| 151768050 | CV1345378 | single nucleotide variant | NM_153682.3(PIGP):c.-9C>G | not provided [RCV001863808] | uncertain significance | 21 | 37072524 | 37072524 | Human | | name |
| 152103272 | CV1548546 | single nucleotide variant | NM_153682.3(PIGP):c.-7A>G | not provided [RCV002079264] | likely benign | 21 | 37072522 | 37072522 | Human | | name |
| 152085697 | CV1633564 | single nucleotide variant | NM_153682.3(PIGP):c.-7A>T | not provided [RCV002113358] | likely benign | 21 | 37072522 | 37072522 | Human | | name |
| 156227536 | CV1955853 | single nucleotide variant | NM_153682.3(PIGP):c.-8C>T | not provided [RCV002575755] | uncertain significance | 21 | 37072523 | 37072523 | Human | | name |
| 126726166 | CV1018749 | single nucleotide variant | NM_153682.3(PIGP):c.-20T>G | Developmental and epileptic encephalopathy, 55 [RCV001331816]|Inborn genetic diseases [RCV002546509]|not provided [RCV001871826] | uncertain significance | 21 | 37072535 | 37072535 | Human | 2 | name |
| 151744033 | CV1405243 | single nucleotide variant | NM_153682.3(PIGP):c.-17C>T | not provided [RCV001912210] | uncertain significance | 21 | 37072532 | 37072532 | Human | | name |
| 151763348 | CV1499316 | single nucleotide variant | NM_153682.3(PIGP):c.-12G>A | Inborn genetic diseases [RCV004038960]|not provided [RCV001863352] | uncertain significance | 21 | 37072527 | 37072527 | Human | 1 | name |
| 156014185 | CV2009038 | duplication | NM_153682.3(PIGP):c.-13dup | not provided [RCV002690677] | uncertain significance | 21 | 37072527 | 37072528 | Human | | name |
| 152029455 | CV1653241 | variation | NM_153682.3(PIGP):c.-22-26= | not provided [RCV002085809] | benign | 21 | 37072563 | 37072563 | Human | | name |
| 156359113 | CV1925366 | single nucleotide variant | NM_153682.3(PIGP):c.83-4A>G | not provided [RCV002651504] | likely benign | 21 | 37069628 | 37069628 | Human | | name |
| 597839251 | CV3736993 | single nucleotide variant | NM_153682.3(PIGP):c.83-3C>T | not provided [RCV005064473] | uncertain significance | 21 | 37069627 | 37069627 | Human | | name |
| 151859007 | CV1343892 | single nucleotide variant | NM_153682.3(PIGP):c.-22-7T>A | Inborn genetic diseases [RCV004044759]|not provided [RCV002034133] | uncertain significance | 21 | 37072544 | 37072544 | Human | 1 | name |
| 151803510 | CV1351824 | single nucleotide variant | NM_153682.3(PIGP):c.156-2A>G | not provided [RCV001974124] | uncertain significance | 21 | 37067382 | 37067382 | Human | | name |
| 152152930 | CV1545198 | single nucleotide variant | NM_153682.3(PIGP):c.82+15G>A | not provided [RCV002139799] | likely benign | 21 | 37072419 | 37072419 | Human | | name |
| 152101937 | CV1547044 | single nucleotide variant | NM_153682.3(PIGP):c.274+8T>C | not provided [RCV002151914] | likely benign | 21 | 37067254 | 37067254 | Human | | name |
| 152170760 | CV1592571 | single nucleotide variant | NM_153682.3(PIGP):c.82+11T>C | not provided [RCV002161878] | likely benign | 21 | 37072423 | 37072423 | Human | | name |
| 152072911 | CV1609662 | single nucleotide variant | NM_153682.3(PIGP):c.156-6T>C | not provided [RCV002129837] | benign | 21 | 37067386 | 37067386 | Human | | name |
| 152144255 | CV1651639 | single nucleotide variant | NM_153682.3(PIGP):c.82+15G>T | not provided [RCV002138579] | likely benign | 21 | 37072419 | 37072419 | Human | | name |
| 156419849 | CV1967472 | single nucleotide variant | NM_153682.3(PIGP):c.156-7T>A | not provided [RCV002613095] | likely benign | 21 | 37067387 | 37067387 | Human | | name |
