh38]
Chr1:201023635 [GRCh37]
Chr1:1q32.1 |
likely benign|uncertain significance |
| NM_000069.3(CACNA1S):c.695-5T>A |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV000541007]|Hypokalemic periodic paralysis, type 1 [RCV002483488] |
Chr1:201089468 [GRCh38]
Chr1:201058596 [GRCh37]
Chr1:1q32.1 |
likely benign|uncertain significance |
| NM_000069.3(CACNA1S):c.3425A>C (p.Gln1142Pro) |
single nucleotide variant |
CACNA1S-related condition [RCV003915613]|Congenital myopathy 18 [RCV003458461]|Hypokalemic periodic paralysis, type 1 [RCV000541458]|Hypokalemic periodic paralysis, type 1 [RCV002497184]|Hypokalemic periodic paralysis, type 1 [RCV003451205]|Malignant hyperthermia, susceptibility to, 5 [RCV003451206]|Thyrotoxic periodic paralysis, susceptibility to, 1 [RCV003451207]|not provided [RCV001662589] |
Chr1:201059289 [GRCh38]
Chr1:201028417 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.773G>T (p.Gly258Val) |
single nucleotide variant |
CACNA1S-related condition [RCV003935341]|Hypokalemic periodic paralysis, type 1 [RCV001081811]|Malignant hyperthermia, susceptibility to, 5 [RCV003517213]|not provided [RCV000514356] |
Chr1:201089385 [GRCh38]
Chr1:201058513 [GRCh37]
Chr1:1q32.1 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000069.3(CACNA1S):c.3667-4G>A |
single nucleotide variant |
Congenital myopathy 18 [RCV003446205]|Hypokalemic periodic paralysis, type 1 [RCV002063308]|Hypokalemic periodic paralysis, type 1 [RCV003446202]|Malignant hyperthermia, susceptibility to, 5 [RCV003446203]|Thyrotoxic periodic paralysis, susceptibility to, 1 [RCV003446204]|not provided [RCV001718892] |
Chr1:201053591 [GRCh38]
Chr1:201022719 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.2289G>A (p.Glu763=) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV003767627]|not specified [RCV000603258] |
Chr1:201070343 [GRCh38]
Chr1:201039471 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.1884C>G (p.Gly628=) |
single nucleotide variant |
Congenital myopathy 18 [RCV003458477]|Hypokalemic periodic paralysis, type 1 [RCV000870239]|Hypokalemic periodic paralysis, type 1 [RCV003451439]|Malignant hyperthermia, susceptibility to, 5 [RCV003451440]|Thyrotoxic periodic paralysis, susceptibility to, 1 [RCV003451441]|not provided [RCV001719037] |
Chr1:201075559 [GRCh38]
Chr1:201044687 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.482T>C (p.Val161Ala) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV000801970]|Inborn genetic diseases [RCV003159691]|not provided [RCV000522368] |
Chr1:201092031 [GRCh38]
Chr1:201061159 [GRCh37]
Chr1:1q32.1 |
likely benign|uncertain significance |
| NM_000069.3(CACNA1S):c.900+14C>T |
single nucleotide variant |
Congenital myopathy 18 [RCV003446228]|Hypokalemic periodic paralysis, type 1 [RCV002065400]|Hypokalemic periodic paralysis, type 1 [RCV002491272]|Hypokalemic periodic paralysis, type 1 [RCV003446225]|Malignant hyperthermia, susceptibility to, 5 [RCV003446226]|Thyrotoxic periodic paralysis, susceptibility to, 1 [RCV003446227]|not specified [RCV000607180] |
Chr1:201089244 [GRCh38]
Chr1:201058372 [GRCh37]
Chr1:1q32.1 |
benign|likely benign |
| NM_000069.3(CACNA1S):c.4038del (p.Glu1348fs) |
deletion |
not provided [RCV000627464] |
Chr1:201051059 [GRCh38]
Chr1:201020187 [GRCh37]
Chr1:1q32.1 |
likely pathogenic |
| NM_000069.3(CACNA1S):c.4064A>G (p.Asn1355Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV003262513] |
Chr1:201051033 [GRCh38]
Chr1:201020161 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.5119C>G (p.Pro1707Ala) |
single nucleotide variant |
Inborn genetic diseases [RCV003262587] |
Chr1:201041519 [GRCh38]
Chr1:201010647 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.3953+16C>T |
single nucleotide variant |
Congenital myopathy 18 [RCV003446244]|Hypokalemic periodic paralysis, type 1 [RCV002528570]|Hypokalemic periodic paralysis, type 1 [RCV003446241]|Malignant hyperthermia, susceptibility to, 5 [RCV003446242]|Thyrotoxic periodic paralysis, susceptibility to, 1 [RCV003446243]|not specified [RCV000612663] |
Chr1:201052541 [GRCh38]
Chr1:201021669 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.1393+18G>T |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV003767690]|not specified [RCV000615613] |
Chr1:201083144 [GRCh38]
Chr1:201052272 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.4425C>T (p.Leu1475=) |
single nucleotide variant |
Congenital myopathy 18 [RCV003458469]|Hypokalemic periodic paralysis, type 1 [RCV002529495]|Hypokalemic periodic paralysis, type 1 [RCV003451392]|Malignant hyperthermia, susceptibility to, 5 [RCV003451393]|Thyrotoxic periodic paralysis, susceptibility to, 1 [RCV003451394]|not specified [RCV000606065] |
Chr1:201048598 [GRCh38]
Chr1:201017726 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.2854-33CCTC[6] |
microsatellite |
Congenital myopathy 18 [RCV003446209]|Hypokalemic periodic paralysis, type 1 [RCV002529657]|Hypokalemic periodic paralysis, type 1 [RCV003446206]|Malignant hyperthermia, susceptibility to, 5 [RCV003446207]|Thyrotoxic periodic paralysis, susceptibility to, 1 [RCV003446208]|not specified [RCV000610098] |
Chr1:201062527..201062528 [GRCh38]
Chr1:201031655..201031656 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.2767G>A (p.Val923Met) |
single nucleotide variant |
CACNA1S-related condition [RCV003403330]|Congenital myopathy 18 [RCV003458460]|Hypokalemic periodic paralysis, type 1 [RCV000537711]|Hypokalemic periodic paralysis, type 1 [RCV000765031]|Hypokalemic periodic paralysis, type 1 [RCV003451202]|Malignant hyperthermia, susceptibility to, 5 [RCV003451203]|Thyrotoxic periodic paralysis, susceptibility to, 1 [RCV003451204] |
Chr1:201065924 [GRCh38]
Chr1:201035052 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.540T>C (p.Pro180=) |
single nucleotide variant |
CACNA1S-related condition [RCV003905583]|Hypokalemic periodic paralysis, type 1 [RCV000822871]|Malignant hyperthermia, susceptibility to, 5 [RCV003517240]|not specified [RCV000610265] |
Chr1:201091973 [GRCh38]
Chr1:201061101 [GRCh37]
Chr1:1q32.1 |
likely benign|uncertain significance |
| NM_000069.3(CACNA1S):c.4996G>A (p.Ala1666Thr) |
single nucleotide variant |
Congenital myopathy 18 [RCV003458476]|Hypokalemic periodic paralysis, type 1 [RCV001313278]|Hypokalemic periodic paralysis, type 1 [RCV003456104]|Malignant hyperthermia, susceptibility to, 5 [RCV003456105]|Thyrotoxic periodic paralysis, susceptibility to, 1 [RCV003456106]|not specified [RCV000613062] |
Chr1:201043333 [GRCh38]
Chr1:201012461 [GRCh37]
Chr1:1q32.1 |
benign|likely benign|uncertain significance |
| NM_000069.3(CACNA1S):c.900+9G>A |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV001860279]|not specified [RCV000613168] |
Chr1:201089249 [GRCh38]
Chr1:201058377 [GRCh37]
Chr1:1q32.1 |
likely benign|uncertain significance |
| NM_000069.3(CACNA1S):c.2658G>A (p.Glu886=) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV001242982]|not provided [RCV001718903] |
Chr1:201066316 [GRCh38]
Chr1:201035444 [GRCh37]
Chr1:1q32.1 |
likely benign|uncertain significance |
| NM_000069.3(CACNA1S):c.373C>T (p.Leu125=) |
single nucleotide variant |
not specified [RCV000602343] |
Chr1:201093907 [GRCh38]
Chr1:201063035 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.3129C>A (p.Ile1043=) |
single nucleotide variant |
Congenital myopathy 18 [RCV003458475]|Hypokalemic periodic paralysis, type 1 [RCV000862902]|Hypokalemic periodic paralysis, type 1 [RCV003451434]|Malignant hyperthermia, susceptibility to, 5 [RCV003451435]|Thyrotoxic periodic paralysis, susceptibility to, 1 [RCV003451436]|not specified [RCV000613211] |
Chr1:201061393 [GRCh38]
Chr1:201030521 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.1563C>A (p.Pro521=) |
single nucleotide variant |
Congenital myopathy 18 [RCV003458474]|Hypokalemic periodic paralysis, type 1 [RCV002065424]|Hypokalemic periodic paralysis, type 1 [RCV003451430]|Malignant hyperthermia, susceptibility to, 5 [RCV003456103]|Thyrotoxic periodic paralysis, susceptibility to, 1 [RCV003451431]|not specified [RCV000613543] |
Chr1:201077935 [GRCh38]
Chr1:201047063 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.1707C>G (p.Phe569Leu) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV003314509] |
Chr1:201077040 [GRCh38]
Chr1:201046168 [GRCh37]
Chr1:1q32.1 |
likely pathogenic |
| NM_000069.3(CACNA1S):c.5315C>G (p.Thr1772Ser) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV000557365] |
Chr1:201040286 [GRCh38]
Chr1:201009414 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.5550C>A (p.Asn1850Lys) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV000535113] |
Chr1:201039903 [GRCh38]
Chr1:201009031 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.1611G>A (p.Lys537=) |
single nucleotide variant |
Congenital myopathy 18 [RCV003458471]|Hypokalemic periodic paralysis, type 1 [RCV002529527]|Hypokalemic periodic paralysis, type 1 [RCV003451396]|Malignant hyperthermia, susceptibility to, 5 [RCV003451397]|Thyrotoxic periodic paralysis, susceptibility to, 1 [RCV003451398]|not provided [RCV003884657]|not specified [RCV000608571] |
Chr1:201077887 [GRCh38]
Chr1:201047015 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.1467C>T (p.Arg489=) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV003767718]|not specified [RCV000611288] |
Chr1:201078031 [GRCh38]
Chr1:201047159 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.1981G>A (p.Val661Met) |
single nucleotide variant |
Congenital myopathy 18 [RCV003458457]|Hypokalemic periodic paralysis, type 1 [RCV000557994]|Hypokalemic periodic paralysis, type 1 [RCV002506365]|Hypokalemic periodic paralysis, type 1 [RCV003451196]|Malignant hyperthermia, susceptibility to, 5 [RCV003451197]|Thyrotoxic periodic paralysis, susceptibility to, 1 [RCV003451198] |
Chr1:201074588 [GRCh38]
Chr1:201043716 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.5135-4A>G |
single nucleotide variant |
Congenital myopathy 18 [RCV003446196]|Hypokalemic periodic paralysis, type 1 [RCV001468454]|Hypokalemic periodic paralysis, type 1 [RCV003446193]|Malignant hyperthermia, susceptibility to, 5 [RCV003446194]|Thyrotoxic periodic paralysis, susceptibility to, 1 [RCV003446195]|not provided [RCV000934767] |
Chr1:201040717 [GRCh38]
Chr1:201009845 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.3127A>G (p.Ile1043Val) |
single nucleotide variant |
Inborn genetic diseases [RCV003277067] |
Chr1:201061395 [GRCh38]
Chr1:201030523 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.3322C>G (p.Gln1108Glu) |
single nucleotide variant |
Congenital myopathy 18 [RCV003458481]|Hypokalemic periodic paralysis, type 1 [RCV000651215]|Hypokalemic periodic paralysis, type 1 [RCV003451545]|Malignant hyperthermia, susceptibility to, 5 [RCV003451546]|Thyrotoxic periodic paralysis, susceptibility to, 1 [RCV003451547]|not provided [RCV002284417] |
Chr1:201060750 [GRCh38]
Chr1:201029878 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.5612C>T (p.Pro1871Leu) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV000651216] |
Chr1:201039841 [GRCh38]
Chr1:201008969 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.865A>G (p.Ile289Val) |
single nucleotide variant |
Congenital myopathy 18 [RCV003458482]|Hypokalemic periodic paralysis, type 1 [RCV000651217]|Hypokalemic periodic paralysis, type 1 [RCV002493043]|Hypokalemic periodic paralysis, type 1 [RCV003456113]|Malignant hyperthermia, susceptibility to, 5 [RCV003451548]|Thyrotoxic periodic paralysis, susceptibility to, 1 [RCV003456114] |
Chr1:201089293 [GRCh38]
Chr1:201058421 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.4145A>G (p.Asp1382Gly) |
single nucleotide variant |
Congenital myopathy 18 [RCV003458483]|Hypokalemic periodic paralysis, type 1 [RCV000651219]|Hypokalemic periodic paralysis, type 1 [RCV003451549]|Inborn genetic diseases [RCV002530540]|Malignant hyperthermia, susceptibility to, 5 [RCV003451550]|Thyrotoxic periodic paralysis, susceptibility to, 1 [RCV003451551] |
Chr1:201050485 [GRCh38]
Chr1:201019613 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.3752_3754del (p.Glu1251del) |
deletion |
Congenital myopathy 18 [RCV003458484]|Hypokalemic periodic paralysis, type 1 [RCV000651221]|Hypokalemic periodic paralysis, type 1 [RCV002507120]|Hypokalemic periodic paralysis, type 1 [RCV003451552]|Malignant hyperthermia, susceptibility to, 5 [RCV003451553]|Thyrotoxic periodic paralysis, susceptibility to, 1 [RCV003451554] |
Chr1:201053500..201053502 [GRCh38]
Chr1:201022628..201022630 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.564del (p.Ile189fs) |
deletion |
Hypokalemic periodic paralysis, type 1 [RCV000651223] |
Chr1:201091770 [GRCh38]
Chr1:201060898 [GRCh37]
Chr1:1q32.1 |
pathogenic|uncertain significance |
| NM_000069.3(CACNA1S):c.4340G>A (p.Arg1447Gln) |
single nucleotide variant |
Congenital myopathy 18 [RCV003458485]|Hypokalemic periodic paralysis, type 1 [RCV000651224]|Hypokalemic periodic paralysis, type 1 [RCV002507121]|Hypokalemic periodic paralysis, type 1 [RCV003456115]|Malignant hyperthermia, susceptibility to, 5 [RCV003451555]|Thyrotoxic periodic paralysis, susceptibility to, 1 [RCV003451556]|not provided [RCV001574964] |
Chr1:201048683 [GRCh38]
Chr1:201017811 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.4972_4973delinsTA (p.Arg1658Tyr) |
indel |
CACNA1S-related condition [RCV003411537]|Congenital myopathy 18 [RCV003458486]|Hypokalemic periodic paralysis, type 1 [RCV000651226]|Hypokalemic periodic paralysis, type 1 [RCV002499117]|Hypokalemic periodic paralysis, type 1 [RCV003451557]|Malignant hyperthermia, susceptibility to, 5 [RCV003451558]|Thyrotoxic periodic paralysis, susceptibility to, 1 [RCV003451559]|not provided [RCV001557016] |
Chr1:201043356..201043357 [GRCh38]
Chr1:201012484..201012485 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.1557G>A (p.Met519Ile) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV000651227]|Hypokalemic periodic paralysis, type 1 [RCV002477450] |
Chr1:201077941 [GRCh38]
Chr1:201047069 [GRCh37]
Chr1:1q32.1 |
benign|uncertain significance |
| NM_000069.3(CACNA1S):c.1348G>A (p.Ala450Thr) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV000651229]|Hypokalemic periodic paralysis, type 1 [RCV002477451] |
Chr1:201083207 [GRCh38]
Chr1:201052335 [GRCh37]
Chr1:1q32.1 |
benign|uncertain significance |
| NM_000069.3(CACNA1S):c.4114-5T>A |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV000651231] |
Chr1:201050521 [GRCh38]
Chr1:201019649 [GRCh37]
Chr1:1q32.1 |
likely benign|uncertain significance |
| NM_000069.3(CACNA1S):c.3185G>A (p.Gly1062Asp) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV000651232] |
Chr1:201061337 [GRCh38]
Chr1:201030465 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.2919C>T (p.Tyr973=) |
single nucleotide variant |
Congenital myopathy 18 [RCV003458487]|Hypokalemic periodic paralysis, type 1 [RCV000651233]|Hypokalemic periodic paralysis, type 1 [RCV002499118]|Hypokalemic periodic paralysis, type 1 [RCV003456116]|Malignant hyperthermia, susceptibility to, 5 [RCV003451560]|Thyrotoxic periodic paralysis, susceptibility to, 1 [RCV003451561] |
Chr1:201062078 [GRCh38]
Chr1:201031206 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.4962C>T (p.Asn1654=) |
single nucleotide variant |
CACNA1S-related condition [RCV003953180]|Hypokalemic periodic paralysis, type 1 [RCV000651234]|Malignant hyperthermia, susceptibility to, 5 [RCV003517256] |
Chr1:201043367 [GRCh38]
Chr1:201012495 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.4194C>T (p.His1398=) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV000651235] |
Chr1:201050436 [GRCh38]
Chr1:201019564 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.3616C>T (p.Leu1206=) |
single nucleotide variant |
Congenital myopathy 18 [RCV003458488]|Hypokalemic periodic paralysis, type 1 [RCV000651237]|Hypokalemic periodic paralysis, type 1 [RCV001099721]|Malignant hyperthermia, susceptibility to, 5 [RCV003451562]|Thyrotoxic periodic paralysis, susceptibility to, 1 [RCV003451563]|not provided [RCV001531027] |
Chr1:201054555 [GRCh38]
Chr1:201023683 [GRCh37]
Chr1:1q32.1 |
benign|likely benign |
| NM_000069.3(CACNA1S):c.2960A>G (p.His987Arg) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV000651238] |
Chr1:201062037 [GRCh38]
Chr1:201031165 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.4468C>T (p.Leu1490=) |
single nucleotide variant |
Congenital myopathy 18 [RCV003458489]|Hypokalemic periodic paralysis, type 1 [RCV001515531]|Hypokalemic periodic paralysis, type 1 [RCV003451564]|Malignant hyperthermia, susceptibility to, 5 [RCV003451565]|Thyrotoxic periodic paralysis, susceptibility to, 1 [RCV003451566]|not provided [RCV000711146] |
Chr1:201047600 [GRCh38]
Chr1:201016728 [GRCh37]
Chr1:1q32.1 |
benign |
| NM_000069.3(CACNA1S):c.1935C>T (p.Phe645=) |
single nucleotide variant |
CACNA1S-related condition [RCV003892480]|Congenital myopathy 18 [RCV003458490]|Hypokalemic periodic paralysis, type 1 [RCV000651241]|Hypokalemic periodic paralysis, type 1 [RCV001096375]|Malignant hyperthermia, susceptibility to, 5 [RCV003451567]|Thyrotoxic periodic paralysis, susceptibility to, 1 [RCV003451568] |
Chr1:201075508 [GRCh38]
Chr1:201044636 [GRCh37]
Chr1:1q32.1 |
benign|likely benign |
| NM_000069.3(CACNA1S):c.541+7G>A |
single nucleotide variant |
Congenital myopathy 18 [RCV003446286]|Hypokalemic periodic paralysis, type 1 [RCV001457787]|Hypokalemic periodic paralysis, type 1 [RCV002507122]|Hypokalemic periodic paralysis, type 1 [RCV003446283]|Malignant hyperthermia, susceptibility to, 5 [RCV003446284]|Thyrotoxic periodic paralysis, susceptibility to, 1 [RCV003446285] |
Chr1:201091965 [GRCh38]
Chr1:201061093 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.1845C>T (p.Asp615=) |
single nucleotide variant |
Congenital myopathy 18 [RCV003458491]|Hypokalemic periodic paralysis, type 1 [RCV000651244]|Hypokalemic periodic paralysis, type 1 [RCV001098123]|Malignant hyperthermia, susceptibility to, 5 [RCV003451569]|Thyrotoxic periodic paralysis, susceptibility to, 1 [RCV003451570] |
Chr1:201075598 [GRCh38]
Chr1:201044726 [GRCh37]
Chr1:1q32.1 |
benign|likely benign |
| NM_000069.3(CACNA1S):c.4861G>A (p.Val1621Ile) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV000651212]|Hypokalemic periodic paralysis, type 1 [RCV002485470]|Inborn genetic diseases [RCV002530539] |
Chr1:201043468 [GRCh38]
Chr1:201012596 [GRCh37]
Chr1:1q32.1 |
likely benign|uncertain significance |
| NM_000069.3(CACNA1S):c.2694G>T (p.Val898=) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV000651246] |
Chr1:201066280 [GRCh38]
Chr1:201035408 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.2556G>A (p.Thr852=) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV000651247] |
Chr1:201066988 [GRCh38]
Chr1:201036116 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.5087C>T (p.Thr1696Met) |
single nucleotide variant |
CACNA1S-related condition [RCV003953181]|Congenital myopathy 18 [RCV003458492]|Hypokalemic periodic paralysis, type 1 [RCV000651249]|Hypokalemic periodic paralysis, type 1 [RCV003456117]|Malignant hyperthermia, susceptibility to, 5 [RCV003451571]|Thyrotoxic periodic paralysis, susceptibility to, 1 [RCV003456118]|not provided [RCV001548658] |
Chr1:201041551 [GRCh38]
Chr1:201010679 [GRCh37]
Chr1:1q32.1 |
benign|likely benign |
| NM_000069.3(CACNA1S):c.2562C>T (p.Tyr854=) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV000651250] |
Chr1:201066982 [GRCh38]
Chr1:201036110 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.2361-10G>A |
single nucleotide variant |
Congenital myopathy 18 [RCV003446290]|Hypokalemic periodic paralysis, type 1 [RCV000651252]|Hypokalemic periodic paralysis, type 1 [RCV002499119]|Hypokalemic periodic paralysis, type 1 [RCV003446287]|Malignant hyperthermia, susceptibility to, 5 [RCV003446288]|Thyrotoxic periodic paralysis, susceptibility to, 1 [RCV003446289] |
Chr1:201069611 [GRCh38]
Chr1:201038739 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.3761G>A (p.Arg1254Gln) |
single nucleotide variant |
CACNA1S-related condition [RCV003953182]|Hypokalemic periodic paralysis, type 1 [RCV001084742]|not provided [RCV000651253] |
Chr1:201053493 [GRCh38]
Chr1:201022621 [GRCh37]
Chr1:1q32.1 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000069.3(CACNA1S):c.2628G>T (p.Val876=) |
single nucleotide variant |
Congenital myopathy 18 [RCV003458493]|Hypokalemic periodic paralysis, type 1 [RCV000651254]|Hypokalemic periodic paralysis, type 1 [RCV002507123]|Hypokalemic periodic paralysis, type 1 [RCV003456119]|Malignant hyperthermia, susceptibility to, 5 [RCV003451572]|Thyrotoxic periodic paralysis, susceptibility to, 1 [RCV003451573]|not provided [RCV003311632] |
Chr1:201066916 [GRCh38]
Chr1:201036044 [GRCh37]
Chr1:1q32.1 |
benign|likely benign |
| NM_000069.3(CACNA1S):c.3657C>T (p.Cys1219=) |
single nucleotide variant |
CACNA1S-related condition [RCV003980268]|Congenital myopathy 18 [RCV003458494]|Hypokalemic periodic paralysis, type 1 [RCV000651255]|Hypokalemic periodic paralysis, type 1 [RCV001099720]|Malignant hyperthermia, susceptibility to, 5 [RCV003451574]|Thyrotoxic periodic paralysis, susceptibility to, 1 [RCV003451575]|not provided [RCV003326484] |
Chr1:201054514 [GRCh38]
Chr1:201023642 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.5199A>G (p.Arg1733=) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV000651256] |
Chr1:201040649 [GRCh38]
Chr1:201009777 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.159C>T (p.Phe53=) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV000651257] |
Chr1:201110263 [GRCh38]
Chr1:201079391 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.4176C>G (p.Ser1392=) |
single nucleotide variant |
Congenital myopathy 18 [RCV003458495]|Hypokalemic periodic paralysis, type 1 [RCV001475888]|Hypokalemic periodic paralysis, type 1 [RCV002493044]|Hypokalemic periodic paralysis, type 1 [RCV003451576]|Malignant hyperthermia, susceptibility to, 5 [RCV003456120]|Thyrotoxic periodic paralysis, susceptibility to, 1 [RCV003456121] |
Chr1:201050454 [GRCh38]
Chr1:201019582 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.4718C>T (p.Thr1573Met) |
single nucleotide variant |
CACNA1S-related condition [RCV003953183]|Congenital myopathy 18 [RCV003458497]|Hypokalemic periodic paralysis, type 1 [RCV000651269]|Hypokalemic periodic paralysis, type 1 [RCV002493045]|Hypokalemic periodic paralysis, type 1 [RCV003451580]|Malignant hyperthermia, susceptibility to, 5 [RCV003451581]|Thyrotoxic periodic paralysis, susceptibility to, 1 [RCV003451582] |
Chr1:201044407 [GRCh38]
Chr1:201013535 [GRCh37]
Chr1:1q32.1 |
likely benign|uncertain significance |
| NM_000069.3(CACNA1S):c.5049-2A>G |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV000651268]|Hypokalemic periodic paralysis, type 1 [RCV002248848]|not provided [RCV002260656]|not specified [RCV002469236] |
Chr1:201041591 [GRCh38]
Chr1:201010719 [GRCh37]
Chr1:1q32.1 |
pathogenic|likely pathogenic|likely benign|uncertain significance |
| NM_000069.3(CACNA1S):c.639C>T (p.Ile213=) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV000651267]|Malignant hyperthermia, susceptibility to, 5 [RCV003517257] |
Chr1:201091695 [GRCh38]
Chr1:201060823 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.2331C>T (p.Ser777=) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV001440366] |
Chr1:201070301 [GRCh38]
Chr1:201039429 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.315C>T (p.Ile105=) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV001431767] |
Chr1:201093965 [GRCh38]
Chr1:201063093 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.2667C>T (p.Ala889=) |
single nucleotide variant |
Congenital myopathy 18 [RCV003458496]|Hypokalemic periodic paralysis, type 1 [RCV000651264]|Hypokalemic periodic paralysis, type 1 [RCV002499120]|Hypokalemic periodic paralysis, type 1 [RCV003451577]|Malignant hyperthermia, susceptibility to, 5 [RCV003451578]|Thyrotoxic periodic paralysis, susceptibility to, 1 [RCV003451579] |
Chr1:201066307 [GRCh38]
Chr1:201035435 [GRCh37]
Chr1:1q32.1 |
benign|likely benign |
| NM_000069.3(CACNA1S):c.5238G>A (p.Val1746=) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV000651262] |
Chr1:201040363 [GRCh38]
Chr1:201009491 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.3144C>T (p.Tyr1048=) |
single nucleotide variant |
not provided [RCV000651261] |
Chr1:201061378 [GRCh38]
Chr1:201030506 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.2310C>T (p.Ala770=) |
single nucleotide variant |
Congenital myopathy 18 [RCV003458479]|Hypokalemic periodic paralysis, type 1 [RCV002064313]|Hypokalemic periodic paralysis, type 1 [RCV003451443]|Malignant hyperthermia, susceptibility to, 5 [RCV003451444]|Thyrotoxic periodic paralysis, susceptibility to, 1 [RCV003451445]|not specified [RCV000609289] |
Chr1:201070322 [GRCh38]
Chr1:201039450 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.152+17G>A |
single nucleotide variant |
Congenital myopathy 18 [RCV003446236]|Hypokalemic periodic paralysis, type 1 [RCV002531606]|Hypokalemic periodic paralysis, type 1 [RCV003446233]|Malignant hyperthermia, susceptibility to, 5 [RCV003446234]|Thyrotoxic periodic paralysis, susceptibility to, 1 [RCV003446235]|not specified [RCV000612101] |
Chr1:201112171 [GRCh38]
Chr1:201081299 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.1290G>A (p.Lys430=) |
single nucleotide variant |
Congenital myopathy 18 [RCV003458473]|Hypokalemic periodic paralysis, type 1 [RCV002529688]|Hypokalemic periodic paralysis, type 1 [RCV003451420]|Malignant hyperthermia, susceptibility to, 5 [RCV003451421]|Thyrotoxic periodic paralysis, susceptibility to, 1 [RCV003451422]|not specified [RCV000614872] |
Chr1:201083265 [GRCh38]
Chr1:201052393 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.200C>T (p.Ala67Val) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV000558890] |
Chr1:201110222 [GRCh38]
Chr1:201079350 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.1047C>T (p.Thr349=) |
single nucleotide variant |
Congenital myopathy 18 [RCV003458472]|Hypokalemic periodic paralysis, type 1 [RCV000870043]|Hypokalemic periodic paralysis, type 1 [RCV001099999]|Malignant hyperthermia, susceptibility to, 5 [RCV003451415]|Thyrotoxic periodic paralysis, susceptibility to, 1 [RCV003451416]|not provided [RCV001697504] |
Chr1:201085539 [GRCh38]
Chr1:201054667 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.1256G>A (p.Arg419His) |
single nucleotide variant |
Congenital myopathy 18 [RCV003458449]|Hypokalemic periodic paralysis, type 1 [RCV000811193]|Hypokalemic periodic paralysis, type 1 [RCV003449493]|Malignant hyperthermia, susceptibility to, 5 [RCV003456085]|Thyrotoxic periodic paralysis, susceptibility to, 1 [RCV003456086]|not provided [RCV000522132] |
Chr1:201083299 [GRCh38]
Chr1:201052427 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.4377C>T (p.Gly1459=) |
single nucleotide variant |
Congenital myopathy 18 [RCV003458478]|Hypokalemic periodic paralysis, type 1 [RCV000983807]|Hypokalemic periodic paralysis, type 1 [RCV003451442]|Malignant hyperthermia, susceptibility to, 5 [RCV003456107]|Thyrotoxic periodic paralysis, susceptibility to, 1 [RCV003456108]|not specified [RCV000605825] |
Chr1:201048646 [GRCh38]
Chr1:201017774 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.3686G>C (p.Arg1229Pro) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV002061992]|Malignant hyperthermia of anesthesia [RCV002051711] |
Chr1:201053568 [GRCh38]
Chr1:201022696 [GRCh37]
Chr1:1q32.1 |
likely benign|uncertain significance |
| NM_000069.3(CACNA1S):c.5417T>C (p.Phe1806Ser) |
single nucleotide variant |
Malignant hyperthermia of anesthesia [RCV002051709] |
Chr1:201040036 [GRCh38]
Chr1:201009164 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.2746-16G>A |
single nucleotide variant |
Congenital myopathy 18 [RCV003446182]|Hypokalemic periodic paralysis, type 1 [RCV002062811]|Hypokalemic periodic paralysis, type 1 [RCV002491243]|Hypokalemic periodic paralysis, type 1 [RCV003446179]|Malignant hyperthermia, susceptibility to, 5 [RCV003446180]|Thyrotoxic periodic paralysis, susceptibility to, 1 [RCV003446181]|not specified [RCV000600920] |
Chr1:201065961 [GRCh38]
Chr1:201035089 [GRCh37]
Chr1:1q32.1 |
benign|likely benign |
| NM_000069.3(CACNA1S):c.982C>A (p.Leu328Met) |
single nucleotide variant |
Congenital myopathy 18 [RCV003458499]|Hypokalemic periodic paralysis, type 1 [RCV000684971]|Hypokalemic periodic paralysis, type 1 [RCV003453403]|Malignant hyperthermia, susceptibility to, 5 [RCV003456126]|Thyrotoxic periodic paralysis, susceptibility to, 1 [RCV003338729] |
Chr1:201087848 [GRCh38]
Chr1:201056976 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.1678G>T (p.Ala560Ser) |
single nucleotide variant |
Rhabdomyolysis [RCV000662288]|not provided [RCV001775946] |
Chr1:201077069 [GRCh38]
Chr1:201046197 [GRCh37]
Chr1:1q32.1 |
likely pathogenic|uncertain significance |
| NM_000069.3(CACNA1S):c.520C>T (p.Arg174Trp) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV000698038]|Hypokalemic periodic paralysis, type 1 [RCV001096586]|Malignant hyperthermia, susceptibility to, 5 [RCV002468602]|desflurane response - Toxicity [RCV001788330]|enflurane response - Toxicity [RCV001788331]|halothane response - Toxicity [RCV001788332]|isoflurane response - Toxicity [RCV001788333]|methoxyflurane response - Toxicity [RCV001788334]|not provided [RCV001093102]|not specified [RCV002249414]|sevoflurane response - Toxicity [RCV001788335]|succinylcholine response - Toxicity [RCV001788336] |
Chr1:201091993 [GRCh38]
Chr1:201061121 [GRCh37]
Chr1:1q32.1 |
pathogenic|likely pathogenic|drug response|uncertain significance |
| NM_000069.3(CACNA1S):c.1465C>T (p.Arg489Cys) |
single nucleotide variant |
CACNA1S-related condition [RCV003392506]|Hypokalemic periodic paralysis, type 1 [RCV001096478]|Hypokalemic periodic paralysis, type 1 [RCV001855376]|Inborn genetic diseases [RCV002536327]|not provided [RCV000658423] |
Chr1:201078033 [GRCh38]
Chr1:201047161 [GRCh37]
Chr1:1q32.1 |
benign|uncertain significance |
| NM_000069.3(CACNA1S):c.4051A>G (p.Thr1351Ala) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV000685050] |
Chr1:201051046 [GRCh38]
Chr1:201020174 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.2327C>A (p.Ala776Asp) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV000661917] |
Chr1:201070305 [GRCh38]
Chr1:201039433 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.1285G>A (p.Val429Met) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV000714537]|Hypokalemic periodic paralysis, type 1 [RCV001868336] |
Chr1:201083270 [GRCh38]
Chr1:201052398 [GRCh37]
Chr1:1q32.1 |
benign|uncertain significance |
| GRCh37/hg19 1q32.1(chr1:200799541-201011646)x3 |
copy number gain |
not provided [RCV000684685] |
Chr1:200799541..201011646 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| GRCh37/hg19 1q32.1(chr1:200873507-201947585)x3 |
copy number gain |
not provided [RCV000684686] |
Chr1:200873507..201947585 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.2104G>T (p.Ala702Ser) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV000702384] |
Chr1:201073602 [GRCh38]
Chr1:201042730 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.3398T>C (p.Ile1133Thr) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV000688415]|not provided [RCV000722316] |
Chr1:201060674 [GRCh38]
Chr1:201029802 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.4778T>C (p.Met1593Thr) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV000702702] |
Chr1:201044347 [GRCh38]
Chr1:201013475 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.1777C>T (p.Arg593Trp) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV000699806]|Hypokalemic periodic paralysis, type 1 [RCV001262360]|Hypokalemic periodic paralysis, type 1 [RCV002485714] |
Chr1:201076970 [GRCh38]
Chr1:201046098 [GRCh37]
Chr1:1q32.1 |
likely benign|uncertain significance |
| NM_000069.3(CACNA1S):c.4984A>T (p.Asn1662Tyr) |
single nucleotide variant |
Congenital myopathy 18 [RCV003458500]|Hypokalemic periodic paralysis, type 1 [RCV000686577]|Hypokalemic periodic paralysis, type 1 [RCV002477529]|Hypokalemic periodic paralysis, type 1 [RCV003453410]|Malignant hyperthermia, susceptibility to, 5 [RCV003453411]|Thyrotoxic periodic paralysis, susceptibility to, 1 [RCV003453412]|not provided [RCV001796182] |
Chr1:201043345 [GRCh38]
Chr1:201012473 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.253G>A (p.Gly85Ser) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV000687088]|Hypokalemic periodic paralysis, type 1 [RCV000765033] |
Chr1:201110169 [GRCh38]
Chr1:201079297 [GRCh37]
Chr1:1q32.1 |
benign|uncertain significance |
| NM_000069.3(CACNA1S):c.1827+6C>T |
single nucleotide variant |
CACNA1S-related condition [RCV003907948]|Congenital myopathy 18 [RCV003446351]|Hypokalemic periodic paralysis, type 1 [RCV000689838]|Hypokalemic periodic paralysis, type 1 [RCV002485628]|Hypokalemic periodic paralysis, type 1 [RCV003446348]|Malignant hyperthermia, susceptibility to, 5 [RCV003446349]|Thyrotoxic periodic paralysis, susceptibility to, 1 [RCV003446350] |
Chr1:201076914 [GRCh38]
Chr1:201046042 [GRCh37]
Chr1:1q32.1 |
likely benign|uncertain significance |
| NM_000069.3(CACNA1S):c.1777C>A (p.Arg593=) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV000692628] |
Chr1:201076970 [GRCh38]
Chr1:201046098 [GRCh37]
Chr1:1q32.1 |
benign|uncertain significance |
| NM_000069.3(CACNA1S):c.4113+1G>C |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV000687375]|Hypokalemic periodic paralysis, type 1 [RCV001784310]|Malignant hyperthermia, susceptibility to, 5 [RCV003446347]|not provided [RCV003486917] |
Chr1:201050983 [GRCh38]
Chr1:201020111 [GRCh37]
Chr1:1q32.1 |
likely pathogenic |
| NM_000069.3(CACNA1S):c.947C>G (p.Thr316Ser) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV000690191] |
Chr1:201087883 [GRCh38]
Chr1:201057011 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.3530A>T (p.Tyr1177Phe) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV000695256]|Malignant hyperthermia, susceptibility to, 5 [RCV003517258] |
Chr1:201058487 [GRCh38]
Chr1:201027615 [GRCh37]
Chr1:1q32.1 |
likely benign|uncertain significance |
| NM_000069.3(CACNA1S):c.3091G>A (p.Val1031Met) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV000707737]|Hypokalemic periodic paralysis, type 1 [RCV002477637] |
Chr1:201061431 [GRCh38]
Chr1:201030559 [GRCh37]
Chr1:1q32.1 |
likely benign|uncertain significance |
| NM_000069.3(CACNA1S):c.2361-3C>T |
single nucleotide variant |
Congenital myopathy 18 [RCV003446373]|Hypokalemic periodic paralysis, type 1 [RCV000705596]|Hypokalemic periodic paralysis, type 1 [RCV002499271]|Hypokalemic periodic paralysis, type 1 [RCV003446370]|Malignant hyperthermia, susceptibility to, 5 [RCV003446371]|Thyrotoxic periodic paralysis, susceptibility to, 1 [RCV003446372] |
Chr1:201069604 [GRCh38]
Chr1:201038732 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.5309G>A (p.Arg1770Lys) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV000703094] |
Chr1:201040292 [GRCh38]
Chr1:201009420 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.3406G>A (p.Gly1136Ser) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV000686554]|Hypokalemic periodic paralysis, type 1 [RCV002477528]|Inborn genetic diseases [RCV002547103] |
Chr1:201060666 [GRCh38]
Chr1:201029794 [GRCh37]
Chr1:1q32.1 |
benign|uncertain significance |
| NM_000069.3(CACNA1S):c.4490T>C (p.Ile1497Thr) |
single nucleotide variant |
Congenital myopathy 18 [RCV003458501]|Hypokalemic periodic paralysis, type 1 [RCV000686732]|Hypokalemic periodic paralysis, type 1 [RCV002485602]|Hypokalemic periodic paralysis, type 1 [RCV003453413]|Malignant hyperthermia, susceptibility to, 5 [RCV003456128]|Thyrotoxic periodic paralysis, susceptibility to, 1 [RCV003456129] |
Chr1:201047578 [GRCh38]
Chr1:201016706 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.2476T>A (p.Ser826Thr) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV000706523] |
Chr1:201069486 [GRCh38]
Chr1:201038614 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.1558A>C (p.Thr520Pro) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV000698565] |
Chr1:201077940 [GRCh38]
Chr1:201047068 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.3760C>G (p.Arg1254Gly) |
single nucleotide variant |
Congenital myopathy 18 [RCV003458505]|Hypokalemic periodic paralysis, type 1 [RCV000692454]|Hypokalemic periodic paralysis, type 1 [RCV002485655]|Hypokalemic periodic paralysis, type 1 [RCV003453449]|Malignant hyperthermia, susceptibility to, 5 [RCV003453450]|Thyrotoxic periodic paralysis, susceptibility to, 1 [RCV003453451] |
Chr1:201053494 [GRCh38]
Chr1:201022622 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.1385G>A (p.Arg462His) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV000765032]|Hypokalemic periodic paralysis, type 1 [RCV001078851]|Hypokalemic periodic paralysis, type 1 [RCV001098228]|not provided [RCV000711137] |
Chr1:201083170 [GRCh38]
Chr1:201052298 [GRCh37]
Chr1:1q32.1 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000069.3(CACNA1S):c.2753T>C (p.Val918Ala) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV000701817] |
Chr1:201065938 [GRCh38]
Chr1:201035066 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.1796del (p.Asn599fs) |
deletion |
Hypokalemic periodic paralysis, type 1 [RCV000687626] |
Chr1:201076951 [GRCh38]
Chr1:201046079 [GRCh37]
Chr1:1q32.1 |
pathogenic |
| NM_000069.3(CACNA1S):c.3609+6T>C |
single nucleotide variant |
Congenital myopathy 18 [RCV003446358]|Hypokalemic periodic paralysis, type 1 [RCV000695294]|Hypokalemic periodic paralysis, type 1 [RCV003446355]|Malignant hyperthermia, susceptibility to, 5 [RCV003446356]|Thyrotoxic periodic paralysis, susceptibility to, 1 [RCV003446357]|not provided [RCV003222105] |
Chr1:201058402 [GRCh38]
Chr1:201027530 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.2507A>G (p.Asp836Gly) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV000707268] |
Chr1:201069180 [GRCh38]
Chr1:201038308 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.2729G>A (p.Arg910Lys) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV000688155]|Hypokalemic periodic paralysis, type 1 [RCV002477536] |
Chr1:201066245 [GRCh38]
Chr1:201035373 [GRCh37]
Chr1:1q32.1 |
likely benign|uncertain significance |
| NM_000069.3(CACNA1S):c.1060C>T (p.Arg354Trp) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV000690461] |
Chr1:201085526 [GRCh38]
Chr1:201054654 [GRCh37]
Chr1:1q32.1 |
likely benign|uncertain significance |
| NM_000069.3(CACNA1S):c.503G>A (p.Arg168Gln) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV000690608] |
Chr1:201092010 [GRCh38]
Chr1:201061138 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.4690G>A (p.Glu1564Lys) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV000707372]|not provided [RCV001555937] |
Chr1:201044435 [GRCh38]
Chr1:201013563 [GRCh37]
Chr1:1q32.1 |
likely benign|uncertain significance |
| NM_000069.3(CACNA1S):c.3754G>A (p.Gly1252Arg) |
single nucleotide variant |
Congenital myopathy 18 [RCV003458506]|Hypokalemic periodic paralysis, type 1 [RCV000695515]|Hypokalemic periodic paralysis, type 1 [RCV002485686]|Hypokalemic periodic paralysis, type 1 [RCV003453461]|Malignant hyperthermia, susceptibility to, 5 [RCV003456130]|Thyrotoxic periodic paralysis, susceptibility to, 1 [RCV003453462] |
Chr1:201053500 [GRCh38]
Chr1:201022628 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.5267G>A (p.Ser1756Asn) |
single nucleotide variant |
Congenital myopathy 18 [RCV003458502]|Hypokalemic periodic paralysis, type 1 [RCV000688694]|Hypokalemic periodic paralysis, type 1 [RCV003144496]|Malignant hyperthermia, susceptibility to, 5 [RCV003453422]|Thyrotoxic periodic paralysis, susceptibility to, 1 [RCV003453423]|not provided [RCV003487273] |
Chr1:201040334 [GRCh38]
Chr1:201009462 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.3013A>T (p.Met1005Leu) |
single nucleotide variant |
CACNA1S-related condition [RCV003892548]|Hypokalemic periodic paralysis, type 1 [RCV000693824]|Hypokalemic periodic paralysis, type 1 [RCV002477571] |
Chr1:201061984 [GRCh38]
Chr1:201031112 [GRCh37]
Chr1:1q32.1 |
benign|uncertain significance |
| NM_000069.3(CACNA1S):c.2921T>A (p.Val974Glu) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV000696184] |
Chr1:201062076 [GRCh38]
Chr1:201031204 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.1912T>A (p.Cys638Ser) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV000696261] |
Chr1:201075531 [GRCh38]
Chr1:201044659 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.3802C>T (p.Pro1268Ser) |
single nucleotide variant |
Congenital myopathy 18 [RCV003458509]|Hypokalemic periodic paralysis, type 1 [RCV000705684]|Hypokalemic periodic paralysis, type 1 [RCV003453501]|Inborn genetic diseases [RCV003279028]|Malignant hyperthermia, susceptibility to, 5 [RCV003456136]|Thyrotoxic periodic paralysis, susceptibility to, 1 [RCV003456137] |
Chr1:201053268 [GRCh38]
Chr1:201022396 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.3437T>A (p.Met1146Lys) |
single nucleotide variant |
Congenital myopathy 18 [RCV003458508]|Hypokalemic periodic paralysis, type 1 [RCV000699953]|Hypokalemic periodic paralysis, type 1 [RCV002477605]|Hypokalemic periodic paralysis, type 1 [RCV003453478]|Malignant hyperthermia, susceptibility to, 5 [RCV003456133]|Thyrotoxic periodic paralysis, susceptibility to, 1 [RCV003453479] |
Chr1:201059277 [GRCh38]
Chr1:201028405 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.454A>G (p.Met152Val) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV000694312]|not provided [RCV003389726] |
Chr1:201092059 [GRCh38]
Chr1:201061187 [GRCh37]
Chr1:1q32.1 |
likely benign|uncertain significance |
| NM_000069.3(CACNA1S):c.3190G>A (p.Val1064Ile) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV000700646]|not provided [RCV001310554] |
Chr1:201061332 [GRCh38]
Chr1:201030460 [GRCh37]
Chr1:1q32.1 |
likely benign|uncertain significance |
| NM_000069.3(CACNA1S):c.1393+177G>A |
single nucleotide variant |
not provided [RCV001567028] |
Chr1:201082985 [GRCh38]
Chr1:201052113 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.5069del (p.Phe1690fs) |
deletion |
not provided [RCV000723120] |
Chr1:201041569 [GRCh38]
Chr1:201010697 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.3494T>A (p.Met1165Lys) |
single nucleotide variant |
not provided [RCV000723232] |
Chr1:201059220 [GRCh38]
Chr1:201028348 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.936C>G (p.Ile312Met) |
single nucleotide variant |
not provided [RCV001531030] |
Chr1:201087894 [GRCh38]
Chr1:201057022 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| GRCh37/hg19 1p36.33-q44(chr1:47851-249228449)x3 |
copy number gain |
not provided [RCV000736295] |
Chr1:47851..249228449 [GRCh37]
Chr1:1p36.33-q44 |
pathogenic |
| GRCh37/hg19 1p36.33-q44(chr1:82154-249218992)x3 |
copy number gain |
not provided [RCV000736305] |
Chr1:82154..249218992 [GRCh37]
Chr1:1p36.33-q44 |
pathogenic |
| GRCh37/hg19 1q25.3-41(chr1:185644663-221698833)x3 |
copy number gain |
not provided [RCV000749265] |
Chr1:185644663..221698833 [GRCh37]
Chr1:1q25.3-41 |
pathogenic |
| NM_000069.3(CACNA1S):c.3405C>T (p.Leu1135=) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV001477234] |
Chr1:201060667 [GRCh38]
Chr1:201029795 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.152+26G>T |
single nucleotide variant |
not provided [RCV001545074] |
Chr1:201112162 [GRCh38]
Chr1:201081290 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.1005-29C>T |
single nucleotide variant |
not provided [RCV001709311] |
Chr1:201085610 [GRCh38]
Chr1:201054738 [GRCh37]
Chr1:1q32.1 |
benign |
| NM_000069.3(CACNA1S):c.153-135G>A |
single nucleotide variant |
not provided [RCV001725615] |
Chr1:201110404 [GRCh38]
Chr1:201079532 [GRCh37]
Chr1:1q32.1 |
benign |
| NM_000069.3(CACNA1S):c.900G>A (p.Trp300Ter) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV002533842]|Hypokalemic periodic paralysis, type 1 [RCV003456139]|Malignant hyperthermia, susceptibility to, 5 [RCV003453573]|not provided [RCV000760649] |
Chr1:201089258 [GRCh38]
Chr1:201058386 [GRCh37]
Chr1:1q32.1 |
pathogenic|likely pathogenic |
| NM_000069.3(CACNA1S):c.1269G>A (p.Trp423Ter) |
single nucleotide variant |
not provided [RCV000760690] |
Chr1:201083286 [GRCh38]
Chr1:201052414 [GRCh37]
Chr1:1q32.1 |
likely pathogenic |
| NM_000069.3(CACNA1S):c.3053+148T>A |
single nucleotide variant |
not provided [RCV001576531] |
Chr1:201061796 [GRCh38]
Chr1:201030924 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.1632G>A (p.Ser544=) |
single nucleotide variant |
Congenital myopathy 18 [RCV003458581]|Hypokalemic periodic paralysis, type 1 [RCV002067601]|Hypokalemic periodic paralysis, type 1 [RCV003455020]|Malignant hyperthermia, susceptibility to, 5 [RCV003455021]|Thyrotoxic periodic paralysis, susceptibility to, 1 [RCV003455022]|not provided [RCV000994234] |
Chr1:201077115 [GRCh38]
Chr1:201046243 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.1591C>T (p.Arg531Cys) |
single nucleotide variant |
Congenital myopathy 18 [RCV003458582]|Hypokalemic periodic paralysis, type 1 [RCV001101909]|Hypokalemic periodic paralysis, type 1 [RCV001248214]|Malignant hyperthermia, susceptibility to, 5 [RCV003455023]|Thyrotoxic periodic paralysis, susceptibility to, 1 [RCV003455024] |
Chr1:201077907 [GRCh38]
Chr1:201047035 [GRCh37]
Chr1:1q32.1 |
likely benign|uncertain significance |
| NM_000069.3(CACNA1S):c.5512G>T (p.Ala1838Ser) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV001096062] |
Chr1:201039941 [GRCh38]
Chr1:201009069 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.1005-256G>A |
single nucleotide variant |
not provided [RCV001551228] |
Chr1:201085837 [GRCh38]
Chr1:201054965 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.1936G>A (p.Val646Ile) |
single nucleotide variant |
CACNA1S-related condition [RCV003945805]|Congenital myopathy 18 [RCV003458623]|Hypokalemic periodic paralysis, type 1 [RCV001096374]|Hypokalemic periodic paralysis, type 1 [RCV001873467]|Malignant hyperthermia, susceptibility to, 5 [RCV003456195]|Thyrotoxic periodic paralysis, susceptibility to, 1 [RCV003456196] |
Chr1:201075507 [GRCh38]
Chr1:201044635 [GRCh37]
Chr1:1q32.1 |
benign|likely benign|uncertain significance |
| NM_000069.3(CACNA1S):c.1915A>G (p.Ile639Val) |
single nucleotide variant |
Congenital myopathy 18 [RCV003458624]|Hypokalemic periodic paralysis, type 1 [RCV001096376]|Hypokalemic periodic paralysis, type 1 [RCV001873468]|Malignant hyperthermia, susceptibility to, 5 [RCV003455448]|Thyrotoxic periodic paralysis, susceptibility to, 1 [RCV003455449] |
Chr1:201075528 [GRCh38]
Chr1:201044656 [GRCh37]
Chr1:1q32.1 |
benign|likely benign|uncertain significance |
| NM_000069.3(CACNA1S):c.2227+299C>T |
single nucleotide variant |
not provided [RCV001548148] |
Chr1:201072456 [GRCh38]
Chr1:201041584 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.2892A>G (p.Thr964=) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV001096282]|Hypokalemic periodic paralysis, type 1 [RCV003106111] |
Chr1:201062476 [GRCh38]
Chr1:201031604 [GRCh37]
Chr1:1q32.1 |
likely benign|uncertain significance |
| NM_000069.3(CACNA1S):c.3053+170A>G |
single nucleotide variant |
not provided [RCV001549829] |
Chr1:201061774 [GRCh38]
Chr1:201030902 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.3862-223C>T |
single nucleotide variant |
not provided [RCV001576419] |
Chr1:201052871 [GRCh38]
Chr1:201021999 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.297T>A (p.Ile99=) |
single nucleotide variant |
CACNA1S-related condition [RCV003892815]|Congenital myopathy 18 [RCV003458557]|Hypokalemic periodic paralysis, type 1 [RCV001100105]|Hypokalemic periodic paralysis, type 1 [RCV001468766]|Malignant hyperthermia, susceptibility to, 5 [RCV003453785]|Thyrotoxic periodic paralysis, susceptibility to, 1 [RCV003453786] |
Chr1:201093983 [GRCh38]
Chr1:201063111 [GRCh37]
Chr1:1q32.1 |
benign|likely benign |
| NM_000069.3(CACNA1S):c.5370+7C>T |
single nucleotide variant |
Congenital myopathy 18 [RCV003446509]|Hypokalemic periodic paralysis, type 1 [RCV000866459]|Hypokalemic periodic paralysis, type 1 [RCV002501258]|Hypokalemic periodic paralysis, type 1 [RCV003446506]|Malignant hyperthermia, susceptibility to, 5 [RCV003446507]|Thyrotoxic periodic paralysis, susceptibility to, 1 [RCV003446508] |
Chr1:201040224 [GRCh38]
Chr1:201009352 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.975C>T (p.Ile325=) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV001393161] |
Chr1:201087855 [GRCh38]
Chr1:201056983 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.3696C>T (p.Ser1232=) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV000866676] |
Chr1:201053558 [GRCh38]
Chr1:201022686 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.4017C>T (p.Asp1339=) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV000865406] |
Chr1:201051080 [GRCh38]
Chr1:201020208 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.2979C>T (p.Ser993=) |
single nucleotide variant |
Congenital myopathy 18 [RCV003458563]|Hypokalemic periodic paralysis, type 1 [RCV000869377]|Hypokalemic periodic paralysis, type 1 [RCV002501294]|Hypokalemic periodic paralysis, type 1 [RCV003453795]|Malignant hyperthermia, susceptibility to, 5 [RCV003453796]|Thyrotoxic periodic paralysis, susceptibility to, 1 [RCV003453797] |
Chr1:201062018 [GRCh38]
Chr1:201031146 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.87G>T (p.Arg29=) |
single nucleotide variant |
Congenital myopathy 18 [RCV003458564]|Hypokalemic periodic paralysis, type 1 [RCV000870254]|Hypokalemic periodic paralysis, type 1 [RCV002501300]|Hypokalemic periodic paralysis, type 1 [RCV003453798]|Malignant hyperthermia, susceptibility to, 5 [RCV003456161]|Thyrotoxic periodic paralysis, susceptibility to, 1 [RCV003456162] |
Chr1:201112253 [GRCh38]
Chr1:201081381 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.1324G>A (p.Val442Ile) |
single nucleotide variant |
Congenital myopathy 18 [RCV003458559]|Hypokalemic periodic paralysis, type 1 [RCV000867111]|Hypokalemic periodic paralysis, type 1 [RCV001098229]|Malignant hyperthermia, susceptibility to, 5 [RCV003453788]|Thyrotoxic periodic paralysis, susceptibility to, 1 [RCV003453789] |
Chr1:201083231 [GRCh38]
Chr1:201052359 [GRCh37]
Chr1:1q32.1 |
benign|likely benign |
| NM_000069.3(CACNA1S):c.1398T>C (p.Ile466=) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV000875905] |
Chr1:201078100 [GRCh38]
Chr1:201047228 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.1677C>T (p.Ile559=) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV001410943] |
Chr1:201077070 [GRCh38]
Chr1:201046198 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.2418G>A (p.Leu806=) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV001489173] |
Chr1:201069544 [GRCh38]
Chr1:201038672 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.2854-4G>T |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV001462247] |
Chr1:201062518 [GRCh38]
Chr1:201031646 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.5058T>C (p.Tyr1686=) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV000981305] |
Chr1:201041580 [GRCh38]
Chr1:201010708 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.3585T>C (p.Ile1195=) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV001442675] |
Chr1:201058432 [GRCh38]
Chr1:201027560 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.3039C>T (p.Phe1013=) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV003768899] |
Chr1:201061958 [GRCh38]
Chr1:201031086 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.4032T>C (p.Tyr1344=) |
single nucleotide variant |
Congenital myopathy 18 [RCV003458566]|Hypokalemic periodic paralysis, type 1 [RCV000876217]|Hypokalemic periodic paralysis, type 1 [RCV002495320]|Hypokalemic periodic paralysis, type 1 [RCV003453804]|Malignant hyperthermia, susceptibility to, 5 [RCV003456164]|Thyrotoxic periodic paralysis, susceptibility to, 1 [RCV003456165] |
