| 401911970 | CV2817989 | single nucleotide variant | NM_004933.3(CDH15):c.*3C>T | not provided [RCV003426923] | uncertain significance | 16 | 89195158 | 89195158 | Human | | name |
| 15165141 | CV744899 | single nucleotide variant | NM_004933.3(CDH15):c.792+7C>T | not provided [RCV000904158] | benign|likely benign | 16 | 89187564 | 89187564 | Human | | name |
| 126743355 | CV1021556 | single nucleotide variant | NM_004933.3(CDH15):c.1615+5G>A | Intellectual disability, autosomal dominant 3 [RCV001336752] | uncertain significance | 16 | 89191899 | 89191899 | Human | 1 | name |
| 151353814 | CV1327366 | single nucleotide variant | NM_004933.3(CDH15):c.1855+9G>A | not specified [RCV001817310] | likely benign | 16 | 89192453 | 89192453 | Human | | name |
| 10403532 | CV208311 | single nucleotide variant | NM_004933.3(CDH15):c.1615+3G>A | not specified [RCV000192774] | likely benign|uncertain significance | 16 | 89191897 | 89191897 | Human | | name |
| 405271577 | CV3209442 | single nucleotide variant | NM_004933.3(CDH15):c.2152-9T>C | CDH15-related disorder [RCV003949763] | likely benign | 16 | 89194853 | 89194853 | Human | | name , trait , alternate_id |
| 405283372 | CV3218547 | single nucleotide variant | NM_004933.3(CDH15):c.1376-8G>A | CDH15-related disorder [RCV003957332] | likely benign | 16 | 89191647 | 89191647 | Human | | name , trait , alternate_id |
| 408380529 | CV3501185 | single nucleotide variant | NM_004933.3(CDH15):c.1616-6C>T | not provided [RCV004727273] | likely benign | 16 | 89192199 | 89192199 | Human | | name |
| 596942506 | CV3544141 | single nucleotide variant | NM_004933.3(CDH15):c.1993-5C>G | not specified [RCV004800132] | likely benign | 16 | 89193750 | 89193750 | Human | | name |
| 12900536 | CV409785 | single nucleotide variant | NM_004933.3(CDH15):c.1232+2T>A | not provided [RCV000482598] | uncertain significance | 16 | 89190498 | 89190498 | Human | | name |
| 126743350 | CV1021555 | single nucleotide variant | NM_004933.3(CDH15):c.1376-17G>A | Intellectual disability, autosomal dominant 3 [RCV001336751] | uncertain significance | 16 | 89191638 | 89191638 | Human | 1 | name |
| 15195058 | CV731120 | single nucleotide variant | NM_004933.3(CDH15):c.1375+10G>A | not provided [RCV000889395] | likely benign | 16 | 89191482 | 89191482 | Human | | name |
| 401944514 | CV2840183 | single nucleotide variant | NM_004933.3(CDH15):c.76A>C (p.Arg26=) | not provided [RCV003457259] | likely benign | 16 | 89179449 | 89179449 | Human | | name |
| 13480133 | CV445662 | single nucleotide variant | NM_004933.3(CDH15):c.2T>A (p.Met1Lys) | not provided [RCV000521143] | uncertain significance | 16 | 89171833 | 89171833 | Human | | name |
| 151355448 | CV1328515 | single nucleotide variant | NM_004933.3(CDH15):c.165C>T (p.Ser55=) | not specified [RCV001820520] | likely benign | 16 | 89179538 | 89179538 | Human | | name |
| 8659236 | CV134092 | single nucleotide variant | NM_004933.3(CDH15):c.153G>A (p.Pro51=) | not provided [RCV000965337]|not specified [RCV000116615] | benign|likely benign | 16 | 89179526 | 89179526 | Human | | name |
| 8659235 | CV134093 | single nucleotide variant | NM_004933.3(CDH15):c.171C>T (p.Asn57=) | not provided [RCV004703379]|not specified [RCV000116616] | benign|likely benign | 16 | 89179544 | 89179544 | Human | | name |
| 8659234 | CV134094 | single nucleotide variant | NM_004933.3(CDH15):c.174C>T (p.His58=) | not provided [RCV004709248]|not specified [RCV000116617] | benign|likely benign | 16 | 89179547 | 89179547 | Human | | name |
| 8659187 | CV134100 | single nucleotide variant | NM_004933.3(CDH15):c.264T>C (p.Asp88=) | not provided [RCV001711385]|not specified [RCV000116623] | benign|likely benign | 16 | 89180262 | 89180262 | Human | | name |
| 152980339 | CV1678555 | single nucleotide variant | NM_004933.3(CDH15):c.22G>C (p.Val8Leu) | not provided [RCV004694202]|not specified [RCV002247062] | uncertain significance | 16 | 89171853 | 89171853 | Human | | name |
| 155743368 | CV1839386 | single nucleotide variant | NM_004933.3(CDH15):c.183C>T (p.Leu61=) | not specified [RCV004059971] | likely benign | 16 | 89179556 | 89179556 | Human | | name |
| 155953243 | CV1936189 | single nucleotide variant | NM_004933.3(CDH15):c.291C>T (p.Ile97=) | not provided [RCV002511846] | likely benign | 16 | 89180289 | 89180289 | Human | | name |
| 401911953 | CV2817963 | single nucleotide variant | NM_004933.3(CDH15):c.279C>G (p.Gly93=) | not provided [RCV003426910] | likely benign | 16 | 89180277 | 89180277 | Human | | name |
| 405256776 | CV3185899 | single nucleotide variant | NM_004933.3(CDH15):c.111G>A (p.Ala37=) | CDH15-related disorder [RCV003909217]|not provided [RCV003884975] | likely benign | 16 | 89179484 | 89179484 | Human | 1 | name , trait , alternate_id |
| 405257086 | CV3186748 | single nucleotide variant | NM_004933.3(CDH15):c.255C>A (p.Pro85=) | CDH15-related disorder [RCV003909221]|not provided [RCV003886829] | likely benign | 16 | 89180253 | 89180253 | Human | 1 | name , trait , alternate_id |
| 597788720 | CV3645194 | single nucleotide variant | NM_004933.3(CDH15):c.14T>G (p.Phe5Cys) | not specified [RCV004901554] | uncertain significance | 16 | 89171845 | 89171845 | Human | | name |
| 13446120 | CV438027 | single nucleotide variant | NM_004933.3(CDH15):c.132G>T (p.Arg44=) | not provided [RCV000513302] | likely benign|conflicting interpretations of pathogenicity|uncertain significance | 16 | 89179505 | 89179505 | Human | | name |
| 15135748 | CV715203 | single nucleotide variant | NM_004933.3(CDH15):c.231C>T (p.Ser77=) | not provided [RCV000965338] | benign | 16 | 89180229 | 89180229 | Human | | name |
| 15164327 | CV740504 | single nucleotide variant | NM_004933.3(CDH15):c.255C>T (p.Pro85=) | not provided [RCV000903978] | benign|likely benign | 16 | 89180253 | 89180253 | Human | | name |
| 15136311 | CV755544 | single nucleotide variant | NM_004933.3(CDH15):c.210G>C (p.Ser70=) | not provided [RCV000920990] | likely benign | 16 | 89180208 | 89180208 | Human | | name |
| 151353216 | CV1326202 | single nucleotide variant | NM_004933.3(CDH15):c.423A>G (p.Val141=) | not provided [RCV001816181] | likely benign | 16 | 89183613 | 89183613 | Human | | name |
| 151353218 | CV1326204 | single nucleotide variant | NM_004933.3(CDH15):c.714C>T (p.Asp238=) | not provided [RCV001816183] | likely benign | 16 | 89187479 | 89187479 | Human | | name |
| 151354916 | CV1327983 | single nucleotide variant | NM_004933.3(CDH15):c.402C>T (p.Asp134=) | not specified [RCV001819459] | likely benign | 16 | 89183592 | 89183592 | Human | | name |
| 8659188 | CV134101 | single nucleotide variant | NM_004933.3(CDH15):c.387A>G (p.Gly129=) | Intellectual disability, autosomal dominant 3 [RCV002490790]|not provided [RCV000954499]|not specified [RCV000116624] | benign|likely benign | 16 | 89183577 | 89183577 | Human | 1 | name |
| 8659190 | CV134103 | single nucleotide variant | NM_004933.3(CDH15):c.615C>T (p.Asp205=) | not provided [RCV000957494]|not specified [RCV000116626] | benign|likely benign | 16 | 89185285 | 89185285 | Human | | name |
| 10403767 | CV208310 | single nucleotide variant | NM_004933.3(CDH15):c.669C>A (p.Val223=) | not specified [RCV000193364] | uncertain significance | 16 | 89187434 | 89187434 | Human | | name |
| 155922942 | CV2280180 | single nucleotide variant | NM_004933.3(CDH15):c.77G>A (p.Arg26Lys) | not specified [RCV004140404] | uncertain significance | 16 | 89179450 | 89179450 | Human | | name |
| 156191162 | CV2356828 | single nucleotide variant | NM_004933.3(CDH15):c.45C>G (p.Ser15Arg) | not specified [RCV004202165] | uncertain significance | 16 | 89179418 | 89179418 | Human | | name |
| 401903574 | CV2817964 | single nucleotide variant | NM_004933.3(CDH15):c.324C>G (p.Ala108=) | not provided [RCV003419503] | likely benign | 16 | 89180322 | 89180322 | Human | | name |
| 401943760 | CV2840184 | single nucleotide variant | NM_004933.3(CDH15):c.828G>C (p.Val276=) | not provided [RCV003456953] | likely benign | 16 | 89188135 | 89188135 | Human | | name |
| 405263592 | CV3185195 | single nucleotide variant | NM_004933.3(CDH15):c.642G>A (p.Val214=) | not provided [RCV003885759] | likely benign | 16 | 89185312 | 89185312 | Human | | name |
