| 150532016 | CV1291779 | single nucleotide variant | NM_002819.5(PTBP1):c.8+12G>C | not provided [RCV001733489] | benign | 19 | 797517 | 797517 | Human | | name |
| 15148788 | CV745306 | single nucleotide variant | NM_002819.5(PTBP1):c.435+4C>T | not provided [RCV000900794] | likely benign | 19 | 804442 | 804442 | Human | | name |
| 15203462 | CV760642 | single nucleotide variant | NM_002819.5(PTBP1):c.718-7C>T | not provided [RCV000914019] | likely benign | 19 | 805006 | 805006 | Human | | name |
| 15181466 | CV780204 | single nucleotide variant | NM_002819.5(PTBP1):c.1119+3A>G | not provided [RCV000974399] | benign|likely benign | 19 | 806559 | 806559 | Human | | name |
| 150407872 | CV1200086 | single nucleotide variant | NM_002819.5(PTBP1):c.1A>G (p.Met1Val) | not provided [RCV001579946] | uncertain significance | 19 | 797498 | 797498 | Human | | name |
| 25319118 | CV816530 | single nucleotide variant | NM_002819.5(PTBP1):c.2T>C (p.Met1Thr) | not provided [RCV001028100] | uncertain significance | 19 | 797499 | 797499 | Human | | name |
| 15167143 | CV716775 | single nucleotide variant | NM_002819.5(PTBP1):c.264C>T (p.Leu88=) | not provided [RCV000971337] | benign|likely benign | 19 | 804184 | 804184 | Human | | name |
| 156183487 | CV2327971 | single nucleotide variant | NM_002819.5(PTBP1):c.82C>T (p.Pro28Ser) | not specified [RCV004179286] | uncertain significance | 19 | 803603 | 803603 | Human | | name |
| 329397092 | CV2459907 | single nucleotide variant | NM_002819.5(PTBP1):c.88A>G (p.Ile30Val) | not specified [RCV004279399] | uncertain significance | 19 | 803609 | 803609 | Human | | name |
| 405672417 | CV3377600 | single nucleotide variant | NM_002819.5(PTBP1):c.909C>T (p.Ile303=) | not specified [RCV004515460] | likely benign | 19 | 805508 | 805508 | Human | | name |
| 407491129 | CV3471993 | single nucleotide variant | NM_002819.5(PTBP1):c.90C>G (p.Ile30Met) | not specified [RCV004666797] | uncertain significance | 19 | 803611 | 803611 | Human | | name |
| 598171266 | CV3908273 | single nucleotide variant | NM_002819.5(PTBP1):c.885G>A (p.Ala295=) | not specified [RCV005263310] | likely benign | 19 | 805180 | 805180 | Human | | name |
| 15184687 | CV705350 | single nucleotide variant | NM_002819.5(PTBP1):c.699C>T (p.Ser233=) | not provided [RCV000952770] | benign | 19 | 804921 | 804921 | Human | | name |
| 15103075 | CV757349 | single nucleotide variant | NM_002819.5(PTBP1):c.363G>A (p.Leu121=) | not provided [RCV000915093] | likely benign | 19 | 804366 | 804366 | Human | | name |
| 15098102 | CV757350 | single nucleotide variant | NM_002819.5(PTBP1):c.510C>T (p.Ala170=) | not provided [RCV000914166] | likely benign | 19 | 804606 | 804606 | Human | | name |
| 15196522 | CV772983 | single nucleotide variant | NM_002819.5(PTBP1):c.564G>A (p.Val188=) | not provided [RCV000934242] | likely benign | 19 | 804660 | 804660 | Human | | name |
| 15109228 | CV772984 | single nucleotide variant | NM_002819.5(PTBP1):c.756G>T (p.Thr252=) | not provided [RCV000938304] | likely benign | 19 | 805051 | 805051 | Human | | name |
| 15177910 | CV778562 | deletion | NM_002819.5(PTBP1):c.1463+20_1463+36del | not provided [RCV000951150] | benign | 19 | 808772 | 808788 | Human | | name |
| 401906781 | CV2815034 | single nucleotide variant | NM_002819.5(PTBP1):c.1209C>T (p.Ala403=) | not provided [RCV003421691] | likely benign | 19 | 808415 | 808415 | Human | | name |
| 405672413 | CV3377599 | single nucleotide variant | NM_002819.5(PTBP1):c.175A>G (p.Arg59Gly) | not specified [RCV004515459] | uncertain significance | 19 | 804095 | 804095 | Human | | name |
