| 402516763 | CV2936441 | microsatellite | NM_018323.4(PI4K2B):c.978+20TA[11] | not provided [RCV003663007] | likely benign | 4 | 25260611 | 25260620 | Human | | name |
| 401864859 | CV2757247 | single nucleotide variant | NM_018425.4(PI4K2A):c.4G>A (p.Asp2Asn) | not specified [RCV004338841] | uncertain significance | 10 | 97640746 | 97640746 | Human | | name |
| 10411821 | CV205439 | single nucleotide variant | NM_018323.4(PI4K2B):c.10C>A (p.Pro4Thr) | Abnormality of neuronal migration [RCV000201382] | benign | 4 | 25234173 | 25234173 | Human | 1 | name |
| 401730938 | CV2686794 | single nucleotide variant | NM_018323.4(PI4K2B):c.20C>G (p.Pro7Arg) | not specified [RCV004301975] | uncertain significance | 4 | 25234183 | 25234183 | Human | | name |
| 156111257 | CV2261723 | single nucleotide variant | NM_018425.4(PI4K2A):c.44C>T (p.Pro15Leu) | not specified [RCV004126024] | uncertain significance | 10 | 97640786 | 97640786 | Human | | name |
| 329375770 | CV2441115 | single nucleotide variant | NM_018323.4(PI4K2B):c.49A>T (p.Ser17Cys) | not specified [RCV004263519] | uncertain significance | 4 | 25234212 | 25234212 | Human | | name |
| 405002802 | CV3184703 | single nucleotide variant | NM_018425.4(PI4K2A):c.65C>A (p.Ser22Ter) | Neurodevelopmental disorder with hyperkinetic movements, seizures, and structural brain abnormalities [RCV003882761] | pathogenic | 10 | 97640807 | 97640807 | Human | 1 | name |
| 597767189 | CV3569339 | single nucleotide variant | NM_018425.4(PI4K2A):c.68G>A (p.Gly23Asp) | not specified [RCV004850417] | uncertain significance | 10 | 97640810 | 97640810 | Human | | name |
| 597739688 | CV3569342 | single nucleotide variant | NM_018323.4(PI4K2B):c.53C>G (p.Pro18Arg) | not specified [RCV004844336] | uncertain significance | 4 | 25234216 | 25234216 | Human | | name |
| 8631152 | CV86308 | single nucleotide variant | NM_018323.3(PI4K2B):c.747C>G (p.Leu249=) | Malignant melanoma [RCV000066399] | not provided | 4 | 25256665 | 25256665 | Human | | name |
| 8633810 | CV89026 | single nucleotide variant | NM_018425.3(PI4K2A):c.909C>T (p.Ile303=) | Malignant melanoma [RCV000069123] | not provided | 10 | 97656961 | 97656961 | Human | | name |
| 156174272 | CV2194413 | single nucleotide variant | NM_018323.4(PI4K2B):c.246C>G (p.Asp82Glu) | not specified [RCV004079514] | uncertain significance | 4 | 25234409 | 25234409 | Human | | name |
| 156064213 | CV2200108 | single nucleotide variant | NM_018323.4(PI4K2B):c.124G>T (p.Ala42Ser) | not specified [RCV004069682] | uncertain significance | 4 | 25234287 | 25234287 | Human | | name |
| 156018716 | CV2233237 | single nucleotide variant | NM_018425.4(PI4K2A):c.179C>T (p.Pro60Leu) | not specified [RCV004105628] | uncertain significance | 10 | 97640921 | 97640921 | Human | | name |
| 156087663 | CV2241341 | single nucleotide variant | NM_018323.4(PI4K2B):c.188A>G (p.Glu63Gly) | not specified [RCV004102478] | uncertain significance | 4 | 25234351 | 25234351 | Human | | name |
| 156192933 | CV2299929 | single nucleotide variant | NM_018425.4(PI4K2A):c.254C>T (p.Ala85Val) | not specified [RCV004149064] | uncertain significance | 10 | 97640996 | 97640996 | Human | | name |
| 156195471 | CV2367136 | single nucleotide variant | NM_018323.4(PI4K2B):c.115C>G (p.Arg39Gly) | not specified [RCV004215574] | uncertain significance | 4 | 25234278 | 25234278 | Human | | name |
| 156265617 | CV2372272 | single nucleotide variant | NM_018323.4(PI4K2B):c.221C>T (p.Ser74Phe) | not specified [RCV004217048] | uncertain significance | 4 | 25234384 | 25234384 | Human | | name |