| 408376639 | CV3515077 | single nucleotide variant | NM_004933.3(CDH15):c.954C>T (p.Asn318=) | CDH15-related disorder [RCV004749311] | likely benign | 16 | 89188261 | 89188261 | Human | | name , trait , alternate_id |
| 596946440 | CV3548260 | single nucleotide variant | NM_004933.3(CDH15):c.98C>T (p.Pro33Leu) | not provided [RCV004810085] | uncertain significance | 16 | 89179471 | 89179471 | Human | | name |
| 617153025 | CV4018664 | single nucleotide variant | NM_004933.3(CDH15):c.363A>G (p.Arg121=) | not specified [RCV005419356] | likely benign | 16 | 89183553 | 89183553 | Human | | name |
| 13213534 | CV429870 | single nucleotide variant | NM_004933.3(CDH15):c.633C>A (p.Ile211=) | not specified [RCV000500128] | likely benign | 16 | 89185303 | 89185303 | Human | | name |
| 15199289 | CV726934 | single nucleotide variant | NM_004933.3(CDH15):c.834G>T (p.Val278=) | not provided [RCV000890594] | likely benign | 16 | 89188141 | 89188141 | Human | | name |
| 42722854 | CV985344 | deletion | NM_004933.3(CDH15):c.100del (p.Trp34fs) | Intellectual disability, autosomal dominant 3 [RCV005225574]|not specified [RCV002247063] | pathogenic|uncertain significance | 16 | 89179473 | 89179473 | Human | 1 | name |
| 150520820 | CV1289922 | single nucleotide variant | NM_004933.3(CDH15):c.131G>A (p.Arg44Gln) | not provided [RCV001730298]|not specified [RCV005308496] | benign|uncertain significance | 16 | 89179504 | 89179504 | Human | | name |
| 151354637 | CV1327704 | single nucleotide variant | NM_004933.3(CDH15):c.1920G>A (p.Leu640=) | not provided [RCV003426204]|not specified [RCV001819179] | likely benign | 16 | 89193534 | 89193534 | Human | | name |
| 151355424 | CV1328491 | single nucleotide variant | NM_004933.3(CDH15):c.280G>A (p.Val94Ile) | not specified [RCV001820496] | uncertain significance | 16 | 89180278 | 89180278 | Human | | name |
| 8659239 | CV134089 | single nucleotide variant | NM_004933.3(CDH15):c.227G>A (p.Gly76Asp) | not provided [RCV000116612] | uncertain significance | 16 | 89180225 | 89180225 | Human | | name |
| 8659238 | CV134090 | single nucleotide variant | NM_004933.3(CDH15):c.1023G>A (p.Ser341=) | Intellectual disability, autosomal dominant 3 [RCV001554478]|not provided [RCV001534848]|not specified [RCV000116613] | benign|likely benign | 16 | 89190287 | 89190287 | Human | 1 | name |
| 8659237 | CV134091 | single nucleotide variant | NM_004933.3(CDH15):c.109G>T (p.Ala37Ser) | not provided [RCV001725123]|not specified [RCV000116614] | benign|likely benign | 16 | 89179482 | 89179482 | Human | 1 | name |
| 8659237 | CV134091 | single nucleotide variant | NM_004933.3(CDH15):c.109G>T (p.Ala37Ser) | not provided [RCV001725123]|not specified [RCV000116614] | benign|likely benign | 16 | 89179482 | 89179483 | Human | 1 | name |
| 8659232 | CV134096 | single nucleotide variant | NM_004933.3(CDH15):c.1971A>G (p.Gln657=) | Intellectual disability, autosomal dominant 3 [RCV001554480]|not provided [RCV001675617]|not specified [RCV000116619] | benign|likely benign | 16 | 89193585 | 89193585 | Human | 1 | name |
| 8659186 | CV134097 | single nucleotide variant | NM_004933.3(CDH15):c.2025G>A (p.Pro675=) | not provided [RCV000955214]|not specified [RCV000116620] | benign|likely benign | 16 | 89193787 | 89193787 | Human | | name |
| 155953256 | CV1936190 | single nucleotide variant | NM_004933.3(CDH15):c.1383G>A (p.Gln461=) | not provided [RCV002511847] | likely benign | 16 | 89191662 | 89191662 | Human | | name |
| 10404369 | CV208309 | single nucleotide variant | NM_004933.3(CDH15):c.107G>A (p.Arg36Gln) | CDH15-related disorder [RCV003422093]|not specified [RCV000194905] | likely benign|uncertain significance | 16 | 89179480 | 89179480 | Human | 1 | name , trait , alternate_id |
| 10403941 | CV208312 | single nucleotide variant | NM_004933.3(CDH15):c.1722T>G (p.Pro574=) | not specified [RCV000193796] | uncertain significance | 16 | 89192311 | 89192311 | Human | | name |
| 156375270 | CV2213559 | single nucleotide variant | NM_004933.3(CDH15):c.179G>A (p.Arg60His) | not specified [RCV004087512] | uncertain significance | 16 | 89179552 | 89179552 | Human | | name |
| 155978575 | CV2339948 | single nucleotide variant | NM_004933.3(CDH15):c.127G>A (p.Val43Met) | not specified [RCV004192211] | uncertain significance | 16 | 89179500 | 89179500 | Human | | name |
| 329373446 | CV2452400 | single nucleotide variant | NM_004933.3(CDH15):c.223C>A (p.Leu75Met) | not specified [RCV004273017] | uncertain significance | 16 | 89180221 | 89180221 | Human | | name |
| 401731790 | CV2674482 | single nucleotide variant | NM_004933.3(CDH15):c.152C>T (p.Pro51Leu) | not specified [RCV004291376] | uncertain significance | 16 | 89179525 | 89179525 | Human | | name |
| 401768345 | CV2675259 | single nucleotide variant | NM_004933.3(CDH15):c.275G>T (p.Arg92Leu) | not specified [RCV004290026] | uncertain significance | 16 | 89180273 | 89180273 | Human | | name |
| 401829380 | CV2743771 | single nucleotide variant | NM_004933.3(CDH15):c.2247G>A (p.Leu749=) | not provided [RCV003326947] | likely benign | 16 | 89194957 | 89194957 | Human | | name |
| 401860372 | CV2752227 | single nucleotide variant | NM_004933.3(CDH15):c.160G>T (p.Val54Leu) | Intellectual disability, autosomal dominant 1 [RCV003336632] | uncertain significance | 16 | 89179533 | 89179533 | Human | 1 | name |
| 401864522 | CV2760942 | single nucleotide variant | NM_004933.3(CDH15):c.130C>T (p.Arg44Trp) | Intellectual disability [RCV005356409]|not specified [RCV004336574] | likely benign|uncertain significance | 16 | 89179503 | 89179503 | Human | 2 | name |
| 401931249 | CV2800688 | single nucleotide variant | NM_004933.3(CDH15):c.277G>A (p.Gly93Ser) | CDH15-related disorder [RCV003391280] | uncertain significance | 16 | 89180275 | 89180275 | Human | | name , trait , alternate_id |
| 401903577 | CV2817973 | single nucleotide variant | NM_004933.3(CDH15):c.1089C>T (p.Arg363=) | not provided [RCV003419505] | likely benign | 16 | 89190353 | 89190353 | Human | | name |
| 401903578 | CV2817974 | single nucleotide variant | NM_004933.3(CDH15):c.1236C>T (p.Tyr412=) | not provided [RCV003419506] | likely benign | 16 | 89191333 | 89191333 | Human | | name |
| 401911962 | CV2817976 | single nucleotide variant | NM_004933.3(CDH15):c.1464G>C (p.Pro488=) | not provided [RCV003426917] | likely benign | 16 | 89191743 | 89191743 | Human | | name |
| 401911965 | CV2817978 | single nucleotide variant | NM_004933.3(CDH15):c.1728C>T (p.Asn576=) | not provided [RCV003426919] | likely benign | 16 | 89192317 | 89192317 | Human | | name |
| 401935582 | CV2817982 | single nucleotide variant | NM_004933.3(CDH15):c.1908C>A (p.Gly636=) | not provided [RCV003413039] | likely benign | 16 | 89193522 | 89193522 | Human | | name |
| 401911966 | CV2817983 | single nucleotide variant | NM_004933.3(CDH15):c.1923C>T (p.His641=) | not provided [RCV003426920] | likely benign | 16 | 89193537 | 89193537 | Human | | name |
| 401903580 | CV2817984 | single nucleotide variant | NM_004933.3(CDH15):c.1977C>G (p.Gly659=) | not provided [RCV003419507] | likely benign | 16 | 89193591 | 89193591 | Human | | name |
| 401911969 | CV2817988 | single nucleotide variant | NM_004933.3(CDH15):c.2226C>T (p.Asp742=) | not provided [RCV003426922] | likely benign | 16 | 89194936 | 89194936 | Human | | name |
| 405266347 | CV3186620 | single nucleotide variant | NM_004933.3(CDH15):c.1431C>T (p.Asn477=) | not provided [RCV003886701] | likely benign | 16 | 89191710 | 89191710 | Human | | name |
| 405284932 | CV3190951 | single nucleotide variant | NM_004933.3(CDH15):c.1851G>A (p.Leu617=) | CDH15-related disorder [RCV003909508] | likely benign | 16 | 89192440 | 89192440 | Human | | name , trait , alternate_id |
| 405280501 | CV3195554 | single nucleotide variant | NM_004933.3(CDH15):c.1980G>C (p.Gly660=) | CDH15-related disorder [RCV003906799] | likely benign | 16 | 89193594 | 89193594 | Human | | name , trait , alternate_id |
| 405258361 | CV3203648 | single nucleotide variant | NM_004933.3(CDH15):c.1653C>T (p.Pro551=) | CDH15-related disorder [RCV003941843] | likely benign | 16 | 89192242 | 89192242 | Human | | name , trait , alternate_id |
| 405258159 | CV3208207 | single nucleotide variant | NM_004933.3(CDH15):c.1665C>T (p.His555=) | CDH15-related disorder [RCV003941645] | likely benign | 16 | 89192254 | 89192254 | Human | | name , trait , alternate_id |