Chr1:201051065 [GRCh38]
Chr1:201020193 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.3876C>T (p.Ile1292=) |
single nucleotide variant |
Congenital myopathy 18 [RCV003458571]|Hypokalemic periodic paralysis, type 1 [RCV001494788]|Hypokalemic periodic paralysis, type 1 [RCV003456167]|Malignant hyperthermia, susceptibility to, 5 [RCV003456168]|Thyrotoxic periodic paralysis, susceptibility to, 1 [RCV003456169]|not provided [RCV000902823] |
Chr1:201052634 [GRCh38]
Chr1:201021762 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.3663C>T (p.Asn1221=) |
single nucleotide variant |
Congenital myopathy 18 [RCV003458561]|Hypokalemic periodic paralysis, type 1 [RCV000867500]|Hypokalemic periodic paralysis, type 1 [RCV001097932]|Malignant hyperthermia, susceptibility to, 5 [RCV003453790]|Thyrotoxic periodic paralysis, susceptibility to, 1 [RCV003453791] |
Chr1:201054508 [GRCh38]
Chr1:201023636 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.2262G>A (p.Leu754=) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV001499267] |
Chr1:201070370 [GRCh38]
Chr1:201039498 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.699C>T (p.Ile233=) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV000867937]|Hypokalemic periodic paralysis, type 1 [RCV001096583] |
Chr1:201089459 [GRCh38]
Chr1:201058587 [GRCh37]
Chr1:1q32.1 |
likely benign|uncertain significance |
| NM_000069.3(CACNA1S):c.2281C>T (p.Leu761=) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV000877607] |
Chr1:201070351 [GRCh38]
Chr1:201039479 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.5134+10T>G |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV000983408] |
Chr1:201041494 [GRCh38]
Chr1:201010622 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.1323C>T (p.Ile441=) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV001402388] |
Chr1:201083232 [GRCh38]
Chr1:201052360 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.1791T>C (p.Phe597=) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV001506184] |
Chr1:201076956 [GRCh38]
Chr1:201046084 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.2622G>T (p.Leu874=) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV001488434] |
Chr1:201066922 [GRCh38]
Chr1:201036050 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.789C>T (p.Gly263=) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV001412526] |
Chr1:201089369 [GRCh38]
Chr1:201058497 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.1314G>A (p.Val438=) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV000926262] |
Chr1:201083241 [GRCh38]
Chr1:201052369 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.2901G>A (p.Glu967=) |
single nucleotide variant |
Congenital myopathy 18 [RCV003458560]|Hypokalemic periodic paralysis, type 1 [RCV001496576]|Hypokalemic periodic paralysis, type 1 [RCV002507498]|Hypokalemic periodic paralysis, type 1 [RCV003456158]|Malignant hyperthermia, susceptibility to, 5 [RCV003456159]|Thyrotoxic periodic paralysis, susceptibility to, 1 [RCV003456160] |
Chr1:201062467 [GRCh38]
Chr1:201031595 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.681C>T (p.Tyr227=) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV000868105] |
Chr1:201091653 [GRCh38]
Chr1:201060781 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.3667-5C>T |
single nucleotide variant |
Congenital myopathy 18 [RCV003446505]|Hypokalemic periodic paralysis, type 1 [RCV000865987]|Hypokalemic periodic paralysis, type 1 [RCV002495255]|Hypokalemic periodic paralysis, type 1 [RCV003446502]|Malignant hyperthermia, susceptibility to, 5 [RCV003446503]|Thyrotoxic periodic paralysis, susceptibility to, 1 [RCV003446504] |
Chr1:201053592 [GRCh38]
Chr1:201022720 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.5415C>T (p.Asn1805=) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV000983681] |
Chr1:201040038 [GRCh38]
Chr1:201009166 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.2001G>A (p.Ala667=) |
single nucleotide variant |
CACNA1S-related condition [RCV003955658]|Congenital myopathy 18 [RCV003458562]|Hypokalemic periodic paralysis, type 1 [RCV000868193]|Hypokalemic periodic paralysis, type 1 [RCV003453792]|Malignant hyperthermia, susceptibility to, 5 [RCV003453793]|Thyrotoxic periodic paralysis, susceptibility to, 1 [RCV003453794]|not provided [RCV001531028] |
Chr1:201074568 [GRCh38]
Chr1:201043696 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.525G>T (p.Leu175=) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV001477645] |
Chr1:201091988 [GRCh38]
Chr1:201061116 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.1629G>A (p.Thr543=) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV001494721] |
Chr1:201077118 [GRCh38]
Chr1:201046246 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.685A>G (p.Ile229Val) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV001041558] |
Chr1:201091649 [GRCh38]
Chr1:201060777 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.632C>T (p.Ala211Val) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV001046948] |
Chr1:201091702 [GRCh38]
Chr1:201060830 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.4947del (p.Asp1650fs) |
deletion |
Hypokalemic periodic paralysis, type 1 [RCV001052593] |
Chr1:201043382 [GRCh38]
Chr1:201012510 [GRCh37]
Chr1:1q32.1 |
pathogenic |
| NM_000069.3(CACNA1S):c.143T>C (p.Val48Ala) |
single nucleotide variant |
Congenital myopathy 18 [RCV003458606]|Hypokalemic periodic paralysis, type 1 [RCV001054284]|Hypokalemic periodic paralysis, type 1 [RCV002481986]|Hypokalemic periodic paralysis, type 1 [RCV003456182]|Malignant hyperthermia, susceptibility to, 5 [RCV003455242]|Thyrotoxic periodic paralysis, susceptibility to, 1 [RCV003455243] |
Chr1:201112197 [GRCh38]
Chr1:201081325 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.4308G>T (p.Gly1436=) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV001054320] |
Chr1:201049033 [GRCh38]
Chr1:201018161 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.336C>G (p.Phe112Leu) |
single nucleotide variant |
Congenital myopathy 18 [RCV003458610]|Hypokalemic periodic paralysis, type 1 [RCV001057231]|Hypokalemic periodic paralysis, type 1 [RCV002489648]|Hypokalemic periodic paralysis, type 1 [RCV003456183]|Malignant hyperthermia, susceptibility to, 5 [RCV003455256]|Thyrotoxic periodic paralysis, susceptibility to, 1 [RCV003456184] |
Chr1:201093944 [GRCh38]
Chr1:201063072 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.409G>A (p.Val137Met) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV001057310]|Hypokalemic periodic paralysis, type 1 [RCV002505615] |
Chr1:201092104 [GRCh38]
Chr1:201061232 [GRCh37]
Chr1:1q32.1 |
likely benign|uncertain significance |
| NM_000069.3(CACNA1S):c.2770G>A (p.Ala924Thr) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV001058400] |
Chr1:201065921 [GRCh38]
Chr1:201035049 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.1669C>T (p.Arg557Cys) |
single nucleotide variant |
Congenital myopathy 18 [RCV003458611]|Hypokalemic periodic paralysis, type 1 [RCV001058669]|Hypokalemic periodic paralysis, type 1 [RCV003456185]|Malignant hyperthermia, susceptibility to, 5 [RCV003455268]|Thyrotoxic periodic paralysis, susceptibility to, 1 [RCV003456186]|not provided [RCV002284460] |
Chr1:201077078 [GRCh38]
Chr1:201046206 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.3774G>C (p.Trp1258Cys) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV001067800] |
Chr1:201053480 [GRCh38]
Chr1:201022608 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.1919A>G (p.Tyr640Cys) |
single nucleotide variant |
Congenital myopathy 18 [RCV003458615]|Hypokalemic periodic paralysis, type 1 [RCV001068736]|Hypokalemic periodic paralysis, type 1 [RCV002505653]|Hypokalemic periodic paralysis, type 1 [RCV003455295]|Malignant hyperthermia, susceptibility to, 5 [RCV003455296]|Thyrotoxic periodic paralysis, susceptibility to, 1 [RCV003455297] |
Chr1:201075524 [GRCh38]
Chr1:201044652 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.2542G>A (p.Val848Ile) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV001069380] |
Chr1:201069145 [GRCh38]
Chr1:201038273 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.736G>A (p.Ala246Thr) |
single nucleotide variant |
Congenital myopathy 18 [RCV003458584]|Hypokalemic periodic paralysis, type 1 [RCV001299221]|Hypokalemic periodic paralysis, type 1 [RCV002479172]|Hypokalemic periodic paralysis, type 1 [RCV003455034]|Malignant hyperthermia, susceptibility to, 5 [RCV003456173]|Thyrotoxic periodic paralysis, susceptibility to, 1 [RCV003456174]|not provided [RCV000996100] |
Chr1:201089422 [GRCh38]
Chr1:201058550 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.2632G>A (p.Val878Met) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV001856184]|not provided [RCV001766618]|not specified [RCV000780079] |
Chr1:201066912 [GRCh38]
Chr1:201036040 [GRCh37]
Chr1:1q32.1 |
likely benign|uncertain significance |
| NM_000069.3(CACNA1S):c.2157+1G>A |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV000790967] |
Chr1:201073548 [GRCh38]
Chr1:201042676 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.1180G>A (p.Asp394Asn) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV000807536]|Hypokalemic periodic paralysis, type 1 [RCV002507400]|Malignant hyperthermia, susceptibility to, 5 [RCV003517271] |
Chr1:201085002 [GRCh38]
Chr1:201054130 [GRCh37]
Chr1:1q32.1 |
benign|uncertain significance |
| NM_000069.3(CACNA1S):c.732del (p.Cys245fs) |
deletion |
Hypokalemic periodic paralysis, type 1 [RCV000801288] |
Chr1:201089426 [GRCh38]
Chr1:201058554 [GRCh37]
Chr1:1q32.1 |
pathogenic |
| NM_000069.3(CACNA1S):c.3525+1G>A |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV000809616] |
Chr1:201059188 [GRCh38]
Chr1:201028316 [GRCh37]
Chr1:1q32.1 |
likely pathogenic |
| NM_000069.3(CACNA1S):c.2157+198_2157+200del |
microsatellite |
not provided [RCV000837802] |
Chr1:201073349..201073351 [GRCh38]
Chr1:201042477..201042479 [GRCh37]
Chr1:1q32.1 |
benign |
| NM_000069.3(CACNA1S):c.2812del (p.Leu938fs) |
deletion |
Hypokalemic periodic paralysis, type 1 [RCV000812848]|Hypokalemic periodic paralysis, type 1 [RCV002507418]|Hypokalemic periodic paralysis, type 1 [RCV003453707]|Malignant hyperthermia, susceptibility to, 5 [RCV003453708] |
Chr1:201065879 [GRCh38]
Chr1:201035007 [GRCh37]
Chr1:1q32.1 |
pathogenic|likely pathogenic |
| NM_000069.3(CACNA1S):c.259-149dup |
duplication |
not provided [RCV000840548] |
Chr1:201094163..201094164 [GRCh38]
Chr1:201063291..201063292 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.2854-11_2854-10del |
deletion |
Hypokalemic periodic paralysis, type 1 [RCV001405133] |
Chr1:201062524..201062525 [GRCh38]
Chr1:201031652..201031653 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.1719C>T (p.Phe573=) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV000868506] |
Chr1:201077028 [GRCh38]
Chr1:201046156 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.5004C>T (p.Val1668=) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV000873392] |
Chr1:201043325 [GRCh38]
Chr1:201012453 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.4704C>T (p.Pro1568=) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV001414439] |
Chr1:201044421 [GRCh38]
Chr1:201013549 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.1156C>T (p.Leu386=) |
single nucleotide variant |
CACNA1S-related condition [RCV003970484]|Hypokalemic periodic paralysis, type 1 [RCV001465813] |
Chr1:201085026 [GRCh38]
Chr1:201054154 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.1239T>C (p.His413=) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV001504102] |
Chr1:201083316 [GRCh38]
Chr1:201052444 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.3390C>G (p.Leu1130=) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV000863365] |
Chr1:201060682 [GRCh38]
Chr1:201029810 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.1305T>C (p.Tyr435=) |
single nucleotide variant |
Congenital myopathy 18 [RCV003458556]|Hypokalemic periodic paralysis, type 1 [RCV000862024]|Hypokalemic periodic paralysis, type 1 [RCV002507465]|Hypokalemic periodic paralysis, type 1 [RCV003456155]|Malignant hyperthermia, susceptibility to, 5 [RCV003453783]|Thyrotoxic periodic paralysis, susceptibility to, 1 [RCV003453784] |
Chr1:201083250 [GRCh38]
Chr1:201052378 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.2228-4A>G |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV001414086] |
Chr1:201070408 [GRCh38]
Chr1:201039536 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.259-4A>C |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV001479053] |
Chr1:201094025 [GRCh38]
Chr1:201063153 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.2906+10G>T |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV001482339] |
Chr1:201062452 [GRCh38]
Chr1:201031580 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.3084G>A (p.Ala1028=) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV001453343] |
Chr1:201061438 [GRCh38]
Chr1:201030566 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.1740C>T (p.Leu580=) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV001455005] |
Chr1:201077007 [GRCh38]
Chr1:201046135 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.5520G>A (p.Glu1840=) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV000921330] |
Chr1:201039933 [GRCh38]
Chr1:201009061 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.4374C>T (p.Asp1458=) |
single nucleotide variant |
Congenital myopathy 18 [RCV003458554]|Hypokalemic periodic paralysis, type 1 [RCV000861729]|Hypokalemic periodic paralysis, type 1 [RCV002501198]|Hypokalemic periodic paralysis, type 1 [RCV003453778]|Malignant hyperthermia, susceptibility to, 5 [RCV003453779]|Thyrotoxic periodic paralysis, susceptibility to, 1 [RCV003453780] |
Chr1:201048649 [GRCh38]
Chr1:201017777 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.3429G>A (p.Ser1143=) |
single nucleotide variant |
Congenital myopathy 18 [RCV003458567]|Hypokalemic periodic paralysis, type 1 [RCV001504931]|Hypokalemic periodic paralysis, type 1 [RCV002507539]|Hypokalemic periodic paralysis, type 1 [RCV003453809]|Malignant hyperthermia, susceptibility to, 5 [RCV003454922]|Thyrotoxic periodic paralysis, susceptibility to, 1 [RCV003454923] |
Chr1:201059285 [GRCh38]
Chr1:201028413 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.852C>T (p.Thr284=) |
single nucleotide variant |
Congenital myopathy 18 [RCV003458558]|Hypokalemic periodic paralysis, type 1 [RCV000867033]|Hypokalemic periodic paralysis, type 1 [RCV002507496]|Hypokalemic periodic paralysis, type 1 [RCV003456156]|Malignant hyperthermia, susceptibility to, 5 [RCV003453787]|Thyrotoxic periodic paralysis, susceptibility to, 1 [RCV003456157] |
Chr1:201089306 [GRCh38]
Chr1:201058434 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.2838C>T (p.Gly946=) |
single nucleotide variant |
Congenital myopathy 18 [RCV003458569]|Hypokalemic periodic paralysis, type 1 [RCV000887743]|Hypokalemic periodic paralysis, type 1 [RCV002501438]|Hypokalemic periodic paralysis, type 1 [RCV003454930]|Malignant hyperthermia, susceptibility to, 5 [RCV003454931]|Thyrotoxic periodic paralysis, susceptibility to, 1 [RCV003454932]|not provided [RCV003413713] |
Chr1:201065853 [GRCh38]
Chr1:201034981 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.3255+10C>T |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV001484810] |
Chr1:201061257 [GRCh38]
Chr1:201030385 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.2746-8G>C |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV001440269] |
Chr1:201065953 [GRCh38]
Chr1:201035081 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.2207A>T (p.Tyr736Phe) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV000815619] |
Chr1:201072775 [GRCh38]
Chr1:201041903 [GRCh37]
Chr1:1q32.1 |
likely benign|uncertain significance |
| NM_000069.3(CACNA1S):c.2380C>T (p.Arg794Cys) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV000820892]|Hypokalemic periodic paralysis, type 1 [RCV002495172] |
Chr1:201069582 [GRCh38]
Chr1:201038710 [GRCh37]
Chr1:1q32.1 |
likely benign|uncertain significance |
| NM_000069.3(CACNA1S):c.1004+205A>G |
single nucleotide variant |
not provided [RCV000841219] |
Chr1:201087621 [GRCh38]
Chr1:201056749 [GRCh37]
Chr1:1q32.1 |
benign |
| NM_000069.3(CACNA1S):c.4166G>A (p.Arg1389Gln) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV000822773]|Malignant hyperthermia, susceptibility to, 5 [RCV003517272]|not provided [RCV001508030] |
Chr1:201050464 [GRCh38]
Chr1:201019592 [GRCh37]
Chr1:1q32.1 |
likely benign|uncertain significance |
| NM_000069.3(CACNA1S):c.4731C>G (p.Asp1577Glu) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV000797715]|Malignant hyperthermia, susceptibility to, 5 [RCV003517268] |
Chr1:201044394 [GRCh38]
Chr1:201013522 [GRCh37]
Chr1:1q32.1 |
likely benign|uncertain significance |
| NM_000069.3(CACNA1S):c.3686G>A (p.Arg1229His) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV000813312]|Hypokalemic periodic paralysis, type 1 [RCV002495139]|not provided [RCV001776027] |
Chr1:201053568 [GRCh38]
Chr1:201022696 [GRCh37]
Chr1:1q32.1 |
benign|uncertain significance |
| NM_000069.3(CACNA1S):c.5049-145A>G |
single nucleotide variant |
not provided [RCV000837818] |
Chr1:201041734 [GRCh38]
Chr1:201010862 [GRCh37]
Chr1:1q32.1 |
benign |
| NM_000069.3(CACNA1S):c.5227-54T>C |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV001554558]|not provided [RCV000837822] |
Chr1:201040428 [GRCh38]
Chr1:201009556 [GRCh37]
Chr1:1q32.1 |
benign |
| NC_000001.11:g.201069467G>A |
single nucleotide variant |
not provided [RCV000842082] |
Chr1:201038595 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.1151-38C>A |
single nucleotide variant |
not provided [RCV000837874] |
Chr1:201085069 [GRCh38]
Chr1:201054197 [GRCh37]
Chr1:1q32.1 |
benign |
| NM_000069.3(CACNA1S):c.1393+91A>G |
single nucleotide variant |
not provided [RCV000837875] |
Chr1:201083071 [GRCh38]
Chr1:201052199 [GRCh37]
Chr1:1q32.1 |
benign |
| NM_000069.3(CACNA1S):c.2064-213C>T |
single nucleotide variant |
not provided [RCV000837876] |
Chr1:201073855 [GRCh38]
Chr1:201042983 [GRCh37]
Chr1:1q32.1 |
benign |
| NM_000069.3(CACNA1S):c.2157+59C>T |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV001554668]|not provided [RCV000837877] |
Chr1:201073490 [GRCh38]
Chr1:201042618 [GRCh37]
Chr1:1q32.1 |
benign |
| NM_000069.3(CACNA1S):c.2658-163C>A |
single nucleotide variant |
not provided [RCV000837878] |
Chr1:201066479 [GRCh38]
Chr1:201035607 [GRCh37]
Chr1:1q32.1 |
benign |
| NM_000069.3(CACNA1S):c.2746-123del |
deletion |
not provided [RCV000837879] |
Chr1:201066068 [GRCh38]
Chr1:201035196 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.3054-72C>T |
single nucleotide variant |
not provided [RCV000837880] |
Chr1:201061540 [GRCh38]
Chr1:201030668 [GRCh37]
Chr1:1q32.1 |
benign |
| NC_000001.11:g.201112570T>C |
single nucleotide variant |
not provided [RCV000839815] |
Chr1:201081698 [GRCh37]
Chr1:1q32.1 |
benign |
| NC_000001.11:g.201110107C>T |
single nucleotide variant |
not provided [RCV000839816] |
Chr1:201079235 [GRCh37]
Chr1:1q32.1 |
benign |
| NM_000069.3(CACNA1S):c.897C>G (p.Tyr299Ter) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV000804884] |
Chr1:201089261 [GRCh38]
Chr1:201058389 [GRCh37]
Chr1:1q32.1 |
pathogenic |
| NM_000069.3(CACNA1S):c.4798-2A>G |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV000792372]|Hypokalemic periodic paralysis, type 1 [RCV001784407]|Malignant hyperthermia, susceptibility to, 5 [RCV003446434]|not provided [RCV002473138] |
Chr1:201043533 [GRCh38]
Chr1:201012661 [GRCh37]
Chr1:1q32.1 |
likely pathogenic |
| NM_000069.3(CACNA1S):c.896A>T (p.Tyr299Phe) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV000807001]|Malignant hyperthermia, susceptibility to, 5 [RCV003517270] |
Chr1:201089262 [GRCh38]
Chr1:201058390 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.2361-269A>C |
single nucleotide variant |
not provided [RCV000833214] |
Chr1:201069870 [GRCh38]
Chr1:201038998 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.3862-251T>A |
single nucleotide variant |
not provided [RCV000833215] |
Chr1:201052899 [GRCh38]
Chr1:201022027 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.3526-197A>G |
single nucleotide variant |
not provided [RCV000837968] |
Chr1:201058688 [GRCh38]
Chr1:201027816 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.2658-44T>A |
single nucleotide variant |
not provided [RCV000839935] |
Chr1:201066360 [GRCh38]
Chr1:201035488 [GRCh37]
Chr1:1q32.1 |
benign |
| NM_000069.3(CACNA1S):c.1619+9C>T |
single nucleotide variant |
Congenital myopathy 18 [RCV003446513]|Hypokalemic periodic paralysis, type 1 [RCV001437601]|Hypokalemic periodic paralysis, type 1 [RCV002501295]|Hypokalemic periodic paralysis, type 1 [RCV003446510]|Malignant hyperthermia, susceptibility to, 5 [RCV003446511]|Thyrotoxic periodic paralysis, susceptibility to, 1 [RCV003446512] |
Chr1:201077870 [GRCh38]
Chr1:201046998 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.3610-167A>C |
single nucleotide variant |
not provided [RCV000840023] |
Chr1:201054728 [GRCh38]
Chr1:201023856 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.4669-150C>T |
single nucleotide variant |
not provided [RCV000829525] |
Chr1:201044606 [GRCh38]
Chr1:201013734 [GRCh37]
Chr1:1q32.1 |
benign |
| NM_000069.3(CACNA1S):c.258+199_258+200dup |
duplication |
not provided [RCV000838278] |
Chr1:201109963..201109964 [GRCh38]
Chr1:201079091..201079092 [GRCh37]
Chr1:1q32.1 |
benign |
| NM_000069.3(CACNA1S):c.5048+8C>T |
single nucleotide variant |
Congenital myopathy 18 [RCV003446478]|Hypokalemic periodic paralysis, type 1 [RCV001401421]|Hypokalemic periodic paralysis, type 1 [RCV002478941]|Hypokalemic periodic paralysis, type 1 [RCV003446475]|Malignant hyperthermia, susceptibility to, 5 [RCV003446476]|Thyrotoxic periodic paralysis, susceptibility to, 1 [RCV003446477]|not provided [RCV000840165] |
Chr1:201043273 [GRCh38]
Chr1:201012401 [GRCh37]
Chr1:1q32.1 |
likely benign|conflicting interpretations of pathogenicity |
| NM_000069.3(CACNA1S):c.4871_4874del (p.Asn1624fs) |
deletion |
Hypokalemic periodic paralysis, type 1 [RCV000824210] |
Chr1:201043455..201043458 [GRCh38]
Chr1:201012583..201012586 [GRCh37]
Chr1:1q32.1 |
pathogenic |
| NM_000069.3(CACNA1S):c.1233-40C>T |
single nucleotide variant |
not provided [RCV000829612] |
Chr1:201083362 [GRCh38]
Chr1:201052490 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.2063+253C>T |
single nucleotide variant |
not provided [RCV000832857] |
Chr1:201074253 [GRCh38]
Chr1:201043381 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.2551-286C>G |
single nucleotide variant |
not provided [RCV000832858] |
Chr1:201067279 [GRCh38]
Chr1:201036407 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.5105G>C (p.Arg1702Pro) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV000801799]|Hypokalemic periodic paralysis, type 1 [RCV002495076]|not provided [RCV002282371] |
Chr1:201041533 [GRCh38]
Chr1:201010661 [GRCh37]
Chr1:1q32.1 |
likely benign|uncertain significance |
| NM_000069.3(CACNA1S):c.3988del (p.Leu1330fs) |
deletion |
Hypokalemic periodic paralysis, type 1 [RCV001869162]|not provided [RCV000782225] |
Chr1:201051109 [GRCh38]
Chr1:201020237 [GRCh37]
Chr1:1q32.1 |
pathogenic|uncertain significance |
| NM_000069.3(CACNA1S):c.2491-1G>T |
single nucleotide variant |
not provided [RCV000782245] |
Chr1:201069197 [GRCh38]
Chr1:201038325 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.2269C>T (p.Arg757Ter) |
single nucleotide variant |
Congenital myopathy 18 [RCV003458516]|Hypokalemic periodic paralysis, type 1 [RCV001869163]|Hypokalemic periodic paralysis, type 1 [RCV002493430]|Hypokalemic periodic paralysis, type 1 [RCV003453616]|Malignant hyperthermia, susceptibility to, 5 [RCV003456143]|Thyrotoxic periodic paralysis, susceptibility to, 1 [RCV003456144]|not provided [RCV000782246] |
Chr1:201070363 [GRCh38]
Chr1:201039491 [GRCh37]
Chr1:1q32.1 |
pathogenic|likely pathogenic|uncertain significance |
| NM_000069.3(CACNA1S):c.3795G>T (p.Gln1265His) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV001377927]|Hypokalemic periodic paralysis, type 1 [RCV002493431]|Hypokalemic periodic paralysis, type 1 [RCV003453617]|Malignant hyperthermia, susceptibility to, 5 [RCV003453618]|not provided [RCV000782249] |
Chr1:201053459 [GRCh38]
Chr1:201022587 [GRCh37]
Chr1:1q32.1 |
likely pathogenic|uncertain significance |
| NM_000069.3(CACNA1S):c.2593C>T (p.Arg865Cys) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV000800242]|Hypokalemic periodic paralysis, type 1 [RCV002495065]|Malignant hyperthermia, susceptibility to, 5 [RCV003517269]|not provided [RCV003489884] |
Chr1:201066951 [GRCh38]
Chr1:201036079 [GRCh37]
Chr1:1q32.1 |
benign|uncertain significance |
| NM_000069.3(CACNA1S):c.259-43C>T |
single nucleotide variant |
not provided [RCV000838637] |
Chr1:201094064 [GRCh38]
Chr1:201063192 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.3286C>T (p.Arg1096Cys) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV000808129] |
Chr1:201060786 [GRCh38]
Chr1:201029914 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.4972C>T (p.Arg1658Cys) |
single nucleotide variant |
CACNA1S-related condition [RCV003975321]|Hypokalemic periodic paralysis, type 1 [RCV000791823]|Inborn genetic diseases [RCV002535852]|not provided [RCV001805856] |
Chr1:201043357 [GRCh38]
Chr1:201012485 [GRCh37]
Chr1:1q32.1 |
likely benign|uncertain significance |
| NM_000069.3(CACNA1S):c.4798-278G>A |
single nucleotide variant |
not provided [RCV000826833] |
Chr1:201043809 [GRCh38]
Chr1:201012937 [GRCh37]
Chr1:1q32.1 |
benign |
| NM_000069.3(CACNA1S):c.3569T>A (p.Val1190Asp) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV000815206] |
Chr1:201058448 [GRCh38]
Chr1:201027576 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.152+56G>A |
single nucleotide variant |
not provided [RCV000836876] |
Chr1:201112132 [GRCh38]
Chr1:201081260 [GRCh37]
Chr1:1q32.1 |
benign |
| NM_000069.3(CACNA1S):c.398+149A>G |
single nucleotide variant |
not provided [RCV000840549] |
Chr1:201093733 [GRCh38]
Chr1:201062861 [GRCh37]
Chr1:1q32.1 |
benign |
| NM_000069.3(CACNA1S):c.399-145T>A |
single nucleotide variant |
not provided [RCV000840550] |
Chr1:201092259 [GRCh38]
Chr1:201061387 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.3849C>T (p.Val1283=) |
single nucleotide variant |
not provided [RCV000994225] |
Chr1:201053221 [GRCh38]
Chr1:201022349 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.2745+9G>A |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV000937639] |
Chr1:201066220 [GRCh38]
Chr1:201035348 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.3954-303A>C |
single nucleotide variant |
not provided [RCV000826832] |
Chr1:201051446 [GRCh38]
Chr1:201020574 [GRCh37]
Chr1:1q32.1 |
benign |
| NM_000069.3(CACNA1S):c.2063+331del |
deletion |
not provided [RCV000830248] |
Chr1:201074175 [GRCh38]
Chr1:201043303 [GRCh37]
Chr1:1q32.1 |
benign |
| NM_000069.3(CACNA1S):c.3983T>G (p.Ile1328Ser) |
single nucleotide variant |
Congenital myopathy 18 [RCV003458527]|Hypokalemic periodic paralysis, type 1 [RCV000799017]|Hypokalemic periodic paralysis, type 1 [RCV001809815]|Inborn genetic diseases [RCV003372852]|Malignant hyperthermia, susceptibility to, 5 [RCV003456147]|Thyrotoxic periodic paralysis, susceptibility to, 1 [RCV003453656] |
Chr1:201051114 [GRCh38]
Chr1:201020242 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.2395A>T (p.Thr799Ser) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV000822237] |
Chr1:201069567 [GRCh38]
Chr1:201038695 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.1948+279G>A |
single nucleotide variant |
not provided [RCV000826828] |
Chr1:201075216 [GRCh38]
Chr1:201044344 [GRCh37]
Chr1:1q32.1 |
benign |
| NM_000069.3(CACNA1S):c.4241+183G>A |
single nucleotide variant |
not provided [RCV000833781] |
Chr1:201050206 [GRCh38]
Chr1:201019334 [GRCh37]
Chr1:1q32.1 |
benign |
| NM_000069.3(CACNA1S):c.3609+11G>A |
single nucleotide variant |
not provided [RCV000840936] |
Chr1:201058397 [GRCh38]
Chr1:201027525 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.4573G>A (p.Ala1525Thr) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV000813462] |
Chr1:201047210 [GRCh38]
Chr1:201016338 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.3667-319G>C |
single nucleotide variant |
not provided [RCV000827842] |
Chr1:201053906 [GRCh38]
Chr1:201023034 [GRCh37]
Chr1:1q32.1 |
benign |
| NM_000069.3(CACNA1S):c.325G>A (p.Gly109Ser) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV000795463] |
Chr1:201093955 [GRCh38]
Chr1:201063083 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.4987A>G (p.Asn1663Asp) |
single nucleotide variant |
CACNA1S-related condition [RCV003938175]|Hypokalemic periodic paralysis, type 1 [RCV000819326] |
Chr1:201043342 [GRCh38]
Chr1:201012470 [GRCh37]
Chr1:1q32.1 |
likely benign|uncertain significance |
| NM_000069.3(CACNA1S):c.1005-154C>T |
single nucleotide variant |
not provided [RCV000837766] |
Chr1:201085735 [GRCh38]
Chr1:201054863 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.694+243G>A |
single nucleotide variant |
not provided [RCV000837795] |
Chr1:201091397 [GRCh38]
Chr1:201060525 [GRCh37]
Chr1:1q32.1 |
benign |
| NM_000069.3(CACNA1S):c.695-101A>G |
single nucleotide variant |
not provided [RCV000837797] |
Chr1:201089564 [GRCh38]
Chr1:201058692 [GRCh37]
Chr1:1q32.1 |
benign |
| NM_000069.3(CACNA1S):c.1233-190C>T |
single nucleotide variant |
not provided [RCV000837798] |
Chr1:201083512 [GRCh38]
Chr1:201052640 [GRCh37]
Chr1:1q32.1 |
benign |
| NM_000069.3(CACNA1S):c.1620-133T>C |
single nucleotide variant |
not provided [RCV000837799] |
Chr1:201077260 [GRCh38]
Chr1:201046388 [GRCh37]
Chr1:1q32.1 |
benign |
| NM_000069.3(CACNA1S):c.4797+120A>G |
single nucleotide variant |
not provided [RCV000837816] |
Chr1:201044208 [GRCh38]
Chr1:201013336 [GRCh37]
Chr1:1q32.1 |
benign |
| NM_000069.3(CACNA1S):c.2551-192A>G |
single nucleotide variant |
not provided [RCV000837966] |
Chr1:201067185 [GRCh38]
Chr1:201036313 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.153-321G>A |
single nucleotide variant |
not provided [RCV000830434] |
Chr1:201110590 [GRCh38]
Chr1:201079718 [GRCh37]
Chr1:1q32.1 |
benign |
| NM_000069.3(CACNA1S):c.258+271T>C |
single nucleotide variant |
not provided [RCV000830438] |
Chr1:201109893 [GRCh38]
Chr1:201079021 [GRCh37]
Chr1:1q32.1 |
benign |
| NM_000069.3(CACNA1S):c.1282A>G (p.Ile428Val) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV000799295] |
Chr1:201083273 [GRCh38]
Chr1:201052401 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.2551-76C>T |
single nucleotide variant |
not provided [RCV000837967] |
Chr1:201067069 [GRCh38]
Chr1:201036197 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.153-166G>A |
single nucleotide variant |
not provided [RCV000838277] |
Chr1:201110435 [GRCh38]
Chr1:201079563 [GRCh37]
Chr1:1q32.1 |
benign |
| NM_000069.3(CACNA1S):c.2296C>A (p.Leu766Met) |
single nucleotide variant |
CACNA1S-related condition [RCV003908099]|Congenital myopathy 18 [RCV003458533]|Hypokalemic periodic paralysis, type 1 [RCV000803519]|Hypokalemic periodic paralysis, type 1 [RCV003453673]|Malignant hyperthermia, susceptibility to, 5 [RCV003453674]|Thyrotoxic periodic paralysis, susceptibility to, 1 [RCV003453675]|not provided [RCV001585731] |
Chr1:201070336 [GRCh38]
Chr1:201039464 [GRCh37]
Chr1:1q32.1 |
likely benign|uncertain significance |
| NM_000069.3(CACNA1S):c.2726A>G (p.Asn909Ser) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV000820172]|Hypokalemic periodic paralysis, type 1 [RCV002495170]|not provided [RCV001571550] |
Chr1:201066248 [GRCh38]
Chr1:201035376 [GRCh37]
Chr1:1q32.1 |
likely benign|uncertain significance |
| NM_000069.3(CACNA1S):c.755G>A (p.Arg252His) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV000803971] |
Chr1:201089403 [GRCh38]
Chr1:201058531 [GRCh37]
Chr1:1q32.1 |
benign|uncertain significance |
| NM_000069.3(CACNA1S):c.610C>G (p.Leu204Val) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV000822904] |
Chr1:201091724 [GRCh38]
Chr1:201060852 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.5129T>C (p.Val1710Ala) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV000796914]|Hypokalemic periodic paralysis, type 1 [RCV002501055] |
Chr1:201041509 [GRCh38]
Chr1:201010637 [GRCh37]
Chr1:1q32.1 |
likely benign|uncertain significance |
| NM_000069.3(CACNA1S):c.224C>T (p.Pro75Leu) |
single nucleotide variant |
Congenital myopathy 18 [RCV003458536]|Hypokalemic periodic paralysis, type 1 [RCV000806923]|Hypokalemic periodic paralysis, type 1 [RCV003453685]|Malignant hyperthermia, susceptibility to, 5 [RCV003453686]|Thyrotoxic periodic paralysis, susceptibility to, 1 [RCV003453687]|not provided [RCV002267029] |
Chr1:201110198 [GRCh38]
Chr1:201079326 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.86G>A (p.Arg29Gln) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV000813617] |
Chr1:201112254 [GRCh38]
Chr1:201081382 [GRCh37]
Chr1:1q32.1 |
benign|uncertain significance |
| NM_000069.3(CACNA1S):c.2970G>A (p.Trp990Ter) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV000797345] |
Chr1:201062027 [GRCh38]
Chr1:201031155 [GRCh37]
Chr1:1q32.1 |
pathogenic |
| NM_000069.3(CACNA1S):c.4786G>A (p.Gly1596Arg) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV000807837]|Hypokalemic periodic paralysis, type 1 [RCV002487735]|Inborn genetic diseases [RCV003353041] |
Chr1:201044339 [GRCh38]
Chr1:201013467 [GRCh37]
Chr1:1q32.1 |
benign|uncertain significance |
| NM_000069.3(CACNA1S):c.2086GAG[1] (p.Glu697del) |
microsatellite |
Hypokalemic periodic paralysis, type 1 [RCV000817775] |
Chr1:201073615..201073617 [GRCh38]
Chr1:201042743..201042745 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.2(CACNA1S):c.-310G>C |
single nucleotide variant |
not provided [RCV000839549] |
Chr1:201112649 [GRCh38]
Chr1:201081777 [GRCh37]
Chr1:1q32.1 |
benign |
| NM_000069.3(CACNA1S):c.4339-14G>A |
single nucleotide variant |
Congenital myopathy 18 [RCV003446488]|Hypokalemic periodic paralysis, type 1 [RCV002064399]|Hypokalemic periodic paralysis, type 1 [RCV003446485]|Malignant hyperthermia, susceptibility to, 5 [RCV003446486]|Thyrotoxic periodic paralysis, susceptibility to, 1 [RCV003446487]|not provided [RCV000842394] |
Chr1:201048698 [GRCh38]
Chr1:201017826 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.4113+1G>A |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV001378977]|Hypokalemic periodic paralysis, type 1 [RCV003141766]|Malignant hyperthermia, susceptibility to, 5 [RCV003446433]|not provided [RCV000782244] |
Chr1:201050983 [GRCh38]
Chr1:201020111 [GRCh37]
Chr1:1q32.1 |
likely pathogenic|uncertain significance |
| NM_000069.3(CACNA1S):c.1592G>A (p.Arg531His) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV000797737]|Hypokalemic periodic paralysis, type 1 [RCV001101908] |
Chr1:201077906 [GRCh38]
Chr1:201047034 [GRCh37]
Chr1:1q32.1 |
likely benign|uncertain significance |
| NM_000069.3(CACNA1S):c.3954-89C>T |
single nucleotide variant |
not provided [RCV000839938] |
Chr1:201051232 [GRCh38]
Chr1:201020360 [GRCh37]
Chr1:1q32.1 |
benign |
| NM_000069.3(CACNA1S):c.1847G>A (p.Trp616Ter) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV000824015]|Hypokalemic periodic paralysis, type 1 [RCV002501148]|Hypokalemic periodic paralysis, type 1 [RCV003453734]|Malignant hyperthermia, susceptibility to, 5 [RCV003456151] |
Chr1:201075596 [GRCh38]
Chr1:201044724 [GRCh37]
Chr1:1q32.1 |
pathogenic|likely pathogenic |
| NM_000069.3(CACNA1S):c.3610-291C>G |
single nucleotide variant |
not provided [RCV000826831] |
Chr1:201054852 [GRCh38]
Chr1:201023980 [GRCh37]
Chr1:1q32.1 |
benign |
| NM_000069.3(CACNA1S):c.1233-111G>A |
single nucleotide variant |
not provided [RCV000837261] |
Chr1:201083433 [GRCh38]
Chr1:201052561 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.4441+22dup |
duplication |
not provided [RCV000829524] |
Chr1:201048559..201048560 [GRCh38]
Chr1:201017687..201017688 [GRCh37]
Chr1:1q32.1 |
benign |
| NM_000069.3(CACNA1S):c.1149A>G (p.Glu383=) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV000805807] |
Chr1:201085437 [GRCh38]
Chr1:201054565 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.1949-99_1949-98del |
microsatellite |
Hypokalemic periodic paralysis, type 1 [RCV001554669]|not provided [RCV000837801] |
Chr1:201074718..201074719 [GRCh38]
Chr1:201043846..201043847 [GRCh37]
Chr1:1q32.1 |
benign |
| NM_000069.3(CACNA1S):c.785G>A (p.Arg262Gln) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV001101987]|Hypokalemic periodic paralysis, type 1 [RCV002555964] |
Chr1:201089373 [GRCh38]
Chr1:201058501 [GRCh37]
Chr1:1q32.1 |
likely benign|uncertain significance |
| NM_000069.3(CACNA1S):c.2931C>T (p.Asp977=) |
single nucleotide variant |
Congenital myopathy 18 [RCV003458621]|Hypokalemic periodic paralysis, type 1 [RCV001096281]|Hypokalemic periodic paralysis, type 1 [RCV001430879]|Malignant hyperthermia, susceptibility to, 5 [RCV003456194]|Thyrotoxic periodic paralysis, susceptibility to, 1 [RCV003455445] |
Chr1:201062066 [GRCh38]
Chr1:201031194 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.2836G>A (p.Gly946Ser) |
single nucleotide variant |
Congenital myopathy 18 [RCV003458622]|Hypokalemic periodic paralysis, type 1 [RCV001096283]|Hypokalemic periodic paralysis, type 1 [RCV001345009]|Malignant hyperthermia, susceptibility to, 5 [RCV003455446]|Thyrotoxic periodic paralysis, susceptibility to, 1 [RCV003455447]|not provided [RCV003883550] |
Chr1:201065855 [GRCh38]
Chr1:201034983 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.3071T>C (p.Ile1024Thr) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV000986500]|Hypokalemic periodic paralysis, type 1 [RCV001869336] |
Chr1:201061451 [GRCh38]
Chr1:201030579 [GRCh37]
Chr1:1q32.1 |
likely benign|uncertain significance |
| NM_000069.3(CACNA1S):c.2539A>G (p.Ile847Val) |
single nucleotide variant |
Congenital myopathy 18 [RCV003458626]|Hypokalemic periodic paralysis, type 1 [RCV001098033]|Hypokalemic periodic paralysis, type 1 [RCV001504451]|Malignant hyperthermia, susceptibility to, 5 [RCV003455453]|Thyrotoxic periodic paralysis, susceptibility to, 1 [RCV003455454] |
Chr1:201069148 [GRCh38]
Chr1:201038276 [GRCh37]
Chr1:1q32.1 |
benign|likely benign |
| NM_000069.3(CACNA1S):c.1787A>C (p.Asn596Thr) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV001098124] |
Chr1:201076960 [GRCh38]
Chr1:201046088 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.4877G>T (p.Arg1626Ile) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV001097825] |
Chr1:201043452 [GRCh38]
Chr1:201012580 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.2963G>A (p.Arg988His) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV000796459]|Hypokalemic periodic paralysis, type 1 [RCV001336099]|Hypokalemic periodic paralysis, type 1 [RCV002507377]|Inborn genetic diseases [RCV003166141] |
Chr1:201062034 [GRCh38]
Chr1:201031162 [GRCh37]
Chr1:1q32.1 |
likely benign|uncertain significance |
| NM_000069.3(CACNA1S):c.3257G>T (p.Arg1086Leu) |
single nucleotide variant |
desflurane response - Toxicity/ADR [RCV000786585]|enflurane response - Toxicity/ADR [RCV000786586]|halothane response - Toxicity/ADR [RCV000786587]|isoflurane response - Toxicity/ADR [RCV000786588]|methoxyflurane response - Toxicity/ADR [RCV000786653]|sevoflurane response - Toxicity/ADR [RCV000786654]|succinylcholine response - Toxicity/ADR [RCV000786655] |
Chr1:201060815 [GRCh38]
Chr1:201029943 [GRCh37]
Chr1:1q32.1 |
drug response |
| NM_000069.3(CACNA1S):c.1106G>A (p.Trp369Ter) |
single nucleotide variant |
not provided [RCV000782248] |
Chr1:201085480 [GRCh38]
Chr1:201054608 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.2490+5C>T |
single nucleotide variant |
CACNA1S-related condition [RCV003965593]|Hypokalemic periodic paralysis, type 1 [RCV000800505]|not provided [RCV000842082] |
Chr1:201069467 [GRCh38]
Chr1:201038595 [GRCh37]
Chr1:1q32.1 |
likely benign|uncertain significance |
| NM_000069.3(CACNA1S):c.4170C>G (p.Asp1390Glu) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV000810717]|Inborn genetic diseases [RCV002537341]|not provided [RCV002281136] |
Chr1:201050460 [GRCh38]
Chr1:201019588 [GRCh37]
Chr1:1q32.1 |
likely benign|uncertain significance |
| NM_000069.3(CACNA1S):c.5507G>A (p.Arg1836Gln) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV001242712]|not provided [RCV003883484] |
Chr1:201039946 [GRCh38]
Chr1:201009074 [GRCh37]
Chr1:1q32.1 |
likely benign|uncertain significance |
| NM_000069.3(CACNA1S):c.1926C>G (p.Ile642Met) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV003769330]|not provided [RCV000994232] |
Chr1:201075517 [GRCh38]
Chr1:201044645 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.3113G>A (p.Arg1038His) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV000810949]|Hypokalemic periodic paralysis, type 1 [RCV002487763]|not provided [RCV003225128] |
Chr1:201061409 [GRCh38]
Chr1:201030537 [GRCh37]
Chr1:1q32.1 |
likely benign|uncertain significance |
| NM_000069.3(CACNA1S):c.2063+333G>A |
single nucleotide variant |
not provided [RCV000826829] |
Chr1:201074173 [GRCh38]
Chr1:201043301 [GRCh37]
Chr1:1q32.1 |
benign |
| NM_000069.3(CACNA1S):c.1876G>T (p.Ala626Ser) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV001098122] |
Chr1:201075567 [GRCh38]
Chr1:201044695 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.4639C>T (p.Arg1547Trp) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV000794541]|not provided [RCV000994222] |
Chr1:201047144 [GRCh38]
Chr1:201016272 [GRCh37]
Chr1:1q32.1 |
likely benign|uncertain significance |
| NM_000069.3(CACNA1S):c.2854-2A>C |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV000809846] |
Chr1:201062516 [GRCh38]
Chr1:201031644 [GRCh37]
Chr1:1q32.1 |
likely pathogenic |
| NM_000069.3(CACNA1S):c.4025C>A (p.Ser1342Ter) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV000794912] |
Chr1:201051072 [GRCh38]
Chr1:201020200 [GRCh37]
Chr1:1q32.1 |
pathogenic |
| NC_000001.11:g.201112815C>T |
single nucleotide variant |
not provided [RCV000830431] |
Chr1:201081943 [GRCh37]
Chr1:1q32.1 |
benign |
| NM_000069.3(CACNA1S):c.1206A>G (p.Ala402=) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV001463101] |
Chr1:201084976 [GRCh38]
Chr1:201054104 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.3210G>A (p.Glu1070=) |
single nucleotide variant |
CACNA1S-related condition [RCV003920435]|Congenital myopathy 18 [RCV003458565]|Hypokalemic periodic paralysis, type 1 [RCV002495307]|Hypokalemic periodic paralysis, type 1 [RCV002539187]|Hypokalemic periodic paralysis, type 1 [RCV003456163]|Malignant hyperthermia, susceptibility to, 5 [RCV003453802]|Thyrotoxic periodic paralysis, susceptibility to, 1 [RCV003453803] |
Chr1:201061312 [GRCh38]
Chr1:201030440 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.1866T>C (p.Asn622=) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV001439089] |
Chr1:201075577 [GRCh38]
Chr1:201044705 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.1792_1794del (p.Asp598del) |
deletion |
Hypokalemic periodic paralysis, type 1 [RCV000798864] |
Chr1:201076953..201076955 [GRCh38]
Chr1:201046081..201046083 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.3526-232C>T |
single nucleotide variant |
not provided [RCV000837071] |
Chr1:201058723 [GRCh38]
Chr1:201027851 [GRCh37]
Chr1:1q32.1 |
benign |
| NM_000069.3(CACNA1S):c.4617C>T (p.Arg1539=) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV001496725] |
Chr1:201047166 [GRCh38]
Chr1:201016294 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.2746-4C>T |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV001395393] |
Chr1:201065949 [GRCh38]
Chr1:201035077 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.153-193G>T |
single nucleotide variant |
not provided [RCV000837792] |
Chr1:201110462 [GRCh38]
Chr1:201079590 [GRCh37]
Chr1:1q32.1 |
benign |
| NM_000069.3(CACNA1S):c.153-61A>T |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV001554670]|not provided [RCV000837793] |
Chr1:201110330 [GRCh38]
Chr1:201079458 [GRCh37]
Chr1:1q32.1 |
benign |
| NM_000069.3(CACNA1S):c.258+204C>T |
single nucleotide variant |
not provided [RCV000837794] |
Chr1:201109960 [GRCh38]
Chr1:201079088 [GRCh37]
Chr1:1q32.1 |
benign |
| NM_000069.3(CACNA1S):c.1620-124A>C |
single nucleotide variant |
not provided [RCV000837800] |
Chr1:201077251 [GRCh38]
Chr1:201046379 [GRCh37]
Chr1:1q32.1 |
benign |
| NM_000069.3(CACNA1S):c.2854-89C>G |
single nucleotide variant |
not provided [RCV000837803] |
Chr1:201062603 [GRCh38]
Chr1:201031731 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.3953+66G>C |
single nucleotide variant |
not provided [RCV000837805] |
Chr1:201052491 [GRCh38]
Chr1:201021619 [GRCh37]
Chr1:1q32.1 |
benign |
| NM_000069.3(CACNA1S):c.5135-56A>G |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV001554559]|not provided [RCV000837820] |
Chr1:201040769 [GRCh38]
Chr1:201009897 [GRCh37]
Chr1:1q32.1 |
benign |
| NM_000069.3(CACNA1S):c.2910C>T (p.Gly970=) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV000981207] |
Chr1:201062087 [GRCh38]
Chr1:201031215 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.5325T>C (p.Asn1775=) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV001454676] |
Chr1:201040276 [GRCh38]
Chr1:201009404 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.2550+303A>G |
single nucleotide variant |
not provided [RCV000826830] |
Chr1:201068834 [GRCh38]
Chr1:201037962 [GRCh37]
Chr1:1q32.1 |
benign |
| NM_000069.3(CACNA1S):c.5048+162G>A |
single nucleotide variant |
not provided [RCV000829526] |
Chr1:201043119 [GRCh38]
Chr1:201012247 [GRCh37]
Chr1:1q32.1 |
benign |
| NM_000069.3(CACNA1S):c.665T>A (p.Met222Lys) |
single nucleotide variant |
Congenital myopathy 18 [RCV003222140]|Hypokalemic periodic paralysis, type 1 [RCV000813528]|Hypokalemic periodic paralysis, type 1 [RCV003456150]|Malignant hyperthermia, susceptibility to, 5 [RCV003453709]|Thyrotoxic periodic paralysis, susceptibility to, 1 [RCV003453710]|not provided [RCV001759576] |
Chr1:201091669 [GRCh38]
Chr1:201060797 [GRCh37]
Chr1:1q32.1 |
pathogenic|uncertain significance |
| NM_000069.3(CACNA1S):c.1619+299C>A |
single nucleotide variant |
not provided [RCV000831726] |
Chr1:201077580 [GRCh38]
Chr1:201046708 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.2(CACNA1S):c.-476G>C |
single nucleotide variant |
not provided [RCV000831859] |
Chr1:201112815 [GRCh38]
Chr1:201081943 [GRCh37]
Chr1:1q32.1 |
benign |
| NM_000069.3(CACNA1S):c.152+299T>C |
single nucleotide variant |
not provided [RCV000831860] |
Chr1:201111889 [GRCh38]
Chr1:201081017 [GRCh37]
Chr1:1q32.1 |
benign |
| NM_000069.3(CACNA1S):c.4385C>A (p.Thr1462Asn) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV000813739] |
Chr1:201048638 [GRCh38]
Chr1:201017766 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.2907-16G>A |
single nucleotide variant |
Congenital myopathy 18 [RCV003446484]|Hypokalemic periodic paralysis, type 1 [RCV002536138]|Hypokalemic periodic paralysis, type 1 [RCV003446481]|Malignant hyperthermia, susceptibility to, 5 [RCV003446482]|Thyrotoxic periodic paralysis, susceptibility to, 1 [RCV003446483]|not provided [RCV000841639] |
Chr1:201062106 [GRCh38]
Chr1:201031234 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.1723C>T (p.Leu575Phe) |
single nucleotide variant |
Congenital myopathy 18 [RCV003458542]|Hypokalemic periodic paralysis, type 1 [RCV000811642]|Hypokalemic periodic paralysis, type 1 [RCV003456149]|Malignant hyperthermia, susceptibility to, 5 [RCV003453699]|Thyrotoxic periodic paralysis, susceptibility to, 1 [RCV003453700]|not provided [RCV002462175] |
Chr1:201077024 [GRCh38]
Chr1:201046152 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NC_000001.11:g.201093879C>T |
single nucleotide variant |
not provided [RCV000835462] |
Chr1:201063007 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.152+32del |
deletion |
not provided [RCV000837791] |
Chr1:201112156 [GRCh38]
Chr1:201081284 [GRCh37]
Chr1:1q32.1 |
benign |
| NM_000069.3(CACNA1S):c.1233-293C>T |
single nucleotide variant |
not provided [RCV000829886] |
Chr1:201083615 [GRCh38]
Chr1:201052743 [GRCh37]
Chr1:1q32.1 |
benign |
| NM_000069.3(CACNA1S):c.4276C>T (p.Leu1426=) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV001464526] |
Chr1:201049065 [GRCh38]
Chr1:201018193 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.3906G>T (p.Arg1302=) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV000804816] |
Chr1:201052604 [GRCh38]
Chr1:201021732 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.1094G>A (p.Gly365Asp) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV001099998] |
Chr1:201085492 [GRCh38]
Chr1:201054620 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.*252T>C |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV001099527] |
Chr1:201039579 [GRCh38]
Chr1:201008707 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.3415-13G>T |
single nucleotide variant |
Congenital myopathy 18 [RCV003446626]|Hypokalemic periodic paralysis, type 1 [RCV001099723]|Hypokalemic periodic paralysis, type 1 [RCV002069678]|Malignant hyperthermia, susceptibility to, 5 [RCV003446624]|Thyrotoxic periodic paralysis, susceptibility to, 1 [RCV003446625] |
Chr1:201059312 [GRCh38]
Chr1:201028440 [GRCh37]
Chr1:1q32.1 |
benign|likely benign |
| NM_000069.3(CACNA1S):c.2405C>T (p.Thr802Ile) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV001099804] |
Chr1:201069557 [GRCh38]
Chr1:201038685 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.4128T>C (p.Phe1376=) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV001473357] |
Chr1:201050502 [GRCh38]
Chr1:201019630 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.1393+8G>A |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV000870065] |
Chr1:201083154 [GRCh38]
Chr1:201052282 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.1325T>C (p.Val442Ala) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV000870095]|Malignant hyperthermia, susceptibility to, 5 [RCV001258166] |
Chr1:201083230 [GRCh38]
Chr1:201052358 [GRCh37]
Chr1:1q32.1 |
likely benign|uncertain significance |
| NM_000069.3(CACNA1S):c.1734G>A (p.Met578Ile) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV000986501] |
Chr1:201077013 [GRCh38]
Chr1:201046141 [GRCh37]
Chr1:1q32.1 |
likely pathogenic |
| GRCh37/hg19 1q25.3-44(chr1:182388773-249111240)x3 |
copy number gain |
not provided [RCV000845852] |
Chr1:182388773..249111240 [GRCh37]
Chr1:1q25.3-44 |
pathogenic |
| NM_000069.3(CACNA1S):c.3075C>T (p.Asp1025=) |
single nucleotide variant |
not provided [RCV000994227] |
Chr1:201061447 [GRCh38]
Chr1:201030575 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.2839G>A (p.Val947Ile) |
single nucleotide variant |
Congenital myopathy 18 [RCV003458580]|Hypokalemic periodic paralysis, type 1 [RCV002497293]|Hypokalemic periodic paralysis, type 1 [RCV002550662]|Hypokalemic periodic paralysis, type 1 [RCV003455017]|Malignant hyperthermia, susceptibility to, 5 [RCV003455018]|Thyrotoxic periodic paralysis, susceptibility to, 1 [RCV003455019]|not provided [RCV000994228] |
Chr1:201065852 [GRCh38]
Chr1:201034980 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.1904T>C (p.Met635Thr) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV001035245]|Hypokalemic periodic paralysis, type 1 [RCV002479165] |
Chr1:201075539 [GRCh38]
Chr1:201044667 [GRCh37]
Chr1:1q32.1 |
likely benign|uncertain significance |
| NM_000069.3(CACNA1S):c.470C>G (p.Ala157Gly) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV001228950] |
Chr1:201092043 [GRCh38]
Chr1:201061171 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.2689A>G (p.Arg897Gly) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV002549855]|not provided [RCV000994229] |