| 156322695 | CV1992307 | single nucleotide variant | NM_153682.3(PIGP):c.82+18G>C | not provided [RCV002649356] | likely benign | 21 | 37072416 | 37072416 | Human | | name |
| 156282852 | CV2051425 | single nucleotide variant | NM_153682.3(PIGP):c.156-9C>T | not provided [RCV002832900] | likely benign | 21 | 37067389 | 37067389 | Human | | name |
| 156309552 | CV2150212 | single nucleotide variant | NM_153682.3(PIGP):c.82+18G>A | not provided [RCV003028497] | likely benign | 21 | 37072416 | 37072416 | Human | | name |
| 156287705 | CV2192129 | duplication | NM_153682.3(PIGP):c.83-18dup | not provided [RCV003045010] | benign | 21 | 37069641 | 37069642 | Human | | name |
| 405168343 | CV2854025 | single nucleotide variant | NM_153682.3(PIGP):c.275-6T>C | not provided [RCV003541966] | likely benign | 21 | 37065718 | 37065718 | Human | | name |
| 405222774 | CV2976217 | single nucleotide variant | NM_153682.3(PIGP):c.275-7C>A | not provided [RCV003680846] | likely benign | 21 | 37065719 | 37065719 | Human | | name |
| 405115786 | CV2996472 | single nucleotide variant | NM_153682.3(PIGP):c.275-4A>G | not provided [RCV003723342] | likely benign | 21 | 37065716 | 37065716 | Human | | name |
| 405219071 | CV3135768 | single nucleotide variant | NM_153682.3(PIGP):c.274+9A>G | not provided [RCV003824393] | likely benign | 21 | 37067253 | 37067253 | Human | | name |
| 597877553 | CV3813324 | single nucleotide variant | NM_153682.3(PIGP):c.83-13T>C | not provided [RCV005149260] | likely benign | 21 | 37069637 | 37069637 | Human | | name |
| 151804117 | CV1352770 | single nucleotide variant | NM_153682.3(PIGP):c.-22-48G>C | not provided [RCV001899335] | uncertain significance | 21 | 37072585 | 37072585 | Human | | name |
| 151709459 | CV1375885 | single nucleotide variant | NM_153682.3(PIGP):c.-22-34C>T | not provided [RCV001963992] | uncertain significance | 21 | 37072571 | 37072571 | Human | | name |
| 151879942 | CV1388348 | single nucleotide variant | NM_153682.3(PIGP):c.-22-47G>A | not provided [RCV001982386] | uncertain significance | 21 | 37072584 | 37072584 | Human | | name |
| 151732034 | CV1419375 | single nucleotide variant | NM_153682.3(PIGP):c.-22-41C>G | Inborn genetic diseases [RCV004651850]|not provided [RCV001946150] | likely benign|uncertain significance | 21 | 37072578 | 37072578 | Human | 1 | name |
| 151879500 | CV1419433 | single nucleotide variant | NM_153682.3(PIGP):c.-22-22T>C | not provided [RCV001982328] | uncertain significance | 21 | 37072559 | 37072559 | Human | | name |
| 151891631 | CV1502807 | single nucleotide variant | NM_153682.3(PIGP):c.-22-50A>G | not provided [RCV001943441] | uncertain significance | 21 | 37072587 | 37072587 | Human | | name |
| 152038417 | CV1525085 | single nucleotide variant | NM_153682.3(PIGP):c.-22-33A>G | not provided [RCV002165321] | likely benign | 21 | 37072570 | 37072570 | Human | | name |
| 152088772 | CV1539854 | deletion | NM_153682.3(PIGP):c.274+12del | not provided [RCV002131780] | likely benign | 21 | 37067250 | 37067250 | Human | | name |
| 152171296 | CV1552686 | single nucleotide variant | NM_153682.3(PIGP):c.274+11A>G | not provided [RCV002143401] | likely benign | 21 | 37067251 | 37067251 | Human | | name |
| 152119995 | CV1576125 | single nucleotide variant | NM_153682.3(PIGP):c.275-20T>A | not provided [RCV002197918] | likely benign | 21 | 37065732 | 37065732 | Human | | name |
| 152143475 | CV1579664 | single nucleotide variant | NM_153682.3(PIGP):c.-22-24G>A | not provided [RCV002084474] | likely benign | 21 | 37072561 | 37072561 | Human | | name |