| 405272627 | CV3210141 | single nucleotide variant | NM_004933.3(CDH15):c.1989C>T (p.Asp663=) | CDH15-related disorder [RCV003914389] | likely benign | 16 | 89193603 | 89193603 | Human | | name , trait , alternate_id |
| 405285488 | CV3212573 | single nucleotide variant | NM_004933.3(CDH15):c.2436G>A (p.Arg812=) | CDH15-related disorder [RCV003959144] | likely benign | 16 | 89195146 | 89195146 | Human | | name , trait , alternate_id |
| 405278137 | CV3216467 | single nucleotide variant | NM_004933.3(CDH15):c.1338C>T (p.Gly446=) | CDH15-related disorder [RCV003954399] | likely benign | 16 | 89191435 | 89191435 | Human | | name , trait , alternate_id |
| 8600664 | CV32681 | single nucleotide variant | NM_004933.3(CDH15):c.178C>T (p.Arg60Cys) | Intellectual disability, autosomal dominant 3 [RCV000019209]|not provided [RCV000881058] | pathogenic|likely benign | 16 | 89179551 | 89179551 | Human | 1 | name |
| 8600665 | CV32682 | single nucleotide variant | NM_004933.3(CDH15):c.274C>T (p.Arg92Trp) | Intellectual disability, autosomal dominant 3 [RCV000019210]|not specified [RCV000502940] | pathogenic|uncertain significance | 16 | 89180272 | 89180272 | Human | 1 | name |
| 405719664 | CV3296417 | single nucleotide variant | NM_004933.3(CDH15):c.110C>T (p.Ala37Val) | not specified [RCV004427966] | uncertain significance | 16 | 89179483 | 89179483 | Human | | name |
| 405866720 | CV3401128 | single nucleotide variant | NM_004933.3(CDH15):c.274C>G (p.Arg92Gly) | Intellectual disability, autosomal dominant 3 [RCV004577244] | uncertain significance | 16 | 89180272 | 89180272 | Human | 1 | name |
| 408377829 | CV3500843 | single nucleotide variant | NM_004933.3(CDH15):c.1420C>T (p.Leu474=) | not provided [RCV004722493] | likely benign | 16 | 89191699 | 89191699 | Human | | name |
| 596942848 | CV3544222 | single nucleotide variant | NM_004933.3(CDH15):c.1230C>G (p.Leu410=) | not specified [RCV004800215] | uncertain significance | 16 | 89190494 | 89190494 | Human | | name |
| 597788747 | CV3645202 | single nucleotide variant | NM_004933.3(CDH15):c.275G>A (p.Arg92Gln) | not specified [RCV004901561] | uncertain significance | 16 | 89180273 | 89180273 | Human | | name |
| 598125666 | CV3885664 | single nucleotide variant | NM_004933.3(CDH15):c.2025G>T (p.Pro675=) | not specified [RCV005241177] | likely benign | 16 | 89193787 | 89193787 | Human | | name |
| 13216888 | CV429875 | single nucleotide variant | NM_004933.3(CDH15):c.1680G>T (p.Leu560=) | CDH15-related disorder [RCV003962370]|not provided [RCV000996388]|not specified [RCV000504320] | likely benign|uncertain significance | 16 | 89192269 | 89192269 | Human | 1 | name , trait , alternate_id |
| 13214202 | CV429877 | single nucleotide variant | NM_004933.3(CDH15):c.1849C>T (p.Leu617=) | not provided [RCV001815396]|not specified [RCV000500974] | likely benign | 16 | 89192438 | 89192438 | Human | | name |
| 13217048 | CV429881 | single nucleotide variant | NM_004933.3(CDH15):c.2319C>T (p.Phe773=) | not provided [RCV003424056]|not specified [RCV000504526] | likely benign | 16 | 89195029 | 89195029 | Human | | name |
| 15168577 | CV715204 | single nucleotide variant | NM_004933.3(CDH15):c.1320G>A (p.Ala440=) | not provided [RCV000971642]|not specified [RCV001819116] | likely benign | 16 | 89191417 | 89191417 | Human | | name |
| 15164460 | CV715205 | single nucleotide variant | NM_004933.3(CDH15):c.1410C>T (p.Ser470=) | CDH15-related disorder [RCV003905999]|not provided [RCV000970724] | benign|likely benign | 16 | 89191689 | 89191689 | Human | 1 | name , trait , alternate_id |
| 15197964 | CV726935 | single nucleotide variant | NM_004933.3(CDH15):c.1095T>C (p.His365=) | CDH15-related disorder [RCV003950381]|not provided [RCV000890218] | benign|likely benign | 16 | 89190359 | 89190359 | Human | 1 | name , trait , alternate_id |
| 15106566 | CV755543 | single nucleotide variant | NM_004933.3(CDH15):c.160G>A (p.Val54Ile) | Intellectual disability [RCV005359660]|not provided [RCV000915779] | likely benign|uncertain significance | 16 | 89179533 | 89179533 | Human | 2 | name |
| 15154210 | CV755545 | single nucleotide variant | NM_004933.3(CDH15):c.1119C>T (p.Pro373=) | not provided [RCV000924213] | likely benign | 16 | 89190383 | 89190383 | Human | | name |
| 15121588 | CV771199 | single nucleotide variant | NM_004933.3(CDH15):c.1512C>A (p.Gly504=) | not provided [RCV000940550] | likely benign | 16 | 89191791 | 89191791 | Human | | name |
| 15122474 | CV771200 | single nucleotide variant | NM_004933.3(CDH15):c.2145C>T (p.Ile715=) | not provided [RCV000940690] | likely benign | 16 | 89193907 | 89193907 | Human | | name |
| 28900325 | CV860312 | single nucleotide variant | NM_004933.3(CDH15):c.127G>T (p.Val43Leu) | Intellectual disability, autosomal dominant 3 [RCV005012550]|not provided [RCV001093043]|not specified [RCV004031992] | uncertain significance | 16 | 89179500 | 89179500 | Human | 1 | name |
| 126740003 | CV1018186 | deletion | NM_004933.3(CDH15):c.1748del (p.Gly583fs) | Mental retardation, autosomal dominant 3 [RCV001329333] | pathogenic | 16 | 89192336 | 89192336 | Human | | name |
| 126743362 | CV1021553 | single nucleotide variant | NM_004933.3(CDH15):c.472A>G (p.Thr158Ala) | Intellectual disability, autosomal dominant 3 [RCV001336754]|not specified [RCV004035814] | uncertain significance | 16 | 89183662 | 89183662 | Human | 1 | name |
| 126743366 | CV1021554 | single nucleotide variant | NM_004933.3(CDH15):c.658C>T (p.Arg220Cys) | Intellectual disability, autosomal dominant 3 [RCV001336755] | uncertain significance | 16 | 89185328 | 89185328 | Human | 1 | name |
| 126912641 | CV1038490 | single nucleotide variant | NM_004933.3(CDH15):c.934C>T (p.Arg312Cys) | not provided [RCV001356695]|not specified [RCV004034469] | uncertain significance | 16 | 89188241 | 89188241 | Human | | name |
| 127261683 | CV1087390 | single nucleotide variant | NM_004933.3(CDH15):c.607A>T (p.Ser203Cys) | Intellectual disability, autosomal dominant 3 [RCV001420583] | uncertain significance | 16 | 89185277 | 89185277 | Human | 1 | name |
| 150338142 | CV1173819 | deletion | NM_004933.3(CDH15):c.1316del (p.Pro439fs) | not provided [RCV001542077] | uncertain significance | 16 | 89191411 | 89191411 | Human | | name |
| 150528871 | CV1288539 | single nucleotide variant | NM_004933.3(CDH15):c.737C>T (p.Ala246Val) | not provided [RCV001727007]|not specified [RCV004040000] | likely benign|uncertain significance | 16 | 89187502 | 89187502 | Human | | name |
| 150543094 | CV1309322 | single nucleotide variant | NM_004933.3(CDH15):c.328C>A (p.Leu110Met) | not provided [RCV003238395] | uncertain significance | 16 | 89180326 | 89180326 | Human | | name |
| 151353217 | CV1326203 | single nucleotide variant | NM_004933.3(CDH15):c.550A>T (p.Thr184Ser) | not provided [RCV001816182] | uncertain significance | 16 | 89185220 | 89185220 | Human | | name |
| 151354126 | CV1327678 | single nucleotide variant | NM_004933.3(CDH15):c.938C>G (p.Thr313Arg) | not specified [RCV001817622] | likely benign | 16 | 89188245 | 89188245 | Human | | name |
| 8659189 | CV134102 | single nucleotide variant | NM_004933.3(CDH15):c.598G>A (p.Glu200Lys) | not provided [RCV003421995]|not specified [RCV000116625] | benign|conflicting interpretations of pathogenicity|uncertain significance | 16 | 89185268 | 89185268 | Human | 1 | name |
| 8659189 | CV134102 | single nucleotide variant | NM_004933.3(CDH15):c.598G>A (p.Glu200Lys) | not provided [RCV003421995]|not specified [RCV000116625] | benign|conflicting interpretations of pathogenicity|uncertain significance | 16 | 89185268 | 89185269 | Human | 1 | name |
| 8659191 | CV134104 | single nucleotide variant | NM_004933.3(CDH15):c.671C>T (p.Ala224Val) | not provided [RCV000116627] | uncertain significance | 16 | 89187436 | 89187436 | Human | | name |
| 8659192 | CV134105 | single nucleotide variant | NM_004933.3(CDH15):c.718C>T (p.Leu240Phe) | not provided [RCV000426575]|not specified [RCV000116628] | benign|uncertain significance | 16 | 89187483 | 89187483 | Human | | name |
| 8659193 | CV134106 | single nucleotide variant | NM_004933.3(CDH15):c.782C>A (p.Thr261Asn) | not provided [RCV000116629] | uncertain significance | 16 | 89187547 | 89187547 | Human | | name |