Chr1:201066285 [GRCh38]
Chr1:201035413 [GRCh37]
Chr1:1q32.1 |
likely pathogenic|uncertain significance |
| NM_000069.3(CACNA1S):c.670A>G (p.Lys224Glu) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV001211294]|not provided [RCV003311962] |
Chr1:201091664 [GRCh38]
Chr1:201060792 [GRCh37]
Chr1:1q32.1 |
likely benign|uncertain significance |
| NM_000069.3(CACNA1S):c.4786G>T (p.Gly1596Ter) |
single nucleotide variant |
not specified [RCV001192719] |
Chr1:201044339 [GRCh38]
Chr1:201013467 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.709G>A (p.Val237Met) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV001238729] |
Chr1:201089449 [GRCh38]
Chr1:201058577 [GRCh37]
Chr1:1q32.1 |
likely benign|uncertain significance |
| NM_000069.3(CACNA1S):c.1507G>A (p.Val503Met) |
single nucleotide variant |
Congenital myopathy 18 [RCV003458653]|Hypokalemic periodic paralysis, type 1 [RCV001240073]|Hypokalemic periodic paralysis, type 1 [RCV002480791]|Hypokalemic periodic paralysis, type 1 [RCV003449743]|Malignant hyperthermia, susceptibility to, 5 [RCV003449744]|Thyrotoxic periodic paralysis, susceptibility to, 1 [RCV003449745] |
Chr1:201077991 [GRCh38]
Chr1:201047119 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.5531G>A (p.Ser1844Asn) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV001220191] |
Chr1:201039922 [GRCh38]
Chr1:201009050 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.2000C>T (p.Ala667Val) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV001209173] |
Chr1:201074569 [GRCh38]
Chr1:201043697 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.586C>A (p.Leu196Ile) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV001214404] |
Chr1:201091748 [GRCh38]
Chr1:201060876 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.2888T>C (p.Met963Thr) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV001220317] |
Chr1:201062480 [GRCh38]
Chr1:201031608 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.4705G>A (p.Glu1569Lys) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV001206885]|Hypokalemic periodic paralysis, type 1 [RCV002491626] |
Chr1:201044420 [GRCh38]
Chr1:201013548 [GRCh37]
Chr1:1q32.1 |
benign|uncertain significance |
| NM_000069.3(CACNA1S):c.14C>T (p.Ser5Leu) |
single nucleotide variant |
Congenital myopathy 18 [RCV003458646]|Hypokalemic periodic paralysis, type 1 [RCV001221566]|Hypokalemic periodic paralysis, type 1 [RCV002491692]|Hypokalemic periodic paralysis, type 1 [RCV003449698]|Malignant hyperthermia, susceptibility to, 5 [RCV003449699]|Thyrotoxic periodic paralysis, susceptibility to, 1 [RCV003449700] |
Chr1:201112326 [GRCh38]
Chr1:201081454 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.1884C>T (p.Gly628=) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV001207236]|Hypokalemic periodic paralysis, type 1 [RCV002497711]|not provided [RCV003413994] |
Chr1:201075559 [GRCh38]
Chr1:201044687 [GRCh37]
Chr1:1q32.1 |
likely benign|uncertain significance |
| NM_000069.3(CACNA1S):c.3287G>T (p.Arg1096Leu) |
single nucleotide variant |
Congenital myopathy 18 [RCV003458642]|Hypokalemic periodic paralysis, type 1 [RCV001218551]|Hypokalemic periodic paralysis, type 1 [RCV003456205]|Malignant hyperthermia, susceptibility to, 5 [RCV003449690]|Thyrotoxic periodic paralysis, susceptibility to, 1 [RCV003449691]|not specified [RCV003398956] |
Chr1:201060785 [GRCh38]
Chr1:201029913 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.5125A>G (p.Arg1709Gly) |
single nucleotide variant |
Congenital myopathy 18 [RCV003458643]|Hypokalemic periodic paralysis, type 1 [RCV001218552]|Hypokalemic periodic paralysis, type 1 [RCV003449692]|Malignant hyperthermia, susceptibility to, 5 [RCV003449693]|Thyrotoxic periodic paralysis, susceptibility to, 1 [RCV003449694]|not provided [RCV003442781] |
Chr1:201041513 [GRCh38]
Chr1:201010641 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.2453C>T (p.Ala818Val) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV001223338]|not provided [RCV002462843] |
Chr1:201069509 [GRCh38]
Chr1:201038637 [GRCh37]
Chr1:1q32.1 |
likely benign|uncertain significance |
| NM_000069.3(CACNA1S):c.5606T>C (p.Ile1869Thr) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV001211213] |
Chr1:201039847 [GRCh38]
Chr1:201008975 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.700G>A (p.Val234Met) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV001247978]|Hypokalemic periodic paralysis, type 1 [RCV002499431] |
Chr1:201089458 [GRCh38]
Chr1:201058586 [GRCh37]
Chr1:1q32.1 |
likely benign|uncertain significance |
| NM_000069.3(CACNA1S):c.3674A>G (p.Asp1225Gly) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV001242380] |
Chr1:201053580 [GRCh38]
Chr1:201022708 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.3256C>G (p.Arg1086Gly) |
single nucleotide variant |
Congenital myopathy 18 [RCV003458633]|Hypokalemic periodic paralysis, type 1 [RCV001204398]|Hypokalemic periodic paralysis, type 1 [RCV002480665]|Hypokalemic periodic paralysis, type 1 [RCV003449646]|Malignant hyperthermia, susceptibility to, 5 [RCV003449647]|Thyrotoxic periodic paralysis, susceptibility to, 1 [RCV003449648] |
Chr1:201060816 [GRCh38]
Chr1:201029944 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.3256-13G>T |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV003777296]|not specified [RCV003317957] |
Chr1:201060829 [GRCh38]
Chr1:201029957 [GRCh37]
Chr1:1q32.1 |
likely benign|uncertain significance |
| NM_000069.3(CACNA1S):c.4543+2T>C |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV001376758]|Hypokalemic periodic paralysis, type 1 [RCV003446575]|Malignant hyperthermia, susceptibility to, 5 [RCV003446576]|not provided [RCV000994223] |
Chr1:201047523 [GRCh38]
Chr1:201016651 [GRCh37]
Chr1:1q32.1 |
likely pathogenic |
| NM_000069.3(CACNA1S):c.2645C>T (p.Ser882Phe) |
single nucleotide variant |
not provided [RCV000994230] |
Chr1:201066899 [GRCh38]
Chr1:201036027 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.1308G>T (p.Trp436Cys) |
single nucleotide variant |
not provided [RCV000996096] |
Chr1:201083247 [GRCh38]
Chr1:201052375 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.758G>A (p.Arg253Gln) |
single nucleotide variant |
Congenital myopathy 18 [RCV003458583]|Hypokalemic periodic paralysis, type 1 [RCV003456172]|Hypokalemic periodic paralysis, type 1 [RCV003769351]|Malignant hyperthermia, susceptibility to, 5 [RCV003455032]|Thyrotoxic periodic paralysis, susceptibility to, 1 [RCV003455033]|not provided [RCV000996098] |
Chr1:201089400 [GRCh38]
Chr1:201058528 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.656A>G (p.Lys219Arg) |
single nucleotide variant |
Congenital myopathy 18 [RCV003458625]|Hypokalemic periodic paralysis, type 1 [RCV001096584]|Hypokalemic periodic paralysis, type 1 [RCV002555984]|Malignant hyperthermia, susceptibility to, 5 [RCV003456197]|Thyrotoxic periodic paralysis, susceptibility to, 1 [RCV003456198] |
Chr1:201091678 [GRCh38]
Chr1:201060806 [GRCh37]
Chr1:1q32.1 |
benign|likely benign |
| NM_000069.3(CACNA1S):c.*170G>A |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV001101507] |
Chr1:201039661 [GRCh38]
Chr1:201008789 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.3080A>G (p.Asn1027Ser) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV001101705]|Hypokalemic periodic paralysis, type 1 [RCV001204746] |
Chr1:201061442 [GRCh38]
Chr1:201030570 [GRCh37]
Chr1:1q32.1 |
likely benign|uncertain significance |
| NM_000069.3(CACNA1S):c.1660A>G (p.Asn554Asp) |
single nucleotide variant |
Congenital myopathy 18 [RCV003458655]|Hypokalemic periodic paralysis, type 1 [RCV001246689]|Hypokalemic periodic paralysis, type 1 [RCV002480842]|Hypokalemic periodic paralysis, type 1 [RCV003449788]|Malignant hyperthermia, susceptibility to, 5 [RCV003456206]|Thyrotoxic periodic paralysis, susceptibility to, 1 [RCV003449789] |
Chr1:201077087 [GRCh38]
Chr1:201046215 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.520C>A (p.Arg174=) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV001098316] |
Chr1:201091993 [GRCh38]
Chr1:201061121 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.5387G>C (p.Gly1796Ala) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV001096063] |
Chr1:201040066 [GRCh38]
Chr1:201009194 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.181A>G (p.Ile61Val) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV003104780] |
Chr1:201110241 [GRCh38]
Chr1:201079369 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.1525C>A (p.Leu509Met) |
single nucleotide variant |
not provided [RCV003126358] |
Chr1:201077973 [GRCh38]
Chr1:201047101 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.4148A>G (p.Asn1383Ser) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV003104544] |
Chr1:201050482 [GRCh38]
Chr1:201019610 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.3609+216T>C |
single nucleotide variant |
not provided [RCV001551329] |
Chr1:201058192 [GRCh38]
Chr1:201027320 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.4668+290G>A |
single nucleotide variant |
not provided [RCV001570512] |
Chr1:201046825 [GRCh38]
Chr1:201015953 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.1150+94A>G |
single nucleotide variant |
not provided [RCV001567707] |
Chr1:201085342 [GRCh38]
Chr1:201054470 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.2550+156A>G |
single nucleotide variant |
not provided [RCV001548343] |
Chr1:201068981 [GRCh38]
Chr1:201038109 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.2343C>G (p.Ile781Met) |
single nucleotide variant |
Inborn genetic diseases [RCV003241380] |
Chr1:201070289 [GRCh38]
Chr1:201039417 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.2658-14T>C |
single nucleotide variant |
not specified [RCV003317960] |
Chr1:201066330 [GRCh38]
Chr1:201035458 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.2906+155G>A |
single nucleotide variant |
not provided [RCV001553027] |
Chr1:201062307 [GRCh38]
Chr1:201031435 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.3256-40G>T |
single nucleotide variant |
not provided [RCV001553365] |
Chr1:201060856 [GRCh38]
Chr1:201029984 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.1394-190T>A |
single nucleotide variant |
not provided [RCV001560451] |
Chr1:201078294 [GRCh38]
Chr1:201047422 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.3415-39C>T |
single nucleotide variant |
not provided [RCV001717268] |
Chr1:201059338 [GRCh38]
Chr1:201028466 [GRCh37]
Chr1:1q32.1 |
benign |
| NM_000069.3(CACNA1S):c.1828-57A>G |
single nucleotide variant |
not provided [RCV001561280] |
Chr1:201075672 [GRCh38]
Chr1:201044800 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.1620-27C>T |
single nucleotide variant |
not provided [RCV001561375] |
Chr1:201077154 [GRCh38]
Chr1:201046282 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.4338+130C>A |
single nucleotide variant |
not provided [RCV001576643] |
Chr1:201048873 [GRCh38]
Chr1:201018001 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.4798-309C>T |
single nucleotide variant |
not provided [RCV001561545] |
Chr1:201043840 [GRCh38]
Chr1:201012968 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.901-349G>C |
single nucleotide variant |
not provided [RCV001569444] |
Chr1:201088278 [GRCh38]
Chr1:201057406 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.3667-65C>T |
single nucleotide variant |
not provided [RCV001589766] |
Chr1:201053652 [GRCh38]
Chr1:201022780 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.1092G>C (p.Arg364=) |
single nucleotide variant |
Congenital myopathy 18 [RCV003458745]|Hypokalemic periodic paralysis, type 1 [RCV002073087]|Hypokalemic periodic paralysis, type 1 [RCV003451837]|Malignant hyperthermia, susceptibility to, 5 [RCV003456240]|Thyrotoxic periodic paralysis, susceptibility to, 1 [RCV003456241]|not specified [RCV001663415] |
Chr1:201085494 [GRCh38]
Chr1:201054622 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.4668+119C>G |
single nucleotide variant |
not provided [RCV001592236] |
Chr1:201046996 [GRCh38]
Chr1:201016124 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.1744G>C (p.Gly582Arg) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV001964043] |
Chr1:201077003 [GRCh38]
Chr1:201046131 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.258+31C>A |
single nucleotide variant |
not provided [RCV001575165] |
Chr1:201110133 [GRCh38]
Chr1:201079261 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.2227+221A>G |
single nucleotide variant |
not provided [RCV001620692] |
Chr1:201072534 [GRCh38]
Chr1:201041662 [GRCh37]
Chr1:1q32.1 |
benign |
| NM_000069.3(CACNA1S):c.2657+253G>A |
single nucleotide variant |
not provided [RCV001587981] |
Chr1:201066634 [GRCh38]
Chr1:201035762 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.4242-235A>C |
single nucleotide variant |
not provided [RCV001673417] |
Chr1:201049334 [GRCh38]
Chr1:201018462 [GRCh37]
Chr1:1q32.1 |
benign |
| NM_000069.3(CACNA1S):c.4441+33T>G |
single nucleotide variant |
not provided [RCV001546796] |
Chr1:201048549 [GRCh38]
Chr1:201017677 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.3026C>A (p.Thr1009Lys) |
single nucleotide variant |
not provided [RCV001574444] |
Chr1:201061971 [GRCh38]
Chr1:201031099 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.3954-290G>A |
single nucleotide variant |
not provided [RCV001592760] |
Chr1:201051433 [GRCh38]
Chr1:201020561 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.3415-283T>C |
single nucleotide variant |
not provided [RCV001574730] |
Chr1:201059582 [GRCh38]
Chr1:201028710 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.2690G>C (p.Arg897Thr) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV000853588]|Hypokalemic periodic paralysis, type 1 [RCV001869308]|Malignant hyperthermia, susceptibility to, 5 [RCV003453774]|not provided [RCV001310556] |
Chr1:201066284 [GRCh38]
Chr1:201035412 [GRCh37]
Chr1:1q32.1 |
pathogenic|likely pathogenic|uncertain significance |
| NM_000069.3(CACNA1S):c.3720C>T (p.Val1240=) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV001427917] |
Chr1:201053534 [GRCh38]
Chr1:201022662 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.108G>C (p.Leu36=) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV001487179] |
Chr1:201112232 [GRCh38]
Chr1:201081360 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.744G>C (p.Thr248=) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV000932322]|Hypokalemic periodic paralysis, type 1 [RCV001101989]|not provided [RCV001172224] |
Chr1:201089414 [GRCh38]
Chr1:201058542 [GRCh37]
Chr1:1q32.1 |
likely benign|uncertain significance |
| NM_000069.3(CACNA1S):c.2520C>T (p.Thr840=) |
single nucleotide variant |
Congenital myopathy 18 [RCV003458553]|Hypokalemic periodic paralysis, type 1 [RCV000861669]|Hypokalemic periodic paralysis, type 1 [RCV002495218]|Hypokalemic periodic paralysis, type 1 [RCV003456153]|Malignant hyperthermia, susceptibility to, 5 [RCV003453776]|Thyrotoxic periodic paralysis, susceptibility to, 1 [RCV003453777] |
Chr1:201069167 [GRCh38]
Chr1:201038295 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.288C>T (p.Val96=) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV000868745] |
Chr1:201093992 [GRCh38]
Chr1:201063120 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.3630G>A (p.Gly1210=) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV001494018] |
Chr1:201054541 [GRCh38]
Chr1:201023669 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.4893T>G (p.Ala1631=) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV000900682] |
Chr1:201043436 [GRCh38]
Chr1:201012564 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.1112C>T (p.Thr371Met) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV001505735] |
Chr1:201085474 [GRCh38]
Chr1:201054602 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.429C>T (p.Asn143=) |
single nucleotide variant |
Congenital myopathy 18 [RCV003458578]|Hypokalemic periodic paralysis, type 1 [RCV001424849]|Hypokalemic periodic paralysis, type 1 [RCV002503118]|Hypokalemic periodic paralysis, type 1 [RCV003454976]|Malignant hyperthermia, susceptibility to, 5 [RCV003454977]|Thyrotoxic periodic paralysis, susceptibility to, 1 [RCV003454978] |
Chr1:201092084 [GRCh38]
Chr1:201061212 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.471C>T (p.Ala157=) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV001416996] |
Chr1:201092042 [GRCh38]
Chr1:201061170 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.5048+9G>A |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV001412071] |
Chr1:201043272 [GRCh38]
Chr1:201012400 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.2442T>C (p.Ala814=) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV001480888] |
Chr1:201069520 [GRCh38]
Chr1:201038648 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.2280C>T (p.Pro760=) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV003768662] |
Chr1:201070352 [GRCh38]
Chr1:201039480 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.582C>T (p.Leu194=) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV001402828] |
Chr1:201091752 [GRCh38]
Chr1:201060880 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.516C>T (p.Pro172=) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV001403294] |
Chr1:201091997 [GRCh38]
Chr1:201061125 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.5135-6A>G |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV001440011] |
Chr1:201040719 [GRCh38]
Chr1:201009847 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.3843C>T (p.Tyr1281=) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV000871971] |
Chr1:201053227 [GRCh38]
Chr1:201022355 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.541+10A>G |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV001465830] |
Chr1:201091962 [GRCh38]
Chr1:201061090 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.2430G>C (p.Leu810=) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV000863948] |
Chr1:201069532 [GRCh38]
Chr1:201038660 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.4521C>T (p.Asp1507=) |
single nucleotide variant |
CACNA1S-related condition [RCV003938216]|Congenital myopathy 18 [RCV003458555]|Hypokalemic periodic paralysis, type 1 [RCV000862009]|Hypokalemic periodic paralysis, type 1 [RCV002478953]|Hypokalemic periodic paralysis, type 1 [RCV003456154]|Malignant hyperthermia, susceptibility to, 5 [RCV003453781]|Thyrotoxic periodic paralysis, susceptibility to, 1 [RCV003453782] |
Chr1:201047547 [GRCh38]
Chr1:201016675 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.4770G>A (p.Glu1590=) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV001402033] |
Chr1:201044355 [GRCh38]
Chr1:201013483 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.2055G>C (p.Lys685Asn) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV001042522]|Hypokalemic periodic paralysis, type 1 [RCV002481896]|not provided [RCV002508281]|not specified [RCV003490022] |
Chr1:201074514 [GRCh38]
Chr1:201043642 [GRCh37]
Chr1:1q32.1 |
benign|uncertain significance |
| NM_000069.3(CACNA1S):c.4569C>G (p.Phe1523Leu) |
single nucleotide variant |
Congenital myopathy 18 [RCV003458601]|Hypokalemic periodic paralysis, type 1 [RCV001047961]|Hypokalemic periodic paralysis, type 1 [RCV002497388]|Hypokalemic periodic paralysis, type 1 [RCV003455203]|Malignant hyperthermia, susceptibility to, 5 [RCV003455204]|Thyrotoxic periodic paralysis, susceptibility to, 1 [RCV003455205]|not provided [RCV001759773] |
Chr1:201047214 [GRCh38]
Chr1:201016342 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.3609C>T (p.Asp1203=) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV001244372] |
Chr1:201058408 [GRCh38]
Chr1:201027536 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.2468G>A (p.Arg823Gln) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV001244432]|not provided [RCV003487282] |
Chr1:201069494 [GRCh38]
Chr1:201038622 [GRCh37]
Chr1:1q32.1 |
benign|uncertain significance |
| NM_000069.3(CACNA1S):c.3905G>A (p.Arg1302Gln) |
single nucleotide variant |
Congenital myopathy 18 [RCV003458654]|Hypokalemic periodic paralysis, type 1 [RCV001244484]|Hypokalemic periodic paralysis, type 1 [RCV002499413]|Hypokalemic periodic paralysis, type 1 [RCV003315365]|Malignant hyperthermia, susceptibility to, 5 [RCV003449768]|Thyrotoxic periodic paralysis, susceptibility to, 1 [RCV003449769] |
Chr1:201052605 [GRCh38]
Chr1:201021733 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.1120G>A (p.Glu374Lys) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV001051121] |
Chr1:201085466 [GRCh38]
Chr1:201054594 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.3124G>A (p.Ala1042Thr) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV001222445] |
Chr1:201061398 [GRCh38]
Chr1:201030526 [GRCh37]
Chr1:1q32.1 |
benign|uncertain significance |
| NM_000069.3(CACNA1S):c.304G>A (p.Ala102Thr) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV001056131]|Hypokalemic periodic paralysis, type 1 [RCV002505610]|Inborn genetic diseases [RCV002554394] |
Chr1:201093976 [GRCh38]
Chr1:201063104 [GRCh37]
Chr1:1q32.1 |
benign|uncertain significance |
| NM_000069.3(CACNA1S):c.19C>T (p.Gln7Ter) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV001060025] |
Chr1:201112321 [GRCh38]
Chr1:201081449 [GRCh37]
Chr1:1q32.1 |
pathogenic |
| NM_000069.3(CACNA1S):c.3773G>A (p.Trp1258Ter) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV001061744] |
Chr1:201053481 [GRCh38]
Chr1:201022609 [GRCh37]
Chr1:1q32.1 |
pathogenic |
| NM_000069.3(CACNA1S):c.1345A>G (p.Ile449Val) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV001066686]|Hypokalemic periodic paralysis, type 1 [RCV002482104]|not provided [RCV001531029] |
Chr1:201083210 [GRCh38]
Chr1:201052338 [GRCh37]
Chr1:1q32.1 |
likely benign|uncertain significance |
| NM_000069.3(CACNA1S):c.5614A>G (p.Arg1872Gly) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV001208258] |
Chr1:201039839 [GRCh38]
Chr1:201008967 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.153-8G>A |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV001205562] |
Chr1:201110277 [GRCh38]
Chr1:201079405 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.140T>A (p.Ile47Asn) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV001245317] |
Chr1:201112200 [GRCh38]
Chr1:201081328 [GRCh37]
Chr1:1q32.1 |
likely benign|uncertain significance |
| NM_000069.3(CACNA1S):c.2770G>T (p.Ala924Ser) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV001217180] |
Chr1:201065921 [GRCh38]
Chr1:201035049 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.1813A>T (p.Ile605Phe) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV001223929] |
Chr1:201076934 [GRCh38]
Chr1:201046062 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.1101G>A (p.Met367Ile) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV001240678] |
Chr1:201085485 [GRCh38]
Chr1:201054613 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.5227-2del |
deletion |
Hypokalemic periodic paralysis, type 1 [RCV001240822] |
Chr1:201040376 [GRCh38]
Chr1:201009504 [GRCh37]
Chr1:1q32.1 |
likely pathogenic |
| NM_000069.3(CACNA1S):c.4034C>T (p.Ala1345Val) |
single nucleotide variant |
not provided [RCV001531026] |
Chr1:201051063 [GRCh38]
Chr1:201020191 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.3953+13C>T |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV001096189]|Hypokalemic periodic paralysis, type 1 [RCV003769043] |
Chr1:201052544 [GRCh38]
Chr1:201021672 [GRCh37]
Chr1:1q32.1 |
likely benign|uncertain significance |
| NM_000069.3(CACNA1S):c.5237T>C (p.Val1746Ala) |
single nucleotide variant |
Congenital myopathy 18 [RCV003458634]|Hypokalemic periodic paralysis, type 1 [RCV001206413]|Hypokalemic periodic paralysis, type 1 [RCV002497708]|Hypokalemic periodic paralysis, type 1 [RCV003456201]|Malignant hyperthermia, susceptibility to, 5 [RCV003449651]|Thyrotoxic periodic paralysis, susceptibility to, 1 [RCV003456202]|not provided [RCV001813814] |
Chr1:201040364 [GRCh38]
Chr1:201009492 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.4616G>A (p.Arg1539His) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV001038054] |
Chr1:201047167 [GRCh38]
Chr1:201016295 [GRCh37]
Chr1:1q32.1 |
benign|uncertain significance |
| NM_000069.3(CACNA1S):c.1371T>A (p.Pro457=) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV001414015] |
Chr1:201083184 [GRCh38]
Chr1:201052312 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.867T>C (p.Ile289=) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV001489719] |
Chr1:201089291 [GRCh38]
Chr1:201058419 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.152+24dup |
duplication |
not provided [RCV001561944] |
Chr1:201112155..201112156 [GRCh38]
Chr1:201081283..201081284 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.2550+274C>T |
single nucleotide variant |
not provided [RCV001577309] |
Chr1:201068863 [GRCh38]
Chr1:201037991 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.399-248A>C |
single nucleotide variant |
not provided [RCV001551322] |
Chr1:201092362 [GRCh38]
Chr1:201061490 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.3795+53T>G |
single nucleotide variant |
not provided [RCV001557503] |
Chr1:201053406 [GRCh38]
Chr1:201022534 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.694+241_694+242insCA |
insertion |
not provided [RCV001557512] |
Chr1:201091398..201091399 [GRCh38]
Chr1:201060526..201060527 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.2658-74G>C |
single nucleotide variant |
not provided [RCV001568190] |
Chr1:201066390 [GRCh38]
Chr1:201035518 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.5135-66C>T |
single nucleotide variant |
not provided [RCV001570500] |
Chr1:201040779 [GRCh38]
Chr1:201009907 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.2158-283G>T |
single nucleotide variant |
not provided [RCV001558485] |
Chr1:201073107 [GRCh38]
Chr1:201042235 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.152+258GGA[3] |
microsatellite |
not provided [RCV001637625] |
Chr1:201111919..201111921 [GRCh38]
Chr1:201081047..201081049 [GRCh37]
Chr1:1q32.1 |
benign |
| GRCh37/hg19 1q32.1(chr1:200795738-201013947)x3 |
copy number gain |
not provided [RCV002472891] |
Chr1:200795738..201013947 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.2360+281T>C |
single nucleotide variant |
not provided [RCV001558533] |
Chr1:201069991 [GRCh38]
Chr1:201039119 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.1393+226C>T |
single nucleotide variant |
not provided [RCV001558800] |
Chr1:201082936 [GRCh38]
Chr1:201052064 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.3256-194C>T |
single nucleotide variant |
not provided [RCV001595920] |
Chr1:201061010 [GRCh38]
Chr1:201030138 [GRCh37]
Chr1:1q32.1 |
benign |
| NM_000069.3(CACNA1S):c.3862-69G>A |
single nucleotide variant |
not provided [RCV001553286] |
Chr1:201052717 [GRCh38]
Chr1:201021845 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.3667-64G>A |
single nucleotide variant |
not provided [RCV001559898] |
Chr1:201053651 [GRCh38]
Chr1:201022779 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.2157+233G>A |
single nucleotide variant |
not provided [RCV001545041] |
Chr1:201073316 [GRCh38]
Chr1:201042444 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.4114-75A>G |
single nucleotide variant |
not provided [RCV001594114] |
Chr1:201050591 [GRCh38]
Chr1:201019719 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.2854-198G>T |
single nucleotide variant |
not provided [RCV001555037] |
Chr1:201062712 [GRCh38]
Chr1:201031840 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.5135-290G>A |
single nucleotide variant |
not provided [RCV001555229] |
Chr1:201041003 [GRCh38]
Chr1:201010131 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.152+302C>T |
single nucleotide variant |
not provided [RCV001636035] |
Chr1:201111886 [GRCh38]
Chr1:201081014 [GRCh37]
Chr1:1q32.1 |
benign |
| NM_000069.3(CACNA1S):c.901-149C>G |
single nucleotide variant |
not provided [RCV001555846] |
Chr1:201088078 [GRCh38]
Chr1:201057206 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.2063+275G>A |
single nucleotide variant |
not provided [RCV001561355] |
Chr1:201074231 [GRCh38]
Chr1:201043359 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.2853+99C>T |
single nucleotide variant |
not provided [RCV001718257] |
Chr1:201065739 [GRCh38]
Chr1:201034867 [GRCh37]
Chr1:1q32.1 |
benign |
| NM_000069.3(CACNA1S):c.3745C>T (p.Arg1249Trp) |
single nucleotide variant |
Congenital myopathy 18 [RCV003458659]|Hypokalemic periodic paralysis, type 1 [RCV001263475]|Hypokalemic periodic paralysis, type 1 [RCV001880062]|Hypokalemic periodic paralysis, type 1 [RCV002499452]|Malignant hyperthermia, susceptibility to, 5 [RCV003449822]|Thyrotoxic periodic paralysis, susceptibility to, 1 [RCV003449823] |
Chr1:201053509 [GRCh38]
Chr1:201022637 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.4543+141C>T |
single nucleotide variant |
not provided [RCV001530882] |
Chr1:201047384 [GRCh38]
Chr1:201016512 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.152+26G>A |
single nucleotide variant |
not provided [RCV001592096] |
Chr1:201112162 [GRCh38]
Chr1:201081290 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.1827+23C>A |
single nucleotide variant |
not provided [RCV001717470] |
Chr1:201076897 [GRCh38]
Chr1:201046025 [GRCh37]
Chr1:1q32.1 |
benign |
| NM_000069.3(CACNA1S):c.3666+197G>A |
single nucleotide variant |
not provided [RCV001639624] |
Chr1:201054308 [GRCh38]
Chr1:201023436 [GRCh37]
Chr1:1q32.1 |
benign |
| NM_000069.3(CACNA1S):c.1233-24A>G |
single nucleotide variant |
not provided [RCV001717341] |
Chr1:201083346 [GRCh38]
Chr1:201052474 [GRCh37]
Chr1:1q32.1 |
benign |
| NM_000069.3(CACNA1S):c.1948+46T>G |
single nucleotide variant |
not provided [RCV001717728] |
Chr1:201075449 [GRCh38]
Chr1:201044577 [GRCh37]
Chr1:1q32.1 |
benign |
| NM_000069.3(CACNA1S):c.3861+131A>G |
single nucleotide variant |
not provided [RCV001593380] |
Chr1:201053078 [GRCh38]
Chr1:201022206 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.1948+40A>G |
single nucleotide variant |
not provided [RCV001717449] |
Chr1:201075455 [GRCh38]
Chr1:201044583 [GRCh37]
Chr1:1q32.1 |
benign |
| NM_000069.3(CACNA1S):c.1620-289G>A |
single nucleotide variant |
not provided [RCV001688936] |
Chr1:201077416 [GRCh38]
Chr1:201046544 [GRCh37]
Chr1:1q32.1 |
benign |
| NM_000069.3(CACNA1S):c.2746-25T>C |
single nucleotide variant |
not provided [RCV001676908] |
Chr1:201065970 [GRCh38]
Chr1:201035098 [GRCh37]
Chr1:1q32.1 |
benign |
| NM_000069.3(CACNA1S):c.2063+43G>A |
single nucleotide variant |
not provided [RCV001590803] |
Chr1:201074463 [GRCh38]
Chr1:201043591 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.2158-201G>A |
single nucleotide variant |
not provided [RCV001677195] |
Chr1:201073025 [GRCh38]
Chr1:201042153 [GRCh37]
Chr1:1q32.1 |
benign |
| NM_000069.3(CACNA1S):c.2932G>A (p.Gly978Arg) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV001035425] |
Chr1:201062065 [GRCh38]
Chr1:201031193 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.5150C>G (p.Pro1717Arg) |
single nucleotide variant |
Congenital myopathy 18 [RCV003458595]|Hypokalemic periodic paralysis, type 1 [RCV001038342]|Hypokalemic periodic paralysis, type 1 [RCV002481864]|Hypokalemic periodic paralysis, type 1 [RCV003455160]|Malignant hyperthermia, susceptibility to, 5 [RCV003456178]|Thyrotoxic periodic paralysis, susceptibility to, 1 [RCV003455161]|not provided [RCV002281153] |
Chr1:201040698 [GRCh38]
Chr1:201009826 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.5303A>G (p.His1768Arg) |
single nucleotide variant |
Congenital myopathy 18 [RCV003458602]|Hypokalemic periodic paralysis, type 1 [RCV001049462]|Hypokalemic periodic paralysis, type 1 [RCV002505594]|Hypokalemic periodic paralysis, type 1 [RCV003456180]|Malignant hyperthermia, susceptibility to, 5 [RCV003455210]|Thyrotoxic periodic paralysis, susceptibility to, 1 [RCV003455211] |
Chr1:201040298 [GRCh38]
Chr1:201009426 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.1582C>T (p.Arg528Cys) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV001052970]|Hypokalemic periodic paralysis, type 1 [RCV002307667]|Malignant hyperthermia, susceptibility to, 5 [RCV003455233]|not provided [RCV002505605] |
Chr1:201077916 [GRCh38]
Chr1:201047044 [GRCh37]
Chr1:1q32.1 |
likely pathogenic|not provided |
| NM_000069.3(CACNA1S):c.5593del (p.Gln1865fs) |
deletion |
Hypokalemic periodic paralysis, type 1 [RCV001058780]|not provided [RCV003480939] |
Chr1:201039860 [GRCh38]
Chr1:201008988 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.3272A>G (p.Tyr1091Cys) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV001068426] |
Chr1:201060800 [GRCh38]
Chr1:201029928 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.757C>T (p.Arg253Trp) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV001071805] |
Chr1:201089401 [GRCh38]
Chr1:201058529 [GRCh37]
Chr1:1q32.1 |
likely benign|uncertain significance |
| NM_000069.3(CACNA1S):c.3538G>A (p.Asp1180Asn) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV001099722] |
Chr1:201058479 [GRCh38]
Chr1:201027607 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.1619+10G>T |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV001099903]|Hypokalemic periodic paralysis, type 1 [RCV002069681] |
Chr1:201077869 [GRCh38]
Chr1:201046997 [GRCh37]
Chr1:1q32.1 |
likely benign|uncertain significance |
| NM_000069.3(CACNA1S):c.206C>T (p.Ala69Val) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV001100107]|Hypokalemic periodic paralysis, type 1 [RCV003769064] |
Chr1:201110216 [GRCh38]
Chr1:201079344 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.*134G>T |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV001101508] |
Chr1:201039697 [GRCh38]
Chr1:201008825 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.4418C>A (p.Thr1473Lys) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV001101610] |
Chr1:201048605 [GRCh38]
Chr1:201017733 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.766A>G (p.Ile256Val) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV001101988]|Hypokalemic periodic paralysis, type 1 [RCV001856390]|Hypokalemic periodic paralysis, type 1 [RCV002489745]|Malignant hyperthermia, susceptibility to, 5 [RCV003517298]|not specified [RCV003317431] |
Chr1:201089392 [GRCh38]
Chr1:201058520 [GRCh37]
Chr1:1q32.1 |
benign|uncertain significance |
| NM_000069.3(CACNA1S):c.702G>T (p.Val234=) |
single nucleotide variant |
Congenital myopathy 18 [RCV003458630]|Hypokalemic periodic paralysis, type 1 [RCV001101990]|Hypokalemic periodic paralysis, type 1 [RCV001501277]|Malignant hyperthermia, susceptibility to, 5 [RCV003449559]|Thyrotoxic periodic paralysis, susceptibility to, 1 [RCV003449560] |
Chr1:201089456 [GRCh38]
Chr1:201058584 [GRCh37]
Chr1:1q32.1 |
benign|likely benign |
| NM_000069.3(CACNA1S):c.4461C>T (p.Asn1487=) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV001101609]|Hypokalemic periodic paralysis, type 1 [RCV001456068] |
Chr1:201047607 [GRCh38]
Chr1:201016735 [GRCh37]
Chr1:1q32.1 |
likely benign|uncertain significance |
| NM_000069.3(CACNA1S):c.3255+185G>C |
single nucleotide variant |
not provided [RCV001585201] |
Chr1:201061082 [GRCh38]
Chr1:201030210 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.565A>G (p.Ile189Val) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV001040282] |
Chr1:201091769 [GRCh38]
Chr1:201060897 [GRCh37]
Chr1:1q32.1 |
likely benign|uncertain significance |
| NM_000069.3(CACNA1S):c.4956C>T (p.Arg1652=) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV001873762]|not provided [RCV001530830] |
Chr1:201043373 [GRCh38]
Chr1:201012501 [GRCh37]
Chr1:1q32.1 |
likely benign|uncertain significance |
| NM_000069.3(CACNA1S):c.1233-271G>A |
single nucleotide variant |
not provided [RCV001682561] |
Chr1:201083593 [GRCh38]
Chr1:201052721 [GRCh37]
Chr1:1q32.1 |
benign |
| NM_000069.3(CACNA1S):c.4660C>A (p.Gln1554Lys) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV001042790] |
Chr1:201047123 [GRCh38]
Chr1:201016251 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.3763A>G (p.Thr1255Ala) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV001043579] |
Chr1:201053491 [GRCh38]
Chr1:201022619 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.4348G>A (p.Gly1450Ser) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV001044192] |
Chr1:201048675 [GRCh38]
Chr1:201017803 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NC_000001.11:g.201112814C>T |
single nucleotide variant |
not provided [RCV001590437] |
Chr1:201112814 [GRCh38]
Chr1:201081942 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.225G>A (p.Pro75=) |
single nucleotide variant |
CACNA1S-related condition [RCV003953469]|Congenital myopathy 18 [RCV003458629]|Hypokalemic periodic paralysis, type 1 [RCV001100106]|Hypokalemic periodic paralysis, type 1 [RCV001463897]|Hypokalemic periodic paralysis, type 1 [RCV002482178]|Malignant hyperthermia, susceptibility to, 5 [RCV003449556]|Thyrotoxic periodic paralysis, susceptibility to, 1 [RCV003449557]|not provided [RCV001310558] |
Chr1:201110197 [GRCh38]
Chr1:201079325 [GRCh37]
Chr1:1q32.1 |
benign|likely benign |
| NM_000069.3(CACNA1S):c.2853+318T>A |
single nucleotide variant |
not provided [RCV001611710] |
Chr1:201065520 [GRCh38]
Chr1:201034648 [GRCh37]
Chr1:1q32.1 |
benign |
| NM_000069.3(CACNA1S):c.1330C>T (p.Leu444Phe) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV001054319] |
Chr1:201083225 [GRCh38]
Chr1:201052353 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.5557T>C (p.Ser1853Pro) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV001054321] |
Chr1:201039896 [GRCh38]
Chr1:201009024 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.162G>T (p.Glu54Asp) |
single nucleotide variant |
Congenital myopathy 18 [RCV003458608]|Hypokalemic periodic paralysis, type 1 [RCV001054828]|Hypokalemic periodic paralysis, type 1 [RCV002481993]|Hypokalemic periodic paralysis, type 1 [RCV003455246]|Malignant hyperthermia, susceptibility to, 5 [RCV003455247]|Thyrotoxic periodic paralysis, susceptibility to, 1 [RCV003455248] |
Chr1:201110260 [GRCh38]
Chr1:201079388 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.3725G>A (p.Arg1242Lys) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV001055832] |
Chr1:201053529 [GRCh38]
Chr1:201022657 [GRCh37]
Chr1:1q32.1 |
pathogenic|uncertain significance |
| NM_000069.3(CACNA1S):c.3053+84G>A |
single nucleotide variant |
not provided [RCV001714670] |
Chr1:201061860 [GRCh38]
Chr1:201030988 [GRCh37]
Chr1:1q32.1 |
benign |
| NM_000069.3(CACNA1S):c.2854-199T>C |
single nucleotide variant |
not provided [RCV001589662] |
Chr1:201062713 [GRCh38]
Chr1:201031841 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.1787A>G (p.Asn596Ser) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV001056838] |
Chr1:201076960 [GRCh38]
Chr1:201046088 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.272A>T (p.Tyr91Phe) |
single nucleotide variant |
Congenital myopathy 18 [RCV003458612]|Hypokalemic periodic paralysis, type 1 [RCV001061814]|Hypokalemic periodic paralysis, type 1 [RCV003456188]|Malignant hyperthermia, susceptibility to, 5 [RCV003456189]|Thyrotoxic periodic paralysis, susceptibility to, 1 [RCV003456190]|not provided [RCV002267071] |
Chr1:201094008 [GRCh38]
Chr1:201063136 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.5480T>A (p.Ile1827Asn) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV001063164] |
Chr1:201039973 [GRCh38]
Chr1:201009101 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.4601G>A (p.Arg1534Gln) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV001065639] |
Chr1:201047182 [GRCh38]
Chr1:201016310 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.4650G>T (p.Lys1550Asn) |
single nucleotide variant |
Congenital myopathy 18 [RCV003458614]|Hypokalemic periodic paralysis, type 1 [RCV001065848]|Hypokalemic periodic paralysis, type 1 [RCV002489694]|Hypokalemic periodic paralysis, type 1 [RCV003455287]|Malignant hyperthermia, susceptibility to, 5 [RCV003456191]|Thyrotoxic periodic paralysis, susceptibility to, 1 [RCV003455288] |
Chr1:201047133 [GRCh38]
Chr1:201016261 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.3025_3026del (p.Thr1009fs) |
deletion |
Hypokalemic periodic paralysis, type 1 [RCV001069212] |
Chr1:201061971..201061972 [GRCh38]
Chr1:201031099..201031100 [GRCh37]
Chr1:1q32.1 |
pathogenic |
| NM_000069.3(CACNA1S):c.2794G>A (p.Val932Met) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV001070635]|Hypokalemic periodic paralysis, type 1 [RCV002482134] |
Chr1:201065897 [GRCh38]
Chr1:201035025 [GRCh37]
Chr1:1q32.1 |
benign|uncertain significance |
| NM_000069.3(CACNA1S):c.1619+60G>A |
single nucleotide variant |
not provided [RCV001725010] |
Chr1:201077819 [GRCh38]
Chr1:201046947 [GRCh37]
Chr1:1q32.1 |
benign |
| NM_000069.3(CACNA1S):c.694+236_694+237dup |
duplication |
not provided [RCV001708978] |
Chr1:201091398..201091399 [GRCh38]
Chr1:201060526..201060527 [GRCh37]
Chr1:1q32.1 |
benign |
| NM_000069.3(CACNA1S):c.784C>T (p.Arg262Trp) |
single nucleotide variant |
Congenital myopathy 18 [RCV003458616]|Hypokalemic periodic paralysis, type 1 [RCV001071065]|Hypokalemic periodic paralysis, type 1 [RCV002489712]|Hypokalemic periodic paralysis, type 1 [RCV003455301]|Malignant hyperthermia, susceptibility to, 5 [RCV003455302]|Thyrotoxic periodic paralysis, susceptibility to, 1 [RCV003455303] |
Chr1:201089374 [GRCh38]
Chr1:201058502 [GRCh37]
Chr1:1q32.1 |
likely benign|uncertain significance |
| NM_000069.3(CACNA1S):c.1948+320C>T |
single nucleotide variant |
not provided [RCV001679344] |
Chr1:201075175 [GRCh38]
Chr1:201044303 [GRCh37]
Chr1:1q32.1 |
benign |
| NM_000069.3(CACNA1S):c.2063+318G>A |
single nucleotide variant |
not provided [RCV001681575] |
Chr1:201074188 [GRCh38]
Chr1:201043316 [GRCh37]
Chr1:1q32.1 |
benign |
| NM_000069.3(CACNA1S):c.2227+246G>C |
single nucleotide variant |
not provided [RCV001587033] |
Chr1:201072509 [GRCh38]
Chr1:201041637 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.901-64G>A |
single nucleotide variant |
not provided [RCV001684003] |
Chr1:201087993 [GRCh38]
Chr1:201057121 [GRCh37]
Chr1:1q32.1 |
benign |
| NM_000069.3(CACNA1S):c.3083C>T (p.Ala1028Val) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV001214058]|Inborn genetic diseases [RCV002561837]|Malignant hyperthermia, susceptibility to, 5 [RCV003517318] |
Chr1:201061439 [GRCh38]
Chr1:201030567 [GRCh37]
Chr1:1q32.1 |
likely benign|uncertain significance |
| NM_000069.3(CACNA1S):c.3334T>G (p.Trp1112Gly) |
single nucleotide variant |
CACNA1S-related condition [RCV003945922]|Hypokalemic periodic paralysis, type 1 [RCV001211964]|Hypokalemic periodic paralysis, type 1 [RCV002484157]|Inborn genetic diseases [RCV002561769] |
Chr1:201060738 [GRCh38]
Chr1:201029866 [GRCh37]
Chr1:1q32.1 |
likely benign|uncertain significance |
| NM_000069.3(CACNA1S):c.2698A>G (p.Arg900Gly) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV001217689] |
Chr1:201066276 [GRCh38]
Chr1:201035404 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.686T>C (p.Ile229Thr) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV001206672] |
Chr1:201091648 [GRCh38]
Chr1:201060776 [GRCh37]
Chr1:1q32.1 |
likely benign|uncertain significance |
| NM_000069.3(CACNA1S):c.4957A>G (p.Thr1653Ala) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV001057835] |
Chr1:201043372 [GRCh38]
Chr1:201012500 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.916G>T (p.Gly306Trp) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV001068334] |
Chr1:201087914 [GRCh38]
Chr1:201057042 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.2785G>A (p.Gly929Arg) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV002995961] |
Chr1:201065906 [GRCh38]
Chr1:201035034 [GRCh37]
Chr1:1q32.1 |
likely benign|uncertain significance |
| NM_000069.3(CACNA1S):c.5135-3C>T |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV001070089] |
Chr1:201040716 [GRCh38]
Chr1:201009844 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.1A>G (p.Met1Val) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV001216369] |
Chr1:201112339 [GRCh38]
Chr1:201081467 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.3113G>T (p.Arg1038Leu) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV001233707] |
Chr1:201061409 [GRCh38]
Chr1:201030537 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.1768A>G (p.Thr590Ala) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV001202767] |
Chr1:201076979 [GRCh38]
Chr1:201046107 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.2674G>A (p.Val892Met) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV001206754] |
Chr1:201066300 [GRCh38]
Chr1:201035428 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.445A>G (p.Thr149Ala) |
single nucleotide variant |
Congenital myopathy 18 [RCV003458627]|Hypokalemic periodic paralysis, type 1 [RCV001098318]|Hypokalemic periodic paralysis, type 1 [RCV002554922]|Malignant hyperthermia, susceptibility to, 5 [RCV003456199]|Thyrotoxic periodic paralysis, susceptibility to, 1 [RCV003456200] |
Chr1:201092068 [GRCh38]
Chr1:201061196 [GRCh37]
Chr1:1q32.1 |
benign|likely benign |
| NM_000069.3(CACNA1S):c.1382C>T (p.Thr461Ile) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV001233206]|Inborn genetic diseases [RCV002563794] |
Chr1:201083173 [GRCh38]
Chr1:201052301 [GRCh37]
Chr1:1q32.1 |
benign|uncertain significance |
| NM_000069.3(CACNA1S):c.209T>C (p.Val70Ala) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV001206104] |
Chr1:201110213 [GRCh38]
Chr1:201079341 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.2105C>T (p.Ala702Val) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV001207967] |
Chr1:201073601 [GRCh38]
Chr1:201042729 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.3992C>T (p.Ala1331Val) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV001232919] |
Chr1:201051105 [GRCh38]
Chr1:201020233 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.4668+6C>T |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV001216721] |
Chr1:201047109 [GRCh38]
Chr1:201016237 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.862T>G (p.Cys288Gly) |
single nucleotide variant |
Congenital myopathy 18 [RCV003458639]|Hypokalemic periodic paralysis, type 1 [RCV001214393]|Hypokalemic periodic paralysis, type 1 [RCV003145396]|Malignant hyperthermia, susceptibility to, 5 [RCV003456204]|Thyrotoxic periodic paralysis, susceptibility to, 1 [RCV003449678]|not provided [RCV001508033] |
Chr1:201089296 [GRCh38]
Chr1:201058424 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.2157G>A (p.Lys719=) |
single nucleotide variant |
Congenital myopathy 18 [RCV003458605]|Hypokalemic periodic paralysis, type 1 [RCV001054081]|Hypokalemic periodic paralysis, type 1 [RCV003456181]|Malignant hyperthermia, susceptibility to, 5 [RCV003455239]|Thyrotoxic periodic paralysis, susceptibility to, 1 [RCV003455240]|not provided [RCV001288114] |
Chr1:201073549 [GRCh38]
Chr1:201042677 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.3166A>G (p.Met1056Val) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV001061466]|Hypokalemic periodic paralysis, type 1 [RCV002497445] |
Chr1:201061356 [GRCh38]
Chr1:201030484 [GRCh37]
Chr1:1q32.1 |
likely benign|uncertain significance |
| NM_000069.3(CACNA1S):c.2275C>T (p.Arg759Cys) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV001202456] |
Chr1:201070357 [GRCh38]
Chr1:201039485 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.1519G>A (p.Gly507Ser) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV001230911]|Hypokalemic periodic paralysis, type 1 [RCV002497785] |
Chr1:201077979 [GRCh38]
Chr1:201047107 [GRCh37]
Chr1:1q32.1 |
likely benign|uncertain significance |
| NM_000069.3(CACNA1S):c.541+3G>A |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV001210972] |
Chr1:201091969 [GRCh38]
Chr1:201061097 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.2647A>G (p.Met883Val) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV001228544]|Hypokalemic periodic paralysis, type 1 [RCV002480751] |
Chr1:201066897 [GRCh38]
Chr1:201036025 [GRCh37]
Chr1:1q32.1 |
benign|uncertain significance |
| NM_000069.3(CACNA1S):c.542-13C>T |
single nucleotide variant |
Congenital myopathy 18 [RCV003446620]|Hypokalemic periodic paralysis, type 1 [RCV001096585]|Hypokalemic periodic paralysis, type 1 [RCV002069630]|Malignant hyperthermia, susceptibility to, 5 [RCV003446618]|Thyrotoxic periodic paralysis, susceptibility to, 1 [RCV003446619]|not provided [RCV001593263] |
Chr1:201091805 [GRCh38]
Chr1:201060933 [GRCh37]
Chr1:1q32.1 |
benign|likely benign |
| NM_000069.3(CACNA1S):c.3143A>G (p.Tyr1048Cys) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV001205347]|Inborn genetic diseases [RCV002561181] |
Chr1:201061379 [GRCh38]
Chr1:201030507 [GRCh37]
Chr1:1q32.1 |
likely benign|uncertain significance |
| NM_000069.3(CACNA1S):c.531G>A (p.Ser177=) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV001204636]|Hypokalemic periodic paralysis, type 1 [RCV002484108] |
Chr1:201091982 [GRCh38]
Chr1:201061110 [GRCh37]
Chr1:1q32.1 |
likely benign|uncertain significance |
| NM_000069.3(CACNA1S):c.356G>A (p.Arg119His) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV001204670]|not specified [RCV003479291] |
Chr1:201093924 [GRCh38]
Chr1:201063052 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.764C>T (p.Thr255Ile) |
single nucleotide variant |
Congenital myopathy 18 [RCV003458620]|Hypokalemic periodic paralysis, type 1 [RCV001327707]|Hypokalemic periodic paralysis, type 1 [RCV003455438]|Malignant hyperthermia, susceptibility to, 5 [RCV003455439]|Thyrotoxic periodic paralysis, susceptibility to, 1 [RCV003455440]|not provided [RCV001093101] |
Chr1:201089394 [GRCh38]
Chr1:201058522 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| GRCh37/hg19 1q31.3-32.2(chr1:194356425-210988710)x3 |
copy number gain |
not provided [RCV001249273] |
Chr1:194356425..210988710 [GRCh37]
Chr1:1q31.3-32.2 |
not provided |
| NM_000069.3(CACNA1S):c.3677A>G (p.Glu1226Gly) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV001215114] |
Chr1:201053577 [GRCh38]
Chr1:201022705 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.4419G>A (p.Thr1473=) |
single nucleotide variant |
Congenital myopathy 18 [RCV003458597]|Hypokalemic periodic paralysis, type 1 [RCV001040475]|Hypokalemic periodic paralysis, type 1 [RCV003456179]|Malignant hyperthermia, susceptibility to, 5 [RCV003455165]|Thyrotoxic periodic paralysis, susceptibility to, 1 [RCV003455166]|not provided [RCV001593206] |
Chr1:201048604 [GRCh38]
Chr1:201017732 [GRCh37]
Chr1:1q32.1 |
likely benign|uncertain significance |
| NM_000069.3(CACNA1S):c.1499A>G (p.Asp500Gly) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV001041946] |
Chr1:201077999 [GRCh38]
Chr1:201047127 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.2366G>A (p.Arg789His) |
single nucleotide variant |
Congenital myopathy 18 [RCV003152617]|Hypokalemic periodic paralysis, type 1 [RCV003145495]|Malignant hyperthermia, susceptibility to, 5 [RCV003449815]|Muscular atrophy [RCV001254711]|Thyrotoxic periodic paralysis, susceptibility to, 1 [RCV003449816]|not provided [RCV003456486] |
Chr1:201069596 [GRCh38]
Chr1:201038724 [GRCh37]
Chr1:1q32.1 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000069.3(CACNA1S):c.2749G>A (p.Val917Met) |
single nucleotide variant |
Congenital myopathy 18 [RCV003458657]|Hypokalemic periodic paralysis, type 1 [RCV001253539]|Hypokalemic periodic paralysis, type 1 [RCV001879872]|Hypokalemic periodic paralysis, type 1 [RCV002485991]|Malignant hyperthermia, susceptibility to, 5 [RCV003449810]|Thyrotoxic periodic paralysis, susceptibility to, 1 [RCV003449811] |
Chr1:201065942 [GRCh38]
Chr1:201035070 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.153-349T>C |