| 401722805 | CV2677106 | single nucleotide variant | NM_018323.4(PI4K2B):c.188A>C (p.Glu63Ala) | not specified [RCV004295743] | uncertain significance | 4 | 25234351 | 25234351 | Human | | name |
| 401888139 | CV2791275 | single nucleotide variant | NM_018323.4(PI4K2B):c.183C>G (p.Asp61Glu) | not specified [RCV004356903] | uncertain significance | 4 | 25234346 | 25234346 | Human | | name |
| 401888140 | CV2791276 | single nucleotide variant | NM_018323.4(PI4K2B):c.263T>C (p.Val88Ala) | not specified [RCV004356904] | uncertain significance | 4 | 25234426 | 25234426 | Human | | name |
| 405777944 | CV3375736 | single nucleotide variant | NM_018425.4(PI4K2A):c.206C>T (p.Ala69Val) | not specified [RCV004503442] | uncertain significance | 10 | 97640948 | 97640948 | Human | | name |
| 407530546 | CV3463347 | single nucleotide variant | NM_018425.4(PI4K2A):c.257C>T (p.Ala86Val) | not specified [RCV004657109] | uncertain significance | 10 | 97640999 | 97640999 | Human | | name |
| 597767179 | CV3569335 | single nucleotide variant | NM_018425.4(PI4K2A):c.220A>T (p.Thr74Ser) | not specified [RCV004850415] | uncertain significance | 10 | 97640962 | 97640962 | Human | | name |
| 597739679 | CV3569340 | single nucleotide variant | NM_018323.4(PI4K2B):c.209A>T (p.Asp70Val) | not specified [RCV004844334] | uncertain significance | 4 | 25234372 | 25234372 | Human | | name |
| 597739684 | CV3569341 | single nucleotide variant | NM_018323.4(PI4K2B):c.133A>G (p.Ser45Gly) | not specified [RCV004844335] | uncertain significance | 4 | 25234296 | 25234296 | Human | | name |
| 597767194 | CV3569345 | single nucleotide variant | NM_018323.4(PI4K2B):c.274A>G (p.Ile92Val) | not specified [RCV004850418] | likely benign | 4 | 25252326 | 25252326 | Human | | name |
| 598250393 | CV3996888 | single nucleotide variant | NM_018425.4(PI4K2A):c.236C>T (p.Ala79Val) | not specified [RCV005384595] | uncertain significance | 10 | 97640978 | 97640978 | Human | | name |
| 10411853 | CV205440 | single nucleotide variant | NM_018323.4(PI4K2B):c.861G>T (p.Gln287His) | Abnormality of neuronal migration [RCV000201422] | benign|uncertain significance | 4 | 25259141 | 25259141 | Human | 1 | name |
| 156277240 | CV2209881 | single nucleotide variant | NM_018323.4(PI4K2B):c.428T>C (p.Ile143Thr) | not specified [RCV004076336] | uncertain significance | 4 | 25255069 | 25255069 | Human | | name |
| 155945632 | CV2238011 | single nucleotide variant | NM_018323.4(PI4K2B):c.607A>G (p.Ile203Val) | not specified [RCV004111042] | uncertain significance | 4 | 25255248 | 25255248 | Human | | name |
| 155923717 | CV2248593 | single nucleotide variant | NM_018425.4(PI4K2A):c.485T>G (p.Leu162Arg) | not specified [RCV004121782] | uncertain significance | 10 | 97650990 | 97650990 | Human | | name |
| 156335593 | CV2272939 | single nucleotide variant | NM_018323.4(PI4K2B):c.413A>T (p.Asp138Val) | not specified [RCV004135828] | uncertain significance | 4 | 25252465 | 25252465 | Human | | name |
| 155945314 | CV2292046 | single nucleotide variant | NM_018425.4(PI4K2A):c.791T>C (p.Val264Ala) | not specified [RCV004160323] | uncertain significance | 10 | 97656843 | 97656843 | Human | | name |
| 156167104 | CV2330173 | single nucleotide variant | NM_018425.4(PI4K2A):c.835G>A (p.Ala279Thr) | not specified [RCV004185658] | uncertain significance | 10 | 97656887 | 97656887 | Human | | name |
| 155991361 | CV2355414 | single nucleotide variant | NM_018323.4(PI4K2B):c.355G>A (p.Val119Ile) | not specified [RCV004205270] | uncertain significance | 4 | 25252407 | 25252407 | Human | | name |