| 152140966 | CV1613939 | single nucleotide variant | NM_153682.3(PIGP):c.-22-30G>T | not provided [RCV002084150] | likely benign | 21 | 37072567 | 37072567 | Human | | name |
| 152073642 | CV1615480 | single nucleotide variant | NM_153682.3(PIGP):c.-22-12C>T | not provided [RCV002091929] | likely benign | 21 | 37072549 | 37072549 | Human | | name |
| 152166200 | CV1620837 | single nucleotide variant | NM_153682.3(PIGP):c.156-16A>C | not provided [RCV002181886] | likely benign | 21 | 37067396 | 37067396 | Human | | name |
| 152146708 | CV1635531 | single nucleotide variant | NM_153682.3(PIGP):c.-22-44C>T | PIGP-related disorder [RCV003973329]|not provided [RCV002201345] | benign | 21 | 37072581 | 37072581 | Human | 1 | name , trait , alternate_id |
| 152142764 | CV1640700 | single nucleotide variant | NM_153682.3(PIGP):c.-22-36C>T | not provided [RCV002178277] | likely benign | 21 | 37072573 | 37072573 | Human | | name |
| 152122900 | CV1641023 | single nucleotide variant | NM_153682.3(PIGP):c.-22-45G>A | not provided [RCV002098406] | likely benign | 21 | 37072582 | 37072582 | Human | | name |
| 155985284 | CV1979561 | single nucleotide variant | NM_153682.3(PIGP):c.-22-25C>G | Inborn genetic diseases [RCV003308184]|not provided [RCV002617780] | uncertain significance | 21 | 37072562 | 37072562 | Human | 1 | name |
| 156078570 | CV2083583 | single nucleotide variant | NM_153682.3(PIGP):c.-22-49T>C | not provided [RCV002847309] | uncertain significance | 21 | 37072586 | 37072586 | Human | | name |
| 155914229 | CV2145203 | single nucleotide variant | NM_153682.3(PIGP):c.-22-36C>A | not provided [RCV002991549] | uncertain significance | 21 | 37072573 | 37072573 | Human | | name |
| 155921132 | CV2148421 | single nucleotide variant | NM_153682.3(PIGP):c.155+14A>G | not provided [RCV003013194] | likely benign | 21 | 37069538 | 37069538 | Human | | name |
| 155991249 | CV2148997 | single nucleotide variant | NM_153682.3(PIGP):c.-22-47G>C | not provided [RCV002996579] | uncertain significance | 21 | 37072584 | 37072584 | Human | | name |
| 155947962 | CV2151012 | single nucleotide variant | NM_153682.3(PIGP):c.156-11C>T | not provided [RCV003014683] | likely benign | 21 | 37067391 | 37067391 | Human | | name |
| 405230585 | CV2904892 | single nucleotide variant | NM_153682.3(PIGP):c.274+18G>C | not provided [RCV003555316] | likely benign | 21 | 37067244 | 37067244 | Human | | name |
| 405222768 | CV2976218 | single nucleotide variant | NM_153682.3(PIGP):c.275-13T>C | not provided [RCV003680847] | likely benign | 21 | 37065725 | 37065725 | Human | | name |
| 405222761 | CV2976219 | single nucleotide variant | NM_153682.3(PIGP):c.275-15G>T | not provided [RCV003680848] | likely benign | 21 | 37065727 | 37065727 | Human | | name |
| 405177638 | CV3148629 | single nucleotide variant | NM_153682.3(PIGP):c.275-14G>A | not provided [RCV003858406] | likely benign | 21 | 37065726 | 37065726 | Human | | name |
| 405289108 | CV3204982 | single nucleotide variant | NM_153682.3(PIGP):c.-22-57T>C | PIGP-related disorder [RCV003961613] | likely benign | 21 | 37072594 | 37072594 | Human | | name , trait , alternate_id |
| 597925875 | CV3808792 | single nucleotide variant | NM_153682.3(PIGP):c.274+13A>G | not provided [RCV005156307] | likely benign | 21 | 37067249 | 37067249 | Human | | name |
| 597962350 | CV3809148 | single nucleotide variant | NM_153682.3(PIGP):c.-22-18T>C | not provided [RCV005164050] | likely benign | 21 | 37072555 | 37072555 | Human | | name |
| 597831157 | CV3820269 | single nucleotide variant | NM_153682.3(PIGP):c.-22-30G>A | not provided [RCV005170046] | likely benign | 21 | 37072567 | 37072567 | Human | | name |