single nucleotide variant |
not provided [RCV001580911] |
Chr1:201110618 [GRCh38]
Chr1:201079746 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.4345G>A (p.Val1449Met) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV003106168]|Malignant hyperthermia, susceptibility to, 5 [RCV001258165] |
Chr1:201048678 [GRCh38]
Chr1:201017806 [GRCh37]
Chr1:1q32.1 |
benign|uncertain significance |
| NM_000069.3(CACNA1S):c.1233-112C>A |
single nucleotide variant |
not provided [RCV001663089] |
Chr1:201083434 [GRCh38]
Chr1:201052562 [GRCh37]
Chr1:1q32.1 |
benign |
| NM_000069.3(CACNA1S):c.4242-4G>A |
single nucleotide variant |
Congenital myopathy 18 [RCV003446700]|Hypokalemic periodic paralysis, type 1 [RCV002070137]|Hypokalemic periodic paralysis, type 1 [RCV002504473]|Hypokalemic periodic paralysis, type 1 [RCV003446697]|Malignant hyperthermia, susceptibility to, 5 [RCV003446698]|Thyrotoxic periodic paralysis, susceptibility to, 1 [RCV003446699] |
Chr1:201049103 [GRCh38]
Chr1:201018231 [GRCh37]
Chr1:1q32.1 |
likely benign|uncertain significance |
| NM_000069.3(CACNA1S):c.2057T>C (p.Met686Thr) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV001312536] |
Chr1:201074512 [GRCh38]
Chr1:201043640 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.704C>T (p.Ala235Val) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV001873765] |
Chr1:201089454 [GRCh38]
Chr1:201058582 [GRCh37]
Chr1:1q32.1 |
likely benign|uncertain significance |
| NM_000069.3(CACNA1S):c.152+26G>C |
single nucleotide variant |
not provided [RCV001546124] |
Chr1:201112162 [GRCh38]
Chr1:201081290 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.4542A>G (p.Gly1514=) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV001262361] |
Chr1:201047526 [GRCh38]
Chr1:201016654 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.114C>A (p.Asn38Lys) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV001307108] |
Chr1:201112226 [GRCh38]
Chr1:201081354 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.461G>A (p.Ser154Asn) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV001297643] |
Chr1:201092052 [GRCh38]
Chr1:201061180 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.1466G>A (p.Arg489His) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV001297932]|not provided [RCV002285472] |
Chr1:201078032 [GRCh38]
Chr1:201047160 [GRCh37]
Chr1:1q32.1 |
likely benign|uncertain significance |
| NM_000069.3(CACNA1S):c.2555C>T (p.Thr852Met) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV001307461]|Hypokalemic periodic paralysis, type 1 [RCV002499584] |
Chr1:201066989 [GRCh38]
Chr1:201036117 [GRCh37]
Chr1:1q32.1 |
likely benign|uncertain significance |
| NM_000069.3(CACNA1S):c.4519G>C (p.Asp1507His) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV001302174] |
Chr1:201047549 [GRCh38]
Chr1:201016677 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.2245G>A (p.Glu749Lys) |
single nucleotide variant |
Congenital myopathy 18 [RCV003458662]|Hypokalemic periodic paralysis, type 1 [RCV001308957]|Hypokalemic periodic paralysis, type 1 [RCV002499591]|Hypokalemic periodic paralysis, type 1 [RCV003449882]|Malignant hyperthermia, susceptibility to, 5 [RCV003449883]|Thyrotoxic periodic paralysis, susceptibility to, 1 [RCV003449884] |
Chr1:201070387 [GRCh38]
Chr1:201039515 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.5381G>A (p.Arg1794Gln) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV001317410]|Hypokalemic periodic paralysis, type 1 [RCV002493660] |
Chr1:201040072 [GRCh38]
Chr1:201009200 [GRCh37]
Chr1:1q32.1 |
benign|uncertain significance |
| NM_000069.3(CACNA1S):c.2831G>A (p.Cys944Tyr) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV001316916] |
Chr1:201065860 [GRCh38]
Chr1:201034988 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.164C>T (p.Thr55Met) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV001351212]|Hypokalemic periodic paralysis, type 1 [RCV002493807]|Inborn genetic diseases [RCV002547521] |
Chr1:201110258 [GRCh38]
Chr1:201079386 [GRCh37]
Chr1:1q32.1 |
likely benign|uncertain significance |
| NM_000069.3(CACNA1S):c.2658-7C>A |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV001343025] |
Chr1:201066323 [GRCh38]
Chr1:201035451 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.3823G>A (p.Val1275Ile) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV001326517]|Malignant hyperthermia, susceptibility to, 5 [RCV003517325] |
Chr1:201053247 [GRCh38]
Chr1:201022375 [GRCh37]
Chr1:1q32.1 |
likely benign|uncertain significance |
| NM_000069.3(CACNA1S):c.1132G>A (p.Val378Ile) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV001348058] |
Chr1:201085454 [GRCh38]
Chr1:201054582 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.3873G>T (p.Lys1291Asn) |
single nucleotide variant |
Congenital myopathy 18 [RCV003458667]|Hypokalemic periodic paralysis, type 1 [RCV001321428]|Hypokalemic periodic paralysis, type 1 [RCV002486280]|Hypokalemic periodic paralysis, type 1 [RCV003449919]|Malignant hyperthermia, susceptibility to, 5 [RCV003456217]|Thyrotoxic periodic paralysis, susceptibility to, 1 [RCV003449920] |
Chr1:201052637 [GRCh38]
Chr1:201021765 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.323A>G (p.Tyr108Cys) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV001342566] |
Chr1:201093957 [GRCh38]
Chr1:201063085 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.2512G>A (p.Gly838Arg) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV001294279]|Malignant hyperthermia, susceptibility to, 5 [RCV003517323] |
Chr1:201069175 [GRCh38]
Chr1:201038303 [GRCh37]
Chr1:1q32.1 |
likely benign|uncertain significance |
| NM_000069.3(CACNA1S):c.4731C>A (p.Asp1577Glu) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV001326229] |
Chr1:201044394 [GRCh38]
Chr1:201013522 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.3772T>C (p.Trp1258Arg) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV001341039] |
Chr1:201053482 [GRCh38]
Chr1:201022610 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.2763G>T (p.Met921Ile) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV001304504] |
Chr1:201065928 [GRCh38]
Chr1:201035056 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.1347C>A (p.Ile449=) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV001297115] |
Chr1:201083208 [GRCh38]
Chr1:201052336 [GRCh37]
Chr1:1q32.1 |
likely benign|uncertain significance |
| NM_000069.3(CACNA1S):c.2551-347A>C |
single nucleotide variant |
not provided [RCV001539122] |
Chr1:201067340 [GRCh38]
Chr1:201036468 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.4414C>T (p.Arg1472Cys) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV001326518]|Hypokalemic periodic paralysis, type 1 [RCV002476535] |
Chr1:201048609 [GRCh38]
Chr1:201017737 [GRCh37]
Chr1:1q32.1 |
likely benign|uncertain significance |
| NM_000069.3(CACNA1S):c.2864T>C (p.Phe955Ser) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV001350139] |
Chr1:201062504 [GRCh38]
Chr1:201031632 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.5613A>G (p.Pro1871=) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV001392366] |
Chr1:201039840 [GRCh38]
Chr1:201008968 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.352C>T (p.Leu118=) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV001423223] |
Chr1:201093928 [GRCh38]
Chr1:201063056 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.1113G>A (p.Thr371=) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV001392126] |
Chr1:201085473 [GRCh38]
Chr1:201054601 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.1562C>T (p.Pro521Leu) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV001316240] |
Chr1:201077936 [GRCh38]
Chr1:201047064 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.3428C>A (p.Ser1143Ter) |
single nucleotide variant |
Hypokalemic periodic paralysis 1 [RCV001336100] |
Chr1:201059286 [GRCh38]
Chr1:201028414 [GRCh37]
Chr1:1q32.1 |
pathogenic |
| NM_000069.3(CACNA1S):c.2956C>T (p.Arg986Cys) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV001368862] |
Chr1:201062041 [GRCh38]
Chr1:201031169 [GRCh37]
Chr1:1q32.1 |
likely benign|uncertain significance |
| NM_000069.3(CACNA1S):c.1446G>A (p.Lys482=) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV001413389] |
Chr1:201078052 [GRCh38]
Chr1:201047180 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.888C>T (p.Asp296=) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV001392570] |
Chr1:201089270 [GRCh38]
Chr1:201058398 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.2884A>G (p.Lys962Glu) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV001370657] |
Chr1:201062484 [GRCh38]
Chr1:201031612 [GRCh37]
Chr1:1q32.1 |
likely benign|uncertain significance |
| NM_000069.3(CACNA1S):c.3054G>A (p.Gln1018=) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV001397477] |
Chr1:201061468 [GRCh38]
Chr1:201030596 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.2691G>C (p.Arg897Ser) |
single nucleotide variant |
not provided [RCV001310555] |
Chr1:201066283 [GRCh38]
Chr1:201035411 [GRCh37]
Chr1:1q32.1 |
pathogenic|likely pathogenic |
| NM_000069.3(CACNA1S):c.3706C>T (p.Arg1236Cys) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV001349413] |
Chr1:201053548 [GRCh38]
Chr1:201022676 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.1322T>C (p.Ile441Thr) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV001370338] |
Chr1:201083233 [GRCh38]
Chr1:201052361 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.4411G>T (p.Val1471Phe) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV001359515] |
Chr1:201048612 [GRCh38]
Chr1:201017740 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.2270G>A (p.Arg757Gln) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV001370038]|Hypokalemic periodic paralysis, type 1 [RCV002493886] |
Chr1:201070362 [GRCh38]
Chr1:201039490 [GRCh37]
Chr1:1q32.1 |
likely benign|uncertain significance |
| NM_000069.3(CACNA1S):c.3369G>A (p.Leu1123=) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV001415303] |
Chr1:201060703 [GRCh38]
Chr1:201029831 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.625A>G (p.Ile209Val) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV001373807] |
Chr1:201091709 [GRCh38]
Chr1:201060837 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.2822T>C (p.Met941Thr) |
single nucleotide variant |
Congenital myopathy 18 [RCV003458661]|Hypokalemic periodic paralysis, type 1 [RCV001306346]|Hypokalemic periodic paralysis, type 1 [RCV002476407]|Hypokalemic periodic paralysis, type 1 [RCV003449873]|Malignant hyperthermia, susceptibility to, 5 [RCV003456208]|Thyrotoxic periodic paralysis, susceptibility to, 1 [RCV003456209] |
Chr1:201065869 [GRCh38]
Chr1:201034997 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.296T>A (p.Ile99Asn) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV001304568] |
Chr1:201093984 [GRCh38]
Chr1:201063112 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.2630C>T (p.Ala877Val) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV001323805]|Hypokalemic periodic paralysis, type 1 [RCV002504504]|Malignant hyperthermia, susceptibility to, 5 [RCV003517324]|not provided [RCV003487284] |
Chr1:201066914 [GRCh38]
Chr1:201036042 [GRCh37]
Chr1:1q32.1 |
likely benign|uncertain significance |
| NM_000069.3(CACNA1S):c.1793A>T (p.Asp598Val) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV001346376] |
Chr1:201076954 [GRCh38]
Chr1:201046082 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.1001G>C (p.Ser334Thr) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV001345717]|not provided [RCV003883613] |
Chr1:201087829 [GRCh38]
Chr1:201056957 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.1828-3C>T |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV001342010] |
Chr1:201075618 [GRCh38]
Chr1:201044746 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.2974C>G (p.His992Asp) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV001364882] |
Chr1:201062023 [GRCh38]
Chr1:201031151 [GRCh37]
Chr1:1q32.1 |
likely benign|uncertain significance |
| NM_000069.3(CACNA1S):c.868A>G (p.Thr290Ala) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV001344851] |
Chr1:201089290 [GRCh38]
Chr1:201058418 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.4189C>T (p.His1397Tyr) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV001364990] |
Chr1:201050441 [GRCh38]
Chr1:201019569 [GRCh37]
Chr1:1q32.1 |
likely benign|uncertain significance |
| NM_000069.3(CACNA1S):c.3407G>A (p.Gly1136Asp) |
single nucleotide variant |
Congenital myopathy 18 [RCV003458665]|Hypokalemic periodic paralysis, type 1 [RCV001315773]|Hypokalemic periodic paralysis, type 1 [RCV003456211]|Malignant hyperthermia, susceptibility to, 5 [RCV003449901]|Thyrotoxic periodic paralysis, susceptibility to, 1 [RCV003456212]|not provided [RCV002462925] |
Chr1:201060665 [GRCh38]
Chr1:201029793 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.4972C>G (p.Arg1658Gly) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV001327384] |
Chr1:201043357 [GRCh38]
Chr1:201012485 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.5621G>T (p.Ter1874Leu) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV001360786] |
Chr1:201039832 [GRCh38]
Chr1:201008960 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.2164A>G (p.Ile722Val) |
single nucleotide variant |
Congenital myopathy 18 [RCV003458660]|Hypokalemic periodic paralysis, type 1 [RCV001296083]|Hypokalemic periodic paralysis, type 1 [RCV002486122]|Hypokalemic periodic paralysis, type 1 [RCV003449848]|Malignant hyperthermia, susceptibility to, 5 [RCV003449849]|Thyrotoxic periodic paralysis, susceptibility to, 1 [RCV003449850] |
Chr1:201072818 [GRCh38]
Chr1:201041946 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.116C>T (p.Pro39Leu) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV001313085] |
Chr1:201112224 [GRCh38]
Chr1:201081352 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.2968T>G (p.Trp990Gly) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV001320490] |
Chr1:201062029 [GRCh38]
Chr1:201031157 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.4025C>T (p.Ser1342Leu) |
single nucleotide variant |
Congenital myopathy 18 [RCV003458674]|Hypokalemic periodic paralysis, type 1 [RCV001347104]|Hypokalemic periodic paralysis, type 1 [RCV002493788]|Hypokalemic periodic paralysis, type 1 [RCV003449971]|Malignant hyperthermia, susceptibility to, 5 [RCV003449972]|Thyrotoxic periodic paralysis, susceptibility to, 1 [RCV003449973]|not provided [RCV001776209] |
Chr1:201051072 [GRCh38]
Chr1:201020200 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.258+6A>G |
single nucleotide variant |
Congenital myopathy 18 [RCV003446708]|Hypokalemic periodic paralysis, type 1 [RCV001324343]|Hypokalemic periodic paralysis, type 1 [RCV002499635]|Hypokalemic periodic paralysis, type 1 [RCV003446705]|Malignant hyperthermia, susceptibility to, 5 [RCV003446706]|Thyrotoxic periodic paralysis, susceptibility to, 1 [RCV003446707] |
Chr1:201110158 [GRCh38]
Chr1:201079286 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.4250T>A (p.Ile1417Asn) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV001372444]|Inborn genetic diseases [RCV002548661] |
Chr1:201049091 [GRCh38]
Chr1:201018219 [GRCh37]
Chr1:1q32.1 |
likely benign|uncertain significance |
| NM_000069.3(CACNA1S):c.5482A>G (p.Met1828Val) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV001372458] |
Chr1:201039971 [GRCh38]
Chr1:201009099 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.4598T>C (p.Phe1533Ser) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV001326852]|not provided [RCV003159199] |
Chr1:201047185 [GRCh38]
Chr1:201016313 [GRCh37]
Chr1:1q32.1 |
likely benign|uncertain significance |
| NM_000069.3(CACNA1S):c.197T>C (p.Val66Ala) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV001324361] |
Chr1:201110225 [GRCh38]
Chr1:201079353 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.4132G>T (p.Ala1378Ser) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV001295579] |
Chr1:201050498 [GRCh38]
Chr1:201019626 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.5209_5226+3dup |
duplication |
Hypokalemic periodic paralysis, type 1 [RCV001327778] |
Chr1:201040618..201040619 [GRCh38]
Chr1:201009746..201009747 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.1277A>G (p.His426Arg) |
single nucleotide variant |
Congenital myopathy 18 [RCV003458668]|Hypokalemic periodic paralysis, type 1 [RCV001322335]|Hypokalemic periodic paralysis, type 1 [RCV002493685]|Hypokalemic periodic paralysis, type 1 [RCV003456218]|Malignant hyperthermia, susceptibility to, 5 [RCV003449924]|Thyrotoxic periodic paralysis, susceptibility to, 1 [RCV003456219]|not provided [RCV001751621] |
Chr1:201083278 [GRCh38]
Chr1:201052406 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.2218G>A (p.Asp740Asn) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV001372783]|Inborn genetic diseases [RCV003169919]|Malignant hyperthermia, susceptibility to, 5 [RCV003517329] |
Chr1:201072764 [GRCh38]
Chr1:201041892 [GRCh37]
Chr1:1q32.1 |
benign|uncertain significance |
| NM_000069.3(CACNA1S):c.1855A>G (p.Met619Val) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV001347797] |
Chr1:201075588 [GRCh38]
Chr1:201044716 [GRCh37]
Chr1:1q32.1 |
likely benign|uncertain significance |
| NM_000069.3(CACNA1S):c.2201A>T (p.Asp734Val) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV001307131] |
Chr1:201072781 [GRCh38]
Chr1:201041909 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.3040G>C (p.Glu1014Gln) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV001299518] |
Chr1:201061957 [GRCh38]
Chr1:201031085 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.4154A>G (p.Asp1385Gly) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV001294934] |
Chr1:201050476 [GRCh38]
Chr1:201019604 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.1828-16_1828-4del |
deletion |
Hypokalemic periodic paralysis, type 1 [RCV001298749] |
Chr1:201075619..201075631 [GRCh38]
Chr1:201044747..201044759 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.3454A>G (p.Ile1152Val) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV001309209]|Hypokalemic periodic paralysis, type 1 [RCV002476428] |
Chr1:201059260 [GRCh38]
Chr1:201028388 [GRCh37]
Chr1:1q32.1 |
likely benign|uncertain significance |
| NM_000069.3(CACNA1S):c.1939T>C (p.Cys647Arg) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV001363797] |
Chr1:201075504 [GRCh38]
Chr1:201044632 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.905A>G (p.Asn302Ser) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV001308361] |
Chr1:201087925 [GRCh38]
Chr1:201057053 [GRCh37]
Chr1:1q32.1 |
likely benign|uncertain significance |
| NM_000069.3(CACNA1S):c.3401G>C (p.Cys1134Ser) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV001301177] |
Chr1:201060671 [GRCh38]
Chr1:201029799 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.2647A>C (p.Met883Leu) |
single nucleotide variant |
Congenital myopathy 18 [RCV003458673]|Hypokalemic periodic paralysis, type 1 [RCV001343372]|Hypokalemic periodic paralysis, type 1 [RCV002476584]|Hypokalemic periodic paralysis, type 1 [RCV003449965]|Malignant hyperthermia, susceptibility to, 5 [RCV003449966]|Thyrotoxic periodic paralysis, susceptibility to, 1 [RCV003449967] |
Chr1:201066897 [GRCh38]
Chr1:201036025 [GRCh37]
Chr1:1q32.1 |
likely benign|uncertain significance |
| NM_000069.3(CACNA1S):c.2853+6C>T |
single nucleotide variant |
Congenital myopathy 18 [RCV003446704]|Hypokalemic periodic paralysis, type 1 [RCV001322671]|Hypokalemic periodic paralysis, type 1 [RCV002476514]|Hypokalemic periodic paralysis, type 1 [RCV003446701]|Malignant hyperthermia, susceptibility to, 5 [RCV003446702]|Thyrotoxic periodic paralysis, susceptibility to, 1 [RCV003446703] |
Chr1:201065832 [GRCh38]
Chr1:201034960 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.3982A>G (p.Ile1328Val) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV001314436] |
Chr1:201051115 [GRCh38]
Chr1:201020243 [GRCh37]
Chr1:1q32.1 |
likely benign|uncertain significance |
| NM_000069.3(CACNA1S):c.774C>T (p.Gly258=) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV001366118] |
Chr1:201089384 [GRCh38]
Chr1:201058512 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.3667-4G>T |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV001325262] |
Chr1:201053591 [GRCh38]
Chr1:201022719 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.4114G>T (p.Val1372Phe) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV001306892] |
Chr1:201050516 [GRCh38]
Chr1:201019644 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.1547C>G (p.Ser516Trp) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV001366241] |
Chr1:201077951 [GRCh38]
Chr1:201047079 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.2182A>G (p.Asn728Asp) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV001314940] |
Chr1:201072800 [GRCh38]
Chr1:201041928 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.835G>A (p.Gly279Ser) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV001367798]|Hypokalemic periodic paralysis, type 1 [RCV002499751]|not provided [RCV002285479] |
Chr1:201089323 [GRCh38]
Chr1:201058451 [GRCh37]
Chr1:1q32.1 |
likely benign|uncertain significance |
| NM_000069.3(CACNA1S):c.5370+6C>A |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV001367203] |
Chr1:201040225 [GRCh38]
Chr1:201009353 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.85C>T (p.Arg29Trp) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV001367207] |
Chr1:201112255 [GRCh38]
Chr1:201081383 [GRCh37]
Chr1:1q32.1 |
likely benign|uncertain significance |
| NM_000069.3(CACNA1S):c.5394C>A (p.Gly1798=) |
single nucleotide variant |
Congenital myopathy 18 [RCV003458703]|Hypokalemic periodic paralysis, type 1 [RCV001422047]|Hypokalemic periodic paralysis, type 1 [RCV002499909]|Hypokalemic periodic paralysis, type 1 [RCV003451728]|Malignant hyperthermia, susceptibility to, 5 [RCV003451729]|Thyrotoxic periodic paralysis, susceptibility to, 1 [RCV003451730] |
Chr1:201040059 [GRCh38]
Chr1:201009187 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.3137T>A (p.Ile1046Asn) |
single nucleotide variant |
Congenital myopathy 18 [RCV003458666]|Hypokalemic periodic paralysis, type 1 [RCV001318980]|Hypokalemic periodic paralysis, type 1 [RCV002493670]|Hypokalemic periodic paralysis, type 1 [RCV003449910]|Malignant hyperthermia, susceptibility to, 5 [RCV003456214]|Thyrotoxic periodic paralysis, susceptibility to, 1 [RCV003456215]|not provided [RCV001536486] |
Chr1:201061385 [GRCh38]
Chr1:201030513 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.5217C>T (p.Ala1739=) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV001395872] |
Chr1:201040631 [GRCh38]
Chr1:201009759 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.2273C>T (p.Pro758Leu) |
single nucleotide variant |
Congenital myopathy 18 [RCV003458672]|Hypokalemic periodic paralysis, type 1 [RCV001338422]|Hypokalemic periodic paralysis, type 1 [RCV002499669]|Hypokalemic periodic paralysis, type 1 [RCV003456222]|Malignant hyperthermia, susceptibility to, 5 [RCV003449958]|Thyrotoxic periodic paralysis, susceptibility to, 1 [RCV003449959] |
Chr1:201070359 [GRCh38]
Chr1:201039487 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.2166C>T (p.Ile722=) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV001395348] |
Chr1:201072816 [GRCh38]
Chr1:201041944 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.3414+2dup |
duplication |
Hypokalemic periodic paralysis, type 1 [RCV001339027]|not provided [RCV003481081] |
Chr1:201060655..201060656 [GRCh38]
Chr1:201029783..201029784 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.9A>T (p.Pro3=) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV001395170] |
Chr1:201112331 [GRCh38]
Chr1:201081459 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NC_000001.10:g.(?_130980840)_(248900000_?)dup |
duplication |
Gastrointestinal stromal tumor [RCV001300221]|Parathyroid carcinoma [RCV001341077] |
Chr1:130980840..248900000 [GRCh37]
Chr1:1q12-44 |
uncertain significance |
| NM_000069.3(CACNA1S):c.3579C>T (p.Ser1193=) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV001413011] |
Chr1:201058438 [GRCh38]
Chr1:201027566 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.834C>T (p.Phe278=) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV001435322] |
Chr1:201089324 [GRCh38]
Chr1:201058452 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.1356G>A (p.Glu452=) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV001492209] |
Chr1:201083199 [GRCh38]
Chr1:201052327 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.1340T>C (p.Leu447Pro) |
single nucleotide variant |
not provided [RCV001508032] |
Chr1:201083215 [GRCh38]
Chr1:201052343 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.5583C>T (p.His1861=) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV001404586] |
Chr1:201039870 [GRCh38]
Chr1:201008998 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.3801A>G (p.Leu1267=) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV001475092] |
Chr1:201053269 [GRCh38]
Chr1:201022397 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.4674G>C (p.Gly1558=) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV001417316] |
Chr1:201044451 [GRCh38]
Chr1:201013579 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.54G>A (p.Lys18=) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV001441377] |
Chr1:201112286 [GRCh38]
Chr1:201081414 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.120G>A (p.Leu40=) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV001478540] |
Chr1:201112220 [GRCh38]
Chr1:201081348 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.3537A>G (p.Gly1179=) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV001492464] |
Chr1:201058480 [GRCh38]
Chr1:201027608 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.4798-5C>T |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV001475300] |
Chr1:201043536 [GRCh38]
Chr1:201012664 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.1302C>T (p.Phe434=) |
single nucleotide variant |
Congenital myopathy 18 [RCV003458701]|Hypokalemic periodic paralysis, type 1 [RCV001405023]|Hypokalemic periodic paralysis, type 1 [RCV002499865]|Hypokalemic periodic paralysis, type 1 [RCV003451714]|Malignant hyperthermia, susceptibility to, 5 [RCV003456226]|Thyrotoxic periodic paralysis, susceptibility to, 1 [RCV003456227] |
Chr1:201083253 [GRCh38]
Chr1:201052381 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.276C>T (p.Phe92=) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV001455454] |
Chr1:201094004 [GRCh38]
Chr1:201063132 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.2854-6C>T |
single nucleotide variant |
Congenital myopathy 18 [RCV003446773]|Hypokalemic periodic paralysis, type 1 [RCV001486053]|Hypokalemic periodic paralysis, type 1 [RCV002506561]|Hypokalemic periodic paralysis, type 1 [RCV003446770]|Malignant hyperthermia, susceptibility to, 5 [RCV003446771]|Thyrotoxic periodic paralysis, susceptibility to, 1 [RCV003446772] |
Chr1:201062520 [GRCh38]
Chr1:201031648 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.4047G>A (p.Glu1349=) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV001484950] |
Chr1:201051050 [GRCh38]
Chr1:201020178 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.165G>C (p.Thr55=) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV001467644] |
Chr1:201110257 [GRCh38]
Chr1:201079385 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.3627C>T (p.Ser1209=) |
single nucleotide variant |
CACNA1S-related condition [RCV003953733]|Hypokalemic periodic paralysis, type 1 [RCV001402722] |
Chr1:201054544 [GRCh38]
Chr1:201023672 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.2928G>A (p.Lys976=) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV001505315] |
Chr1:201062069 [GRCh38]
Chr1:201031197 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.1146A>G (p.Arg382=) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV001471458] |
Chr1:201085440 [GRCh38]
Chr1:201054568 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.5361G>A (p.Leu1787=) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV001469165] |
Chr1:201040240 [GRCh38]
Chr1:201009368 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.1959C>G (p.Leu653=) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV001506769] |
Chr1:201074610 [GRCh38]
Chr1:201043738 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.2361-4C>T |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV001488957]|Malignant hyperthermia, susceptibility to, 5 [RCV003517331] |
Chr1:201069605 [GRCh38]
Chr1:201038733 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.4248A>G (p.Arg1416=) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV001489001] |
Chr1:201049093 [GRCh38]
Chr1:201018221 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.1394-8C>T |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV001472323] |
Chr1:201078112 [GRCh38]
Chr1:201047240 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.2766C>T (p.Phe922=) |
single nucleotide variant |
Congenital myopathy 18 [RCV003458707]|Hypokalemic periodic paralysis, type 1 [RCV001491822]|Hypokalemic periodic paralysis, type 1 [RCV002501686]|Hypokalemic periodic paralysis, type 1 [RCV003456232]|Malignant hyperthermia, susceptibility to, 5 [RCV003456233]|Thyrotoxic periodic paralysis, susceptibility to, 1 [RCV003456234] |
Chr1:201065925 [GRCh38]
Chr1:201035053 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.3456C>T (p.Ile1152=) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV001493350] |
Chr1:201059258 [GRCh38]
Chr1:201028386 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.4881C>A (p.Pro1627=) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV001467578] |
Chr1:201043448 [GRCh38]
Chr1:201012576 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.4452G>A (p.Glu1484=) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV001416356] |
Chr1:201047616 [GRCh38]
Chr1:201016744 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.2746-8G>A |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV001464607] |
Chr1:201065953 [GRCh38]
Chr1:201035081 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.4263C>T (p.Asp1421=) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV001427355] |
Chr1:201049078 [GRCh38]
Chr1:201018206 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.1350C>T (p.Ala450=) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV001427440] |
Chr1:201083205 [GRCh38]
Chr1:201052333 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.699C>A (p.Ile233=) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV001428848] |
Chr1:201089459 [GRCh38]
Chr1:201058587 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.4458C>T (p.Ala1486=) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV001448820] |
Chr1:201047610 [GRCh38]
Chr1:201016738 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.1815C>T (p.Ile605=) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV001417412] |
Chr1:201076932 [GRCh38]
Chr1:201046060 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.1274del (p.Cys425fs) |
deletion |
Hypokalemic periodic paralysis, type 1 [RCV001387418] |
Chr1:201083281 [GRCh38]
Chr1:201052409 [GRCh37]
Chr1:1q32.1 |
pathogenic |
| NM_000069.3(CACNA1S):c.2658-10C>T |
single nucleotide variant |
Congenital myopathy 18 [RCV003446744]|Hypokalemic periodic paralysis, type 1 [RCV001404625]|Hypokalemic periodic paralysis, type 1 [RCV002493957]|Hypokalemic periodic paralysis, type 1 [RCV003446741]|Malignant hyperthermia, susceptibility to, 5 [RCV003446742]|Thyrotoxic periodic paralysis, susceptibility to, 1 [RCV003446743] |
Chr1:201066326 [GRCh38]
Chr1:201035454 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.5506C>A (p.Arg1836=) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV001428923] |
Chr1:201039947 [GRCh38]
Chr1:201009075 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.3796-10C>T |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV001407247] |
Chr1:201053284 [GRCh38]
Chr1:201022412 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.4908A>G (p.Glu1636=) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV001444218] |
Chr1:201043421 [GRCh38]
Chr1:201012549 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.90C>G (p.Ala30=) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV001435890] |
Chr1:201112250 [GRCh38]
Chr1:201081378 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.2490+127A>G |
single nucleotide variant |
not provided [RCV001541499] |
Chr1:201069345 [GRCh38]
Chr1:201038473 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.2874C>T (p.Thr958=) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV001444331] |
Chr1:201062494 [GRCh38]
Chr1:201031622 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.4008G>A (p.Lys1336=) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV001399729] |
Chr1:201051089 [GRCh38]
Chr1:201020217 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.152+9C>T |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV001437134] |
Chr1:201112179 [GRCh38]
Chr1:201081307 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.819C>T (p.Thr273=) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV001392931] |
Chr1:201089339 [GRCh38]
Chr1:201058467 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.436del (p.Gln146fs) |
deletion |
Hypokalemic periodic paralysis, type 1 [RCV001381206] |
Chr1:201092077 [GRCh38]
Chr1:201061205 [GRCh37]
Chr1:1q32.1 |
pathogenic |
| NM_000069.3(CACNA1S):c.294G>A (p.Ser98=) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV001398326] |
Chr1:201093986 [GRCh38]
Chr1:201063114 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.1411C>T (p.Leu471=) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV001440271] |
Chr1:201078087 [GRCh38]
Chr1:201047215 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.2235C>T (p.Asp745=) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV001405938] |
Chr1:201070397 [GRCh38]
Chr1:201039525 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.4442-2A>G |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV001377024] |
Chr1:201047628 [GRCh38]
Chr1:201016756 [GRCh37]
Chr1:1q32.1 |
likely pathogenic |
| NM_000069.3(CACNA1S):c.4242-10C>G |
single nucleotide variant |
Congenital myopathy 18 [RCV003446748]|Hypokalemic periodic paralysis, type 1 [RCV001411221]|Hypokalemic periodic paralysis, type 1 [RCV002493969]|Hypokalemic periodic paralysis, type 1 [RCV003446745]|Malignant hyperthermia, susceptibility to, 5 [RCV003446746]|Thyrotoxic periodic paralysis, susceptibility to, 1 [RCV003446747] |
Chr1:201049109 [GRCh38]
Chr1:201018237 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.258+7T>C |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV001419531] |
Chr1:201110157 [GRCh38]
Chr1:201079285 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.2571C>T (p.Phe857=) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV001429754] |
Chr1:201066973 [GRCh38]
Chr1:201036101 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.4737T>C (p.Ala1579=) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV001442768] |
Chr1:201044388 [GRCh38]
Chr1:201013516 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.930C>T (p.Pro310=) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV001445676] |
Chr1:201087900 [GRCh38]
Chr1:201057028 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.5091T>A (p.Pro1697=) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV001448202] |
Chr1:201041547 [GRCh38]
Chr1:201010675 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.1620-4T>G |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV001448115] |
Chr1:201077131 [GRCh38]
Chr1:201046259 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.3954-80C>A |
single nucleotide variant |
not provided [RCV001581499] |
Chr1:201051223 [GRCh38]
Chr1:201020351 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.1497C>T (p.Phe499=) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV001409011] |
Chr1:201078001 [GRCh38]
Chr1:201047129 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.4317C>T (p.Cys1439=) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV001406801] |
Chr1:201049024 [GRCh38]
Chr1:201018152 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.2217C>T (p.Ala739=) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV001472325] |
Chr1:201072765 [GRCh38]
Chr1:201041893 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.106C>T (p.Leu36=) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV001468466] |
Chr1:201112234 [GRCh38]
Chr1:201081362 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.1394-8C>A |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV001450143]|Malignant hyperthermia, susceptibility to, 5 [RCV003517330] |
Chr1:201078112 [GRCh38]
Chr1:201047240 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.1575C>T (p.Ser525=) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV001482282] |
Chr1:201077923 [GRCh38]
Chr1:201047051 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.695-60C>T |
single nucleotide variant |
not provided [RCV001593333] |
Chr1:201089523 [GRCh38]
Chr1:201058651 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.4113+116C>T |
single nucleotide variant |
not provided [RCV001725686] |
Chr1:201050868 [GRCh38]
Chr1:201019996 [GRCh37]
Chr1:1q32.1 |
benign |
| NM_000069.3(CACNA1S):c.1518C>T (p.Ser506=) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV001495725] |
Chr1:201077980 [GRCh38]
Chr1:201047108 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.2658-206T>C |
single nucleotide variant |
not provided [RCV001586481] |
Chr1:201066522 [GRCh38]
Chr1:201035650 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.3795+74C>A |
single nucleotide variant |
not provided [RCV001588768] |
Chr1:201053385 [GRCh38]
Chr1:201022513 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.1233-6C>T |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV001458037] |
Chr1:201083328 [GRCh38]
Chr1:201052456 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.4467G>A (p.Glu1489=) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV001476462] |
Chr1:201047601 [GRCh38]
Chr1:201016729 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.4113+7_4113+8inv |
inversion |
Congenital myopathy 18 [RCV003446783]|Hypokalemic periodic paralysis, type 1 [RCV001500225]|Hypokalemic periodic paralysis, type 1 [RCV002476801]|Hypokalemic periodic paralysis, type 1 [RCV003446780]|Malignant hyperthermia, susceptibility to, 5 [RCV003446781]|Thyrotoxic periodic paralysis, susceptibility to, 1 [RCV003446782] |
Chr1:201050976..201050977 [GRCh38]
Chr1:201020104..201020105 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.3415-30del |
deletion |
not provided [RCV001592554] |
Chr1:201059329 [GRCh38]
Chr1:201028457 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.3054-148C>T |
single nucleotide variant |
not provided [RCV001592072] |
Chr1:201061616 [GRCh38]
Chr1:201030744 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.4441+108A>C |
single nucleotide variant |
not provided [RCV001674487] |
Chr1:201048474 [GRCh38]
Chr1:201017602 [GRCh37]
Chr1:1q32.1 |
benign |
| NM_000069.3(CACNA1S):c.1151-195C>A |
single nucleotide variant |
not provided [RCV001587595] |
Chr1:201085226 [GRCh38]
Chr1:201054354 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.2100G>C (p.Thr700=) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV001453894] |
Chr1:201073606 [GRCh38]
Chr1:201042734 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.1830A>G (p.Val610=) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV001461415] |
Chr1:201075613 [GRCh38]
Chr1:201044741 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.4798-7C>T |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV001450834] |
Chr1:201043538 [GRCh38]
Chr1:201012666 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.78G>A (p.Arg26=) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV001456757] |
Chr1:201112262 [GRCh38]
Chr1:201081390 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.2229G>A (p.Gly743=) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV001472922] |
Chr1:201070403 [GRCh38]
Chr1:201039531 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.1526T>C (p.Leu509Pro) |
single nucleotide variant |
not provided [RCV001508031] |
Chr1:201077972 [GRCh38]
Chr1:201047100 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.1575C>G (p.Ser525=) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV001431347] |
Chr1:201077923 [GRCh38]
Chr1:201047051 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.4242-5C>T |
single nucleotide variant |
Congenital myopathy 18 [RCV003446779]|Hypokalemic periodic paralysis, type 1 [RCV001497882]|Hypokalemic periodic paralysis, type 1 [RCV003446776]|Malignant hyperthermia, susceptibility to, 5 [RCV003446777]|Thyrotoxic periodic paralysis, susceptibility to, 1 [RCV003446778]|not provided [RCV002272474] |
Chr1:201049104 [GRCh38]
Chr1:201018232 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.201C>T (p.Ala67=) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV001462617] |
Chr1:201110221 [GRCh38]
Chr1:201079349 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.303C>T (p.Ala101=) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV001417418] |
Chr1:201093977 [GRCh38]
Chr1:201063105 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.4827C>T (p.Asp1609=) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV001460993] |
Chr1:201043502 [GRCh38]
Chr1:201012630 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.1690C>T (p.Leu564=) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV001406232] |
Chr1:201077057 [GRCh38]
Chr1:201046185 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.2922G>A (p.Val974=) |
single nucleotide variant |
Congenital myopathy 18 [RCV003458715]|Hypokalemic periodic paralysis, type 1 [RCV001516696]|Hypokalemic periodic paralysis, type 1 [RCV002495805]|Hypokalemic periodic paralysis, type 1 [RCV003451781]|Malignant hyperthermia, susceptibility to, 5 [RCV003451782]|Thyrotoxic periodic paralysis, susceptibility to, 1 [RCV003451783] |
Chr1:201062075 [GRCh38]
Chr1:201031203 [GRCh37]
Chr1:1q32.1 |
benign|likely benign |
| NM_000069.3(CACNA1S):c.5322G>A (p.Glu1774=) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV001476164] |
Chr1:201040279 [GRCh38]
Chr1:201009407 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.3036C>T (p.Thr1012=) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV001497450] |
Chr1:201061961 [GRCh38]
Chr1:201031089 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.4241+9A>T |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV001440556] |
Chr1:201050380 [GRCh38]
Chr1:201019508 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.2158-2A>G |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV001378474] |
Chr1:201072826 [GRCh38]
Chr1:201041954 [GRCh37]
Chr1:1q32.1 |
likely pathogenic |
| NM_000069.3(CACNA1S):c.2628G>A (p.Val876=) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV001417802] |
Chr1:201066916 [GRCh38]
Chr1:201036044 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.2028C>A (p.Ala676=) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV001423564] |
Chr1:201074541 [GRCh38]
Chr1:201043669 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.3564G>A (p.Leu1188=) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV001454380] |
Chr1:201058453 [GRCh38]
Chr1:201027581 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.1642C>T (p.Leu548=) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV001467883] |
Chr1:201077105 [GRCh38]
Chr1:201046233 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.1461C>A (p.Gly487=) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV001419747] |
Chr1:201078037 [GRCh38]
Chr1:201047165 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.1619+9C>G |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV001459275] |
Chr1:201077870 [GRCh38]
Chr1:201046998 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.2349C>T (p.Ser783=) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV001488877] |
Chr1:201070283 [GRCh38]
Chr1:201039411 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.2067T>G (p.Gly689=) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV001437729] |
Chr1:201073639 [GRCh38]
Chr1:201042767 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.747C>T (p.Gly249=) |
single nucleotide variant |
CACNA1S-related condition [RCV003965805]|Hypokalemic periodic paralysis, type 1 [RCV001426865] |
Chr1:201089411 [GRCh38]
Chr1:201058539 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.5256G>A (p.Glu1752=) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV001489348] |
Chr1:201040345 [GRCh38]
Chr1:201009473 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.3667-6C>T |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV001402508] |
Chr1:201053593 [GRCh38]
Chr1:201022721 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.695-8G>A |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV001393992] |
Chr1:201089471 [GRCh38]
Chr1:201058599 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.4872T>C (p.Asn1624=) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV001394298] |
Chr1:201043457 [GRCh38]
Chr1:201012585 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.12C>T (p.Ser4=) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV001505854] |
Chr1:201112328 [GRCh38]
Chr1:201081456 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.3971C>T (p.Ala1324Val) |
single nucleotide variant |
not provided [RCV001726776] |
Chr1:201051126 [GRCh38]
Chr1:201020254 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.1694T>A (p.Leu565Gln) |
single nucleotide variant |
not specified [RCV002238694] |
Chr1:201077053 [GRCh38]
Chr1:201046181 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.1857_1860delinsTATT (p.Met619_Met620delinsIleIle) |
indel |
not provided [RCV001755538] |
Chr1:201075583..201075586 [GRCh38]
Chr1:201044711..201044714 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.542G>C (p.Ser181Thr) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV003772062]|not provided [RCV001755279] |
Chr1:201091792 [GRCh38]
Chr1:201060920 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.3415-1G>A |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV002034580] |
Chr1:201059300 [GRCh38]
Chr1:201028428 [GRCh37]
Chr1:1q32.1 |
likely pathogenic |
| NM_000069.3(CACNA1S):c.1347C>G (p.Ile449Met) |
single nucleotide variant |
See cases [RCV002252868] |
Chr1:201083208 [GRCh38]
Chr1:201052336 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.3080A>T (p.Asn1027Ile) |
single nucleotide variant |
Long QT syndrome [RCV003318439] |
Chr1:201061442 [GRCh38]
Chr1:201030570 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.4616G>T (p.Arg1539Leu) |
single nucleotide variant |
Congenital myopathy 18 [RCV003458764]|Hypokalemic periodic paralysis, type 1 [RCV003146238]|Malignant hyperthermia, susceptibility to, 5 [RCV003451921]|Thyrotoxic periodic paralysis, susceptibility to, 1 [RCV003451922]|not provided [RCV001776386] |
Chr1:201047167 [GRCh38]
Chr1:201016295 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.4099C>G (p.Leu1367Val) |
single nucleotide variant |
Congenital myopathy 18 [RCV003222344]|not provided [RCV001776432] |
Chr1:201050998 [GRCh38]
Chr1:201020126 [GRCh37]
Chr1:1q32.1 |
pathogenic|uncertain significance |
| NM_000069.3(CACNA1S):c.1564C>G (p.Leu522Val) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV003772092]|not provided [RCV001768243] |
Chr1:201077934 [GRCh38]
Chr1:201047062 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.1552G>A (p.Ala518Thr) |
single nucleotide variant |
Congenital myopathy 18 [RCV003458763]|Hypokalemic periodic paralysis, type 1 [RCV002489819]|Hypokalemic periodic paralysis, type 1 [RCV003451910]|Malignant hyperthermia, susceptibility to, 5 [RCV003451911]|Thyrotoxic periodic paralysis, susceptibility to, 1 [RCV003451912]|not provided [RCV001768294] |
Chr1:201077946 [GRCh38]
Chr1:201047074 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.1439T>A (p.Leu480Gln) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV003772112]|not provided [RCV001776349] |
Chr1:201078059 [GRCh38]
Chr1:201047187 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.3667-1G>A |
single nucleotide variant |
not provided [RCV003487005] |
Chr1:201053588 [GRCh38]
Chr1:201022716 [GRCh37]
Chr1:1q32.1 |
likely pathogenic |
| NM_000069.3(CACNA1S):c.3685C>T (p.Arg1229Cys) |
single nucleotide variant |
not provided [RCV001768335] |
Chr1:201053569 [GRCh38]
Chr1:201022697 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.3954-47G>A |
single nucleotide variant |
not provided [RCV001800135] |
Chr1:201051190 [GRCh38]
Chr1:201020318 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.3256-9G>A |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV003772075]|not provided [RCV001774900] |
Chr1:201060825 [GRCh38]
Chr1:201029953 [GRCh37]
Chr1:1q32.1 |
likely benign|uncertain significance |
| NM_000069.3(CACNA1S):c.149G>A (p.Trp50Ter) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV001784063] |
Chr1:201112191 [GRCh38]
Chr1:201081319 [GRCh37]
Chr1:1q32.1 |
pathogenic |
| NM_000069.3(CACNA1S):c.4611G>C (p.Met1537Ile) |
single nucleotide variant |
not provided [RCV001757314] |
Chr1:201047172 [GRCh38]
Chr1:201016300 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.3067G>A (p.Ala1023Thr) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV002506804]|Hypokalemic periodic paralysis, type 1 [RCV002540652]|not provided [RCV001757784] |
Chr1:201061455 [GRCh38]
Chr1:201030583 [GRCh37]
Chr1:1q32.1 |
benign|uncertain significance |
| NM_000069.3(CACNA1S):c.550G>A (p.Val184Met) |
single nucleotide variant |
Congenital myopathy 18 [RCV003458765]|Hypokalemic periodic paralysis, type 1 [RCV001810318]|Malignant hyperthermia, susceptibility to, 5 [RCV003451923]|Thyrotoxic periodic paralysis, susceptibility to, 1 [RCV003451924]|not provided [RCV001776845] |
Chr1:201091784 [GRCh38]
Chr1:201060912 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.1827+5G>C |
single nucleotide variant |
not provided [RCV001768320] |
Chr1:201076915 [GRCh38]
Chr1:201046043 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.4864A>C (p.Met1622Leu) |
single nucleotide variant |
not provided [RCV001757307] |
Chr1:201043465 [GRCh38]
Chr1:201012593 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.2225C>T (p.Pro742Leu) |
single nucleotide variant |
not provided [RCV001757766] |
Chr1:201072757 [GRCh38]
Chr1:201041885 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.4264G>A (p.Val1422Met) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV002544177]|not provided [RCV001758913] |
Chr1:201049077 [GRCh38]
Chr1:201018205 [GRCh37]
Chr1:1q32.1 |
likely benign|uncertain significance |
| NM_000069.3(CACNA1S):c.324C>G (p.Tyr108Ter) |
single nucleotide variant |
Abnormality of the musculature [RCV001814367] |
Chr1:201093956 [GRCh38]
Chr1:201063084 [GRCh37]
Chr1:1q32.1 |
likely pathogenic |
| NM_000069.3(CACNA1S):c.1151-3C>T |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV001907760] |
Chr1:201085034 [GRCh38]
Chr1:201054162 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.3724A>G (p.Arg1242Gly) |
single nucleotide variant |
Abnormality of the musculature [RCV001814470] |
Chr1:201053530 [GRCh38]
Chr1:201022658 [GRCh37]
Chr1:1q32.1 |
pathogenic |
| NM_000069.3(CACNA1S):c.4316G>T (p.Cys1439Phe) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV001806442] |
Chr1:201049025 [GRCh38]
Chr1:201018153 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.2700G>T (p.Arg900Ser) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV002025822]|Hypokalemic periodic paralysis, type 1 [RCV002307830] |
Chr1:201066274 [GRCh38]