| 155926663 | CV2395765 | single nucleotide variant | NM_018425.4(PI4K2A):c.436A>G (p.Arg146Gly) | not specified [RCV004235294] | uncertain significance | 10 | 97650941 | 97650941 | Human | | name |
| 329359585 | CV2446336 | single nucleotide variant | NM_018425.4(PI4K2A):c.629G>A (p.Arg210His) | not specified [RCV004249464] | uncertain significance | 10 | 97651134 | 97651134 | Human | | name |
| 329393606 | CV2453464 | single nucleotide variant | NM_018425.4(PI4K2A):c.874C>G (p.Leu292Val) | not specified [RCV004267066] | uncertain significance | 10 | 97656926 | 97656926 | Human | | name |
| 329392738 | CV2471413 | single nucleotide variant | NM_018323.4(PI4K2B):c.656A>G (p.Tyr219Cys) | not specified [RCV004280414] | uncertain significance | 4 | 25256574 | 25256574 | Human | | name |
| 401772472 | CV2712751 | single nucleotide variant | NM_018425.4(PI4K2A):c.427C>T (p.Pro143Ser) | not specified [RCV004310096] | uncertain significance | 10 | 97641169 | 97641169 | Human | | name |
| 401764038 | CV2725410 | single nucleotide variant | NM_018425.4(PI4K2A):c.886C>T (p.Arg296Trp) | not specified [RCV004320049] | uncertain significance | 10 | 97656938 | 97656938 | Human | | name |
| 401887084 | CV2777088 | single nucleotide variant | NM_018323.4(PI4K2B):c.445C>A (p.Pro149Thr) | not specified [RCV004351873] | uncertain significance | 4 | 25255086 | 25255086 | Human | | name |
| 401946920 | CV2842082 | single nucleotide variant | NM_018323.4(PI4K2B):c.807G>C (p.Trp269Cys) | Autism [RCV003454378] | uncertain significance | 4 | 25259087 | 25259087 | Human | 2 | name |
| 405003224 | CV3184704 | single nucleotide variant | NM_018425.4(PI4K2A):c.925C>T (p.Arg309Ter) | Neurodevelopmental disorder with hyperkinetic movements, seizures, and structural brain abnormalities [RCV003882762] | pathogenic | 10 | 97662909 | 97662909 | Human | 1 | name |
| 405777950 | CV3375737 | single nucleotide variant | NM_018425.4(PI4K2A):c.862C>T (p.Arg288Trp) | not specified [RCV004503443] | uncertain significance | 10 | 97656914 | 97656914 | Human | | name |
| 405777956 | CV3375738 | single nucleotide variant | NM_018425.4(PI4K2A):c.982C>T (p.Arg328Trp) | not specified [RCV004503444] | uncertain significance | 10 | 97662966 | 97662966 | Human | | name |
| 405777981 | CV3375742 | single nucleotide variant | NM_018323.4(PI4K2B):c.805T>C (p.Trp269Arg) | not specified [RCV004503448] | uncertain significance | 4 | 25259085 | 25259085 | Human | | name |
| 405777987 | CV3375743 | single nucleotide variant | NM_018323.4(PI4K2B):c.955T>C (p.Cys319Arg) | not specified [RCV004503449] | uncertain significance | 4 | 25260568 | 25260568 | Human | | name |
| 407530549 | CV3463348 | single nucleotide variant | NM_018425.4(PI4K2A):c.964A>G (p.Met322Val) | not specified [RCV004657110] | uncertain significance | 10 | 97662948 | 97662948 | Human | | name |
| 407530551 | CV3463349 | single nucleotide variant | NM_018425.4(PI4K2A):c.717G>T (p.Glu239Asp) | not specified [RCV004657111] | uncertain significance | 10 | 97656365 | 97656365 | Human | | name |
| 407511630 | CV3463350 | single nucleotide variant | NM_018425.4(PI4K2A):c.363C>G (p.Ile121Met) | not specified [RCV004648110] | uncertain significance | 10 | 97641105 | 97641105 | Human | | name |
| 407511634 | CV3463351 | single nucleotide variant | NM_018425.4(PI4K2A):c.793G>A (p.Glu265Lys) | not specified [RCV004648111] | uncertain significance | 10 | 97656845 | 97656845 | Human | | name |
| 407511638 | CV3463352 | single nucleotide variant | NM_018323.4(PI4K2B):c.959A>G (p.Glu320Gly) | not specified [RCV004648112] | likely benign | 4 | 25260572 | 25260572 | Human | | name |