| 14703859 | CV654921 | duplication | NM_153682.3(PIGP):c.-22-15_-18dup | not specified [RCV000825435] | uncertain significance | 21 | 37072532 | 37072533 | Human | | name |
| 156378649 | CV1953736 | microsatellite | NM_153682.3(PIGP):c.-22-3_-22-2del | not provided [RCV002583008] | uncertain significance | 21 | 37072539 | 37072540 | Human | | name |
| 597945179 | CV3776798 | single nucleotide variant | NM_153682.3(PIGP):c.9A>G (p.Glu3=) | not provided [RCV005119654] | likely benign | 21 | 37072507 | 37072507 | Human | | name |
| 402496127 | CV3005817 | single nucleotide variant | NM_153682.3(PIGP):c.15A>C (p.Ser5=) | not provided [RCV003688028] | likely benign | 21 | 37072501 | 37072501 | Human | | name |
| 405186008 | CV3040470 | single nucleotide variant | NM_153682.3(PIGP):c.21G>C (p.Ser7=) | not provided [RCV003706021] | likely benign | 21 | 37072495 | 37072495 | Human | | name |
| 151852047 | CV1448232 | single nucleotide variant | NM_153682.3(PIGP):c.4G>T (p.Val2Leu) | Inborn genetic diseases [RCV002556316]|not provided [RCV001922926] | uncertain significance | 21 | 37072512 | 37072512 | Human | 1 | name |
| 152064555 | CV1535824 | single nucleotide variant | NM_153682.3(PIGP):c.66C>T (p.Ser22=) | not provided [RCV002168454] | likely benign | 21 | 37072450 | 37072450 | Human | | name |
| 152157731 | CV1630615 | single nucleotide variant | NM_153682.3(PIGP):c.78C>A (p.Gly26=) | PIGP-related disorder [RCV003923626]|not provided [RCV002122661] | benign|likely benign | 21 | 37072438 | 37072438 | Human | 1 | name , trait , alternate_id |
| 156405208 | CV1994292 | single nucleotide variant | NM_153682.3(PIGP):c.48C>T (p.Gly16=) | not provided [RCV002658250] | likely benign | 21 | 37072468 | 37072468 | Human | | name |
| 12854345 | CV384447 | single nucleotide variant | NM_153682.3(PIGP):c.2T>C (p.Met1Thr) | Developmental and epileptic encephalopathy [RCV000449500]|Developmental and epileptic encephalopathy, 55 [RCV000496825]|PIGP-related disorder [RCV004758690]|See cases [RCV002252129]|not provided [RCV001851116] | pathogenic|likely pathogenic|uncertain significance | 21 | 37072514 | 37072514 | Human | 2 | name , trait , alternate_id |
| 151829968 | CV1423569 | deletion | NM_153682.3(PIGP):c.91del (p.Leu31fs) | not provided [RCV001976555] | uncertain significance | 21 | 37069616 | 37069616 | Human | | name |
| 152067210 | CV1534598 | single nucleotide variant | NM_153682.3(PIGP):c.264T>C (p.His88=) | not provided [RCV002110949] | likely benign | 21 | 37067272 | 37067272 | Human | | name |
| 152176346 | CV1541627 | single nucleotide variant | NM_153682.3(PIGP):c.105T>C (p.Phe35=) | not provided [RCV002164491] | likely benign | 21 | 37069602 | 37069602 | Human | | name |
| 152061997 | CV1558452 | single nucleotide variant | NM_153682.3(PIGP):c.189T>C (p.Leu63=) | not provided [RCV002128442] | likely benign | 21 | 37067347 | 37067347 | Human | | name |
| 152094778 | CV1599375 | single nucleotide variant | NM_153682.3(PIGP):c.210C>T (p.Tyr70=) | not provided [RCV002094689] | likely benign | 21 | 37067326 | 37067326 | Human | | name |
| 152126097 | CV1665879 | single nucleotide variant | NM_153682.3(PIGP):c.180C>A (p.Val60=) | not provided [RCV002198692] | likely benign | 21 | 37067356 | 37067356 | Human | | name |
| 156408367 | CV1957813 | single nucleotide variant | NM_153682.3(PIGP):c.177T>C (p.Pro59=) | not provided [RCV002586495] | likely benign | 21 | 37067359 | 37067359 | Human | | name |