Chr1:201035402 [GRCh37]
Chr1:1q32.1 |
likely pathogenic|not provided |
| NM_000069.3(CACNA1S):c.3757G>A (p.Val1253Met) |
single nucleotide variant |
Congenital myopathy 18 [RCV003458776]|Hypokalemic periodic paralysis, type 1 [RCV001863487]|Hypokalemic periodic paralysis, type 1 [RCV003456245]|Malignant hyperthermia, susceptibility to, 5 [RCV003451987]|Thyrotoxic periodic paralysis, susceptibility to, 1 [RCV003456246]|not provided [RCV002511102] |
Chr1:201053497 [GRCh38]
Chr1:201022625 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.5423T>C (p.Met1808Thr) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV001949818] |
Chr1:201040030 [GRCh38]
Chr1:201009158 [GRCh37]
Chr1:1q32.1 |
likely benign|uncertain significance |
| NM_000069.3(CACNA1S):c.314T>G (p.Ile105Ser) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV002044694] |
Chr1:201093966 [GRCh38]
Chr1:201063094 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.1087del (p.Leu363fs) |
deletion |
Hypokalemic periodic paralysis, type 1 [RCV001987695] |
Chr1:201085499 [GRCh38]
Chr1:201054627 [GRCh37]
Chr1:1q32.1 |
pathogenic |
| NM_000069.3(CACNA1S):c.4250T>C (p.Ile1417Thr) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV001864307] |
Chr1:201049091 [GRCh38]
Chr1:201018219 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.3953+5G>A |
single nucleotide variant |
Congenital myopathy 18 [RCV003446935]|Hypokalemic periodic paralysis, type 1 [RCV001929926]|Hypokalemic periodic paralysis, type 1 [RCV002478152]|Hypokalemic periodic paralysis, type 1 [RCV003446932]|Malignant hyperthermia, susceptibility to, 5 [RCV003446933]|Thyrotoxic periodic paralysis, susceptibility to, 1 [RCV003446934]|not provided [RCV003320851] |
Chr1:201052552 [GRCh38]
Chr1:201021680 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.5532C>G (p.Ser1844Arg) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV001910129] |
Chr1:201039921 [GRCh38]
Chr1:201009049 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.5206G>A (p.Ala1736Thr) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV001950250] |
Chr1:201040642 [GRCh38]
Chr1:201009770 [GRCh37]
Chr1:1q32.1 |
benign|uncertain significance |
| NM_000069.3(CACNA1S):c.543C>T (p.Ser181=) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV001915074] |
Chr1:201091791 [GRCh38]
Chr1:201060919 [GRCh37]
Chr1:1q32.1 |
likely benign|uncertain significance |
| NM_000069.3(CACNA1S):c.4717A>T (p.Thr1573Ser) |
single nucleotide variant |
Congenital myopathy 18 [RCV003458808]|Hypokalemic periodic paralysis, type 1 [RCV001964075]|Hypokalemic periodic paralysis, type 1 [RCV003453896]|Malignant hyperthermia, susceptibility to, 5 [RCV003453897]|Thyrotoxic periodic paralysis, susceptibility to, 1 [RCV003453898]|not provided [RCV002243495] |
Chr1:201044408 [GRCh38]
Chr1:201013536 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.2977A>G (p.Ser993Gly) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV001950110] |
Chr1:201062020 [GRCh38]
Chr1:201031148 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.5307C>T (p.Ser1769=) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV001969172] |
Chr1:201040294 [GRCh38]
Chr1:201009422 [GRCh37]
Chr1:1q32.1 |
likely benign|uncertain significance |
| NM_000069.3(CACNA1S):c.29G>A (p.Gly10Asp) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV001914062] |
Chr1:201112311 [GRCh38]
Chr1:201081439 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.4915G>C (p.Glu1639Gln) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV001949797] |
Chr1:201043414 [GRCh38]
Chr1:201012542 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.2926A>G (p.Lys976Glu) |
single nucleotide variant |
not provided [RCV001843656] |
Chr1:201062071 [GRCh38]
Chr1:201031199 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.3195T>G (p.Ile1065Met) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV002023596] |
Chr1:201061327 [GRCh38]
Chr1:201030455 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.494G>A (p.Arg165Lys) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV002024642] |
Chr1:201092019 [GRCh38]
Chr1:201061147 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.2157+3G>A |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV002021289] |
Chr1:201073546 [GRCh38]
Chr1:201042674 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.3437T>C (p.Met1146Thr) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV002024696] |
Chr1:201059277 [GRCh38]
Chr1:201028405 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.3428C>T (p.Ser1143Leu) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV002025894]|Inborn genetic diseases [RCV003170560] |
Chr1:201059286 [GRCh38]
Chr1:201028414 [GRCh37]
Chr1:1q32.1 |
benign|uncertain significance |
| NM_000069.3(CACNA1S):c.1781G>T (p.Arg594Leu) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV001915519]|Hypokalemic periodic paralysis, type 1 [RCV002482793] |
Chr1:201076966 [GRCh38]
Chr1:201046094 [GRCh37]
Chr1:1q32.1 |
likely benign|uncertain significance |
| NM_000069.3(CACNA1S):c.4165C>T (p.Arg1389Trp) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV001967687] |
Chr1:201050465 [GRCh38]
Chr1:201019593 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.1123G>T (p.Val375Phe) |
single nucleotide variant |
Congenital myopathy 18 [RCV003458796]|Hypokalemic periodic paralysis, type 1 [RCV001967522]|Hypokalemic periodic paralysis, type 1 [RCV002503655]|Hypokalemic periodic paralysis, type 1 [RCV003456261]|Malignant hyperthermia, susceptibility to, 5 [RCV003452199]|Thyrotoxic periodic paralysis, susceptibility to, 1 [RCV003452200] |
Chr1:201085463 [GRCh38]
Chr1:201054591 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.3173A>G (p.Asn1058Ser) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV002021734] |
Chr1:201061349 [GRCh38]
Chr1:201030477 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.3463G>A (p.Val1155Met) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV001891556] |
Chr1:201059251 [GRCh38]
Chr1:201028379 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.858_860dup (p.Tyr286_Gln287insHis) |
duplication |
Hypokalemic periodic paralysis, type 1 [RCV001985358] |
Chr1:201089297..201089298 [GRCh38]
Chr1:201058425..201058426 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.206C>A (p.Ala69Asp) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV001984515]|not provided [RCV003481201] |
Chr1:201110216 [GRCh38]
Chr1:201079344 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.3532T>G (p.Phe1178Val) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV001964553] |
Chr1:201058485 [GRCh38]
Chr1:201027613 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.695-1G>A |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV002002715] |
Chr1:201089464 [GRCh38]
Chr1:201058592 [GRCh37]
Chr1:1q32.1 |
likely pathogenic |
| NM_000069.3(CACNA1S):c.4177A>G (p.Ile1393Val) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV001910609] |
Chr1:201050453 [GRCh38]
Chr1:201019581 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.157T>C (p.Phe53Leu) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV002004642] |
Chr1:201110265 [GRCh38]
Chr1:201079393 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.3934G>A (p.Ala1312Thr) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV001892173] |
Chr1:201052576 [GRCh38]
Chr1:201021704 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.806A>G (p.Asn269Ser) |
single nucleotide variant |
Congenital myopathy 18 [RCV003458783]|Hypokalemic periodic paralysis, type 1 [RCV001890472]|Hypokalemic periodic paralysis, type 1 [RCV002490111]|Hypokalemic periodic paralysis, type 1 [RCV003452052]|Malignant hyperthermia, susceptibility to, 5 [RCV003452053]|Thyrotoxic periodic paralysis, susceptibility to, 1 [RCV003452054] |
Chr1:201089352 [GRCh38]
Chr1:201058480 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.4775C>T (p.Ala1592Val) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV002039560] |
Chr1:201044350 [GRCh38]
Chr1:201013478 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.3053+19C>G |
single nucleotide variant |
Congenital myopathy 18 [RCV003446950]|Hypokalemic periodic paralysis, type 1 [RCV001909627]|Hypokalemic periodic paralysis, type 1 [RCV002503570]|Hypokalemic periodic paralysis, type 1 [RCV003446947]|Malignant hyperthermia, susceptibility to, 5 [RCV003446948]|Thyrotoxic periodic paralysis, susceptibility to, 1 [RCV003446949] |
Chr1:201061925 [GRCh38]
Chr1:201031053 [GRCh37]
Chr1:1q32.1 |
likely benign|uncertain significance |
| NM_000069.3(CACNA1S):c.4940T>C (p.Phe1647Ser) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV001987186] |
Chr1:201043389 [GRCh38]
Chr1:201012517 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.4860dup (p.Val1621fs) |
duplication |
Hypokalemic periodic paralysis, type 1 [RCV001909759]|not provided [RCV003487285] |
Chr1:201043468..201043469 [GRCh38]
Chr1:201012596..201012597 [GRCh37]
Chr1:1q32.1 |
pathogenic|uncertain significance |
| NM_000069.3(CACNA1S):c.1384C>T (p.Arg462Cys) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV002024734] |
Chr1:201083171 [GRCh38]
Chr1:201052299 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.2283_2284insCA (p.Ala762fs) |
insertion |
Hypokalemic periodic paralysis, type 1 [RCV002007174] |
Chr1:201070348..201070349 [GRCh38]
Chr1:201039476..201039477 [GRCh37]
Chr1:1q32.1 |
pathogenic |
| NM_000069.3(CACNA1S):c.2342T>G (p.Ile781Ser) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV002006746] |
Chr1:201070290 [GRCh38]
Chr1:201039418 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.1550G>A (p.Gly517Asp) |
single nucleotide variant |
Congenital myopathy 18 [RCV003458788]|Hypokalemic periodic paralysis, type 1 [RCV001893393]|Hypokalemic periodic paralysis, type 1 [RCV003452067]|Inborn genetic diseases [RCV002555205]|Malignant hyperthermia, susceptibility to, 5 [RCV003452068]|Thyrotoxic periodic paralysis, susceptibility to, 1 [RCV003452069] |
Chr1:201077948 [GRCh38]
Chr1:201047076 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.1642C>G (p.Leu548Val) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV001908747] |
Chr1:201077105 [GRCh38]
Chr1:201046233 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.3669C>G (p.Asp1223Glu) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV001970311] |
Chr1:201053585 [GRCh38]
Chr1:201022713 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.1624T>A (p.Trp542Arg) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV001891921] |
Chr1:201077123 [GRCh38]
Chr1:201046251 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.5526G>A (p.Met1842Ile) |
single nucleotide variant |
Congenital myopathy 18 [RCV003458777]|Hypokalemic periodic paralysis, type 1 [RCV001894843]|Hypokalemic periodic paralysis, type 1 [RCV003452032]|Malignant hyperthermia, susceptibility to, 5 [RCV003452033]|Thyrotoxic periodic paralysis, susceptibility to, 1 [RCV003452034]|not provided [RCV003154206] |
Chr1:201039927 [GRCh38]
Chr1:201009055 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.4353G>A (p.Met1451Ile) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV001914144] |
Chr1:201048670 [GRCh38]
Chr1:201017798 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.3796G>A (p.Ala1266Thr) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV002043842] |
Chr1:201053274 [GRCh38]
Chr1:201022402 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.1150+3T>C |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV001965750] |
Chr1:201085433 [GRCh38]
Chr1:201054561 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.5142C>A (p.His1714Gln) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV001945777] |
Chr1:201040706 [GRCh38]
Chr1:201009834 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.1233-1G>A |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV002022552]|Hypokalemic periodic paralysis, type 1 [RCV002282680]|Malignant hyperthermia, susceptibility to, 5 [RCV003446985] |
Chr1:201083323 [GRCh38]
Chr1:201052451 [GRCh37]
Chr1:1q32.1 |
likely pathogenic |
| GRCh37/hg19 1q25.2-32.1(chr1:179413479-201764737) |
copy number loss |
not specified [RCV002053780] |
Chr1:179413479..201764737 [GRCh37]
Chr1:1q25.2-32.1 |
pathogenic |
| NM_000069.3(CACNA1S):c.4502C>A (p.Thr1501Asn) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV002023232] |
Chr1:201047566 [GRCh38]
Chr1:201016694 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.3953+4C>T |
single nucleotide variant |
CACNA1S-related condition [RCV003892917]|Hypokalemic periodic paralysis, type 1 [RCV001892551] |
Chr1:201052553 [GRCh38]
Chr1:201021681 [GRCh37]
Chr1:1q32.1 |
likely benign|uncertain significance |
| NM_000069.3(CACNA1S):c.4415G>A (p.Arg1472His) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV002482385]|Hypokalemic periodic paralysis, type 1 [RCV002543266]|not provided [RCV001840886] |
Chr1:201048608 [GRCh38]
Chr1:201017736 [GRCh37]
Chr1:1q32.1 |
likely benign|uncertain significance |
| NM_000069.3(CACNA1S):c.1430C>T (p.Thr477Ile) |
single nucleotide variant |
Congenital myopathy 18 [RCV003458794]|Hypokalemic periodic paralysis, type 1 [RCV001967465]|Hypokalemic periodic paralysis, type 1 [RCV002491973]|Hypokalemic periodic paralysis, type 1 [RCV003452189]|Malignant hyperthermia, susceptibility to, 5 [RCV003456260]|Thyrotoxic periodic paralysis, susceptibility to, 1 [RCV003452190] |
Chr1:201078068 [GRCh38]
Chr1:201047196 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.818C>T (p.Thr273Ile) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV002021861] |
Chr1:201089340 [GRCh38]
Chr1:201058468 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.2708G>C (p.Arg903Pro) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV001877366] |
Chr1:201066266 [GRCh38]
Chr1:201035394 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.3658G>A (p.Gly1220Arg) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV001944023] |
Chr1:201054513 [GRCh38]
Chr1:201023641 [GRCh37]
Chr1:1q32.1 |
likely benign|uncertain significance |
| NM_000069.3(CACNA1S):c.398+6A>G |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV002000591] |
Chr1:201093876 [GRCh38]
Chr1:201063004 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.526G>C (p.Val176Leu) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV001901907] |
Chr1:201091987 [GRCh38]
Chr1:201061115 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.1793A>G (p.Asp598Gly) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV001888097] |
Chr1:201076954 [GRCh38]
Chr1:201046082 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.4834del (p.Leu1612fs) |
deletion |
Hypokalemic periodic paralysis, type 1 [RCV002037759] |
Chr1:201043495 [GRCh38]
Chr1:201012623 [GRCh37]
Chr1:1q32.1 |
pathogenic |
| NM_000069.3(CACNA1S):c.1401_1414del (p.Asn468fs) |
deletion |
Hypokalemic periodic paralysis, type 1 [RCV001962999]|Hypokalemic periodic paralysis, type 1 [RCV002497876]|Hypokalemic periodic paralysis, type 1 [RCV003333196]|Malignant hyperthermia, susceptibility to, 5 [RCV003453864] |
Chr1:201078084..201078097 [GRCh38]
Chr1:201047212..201047225 [GRCh37]
Chr1:1q32.1 |
pathogenic|likely pathogenic |
| NM_000069.3(CACNA1S):c.4472G>A (p.Arg1491Lys) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV002039037] |
Chr1:201047596 [GRCh38]
Chr1:201016724 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.1234C>T (p.Arg412Ter) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV002037707]|Hypokalemic periodic paralysis, type 1 [RCV002479575]|Hypokalemic periodic paralysis, type 1 [RCV003453849]|Malignant hyperthermia, susceptibility to, 5 [RCV003453850] |
Chr1:201083321 [GRCh38]
Chr1:201052449 [GRCh37]
Chr1:1q32.1 |
pathogenic|likely pathogenic |
| NM_000069.3(CACNA1S):c.707C>T (p.Thr236Met) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV002001260]|Hypokalemic periodic paralysis, type 1 [RCV002479671] |
Chr1:201089451 [GRCh38]
Chr1:201058579 [GRCh37]
Chr1:1q32.1 |
likely benign|uncertain significance |
| NM_000069.3(CACNA1S):c.5534C>T (p.Ser1845Phe) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV001944098] |
Chr1:201039919 [GRCh38]
Chr1:201009047 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.1393+13G>A |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV001999159] |
Chr1:201083149 [GRCh38]
Chr1:201052277 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.5299C>T (p.Pro1767Ser) |
single nucleotide variant |
Congenital myopathy 18 [RCV003458818]|Hypokalemic periodic paralysis, type 1 [RCV002038246]|Hypokalemic periodic paralysis, type 1 [RCV002486665]|Hypokalemic periodic paralysis, type 1 [RCV003453957]|Malignant hyperthermia, susceptibility to, 5 [RCV003456271]|Thyrotoxic periodic paralysis, susceptibility to, 1 [RCV003456272] |
Chr1:201040302 [GRCh38]
Chr1:201009430 [GRCh37]
Chr1:1q32.1 |
likely benign|uncertain significance |
| NM_000069.3(CACNA1S):c.3526-3C>T |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV001999220] |
Chr1:201058494 [GRCh38]
Chr1:201027622 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.4525G>A (p.Val1509Ile) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV001942463]|Hypokalemic periodic paralysis, type 1 [RCV002482533] |
Chr1:201047543 [GRCh38]
Chr1:201016671 [GRCh37]
Chr1:1q32.1 |
benign|uncertain significance |
| NM_000069.3(CACNA1S):c.340C>A (p.Gln114Lys) |
single nucleotide variant |
Congenital myopathy 18 [RCV003458786]|Hypokalemic periodic paralysis, type 1 [RCV001886655]|Hypokalemic periodic paralysis, type 1 [RCV002478259]|Hypokalemic periodic paralysis, type 1 [RCV003452063]|Malignant hyperthermia, susceptibility to, 5 [RCV003452064]|Thyrotoxic periodic paralysis, susceptibility to, 1 [RCV003452065] |
Chr1:201093940 [GRCh38]
Chr1:201063068 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.730C>T (p.Pro244Ser) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV001876803] |
Chr1:201089428 [GRCh38]
Chr1:201058556 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.4789A>G (p.Ile1597Val) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV001886384] |
Chr1:201044336 [GRCh38]
Chr1:201013464 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.1576G>A (p.Val526Met) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV001886411] |
Chr1:201077922 [GRCh38]
Chr1:201047050 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.1530G>T (p.Glu510Asp) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV001981525]|Hypokalemic periodic paralysis, type 1 [RCV002484733] |
Chr1:201077968 [GRCh38]
Chr1:201047096 [GRCh37]
Chr1:1q32.1 |
benign|uncertain significance |
| NM_000069.3(CACNA1S):c.103A>G (p.Thr35Ala) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV001883625] |
Chr1:201112237 [GRCh38]
Chr1:201081365 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.3776C>T (p.Thr1259Met) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV001933164] |
Chr1:201053478 [GRCh38]
Chr1:201022606 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.2942T>C (p.Met981Thr) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV001981294] |
Chr1:201062055 [GRCh38]
Chr1:201031183 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.2612T>C (p.Leu871Pro) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV002000685] |
Chr1:201066932 [GRCh38]
Chr1:201036060 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.85del (p.Arg29fs) |
deletion |
Hypokalemic periodic paralysis, type 1 [RCV001975134] |
Chr1:201112255 [GRCh38]
Chr1:201081383 [GRCh37]
Chr1:1q32.1 |
pathogenic |
| NM_000069.3(CACNA1S):c.1827+17C>T |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV001934877] |
Chr1:201076903 [GRCh38]
Chr1:201046031 [GRCh37]
Chr1:1q32.1 |
likely benign|uncertain significance |
| NM_000069.3(CACNA1S):c.5370+5G>A |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV002048045] |
Chr1:201040226 [GRCh38]
Chr1:201009354 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.3746G>A (p.Arg1249Gln) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV001917839]|Hypokalemic periodic paralysis, type 1 [RCV002506993]|Inborn genetic diseases [RCV002554327]|not provided [RCV002260713] |
Chr1:201053508 [GRCh38]
Chr1:201022636 [GRCh37]
Chr1:1q32.1 |
likely benign|uncertain significance |
| NM_000069.3(CACNA1S):c.5101G>A (p.Gly1701Arg) |
single nucleotide variant |
Congenital myopathy 18 [RCV003458792]|Hypokalemic periodic paralysis, type 1 [RCV001931138]|Hypokalemic periodic paralysis, type 1 [RCV002484537]|Hypokalemic periodic paralysis, type 1 [RCV003452169]|Malignant hyperthermia, susceptibility to, 5 [RCV003452170]|Thyrotoxic periodic paralysis, susceptibility to, 1 [RCV003452171] |
Chr1:201041537 [GRCh38]
Chr1:201010665 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.1828G>T (p.Val610Leu) |
single nucleotide variant |
Congenital myopathy 18 [RCV003458812]|Hypokalemic periodic paralysis, type 1 [RCV001974172]|Hypokalemic periodic paralysis, type 1 [RCV002484904]|Hypokalemic periodic paralysis, type 1 [RCV003453912]|Inborn genetic diseases [RCV002573485]|Malignant hyperthermia, susceptibility to, 5 [RCV003453913]|Thyrotoxic periodic paralysis, susceptibility to, 1 [RCV003453914] |
Chr1:201075615 [GRCh38]
Chr1:201044743 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.2022G>C (p.Gln674His) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV001879043] |
Chr1:201074547 [GRCh38]
Chr1:201043675 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.1106G>T (p.Trp369Leu) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV001896994] |
Chr1:201085480 [GRCh38]
Chr1:201054608 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.5335T>G (p.Cys1779Gly) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV001899609] |
Chr1:201040266 [GRCh38]
Chr1:201009394 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.1957C>T (p.Leu653Phe) |
single nucleotide variant |
Congenital myopathy 18 [RCV003458780]|Hypokalemic periodic paralysis, type 1 [RCV001879216]|Hypokalemic periodic paralysis, type 1 [RCV002490066]|Hypokalemic periodic paralysis, type 1 [RCV003452040]|Malignant hyperthermia, susceptibility to, 5 [RCV003452041]|Thyrotoxic periodic paralysis, susceptibility to, 1 [RCV003452042] |
Chr1:201074612 [GRCh38]
Chr1:201043740 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.1045A>G (p.Thr349Ala) |
single nucleotide variant |
Congenital myopathy 18 [RCV003458795]|Hypokalemic periodic paralysis, type 1 [RCV001971923]|Hypokalemic periodic paralysis, type 1 [RCV003452191]|Malignant hyperthermia, susceptibility to, 5 [RCV003452192]|Thyrotoxic periodic paralysis, susceptibility to, 1 [RCV003452193]|not provided [RCV003442966] |
Chr1:201085541 [GRCh38]
Chr1:201054669 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.1204G>T (p.Ala402Ser) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV001903346]|Hypokalemic periodic paralysis, type 1 [RCV002478296]|not provided [RCV003314707] |
Chr1:201084978 [GRCh38]
Chr1:201054106 [GRCh37]
Chr1:1q32.1 |
benign|uncertain significance |
| NM_000069.3(CACNA1S):c.5248A>C (p.Met1750Leu) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV002013537] |
Chr1:201040353 [GRCh38]
Chr1:201009481 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.1508T>C (p.Val503Ala) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV002046147] |
Chr1:201077990 [GRCh38]
Chr1:201047118 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.3795+10G>A |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV001956664] |
Chr1:201053449 [GRCh38]
Chr1:201022577 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.5510A>G (p.Glu1837Gly) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV001936086] |
Chr1:201039943 [GRCh38]
Chr1:201009071 [GRCh37]
Chr1:1q32.1 |
likely benign|uncertain significance |
| NM_000069.3(CACNA1S):c.836G>A (p.Gly279Asp) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV001991765] |
Chr1:201089322 [GRCh38]
Chr1:201058450 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.160G>C (p.Glu54Gln) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV002012493] |
Chr1:201110262 [GRCh38]
Chr1:201079390 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.4858C>G (p.Pro1620Ala) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV001922803] |
Chr1:201043471 [GRCh38]
Chr1:201012599 [GRCh37]
Chr1:1q32.1 |
benign|uncertain significance |
| NM_000069.3(CACNA1S):c.2228-9T>C |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV002027714] |
Chr1:201070413 [GRCh38]
Chr1:201039541 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.5229C>A (p.Cys1743Ter) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV001993393] |
Chr1:201040372 [GRCh38]
Chr1:201009500 [GRCh37]
Chr1:1q32.1 |
pathogenic |
| NM_000069.3(CACNA1S):c.2089G>A (p.Glu697Lys) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV001952713] |
Chr1:201073617 [GRCh38]
Chr1:201042745 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.3262T>C (p.Cys1088Arg) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV002047831] |
Chr1:201060810 [GRCh38]
Chr1:201029938 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.2482A>G (p.Arg828Gly) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV001866951] |
Chr1:201069480 [GRCh38]
Chr1:201038608 [GRCh37]
Chr1:1q32.1 |
benign|uncertain significance |
| NM_000069.3(CACNA1S):c.4461C>A (p.Asn1487Lys) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV001920206] |
Chr1:201047607 [GRCh38]
Chr1:201016735 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.2047C>A (p.Arg683Ser) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV002028046] |
Chr1:201074522 [GRCh38]
Chr1:201043650 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.2145C>T (p.Pro715=) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV001960820] |
Chr1:201073561 [GRCh38]
Chr1:201042689 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.85C>G (p.Arg29Gly) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV002046700] |
Chr1:201112255 [GRCh38]
Chr1:201081383 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.140T>C (p.Ile47Thr) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV001899114] |
Chr1:201112200 [GRCh38]
Chr1:201081328 [GRCh37]
Chr1:1q32.1 |
likely benign|uncertain significance |
| NM_000069.3(CACNA1S):c.4760C>A (p.Ala1587Asp) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV001931288] |
Chr1:201044365 [GRCh38]
Chr1:201013493 [GRCh37]
Chr1:1q32.1 |
likely benign|uncertain significance |
| NM_000069.3(CACNA1S):c.1151G>A (p.Gly384Glu) |
single nucleotide variant |
Congenital myopathy 18 [RCV003458815]|Hypokalemic periodic paralysis, type 1 [RCV002013044]|Hypokalemic periodic paralysis, type 1 [RCV002492312]|Hypokalemic periodic paralysis, type 1 [RCV003453945]|Inborn genetic diseases [RCV002642096]|Malignant hyperthermia, susceptibility to, 5 [RCV003453946]|Thyrotoxic periodic paralysis, susceptibility to, 1 [RCV003453947] |
Chr1:201085031 [GRCh38]
Chr1:201054159 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.1045A>T (p.Thr349Ser) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV001938510] |
Chr1:201085541 [GRCh38]
Chr1:201054669 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.343G>A (p.Asp115Asn) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV002018291] |
Chr1:201093937 [GRCh38]
Chr1:201063065 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.1171G>A (p.Gly391Ser) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV001989997] |
Chr1:201085011 [GRCh38]
Chr1:201054139 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.1721C>T (p.Ala574Val) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV001973009] |
Chr1:201077026 [GRCh38]
Chr1:201046154 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.2324_2330del (p.Glu775fs) |
deletion |
Hypokalemic periodic paralysis, type 1 [RCV001994844] |
Chr1:201070302..201070308 [GRCh38]
Chr1:201039430..201039436 [GRCh37]
Chr1:1q32.1 |
pathogenic |
| NM_000069.3(CACNA1S):c.4173G>A (p.Trp1391Ter) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV001981869] |
Chr1:201050457 [GRCh38]
Chr1:201019585 [GRCh37]
Chr1:1q32.1 |
pathogenic |
| NM_000069.3(CACNA1S):c.4171T>A (p.Trp1391Arg) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV002011988] |
Chr1:201050459 [GRCh38]
Chr1:201019587 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.5572C>T (p.Leu1858Phe) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV002027248] |
Chr1:201039881 [GRCh38]
Chr1:201009009 [GRCh37]
Chr1:1q32.1 |
likely benign|uncertain significance |
| NM_000069.3(CACNA1S):c.284T>C (p.Ile95Thr) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV001957912] |
Chr1:201093996 [GRCh38]
Chr1:201063124 [GRCh37]
Chr1:1q32.1 |
benign|uncertain significance |
| NM_000069.3(CACNA1S):c.4255C>T (p.His1419Tyr) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV001905307] |
Chr1:201049086 [GRCh38]
Chr1:201018214 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.2839G>C (p.Val947Leu) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV001952103] |
Chr1:201065852 [GRCh38]
Chr1:201034980 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.3700T>A (p.Phe1234Ile) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV001952122] |
Chr1:201053554 [GRCh38]
Chr1:201022682 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.1819G>A (p.Val607Ile) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV002029875] |
Chr1:201076928 [GRCh38]
Chr1:201046056 [GRCh37]
Chr1:1q32.1 |
likely benign|uncertain significance |
| NM_000069.3(CACNA1S):c.2708G>A (p.Arg903Gln) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV001958009] |
Chr1:201066266 [GRCh38]
Chr1:201035394 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.2962C>T (p.Arg988Cys) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV001938673] |
Chr1:201062035 [GRCh38]
Chr1:201031163 [GRCh37]
Chr1:1q32.1 |
likely benign|uncertain significance |
| NM_000069.3(CACNA1S):c.5583C>G (p.His1861Gln) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV001952398] |
Chr1:201039870 [GRCh38]
Chr1:201008998 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.5049-6T>C |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV001957182] |
Chr1:201041595 [GRCh38]
Chr1:201010723 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.5279G>C (p.Gly1760Ala) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV001998594] |
Chr1:201040322 [GRCh38]
Chr1:201009450 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.5575G>A (p.Asp1859Asn) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV002019206]|Hypokalemic periodic paralysis, type 1 [RCV002497997] |
Chr1:201039878 [GRCh38]
Chr1:201009006 [GRCh37]
Chr1:1q32.1 |
likely benign|uncertain significance |
| NM_000069.3(CACNA1S):c.169A>G (p.Ile57Val) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV001886111] |
Chr1:201110253 [GRCh38]
Chr1:201079381 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.2773A>G (p.Ile925Val) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV001877178]|Hypokalemic periodic paralysis, type 1 [RCV002478184]|Inborn genetic diseases [RCV002551094] |
Chr1:201065918 [GRCh38]
Chr1:201035046 [GRCh37]
Chr1:1q32.1 |
likely benign|uncertain significance |
| NM_000069.3(CACNA1S):c.4618C>G (p.Gln1540Glu) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV002036527] |
Chr1:201047165 [GRCh38]
Chr1:201016293 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.2791A>G (p.Ile931Val) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV001923168] |
Chr1:201065900 [GRCh38]
Chr1:201035028 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.2063+1G>A |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV002034158]|not provided [RCV003491021] |
Chr1:201074505 [GRCh38]
Chr1:201043633 [GRCh37]
Chr1:1q32.1 |
likely pathogenic |
| NM_000069.3(CACNA1S):c.2519C>T (p.Thr840Ile) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV001882062] |
Chr1:201069168 [GRCh38]
Chr1:201038296 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.4436C>T (p.Thr1479Met) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV002047777] |
Chr1:201048587 [GRCh38]
Chr1:201017715 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.826G>A (p.Asp276Asn) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV001935612]|not provided [RCV003490939] |
Chr1:201089332 [GRCh38]
Chr1:201058460 [GRCh37]
Chr1:1q32.1 |
likely benign|uncertain significance |
| NM_000069.3(CACNA1S):c.239A>G (p.Asn80Ser) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV001903409] |
Chr1:201110183 [GRCh38]
Chr1:201079311 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.2418G>C (p.Leu806=) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV001958683] |
Chr1:201069544 [GRCh38]
Chr1:201038672 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.3525+19G>A |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV001938518] |
Chr1:201059170 [GRCh38]
Chr1:201028298 [GRCh37]
Chr1:1q32.1 |
likely benign|uncertain significance |
| NM_000069.3(CACNA1S):c.5437G>A (p.Ala1813Thr) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV001884012] |
Chr1:201040016 [GRCh38]
Chr1:201009144 [GRCh37]
Chr1:1q32.1 |
likely benign|uncertain significance |
| NM_000069.3(CACNA1S):c.3678G>C (p.Glu1226Asp) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV001938672] |
Chr1:201053576 [GRCh38]
Chr1:201022704 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.1478T>C (p.Met493Thr) |
single nucleotide variant |
Congenital myopathy 18 [RCV003458789]|Hypokalemic periodic paralysis, type 1 [RCV001884523]|Hypokalemic periodic paralysis, type 1 [RCV003452075]|Long QT syndrome [RCV003318406]|Malignant hyperthermia, susceptibility to, 5 [RCV003452076]|Thyrotoxic periodic paralysis, susceptibility to, 1 [RCV003452077] |
Chr1:201078020 [GRCh38]
Chr1:201047148 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.5387G>A (p.Gly1796Asp) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV001884847] |
Chr1:201040066 [GRCh38]
Chr1:201009194 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.663G>C (p.Lys221Asn) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV001982067] |
Chr1:201091671 [GRCh38]
Chr1:201060799 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.586C>T (p.Leu196Phe) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV002046966] |
Chr1:201091748 [GRCh38]
Chr1:201060876 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.2090A>T (p.Glu697Val) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV001885496] |
Chr1:201073616 [GRCh38]
Chr1:201042744 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NC_000001.10:g.(?_201012389)_(201013604_?)del |
deletion |
Hypokalemic periodic paralysis, type 1 [RCV001960676] |
Chr1:201012389..201013604 [GRCh37]
Chr1:1q32.1 |
pathogenic |
| NM_000069.3(CACNA1S):c.1778G>A (p.Arg593Gln) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV001978602]|Hypokalemic periodic paralysis, type 1 [RCV002497977]|Inborn genetic diseases [RCV002592635] |
Chr1:201076969 [GRCh38]
Chr1:201046097 [GRCh37]
Chr1:1q32.1 |
benign|uncertain significance |
| NM_000069.3(CACNA1S):c.327CTT[1] (p.Phe110del) |
microsatellite |
Hypokalemic periodic paralysis, type 1 [RCV001902701] |
Chr1:201093948..201093950 [GRCh38]
Chr1:201063076..201063078 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.3204C>G (p.Phe1068Leu) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV001918683] |
Chr1:201061318 [GRCh38]
Chr1:201030446 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.1531A>C (p.Ile511Leu) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV001992037]|not provided [RCV003491002] |
Chr1:201077967 [GRCh38]
Chr1:201047095 [GRCh37]
Chr1:1q32.1 |
likely benign|uncertain significance |
| NM_000069.3(CACNA1S):c.5102G>C (p.Gly1701Ala) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV001879423] |
Chr1:201041536 [GRCh38]
Chr1:201010664 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.4039G>C (p.Gly1347Arg) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV001958338] |
Chr1:201051058 [GRCh38]
Chr1:201020186 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.884C>A (p.Thr295Asn) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV001930555] |
Chr1:201089274 [GRCh38]
Chr1:201058402 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.2853+18C>T |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV001917060]|Hypokalemic periodic paralysis, type 1 [RCV002484561] |
Chr1:201065820 [GRCh38]
Chr1:201034948 [GRCh37]
Chr1:1q32.1 |
likely benign|uncertain significance |
| NM_000069.3(CACNA1S):c.2775C>T (p.Ile925=) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV001899255] |
Chr1:201065916 [GRCh38]
Chr1:201035044 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.78del (p.Arg26fs) |
deletion |
Hypokalemic periodic paralysis, type 1 [RCV001870004] |
Chr1:201112262 [GRCh38]
Chr1:201081390 [GRCh37]
Chr1:1q32.1 |
pathogenic |
| NM_000069.3(CACNA1S):c.258+4A>G |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV001920822] |
Chr1:201110160 [GRCh38]
Chr1:201079288 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.1905G>A (p.Met635Ile) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV001996493] |
Chr1:201075538 [GRCh38]
Chr1:201044666 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.4600C>T (p.Arg1534Trp) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV002011998] |
Chr1:201047183 [GRCh38]
Chr1:201016311 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.3010A>T (p.Met1004Leu) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV001880606] |
Chr1:201061987 [GRCh38]
Chr1:201031115 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.2195T>A (p.Val732Glu) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV001882064] |
Chr1:201072787 [GRCh38]
Chr1:201041915 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.1093G>A (p.Gly365Ser) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV001866738] |
Chr1:201085493 [GRCh38]
Chr1:201054621 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.4796G>A (p.Arg1599Gln) |
single nucleotide variant |
Congenital myopathy 18 [RCV003458797]|Hypokalemic periodic paralysis, type 1 [RCV001955215]|Hypokalemic periodic paralysis, type 1 [RCV002484662]|Hypokalemic periodic paralysis, type 1 [RCV003456264]|Malignant hyperthermia, susceptibility to, 5 [RCV003452208]|Thyrotoxic periodic paralysis, susceptibility to, 1 [RCV003456265] |
Chr1:201044329 [GRCh38]
Chr1:201013457 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.4210del (p.Ala1404fs) |
deletion |
Hypokalemic periodic paralysis, type 1 [RCV001958604] |
Chr1:201050420 [GRCh38]
Chr1:201019548 [GRCh37]
Chr1:1q32.1 |
pathogenic |
| NM_000069.3(CACNA1S):c.3888T>C (p.Asp1296=) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV002105019] |
Chr1:201052622 [GRCh38]
Chr1:201021750 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.3610-5C>T |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV002190131] |
Chr1:201054566 [GRCh38]
Chr1:201023694 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.3609+10A>G |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV002187827] |
Chr1:201058398 [GRCh38]
Chr1:201027526 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.3672A>G (p.Pro1224=) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV002147144] |
Chr1:201053582 [GRCh38]
Chr1:201022710 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.3540C>T (p.Asp1180=) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV002187898] |
Chr1:201058477 [GRCh38]
Chr1:201027605 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.5016C>T (p.Asn1672=) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV002147206] |
Chr1:201043313 [GRCh38]
Chr1:201012441 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.1750A>C (p.Arg584=) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV002126699] |
Chr1:201076997 [GRCh38]
Chr1:201046125 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.541+18T>A |
single nucleotide variant |
Congenital myopathy 18 [RCV003447031]|Hypokalemic periodic paralysis, type 1 [RCV002126815]|Hypokalemic periodic paralysis, type 1 [RCV002479910]|Hypokalemic periodic paralysis, type 1 [RCV003447028]|Malignant hyperthermia, susceptibility to, 5 [RCV003447029]|Thyrotoxic periodic paralysis, susceptibility to, 1 [RCV003447030] |
Chr1:201091954 [GRCh38]
Chr1:201061082 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.3096T>A (p.Gly1032=) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV002207237] |
Chr1:201061426 [GRCh38]
Chr1:201030554 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.2511C>T (p.Ile837=) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV002145844] |
Chr1:201069176 [GRCh38]
Chr1:201038304 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.4197G>T (p.Leu1399=) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV002205300] |
Chr1:201050433 [GRCh38]
Chr1:201019561 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.1959C>T (p.Leu653=) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV002107886] |
Chr1:201074610 [GRCh38]
Chr1:201043738 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.695-14C>T |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV002072487] |
Chr1:201089477 [GRCh38]
Chr1:201058605 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.5082A>G (p.Thr1694=) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV002209446] |
Chr1:201041556 [GRCh38]
Chr1:201010684 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.2862C>T (p.Phe954=) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV002168984] |
Chr1:201062506 [GRCh38]
Chr1:201031634 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.542-9C>T |
single nucleotide variant |
Congenital myopathy 18 [RCV003447027]|Hypokalemic periodic paralysis, type 1 [RCV002107648]|Hypokalemic periodic paralysis, type 1 [RCV002479905]|Hypokalemic periodic paralysis, type 1 [RCV003447024]|Malignant hyperthermia, susceptibility to, 5 [RCV003447025]|Thyrotoxic periodic paralysis, susceptibility to, 1 [RCV003447026] |
Chr1:201091801 [GRCh38]
Chr1:201060929 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.259-14G>A |
single nucleotide variant |
Congenital myopathy 18 [RCV003446995]|Hypokalemic periodic paralysis, type 1 [RCV002169565]|Hypokalemic periodic paralysis, type 1 [RCV002486809]|Hypokalemic periodic paralysis, type 1 [RCV003446992]|Malignant hyperthermia, susceptibility to, 5 [RCV003446993]|Thyrotoxic periodic paralysis, susceptibility to, 1 [RCV003446994] |
Chr1:201094035 [GRCh38]
Chr1:201063163 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.5441T>C (p.Leu1814Pro) |
single nucleotide variant |
not provided [RCV002224808] |
Chr1:201040012 [GRCh38]
Chr1:201009140 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.2853+16C>T |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV002188408] |
Chr1:201065822 [GRCh38]
Chr1:201034950 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.1619+16G>A |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV002073533] |
Chr1:201077863 [GRCh38]
Chr1:201046991 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.901-10T>C |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV002149248] |
Chr1:201087939 [GRCh38]
Chr1:201057067 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.4339-15C>T |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV002125755] |
Chr1:201048699 [GRCh38]
Chr1:201017827 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.2227+10C>T |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV002075949] |
Chr1:201072745 [GRCh38]
Chr1:201041873 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.1150+14G>A |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV002090234] |
Chr1:201085422 [GRCh38]
Chr1:201054550 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.3690C>T (p.Ile1230=) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV002076003] |
Chr1:201053564 [GRCh38]
Chr1:201022692 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.3852C>T (p.Ile1284=) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV002170021]|Malignant hyperthermia, susceptibility to, 5 [RCV003517353]|not provided [RCV003886554] |
Chr1:201053218 [GRCh38]
Chr1:201022346 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.1954C>T (p.Leu652=) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV002109032] |
Chr1:201074615 [GRCh38]
Chr1:201043743 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.1619+15C>A |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV002167104] |
Chr1:201077864 [GRCh38]
Chr1:201046992 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.5094T>C (p.Ala1698=) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV002111433] |
Chr1:201041544 [GRCh38]
Chr1:201010672 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.694+10del |
deletion |
Hypokalemic periodic paralysis, type 1 [RCV002144907] |
Chr1:201091630 [GRCh38]
Chr1:201060758 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.542-4G>A |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV002186892] |
Chr1:201091796 [GRCh38]
Chr1:201060924 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.2158-14G>A |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV002144722] |
Chr1:201072838 [GRCh38]
Chr1:201041966 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.321C>T (p.Ala107=) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV002111203] |
Chr1:201093959 [GRCh38]
Chr1:201063087 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.3953+18C>T |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV002129136] |
Chr1:201052539 [GRCh38]
Chr1:201021667 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.4441+9G>A |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV002146376] |
Chr1:201048573 [GRCh38]
Chr1:201017701 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.3526-7T>G |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV002090041] |
Chr1:201058498 [GRCh38]
Chr1:201027626 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.4543+15G>A |
single nucleotide variant |
Congenital myopathy 18 [RCV003447019]|Hypokalemic periodic paralysis, type 1 [RCV002105002]|Hypokalemic periodic paralysis, type 1 [RCV002494210]|Hypokalemic periodic paralysis, type 1 [RCV003447016]|Malignant hyperthermia, susceptibility to, 5 [RCV003447017]|Thyrotoxic periodic paralysis, susceptibility to, 1 [RCV003447018] |
Chr1:201047510 [GRCh38]
Chr1:201016638 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.901-19A>G |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV002086284] |
Chr1:201087948 [GRCh38]
Chr1:201057076 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.3666+14G>T |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV002205688] |
Chr1:201054491 [GRCh38]
Chr1:201023619 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.3348C>T (p.Thr1116=) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV002215950] |
Chr1:201060724 [GRCh38]
Chr1:201029852 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.3425A>G (p.Gln1142Arg) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV002195722] |
Chr1:201059289 [GRCh38]
Chr1:201028417 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.2325A>G (p.Glu775=) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV002216384] |
Chr1:201070307 [GRCh38]
Chr1:201039435 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.3054-6C>T |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV002186769]|Malignant hyperthermia, susceptibility to, 5 [RCV003517354] |
Chr1:201061474 [GRCh38]
Chr1:201030602 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.4857C>G (p.Pro1619=) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV002206119] |
Chr1:201043472 [GRCh38]
Chr1:201012600 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.2695C>T (p.Leu899=) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV002196663] |
Chr1:201066279 [GRCh38]
Chr1:201035407 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.534G>A (p.Gly178=) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV002205261] |
Chr1:201091979 [GRCh38]
Chr1:201061107 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.4767G>A (p.Val1589=) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV002093639] |
Chr1:201044358 [GRCh38]
Chr1:201013486 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.2046A>G (p.Lys682=) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV002078136] |
Chr1:201074523 [GRCh38]
Chr1:201043651 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.2746-17_2746-14dup |
duplication |
Hypokalemic periodic paralysis, type 1 [RCV002171528] |
Chr1:201065958..201065959 [GRCh38]
Chr1:201035086..201035087 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.4266G>A (p.Val1422=) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV002130781] |
Chr1:201049075 [GRCh38]
Chr1:201018203 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.1393+11A>G |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV002091829] |
Chr1:201083151 [GRCh38]
Chr1:201052279 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.831C>T (p.Asn277=) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV002075423] |
Chr1:201089327 [GRCh38]
Chr1:201058455 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.2491-20C>T |
single nucleotide variant |
Congenital myopathy 18 [RCV003447051]|Hypokalemic periodic paralysis, type 1 [RCV002125324]|Hypokalemic periodic paralysis, type 1 [RCV002486939]|Hypokalemic periodic paralysis, type 1 [RCV003447048]|Malignant hyperthermia, susceptibility to, 5 [RCV003447049]|Thyrotoxic periodic paralysis, susceptibility to, 1 [RCV003447050] |
Chr1:201069216 [GRCh38]
Chr1:201038344 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.1536G>T (p.Leu512=) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV002212797] |
Chr1:201077962 [GRCh38]
Chr1:201047090 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.2745+11G>T |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV002193978] |
Chr1:201066218 [GRCh38]
Chr1:201035346 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.4797+16G>A |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV002194005] |
Chr1:201044312 [GRCh38]
Chr1:201013440 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.216G>C (p.Leu72=) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV002095836] |
Chr1:201110206 [GRCh38]
Chr1:201079334 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.2658-5C>T |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV002081029] |
Chr1:201066321 [GRCh38]
Chr1:201035449 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.3786G>A (p.Lys1262=) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV002133030] |
Chr1:201053468 [GRCh38]
Chr1:201022596 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.3453C>T (p.Asp1151=) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV002193958] |
Chr1:201059261 [GRCh38]
Chr1:201028389 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.564C>T (p.Ser188=) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV002110022] |
Chr1:201091770 [GRCh38]
Chr1:201060898 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.5340A>G (p.Ser1780=) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV002187666] |
Chr1:201040261 [GRCh38]
Chr1:201009389 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.3609+12G>A |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV002148846] |
Chr1:201058396 [GRCh38]
Chr1:201027524 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.3636G>A (p.Leu1212=) |
single nucleotide variant |
Congenital myopathy 18 [RCV003458830]|Hypokalemic periodic paralysis, type 1 [RCV002116892]|Hypokalemic periodic paralysis, type 1 [RCV002507971]|Hypokalemic periodic paralysis, type 1 [RCV003454006]|Malignant hyperthermia, susceptibility to, 5 [RCV003456278]|Thyrotoxic periodic paralysis, susceptibility to, 1 [RCV003456279] |
Chr1:201054535 [GRCh38]
Chr1:201023663 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.901-16C>A |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV002110319] |
Chr1:201087945 [GRCh38]
Chr1:201057073 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.3885G>A (p.Val1295=) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV002151065] |
Chr1:201052625 [GRCh38]
Chr1:201021753 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.3771G>A (p.Leu1257=) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV002085806] |