| 8659194 | CV134107 | single nucleotide variant | NM_004933.3(CDH15):c.788A>G (p.Asp263Gly) | not provided [RCV000116630] | uncertain significance | 16 | 89187553 | 89187553 | Human | | name |
| 152979426 | CV1675555 | single nucleotide variant | NM_004933.3(CDH15):c.479G>T (p.Arg160Leu) | Intellectual disability, autosomal dominant 3 [RCV002244145] | uncertain significance | 16 | 89183669 | 89183669 | Human | 1 | name |
| 153000411 | CV1683023 | single nucleotide variant | NM_004933.3(CDH15):c.683T>A (p.Leu228Gln) | See cases [RCV002253033] | uncertain significance | 16 | 89187448 | 89187448 | Human | | name |
| 156107897 | CV2214287 | single nucleotide variant | NM_004933.3(CDH15):c.551C>G (p.Thr184Arg) | not specified [RCV004086278] | uncertain significance | 16 | 89185221 | 89185221 | Human | | name |
| 156120990 | CV2226982 | single nucleotide variant | NM_004933.3(CDH15):c.841C>G (p.Leu281Val) | not specified [RCV004097376] | uncertain significance | 16 | 89188148 | 89188148 | Human | | name |
| 155927924 | CV2227417 | single nucleotide variant | NM_004933.3(CDH15):c.838C>T (p.Arg280Cys) | not specified [RCV004092082] | uncertain significance | 16 | 89188145 | 89188145 | Human | | name |
| 156157292 | CV2235251 | single nucleotide variant | NM_004933.3(CDH15):c.959G>C (p.Gly320Ala) | not specified [RCV004107298] | uncertain significance | 16 | 89188266 | 89188266 | Human | | name |
| 156071679 | CV2254933 | single nucleotide variant | NM_004933.3(CDH15):c.742A>G (p.Ile248Val) | not specified [RCV004117170] | uncertain significance | 16 | 89187507 | 89187507 | Human | | name |
| 156180103 | CV2258408 | single nucleotide variant | NM_004933.3(CDH15):c.549G>T (p.Glu183Asp) | not specified [RCV004115611] | likely benign | 16 | 89185219 | 89185219 | Human | | name |
| 156271559 | CV2286421 | single nucleotide variant | NM_004933.3(CDH15):c.563C>T (p.Ala188Val) | not specified [RCV004139942] | uncertain significance | 16 | 89185233 | 89185233 | Human | | name |
| 156271904 | CV2286489 | single nucleotide variant | NM_004933.3(CDH15):c.364G>C (p.Ala122Pro) | not specified [RCV004139994] | uncertain significance | 16 | 89183554 | 89183554 | Human | | name |
| 156259723 | CV2304989 | single nucleotide variant | NM_004933.3(CDH15):c.543C>A (p.Asp181Glu) | not specified [RCV004168884] | uncertain significance | 16 | 89185213 | 89185213 | Human | | name |
| 155931049 | CV2361326 | single nucleotide variant | NM_004933.3(CDH15):c.613G>A (p.Asp205Asn) | not specified [RCV004218534] | uncertain significance | 16 | 89185283 | 89185283 | Human | | name |
| 243054980 | CV2409834 | duplication | NM_004933.3(CDH15):c.1590dup (p.Asn531fs) | not provided [RCV003144755] | uncertain significance | 16 | 89191867 | 89191868 | Human | | name |
| 243054988 | CV2409836 | duplication | NM_004933.3(CDH15):c.1017dup (p.Val340fs) | not provided [RCV003144757] | uncertain significance | 16 | 89190278 | 89190279 | Human | | name |
| 243054992 | CV2409837 | single nucleotide variant | NM_004933.3(CDH15):c.481G>T (p.Val161Leu) | not provided [RCV003144758] | uncertain significance | 16 | 89183671 | 89183671 | Human | | name |
| 329390618 | CV2437134 | single nucleotide variant | NM_004933.3(CDH15):c.872C>T (p.Ser291Phe) | not specified [RCV004262941] | uncertain significance | 16 | 89188179 | 89188179 | Human | | name |
| 329373172 | CV2439307 | single nucleotide variant | NM_004933.3(CDH15):c.634C>T (p.Arg212Cys) | not specified [RCV004249617] | uncertain significance | 16 | 89185304 | 89185304 | Human | | name |
| 329376750 | CV2460475 | single nucleotide variant | NM_004933.3(CDH15):c.334C>T (p.Arg112Cys) | not specified [RCV004268769] | uncertain significance | 16 | 89180332 | 89180332 | Human | | name |
| 11638652 | CV264649 | single nucleotide variant | NM_004933.3(CDH15):c.445C>T (p.Arg149Trp) | not provided [RCV000307600]|not specified [RCV004021056] | uncertain significance | 16 | 89183635 | 89183635 | Human | | name |
| 401761127 | CV2706227 | single nucleotide variant | NM_004933.3(CDH15):c.461A>G (p.Gln154Arg) | not specified [RCV004314897] | uncertain significance | 16 | 89183651 | 89183651 | Human | | name |
| 401880572 | CV2780020 | single nucleotide variant | NM_004933.3(CDH15):c.920G>T (p.Gly307Val) | not specified [RCV004355691] | uncertain significance | 16 | 89188227 | 89188227 | Human | | name |
| 401885599 | CV2783344 | single nucleotide variant | NM_004933.3(CDH15):c.628G>C (p.Glu210Gln) | not specified [RCV004365707] | uncertain significance | 16 | 89185298 | 89185298 | Human | | name |
| 401911921 | CV2795941 | duplication | NM_004933.3(CDH15):c.1796dup (p.Thr600fs) | CDH15-related disorder [RCV003399677] | uncertain significance | 16 | 89192379 | 89192380 | Human | | name , trait , alternate_id |
| 401912791 | CV2800822 | single nucleotide variant | NM_004933.3(CDH15):c.404C>A (p.Pro135His) | CDH15-related disorder [RCV003399968] | uncertain significance | 16 | 89183594 | 89183594 | Human | | name , trait , alternate_id |
| 401913059 | CV2801559 | single nucleotide variant | NM_004933.3(CDH15):c.520G>T (p.Ala174Ser) | CDH15-related disorder [RCV003400051] | uncertain significance | 16 | 89185190 | 89185190 | Human | | name , trait , alternate_id |
| 401911954 | CV2817965 | single nucleotide variant | NM_004933.3(CDH15):c.563C>A (p.Ala188Glu) | not provided [RCV003426911] | uncertain significance | 16 | 89185233 | 89185233 | Human | | name |
| 401911955 | CV2817966 | single nucleotide variant | NM_004933.3(CDH15):c.598G>C (p.Glu200Gln) | not provided [RCV003426912] | uncertain significance | 16 | 89185268 | 89185268 | Human | | name |
| 401911957 | CV2817967 | single nucleotide variant | NM_004933.3(CDH15):c.823G>A (p.Gly275Arg) | not provided [RCV003426913] | likely benign | 16 | 89188130 | 89188130 | Human | | name |
| 401911958 | CV2817968 | single nucleotide variant | NM_004933.3(CDH15):c.890G>A (p.Arg297Lys) | not provided [RCV003426914] | likely benign | 16 | 89188197 | 89188197 | Human | | name |
| 401903576 | CV2817969 | single nucleotide variant | NM_004933.3(CDH15):c.935G>T (p.Arg312Leu) | not provided [RCV003419504] | likely benign | 16 | 89188242 | 89188242 | Human | | name |
| 401935579 | CV2817970 | single nucleotide variant | NM_004933.3(CDH15):c.938C>T (p.Thr313Met) | not provided [RCV003413036] | likely benign | 16 | 89188245 | 89188245 | Human | | name |
| 401911959 | CV2817971 | single nucleotide variant | NM_004933.3(CDH15):c.962T>G (p.Val321Gly) | not provided [RCV003426915] | uncertain significance | 16 | 89188269 | 89188269 | Human | | name |
| 405269944 | CV3187551 | single nucleotide variant | NM_004933.3(CDH15):c.487G>C (p.Glu163Gln) | not provided [RCV003887635] | uncertain significance | 16 | 89183677 | 89183677 | Human | | name |
| 8600666 | CV32683 | single nucleotide variant | NM_004933.3(CDH15):c.365C>T (p.Ala122Val) | CDH15-related disorder [RCV003964805]|Intellectual disability, autosomal dominant 3 [RCV000019211]|not provided [RCV000965339] | pathogenic|likely benign | 16 | 89183555 | 89183555 | Human | 1 | name , trait , alternate_id |
| 405719775 | CV3296431 | single nucleotide variant | NM_004933.3(CDH15):c.379C>G (p.Leu127Val) | not specified [RCV004427980] | uncertain significance | 16 | 89183569 | 89183569 | Human | | name |
| 405719792 | CV3296433 | single nucleotide variant | NM_004933.3(CDH15):c.479G>A (p.Arg160His) | not specified [RCV004427982] | likely benign | 16 | 89183669 | 89183669 | Human | | name |
| 407454775 | CV3422195 | single nucleotide variant | NM_004933.3(CDH15):c.320A>G (p.Asn107Ser) | not specified [RCV004609986] | uncertain significance | 16 | 89180318 | 89180318 | Human | | name |
| 407454786 | CV3422199 | single nucleotide variant | NM_004933.3(CDH15):c.679A>C (p.Asn227His) | not specified [RCV004609990] | uncertain significance | 16 | 89187444 | 89187444 | Human | | name |
| 408377158 | CV3507471 | single nucleotide variant | NM_004933.3(CDH15):c.555C>G (p.Asp185Glu) | CDH15-related disorder [RCV004750538] | uncertain significance | 16 | 89185225 | 89185225 | Human | | name , trait , alternate_id |
| 596948252 | CV3549333 | single nucleotide variant | NM_004933.3(CDH15):c.311T>C (p.Val104Ala) | not provided [RCV004812153] | likely benign | 16 | 89180309 | 89180309 | Human | | name |