| 156399881 | CV1982185 | single nucleotide variant | NM_153682.3(PIGP):c.252C>T (p.Leu84=) | not provided [RCV002635868] | likely benign | 21 | 37067284 | 37067284 | Human | | name |
| 155907372 | CV2077431 | single nucleotide variant | NM_153682.3(PIGP):c.243C>A (p.Thr81=) | not provided [RCV002858238] | likely benign | 21 | 37067293 | 37067293 | Human | | name |
| 156137955 | CV2129160 | single nucleotide variant | NM_153682.3(PIGP):c.111T>G (p.Pro37=) | PIGP-related disorder [RCV004758898]|not provided [RCV002954118] | likely benign | 21 | 37069596 | 37069596 | Human | 1 | name , trait , alternate_id |
| 156105432 | CV2160906 | single nucleotide variant | NM_153682.3(PIGP):c.282T>C (p.Tyr94=) | not provided [RCV003038737] | likely benign | 21 | 37065705 | 37065705 | Human | | name |
| 329377798 | CV2450115 | single nucleotide variant | NM_153682.3(PIGP):c.27G>T (p.Leu9Phe) | Inborn genetic diseases [RCV003186517] | uncertain significance | 21 | 37072489 | 37072489 | Human | 1 | name |
| 402480856 | CV2911031 | single nucleotide variant | NM_153682.3(PIGP):c.186C>T (p.Leu62=) | not provided [RCV003572062] | likely benign | 21 | 37067350 | 37067350 | Human | | name |
| 405164156 | CV3160405 | single nucleotide variant | NM_153682.3(PIGP):c.243C>T (p.Thr81=) | not provided [RCV003857284] | likely benign | 21 | 37067293 | 37067293 | Human | | name |
| 402522835 | CV3175767 | single nucleotide variant | NM_153682.3(PIGP):c.291T>C (p.Asn97=) | not provided [RCV003879867] | likely benign | 21 | 37065696 | 37065696 | Human | | name |
| 597934416 | CV3777045 | single nucleotide variant | NM_153682.3(PIGP):c.14C>A (p.Ser5Ter) | not provided [RCV005117204] | uncertain significance | 21 | 37072502 | 37072502 | Human | | name |
| 597920359 | CV3781240 | single nucleotide variant | NM_153682.3(PIGP):c.177T>G (p.Pro59=) | not provided [RCV005130122] | likely benign | 21 | 37067359 | 37067359 | Human | | name |
| 21073223 | CV792008 | single nucleotide variant | NM_153682.3(PIGP):c.22C>G (p.Pro8Ala) | Developmental and epileptic encephalopathy, 55 [RCV000990349]|not provided [RCV001858722] | uncertain significance | 21 | 37072494 | 37072494 | Human | 1 | name |
| 151754513 | CV1343219 | deletion | NM_153682.3(PIGP):c.290del (p.Asn97fs) | not provided [RCV002043621] | conflicting interpretations of pathogenicity|uncertain significance | 21 | 37065697 | 37065697 | Human | | name |
| 151812982 | CV1371678 | single nucleotide variant | NM_153682.3(PIGP):c.83T>G (p.Ile28Arg) | Inborn genetic diseases [RCV002557713]|not provided [RCV001933391] | uncertain significance | 21 | 37069624 | 37069624 | Human | 1 | name |
| 151859061 | CV1389537 | single nucleotide variant | NM_153682.3(PIGP):c.94G>A (p.Val32Met) | Inborn genetic diseases [RCV004953200]|not provided [RCV001905050] | uncertain significance | 21 | 37069613 | 37069613 | Human | 1 | name |
| 151778387 | CV1463317 | single nucleotide variant | NM_153682.3(PIGP):c.59T>C (p.Phe20Ser) | not provided [RCV001875126] | uncertain significance | 21 | 37072457 | 37072457 | Human | | name |
| 151734097 | CV1512520 | single nucleotide variant | NM_153682.3(PIGP):c.88T>A (p.Tyr30Asn) | not provided [RCV002021597] | uncertain significance | 21 | 37069619 | 37069619 | Human | | name |
| 152065784 | CV1601523 | single nucleotide variant | NM_153682.3(PIGP):c.52G>A (p.Val18Ile) | not provided [RCV002168633] | benign | 21 | 37072464 | 37072464 | Human | | name |
| 152063749 | CV1606494 | single nucleotide variant | NM_153682.3(PIGP):c.381C>T (p.Ala127=) | not provided [RCV002209027] | likely benign | 21 | 37065606 | 37065606 | Human | | name |