Chr1:201053483 [GRCh38]
Chr1:201022611 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.900+16C>T |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV002115410] |
Chr1:201089242 [GRCh38]
Chr1:201058370 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.4620A>G (p.Gln1540=) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV002195655] |
Chr1:201047163 [GRCh38]
Chr1:201016291 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.2385C>T (p.Ile795=) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV002096435] |
Chr1:201069577 [GRCh38]
Chr1:201038705 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.3414+10C>T |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV002078074] |
Chr1:201060648 [GRCh38]
Chr1:201029776 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.5556G>A (p.Gly1852=) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV002095288] |
Chr1:201039897 [GRCh38]
Chr1:201009025 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.3447C>T (p.Ile1149=) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV002106453] |
Chr1:201059267 [GRCh38]
Chr1:201028395 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.2631C>T (p.Ala877=) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV002151655] |
Chr1:201066913 [GRCh38]
Chr1:201036041 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.3796-19G>A |
single nucleotide variant |
Congenital myopathy 18 [RCV003447003]|Hypokalemic periodic paralysis, type 1 [RCV002170360]|Hypokalemic periodic paralysis, type 1 [RCV002498139]|Hypokalemic periodic paralysis, type 1 [RCV003447000]|Malignant hyperthermia, susceptibility to, 5 [RCV003447001]|Thyrotoxic periodic paralysis, susceptibility to, 1 [RCV003447002] |
Chr1:201053293 [GRCh38]
Chr1:201022421 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.2063+10del |
deletion |
Hypokalemic periodic paralysis, type 1 [RCV002167373] |
Chr1:201074496 [GRCh38]
Chr1:201043624 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.1119C>A (p.Gly373=) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV002133343] |
Chr1:201085467 [GRCh38]
Chr1:201054595 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.5370+13C>T |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV002170508] |
Chr1:201040218 [GRCh38]
Chr1:201009346 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.408C>T (p.Thr136=) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV002096095] |
Chr1:201092105 [GRCh38]
Chr1:201061233 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.1194G>A (p.Leu398=) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV002211939] |
Chr1:201084988 [GRCh38]
Chr1:201054116 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.695-13C>A |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV002166043] |
Chr1:201089476 [GRCh38]
Chr1:201058604 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.1005-19C>G |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV002149410] |
Chr1:201085600 [GRCh38]
Chr1:201054728 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.900+17G>A |
single nucleotide variant |
Congenital myopathy 18 [RCV003446999]|Hypokalemic periodic paralysis, type 1 [RCV002172045]|Hypokalemic periodic paralysis, type 1 [RCV002498128]|Hypokalemic periodic paralysis, type 1 [RCV003446996]|Malignant hyperthermia, susceptibility to, 5 [RCV003446997]|Thyrotoxic periodic paralysis, susceptibility to, 1 [RCV003446998] |
Chr1:201089241 [GRCh38]
Chr1:201058369 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.2550+17G>A |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV002132071] |
Chr1:201069120 [GRCh38]
Chr1:201038248 [GRCh37]
Chr1:1q32.1 |
benign |
| NM_000069.3(CACNA1S):c.1347C>T (p.Ile449=) |
single nucleotide variant |
Congenital myopathy 18 [RCV003458839]|Hypokalemic periodic paralysis, type 1 [RCV002106194]|Hypokalemic periodic paralysis, type 1 [RCV002500166]|Hypokalemic periodic paralysis, type 1 [RCV003454013]|Malignant hyperthermia, susceptibility to, 5 [RCV003454014]|Thyrotoxic periodic paralysis, susceptibility to, 1 [RCV003454015] |
Chr1:201083208 [GRCh38]
Chr1:201052336 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.2063+19G>A |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV002215622] |
Chr1:201074487 [GRCh38]
Chr1:201043615 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.5118A>G (p.Gln1706=) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV002211696] |
Chr1:201041520 [GRCh38]
Chr1:201010648 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.4011G>A (p.Leu1337=) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV002213507] |
Chr1:201051086 [GRCh38]
Chr1:201020214 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.4413C>T (p.Val1471=) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV002195725] |
Chr1:201048610 [GRCh38]
Chr1:201017738 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.900+15del |
deletion |
Hypokalemic periodic paralysis, type 1 [RCV002153104] |
Chr1:201089243 [GRCh38]
Chr1:201058371 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.1150+9C>T |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV002114245] |
Chr1:201085427 [GRCh38]
Chr1:201054555 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.1044A>G (p.Gly348=) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV002116810] |
Chr1:201085542 [GRCh38]
Chr1:201054670 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.4593G>A (p.Glu1531=) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV002095130] |
Chr1:201047190 [GRCh38]
Chr1:201016318 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.3610-17G>A |
single nucleotide variant |
Congenital myopathy 18 [RCV003447015]|Hypokalemic periodic paralysis, type 1 [RCV002104890]|Hypokalemic periodic paralysis, type 1 [RCV002479900]|Hypokalemic periodic paralysis, type 1 [RCV003447012]|Malignant hyperthermia, susceptibility to, 5 [RCV003447013]|Thyrotoxic periodic paralysis, susceptibility to, 1 [RCV003447014] |
Chr1:201054578 [GRCh38]
Chr1:201023706 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.3610-18C>T |
single nucleotide variant |
Congenital myopathy 18 [RCV003446991]|Hypokalemic periodic paralysis, type 1 [RCV002078020]|Hypokalemic periodic paralysis, type 1 [RCV002507858]|Hypokalemic periodic paralysis, type 1 [RCV003446988]|Malignant hyperthermia, susceptibility to, 5 [RCV003446989]|Thyrotoxic periodic paralysis, susceptibility to, 1 [RCV003446990] |
Chr1:201054579 [GRCh38]
Chr1:201023707 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.2064-20C>T |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV002103759] |
Chr1:201073662 [GRCh38]
Chr1:201042790 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.4449T>C (p.Phe1483=) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV002117743] |
Chr1:201047619 [GRCh38]
Chr1:201016747 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.4113+19G>C |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV002141498] |
Chr1:201050965 [GRCh38]
Chr1:201020093 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.2895G>A (p.Glu965=) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV002101057] |
Chr1:201062473 [GRCh38]
Chr1:201031601 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.5399_5400inv (p.Leu1800Ser) |
inversion |
Hypokalemic periodic paralysis, type 1 [RCV002103980] |
Chr1:201040053..201040054 [GRCh38]
Chr1:201009181..201009182 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.297T>C (p.Ile99=) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV002159898] |
Chr1:201093983 [GRCh38]
Chr1:201063111 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.3237T>C (p.Cys1079=) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV002216732] |
Chr1:201061285 [GRCh38]
Chr1:201030413 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.768C>T (p.Ile256=) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV002158048] |
Chr1:201089390 [GRCh38]
Chr1:201058518 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.735C>T (p.Cys245=) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV002142958] |
Chr1:201089423 [GRCh38]
Chr1:201058551 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.542-17C>T |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV002137770] |
Chr1:201091809 [GRCh38]
Chr1:201060937 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.609C>T (p.Val203=) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV002183245] |
Chr1:201091725 [GRCh38]
Chr1:201060853 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.3126C>A (p.Ala1042=) |
single nucleotide variant |
CACNA1S-related condition [RCV003951007]|Hypokalemic periodic paralysis, type 1 [RCV002083893] |
Chr1:201061396 [GRCh38]
Chr1:201030524 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.2854-4G>A |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV002198347] |
Chr1:201062518 [GRCh38]
Chr1:201031646 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.1233-15T>C |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV002119971] |
Chr1:201083337 [GRCh38]
Chr1:201052465 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.3729G>A (p.Leu1243=) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV002120374] |
Chr1:201053525 [GRCh38]
Chr1:201022653 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.3943C>T (p.Leu1315=) |
single nucleotide variant |
Congenital myopathy 18 [RCV003458825]|Hypokalemic periodic paralysis, type 1 [RCV002202512]|Hypokalemic periodic paralysis, type 1 [RCV002494098]|Hypokalemic periodic paralysis, type 1 [RCV003453994]|Malignant hyperthermia, susceptibility to, 5 [RCV003453995]|Thyrotoxic periodic paralysis, susceptibility to, 1 [RCV003453996] |
Chr1:201052567 [GRCh38]
Chr1:201021695 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.2854-15T>G |
single nucleotide variant |
Congenital myopathy 18 [RCV003447043]|Hypokalemic periodic paralysis, type 1 [RCV002099002]|Hypokalemic periodic paralysis, type 1 [RCV002508067]|Hypokalemic periodic paralysis, type 1 [RCV003447040]|Malignant hyperthermia, susceptibility to, 5 [RCV003447041]|Thyrotoxic periodic paralysis, susceptibility to, 1 [RCV003447042] |
Chr1:201062529 [GRCh38]
Chr1:201031657 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.3862-18G>A |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV002204774] |
Chr1:201052666 [GRCh38]
Chr1:201021794 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.762C>T (p.Cys254=) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV002164225] |
Chr1:201089396 [GRCh38]
Chr1:201058524 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.1233-4T>A |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV002103094] |
Chr1:201083326 [GRCh38]
Chr1:201052454 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.978C>T (p.Leu326=) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV002159080] |
Chr1:201087852 [GRCh38]
Chr1:201056980 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.951C>A (p.Leu317=) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV002164573] |
Chr1:201087879 [GRCh38]
Chr1:201057007 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.648G>A (p.Glu216=) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV002122602] |
Chr1:201091686 [GRCh38]
Chr1:201060814 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.4883T>C (p.Leu1628Pro) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV002176965]|not provided [RCV003149015] |
Chr1:201043446 [GRCh38]
Chr1:201012574 [GRCh37]
Chr1:1q32.1 |
likely benign|uncertain significance |
| NM_000069.3(CACNA1S):c.1062G>A (p.Arg354=) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV002220179] |
Chr1:201085524 [GRCh38]
Chr1:201054652 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.1151-13C>A |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV002160788] |
Chr1:201085044 [GRCh38]
Chr1:201054172 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.3666+18G>A |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV002083175] |
Chr1:201054487 [GRCh38]
Chr1:201023615 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.1004+20C>A |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV002144189] |
Chr1:201087806 [GRCh38]
Chr1:201056934 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.556C>T (p.Leu186=) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV002099890] |
Chr1:201091778 [GRCh38]
Chr1:201060906 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.3732C>A (p.Ile1244=) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV002099940] |
Chr1:201053522 [GRCh38]
Chr1:201022650 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.729G>A (p.Ser243=) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV002103310] |
Chr1:201089429 [GRCh38]
Chr1:201058557 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.1422C>T (p.Leu474=) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV002102013] |
Chr1:201078076 [GRCh38]
Chr1:201047204 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.1410G>A (p.Val470=) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV002103646] |
Chr1:201078088 [GRCh38]
Chr1:201047216 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.5135-14C>T |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV002184631] |
Chr1:201040727 [GRCh38]
Chr1:201009855 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.4023G>A (p.Glu1341=) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV002179394] |
Chr1:201051074 [GRCh38]
Chr1:201020202 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.4798-12C>T |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV002144634] |
Chr1:201043543 [GRCh38]
Chr1:201012671 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.1151-11C>T |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV002103956] |
Chr1:201085042 [GRCh38]
Chr1:201054170 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.4998C>T (p.Ala1666=) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV002083925] |
Chr1:201043331 [GRCh38]
Chr1:201012459 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.60T>A (p.Val20=) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV002157120] |
Chr1:201112280 [GRCh38]
Chr1:201081408 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.4275G>A (p.Leu1425=) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV002138932] |
Chr1:201049066 [GRCh38]
Chr1:201018194 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.3667-12G>A |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV002099946] |
Chr1:201053599 [GRCh38]
Chr1:201022727 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.3108C>T (p.Asn1036=) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV002179176] |
Chr1:201061414 [GRCh38]
Chr1:201030542 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.1818C>T (p.Ser606=) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV002203301] |
Chr1:201076929 [GRCh38]
Chr1:201046057 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.91T>C (p.Leu31=) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV002183088] |
Chr1:201112249 [GRCh38]
Chr1:201081377 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.3054-19C>A |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV002117640] |
Chr1:201061487 [GRCh38]
Chr1:201030615 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.2491-13G>A |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV002119850] |
Chr1:201069209 [GRCh38]
Chr1:201038337 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.3795+9G>C |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV002137565] |
Chr1:201053450 [GRCh38]
Chr1:201022578 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.4338+13G>T |
single nucleotide variant |
Congenital myopathy 18 [RCV003447011]|Hypokalemic periodic paralysis, type 1 [RCV002100338]|Hypokalemic periodic paralysis, type 1 [RCV002498330]|Hypokalemic periodic paralysis, type 1 [RCV003447008]|Malignant hyperthermia, susceptibility to, 5 [RCV003447009]|Thyrotoxic periodic paralysis, susceptibility to, 1 [RCV003447010] |
Chr1:201048990 [GRCh38]
Chr1:201018118 [GRCh37]
Chr1:1q32.1 |
benign|likely benign |
| NM_000069.3(CACNA1S):c.3861+14G>A |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV002156617] |
Chr1:201053195 [GRCh38]
Chr1:201022323 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.1254C>T (p.Asn418=) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV002219343] |
Chr1:201083301 [GRCh38]
Chr1:201052429 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.1614C>T (p.Ile538=) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV002160458] |
Chr1:201077884 [GRCh38]
Chr1:201047012 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.1656G>A (p.Leu552=) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV002124052] |
Chr1:201077091 [GRCh38]
Chr1:201046219 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.2688G>A (p.Leu896=) |
single nucleotide variant |
CACNA1S-related condition [RCV003973332]|Hypokalemic periodic paralysis, type 1 [RCV002203930] |
Chr1:201066286 [GRCh38]
Chr1:201035414 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.1151-18T>C |
single nucleotide variant |
Congenital myopathy 18 [RCV003445144]|Hypokalemic periodic paralysis, type 1 [RCV002203948]|Hypokalemic periodic paralysis, type 1 [RCV002486997]|Hypokalemic periodic paralysis, type 1 [RCV003445141]|Malignant hyperthermia, susceptibility to, 5 [RCV003445142]|Thyrotoxic periodic paralysis, susceptibility to, 1 [RCV003445143] |
Chr1:201085049 [GRCh38]
Chr1:201054177 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.3796-20C>T |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV002180010] |
Chr1:201053294 [GRCh38]
Chr1:201022422 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.331T>C (p.Leu111=) |
single nucleotide variant |
Congenital myopathy 18 [RCV003458846]|Hypokalemic periodic paralysis, type 1 [RCV002199239]|Hypokalemic periodic paralysis, type 1 [RCV002486999]|Hypokalemic periodic paralysis, type 1 [RCV003454034]|Malignant hyperthermia, susceptibility to, 5 [RCV003454035]|Thyrotoxic periodic paralysis, susceptibility to, 1 [RCV003454036] |
Chr1:201093949 [GRCh38]
Chr1:201063077 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.2259G>C (p.Pro753=) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV002121173] |
Chr1:201070373 [GRCh38]
Chr1:201039501 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.3526-13T>A |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV002101677] |
Chr1:201058504 [GRCh38]
Chr1:201027632 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.1948+11G>A |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV002122531] |
Chr1:201075484 [GRCh38]
Chr1:201044612 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.3666+17C>A |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV003110550] |
Chr1:201054488 [GRCh38]
Chr1:201023616 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.126G>A (p.Lys42=) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV003110660] |
Chr1:201112214 [GRCh38]
Chr1:201081342 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.5251C>T (p.Pro1751Ser) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV003110360] |
Chr1:201040350 [GRCh38]
Chr1:201009478 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NC_000001.10:g.(?_200522516)_(206945780_?)dup |
duplication |
Epilepsy, familial adult myoclonic, 5 [RCV003116306] |
Chr1:200522516..206945780 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.3221C>T (p.Thr1074Ile) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV003118228] |
Chr1:201061301 [GRCh38]
Chr1:201030429 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.1839G>A (p.Gly613=) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV003111905] |
Chr1:201075604 [GRCh38]
Chr1:201044732 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.4410G>C (p.Leu1470=) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV003112009] |
Chr1:201048613 [GRCh38]
Chr1:201017741 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.1829T>C (p.Val610Ala) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV003118077] |
Chr1:201075614 [GRCh38]
Chr1:201044742 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.3467C>A (p.Ala1156Asp) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV003116147] |
Chr1:201059247 [GRCh38]
Chr1:201028375 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.4509G>A (p.Met1503Ile) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV003117150] |
Chr1:201047559 [GRCh38]
Chr1:201016687 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.3794A>G (p.Gln1265Arg) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV003116261] |
Chr1:201053460 [GRCh38]
Chr1:201022588 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.1440G>A (p.Leu480=) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV003116262] |
Chr1:201078058 [GRCh38]
Chr1:201047186 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.5473G>A (p.Val1825Met) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV003115721] |
Chr1:201039980 [GRCh38]
Chr1:201009108 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.5312G>A (p.Ser1771Asn) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV003117924] |
Chr1:201040289 [GRCh38]
Chr1:201009417 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.4418C>T (p.Thr1473Met) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV003122249] |
Chr1:201048605 [GRCh38]
Chr1:201017733 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.1371_1373delinsGCA (p.Leu458His) |
indel |
Malignant hyperthermia, susceptibility to, 5 [RCV003517447]|not provided [RCV003120159] |
Chr1:201083182..201083184 [GRCh38]
Chr1:201052310..201052312 [GRCh37]
Chr1:1q32.1 |
benign |
| NM_000069.3(CACNA1S):c.2224C>T (p.Pro742Ser) |
single nucleotide variant |
Congenital myopathy 18 [RCV003222483]|not provided [RCV003120264] |
Chr1:201072758 [GRCh38]
Chr1:201041886 [GRCh37]
Chr1:1q32.1 |
pathogenic |
| NM_000069.3(CACNA1S):c.240C>G (p.Asn80Lys) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV003121429] |
Chr1:201110182 [GRCh38]
Chr1:201079310 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.3759G>T (p.Val1253=) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV003121489] |
Chr1:201053495 [GRCh38]
Chr1:201022623 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NC_000001.10:g.(?_201013436)_(201013604_?)del |
deletion |
Hypokalemic periodic paralysis, type 1 [RCV003119238] |
Chr1:201013436..201013604 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NC_000001.10:g.(?_200522516)_(208391267_?)dup |
duplication |
Hypokalemic periodic paralysis, type 1 [RCV003119239]|not provided [RCV003119240] |
Chr1:200522516..208391267 [GRCh37]
Chr1:1q32.1-32.2 |
uncertain significance|no classifications from unflagged records |
| NM_000069.3(CACNA1S):c.3440A>G (p.Asn1147Ser) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV003120083] |
Chr1:201059274 [GRCh38]
Chr1:201028402 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.81A>T (p.Pro27=) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV003121776] |
Chr1:201112259 [GRCh38]
Chr1:201081387 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.4453C>T (p.Gln1485Ter) |
single nucleotide variant |
Congenital myopathy 18 [RCV003152509] |
Chr1:201047615 [GRCh38]
Chr1:201016743 [GRCh37]
Chr1:1q32.1 |
pathogenic |
| NM_000069.3(CACNA1S):c.2371del (p.Leu791fs) |
deletion |
Congenital myopathy 18 [RCV003152511] |
Chr1:201069591 [GRCh38]
Chr1:201038719 [GRCh37]
Chr1:1q32.1 |
pathogenic |
| NM_000069.3(CACNA1S):c.2225C>A (p.Pro742Gln) |
single nucleotide variant |
Congenital myopathy 18 [RCV003152512] |
Chr1:201072757 [GRCh38]
Chr1:201041885 [GRCh37]
Chr1:1q32.1 |
pathogenic |
| CACNA1S, LEU1367VAL |
single nucleotide variant |
Myopathy, congenital, due to dihydropyridine receptor defect [RCV003152514] |
|
pathogenic |
| CACNA1S, MET222LYS |
variation |
Myopathy, congenital, due to dihydropyridine receptor defect [RCV003152515] |
|
pathogenic |
| NM_000069.3(CACNA1S):c.182del (p.Ile61fs) |
deletion |
Hypokalemic periodic paralysis, type 1 [RCV002288239] |
Chr1:201110240 [GRCh38]
Chr1:201079368 [GRCh37]
Chr1:1q32.1 |
likely pathogenic |
| NM_000069.3(CACNA1S):c.929C>G (p.Pro310Arg) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV002288240] |
Chr1:201087901 [GRCh38]
Chr1:201057029 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.3953+2C>G |
single nucleotide variant |
Malignant hyperthermia, susceptibility to, 5 [RCV002267679] |
Chr1:201052555 [GRCh38]
Chr1:201021683 [GRCh37]
Chr1:1q32.1 |
likely pathogenic |
| NM_000069.3(CACNA1S):c.1857G>T (p.Met619Ile) |
single nucleotide variant |
not provided [RCV002261620] |
Chr1:201075586 [GRCh38]
Chr1:201044714 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.707C>G (p.Thr236Arg) |
single nucleotide variant |
not provided [RCV002274754] |
Chr1:201089451 [GRCh38]
Chr1:201058579 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.2875del (p.Asp959fs) |
deletion |
not provided [RCV002275942] |
Chr1:201062493 [GRCh38]
Chr1:201031621 [GRCh37]
Chr1:1q32.1 |
likely pathogenic |
| NM_000069.3(CACNA1S):c.4431C>G (p.Ile1477Met) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV002285096] |
Chr1:201048592 [GRCh38]
Chr1:201017720 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.1631C>T (p.Ser544Leu) |
single nucleotide variant |
not provided [RCV002292162] |
Chr1:201077116 [GRCh38]
Chr1:201046244 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.3335G>A (p.Trp1112Ter) |
single nucleotide variant |
not provided [RCV002262260] |
Chr1:201060737 [GRCh38]
Chr1:201029865 [GRCh37]
Chr1:1q32.1 |
likely pathogenic |
| NM_000069.3(CACNA1S):c.1252_1253del (p.Asn418fs) |
deletion |
Malignant hyperthermia, susceptibility to, 5 [RCV002287877] |
Chr1:201083302..201083303 [GRCh38]
Chr1:201052430..201052431 [GRCh37]
Chr1:1q32.1 |
pathogenic |
| NM_000069.3(CACNA1S):c.82C>A (p.Pro28Thr) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV003774834]|not provided [RCV002265455] |
Chr1:201112258 [GRCh38]
Chr1:201081386 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.1720G>A (p.Ala574Thr) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV003101662]|Malignant hyperthermia, susceptibility to, 5 [RCV002288338]|not provided [RCV003325600] |
Chr1:201077027 [GRCh38]
Chr1:201046155 [GRCh37]
Chr1:1q32.1 |
likely benign|uncertain significance |
| GRCh37/hg19 1q31.3-44(chr1:197867914-249224684)x3 |
copy number gain |
See cases [RCV002287837] |
Chr1:197867914..249224684 [GRCh37]
Chr1:1q31.3-44 |
pathogenic |
| NM_000069.3(CACNA1S):c.2293C>T (p.Gln765Ter) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV002289494] |
Chr1:201070339 [GRCh38]
Chr1:201039467 [GRCh37]
Chr1:1q32.1 |
likely pathogenic |
| NM_000069.3(CACNA1S):c.1860G>T (p.Met620Ile) |
single nucleotide variant |
not provided [RCV002261617] |
Chr1:201075583 [GRCh38]
Chr1:201044711 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.825C>A (p.Phe275Leu) |
single nucleotide variant |
Congenital myopathy 18 [RCV003152510] |
Chr1:201089333 [GRCh38]
Chr1:201058461 [GRCh37]
Chr1:1q32.1 |
pathogenic |
| CACNA1S, ARG789CYS |
single nucleotide variant |
Myopathy, congenital, due to dihydropyridine receptor defect [RCV003152516] |
|
pathogenic |
| CACNA1S, PRO742SER |
single nucleotide variant |
Myopathy, congenital, due to dihydropyridine receptor defect [RCV003152513] |
|
pathogenic |
| NM_000069.3(CACNA1S):c.1744G>T (p.Gly582Trp) |
single nucleotide variant |
Congenital myopathy 18 [RCV003458870]|Hypokalemic periodic paralysis, type 1 [RCV003103172]|Hypokalemic periodic paralysis, type 1 [RCV003455524]|Malignant hyperthermia, susceptibility to, 5 [RCV003455525]|Thyrotoxic periodic paralysis, susceptibility to, 1 [RCV003455526]|not provided [RCV002464679] |
Chr1:201077003 [GRCh38]
Chr1:201046131 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.4931T>A (p.Leu1644Ter) |
single nucleotide variant |
Hypokalemic periodic paralysis [RCV002470170] |
Chr1:201043398 [GRCh38]
Chr1:201012526 [GRCh37]
Chr1:1q32.1 |
likely pathogenic |
| NM_000069.3(CACNA1S):c.1189_1190del (p.Ser397fs) |
microsatellite |
Congenital myopathy 18 [RCV003152508]|Hypokalemic periodic paralysis, type 1 [RCV003778912] |
Chr1:201084992..201084993 [GRCh38]
Chr1:201054120..201054121 [GRCh37]
Chr1:1q32.1 |
pathogenic |
| NM_000069.3(CACNA1S):c.599C>A (p.Ala200Asp) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV002303839] |
Chr1:201091735 [GRCh38]
Chr1:201060863 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.2700G>C (p.Arg900Ser) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV002306242]|Hypokalemic periodic paralysis, type 1 [RCV003102288] |
Chr1:201066274 [GRCh38]
Chr1:201035402 [GRCh37]
Chr1:1q32.1 |
pathogenic |
| NM_000069.3(CACNA1S):c.1459G>A (p.Gly487Ser) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV002295733] |
Chr1:201078039 [GRCh38]
Chr1:201047167 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.3107A>G (p.Asn1036Ser) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV002300252] |
Chr1:201061415 [GRCh38]
Chr1:201030543 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.3726G>T (p.Arg1242Ser) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV002306243] |
Chr1:201053528 [GRCh38]
Chr1:201022656 [GRCh37]
Chr1:1q32.1 |
likely pathogenic |
| NM_000069.3(CACNA1S):c.2740T>A (p.Leu914Met) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV002301955] |
Chr1:201066234 [GRCh38]
Chr1:201035362 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.4654A>G (p.Ile1552Val) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV002298081] |
Chr1:201047129 [GRCh38]
Chr1:201016257 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.4847A>G (p.Asn1616Ser) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV003073753] |
Chr1:201043482 [GRCh38]
Chr1:201012610 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.3806A>G (p.Tyr1269Cys) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV002512450] |
Chr1:201053264 [GRCh38]
Chr1:201022392 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.1150+6G>T |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV002616845] |
Chr1:201085430 [GRCh38]
Chr1:201054558 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.3472_3473del (p.Thr1158fs) |
deletion |
Hypokalemic periodic paralysis, type 1 [RCV002838920] |
Chr1:201059241..201059242 [GRCh38]
Chr1:201028369..201028370 [GRCh37]
Chr1:1q32.1 |
pathogenic |
| NM_000069.3(CACNA1S):c.3610-6C>G |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV003014302] |
Chr1:201054567 [GRCh38]
Chr1:201023695 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.2793C>T (p.Ile931=) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV002903244] |
Chr1:201065898 [GRCh38]
Chr1:201035026 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.4441+13del |
deletion |
Hypokalemic periodic paralysis, type 1 [RCV002613523] |
Chr1:201048569 [GRCh38]
Chr1:201017697 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.2988C>T (p.His996=) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV002881738] |
Chr1:201062009 [GRCh38]
Chr1:201031137 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.5254G>A (p.Glu1752Lys) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV003076692] |
Chr1:201040347 [GRCh38]
Chr1:201009475 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.152+16C>T |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV002903314] |
Chr1:201112172 [GRCh38]
Chr1:201081300 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.4158C>T (p.Tyr1386=) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV003014846] |
Chr1:201050472 [GRCh38]
Chr1:201019600 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.1090C>T (p.Arg364Trp) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV002882128] |
Chr1:201085496 [GRCh38]
Chr1:201054624 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.2421C>T (p.Leu807=) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV002975339] |
Chr1:201069541 [GRCh38]
Chr1:201038669 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.2419C>A (p.Leu807Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV002753362] |
Chr1:201069543 [GRCh38]
Chr1:201038671 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.1413G>C (p.Leu471=) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV003035030] |
Chr1:201078085 [GRCh38]
Chr1:201047213 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.3414+8C>T |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV002756606] |
Chr1:201060650 [GRCh38]
Chr1:201029778 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.5048+13A>G |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV002756214] |
Chr1:201043268 [GRCh38]
Chr1:201012396 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.5178G>T (p.Leu1726=) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV002996710] |
Chr1:201040670 [GRCh38]
Chr1:201009798 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.3054-16C>G |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV002820109] |
Chr1:201061484 [GRCh38]
Chr1:201030612 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.4668+14A>G |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV002756252] |
Chr1:201047101 [GRCh38]
Chr1:201016229 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.3141C>T (p.Ile1047=) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV002615857] |
Chr1:201061381 [GRCh38]
Chr1:201030509 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.2200G>A (p.Asp734Asn) |
single nucleotide variant |
Inborn genetic diseases [RCV002794676] |
Chr1:201072782 [GRCh38]
Chr1:201041910 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| GRCh37/hg19 1q25.3-32.3(chr1:181453460-213107248)x3 |
copy number gain |
not provided [RCV002475637] |
Chr1:181453460..213107248 [GRCh37]
Chr1:1q25.3-32.3 |
pathogenic |
| NM_000069.3(CACNA1S):c.3908A>G (p.Asn1303Ser) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV003076398] |
Chr1:201052602 [GRCh38]
Chr1:201021730 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.5049-17C>G |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV002971351] |
Chr1:201041606 [GRCh38]
Chr1:201010734 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.3954G>A (p.Arg1318=) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV002861889] |
Chr1:201051143 [GRCh38]
Chr1:201020271 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.493A>G (p.Arg165Gly) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV002967687] |
Chr1:201092020 [GRCh38]
Chr1:201061148 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.2473G>A (p.Asp825Asn) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV003011943] |
Chr1:201069489 [GRCh38]
Chr1:201038617 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.718G>A (p.Glu240Lys) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV002993558] |
Chr1:201089440 [GRCh38]
Chr1:201058568 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.2906+5A>G |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV002903698] |
Chr1:201062457 [GRCh38]
Chr1:201031585 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.2646C>T (p.Ser882=) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV002994657] |
Chr1:201066898 [GRCh38]
Chr1:201036026 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.2746-19T>C |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV002863604] |
Chr1:201065964 [GRCh38]
Chr1:201035092 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.3285C>A (p.Ala1095=) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV003034001] |
Chr1:201060787 [GRCh38]
Chr1:201029915 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.1873A>G (p.Met625Val) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV002971863] |
Chr1:201075570 [GRCh38]
Chr1:201044698 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.3720C>G (p.Val1240=) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV002904263] |
Chr1:201053534 [GRCh38]
Chr1:201022662 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.790G>A (p.Gly264Ser) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV002727016] |
Chr1:201089368 [GRCh38]
Chr1:201058496 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.4832_4849dup (p.Asn1616_Ser1617insPheLeuGluArgThrAsn) |
duplication |
Hypokalemic periodic paralysis, type 1 [RCV002776449] |
Chr1:201043479..201043480 [GRCh38]
Chr1:201012607..201012608 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.1366C>T (p.Gln456Ter) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV002613554] |
Chr1:201083189 [GRCh38]
Chr1:201052317 [GRCh37]
Chr1:1q32.1 |
pathogenic |
| NM_000069.3(CACNA1S):c.3646G>T (p.Gly1216Cys) |
single nucleotide variant |
Inborn genetic diseases [RCV002901542] |
Chr1:201054525 [GRCh38]
Chr1:201023653 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.399-16C>G |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV003032739] |
Chr1:201092130 [GRCh38]
Chr1:201061258 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.901-19A>C |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV002881997] |
Chr1:201087948 [GRCh38]
Chr1:201057076 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.4339-10C>A |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV003034152] |
Chr1:201048694 [GRCh38]
Chr1:201017822 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.1889C>T (p.Pro630Leu) |
single nucleotide variant |
CACNA1S-related condition [RCV003409948]|Hypokalemic periodic paralysis, type 1 [RCV002882236] |
Chr1:201075554 [GRCh38]
Chr1:201044682 [GRCh37]
Chr1:1q32.1 |
likely benign|uncertain significance |
| NM_000069.3(CACNA1S):c.4669-6C>T |
single nucleotide variant |
Congenital myopathy 18 [RCV003445192]|Hypokalemic periodic paralysis, type 1 [RCV002996079]|Hypokalemic periodic paralysis, type 1 [RCV003445189]|Malignant hyperthermia, susceptibility to, 5 [RCV003445190]|Thyrotoxic periodic paralysis, susceptibility to, 1 [RCV003445191]|not provided [RCV003326642] |
Chr1:201044462 [GRCh38]
Chr1:201013590 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.4740T>A (p.Ala1580=) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV002881917] |
Chr1:201044385 [GRCh38]
Chr1:201013513 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.1877C>T (p.Ala626Val) |
single nucleotide variant |
Inborn genetic diseases [RCV002732175] |
Chr1:201075566 [GRCh38]
Chr1:201044694 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.5371-3C>T |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV002617854] |
Chr1:201040085 [GRCh38]
Chr1:201009213 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.541+17C>T |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV002621436] |
Chr1:201091955 [GRCh38]
Chr1:201061083 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.5370+16G>C |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV003003014] |
Chr1:201040215 [GRCh38]
Chr1:201009343 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.336C>T (p.Phe112=) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV002636617] |
Chr1:201093944 [GRCh38]
Chr1:201063072 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.1710C>T (p.Ile570=) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV002914349] |
Chr1:201077037 [GRCh38]
Chr1:201046165 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.3832T>G (p.Phe1278Val) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV002800332] |
Chr1:201053238 [GRCh38]
Chr1:201022366 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.5394C>G (p.Gly1798=) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV002889192] |
Chr1:201040059 [GRCh38]
Chr1:201009187 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.3225G>A (p.Glu1075=) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV002926985] |
Chr1:201061297 [GRCh38]
Chr1:201030425 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.1233-5C>T |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV003079475] |
Chr1:201083327 [GRCh38]
Chr1:201052455 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.2360A>T (p.Lys787Met) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV002619640] |
Chr1:201070272 [GRCh38]
Chr1:201039400 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.1827+16G>A |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV002691251] |
Chr1:201076904 [GRCh38]
Chr1:201046032 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.2550+13T>C |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV002640477] |
Chr1:201069124 [GRCh38]
Chr1:201038252 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.177C>T (p.Leu59=) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV002639102] |
Chr1:201110245 [GRCh38]
Chr1:201079373 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.1356G>T (p.Glu452Asp) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV002800390] |
Chr1:201083199 [GRCh38]
Chr1:201052327 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.2064-5C>T |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV002637072] |
Chr1:201073647 [GRCh38]
Chr1:201042775 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.3427T>C (p.Ser1143Pro) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV002570119] |
Chr1:201059287 [GRCh38]
Chr1:201028415 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.3294G>A (p.Leu1098=) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV002889772] |
Chr1:201060778 [GRCh38]
Chr1:201029906 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.443A>T (p.His148Leu) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV003080818] |
Chr1:201092070 [GRCh38]
Chr1:201061198 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.1247A>G (p.Gln416Arg) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV002696054] |
Chr1:201083308 [GRCh38]
Chr1:201052436 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.1698C>T (p.Leu566=) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV002953379] |
Chr1:201077049 [GRCh38]
Chr1:201046177 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.2980G>A (p.Asp994Asn) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV002637771] |
Chr1:201062017 [GRCh38]
Chr1:201031145 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.756_758dup (p.Arg253_Cys254insArg) |
duplication |
Hypokalemic periodic paralysis, type 1 [RCV002885345] |
Chr1:201089399..201089400 [GRCh38]
Chr1:201058527..201058528 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.1265G>A (p.Arg422His) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV002780742]|not provided [RCV003481333] |
Chr1:201083290 [GRCh38]
Chr1:201052418 [GRCh37]
Chr1:1q32.1 |
benign|uncertain significance |
| NM_000069.3(CACNA1S):c.5135-17C>T |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV002912880] |
Chr1:201040730 [GRCh38]
Chr1:201009858 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.3715C>T (p.Arg1239Cys) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV003080081] |
Chr1:201053539 [GRCh38]
Chr1:201022667 [GRCh37]
Chr1:1q32.1 |
likely pathogenic |
| NM_000069.3(CACNA1S):c.1827+10C>T |
single nucleotide variant |
CACNA1S-related condition [RCV003898831]|Hypokalemic periodic paralysis, type 1 [RCV002591800] |
Chr1:201076910 [GRCh38]
Chr1:201046038 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.5301C>A (p.Pro1767=) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV002781182] |
Chr1:201040300 [GRCh38]
Chr1:201009428 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.4850C>A (p.Ser1617Tyr) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV002886044] |
Chr1:201043479 [GRCh38]
Chr1:201012607 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.2350C>G (p.Pro784Ala) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV003077778]|Inborn genetic diseases [RCV003077777] |
Chr1:201070282 [GRCh38]
Chr1:201039410 [GRCh37]
Chr1:1q32.1 |
benign|uncertain significance |
| NM_000069.3(CACNA1S):c.4113+20C>T |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV003077456] |
Chr1:201050964 [GRCh38]
Chr1:201020092 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.5292G>A (p.Glu1764=) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV003080184] |
Chr1:201040309 [GRCh38]
Chr1:201009437 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.1294A>G (p.Lys432Glu) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV002948311] |
Chr1:201083261 [GRCh38]
Chr1:201052389 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.355C>T (p.Arg119Cys) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV003052818] |
Chr1:201093925 [GRCh38]
Chr1:201063053 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.1233-20T>G |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV002846929] |
Chr1:201083342 [GRCh38]
Chr1:201052470 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.152+7T>C |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV003077277] |
Chr1:201112181 [GRCh38]
Chr1:201081309 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.3526-5C>T |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV002780328] |
Chr1:201058496 [GRCh38]
Chr1:201027624 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.4114-10T>G |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV002999750] |
Chr1:201050526 [GRCh38]
Chr1:201019654 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.5077G>A (p.Glu1693Lys) |
single nucleotide variant |
Congenital myopathy 18 [RCV003458884]|Hypokalemic periodic paralysis, type 1 [RCV002909245]|Hypokalemic periodic paralysis, type 1 [RCV003455601]|Inborn genetic diseases [RCV002931926]|Malignant hyperthermia, susceptibility to, 5 [RCV003456299]|Thyrotoxic periodic paralysis, susceptibility to, 1 [RCV003455602] |
Chr1:201041561 [GRCh38]
Chr1:201010689 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.3487C>A (p.Leu1163Met) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV002637067] |
Chr1:201059227 [GRCh38]
Chr1:201028355 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.1021C>T (p.Arg341Trp) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV003081149] |
Chr1:201085565 [GRCh38]
Chr1:201054693 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.1684C>T (p.Leu562=) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV003053024] |
Chr1:201077063 [GRCh38]
Chr1:201046191 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.5233A>C (p.Arg1745=) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV002885413] |
Chr1:201040368 [GRCh38]
Chr1:201009496 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.3057G>C (p.Leu1019=) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV002847864] |
Chr1:201061465 [GRCh38]
Chr1:201030593 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.3607G>A (p.Asp1203Asn) |
single nucleotide variant |
Congenital myopathy 18 [RCV003458885]|Hypokalemic periodic paralysis, type 1 [RCV002952713]|Hypokalemic periodic paralysis, type 1 [RCV003455611]|Inborn genetic diseases [RCV003340565]|Malignant hyperthermia, susceptibility to, 5 [RCV003455612]|Thyrotoxic periodic paralysis, susceptibility to, 1 [RCV003455613] |
Chr1:201058410 [GRCh38]
Chr1:201027538 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.3214G>A (p.Gly1072Arg) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV002622371] |
Chr1:201061308 [GRCh38]
Chr1:201030436 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.1022G>A (p.Arg341Gln) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV002886517] |
Chr1:201085564 [GRCh38]
Chr1:201054692 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.2875G>A (p.Asp959Asn) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV002998910] |
Chr1:201062493 [GRCh38]
Chr1:201031621 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.2227+11T>C |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV003079496] |
Chr1:201072744 [GRCh38]
Chr1:201041872 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.853G>A (p.Val285Met) |
single nucleotide variant |
Congenital myopathy 18 [RCV003458886]|Hypokalemic periodic paralysis, type 1 [RCV002948659]|Hypokalemic periodic paralysis, type 1 [RCV003455619]|Inborn genetic diseases [RCV002948660]|Malignant hyperthermia, susceptibility to, 5 [RCV003455620]|Thyrotoxic periodic paralysis, susceptibility to, 1 [RCV003455621] |
Chr1:201089305 [GRCh38]
Chr1:201058433 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.1005-12A>G |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV002637582] |
Chr1:201085593 [GRCh38]
Chr1:201054721 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.754C>T (p.Arg252Cys) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV002952962] |
Chr1:201089404 [GRCh38]
Chr1:201058532 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.3591C>T (p.Val1197=) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV002622645] |
Chr1:201058426 [GRCh38]
Chr1:201027554 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.4836G>A (p.Leu1612=) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV003080498] |
Chr1:201043493 [GRCh38]
Chr1:201012621 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.900+15G>A |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV002590422] |
Chr1:201089243 [GRCh38]
Chr1:201058371 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.3581T>C (p.Ile1194Thr) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV003080094] |
Chr1:201058436 [GRCh38]
Chr1:201027564 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.1511T>G (p.Val504Gly) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV002952462] |
Chr1:201077987 [GRCh38]
Chr1:201047115 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.5223C>A (p.Cys1741Ter) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV003078873] |
Chr1:201040625 [GRCh38]
Chr1:201009753 [GRCh37]
Chr1:1q32.1 |
pathogenic |
| NM_000069.3(CACNA1S):c.3962C>A (p.Thr1321Lys) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV002912938] |
Chr1:201051135 [GRCh38]
Chr1:201020263 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.1393+9G>A |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV002867086] |
Chr1:201083153 [GRCh38]
Chr1:201052281 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.2311G>A (p.Val771Met) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV002638202] |
Chr1:201070321 [GRCh38]
Chr1:201039449 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.5048+18C>T |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV003080138] |
Chr1:201043263 [GRCh38]
Chr1:201012391 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.2064-15G>A |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV002800045] |
Chr1:201073657 [GRCh38]
Chr1:201042785 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.3877G>A (p.Ala1293Thr) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV003002019] |
Chr1:201052633 [GRCh38]
Chr1:201021761 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.435C>T (p.Ile145=) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV003054163] |
Chr1:201092078 [GRCh38]
Chr1:201061206 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.2464A>T (p.Ile822Phe) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV002619000] |
Chr1:201069498 [GRCh38]
Chr1:201038626 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.705C>G (p.Ala235=) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV002948379] |
Chr1:201089453 [GRCh38]
Chr1:201058581 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.1842A>C (p.Glu614Asp) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV002979454] |
Chr1:201075601 [GRCh38]
Chr1:201044729 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.3051T>C (p.Pro1017=) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV002626198] |
Chr1:201061946 [GRCh38]
Chr1:201031074 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.4263C>A (p.Asp1421Glu) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV002805271] |
Chr1:201049078 [GRCh38]
Chr1:201018206 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.724C>T (p.Pro242Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV002763370] |
Chr1:201089434 [GRCh38]
Chr1:201058562 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.1620-15C>T |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV002932219] |
Chr1:201077142 [GRCh38]
Chr1:201046270 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.916G>A (p.Gly306Arg) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV002595653] |