| 596938251 | CV3550055 | single nucleotide variant | NM_004933.3(CDH15):c.955G>A (p.Glu319Lys) | von Willebrand disease type 1 [RCV004813360] | uncertain significance | 16 | 89188262 | 89188262 | Human | 1 | name |
| 596946219 | CV3550481 | deletion | NM_004933.3(CDH15):c.2095del (p.Gln699fs) | Intellectual disability, autosomal dominant 3 [RCV004819022] | uncertain significance | 16 | 89193853 | 89193853 | Human | 1 | name |
| 597788728 | CV3645196 | single nucleotide variant | NM_004933.3(CDH15):c.407C>T (p.Thr136Met) | not specified [RCV004901556] | uncertain significance | 16 | 89183597 | 89183597 | Human | | name |
| 597788732 | CV3645197 | single nucleotide variant | NM_004933.3(CDH15):c.478C>T (p.Arg160Cys) | not specified [RCV004901557] | uncertain significance | 16 | 89183668 | 89183668 | Human | | name |
| 598168468 | CV3947299 | single nucleotide variant | NM_004933.3(CDH15):c.569G>A (p.Arg190Gln) | not specified [RCV005308253] | uncertain significance | 16 | 89185239 | 89185239 | Human | | name |
| 598168481 | CV3947301 | single nucleotide variant | NM_004933.3(CDH15):c.698C>T (p.Ala233Val) | not specified [RCV005308255] | uncertain significance | 16 | 89187463 | 89187463 | Human | | name |
| 598168489 | CV3947302 | single nucleotide variant | NM_004933.3(CDH15):c.518G>A (p.Arg173Lys) | not specified [RCV005308256] | uncertain significance | 16 | 89185188 | 89185188 | Human | | name |
| 598229568 | CV3947307 | single nucleotide variant | NM_004933.3(CDH15):c.856A>G (p.Arg286Gly) | not specified [RCV005319248] | uncertain significance | 16 | 89188163 | 89188163 | Human | | name |
| 598168526 | CV3947309 | single nucleotide variant | NM_004933.3(CDH15):c.509A>T (p.Tyr170Phe) | not specified [RCV005308262] | uncertain significance | 16 | 89185179 | 89185179 | Human | | name |
| 598168532 | CV3947310 | single nucleotide variant | NM_004933.3(CDH15):c.703A>G (p.Met235Val) | not specified [RCV005308263] | uncertain significance | 16 | 89187468 | 89187468 | Human | | name |
| 12898944 | CV409786 | deletion | NM_004933.3(CDH15):c.1588del (p.Arg530fs) | not provided [RCV000479058] | uncertain significance | 16 | 89191866 | 89191866 | Human | | name |
| 13213395 | CV429869 | single nucleotide variant | NM_004933.3(CDH15):c.616G>A (p.Glu206Lys) | not specified [RCV000499893] | likely benign|conflicting interpretations of pathogenicity | 16 | 89185286 | 89185286 | Human | | name |
| 13214798 | CV429871 | single nucleotide variant | NM_004933.3(CDH15):c.970A>G (p.Ile324Val) | not specified [RCV000501688] | uncertain significance | 16 | 89188277 | 89188277 | Human | | name |
| 13474381 | CV445663 | single nucleotide variant | NM_004933.3(CDH15):c.641T>G (p.Val214Gly) | not provided [RCV000519633] | uncertain significance | 16 | 89185311 | 89185311 | Human | | name |
| 21072900 | CV791652 | single nucleotide variant | NM_004933.3(CDH15):c.568C>T (p.Arg190Trp) | Intellectual disability, autosomal dominant 3 [RCV000989655]|not provided [RCV003424521]|not specified [RCV004030117] | likely benign|uncertain significance | 16 | 89185238 | 89185238 | Human | 1 | name |
| 21072901 | CV791653 | single nucleotide variant | NM_004933.3(CDH15):c.767A>T (p.Asn256Ile) | Intellectual disability, autosomal dominant 3 [RCV000989656] | likely benign | 16 | 89187532 | 89187532 | Human | 1 | name |
| 21075475 | CV797444 | single nucleotide variant | NM_004933.3(CDH15):c.541G>A (p.Asp181Asn) | not provided [RCV000996386] | uncertain significance | 16 | 89185211 | 89185211 | Human | | name |
| 126773042 | CV1012487 | single nucleotide variant | NM_004933.3(CDH15):c.1075C>T (p.Gln359Ter) | not provided [RCV001324097] | uncertain significance | 16 | 89190339 | 89190339 | Human | | name |
| 126739996 | CV1018184 | single nucleotide variant | NM_004933.3(CDH15):c.1039C>T (p.Pro347Ser) | Intellectual disability, autosomal dominant 3 [RCV001329331]|not provided [RCV003405555] | uncertain significance | 16 | 89190303 | 89190303 | Human | 1 | name |
| 126739999 | CV1018185 | single nucleotide variant | NM_004933.3(CDH15):c.1540G>A (p.Gly514Arg) | Intellectual disability, autosomal dominant 3 [RCV001329332] | uncertain significance | 16 | 89191819 | 89191819 | Human | 1 | name |
| 126743357 | CV1021557 | single nucleotide variant | NM_004933.3(CDH15):c.1742G>A (p.Arg581His) | Intellectual disability, autosomal dominant 3 [RCV001336753] | uncertain significance | 16 | 89192331 | 89192331 | Human | 1 | name |
| 150453296 | CV1203772 | single nucleotide variant | NM_004933.3(CDH15):c.2218G>C (p.Glu740Gln) | Intellectual disability, autosomal dominant 3 [RCV001591728] | uncertain significance | 16 | 89194928 | 89194928 | Human | 1 | name |
| 150528873 | CV1288540 | single nucleotide variant | NM_004933.3(CDH15):c.1572G>T (p.Arg524Ser) | not provided [RCV001727008]|not specified [RCV004040001] | uncertain significance | 16 | 89191851 | 89191851 | Human | | name |
| 150543095 | CV1309323 | single nucleotide variant | NM_004933.3(CDH15):c.2038C>G (p.Leu680Val) | not provided [RCV003238396] | uncertain significance | 16 | 89193800 | 89193800 | Human | | name |
| 151353939 | CV1327491 | single nucleotide variant | NM_004933.3(CDH15):c.1387C>T (p.Arg463Cys) | not specified [RCV001817435] | likely benign | 16 | 89191666 | 89191666 | Human | | name |
| 151356482 | CV1329246 | single nucleotide variant | NM_004933.3(CDH15):c.1748G>A (p.Gly583Asp) | not specified [RCV001822835] | likely benign | 16 | 89192337 | 89192337 | Human | | name |
| 151354135 | CV1329268 | single nucleotide variant | NM_004933.3(CDH15):c.1162G>A (p.Ala388Thr) | not specified [RCV001817631] | uncertain significance | 16 | 89190426 | 89190426 | Human | | name |
| 151662424 | CV1333104 | single nucleotide variant | NM_004933.3(CDH15):c.2071G>T (p.Ala691Ser) | Intellectual disability, autosomal dominant 3 [RCV001837337] | uncertain significance | 16 | 89193833 | 89193833 | Human | 1 | name |
| 8659233 | CV134095 | single nucleotide variant | NM_004933.3(CDH15):c.1750A>C (p.Lys584Gln) | Intellectual disability, autosomal dominant 3 [RCV001554479]|not provided [RCV001675616]|not specified [RCV000116618] | benign | 16 | 89192339 | 89192339 | Human | 1 | name |
| 8659231 | CV134098 | single nucleotide variant | NM_004933.3(CDH15):c.2353G>A (p.Gly785Arg) | not provided [RCV000903216]|not specified [RCV000116621] | benign|likely benign | 16 | 89195063 | 89195063 | Human | | name |
| 8659230 | CV134099 | single nucleotide variant | NM_004933.3(CDH15):c.2364C>A (p.Tyr788Ter) | Intellectual disability [RCV001252188]|not provided [RCV004709249]|not specified [RCV000116622] | benign|likely benign | 16 | 89195074 | 89195074 | Human | 3 | name |
| 8659230 | CV134099 | single nucleotide variant | NM_004933.3(CDH15):c.2364C>A (p.Tyr788Ter) | Intellectual disability [RCV001252188]|not provided [RCV004709249]|not specified [RCV000116622] | benign|likely benign | 16 | 89195074 | 89195075 | Human | 3 | name |
| 152080825 | CV1667030 | single nucleotide variant | NM_004933.3(CDH15):c.1004A>G (p.His335Arg) | not provided [RCV002211375] | uncertain significance | 16 | 89190268 | 89190268 | Human | | name |
| 155265332 | CV1695525 | single nucleotide variant | NM_004933.3(CDH15):c.1451C>T (p.Ala484Val) | not provided [RCV002280257] | uncertain significance | 16 | 89191730 | 89191730 | Human | | name |
| 10404344 | CV208313 | single nucleotide variant | NM_004933.3(CDH15):c.1912G>C (p.Gly638Arg) | not specified [RCV000194851] | uncertain significance | 16 | 89193526 | 89193526 | Human | | name |
| 10403572 | CV208314 | single nucleotide variant | NM_004933.3(CDH15):c.2146A>G (p.Asn716Asp) | not specified [RCV000192870] | benign|conflicting interpretations of pathogenicity|uncertain significance | 16 | 89193908 | 89193908 | Human | | name |
| 10403993 | CV208315 | single nucleotide variant | NM_004933.3(CDH15):c.2159A>C (p.Glu720Ala) | not specified [RCV000193921] | likely benign | 16 | 89194869 | 89194869 | Human | | name |
| 10404384 | CV208316 | single nucleotide variant | NM_004933.3(CDH15):c.2226C>A (p.Asp742Glu) | not specified [RCV000194940] | likely benign | 16 | 89194936 | 89194936 | Human | | name |