| 156089911 | CV1994264 | single nucleotide variant | NM_153682.3(PIGP):c.82A>G (p.Ile28Val) | not provided [RCV002639183] | uncertain significance | 21 | 37072434 | 37072434 | Human | | name |
| 156356871 | CV2006604 | single nucleotide variant | NM_153682.3(PIGP):c.55C>T (p.Leu19Phe) | not provided [RCV002675986] | uncertain significance | 21 | 37072461 | 37072461 | Human | | name |
| 155955244 | CV2069852 | single nucleotide variant | NM_153682.3(PIGP):c.345T>C (p.Ser115=) | not provided [RCV002816481] | likely benign | 21 | 37065642 | 37065642 | Human | | name |
| 156403025 | CV2189695 | single nucleotide variant | NM_153682.3(PIGP):c.62T>C (p.Leu21Ser) | not provided [RCV003052512] | uncertain significance | 21 | 37072454 | 37072454 | Human | | name |
| 155986285 | CV2233974 | single nucleotide variant | NM_153682.3(PIGP):c.71A>G (p.Gln24Arg) | Inborn genetic diseases [RCV002732913] | uncertain significance | 21 | 37072445 | 37072445 | Human | 1 | name |
| 405041850 | CV3064077 | single nucleotide variant | NM_153682.3(PIGP):c.309C>T (p.Tyr103=) | not provided [RCV003739958] | likely benign | 21 | 37065678 | 37065678 | Human | | name |
| 405203545 | CV3143922 | single nucleotide variant | NM_153682.3(PIGP):c.318G>A (p.Glu106=) | not provided [RCV003844712] | likely benign | 21 | 37065669 | 37065669 | Human | | name |
| 405779754 | CV3372468 | single nucleotide variant | NM_153682.3(PIGP):c.49T>C (p.Phe17Leu) | Inborn genetic diseases [RCV004503737] | uncertain significance | 21 | 37072467 | 37072467 | Human | 1 | name |
| 597858605 | CV3769648 | single nucleotide variant | NM_153682.3(PIGP):c.378A>G (p.Ala126=) | not provided [RCV005105690] | likely benign | 21 | 37065609 | 37065609 | Human | | name |
| 15180069 | CV728902 | single nucleotide variant | NM_153682.3(PIGP):c.369C>T (p.Phe123=) | not provided [RCV000885437] | benign|likely benign | 21 | 37065618 | 37065618 | Human | | name |
| 15158082 | CV728903 | single nucleotide variant | NM_153682.3(PIGP):c.327A>C (p.Pro109=) | not provided [RCV000880941] | benign | 21 | 37065660 | 37065660 | Human | | name |
| 151854271 | CV1344311 | single nucleotide variant | NM_153682.3(PIGP):c.239G>A (p.Ser80Asn) | not provided [RCV001923196] | uncertain significance | 21 | 37067297 | 37067297 | Human | | name |
| 151868673 | CV1345638 | single nucleotide variant | NM_153682.3(PIGP):c.214C>T (p.Leu72Phe) | Inborn genetic diseases [RCV004953278]|not provided [RCV001924922] | uncertain significance | 21 | 37067322 | 37067322 | Human | 1 | name |
| 151825249 | CV1373416 | single nucleotide variant | NM_153682.3(PIGP):c.116C>T (p.Ser39Phe) | not provided [RCV001934529] | uncertain significance | 21 | 37069591 | 37069591 | Human | | name |
| 151789835 | CV1397133 | single nucleotide variant | NM_153682.3(PIGP):c.115T>C (p.Ser39Pro) | Inborn genetic diseases [RCV004656733]|not provided [RCV001951942] | uncertain significance | 21 | 37069592 | 37069592 | Human | 1 | name |
| 151802333 | CV1404933 | single nucleotide variant | NM_153682.3(PIGP):c.199G>A (p.Val67Ile) | not provided [RCV001932428] | uncertain significance | 21 | 37067337 | 37067337 | Human | | name |
| 151890519 | CV1405214 | single nucleotide variant | NM_153682.3(PIGP):c.211G>A (p.Val71Met) | not provided [RCV001888431] | uncertain significance | 21 | 37067325 | 37067325 | Human | | name |
| 151810060 | CV1417299 | single nucleotide variant | NM_153682.3(PIGP):c.181T>C (p.Tyr61His) | not provided [RCV002028882] | uncertain significance | 21 | 37067355 | 37067355 | Human | | name |