Chr1:201087914 [GRCh38]
Chr1:201057042 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.2258C>T (p.Pro753Leu) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV002919024] |
Chr1:201070374 [GRCh38]
Chr1:201039502 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.3861+13C>G |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV002667102] |
Chr1:201053196 [GRCh38]
Chr1:201022324 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.2491-19G>A |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV002710995] |
Chr1:201069215 [GRCh38]
Chr1:201038343 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.3483C>T (p.Phe1161=) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV002852057] |
Chr1:201059231 [GRCh38]
Chr1:201028359 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.4043A>T (p.Glu1348Val) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV003085807] |
Chr1:201051054 [GRCh38]
Chr1:201020182 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.3760C>T (p.Arg1254Ter) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV002894973] |
Chr1:201053494 [GRCh38]
Chr1:201022622 [GRCh37]
Chr1:1q32.1 |
pathogenic |
| NM_000069.3(CACNA1S):c.1250G>C (p.Trp417Ser) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV002741090] |
Chr1:201083305 [GRCh38]
Chr1:201052433 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.3953+19C>T |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV002957577] |
Chr1:201052538 [GRCh38]
Chr1:201021666 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.3766C>T (p.Leu1256Phe) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV003059742] |
Chr1:201053488 [GRCh38]
Chr1:201022616 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.4966C>T (p.Leu1656=) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV003059588] |
Chr1:201043363 [GRCh38]
Chr1:201012491 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.2964C>T (p.Arg988=) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV002572843] |
Chr1:201062033 [GRCh38]
Chr1:201031161 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.399-20C>G |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV002983017] |
Chr1:201092134 [GRCh38]
Chr1:201061262 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.5045C>T (p.Ser1682Phe) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV002574765] |
Chr1:201043284 [GRCh38]
Chr1:201012412 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.47C>T (p.Pro16Leu) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV002624398] |
Chr1:201112293 [GRCh38]
Chr1:201081421 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.1749G>A (p.Gly583=) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV003057834] |
Chr1:201076998 [GRCh38]
Chr1:201046126 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.4545T>A (p.Asp1515Glu) |
single nucleotide variant |
not provided [RCV002508694] |
Chr1:201047238 [GRCh38]
Chr1:201016366 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.1122G>T (p.Glu374Asp) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV002851730] |
Chr1:201085464 [GRCh38]
Chr1:201054592 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.983T>C (p.Leu328Pro) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV003041543] |
Chr1:201087847 [GRCh38]
Chr1:201056975 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.2829C>T (p.Ala943=) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV002574991] |
Chr1:201065862 [GRCh38]
Chr1:201034990 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.3043G>A (p.Gly1015Arg) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV002957605] |
Chr1:201061954 [GRCh38]
Chr1:201031082 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.2228-10C>T |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV003058199] |
Chr1:201070414 [GRCh38]
Chr1:201039542 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.237C>G (p.Asn79Lys) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV002766440] |
Chr1:201110185 [GRCh38]
Chr1:201079313 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.4794C>G (p.Phe1598Leu) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV002982852] |
Chr1:201044331 [GRCh38]
Chr1:201013459 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.1827+8C>T |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV002594331] |
Chr1:201076912 [GRCh38]
Chr1:201046040 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.1551_1552inv (p.Ala518Thr) |
inversion |
Hypokalemic periodic paralysis, type 1 [RCV002982367] |
Chr1:201077946..201077947 [GRCh38]
Chr1:201047074..201047075 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.5531G>C (p.Ser1844Thr) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV002982420] |
Chr1:201039922 [GRCh38]
Chr1:201009050 [GRCh37]
Chr1:1q32.1 |
benign |
| NM_000069.3(CACNA1S):c.230A>G (p.Asp77Gly) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV003082322] |
Chr1:201110192 [GRCh38]
Chr1:201079320 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.2265C>T (p.Ser755=) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV003057200] |
Chr1:201070367 [GRCh38]
Chr1:201039495 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.1949-8C>T |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV003041309] |
Chr1:201074628 [GRCh38]
Chr1:201043756 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.2264G>T (p.Ser755Ile) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV002890971] |
Chr1:201070368 [GRCh38]
Chr1:201039496 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.2737G>A (p.Gly913Arg) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV002575050] |
Chr1:201066237 [GRCh38]
Chr1:201035365 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.629A>G (p.Tyr210Cys) |
single nucleotide variant |
Inborn genetic diseases [RCV002893593] |
Chr1:201091705 [GRCh38]
Chr1:201060833 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.2457A>G (p.Glu819=) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV003082497] |
Chr1:201069505 [GRCh38]
Chr1:201038633 [GRCh37]
Chr1:1q32.1 |
benign |
| NM_000069.3(CACNA1S):c.3667-16G>C |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV002596012] |
Chr1:201053603 [GRCh38]
Chr1:201022731 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.4504A>G (p.Ser1502Gly) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV002575936] |
Chr1:201047564 [GRCh38]
Chr1:201016692 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.2853+1G>T |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV003057506] |
Chr1:201065837 [GRCh38]
Chr1:201034965 [GRCh37]
Chr1:1q32.1 |
likely pathogenic |
| NM_000069.3(CACNA1S):c.4692A>G (p.Glu1564=) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV002572693] |
Chr1:201044433 [GRCh38]
Chr1:201013561 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.3288C>A (p.Arg1096=) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV002572694] |
Chr1:201060784 [GRCh38]
Chr1:201029912 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.3610-12T>G |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV003058564] |
Chr1:201054573 [GRCh38]
Chr1:201023701 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.1742T>C (p.Phe581Ser) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV002876507] |
Chr1:201077005 [GRCh38]
Chr1:201046133 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.2827G>A (p.Ala943Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV002826895] |
Chr1:201065864 [GRCh38]
Chr1:201034992 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.5215G>T (p.Ala1739Ser) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV003083134] |
Chr1:201040633 [GRCh38]
Chr1:201009761 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.4242-7C>T |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV002957834] |
Chr1:201049106 [GRCh38]
Chr1:201018234 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.1005-5T>C |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV002801891] |
Chr1:201085586 [GRCh38]
Chr1:201054714 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.4339C>T (p.Arg1447Trp) |
single nucleotide variant |
Congenital myopathy 18 [RCV003458893]|Hypokalemic periodic paralysis, type 1 [RCV003058753]|Hypokalemic periodic paralysis, type 1 [RCV003455679]|Inborn genetic diseases [RCV003060470]|Malignant hyperthermia, susceptibility to, 5 [RCV003456304]|Thyrotoxic periodic paralysis, susceptibility to, 1 [RCV003455680] |
Chr1:201048684 [GRCh38]
Chr1:201017812 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.2158-7C>T |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV002574536] |
Chr1:201072831 [GRCh38]
Chr1:201041959 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.4219G>T (p.Ala1407Ser) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV003083072] |
Chr1:201050411 [GRCh38]
Chr1:201019539 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.1158G>A (p.Leu386=) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV002766602] |
Chr1:201085024 [GRCh38]
Chr1:201054152 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.2308G>A (p.Ala770Thr) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV002765712] |
Chr1:201070324 [GRCh38]
Chr1:201039452 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.1828-18T>C |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV003085407] |
Chr1:201075633 [GRCh38]
Chr1:201044761 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.1151-13C>G |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV002929010]|Malignant hyperthermia, susceptibility to, 5 [RCV003517440] |
Chr1:201085044 [GRCh38]
Chr1:201054172 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.4338+8G>C |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV002596214] |
Chr1:201048995 [GRCh38]
Chr1:201018123 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.1282A>T (p.Ile428Phe) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV002642837]|Inborn genetic diseases [RCV003340530] |
Chr1:201083273 [GRCh38]
Chr1:201052401 [GRCh37]
Chr1:1q32.1 |
likely benign|uncertain significance |
| NM_000069.3(CACNA1S):c.2079G>A (p.Lys693=) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV002918353] |
Chr1:201073627 [GRCh38]
Chr1:201042755 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.4669-12C>T |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV002632892] |
Chr1:201044468 [GRCh38]
Chr1:201013596 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.2915A>G (p.Tyr972Cys) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV002602772] |
Chr1:201062082 [GRCh38]
Chr1:201031210 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.2745+5G>A |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV003030743] |
Chr1:201066224 [GRCh38]
Chr1:201035352 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.2214A>C (p.Ser738=) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV003028185] |
Chr1:201072768 [GRCh38]
Chr1:201041896 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.4242-19T>A |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV002966747] |
Chr1:201049118 [GRCh38]
Chr1:201018246 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.3861+5G>A |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV002895467] |
Chr1:201053204 [GRCh38]
Chr1:201022332 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.1713C>T (p.Val571=) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV002770154] |
Chr1:201077034 [GRCh38]
Chr1:201046162 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.1304A>G (p.Tyr435Cys) |
single nucleotide variant |
Inborn genetic diseases [RCV002747634] |
Chr1:201083251 [GRCh38]
Chr1:201052379 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.5278G>T (p.Gly1760Trp) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV002580340] |
Chr1:201040323 [GRCh38]
Chr1:201009451 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.4836G>C (p.Leu1612=) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV002581853] |
Chr1:201043493 [GRCh38]
Chr1:201012621 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.5341G>C (p.Ala1781Pro) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV002602534] |
Chr1:201040260 [GRCh38]
Chr1:201009388 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.5134+15T>C |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV002600196] |
Chr1:201041489 [GRCh38]
Chr1:201010617 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.4331C>T (p.Ala1444Val) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV002598758] |
Chr1:201049010 [GRCh38]
Chr1:201018138 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.4325G>A (p.Arg1442Gln) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV002581901] |
Chr1:201049016 [GRCh38]
Chr1:201018144 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.871A>G (p.Met291Val) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV002632864] |
Chr1:201089287 [GRCh38]
Chr1:201058415 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.1898C>G (p.Pro633Arg) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV002651300] |
Chr1:201075545 [GRCh38]
Chr1:201044673 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.794G>A (p.Trp265Ter) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV002806462] |
Chr1:201089364 [GRCh38]
Chr1:201058492 [GRCh37]
Chr1:1q32.1 |
pathogenic |
| NM_000069.3(CACNA1S):c.5611C>T (p.Pro1871Ser) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV002632508] |
Chr1:201039842 [GRCh38]
Chr1:201008970 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.5421C>T (p.Ile1807=) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV002632689] |
Chr1:201040032 [GRCh38]
Chr1:201009160 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.2745+15G>C |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV002651220] |
Chr1:201066214 [GRCh38]
Chr1:201035342 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.4672G>A (p.Gly1558Arg) |
single nucleotide variant |
CACNA1S-related condition [RCV003963505]|Hypokalemic periodic paralysis, type 1 [RCV002966936] |
Chr1:201044453 [GRCh38]
Chr1:201013581 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.2360+9C>T |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV002651596] |
Chr1:201070263 [GRCh38]
Chr1:201039391 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.642G>C (p.Gly214=) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV002835282] |
Chr1:201091692 [GRCh38]
Chr1:201060820 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.2550+7G>A |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV002581910] |
Chr1:201069130 [GRCh38]
Chr1:201038258 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.955T>C (p.Leu319=) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV002629910] |
Chr1:201087875 [GRCh38]
Chr1:201057003 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.3459C>T (p.Leu1153=) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV003087016] |
Chr1:201059255 [GRCh38]
Chr1:201028383 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.4415G>T (p.Arg1472Leu) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV002628412] |
Chr1:201048608 [GRCh38]
Chr1:201017736 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.4610T>C (p.Met1537Thr) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV002579832] |
Chr1:201047173 [GRCh38]
Chr1:201016301 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.103A>C (p.Thr35Pro) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV002922319] |
Chr1:201112237 [GRCh38]
Chr1:201081365 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.2491-19G>T |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV002647381] |
Chr1:201069215 [GRCh38]
Chr1:201038343 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.5049-7A>C |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV003026947] |
Chr1:201041596 [GRCh38]
Chr1:201010724 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.1232+11G>T |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV002716794] |
Chr1:201084939 [GRCh38]
Chr1:201054067 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.3027G>T (p.Thr1009=) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV003060425] |
Chr1:201061970 [GRCh38]
Chr1:201031098 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.3357C>T (p.Tyr1119=) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV002598536] |
Chr1:201060715 [GRCh38]
Chr1:201029843 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NC_000001.11:g.201044429_201044459del |
deletion |
Hypokalemic periodic paralysis, type 1 [RCV002833635] |
Chr1:201044426..201044456 [GRCh38]
Chr1:201013554..201013584 [GRCh37]
Chr1:1q32.1 |
pathogenic |
| NM_000069.3(CACNA1S):c.3140T>A (p.Ile1047Asn) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV002922178] |
Chr1:201061382 [GRCh38]
Chr1:201030510 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.2853+19G>A |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV002647934] |
Chr1:201065819 [GRCh38]
Chr1:201034947 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.3054-8del |
deletion |
Hypokalemic periodic paralysis, type 1 [RCV003062024] |
Chr1:201061476 [GRCh38]
Chr1:201030604 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.1244G>C (p.Arg415Thr) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV002833942] |
Chr1:201083311 [GRCh38]
Chr1:201052439 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.4885C>G (p.Gln1629Glu) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV003062541] |
Chr1:201043444 [GRCh38]
Chr1:201012572 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.1623T>C (p.Tyr541=) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV002627980] |
Chr1:201077124 [GRCh38]
Chr1:201046252 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.251T>A (p.Leu84His) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV002811219] |
Chr1:201110171 [GRCh38]
Chr1:201079299 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.3381C>T (p.Leu1127=) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV003086607] |
Chr1:201060691 [GRCh38]
Chr1:201029819 [GRCh37]
Chr1:1q32.1 |
benign |
| NM_000069.3(CACNA1S):c.1984G>A (p.Asp662Asn) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV002770116] |
Chr1:201074585 [GRCh38]
Chr1:201043713 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.4543+18G>A |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV003064890] |
Chr1:201047507 [GRCh38]
Chr1:201016635 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.153-18C>T |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV002646613] |
Chr1:201110287 [GRCh38]
Chr1:201079415 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.1035G>A (p.Lys345=) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV002962246] |
Chr1:201085551 [GRCh38]
Chr1:201054679 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.5484G>A (p.Met1828Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV002718066] |
Chr1:201039969 [GRCh38]
Chr1:201009097 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.437A>G (p.Gln146Arg) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV002651119] |
Chr1:201092076 [GRCh38]
Chr1:201061204 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.100C>T (p.Leu34=) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV002628240] |
Chr1:201112240 [GRCh38]
Chr1:201081368 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.1596C>T (p.Leu532=) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV002895376] |
Chr1:201077902 [GRCh38]
Chr1:201047030 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.2635T>C (p.Ser879Pro) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV002647291] |
Chr1:201066909 [GRCh38]
Chr1:201036037 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.5199A>C (p.Arg1733Ser) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV002629601] |
Chr1:201040649 [GRCh38]
Chr1:201009777 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.2063+4A>C |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV002651223] |
Chr1:201074502 [GRCh38]
Chr1:201043630 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.1704C>G (p.Leu568=) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV002578321] |
Chr1:201077043 [GRCh38]
Chr1:201046171 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.4197G>A (p.Leu1399=) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV002720541] |
Chr1:201050433 [GRCh38]
Chr1:201019561 [GRCh37]
Chr1:1q32.1 |
likely benign|uncertain significance |
| NM_000069.3(CACNA1S):c.4060A>C (p.Thr1354Pro) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV002670968] |
Chr1:201051037 [GRCh38]
Chr1:201020165 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.1214A>G (p.Asn405Ser) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV003088487] |
Chr1:201084968 [GRCh38]
Chr1:201054096 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.4803T>C (p.Thr1601=) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV002628454] |
Chr1:201043526 [GRCh38]
Chr1:201012654 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.1920C>T (p.Tyr640=) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV003030828] |
Chr1:201075523 [GRCh38]
Chr1:201044651 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.1232+20C>T |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV003086846] |
Chr1:201084930 [GRCh38]
Chr1:201054058 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.2503T>G (p.Phe835Val) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV003064917] |
Chr1:201069184 [GRCh38]
Chr1:201038312 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.5340A>C (p.Ser1780=) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV003091543] |
Chr1:201040261 [GRCh38]
Chr1:201009389 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.3861+15G>A |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV003062704] |
Chr1:201053194 [GRCh38]
Chr1:201022322 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.1393+12C>T |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV002651824] |
Chr1:201083150 [GRCh38]
Chr1:201052278 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.3112C>T (p.Arg1038Cys) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV002628591]|not provided [RCV003491260] |
Chr1:201061410 [GRCh38]
Chr1:201030538 [GRCh37]
Chr1:1q32.1 |
likely benign|uncertain significance |
| NM_000069.3(CACNA1S):c.2228-14C>T |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV003087908] |
Chr1:201070418 [GRCh38]
Chr1:201039546 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.1278T>A (p.His426Gln) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV003065509] |
Chr1:201083277 [GRCh38]
Chr1:201052405 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.4775C>G (p.Ala1592Gly) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV003087601] |
Chr1:201044350 [GRCh38]
Chr1:201013478 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.2317A>G (p.Ile773Val) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV002895751] |
Chr1:201070315 [GRCh38]
Chr1:201039443 [GRCh37]
Chr1:1q32.1 |
benign |
| NM_000069.3(CACNA1S):c.3862-13T>C |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV003062817] |
Chr1:201052661 [GRCh38]
Chr1:201021789 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.5493G>A (p.Glu1831=) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV003029845] |
Chr1:201039960 [GRCh38]
Chr1:201009088 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.2906+17G>C |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV003065554] |
Chr1:201062445 [GRCh38]
Chr1:201031573 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.4819C>T (p.Gln1607Ter) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV002805994] |
Chr1:201043510 [GRCh38]
Chr1:201012638 [GRCh37]
Chr1:1q32.1 |
pathogenic |
| NM_000069.3(CACNA1S):c.4182G>C (p.Leu1394=) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV002627453] |
Chr1:201050448 [GRCh38]
Chr1:201019576 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.4339C>A (p.Arg1447=) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV002654547] |
Chr1:201048684 [GRCh38]
Chr1:201017812 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.4650G>C (p.Lys1550Asn) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV002943179] |
Chr1:201047133 [GRCh38]
Chr1:201016261 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.4371C>T (p.Ser1457=) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV002942195] |
Chr1:201048652 [GRCh38]
Chr1:201017780 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.2141T>A (p.Ile714Asn) |
single nucleotide variant |
Inborn genetic diseases [RCV002723487] |
Chr1:201073565 [GRCh38]
Chr1:201042693 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.2658-8C>T |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV002603323] |
Chr1:201066324 [GRCh38]
Chr1:201035452 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.1607T>C (p.Phe536Ser) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV002658074] |
Chr1:201077891 [GRCh38]
Chr1:201047019 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.4565A>G (p.Lys1522Arg) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV003069764] |
Chr1:201047218 [GRCh38]
Chr1:201016346 [GRCh37]
Chr1:1q32.1 |
benign |
| NM_000069.3(CACNA1S):c.4242-14G>C |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV002814867] |
Chr1:201049113 [GRCh38]
Chr1:201018241 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.4941C>A (p.Phe1647Leu) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV003777691]|Inborn genetic diseases [RCV002724100] |
Chr1:201043388 [GRCh38]
Chr1:201012516 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.738C>G (p.Ala246=) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV002603794] |
Chr1:201089420 [GRCh38]
Chr1:201058548 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.728C>T (p.Ser243Leu) |
single nucleotide variant |
Congenital myopathy 18 [RCV003458902]|Hypokalemic periodic paralysis, type 1 [RCV002634134]|Hypokalemic periodic paralysis, type 1 [RCV003455737]|Inborn genetic diseases [RCV002634135]|Malignant hyperthermia, susceptibility to, 5 [RCV003455738]|Thyrotoxic periodic paralysis, susceptibility to, 1 [RCV003455739] |
Chr1:201089430 [GRCh38]
Chr1:201058558 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.4835T>C (p.Leu1612Pro) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV002815110] |
Chr1:201043494 [GRCh38]
Chr1:201012622 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.1602G>A (p.Arg534=) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV002943865] |
Chr1:201077896 [GRCh38]
Chr1:201047024 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.3861+13C>T |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV002635661] |
Chr1:201053196 [GRCh38]
Chr1:201022324 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.4176C>A (p.Ser1392=) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV003049557] |
Chr1:201050454 [GRCh38]
Chr1:201019582 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.1403A>G (p.Asn468Ser) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV003066818] |
Chr1:201078095 [GRCh38]
Chr1:201047223 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.4967del (p.Leu1656fs) |
deletion |
Congenital myopathy 18 [RCV003222451]|Hypokalemic periodic paralysis, type 1 [RCV002942823] |
Chr1:201043362 [GRCh38]
Chr1:201012490 [GRCh37]
Chr1:1q32.1 |
pathogenic |
| NM_000069.3(CACNA1S):c.5469G>A (p.Glu1823=) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV002583535] |
Chr1:201039984 [GRCh38]
Chr1:201009112 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.3953+14G>T |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV003092359] |
Chr1:201052543 [GRCh38]
Chr1:201021671 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.786G>C (p.Arg262=) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV003068211] |
Chr1:201089372 [GRCh38]
Chr1:201058500 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.5300C>G (p.Pro1767Arg) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV003071364] |
Chr1:201040301 [GRCh38]
Chr1:201009429 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.1509G>C (p.Val503=) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV002606396] |
Chr1:201077989 [GRCh38]
Chr1:201047117 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.1240T>C (p.Trp414Arg) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV002588767] |
Chr1:201083315 [GRCh38]
Chr1:201052443 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.2428C>T (p.Leu810=) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV002587614] |
Chr1:201069534 [GRCh38]
Chr1:201038662 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.3632G>A (p.Gly1211Glu) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV003071771] |
Chr1:201054539 [GRCh38]
Chr1:201023667 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.1407G>T (p.Arg469=) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV003069408] |
Chr1:201078091 [GRCh38]
Chr1:201047219 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.3261A>C (p.Gln1087His) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV003068704] |
Chr1:201060811 [GRCh38]
Chr1:201029939 [GRCh37]
Chr1:1q32.1 |
benign |
| NM_000069.3(CACNA1S):c.3054-3del |
deletion |
Hypokalemic periodic paralysis, type 1 [RCV002605866] |
Chr1:201061471 [GRCh38]
Chr1:201030599 [GRCh37]
Chr1:1q32.1 |
benign |
| NM_000069.3(CACNA1S):c.911C>G (p.Ala304Gly) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV002605945] |
Chr1:201087919 [GRCh38]
Chr1:201057047 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.1410G>C (p.Val470=) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV003070799] |
Chr1:201078088 [GRCh38]
Chr1:201047216 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.3493A>T (p.Met1165Leu) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV002584532] |
Chr1:201059221 [GRCh38]
Chr1:201028349 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.4544-16G>A |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV002606954] |
Chr1:201047255 [GRCh38]
Chr1:201016383 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.5001T>C (p.Asn1667=) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV002585461] |
Chr1:201043328 [GRCh38]
Chr1:201012456 [GRCh37]
Chr1:1q32.1 |
benign |
| NM_000069.3(CACNA1S):c.2447T>C (p.Leu816Pro) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV002587328] |
Chr1:201069515 [GRCh38]
Chr1:201038643 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.4172G>A (p.Trp1391Ter) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV002588291] |
Chr1:201050458 [GRCh38]
Chr1:201019586 [GRCh37]
Chr1:1q32.1 |
pathogenic |
| NM_000069.3(CACNA1S):c.390C>T (p.Val130=) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV002610824] |
Chr1:201093890 [GRCh38]
Chr1:201063018 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.3610-15C>G |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV003068134] |
Chr1:201054576 [GRCh38]
Chr1:201023704 [GRCh37]
Chr1:1q32.1 |
likely benign |
| CACNA1S, 1-BP DEL, 4967T |
deletion |
Myopathy, congenital, due to dihydropyridine receptor defect [RCV003152507] |
|
pathogenic |
| NM_000069.3(CACNA1S):c.3215G>A (p.Gly1072Glu) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV002612808] |
Chr1:201061307 [GRCh38]
Chr1:201030435 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.320C>T (p.Ala107Val) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV003071257] |
Chr1:201093960 [GRCh38]
Chr1:201063088 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.111G>A (p.Glu37=) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV002588339] |
Chr1:201112229 [GRCh38]
Chr1:201081357 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.3386T>C (p.Met1129Thr) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV002610973] |
Chr1:201060686 [GRCh38]
Chr1:201029814 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.3757G>C (p.Val1253Leu) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV002609241] |
Chr1:201053497 [GRCh38]
Chr1:201022625 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.1989C>A (p.Asn663Lys) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV003066620] |
Chr1:201074580 [GRCh38]
Chr1:201043708 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.399-20C>A |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV002613285] |
Chr1:201092134 [GRCh38]
Chr1:201061262 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.1980C>T (p.Ala660=) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV003069545] |
Chr1:201074589 [GRCh38]
Chr1:201043717 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.4506C>T (p.Ser1502=) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV002588843] |
Chr1:201047562 [GRCh38]
Chr1:201016690 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.2065G>A (p.Gly689Ser) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV002607759]|not provided [RCV003491258] |
Chr1:201073641 [GRCh38]
Chr1:201042769 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.258+2T>C |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV003092933] |
Chr1:201110162 [GRCh38]
Chr1:201079290 [GRCh37]
Chr1:1q32.1 |
likely pathogenic |
| NM_000069.3(CACNA1S):c.1620-12C>T |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV002942970] |
Chr1:201077139 [GRCh38]
Chr1:201046267 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.1724T>C (p.Leu575Pro) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV003069932] |
Chr1:201077023 [GRCh38]
Chr1:201046151 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.5088G>A (p.Thr1696=) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV002654737] |
Chr1:201041550 [GRCh38]
Chr1:201010678 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.708G>A (p.Thr236=) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV003072641] |
Chr1:201089450 [GRCh38]
Chr1:201058578 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.2479A>G (p.Met827Val) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV003072719] |
Chr1:201069483 [GRCh38]
Chr1:201038611 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.2161A>C (p.Lys721Gln) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV002584522] |
Chr1:201072821 [GRCh38]
Chr1:201041949 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.304G>T (p.Ala102Ser) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV003070709] |
Chr1:201093976 [GRCh38]
Chr1:201063104 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.2034T>A (p.Ala678=) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV003073129] |
Chr1:201074535 [GRCh38]
Chr1:201043663 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.5506C>T (p.Arg1836Ter) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV002633412] |
Chr1:201039947 [GRCh38]
Chr1:201009075 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.3513C>T (p.Ala1171=) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV003050888] |
Chr1:201059201 [GRCh38]
Chr1:201028329 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.4641G>T (p.Arg1547=) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV002607056] |
Chr1:201047142 [GRCh38]
Chr1:201016270 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.136A>C (p.Ser46Arg) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV002610699] |
Chr1:201112204 [GRCh38]
Chr1:201081332 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.292T>G (p.Ser98Ala) |
single nucleotide variant |
Inborn genetic diseases [RCV003208978] |
Chr1:201093988 [GRCh38]
Chr1:201063116 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.1535T>C (p.Leu512Pro) |
single nucleotide variant |
not provided [RCV003487319] |
Chr1:201077963 [GRCh38]
Chr1:201047091 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.2954T>C (p.Leu985Pro) |
single nucleotide variant |
not provided [RCV003487320] |
Chr1:201062043 [GRCh38]
Chr1:201031171 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.3035C>G (p.Thr1012Ser) |
single nucleotide variant |
not provided [RCV003487321] |
Chr1:201061962 [GRCh38]
Chr1:201031090 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.947C>T (p.Thr316Ile) |
single nucleotide variant |
not provided [RCV003487322] |
Chr1:201087883 [GRCh38]
Chr1:201057011 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.3585del (p.Ile1195fs) |
deletion |
not provided [RCV003487323] |
Chr1:201058432 [GRCh38]
Chr1:201027560 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.4034C>A (p.Ala1345Asp) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV003142256] |
Chr1:201051063 [GRCh38]
Chr1:201020191 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.32T>G (p.Leu11Arg) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV003779707]|Inborn genetic diseases [RCV003217186] |
Chr1:201112308 [GRCh38]
Chr1:201081436 [GRCh37]
Chr1:1q32.1 |
likely benign|uncertain significance |
| NM_000069.3(CACNA1S):c.4678C>T (p.Arg1560Trp) |
single nucleotide variant |
Inborn genetic diseases [RCV003308496] |
Chr1:201044447 [GRCh38]
Chr1:201013575 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.2699G>T (p.Arg900Met) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV003320006] |
Chr1:201066275 [GRCh38]
Chr1:201035403 [GRCh37]
Chr1:1q32.1 |
pathogenic |
| NM_000069.3(CACNA1S):c.148T>C (p.Trp50Arg) |
single nucleotide variant |
not provided [RCV003328731] |
Chr1:201112192 [GRCh38]
Chr1:201081320 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.18C>T (p.Pro6=) |
single nucleotide variant |
not provided [RCV003326769] |
Chr1:201112322 [GRCh38]
Chr1:201081450 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.5466A>G (p.Pro1822=) |
single nucleotide variant |
not provided [RCV003334112] |
Chr1:201039987 [GRCh38]
Chr1:201009115 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.259-2del |
deletion |
Congenital myopathy 18 [RCV003387705] |
Chr1:201094023 [GRCh38]
Chr1:201063151 [GRCh37]
Chr1:1q32.1 |
likely pathogenic |
| NM_000069.3(CACNA1S):c.3343G>C (p.Val1115Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV003376838] |
Chr1:201060729 [GRCh38]
Chr1:201029857 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.5051T>C (p.Val1684Ala) |
single nucleotide variant |
Inborn genetic diseases [RCV003386215] |
Chr1:201041587 [GRCh38]
Chr1:201010715 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.1015A>G (p.Lys339Glu) |
single nucleotide variant |
Inborn genetic diseases [RCV003373829] |
Chr1:201085571 [GRCh38]
Chr1:201054699 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.1949-8_1949-1del |
deletion |
Hypokalemic periodic paralysis, type 1 [RCV003333309] |
Chr1:201074621..201074628 [GRCh38]
Chr1:201043749..201043756 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.3220A>G (p.Thr1074Ala) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV003778057]|Inborn genetic diseases [RCV003376519] |
Chr1:201061302 [GRCh38]
Chr1:201030430 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.629dup (p.Tyr210Ter) |
duplication |
Hypokalemic periodic paralysis, type 1 [RCV003782210] |
Chr1:201091704..201091705 [GRCh38]
Chr1:201060832..201060833 [GRCh37]
Chr1:1q32.1 |
pathogenic |
| NM_000069.3(CACNA1S):c.1846T>C (p.Trp616Arg) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV003791163] |
Chr1:201075597 [GRCh38]
Chr1:201044725 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.154C>A (p.Pro52Thr) |
single nucleotide variant |
not provided [RCV003481583] |
Chr1:201110268 [GRCh38]
Chr1:201079396 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.4797+10A>G |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV003792031] |
Chr1:201044318 [GRCh38]
Chr1:201013446 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.2553G>A (p.Met851Ile) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV003486389] |
Chr1:201066991 [GRCh38]
Chr1:201036119 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.3609+1G>A |
single nucleotide variant |
not specified [RCV003388352] |
Chr1:201058407 [GRCh38]
Chr1:201027535 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.5344C>G (p.Pro1782Ala) |
single nucleotide variant |
CACNA1S-related condition [RCV003412071]|Hypokalemic periodic paralysis, type 1 [RCV003778195] |
Chr1:201040257 [GRCh38]
Chr1:201009385 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.4270A>G (p.Thr1424Ala) |
single nucleotide variant |
not provided [RCV003441616] |
Chr1:201049071 [GRCh38]
Chr1:201018199 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.5238_5263del (p.Ser1748fs) |
deletion |
CACNA1S-related condition [RCV003397729] |
Chr1:201040338..201040363 [GRCh38]
Chr1:201009466..201009491 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.4677G>A (p.Leu1559=) |
single nucleotide variant |
not provided [RCV003456684] |
Chr1:201044448 [GRCh38]
Chr1:201013576 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.185T>C (p.Phe62Ser) |
single nucleotide variant |
not specified [RCV003404775] |
Chr1:201110237 [GRCh38]
Chr1:201079365 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.4943C>A (p.Pro1648Gln) |
single nucleotide variant |
CACNA1S-related condition [RCV003405810] |
Chr1:201043386 [GRCh38]
Chr1:201012514 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.2896delinsCT (p.Glu966fs) |
indel |
CACNA1S-related condition [RCV003416845] |
Chr1:201062472 [GRCh38]
Chr1:201031600 [GRCh37]
Chr1:1q32.1 |
likely pathogenic |
| NM_000069.3(CACNA1S):c.5392G>C (p.Gly1798Arg) |
single nucleotide variant |
not provided [RCV003414614] |
Chr1:201040061 [GRCh38]
Chr1:201009189 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.4443T>C (p.Gly1481=) |
single nucleotide variant |
not provided [RCV003414615] |
Chr1:201047625 [GRCh38]
Chr1:201016753 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.2581G>A (p.Gly861Ser) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV003778371]|not provided [RCV003414616] |
Chr1:201066963 [GRCh38]
Chr1:201036091 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.2526C>T (p.Val842=) |
single nucleotide variant |
not provided [RCV003414617] |
Chr1:201069161 [GRCh38]
Chr1:201038289 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.1860G>A (p.Met620Ile) |
single nucleotide variant |
not provided [RCV003414618] |
Chr1:201075583 [GRCh38]
Chr1:201044711 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.5207C>T (p.Ala1736Val) |
single nucleotide variant |
CACNA1S-related condition [RCV003399971]|Hypokalemic periodic paralysis, type 1 [RCV003778212] |
Chr1:201040641 [GRCh38]
Chr1:201009769 [GRCh37]
Chr1:1q32.1 |
likely benign|uncertain significance |
| NM_000069.3(CACNA1S):c.2501A>G (p.His834Arg) |
single nucleotide variant |
not provided [RCV003441466] |
Chr1:201069186 [GRCh38]
Chr1:201038314 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.2491-17C>A |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV003778163]|not specified [RCV003388467] |
Chr1:201069213 [GRCh38]
Chr1:201038341 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.3864G>A (p.Met1288Ile) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV003780400] |
Chr1:201052646 [GRCh38]
Chr1:201021774 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.5587G>A (p.Gly1863Ser) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV003792238] |
Chr1:201039866 [GRCh38]
Chr1:201008994 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.744G>A (p.Thr248=) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV003783294] |
Chr1:201089414 [GRCh38]
Chr1:201058542 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.523C>A (p.Leu175Met) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV003784893] |
Chr1:201091990 [GRCh38]
Chr1:201061118 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.4410G>A (p.Leu1470=) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV003797474] |
Chr1:201048613 [GRCh38]
Chr1:201017741 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.5010T>C (p.Tyr1670=) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV003786996] |
Chr1:201043319 [GRCh38]
Chr1:201012447 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.5226+1G>A |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV003782120] |
Chr1:201040621 [GRCh38]
Chr1:201009749 [GRCh37]
Chr1:1q32.1 |
likely pathogenic |
| NM_000069.3(CACNA1S):c.1953C>A (p.Ile651=) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV003784575] |
Chr1:201074616 [GRCh38]
Chr1:201043744 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.5553C>T (p.Leu1851=) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV003784936] |
Chr1:201039900 [GRCh38]
Chr1:201009028 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.5120C>T (p.Pro1707Leu) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV003784957] |
Chr1:201041518 [GRCh38]
Chr1:201010646 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.4322A>G (p.His1441Arg) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV003793825] |
Chr1:201049019 [GRCh38]
Chr1:201018147 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.4633G>A (p.Gly1545Ser) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV003790935] |
Chr1:201047150 [GRCh38]
Chr1:201016278 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.5550C>T (p.Asn1850=) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV003788613] |
Chr1:201039903 [GRCh38]
Chr1:201009031 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.4714C>T (p.Arg1572Cys) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV003780719] |
Chr1:201044411 [GRCh38]
Chr1:201013539 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.2276G>A (p.Arg759His) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV003782393] |
Chr1:201070356 [GRCh38]
Chr1:201039484 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.497C>T (p.Ala166Val) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV003782405] |
Chr1:201092016 [GRCh38]
Chr1:201061144 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.5049-12C>G |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV003792706] |
Chr1:201041601 [GRCh38]
Chr1:201010729 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.3582C>T (p.Ile1194=) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV003784884] |
Chr1:201058435 [GRCh38]
Chr1:201027563 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.5400G>A (p.Leu1800=) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV003784898] |
Chr1:201040053 [GRCh38]
Chr1:201009181 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.5222G>T (p.Cys1741Phe) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV003782449] |
Chr1:201040626 [GRCh38]
Chr1:201009754 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.4955G>A (p.Arg1652His) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV003782472] |
Chr1:201043374 [GRCh38]
Chr1:201012502 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.2874C>G (p.Thr958=) |
single nucleotide variant |
Malignant hyperthermia, susceptibility to, 5 [RCV003517861] |
Chr1:201062494 [GRCh38]
Chr1:201031622 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.2873C>T (p.Thr958Ile) |
single nucleotide variant |
Malignant hyperthermia, susceptibility to, 5 [RCV003517862] |
Chr1:201062495 [GRCh38]
Chr1:201031623 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.1561C>T (p.Pro521Ser) |
single nucleotide variant |
Malignant hyperthermia, susceptibility to, 5 [RCV003517864] |
Chr1:201077937 [GRCh38]
Chr1:201047065 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.2398T>C (p.Trp800Arg) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV003791365] |
Chr1:201069564 [GRCh38]
Chr1:201038692 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.2582G>A (p.Gly861Asp) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV003787371] |
Chr1:201066962 [GRCh38]
Chr1:201036090 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.4647G>C (p.Lys1549Asn) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV003788787] |
Chr1:201047136 [GRCh38]
Chr1:201016264 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.671A>G (p.Lys224Arg) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV003788846] |
Chr1:201091663 [GRCh38]
Chr1:201060791 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.4113+5G>C |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV003782463] |
Chr1:201050979 [GRCh38]
Chr1:201020107 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.2550+16G>A |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV003796443] |
Chr1:201069121 [GRCh38]
Chr1:201038249 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.3414+17A>G |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV003805832] |
Chr1:201060641 [GRCh38]
Chr1:201029769 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.1944C>T (p.Gly648=) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV003786440] |
Chr1:201075499 [GRCh38]
Chr1:201044627 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.541+19G>A |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV003787325] |
Chr1:201091953 [GRCh38]
Chr1:201061081 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.2907-5C>T |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV003782553] |
Chr1:201062095 [GRCh38]
Chr1:201031223 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.3631G>A (p.Gly1211Arg) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV003783807] |
Chr1:201054540 [GRCh38]
Chr1:201023668 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.3047G>A (p.Trp1016Ter) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV003805655] |
Chr1:201061950 [GRCh38]
Chr1:201031078 [GRCh37]
Chr1:1q32.1 |
pathogenic |
| NM_000069.3(CACNA1S):c.33G>A (p.Leu11=) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV003788979] |
Chr1:201112307 [GRCh38]
Chr1:201081435 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.4810C>T (p.Leu1604=) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV003792907] |
Chr1:201043519 [GRCh38]
Chr1:201012647 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.2945A>C (p.Gln982Pro) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV003807566] |
Chr1:201062052 [GRCh38]
Chr1:201031180 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.3954-16C>T |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV003784001] |
Chr1:201051159 [GRCh38]
Chr1:201020287 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.5227-8T>C |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV003785226] |
Chr1:201040382 [GRCh38]
Chr1:201009510 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.3018_3021del (p.Leu1007fs) |
deletion |
Hypokalemic periodic paralysis, type 1 [RCV003781588] |
Chr1:201061976..201061979 [GRCh38]
Chr1:201031104..201031107 [GRCh37]
Chr1:1q32.1 |
pathogenic |
| NM_000069.3(CACNA1S):c.5025T>C (p.His1675=) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV003796662] |
Chr1:201043304 [GRCh38]
Chr1:201012432 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.5229C>T (p.Cys1743=) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV003784235] |
Chr1:201040372 [GRCh38]
Chr1:201009500 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.4191T>C (p.His1397=) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV003784216] |
Chr1:201050439 [GRCh38]
Chr1:201019567 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.4236G>A (p.Glu1412=) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV003797826] |
Chr1:201050394 [GRCh38]
Chr1:201019522 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.4269G>C (p.Val1423=) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV003786480] |
Chr1:201049072 [GRCh38]
Chr1:201018200 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.58G>A (p.Val20Ile) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV003786493] |
Chr1:201112282 [GRCh38]
Chr1:201081410 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.57A>C (p.Pro19=) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV003797837] |
Chr1:201112283 [GRCh38]
Chr1:201081411 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.474C>T (p.Gly158=) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV003807884] |
Chr1:201092039 [GRCh38]
Chr1:201061167 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.2808C>T (p.Thr936=) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV003786645] |
Chr1:201065883 [GRCh38]
Chr1:201035011 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.900+9G>T |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV003797448] |