| 10450192 | CV215523 | single nucleotide variant | NM_004933.3(CDH15):c.2102C>A (p.Pro701His) | not specified [RCV000203071] | uncertain significance | 16 | 89193864 | 89193864 | Human | | name |
| 156243145 | CV2262232 | single nucleotide variant | NM_004933.3(CDH15):c.1685G>A (p.Arg562Gln) | not specified [RCV004128446] | likely benign | 16 | 89192274 | 89192274 | Human | | name |
| 156257396 | CV2264872 | single nucleotide variant | NM_004933.3(CDH15):c.2113C>A (p.Pro705Thr) | not specified [RCV004134624] | uncertain significance | 16 | 89193875 | 89193875 | Human | | name |
| 156080844 | CV2301036 | single nucleotide variant | NM_004933.3(CDH15):c.1933G>A (p.Asp645Asn) | not specified [RCV004158189] | uncertain significance | 16 | 89193547 | 89193547 | Human | | name |
| 156101323 | CV2313476 | single nucleotide variant | NM_004933.3(CDH15):c.2048G>A (p.Gly683Glu) | not specified [RCV004163786] | uncertain significance | 16 | 89193810 | 89193810 | Human | | name |
| 156174430 | CV2326923 | single nucleotide variant | NM_004933.3(CDH15):c.1315C>G (p.Pro439Ala) | not specified [RCV004176737] | uncertain significance | 16 | 89191412 | 89191412 | Human | | name |
| 156174234 | CV2326924 | single nucleotide variant | NM_004933.3(CDH15):c.1340G>A (p.Gly447Asp) | not specified [RCV004176738] | uncertain significance | 16 | 89191437 | 89191437 | Human | | name |
| 156353533 | CV2327554 | single nucleotide variant | NM_004933.3(CDH15):c.2083C>A (p.Arg695Ser) | not specified [RCV004176855] | uncertain significance | 16 | 89193845 | 89193845 | Human | | name |
| 155989832 | CV2352281 | single nucleotide variant | NM_004933.3(CDH15):c.1163C>T (p.Ala388Val) | not specified [RCV004200756] | uncertain significance | 16 | 89190427 | 89190427 | Human | | name |
| 156170947 | CV2354921 | single nucleotide variant | NM_004933.3(CDH15):c.2096A>C (p.Gln699Pro) | not specified [RCV004191416] | uncertain significance | 16 | 89193858 | 89193858 | Human | | name |
| 156258318 | CV2366059 | single nucleotide variant | NM_004933.3(CDH15):c.1729G>C (p.Val577Leu) | not specified [RCV004210103] | uncertain significance | 16 | 89192318 | 89192318 | Human | | name |
| 156345771 | CV2372980 | single nucleotide variant | NM_004933.3(CDH15):c.2097G>C (p.Gln699His) | not specified [RCV004224014] | uncertain significance | 16 | 89193859 | 89193859 | Human | | name |
| 156391357 | CV2385300 | single nucleotide variant | NM_004933.3(CDH15):c.1090G>C (p.Val364Leu) | not specified [RCV004230583] | uncertain significance | 16 | 89190354 | 89190354 | Human | | name |
| 156101475 | CV2386790 | single nucleotide variant | NM_004933.3(CDH15):c.1460C>G (p.Pro487Arg) | not specified [RCV004233446] | uncertain significance | 16 | 89191739 | 89191739 | Human | | name |
| 243054999 | CV2407210 | single nucleotide variant | NM_004933.3(CDH15):c.1435C>T (p.His479Tyr) | not provided [RCV003144760] | uncertain significance | 16 | 89191714 | 89191714 | Human | | name |
| 243054984 | CV2409835 | single nucleotide variant | NM_004933.3(CDH15):c.2272G>A (p.Asp758Asn) | not provided [RCV003144756] | uncertain significance | 16 | 89194982 | 89194982 | Human | | name |
| 329386546 | CV2428256 | single nucleotide variant | NM_004933.3(CDH15):c.2018G>A (p.Arg673His) | not specified [RCV004251285] | uncertain significance | 16 | 89193780 | 89193780 | Human | | name |
| 329379082 | CV2443288 | single nucleotide variant | NM_004933.3(CDH15):c.1305C>G (p.His435Gln) | not provided [RCV003326680]|not specified [RCV004260090] | likely benign|uncertain significance | 16 | 89191402 | 89191402 | Human | | name |
| 329386872 | CV2452629 | single nucleotide variant | NM_004933.3(CDH15):c.1997C>A (p.Ala666Asp) | not specified [RCV004275203] | uncertain significance | 16 | 89193759 | 89193759 | Human | | name |
| 11642116 | CV264651 | single nucleotide variant | NM_004933.3(CDH15):c.2231C>T (p.Ser744Leu) | not provided [RCV000369334] | uncertain significance | 16 | 89194941 | 89194941 | Human | | name |
| 401739127 | CV2673228 | single nucleotide variant | NM_004933.3(CDH15):c.1840G>A (p.Ala614Thr) | not specified [RCV004286035] | uncertain significance | 16 | 89192429 | 89192429 | Human | | name |
| 401771301 | CV2675539 | single nucleotide variant | NM_004933.3(CDH15):c.1021T>C (p.Ser341Pro) | not specified [RCV004295155] | uncertain significance | 16 | 89190285 | 89190285 | Human | | name |
| 401739229 | CV2676461 | single nucleotide variant | NM_004933.3(CDH15):c.1288C>T (p.Arg430Trp) | not specified [RCV004286476] | uncertain significance | 16 | 89191385 | 89191385 | Human | | name |
| 401730741 | CV2677328 | single nucleotide variant | NM_004933.3(CDH15):c.1258G>C (p.Asp420His) | not specified [RCV004295944] | uncertain significance | 16 | 89191355 | 89191355 | Human | | name |
| 401727932 | CV2678591 | single nucleotide variant | NM_004933.3(CDH15):c.1603A>G (p.Ser535Gly) | not specified [RCV004292597] | uncertain significance | 16 | 89191882 | 89191882 | Human | | name |
| 401741028 | CV2679859 | single nucleotide variant | NM_004933.3(CDH15):c.1276G>A (p.Ala426Thr) | not specified [RCV004282313] | uncertain significance | 16 | 89191373 | 89191373 | Human | | name |
| 401729646 | CV2683750 | single nucleotide variant | NM_004933.3(CDH15):c.1289G>A (p.Arg430Gln) | not specified [RCV004284488] | uncertain significance | 16 | 89191386 | 89191386 | Human | | name |
| 401739662 | CV2684135 | single nucleotide variant | NM_004933.3(CDH15):c.1906G>A (p.Gly636Ser) | not specified [RCV004288811] | uncertain significance | 16 | 89193520 | 89193520 | Human | | name |
| 401757868 | CV2685605 | single nucleotide variant | NM_004933.3(CDH15):c.1025T>C (p.Val342Ala) | not specified [RCV004294615] | uncertain significance | 16 | 89190289 | 89190289 | Human | | name |
| 401772936 | CV2698036 | single nucleotide variant | NM_004933.3(CDH15):c.1644C>G (p.His548Gln) | not specified [RCV004302837] | uncertain significance | 16 | 89192233 | 89192233 | Human | | name |
| 401772869 | CV2708995 | single nucleotide variant | NM_004933.3(CDH15):c.2435G>A (p.Arg812Gln) | not specified [RCV004314353] | likely benign | 16 | 89195145 | 89195145 | Human | | name |
| 401761987 | CV2713970 | single nucleotide variant | NM_004933.3(CDH15):c.2051C>A (p.Pro684Gln) | not specified [RCV004315385] | uncertain significance | 16 | 89193813 | 89193813 | Human | | name |
| 401753690 | CV2716853 | single nucleotide variant | NM_004933.3(CDH15):c.1904G>C (p.Arg635Pro) | not specified [RCV004329979] | uncertain significance | 16 | 89193518 | 89193518 | Human | | name |
| 401864112 | CV2767480 | single nucleotide variant | NM_004933.3(CDH15):c.1009G>A (p.Glu337Lys) | Intellectual disability [RCV005356413]|not specified [RCV004343644] | likely benign|uncertain significance | 16 | 89190273 | 89190273 | Human | 2 | name |
| 401862534 | CV2768328 | single nucleotide variant | NM_004933.3(CDH15):c.1649T>C (p.Val550Ala) | not specified [RCV004350593] | uncertain significance | 16 | 89192238 | 89192238 | Human | | name |
| 401870108 | CV2772620 | single nucleotide variant | NM_004933.3(CDH15):c.1517C>T (p.Thr506Met) | not specified [RCV004355370] | uncertain significance | 16 | 89191796 | 89191796 | Human | | name |
| 401896561 | CV2782215 | single nucleotide variant | NM_004933.3(CDH15):c.1246T>C (p.Tyr416His) | not specified [RCV004359187] | uncertain significance | 16 | 89191343 | 89191343 | Human | | name |
| 401899231 | CV2783759 | single nucleotide variant | NM_004933.3(CDH15):c.2074C>A (p.Pro692Thr) | not specified [RCV004360677] | uncertain significance | 16 | 89193836 | 89193836 | Human | | name |
| 401896749 | CV2788743 | single nucleotide variant | NM_004933.3(CDH15):c.1647G>C (p.Gln549His) | not specified [RCV004361214] | uncertain significance | 16 | 89192236 | 89192236 | Human | | name |
| 401872217 | CV2793040 | single nucleotide variant | NM_004933.3(CDH15):c.1989C>A (p.Asp663Glu) | not specified [RCV004360372] | uncertain significance | 16 | 89193603 | 89193603 | Human | | name |
| 401911961 | CV2817972 | single nucleotide variant | NM_004933.3(CDH15):c.1040C>T (p.Pro347Leu) | Intellectual disability, autosomal dominant 3 [RCV005012955]|not provided [RCV003426916] | uncertain significance | 16 | 89190304 | 89190304 | Human | 1 | name |