| 151837233 | CV1445147 | single nucleotide variant | NM_153682.3(PIGP):c.226A>T (p.Ile76Phe) | Inborn genetic diseases [RCV004042467]|not provided [RCV001994324] | uncertain significance | 21 | 37067310 | 37067310 | Human | 1 | name |
| 151849715 | CV1453258 | single nucleotide variant | NM_153682.3(PIGP):c.277A>G (p.Asn93Asp) | not provided [RCV002033000] | uncertain significance | 21 | 37065710 | 37065710 | Human | | name |
| 151745679 | CV1461105 | single nucleotide variant | NM_153682.3(PIGP):c.292C>T (p.Gln98Ter) | not provided [RCV001871487] | uncertain significance | 21 | 37065695 | 37065695 | Human | | name |
| 151879461 | CV1490858 | single nucleotide variant | NM_153682.3(PIGP):c.197T>C (p.Ile66Thr) | not provided [RCV001940811] | uncertain significance | 21 | 37067339 | 37067339 | Human | | name |
| 151888335 | CV1517044 | single nucleotide variant | NM_153682.3(PIGP):c.284C>A (p.Ala95Glu) | Inborn genetic diseases [RCV005382369]|not provided [RCV002038381] | uncertain significance | 21 | 37065703 | 37065703 | Human | 1 | name |
| 155745491 | CV1771570 | single nucleotide variant | NM_153682.3(PIGP):c.167T>G (p.Val56Gly) | not provided [RCV002303351] | uncertain significance | 21 | 37067369 | 37067369 | Human | | name |
| 155940010 | CV1913572 | single nucleotide variant | NM_153682.3(PIGP):c.253G>A (p.Asp85Asn) | not provided [RCV002615566] | uncertain significance | 21 | 37067283 | 37067283 | Human | | name |
| 156022883 | CV2025521 | single nucleotide variant | NM_153682.3(PIGP):c.182A>G (p.Tyr61Cys) | not provided [RCV002735459] | uncertain significance | 21 | 37067354 | 37067354 | Human | | name |
| 155916668 | CV2029808 | single nucleotide variant | NM_153682.3(PIGP):c.237G>A (p.Met79Ile) | not provided [RCV002750501] | uncertain significance | 21 | 37067299 | 37067299 | Human | | name |
| 156037879 | CV2047741 | single nucleotide variant | NM_153682.3(PIGP):c.215T>C (p.Leu72Pro) | Inborn genetic diseases [RCV004064771]|not provided [RCV002781379] | uncertain significance | 21 | 37067321 | 37067321 | Human | 1 | name |
| 156281811 | CV2049991 | single nucleotide variant | NM_153682.3(PIGP):c.173T>C (p.Leu58Ser) | not provided [RCV002807015] | uncertain significance | 21 | 37067363 | 37067363 | Human | | name |
| 156156669 | CV2098783 | single nucleotide variant | NM_153682.3(PIGP):c.233T>C (p.Met78Thr) | not provided [RCV002890835] | uncertain significance | 21 | 37067303 | 37067303 | Human | | name |
| 155977392 | CV2147555 | single nucleotide variant | NM_153682.3(PIGP):c.259A>T (p.Ile87Phe) | not provided [RCV003033715] | uncertain significance | 21 | 37067277 | 37067277 | Human | | name |
| 405690992 | CV3227470 | single nucleotide variant | NM_153682.3(PIGP):c.176C>T (p.Pro59Leu) | Developmental and epileptic encephalopathy, 55 [RCV003991815] | uncertain significance | 21 | 37067360 | 37067360 | Human | 1 | name |
| 597910675 | CV3830197 | single nucleotide variant | NM_153682.3(PIGP):c.181T>G (p.Tyr61Asp) | not provided [RCV005182767] | uncertain significance | 21 | 37067355 | 37067355 | Human | | name |
| 12854352 | CV384446 | deletion | NM_153682.3(PIGP):c.384del (p.Glu129fs) | Developmental and epileptic encephalopathy [RCV000449561]|Developmental and epileptic encephalopathy, 55 [RCV000496365]|not provided [RCV001543513] | pathogenic|likely pathogenic|likely benign|uncertain significance | 21 | 37065603 | 37065603 | Human | 2 | name |
| 15173166 | CV717203 | single nucleotide variant | NM_153682.3(PIGP):c.281A>G (p.Tyr94Cys) | not provided [RCV000972560] | benign | 21 | 37065706 | 37065706 | Human | | name |