Chr1:201089249 [GRCh38]
Chr1:201058377 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.2223C>T (p.Phe741=) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV003792077] |
Chr1:201072759 [GRCh38]
Chr1:201041887 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.5448T>A (p.Asp1816Glu) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV003781837] |
Chr1:201040005 [GRCh38]
Chr1:201009133 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.3795+4C>T |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV003781858] |
Chr1:201053455 [GRCh38]
Chr1:201022583 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.1087C>T (p.Leu363Phe) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV003781861] |
Chr1:201085499 [GRCh38]
Chr1:201054627 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.2355C>A (p.Thr785=) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV003785730] |
Chr1:201070277 [GRCh38]
Chr1:201039405 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.2491-6C>T |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV003789626] |
Chr1:201069202 [GRCh38]
Chr1:201038330 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.3741G>A (p.Leu1247=) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV003781803] |
Chr1:201053513 [GRCh38]
Chr1:201022641 [GRCh37]
Chr1:1q32.1 |
benign |
| NM_000069.3(CACNA1S):c.901-15T>C |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV003793663] |
Chr1:201087944 [GRCh38]
Chr1:201057072 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.4349G>A (p.Gly1450Asp) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV003795668] |
Chr1:201048674 [GRCh38]
Chr1:201017802 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.5565G>A (p.Leu1855=) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV003805148] |
Chr1:201039888 [GRCh38]
Chr1:201009016 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.1827+11C>T |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV003780929] |
Chr1:201076909 [GRCh38]
Chr1:201046037 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.2416C>T (p.Leu806=) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV003795678] |
Chr1:201069546 [GRCh38]
Chr1:201038674 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.3953+11C>T |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV003795699] |
Chr1:201052546 [GRCh38]
Chr1:201021674 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.5280G>A (p.Gly1760=) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV003794495] |
Chr1:201040321 [GRCh38]
Chr1:201009449 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.5280G>T (p.Gly1760=) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV003789723] |
Chr1:201040321 [GRCh38]
Chr1:201009449 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.1779G>A (p.Arg593=) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV003781971] |
Chr1:201076968 [GRCh38]
Chr1:201046096 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.2814A>G (p.Leu938=) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV003784860] |
Chr1:201065877 [GRCh38]
Chr1:201035005 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.399-5del |
deletion |
Hypokalemic periodic paralysis, type 1 [RCV003789040] |
Chr1:201092119 [GRCh38]
Chr1:201061247 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.3954-18G>A |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV003782015] |
Chr1:201051161 [GRCh38]
Chr1:201020289 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.3857T>C (p.Met1286Thr) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV003781947] |
Chr1:201053213 [GRCh38]
Chr1:201022341 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.4079A>G (p.Tyr1360Cys) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV003804667] |
Chr1:201051018 [GRCh38]
Chr1:201020146 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.606G>C (p.Leu202=) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV003784818] |
Chr1:201091728 [GRCh38]
Chr1:201060856 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.2836G>C (p.Gly946Arg) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV003795736] |
Chr1:201065855 [GRCh38]
Chr1:201034983 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.4052C>T (p.Thr1351Ile) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV003795738] |
Chr1:201051045 [GRCh38]
Chr1:201020173 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.2907-3C>T |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV003804918] |
Chr1:201062093 [GRCh38]
Chr1:201031221 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.1585T>C (p.Cys529Arg) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV003784360] |
Chr1:201077913 [GRCh38]
Chr1:201047041 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.1752G>A (p.Arg584=) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV003795233] |
Chr1:201076995 [GRCh38]
Chr1:201046123 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.124A>T (p.Lys42Ter) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV003787594] |
Chr1:201112216 [GRCh38]
Chr1:201081344 [GRCh37]
Chr1:1q32.1 |
pathogenic |
| NM_000069.3(CACNA1S):c.3707G>A (p.Arg1236His) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV003787596] |
Chr1:201053547 [GRCh38]
Chr1:201022675 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.3315C>A (p.Asn1105Lys) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV003788391] |
Chr1:201060757 [GRCh38]
Chr1:201029885 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.3240G>T (p.Glu1080Asp) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV003789834] |
Chr1:201061282 [GRCh38]
Chr1:201030410 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.5049-6T>A |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV003790372] |
Chr1:201041595 [GRCh38]
Chr1:201010723 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.5543G>A (p.Cys1848Tyr) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV003782048] |
Chr1:201039910 [GRCh38]
Chr1:201009038 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.945C>T (p.Val315=) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV003806668] |
Chr1:201087885 [GRCh38]
Chr1:201057013 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.4114-7C>T |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV003785009] |
Chr1:201050523 [GRCh38]
Chr1:201019651 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.600C>T (p.Ala200=) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV003780505] |
Chr1:201091734 [GRCh38]
Chr1:201060862 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.4242-10C>T |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV003784910] |
Chr1:201049109 [GRCh38]
Chr1:201018237 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.4316G>A (p.Cys1439Tyr) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV003787719] |
Chr1:201049025 [GRCh38]
Chr1:201018153 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.514C>T (p.Pro172Ser) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV003781180] |
Chr1:201091999 [GRCh38]
Chr1:201061127 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.5020_5034dup (p.Ser1678_His1679insAsnHisSerAsnSer) |
duplication |
Hypokalemic periodic paralysis, type 1 [RCV003783012] |
Chr1:201043294..201043295 [GRCh38]
Chr1:201012422..201012423 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.267G>A (p.Leu89=) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV003804254] |
Chr1:201094013 [GRCh38]
Chr1:201063141 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.153G>A (p.Lys51=) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV003805514] |
Chr1:201110269 [GRCh38]
Chr1:201079397 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.5134+7C>T |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV003796114] |
Chr1:201041497 [GRCh38]
Chr1:201010625 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.2762T>C (p.Met921Thr) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV003806908] |
Chr1:201065929 [GRCh38]
Chr1:201035057 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.4040G>T (p.Gly1347Val) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV003786942] |
Chr1:201051057 [GRCh38]
Chr1:201020185 [GRCh37]
Chr1:1q32.1 |
benign |
| NM_000069.3(CACNA1S):c.3123G>A (p.Met1041Ile) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV003781195] |
Chr1:201061399 [GRCh38]
Chr1:201030527 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.4109T>A (p.Phe1370Tyr) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV003804927] |
Chr1:201050988 [GRCh38]
Chr1:201020116 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.2063+4A>T |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV003782352] |
Chr1:201074502 [GRCh38]
Chr1:201043630 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.4517T>G (p.Leu1506Trp) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV003784996] |
Chr1:201047551 [GRCh38]
Chr1:201016679 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.1394-4A>G |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV003779354]|Malignant hyperthermia, susceptibility to, 5 [RCV003517865] |
Chr1:201078108 [GRCh38]
Chr1:201047236 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.4640G>A (p.Arg1547Gln) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV003788732] |
Chr1:201047143 [GRCh38]
Chr1:201016271 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.1953C>T (p.Ile651=) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV003792714] |
Chr1:201074616 [GRCh38]
Chr1:201043744 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.2004G>C (p.Glu668Asp) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV003792731] |
Chr1:201074565 [GRCh38]
Chr1:201043693 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.1021C>G (p.Arg341Gly) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV003795984] |
Chr1:201085565 [GRCh38]
Chr1:201054693 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.2853+17G>A |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV003796473] |
Chr1:201065821 [GRCh38]
Chr1:201034949 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.5127G>C (p.Arg1709Ser) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV003787252] |
Chr1:201041511 [GRCh38]
Chr1:201010639 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.5227-6G>A |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV003790101] |
Chr1:201040380 [GRCh38]
Chr1:201009508 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.2463C>T (p.Pro821=) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV003781315] |
Chr1:201069499 [GRCh38]
Chr1:201038627 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.2906+12A>G |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV003785167] |
Chr1:201062450 [GRCh38]
Chr1:201031578 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.4543+19G>A |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV003789529] |
Chr1:201047506 [GRCh38]
Chr1:201016634 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.399-16C>T |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV003790700] |
Chr1:201092130 [GRCh38]
Chr1:201061258 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.948C>T (p.Thr316=) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV003781378] |
Chr1:201087882 [GRCh38]
Chr1:201057010 [GRCh37]
Chr1:1q32.1 |
benign |
| NM_000069.3(CACNA1S):c.466G>A (p.Gly156Arg) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV003794834] |
Chr1:201092047 [GRCh38]
Chr1:201061175 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.5595_5600del (p.Gln1865_Thr1867delinsHis) |
deletion |
Hypokalemic periodic paralysis, type 1 [RCV003784537] |
Chr1:201039853..201039858 [GRCh38]
Chr1:201008981..201008986 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.1380G>C (p.Leu460=) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV003784554] |
Chr1:201083175 [GRCh38]
Chr1:201052303 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.4405G>T (p.Ala1469Ser) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV003788106] |
Chr1:201048618 [GRCh38]
Chr1:201017746 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.517C>T (p.Leu173Phe) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV003788850] |
Chr1:201091996 [GRCh38]
Chr1:201061124 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.2385C>A (p.Ile795=) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV003789562] |
Chr1:201069577 [GRCh38]
Chr1:201038705 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.3468C>G (p.Ala1156=) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV003781712] |
Chr1:201059246 [GRCh38]
Chr1:201028374 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.2921T>G (p.Val974Gly) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV003792047] |
Chr1:201062076 [GRCh38]
Chr1:201031204 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.5380C>T (p.Arg1794Ter) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV003782547] |
Chr1:201040073 [GRCh38]
Chr1:201009201 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.1620-17G>A |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV003792843] |
Chr1:201077144 [GRCh38]
Chr1:201046272 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.5293_5294delinsAG (p.Glu1765Arg) |
indel |
Hypokalemic periodic paralysis, type 1 [RCV003794197] |
Chr1:201040307..201040308 [GRCh38]
Chr1:201009435..201009436 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.2294A>G (p.Gln765Arg) |
single nucleotide variant |
not provided [RCV003490534] |
Chr1:201070338 [GRCh38]
Chr1:201039466 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.2491-2A>G |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV003787650] |
Chr1:201069198 [GRCh38]
Chr1:201038326 [GRCh37]
Chr1:1q32.1 |
likely pathogenic |
| NM_000069.3(CACNA1S):c.4924G>A (p.Val1642Ile) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV003789322] |
Chr1:201043405 [GRCh38]
Chr1:201012533 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.2652A>G (p.Gly884=) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV003780641] |
Chr1:201066892 [GRCh38]
Chr1:201036020 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.770A>G (p.Asn257Ser) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV003784230] |
Chr1:201089388 [GRCh38]
Chr1:201058516 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.3270G>A (p.Gln1090=) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV003792646] |
Chr1:201060802 [GRCh38]
Chr1:201029930 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.2157+20A>T |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV003792665] |
Chr1:201073529 [GRCh38]
Chr1:201042657 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.259-6C>T |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV003805304] |
Chr1:201094027 [GRCh38]
Chr1:201063155 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.4185C>T (p.Gly1395=) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV003785207] |
Chr1:201050445 [GRCh38]
Chr1:201019573 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.3623C>T (p.Ser1208Phe) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV003785229] |
Chr1:201054548 [GRCh38]
Chr1:201023676 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.3499C>T (p.Leu1167Phe) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV003786041] |
Chr1:201059215 [GRCh38]
Chr1:201028343 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.3167T>C (p.Met1056Thr) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV003796383] |
Chr1:201061355 [GRCh38]
Chr1:201030483 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.4184del (p.Gly1395fs) |
deletion |
Hypokalemic periodic paralysis, type 1 [RCV003786056] |
Chr1:201050446 [GRCh38]
Chr1:201019574 [GRCh37]
Chr1:1q32.1 |
pathogenic |
| NM_000069.3(CACNA1S):c.5134+14G>A |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV003790039] |
Chr1:201041490 [GRCh38]
Chr1:201010618 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.4441+17A>G |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV003781263] |
Chr1:201048565 [GRCh38]
Chr1:201017693 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.3510G>A (p.Met1170Ile) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV003785237] |
Chr1:201059204 [GRCh38]
Chr1:201028332 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.150G>C (p.Trp50Cys) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV003792830] |
Chr1:201112190 [GRCh38]
Chr1:201081318 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.1232+18G>C |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV003788706] |
Chr1:201084932 [GRCh38]
Chr1:201054060 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.81A>G (p.Pro27=) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV003788719] |
Chr1:201112259 [GRCh38]
Chr1:201081387 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.2228-13del |
deletion |
Hypokalemic periodic paralysis, type 1 [RCV003794530] |
Chr1:201070417 [GRCh38]
Chr1:201039545 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.1949-5C>T |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV003784333] |
Chr1:201074625 [GRCh38]
Chr1:201043753 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.4182G>A (p.Leu1394=) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV003795609] |
Chr1:201050448 [GRCh38]
Chr1:201019576 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.4059C>T (p.Gly1353=) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV003795504] |
Chr1:201051038 [GRCh38]
Chr1:201020166 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.2167G>A (p.Asp723Asn) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV003796043]|not specified [RCV003988149] |
Chr1:201072815 [GRCh38]
Chr1:201041943 [GRCh37]
Chr1:1q32.1 |
likely benign|uncertain significance |
| NM_000069.3(CACNA1S):c.630T>C (p.Tyr210=) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV003786465] |
Chr1:201091704 [GRCh38]
Chr1:201060832 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.3727C>T (p.Leu1243=) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV003792947] |
Chr1:201053527 [GRCh38]
Chr1:201022655 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.1084G>A (p.Asp362Asn) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV003780173] |
Chr1:201085502 [GRCh38]
Chr1:201054630 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.1840del (p.Glu614fs) |
deletion |
Hypokalemic periodic paralysis, type 1 [RCV003794678] |
Chr1:201075603 [GRCh38]
Chr1:201044731 [GRCh37]
Chr1:1q32.1 |
pathogenic |
| NM_000069.3(CACNA1S):c.579G>T (p.Met193Ile) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV003790152] |
Chr1:201091755 [GRCh38]
Chr1:201060883 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.4442-13T>G |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV003805882] |
Chr1:201047639 [GRCh38]
Chr1:201016767 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.3680G>A (p.Ser1227Asn) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV003786130] |
Chr1:201053574 [GRCh38]
Chr1:201022702 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.663G>A (p.Lys221=) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV003788066] |
Chr1:201091671 [GRCh38]
Chr1:201060799 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.5169G>A (p.Lys1723=) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV003784900] |
Chr1:201040679 [GRCh38]
Chr1:201009807 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.3525+19G>T |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV003795682] |
Chr1:201059170 [GRCh38]
Chr1:201028298 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.1455G>T (p.Gly485=) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV003785786] |
Chr1:201078043 [GRCh38]
Chr1:201047171 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.787G>A (p.Gly263Ser) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV003796462] |
Chr1:201089371 [GRCh38]
Chr1:201058499 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.2907-7G>C |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV003796493] |
Chr1:201062097 [GRCh38]
Chr1:201031225 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.1233-18C>T |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV003784439] |
Chr1:201083340 [GRCh38]
Chr1:201052468 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.5563C>T (p.Leu1855=) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV003796517] |
Chr1:201039890 [GRCh38]
Chr1:201009018 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.2491-12C>T |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV003786186] |
Chr1:201069208 [GRCh38]
Chr1:201038336 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.2360+10C>T |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV003796873] |
Chr1:201070262 [GRCh38]
Chr1:201039390 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.3933A>G (p.Gln1311=) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV003786549] |
Chr1:201052577 [GRCh38]
Chr1:201021705 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.4312T>C (p.Phe1438Leu) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV003787392] |
Chr1:201049029 [GRCh38]
Chr1:201018157 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.618G>A (p.Met206Ile) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV003784483] |
Chr1:201091716 [GRCh38]
Chr1:201060844 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.3567del (p.Ile1189fs) |
deletion |
Hypokalemic periodic paralysis, type 1 [RCV003783051] |
Chr1:201058450 [GRCh38]
Chr1:201027578 [GRCh37]
Chr1:1q32.1 |
pathogenic |
| NM_000069.3(CACNA1S):c.1948+17A>T |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV003785848] |
Chr1:201075478 [GRCh38]
Chr1:201044606 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.1228T>C (p.Phe410Leu) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV003806763] |
Chr1:201084954 [GRCh38]
Chr1:201054082 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.2955G>A (p.Leu985=) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV003788293] |
Chr1:201062042 [GRCh38]
Chr1:201031170 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.3796-10C>G |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV003796841] |
Chr1:201053284 [GRCh38]
Chr1:201022412 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.3505C>T (p.Leu1169Phe) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV003789814] |
Chr1:201059209 [GRCh38]
Chr1:201028337 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.2668A>G (p.Ile890Val) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV003789820] |
Chr1:201066306 [GRCh38]
Chr1:201035434 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.1949-8_1986del |
deletion |
Hypokalemic periodic paralysis, type 1 [RCV003795347] |
Chr1:201074583..201074628 [GRCh38]
Chr1:201043711..201043756 [GRCh37]
Chr1:1q32.1 |
likely pathogenic |
| NM_000069.3(CACNA1S):c.3462T>A (p.Asn1154Lys) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV003805597] |
Chr1:201059252 [GRCh38]
Chr1:201028380 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.694+8C>A |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV003796594] |
Chr1:201091632 [GRCh38]
Chr1:201060760 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.3233A>T (p.Asn1078Ile) |
single nucleotide variant |
Malignant hyperthermia, susceptibility to, 5 [RCV003517859] |
Chr1:201061289 [GRCh38]
Chr1:201030417 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.2908G>A (p.Gly970Ser) |
single nucleotide variant |
Malignant hyperthermia, susceptibility to, 5 [RCV003517860] |
Chr1:201062089 [GRCh38]
Chr1:201031217 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.2361-9C>T |
single nucleotide variant |
Malignant hyperthermia, susceptibility to, 5 [RCV003517863] |
Chr1:201069610 [GRCh38]
Chr1:201038738 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.1030G>A (p.Ala344Thr) |
single nucleotide variant |
Malignant hyperthermia, susceptibility to, 5 [RCV003517866] |
Chr1:201085556 [GRCh38]
Chr1:201054684 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.293C>T (p.Ser98Leu) |
single nucleotide variant |
Malignant hyperthermia, susceptibility to, 5 [RCV003517867] |
Chr1:201093987 [GRCh38]
Chr1:201063115 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.535G>T (p.Val179Leu) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV003788357] |
Chr1:201091978 [GRCh38]
Chr1:201061106 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.4456G>A (p.Ala1486Thr) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV003780475] |
Chr1:201047612 [GRCh38]
Chr1:201016740 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.2228-16C>G |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV003794903] |
Chr1:201070420 [GRCh38]
Chr1:201039548 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.3219G>A (p.Glu1073=) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV003797179] |
Chr1:201061303 [GRCh38]
Chr1:201030431 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.5215G>A (p.Ala1739Thr) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV003788326] |
Chr1:201040633 [GRCh38]
Chr1:201009761 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.1902C>T (p.Gly634=) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV003784165] |
Chr1:201075541 [GRCh38]
Chr1:201044669 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.2157+11C>T |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV003788464] |
Chr1:201073538 [GRCh38]
Chr1:201042666 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.1828-14C>T |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV003784192] |
Chr1:201075629 [GRCh38]
Chr1:201044757 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.2222T>C (p.Phe741Ser) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV003784613] |
Chr1:201072760 [GRCh38]
Chr1:201041888 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.2657+10G>C |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV003785892] |
Chr1:201066877 [GRCh38]
Chr1:201036005 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.5219C>T (p.Pro1740Leu) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV003786732] |
Chr1:201040629 [GRCh38]
Chr1:201009757 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.2965del (p.Glu989fs) |
deletion |
Hypokalemic periodic paralysis, type 1 [RCV003790896] |
Chr1:201062032 [GRCh38]
Chr1:201031160 [GRCh37]
Chr1:1q32.1 |
pathogenic |
| NM_000069.3(CACNA1S):c.4668+20del |
deletion |
Hypokalemic periodic paralysis, type 1 [RCV003789020] |
Chr1:201047095 [GRCh38]
Chr1:201016223 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.2412C>T (p.Phe804=) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV003788498] |
Chr1:201069550 [GRCh38]
Chr1:201038678 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.1232+13C>T |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV003790401] |
Chr1:201084937 [GRCh38]
Chr1:201054065 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.1235G>A (p.Arg412Gln) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV003783317] |
Chr1:201083320 [GRCh38]
Chr1:201052448 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.2064-26_2064-15del |
deletion |
Hypokalemic periodic paralysis, type 1 [RCV003794209] |
Chr1:201073657..201073668 [GRCh38]
Chr1:201042785..201042796 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.3057G>A (p.Leu1019=) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV003781783] |
Chr1:201061465 [GRCh38]
Chr1:201030593 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.2550+11G>C |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV003788249] |
Chr1:201069126 [GRCh38]
Chr1:201038254 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.5290GAG[1] (p.Glu1765del) |
microsatellite |
Hypokalemic periodic paralysis, type 1 [RCV003792746] |
Chr1:201040306..201040308 [GRCh38]
Chr1:201009434..201009436 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.574_575del (p.Ala192fs) |
deletion |
Hypokalemic periodic paralysis, type 1 [RCV003793662] |
Chr1:201091759..201091760 [GRCh38]
Chr1:201060887..201060888 [GRCh37]
Chr1:1q32.1 |
pathogenic |
| NM_000069.3(CACNA1S):c.4460A>G (p.Asn1487Ser) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV003783375] |
Chr1:201047608 [GRCh38]
Chr1:201016736 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.5139C>T (p.Pro1713=) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV003783997]|not provided [RCV003885378] |
Chr1:201040709 [GRCh38]
Chr1:201009837 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.1732A>G (p.Met578Val) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV003787338] |
Chr1:201077015 [GRCh38]
Chr1:201046143 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.5514C>T (p.Ala1838=) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV003787381] |
Chr1:201039939 [GRCh38]
Chr1:201009067 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.825C>T (p.Phe275=) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV003788775] |
Chr1:201089333 [GRCh38]
Chr1:201058461 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.271T>C (p.Tyr91His) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV003783396] |
Chr1:201094009 [GRCh38]
Chr1:201063137 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.1119C>T (p.Gly373=) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV003781907] |
Chr1:201085467 [GRCh38]
Chr1:201054595 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.5004C>G (p.Val1668=) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV003789891] |
Chr1:201043325 [GRCh38]
Chr1:201012453 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.609C>G (p.Val203=) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV003787280] |
Chr1:201091725 [GRCh38]
Chr1:201060853 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.1728G>A (p.Leu576=) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV003788780] |
Chr1:201077019 [GRCh38]
Chr1:201046147 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.1150+15G>C |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV003793691] |
Chr1:201085421 [GRCh38]
Chr1:201054549 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.183C>A (p.Ile61=) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV003788924] |
Chr1:201110239 [GRCh38]
Chr1:201079367 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.2550+15T>C |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV003783450] |
Chr1:201069122 [GRCh38]
Chr1:201038250 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.3861+8G>A |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV003787255] |
Chr1:201053201 [GRCh38]
Chr1:201022329 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.1887G>T (p.Gly629=) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV003787263] |
Chr1:201075556 [GRCh38]
Chr1:201044684 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.1948+15G>A |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV003789286] |
Chr1:201075480 [GRCh38]
Chr1:201044608 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.2850C>T (p.Phe950=) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV003788944] |
Chr1:201065841 [GRCh38]
Chr1:201034969 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.4455G>A (p.Gln1485=) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV003791501] |
Chr1:201047613 [GRCh38]
Chr1:201016741 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.4634G>T (p.Gly1545Val) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV003787659] |
Chr1:201047149 [GRCh38]
Chr1:201016277 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.4442G>A (p.Gly1481Asp) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV003789314] |
Chr1:201047626 [GRCh38]
Chr1:201016754 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.5081C>G (p.Thr1694Arg) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV003782188] |
Chr1:201041557 [GRCh38]
Chr1:201010685 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.2821A>C (p.Met941Leu) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV003783825] |
Chr1:201065870 [GRCh38]
Chr1:201034998 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.877G>A (p.Gly293Arg) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV003792335] |
Chr1:201089281 [GRCh38]
Chr1:201058409 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.1406G>T (p.Arg469Leu) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV003787654] |
Chr1:201078092 [GRCh38]
Chr1:201047220 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.1936G>T (p.Val646Phe) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV003787677] |
Chr1:201075507 [GRCh38]
Chr1:201044635 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.4416C>T (p.Arg1472=) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV003789385] |
Chr1:201048607 [GRCh38]
Chr1:201017735 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.3676G>A (p.Glu1226Lys) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV003780710] |
Chr1:201053578 [GRCh38]
Chr1:201022706 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.1416G>A (p.Leu472=) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV003792948] |
Chr1:201078082 [GRCh38]
Chr1:201047210 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.1218A>T (p.Lys406Asn) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV003792339] |
Chr1:201084964 [GRCh38]
Chr1:201054092 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.4637A>G (p.Tyr1546Cys) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV003787646] |
Chr1:201047146 [GRCh38]
Chr1:201016274 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.3255+20G>A |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV003792522] |
Chr1:201061247 [GRCh38]
Chr1:201030375 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.3323A>G (p.Gln1108Arg) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV003792972] |
Chr1:201060749 [GRCh38]
Chr1:201029877 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.541+16C>A |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV003787923] |
Chr1:201091956 [GRCh38]
Chr1:201061084 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.853G>C (p.Val285Leu) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV003789331] |
Chr1:201089305 [GRCh38]
Chr1:201058433 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.355C>A (p.Arg119Ser) |
single nucleotide variant |
not provided [RCV003490533] |
Chr1:201093925 [GRCh38]
Chr1:201063053 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.1620-12C>A |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV003782723] |
Chr1:201077139 [GRCh38]
Chr1:201046267 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.5227-16T>C |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV003783127] |
Chr1:201040390 [GRCh38]
Chr1:201009518 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.2745+12C>T |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV003793430] |
Chr1:201066217 [GRCh38]
Chr1:201035345 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.1453G>A (p.Gly485Arg) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV003783135] |
Chr1:201078045 [GRCh38]
Chr1:201047173 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.4798-5C>G |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV003781475] |
Chr1:201043536 [GRCh38]
Chr1:201012664 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.1983G>A (p.Val661=) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV003780982] |
Chr1:201074586 [GRCh38]
Chr1:201043714 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.1828-3C>A |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV003793947] |
Chr1:201075618 [GRCh38]
Chr1:201044746 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.2227+3G>A |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV003792603] |
Chr1:201072752 [GRCh38]
Chr1:201041880 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.4094A>G (p.Tyr1365Cys) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV003783203] |
Chr1:201051003 [GRCh38]
Chr1:201020131 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.4420G>A (p.Ala1474Thr) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV003793486] |
Chr1:201048603 [GRCh38]
Chr1:201017731 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.3854G>A (p.Gly1285Asp) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV003783866] |
Chr1:201053216 [GRCh38]
Chr1:201022344 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.3076_3090del (p.Ser1026_Asp1030del) |
deletion |
Hypokalemic periodic paralysis, type 1 [RCV003783874] |
Chr1:201061432..201061446 [GRCh38]
Chr1:201030560..201030574 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.1995C>G (p.Ala665=) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV003781571] |
Chr1:201074574 [GRCh38]
Chr1:201043702 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.2854-33CCTC[7] |
microsatellite |
Hypokalemic periodic paralysis, type 1 [RCV003781586] |
Chr1:201062527..201062528 [GRCh38]
Chr1:201031655..201031656 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.4280G>A (p.Arg1427Lys) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV003790345] |
Chr1:201049061 [GRCh38]
Chr1:201018189 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.695-12T>C |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV003783722] |
Chr1:201089475 [GRCh38]
Chr1:201058603 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.2812C>T (p.Leu938=) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV003794080] |
Chr1:201065879 [GRCh38]
Chr1:201035007 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.2629G>A (p.Ala877Thr) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV003788912] |
Chr1:201066915 [GRCh38]
Chr1:201036043 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.399-17C>T |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV003786910] |
Chr1:201092131 [GRCh38]
Chr1:201061259 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.1619+11G>A |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV003781350] |
Chr1:201077868 [GRCh38]
Chr1:201046996 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.2745+15G>A |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV003813235] |
Chr1:201066214 [GRCh38]
Chr1:201035342 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.112A>T (p.Asn38Tyr) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV003809075] |
Chr1:201112228 [GRCh38]
Chr1:201081356 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.4308G>A (p.Gly1436=) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV003798940] |
Chr1:201049033 [GRCh38]
Chr1:201018161 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.3953+5G>T |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV003800024] |
Chr1:201052552 [GRCh38]
Chr1:201021680 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.2752G>A (p.Val918Met) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV003799125] |
Chr1:201065939 [GRCh38]
Chr1:201035067 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.2228-1G>A |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV003810338] |
Chr1:201070405 [GRCh38]
Chr1:201039533 [GRCh37]
Chr1:1q32.1 |
likely pathogenic |
| NM_000069.3(CACNA1S):c.2321C>T (p.Pro774Leu) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV003798190] |
Chr1:201070311 [GRCh38]
Chr1:201039439 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.100C>G (p.Leu34Val) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV003809494] |
Chr1:201112240 [GRCh38]
Chr1:201081368 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.2847C>T (p.Leu949=) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV003798250] |
Chr1:201065844 [GRCh38]
Chr1:201034972 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.3533T>A (p.Phe1178Tyr) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV003808484] |
Chr1:201058484 [GRCh38]
Chr1:201027612 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.1271del (p.Lys424fs) |
deletion |
Hypokalemic periodic paralysis, type 1 [RCV003813464] |
Chr1:201083284 [GRCh38]
Chr1:201052412 [GRCh37]
Chr1:1q32.1 |
pathogenic |
| NM_000069.3(CACNA1S):c.4242-4G>T |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV003798417] |
Chr1:201049103 [GRCh38]
Chr1:201018231 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.5064G>A (p.Arg1688=) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV003798418] |
Chr1:201041574 [GRCh38]
Chr1:201010702 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.5135-12T>G |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV003808644] |
Chr1:201040725 [GRCh38]
Chr1:201009853 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.2658-16C>T |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV003812851] |
Chr1:201066332 [GRCh38]
Chr1:201035460 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.4551G>A (p.Glu1517=) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV003808767] |
Chr1:201047232 [GRCh38]
Chr1:201016360 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.901-16C>T |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV003800813] |
Chr1:201087945 [GRCh38]
Chr1:201057073 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.2063+12C>A |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV003798695] |
Chr1:201074494 [GRCh38]
Chr1:201043622 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.4618C>T (p.Gln1540Ter) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV003817944] |
Chr1:201047165 [GRCh38]
Chr1:201016293 [GRCh37]
Chr1:1q32.1 |
pathogenic |
| NM_000069.3(CACNA1S):c.3795+15C>G |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV003799005] |
Chr1:201053444 [GRCh38]
Chr1:201022572 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.3053+11G>A |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV003815752] |
Chr1:201061933 [GRCh38]
Chr1:201031061 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.544C>T (p.Leu182=) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV003798515] |
Chr1:201091790 [GRCh38]
Chr1:201060918 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.258+17C>T |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV003799585] |
Chr1:201110147 [GRCh38]
Chr1:201079275 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.2228-14C>G |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV003810319] |
Chr1:201070418 [GRCh38]
Chr1:201039546 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.4001A>G (p.Tyr1334Cys) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV003818041] |
Chr1:201051096 [GRCh38]
Chr1:201020224 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.3256-16G>A |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV003809315] |
Chr1:201060832 [GRCh38]
Chr1:201029960 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.2841C>A (p.Val947=) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV003799639] |
Chr1:201065850 [GRCh38]
Chr1:201034978 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.3671C>G (p.Pro1224Arg) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV003799742] |
Chr1:201053583 [GRCh38]
Chr1:201022711 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.3410T>G (p.Met1137Arg) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV003799295] |
Chr1:201060662 [GRCh38]
Chr1:201029790 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.3667-7C>G |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV003813218] |
Chr1:201053594 [GRCh38]
Chr1:201022722 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.2991C>T (p.Phe997=) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV003798230] |
Chr1:201062006 [GRCh38]
Chr1:201031134 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.4596C>T (p.His1532=) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV003799806] |
Chr1:201047187 [GRCh38]
Chr1:201016315 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.462C>G (p.Ser154Arg) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV003810542] |
Chr1:201092051 [GRCh38]
Chr1:201061179 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.3666+17C>T |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV003809039] |
Chr1:201054488 [GRCh38]
Chr1:201023616 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.756C>T (p.Arg252=) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV003813522] |
Chr1:201089402 [GRCh38]
Chr1:201058530 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.1606T>C (p.Phe536Leu) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV003810293] |
Chr1:201077892 [GRCh38]
Chr1:201047020 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.3423C>T (p.Asn1141=) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV003815252] |
Chr1:201059291 [GRCh38]
Chr1:201028419 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.3255G>T (p.Gln1085His) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV003801708] |
Chr1:201061267 [GRCh38]
Chr1:201030395 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.2158-16del |
deletion |
Hypokalemic periodic paralysis, type 1 [RCV003812538] |
Chr1:201072840 [GRCh38]
Chr1:201041968 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.3796-3del |
deletion |
Hypokalemic periodic paralysis, type 1 [RCV003812634] |
Chr1:201053277 [GRCh38]
Chr1:201022405 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.3525+19G>C |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV003813045] |
Chr1:201059170 [GRCh38]
Chr1:201028298 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.399-5_399-3del |
deletion |
Hypokalemic periodic paralysis, type 1 [RCV003815699] |
Chr1:201092117..201092119 [GRCh38]
Chr1:201061245..201061247 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.3808G>A (p.Val1270Met) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV003813344] |
Chr1:201053262 [GRCh38]
Chr1:201022390 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.3796-18C>G |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV003815676] |
Chr1:201053292 [GRCh38]
Chr1:201022420 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.3159C>T (p.Ala1053=) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV003801478] |
Chr1:201061363 [GRCh38]
Chr1:201030491 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.3975G>A (p.Trp1325Ter) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV003810249] |
Chr1:201051122 [GRCh38]
Chr1:201020250 [GRCh37]
Chr1:1q32.1 |
pathogenic |
| NM_000069.3(CACNA1S):c.2907-9C>T |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV003808959] |
Chr1:201062099 [GRCh38]
Chr1:201031227 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.153-20C>T |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV003798981] |
Chr1:201110289 [GRCh38]
Chr1:201079417 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.1160C>G (p.Ser387Cys) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV003798584] |
Chr1:201085022 [GRCh38]
Chr1:201054150 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.2745+16G>A |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV003799300] |
Chr1:201066213 [GRCh38]
Chr1:201035341 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.3520G>A (p.Ala1174Thr) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV003813297] |
Chr1:201059194 [GRCh38]
Chr1:201028322 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.2906+18C>A |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV003800473] |
Chr1:201062444 [GRCh38]
Chr1:201031572 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.3796-9G>C |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV003800017] |
Chr1:201053283 [GRCh38]
Chr1:201022411 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.3054-9C>T |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV003809265] |
Chr1:201061477 [GRCh38]
Chr1:201030605 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.3862-17C>A |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV003798013] |
Chr1:201052665 [GRCh38]
Chr1:201021793 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.3054-16C>T |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV003800237] |
Chr1:201061484 [GRCh38]
Chr1:201030612 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.4441+15C>A |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV003798193] |
Chr1:201048567 [GRCh38]
Chr1:201017695 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.4242-20G>A |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV003803130] |
Chr1:201049119 [GRCh38]
Chr1:201018247 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.4362C>G (p.Pro1454=) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV003818156] |
Chr1:201048661 [GRCh38]
Chr1:201017789 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.2490+5C>G |
single nucleotide variant |
CACNA1S-related condition [RCV003939714] |
Chr1:201069467 [GRCh38]
Chr1:201038595 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.900+11G>A |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV003803847] |
Chr1:201089247 [GRCh38]
Chr1:201058375 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.1948+2T>C |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV003802641] |
Chr1:201075493 [GRCh38]
Chr1:201044621 [GRCh37]
Chr1:1q32.1 |
likely pathogenic |
| GRCh37/hg19 1q31.3-32.1(chr1:197216705-203683110)x1 |
copy number loss |
not specified [RCV003986384] |
Chr1:197216705..203683110 [GRCh37]
Chr1:1q31.3-32.1 |
likely pathogenic |
| GRCh37/hg19 1q32.1(chr1:199373229-204335027)x3 |
copy number gain |
not specified [RCV003986684] |
Chr1:199373229..204335027 [GRCh37]
Chr1:1q32.1 |
likely pathogenic |
| NM_000069.3(CACNA1S):c.1542G>A (p.Val514=) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV003803460] |
Chr1:201077956 [GRCh38]
Chr1:201047084 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.5345C>A (p.Pro1782Gln) |
single nucleotide variant |
Hypokalemic periodic paralysis, type 1 [RCV003802160] |
Chr1:201040256 [GRCh38]
Chr1:201009384 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.5253T>G (p.Pro1751=) |
single nucleotide variant |
CACNA1S-related condition [RCV003969373] |
Chr1:201040348 [GRCh38]
Chr1:201009476 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.2839G>T (p.Val947Phe) |
single nucleotide variant |
not provided [RCV003887108] |
Chr1:201065852 [GRCh38]
Chr1:201034980 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.3688A>G (p.Ile1230Val) |
single nucleotide variant |
CACNA1S-related condition [RCV003983490] |
Chr1:201053566 [GRCh38]
Chr1:201022694 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.5380C>A (p.Arg1794=) |
single nucleotide variant |
CACNA1S-related condition [RCV003983688] |
Chr1:201040073 [GRCh38]
Chr1:201009201 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.1926C>T (p.Ile642=) |
single nucleotide variant |
CACNA1S-related condition [RCV003961597] |
Chr1:201075517 [GRCh38]
Chr1:201044645 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.2360+8C>A |
single nucleotide variant |
CACNA1S-related condition [RCV003961997] |
Chr1:201070264 [GRCh38]
Chr1:201039392 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.912C>T (p.Ala304=) |
single nucleotide variant |
CACNA1S-related condition [RCV003921765] |
Chr1:201087918 [GRCh38]
Chr1:201057046 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.3541C>G (p.Pro1181Ala) |
single nucleotide variant |
CACNA1S-related condition [RCV003896599] |
Chr1:201058476 [GRCh38]
Chr1:201027604 [GRCh37]
Chr1:1q32.1 |
uncertain significance |
| NM_000069.3(CACNA1S):c.726A>G (p.Pro242=) |
single nucleotide variant |
CACNA1S-related condition [RCV003896928] |
Chr1:201089432 [GRCh38]
Chr1:201058560 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.1021C>A (p.Arg341=) |
single nucleotide variant |
CACNA1S-related condition [RCV003904322] |
Chr1:201085565 [GRCh38]
Chr1:201054693 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.2619G>A (p.Leu873=) |
single nucleotide variant |
CACNA1S-related condition [RCV003899737] |
Chr1:201066925 [GRCh38]
Chr1:201036053 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.4365G>A (p.Leu1455=) |
single nucleotide variant |
CACNA1S-related condition [RCV003897141] |
Chr1:201048658 [GRCh38]
Chr1:201017786 [GRCh37]
Chr1:1q32.1 |
likely benign |
| NM_000069.3(CACNA1S):c.1944C>A (p.Gly648=) |
single nucleotide variant |
not provided [RCV003886134] |
Chr1:201075499 [GRCh38]
Chr1:201044627 [GRCh37]
Chr1:1q32.1 |
likely benign |