| 407511648 | CV3463355 | single nucleotide variant | NM_018323.4(PI4K2B):c.424A>G (p.Lys142Glu) | not specified [RCV004648114] | uncertain significance | 4 | 25255065 | 25255065 | Human | | name |
| 597739669 | CV3569336 | single nucleotide variant | NM_018425.4(PI4K2A):c.863G>A (p.Arg288Gln) | not specified [RCV004844332] | uncertain significance | 10 | 97656915 | 97656915 | Human | | name |
| 597739697 | CV3569344 | single nucleotide variant | NM_018323.4(PI4K2B):c.692A>T (p.Lys231Met) | not specified [RCV004844338] | uncertain significance | 4 | 25256610 | 25256610 | Human | | name |
| 598250385 | CV3996887 | single nucleotide variant | NM_018425.4(PI4K2A):c.434G>A (p.Gly145Glu) | not specified [RCV005384594] | uncertain significance | 10 | 97641176 | 97641176 | Human | | name |
| 598250414 | CV3996891 | single nucleotide variant | NM_018323.4(PI4K2B):c.569C>T (p.Ala190Val) | not specified [RCV005384598] | uncertain significance | 4 | 25255210 | 25255210 | Human | | name |
| 598250422 | CV3996892 | single nucleotide variant | NM_018323.4(PI4K2B):c.605G>C (p.Ser202Thr) | not specified [RCV005384599] | uncertain significance | 4 | 25255246 | 25255246 | Human | | name |
| 155984109 | CV2241081 | single nucleotide variant | NM_018425.4(PI4K2A):c.1180G>A (p.Val394Ile) | not specified [RCV004104121] | uncertain significance | 10 | 97666533 | 97666533 | Human | | name |
| 156366548 | CV2269725 | single nucleotide variant | NM_018323.4(PI4K2B):c.1303G>A (p.Gly435Arg) | not specified [RCV004126977] | uncertain significance | 4 | 25277044 | 25277044 | Human | | name |
| 155920899 | CV2340358 | single nucleotide variant | NM_018323.4(PI4K2B):c.1100T>G (p.Leu367Arg) | not specified [RCV004197090] | uncertain significance | 4 | 25268464 | 25268464 | Human | | name |
| 156121510 | CV2354257 | single nucleotide variant | NM_018425.4(PI4K2A):c.1313A>G (p.Lys438Arg) | not specified [RCV004206679] | uncertain significance | 10 | 97673615 | 97673615 | Human | | name |
| 155995448 | CV2375818 | single nucleotide variant | NM_018323.4(PI4K2B):c.1136G>A (p.Arg379Lys) | not specified [RCV004224399] | likely benign | 4 | 25268500 | 25268500 | Human | | name |
| 401762184 | CV2714046 | single nucleotide variant | NM_018425.4(PI4K2A):c.1348A>G (p.Ile450Val) | not specified [RCV004315449] | uncertain significance | 10 | 97673650 | 97673650 | Human | | name |
| 405777968 | CV3375740 | single nucleotide variant | NM_018323.4(PI4K2B):c.1039C>G (p.Leu347Val) | not specified [RCV004503446] | uncertain significance | 4 | 25263810 | 25263810 | Human | | name |
| 407530552 | CV3463354 | single nucleotide variant | NM_018323.4(PI4K2B):c.1351C>T (p.Arg451Cys) | not specified [RCV004657112] | uncertain significance | 4 | 25277092 | 25277092 | Human | | name |
| 597767184 | CV3569337 | single nucleotide variant | NM_018425.4(PI4K2A):c.1410G>C (p.Gln470His) | not specified [RCV004850416] | uncertain significance | 10 | 97673712 | 97673712 | Human | | name |
| 597739693 | CV3569343 | single nucleotide variant | NM_018323.4(PI4K2B):c.1088A>C (p.His363Pro) | not specified [RCV004844337] | uncertain significance | 4 | 25268452 | 25268452 | Human | | name |
| 598250400 | CV3996889 | single nucleotide variant | NM_018323.4(PI4K2B):c.1217A>G (p.Asp406Gly) | not specified [RCV005384596] | uncertain significance | 4 | 25269148 | 25269148 | Human | | name |
| 598250406 | CV3996890 | single nucleotide variant | NM_018323.4(PI4K2B):c.1027A>G (p.Ile343Val) | not specified [RCV005384597] | uncertain significance | 4 | 25263798 | 25263798 | Human | | name |