| 15158087 | CV728904 | single nucleotide variant | NM_153682.3(PIGP):c.196A>G (p.Ile66Val) | not provided [RCV000880942] | benign | 21 | 37067340 | 37067340 | Human | | name |
| 151883698 | CV1338096 | single nucleotide variant | NM_153682.3(PIGP):c.361C>T (p.Gln121Ter) | not provided [RCV001962185] | uncertain significance | 21 | 37065626 | 37065626 | Human | | name |
| 151808822 | CV1384036 | duplication | NM_153682.3(PIGP):c.308dup (p.Tyr103Ter) | not provided [RCV001878058] | uncertain significance | 21 | 37065678 | 37065679 | Human | | name |
| 151846234 | CV1395266 | single nucleotide variant | NM_153682.3(PIGP):c.341T>C (p.Ile114Thr) | not provided [RCV001995371] | uncertain significance | 21 | 37065646 | 37065646 | Human | | name |
| 151880467 | CV1405888 | single nucleotide variant | NM_153682.3(PIGP):c.380C>T (p.Ala127Val) | not provided [RCV001940948] | uncertain significance | 21 | 37065607 | 37065607 | Human | | name |
| 151845060 | CV1438530 | single nucleotide variant | NM_153682.3(PIGP):c.332T>G (p.Leu111Ter) | not provided [RCV001957227] | uncertain significance | 21 | 37065655 | 37065655 | Human | | name |
| 151852247 | CV1459527 | single nucleotide variant | NM_153682.3(PIGP):c.352G>C (p.Glu118Gln) | not provided [RCV002033331] | uncertain significance | 21 | 37065635 | 37065635 | Human | | name |
| 152088030 | CV1638835 | single nucleotide variant | NM_153682.3(PIGP):c.336A>C (p.Arg112Ser) | PIGP-related disorder [RCV003978764]|not provided [RCV002150213] | benign | 21 | 37065651 | 37065651 | Human | 1 | name , trait , alternate_id |
| 156194790 | CV1900585 | single nucleotide variant | NM_153682.3(PIGP):c.343T>G (p.Ser115Ala) | not provided [RCV002574532] | uncertain significance | 21 | 37065644 | 37065644 | Human | | name |
| 156334681 | CV1905904 | single nucleotide variant | NM_153682.3(PIGP):c.376G>C (p.Ala126Pro) | not provided [RCV003090001] | uncertain significance | 21 | 37065611 | 37065611 | Human | | name |
| 156357115 | CV1962495 | single nucleotide variant | NM_153682.3(PIGP):c.307T>C (p.Tyr103His) | not provided [RCV002581467] | uncertain significance | 21 | 37065680 | 37065680 | Human | | name |
| 156185237 | CV1964587 | single nucleotide variant | NM_153682.3(PIGP):c.333A>T (p.Leu111Phe) | Inborn genetic diseases [RCV004651987]|not provided [RCV002574238] | uncertain significance | 21 | 37065654 | 37065654 | Human | 1 | name |
| 156012788 | CV2013098 | single nucleotide variant | NM_153682.3(PIGP):c.322A>G (p.Ile108Val) | not provided [RCV002734984] | uncertain significance | 21 | 37065665 | 37065665 | Human | | name |
| 155952856 | CV2169847 | single nucleotide variant | NM_153682.3(PIGP):c.322A>T (p.Ile108Phe) | Inborn genetic diseases [RCV003308435]|not provided [RCV003014942] | uncertain significance | 21 | 37065665 | 37065665 | Human | 1 | name |
| 407530660 | CV3463500 | single nucleotide variant | NM_153682.3(PIGP):c.376G>T (p.Ala126Ser) | Inborn genetic diseases [RCV004657174] | uncertain significance | 21 | 37065611 | 37065611 | Human | 1 | name |
| 597715887 | CV3579592 | single nucleotide variant | NM_153682.3(PIGP):c.334A>G (p.Arg112Gly) | Inborn genetic diseases [RCV004959776] | uncertain significance | 21 | 37065653 | 37065653 | Human | 1 | name |
| 597715894 | CV3579593 | single nucleotide variant | NM_153682.3(PIGP):c.314A>G (p.Glu105Gly) | Inborn genetic diseases [RCV004959777] | uncertain significance | 21 | 37065673 | 37065673 | Human | 1 | name |
| 151798536 | CV1352769 | insertion | NM_153682.3(PIGP):c.-22-48_-22-47insACGAT | not provided [RCV001877161] | uncertain significance | 21 | 37072584 | 37072585 | Human | | name |