| 401911963 | CV2817977 | single nucleotide variant | NM_004933.3(CDH15):c.1666C>T (p.Arg556Cys) | not provided [RCV003426918] | benign | 16 | 89192255 | 89192255 | Human | | name |
| 401916888 | CV2817979 | single nucleotide variant | NM_004933.3(CDH15):c.1813G>C (p.Gly605Arg) | not provided [RCV003429132] | uncertain significance | 16 | 89192402 | 89192402 | Human | | name |
| 401935580 | CV2817980 | single nucleotide variant | NM_004933.3(CDH15):c.1827C>G (p.Ile609Met) | not provided [RCV003413037] | benign | 16 | 89192416 | 89192416 | Human | | name |
| 401935581 | CV2817981 | single nucleotide variant | NM_004933.3(CDH15):c.1871T>A (p.Val624Glu) | not provided [RCV003413038] | uncertain significance | 16 | 89193485 | 89193485 | Human | | name |
| 401903581 | CV2817985 | single nucleotide variant | NM_004933.3(CDH15):c.2054C>T (p.Pro685Leu) | not provided [RCV003419508] | benign | 16 | 89193816 | 89193816 | Human | | name |
| 401935583 | CV2817986 | single nucleotide variant | NM_004933.3(CDH15):c.2137G>A (p.Asp713Asn) | not provided [RCV003413040] | benign | 16 | 89193899 | 89193899 | Human | | name |
| 401911967 | CV2817987 | single nucleotide variant | NM_004933.3(CDH15):c.2170A>G (p.Ser724Gly) | not provided [RCV003426921] | uncertain significance | 16 | 89194880 | 89194880 | Human | | name |
| 405261137 | CV3186070 | single nucleotide variant | NM_004933.3(CDH15):c.1789G>A (p.Ala597Thr) | not provided [RCV003885146] | uncertain significance | 16 | 89192378 | 89192378 | Human | | name |
| 405267146 | CV3186776 | single nucleotide variant | NM_004933.3(CDH15):c.1409C>A (p.Ser470Tyr) | not provided [RCV003886857] | uncertain significance | 16 | 89191688 | 89191688 | Human | | name |
| 405269496 | CV3187328 | single nucleotide variant | NM_004933.3(CDH15):c.1930C>T (p.Gln644Ter) | not provided [RCV003887412] | uncertain significance | 16 | 89193544 | 89193544 | Human | | name |
| 405719673 | CV3296418 | single nucleotide variant | NM_004933.3(CDH15):c.1165C>T (p.Pro389Ser) | not specified [RCV004427967] | uncertain significance | 16 | 89190429 | 89190429 | Human | | name |
| 405719683 | CV3296419 | single nucleotide variant | NM_004933.3(CDH15):c.1198C>T (p.Arg400Trp) | not specified [RCV004427968] | likely benign | 16 | 89190462 | 89190462 | Human | | name |
| 405719690 | CV3296420 | single nucleotide variant | NM_004933.3(CDH15):c.1517C>A (p.Thr506Lys) | not specified [RCV004427969] | uncertain significance | 16 | 89191796 | 89191796 | Human | | name |
| 405719698 | CV3296421 | single nucleotide variant | NM_004933.3(CDH15):c.1537C>A (p.His513Asn) | not provided [RCV004721808]|not specified [RCV004427970] | uncertain significance | 16 | 89191816 | 89191816 | Human | | name |
| 405719708 | CV3296422 | single nucleotide variant | NM_004933.3(CDH15):c.1606C>A (p.Gln536Lys) | not specified [RCV004427971] | uncertain significance | 16 | 89191885 | 89191885 | Human | | name |
| 405719716 | CV3296423 | single nucleotide variant | NM_004933.3(CDH15):c.1648G>C (p.Val550Leu) | not specified [RCV004427972] | uncertain significance | 16 | 89192237 | 89192237 | Human | | name |
| 405719723 | CV3296424 | single nucleotide variant | NM_004933.3(CDH15):c.2039T>A (p.Leu680Gln) | not specified [RCV004427973] | uncertain significance | 16 | 89193801 | 89193801 | Human | | name |
| 405719737 | CV3296426 | single nucleotide variant | NM_004933.3(CDH15):c.2105G>C (p.Arg702Pro) | not specified [RCV004427975] | uncertain significance | 16 | 89193867 | 89193867 | Human | | name |
| 405719745 | CV3296427 | single nucleotide variant | NM_004933.3(CDH15):c.2108T>C (p.Val703Ala) | not specified [RCV004427976] | likely benign | 16 | 89193870 | 89193870 | Human | | name |
| 405719751 | CV3296428 | single nucleotide variant | NM_004933.3(CDH15):c.2210A>G (p.Tyr737Cys) | not specified [RCV004427977] | uncertain significance | 16 | 89194920 | 89194920 | Human | | name |
| 405719759 | CV3296429 | single nucleotide variant | NM_004933.3(CDH15):c.2231C>G (p.Ser744Trp) | not specified [RCV004427978] | uncertain significance | 16 | 89194941 | 89194941 | Human | | name |
| 405719767 | CV3296430 | single nucleotide variant | NM_004933.3(CDH15):c.2341G>T (p.Gly781Trp) | not specified [RCV004427979] | uncertain significance | 16 | 89195051 | 89195051 | Human | | name |
| 407426128 | CV3409743 | single nucleotide variant | NM_004933.3(CDH15):c.1160G>C (p.Gly387Ala) | not provided [RCV004585675] | likely benign | 16 | 89190424 | 89190424 | Human | | name |
| 407458013 | CV3416280 | single nucleotide variant | NM_004933.3(CDH15):c.1537C>T (p.His513Tyr) | not provided [RCV004599158] | uncertain significance | 16 | 89191816 | 89191816 | Human | | name |
| 407454778 | CV3422196 | single nucleotide variant | NM_004933.3(CDH15):c.1139T>A (p.Leu380His) | not specified [RCV004609987] | uncertain significance | 16 | 89190403 | 89190403 | Human | | name |
| 407454784 | CV3422198 | single nucleotide variant | NM_004933.3(CDH15):c.1747G>A (p.Gly583Ser) | not specified [RCV004609989] | likely benign | 16 | 89192336 | 89192336 | Human | | name |
| 407454789 | CV3422200 | single nucleotide variant | NM_004933.3(CDH15):c.1538A>T (p.His513Leu) | not specified [RCV004609991] | uncertain significance | 16 | 89191817 | 89191817 | Human | | name |
| 407454792 | CV3422201 | single nucleotide variant | NM_004933.3(CDH15):c.2063G>A (p.Arg688His) | not specified [RCV004609992] | uncertain significance | 16 | 89193825 | 89193825 | Human | | name |
| 408380530 | CV3501186 | single nucleotide variant | NM_004933.3(CDH15):c.2113C>T (p.Pro705Ser) | not provided [RCV004727274] | likely benign | 16 | 89193875 | 89193875 | Human | | name |
| 596920393 | CV3534576 | single nucleotide variant | NM_004933.3(CDH15):c.2434C>T (p.Arg812Trp) | not specified [RCV004782137] | uncertain significance | 16 | 89195144 | 89195144 | Human | | name |
| 596924889 | CV3536795 | single nucleotide variant | NM_004933.3(CDH15):c.2081G>C (p.Gly694Ala) | Intellectual disability, autosomal dominant 3 [RCV004785789] | uncertain significance | 16 | 89193843 | 89193843 | Human | 1 | name |
| 596946664 | CV3548493 | single nucleotide variant | NM_004933.3(CDH15):c.1454C>G (p.Pro485Arg) | not provided [RCV004810320] | uncertain significance | 16 | 89191733 | 89191733 | Human | | name |
| 596948302 | CV3549384 | single nucleotide variant | NM_004933.3(CDH15):c.1714G>T (p.Glu572Ter) | not provided [RCV004812204] | uncertain significance | 16 | 89192303 | 89192303 | Human | | name |
| 596946220 | CV3550482 | single nucleotide variant | NM_004933.3(CDH15):c.2122C>T (p.Pro708Ser) | Intellectual disability, autosomal dominant 3 [RCV004819023] | uncertain significance | 16 | 89193884 | 89193884 | Human | 1 | name |
| 597788724 | CV3645195 | single nucleotide variant | NM_004933.3(CDH15):c.1378T>C (p.Ser460Pro) | not specified [RCV004901555] | likely benign | 16 | 89191657 | 89191657 | Human | | name |
| 597788735 | CV3645198 | single nucleotide variant | NM_004933.3(CDH15):c.1996G>A (p.Ala666Thr) | not specified [RCV004901558] | uncertain significance | 16 | 89193758 | 89193758 | Human | | name |
| 597788739 | CV3645199 | single nucleotide variant | NM_004933.3(CDH15):c.2072C>G (p.Ala691Gly) | not specified [RCV004901559] | uncertain significance | 16 | 89193834 | 89193834 | Human | | name |
| 597788743 | CV3645201 | single nucleotide variant | NM_004933.3(CDH15):c.2333A>G (p.Asp778Gly) | not specified [RCV004901560] | uncertain significance | 16 | 89195043 | 89195043 | Human | | name |
| 597788751 | CV3645203 | single nucleotide variant | NM_004933.3(CDH15):c.1577C>G (p.Pro526Arg) | not specified [RCV004901562] | uncertain significance | 16 | 89191856 | 89191856 | Human | | name |
| 597788755 | CV3645204 | single nucleotide variant | NM_004933.3(CDH15):c.1250A>T (p.Asp417Val) | not specified [RCV004901563] | uncertain significance | 16 | 89191347 | 89191347 | Human | | name |
| 597788759 | CV3645205 | single nucleotide variant | NM_004933.3(CDH15):c.1463C>G (p.Pro488Arg) | not specified [RCV004901564] | uncertain significance | 16 | 89191742 | 89191742 | Human | | name |
| 597788763 | CV3645206 | single nucleotide variant | NM_004933.3(CDH15):c.1525G>A (p.Asp509Asn) | not specified [RCV004901565] | uncertain significance | 16 | 89191804 | 89191804 | Human | | name |
| 597788766 | CV3645207 | single nucleotide variant | NM_004933.3(CDH15):c.1828G>C (p.Val610Leu) | not specified [RCV004901566] | uncertain significance | 16 | 89192417 | 89192417 | Human | | name |
| 597758841 | CV3715873 | single nucleotide variant | NM_004933.3(CDH15):c.1741C>A (p.Arg581Ser) | Intellectual disability, autosomal dominant 3 [RCV005017891] | uncertain significance | 16 | 89192330 | 89192330 | Human | 1 | name |
| 597714219 | CV3715874 | single nucleotide variant | NM_004933.3(CDH15):c.2268G>C (p.Gln756His) | Intellectual disability, autosomal dominant 3 [RCV005010059] | uncertain significance | 16 | 89194978 | 89194978 | Human | 1 | name |
| 12836840 | CV374742 | single nucleotide variant | NM_004933.3(CDH15):c.2324G>A (p.Arg775Gln) | not provided [RCV000896108]|not specified [RCV000424124] | likely benign | 16 | 89195034 | 89195034 | Human | | name |
| 598122660 | CV3884592 | single nucleotide variant | NM_004933.3(CDH15):c.1793G>C (p.Gly598Ala) | not specified [RCV005237284] | uncertain significance | 16 | 89192382 | 89192382 | Human | | name |
| 598210033 | CV3895017 | single nucleotide variant | NM_004933.3(CDH15):c.1790C>T (p.Ala597Val) | Intellectual disability [RCV005358477] | uncertain significance | 16 | 89192379 | 89192379 | Human | 2 | name |
| 598229550 | CV3947294 | single nucleotide variant | NM_004933.3(CDH15):c.2105G>A (p.Arg702Gln) | not specified [RCV005319245] | uncertain significance | 16 | 89193867 | 89193867 | Human | | name |
| 598168455 | CV3947295 | single nucleotide variant | NM_004933.3(CDH15):c.2385G>C (p.Gln795His) | not specified [RCV005308251] | uncertain significance | 16 | 89195095 | 89195095 | Human | | name |
| 598229557 | CV3947297 | single nucleotide variant | NM_004933.3(CDH15):c.2365G>A (p.Gly789Arg) | not specified [RCV005319246] | uncertain significance | 16 | 89195075 | 89195075 | Human | | name |
| 598229562 | CV3947298 | single nucleotide variant | NM_004933.3(CDH15):c.1178T>C (p.Leu393Pro) | not specified [RCV005319247] | likely benign | 16 | 89190442 | 89190442 | Human | | name |
| 598168476 | CV3947300 | single nucleotide variant | NM_004933.3(CDH15):c.2123C>A (p.Pro708His) | not specified [RCV005308254] | uncertain significance | 16 | 89193885 | 89193885 | Human | | name |
| 598168495 | CV3947303 | single nucleotide variant | NM_004933.3(CDH15):c.2012A>G (p.Gln671Arg) | not specified [RCV005308257] | uncertain significance | 16 | 89193774 | 89193774 | Human | | name |
| 598168503 | CV3947304 | single nucleotide variant | NM_004933.3(CDH15):c.2080G>A (p.Gly694Ser) | not specified [RCV005308258] | likely benign | 16 | 89193842 | 89193842 | Human | | name |
| 598168516 | CV3947306 | single nucleotide variant | NM_004933.3(CDH15):c.2089C>T (p.His697Tyr) | not specified [RCV005308260] | uncertain significance | 16 | 89193851 | 89193851 | Human | | name |
| 598168519 | CV3947308 | single nucleotide variant | NM_004933.3(CDH15):c.2272G>C (p.Asp758His) | not specified [RCV005308261] | uncertain significance | 16 | 89194982 | 89194982 | Human | | name |
| 616933716 | CV4011678 | single nucleotide variant | NM_004933.3(CDH15):c.1406T>C (p.Leu469Pro) | not specified [RCV005408227] | uncertain significance | 16 | 89191685 | 89191685 | Human | | name |
| 616933868 | CV4011839 | single nucleotide variant | NM_004933.3(CDH15):c.2287T>C (p.Tyr763His) | not specified [RCV005408388] | uncertain significance | 16 | 89194997 | 89194997 | Human | | name |
| 12899354 | CV409784 | single nucleotide variant | NM_004933.3(CDH15):c.1125C>G (p.Phe375Leu) | CDH15-related disorder [RCV004722821]|not provided [RCV000480014] | uncertain significance | 16 | 89190389 | 89190389 | Human | 1 | name , trait , alternate_id |
| 12902245 | CV409787 | single nucleotide variant | NM_004933.3(CDH15):c.2167G>C (p.Asp723His) | not provided [RCV000486645] | uncertain significance | 16 | 89194877 | 89194877 | Human | | name |
| 12902295 | CV409788 | single nucleotide variant | NM_004933.3(CDH15):c.2227G>A (p.Gly743Ser) | not provided [RCV000486762] | uncertain significance | 16 | 89194937 | 89194937 | Human | | name |
| 13215579 | CV429872 | single nucleotide variant | NM_004933.3(CDH15):c.1211C>T (p.Thr404Ile) | CDH15-related disorder [RCV003932822]|Intellectual disability [RCV005356020]|not specified [RCV000502559] | likely benign|uncertain significance | 16 | 89190475 | 89190475 | Human | 3 | name , trait , alternate_id |
| 13215795 | CV429873 | single nucleotide variant | NM_004933.3(CDH15):c.1454C>T (p.Pro485Leu) | not provided [RCV001815397]|not specified [RCV000502825] | likely benign | 16 | 89191733 | 89191733 | Human | | name |
| 13212940 | CV429874 | single nucleotide variant | NM_004933.3(CDH15):c.1531C>G (p.Pro511Ala) | not provided [RCV001171790]|not specified [RCV000499396] | uncertain significance | 16 | 89191810 | 89191810 | Human | | name |
| 13214964 | CV429876 | single nucleotide variant | NM_004933.3(CDH15):c.1796G>T (p.Gly599Val) | not provided [RCV003144294]|not specified [RCV000501896] | uncertain significance | 16 | 89192385 | 89192385 | Human | | name |
| 13216523 | CV429878 | single nucleotide variant | NM_004933.3(CDH15):c.2042C>T (p.Pro681Leu) | not specified [RCV000503652] | uncertain significance | 16 | 89193804 | 89193804 | Human | | name |
| 13213759 | CV429879 | single nucleotide variant | NM_004933.3(CDH15):c.2051C>T (p.Pro684Leu) | not specified [RCV000500296] | likely benign|uncertain significance | 16 | 89193813 | 89193813 | Human | | name |
| 13215654 | CV429880 | single nucleotide variant | NM_004933.3(CDH15):c.2237C>T (p.Ala746Val) | not specified [RCV000502733] | likely benign | 16 | 89194947 | 89194947 | Human | | name |
| 13214499 | CV429882 | single nucleotide variant | NM_004933.3(CDH15):c.2369C>T (p.Ala790Val) | Intellectual disability, autosomal dominant 3 [RCV000755641]|not provided [RCV003409693]|not specified [RCV000501168] | likely benign|conflicting interpretations of pathogenicity | 16 | 89195079 | 89195079 | Human | 1 | name |
| 13462861 | CV438608 | single nucleotide variant | NM_004933.3(CDH15):c.1876C>T (p.Leu626Phe) | not provided [RCV000514969] | benign|likely benign | 16 | 89193490 | 89193490 | Human | | name |
| 13477582 | CV445664 | single nucleotide variant | NM_004933.3(CDH15):c.1582C>T (p.Leu528Phe) | not provided [RCV000520436] | uncertain significance | 16 | 89191861 | 89191861 | Human | | name |
| 13476294 | CV445665 | single nucleotide variant | NM_004933.3(CDH15):c.1711C>T (p.Arg571Cys) | not provided [RCV000520112] | uncertain significance | 16 | 89192300 | 89192300 | Human | | name |
| 13797991 | CV553184 | single nucleotide variant | NM_004933.3(CDH15):c.2288A>G (p.Tyr763Cys) | Intellectual disability [RCV000681506] | likely benign | 16 | 89194998 | 89194998 | Human | 2 | name |
| 21075476 | CV797445 | single nucleotide variant | NM_004933.3(CDH15):c.1275C>G (p.Asp425Glu) | not provided [RCV000996387] | uncertain significance | 16 | 89191372 | 89191372 | Human | | name |
| 25316861 | CV804885 | single nucleotide variant | NM_004933.3(CDH15):c.1031A>T (p.Asn344Ile) | Intellectual disability, autosomal dominant 3 [RCV001007608] | uncertain significance | 16 | 89190295 | 89190295 | Human | 1 | name |
| 8627879 | CV83023 | single nucleotide variant | NM_004933.2(CDH15):c.1325C>T (p.Pro442Leu) | Malignant melanoma [RCV000063103] | not provided | 16 | 89191422 | 89191422 | Human | | name |
| 598210045 | CV3895019 | deletion | NM_004933.3(CDH15):c.2215_2217del (p.Tyr739del) | Intellectual disability [RCV005358479]|Intellectual disability, autosomal dominant 3 [RCV005412746] | uncertain significance | 16 | 89194923 | 89194925 | Human | 3 | name |
| 21072902 | CV791654 | deletion | NM_004933.3(CDH15):c.1999_2004del (p.Tyr667_Asp668del) | Intellectual disability, autosomal dominant 3 [RCV000989657] | likely benign | 16 | 89193760 | 89193765 | Human | 1 | name |
| 401916584 | CV2817975 | microsatellite | NM_004933.3(CDH15):c.1453CCG[5] (p.Pro488_Gly489insPro) | not provided [RCV003429131] | likely benign | 16 | 89191731 | 89191732 | Human | | name |
| 243054996 | CV2407209 | indel | NM_004933.3(CDH15):c.1131_1141delinsCCTCT (p.Glu377_Arg381delinsAspLeuTrp) | not provided [RCV003144759] | uncertain significance | 16 | 89190395 | 89190405 | Human | | name |