| 407491126 | CV3471992 | single nucleotide variant | NM_002819.5(PTBP1):c.104C>T (p.Ser35Leu) | not specified [RCV004666796] | uncertain significance | 19 | 803625 | 803625 | Human | | name |
| 597750653 | CV3592226 | single nucleotide variant | NM_002819.5(PTBP1):c.295A>G (p.Ile99Val) | not specified [RCV004846507] | uncertain significance | 19 | 804298 | 804298 | Human | | name |
| 597750665 | CV3592229 | single nucleotide variant | NM_002819.5(PTBP1):c.167T>A (p.Val56Asp) | not specified [RCV004846510] | uncertain significance | 19 | 804087 | 804087 | Human | | name |
| 598171253 | CV3908270 | single nucleotide variant | NM_002819.5(PTBP1):c.166G>A (p.Val56Ile) | not specified [RCV005263307] | uncertain significance | 19 | 804086 | 804086 | Human | | name |
| 598171279 | CV3908276 | single nucleotide variant | NM_002819.5(PTBP1):c.141C>G (p.Phe47Leu) | not specified [RCV005263313] | uncertain significance | 19 | 804061 | 804061 | Human | | name |
| 15136188 | CV716778 | single nucleotide variant | NM_002819.5(PTBP1):c.1332C>T (p.Arg444=) | not provided [RCV000965411] | benign | 19 | 808631 | 808631 | Human | | name |
| 15119641 | CV716779 | single nucleotide variant | NM_002819.5(PTBP1):c.1380C>T (p.Pro460=) | not provided [RCV000962584] | benign | 19 | 808679 | 808679 | Human | | name |
| 15198537 | CV728509 | single nucleotide variant | NM_002819.5(PTBP1):c.1374C>T (p.Asn458=) | not provided [RCV000890385] | benign | 19 | 808673 | 808673 | Human | | name |
| 15173310 | CV742218 | single nucleotide variant | NM_002819.5(PTBP1):c.1032G>A (p.Ala344=) | not provided [RCV000905837] | benign | 19 | 806469 | 806469 | Human | | name |
| 15173316 | CV742223 | single nucleotide variant | NM_002819.5(PTBP1):c.1167C>T (p.Asp389=) | not provided [RCV000905838] | benign | 19 | 808373 | 808373 | Human | | name |
| 15117824 | CV742225 | single nucleotide variant | NM_002819.5(PTBP1):c.1368C>T (p.Tyr456=) | not provided [RCV000895443] | likely benign | 19 | 808667 | 808667 | Human | | name |
| 15119425 | CV757352 | single nucleotide variant | NM_002819.5(PTBP1):c.1602C>T (p.Leu534=) | not provided [RCV000918142] | likely benign | 19 | 810754 | 810754 | Human | | name |
| 8628440 | CV83584 | single nucleotide variant | NM_002819.4(PTBP1):c.1416C>T (p.Phe472=) | Malignant melanoma [RCV000063665] | not provided | 19 | 808715 | 808715 | Human | | name |
| 155994758 | CV2253726 | single nucleotide variant | NM_002819.5(PTBP1):c.694G>C (p.Val232Leu) | not specified [RCV004127175] | uncertain significance | 19 | 804916 | 804916 | Human | | name |
| 155963482 | CV2254563 | single nucleotide variant | NM_002819.5(PTBP1):c.994G>A (p.Gly332Ser) | not specified [RCV004123913] | uncertain significance | 19 | 806431 | 806431 | Human | | name |
| 156182944 | CV2255292 | single nucleotide variant | NM_002819.5(PTBP1):c.835G>A (p.Asp279Asn) | not specified [RCV004117673] | uncertain significance | 19 | 805130 | 805130 | Human | | name |
| 155918590 | CV2279256 | single nucleotide variant | NM_002819.5(PTBP1):c.446C>T (p.Ala149Val) | not specified [RCV004139778] | uncertain significance | 19 | 804542 | 804542 | Human | | name |
| 155923026 | CV2280200 | single nucleotide variant | NM_002819.5(PTBP1):c.525G>A (p.Met175Ile) | not specified [RCV004140422] | uncertain significance | 19 | 804621 | 804621 | Human | | name |
| 156208373 | CV2308142 | single nucleotide variant | NM_002819.5(PTBP1):c.464A>G (p.Asn155Ser) | not specified [RCV004164380] | uncertain significance | 19 | 804560 | 804560 | Human | | name |
| 156395258 | CV2325355 | single nucleotide variant | NM_002819.5(PTBP1):c.785G>C (p.Ser262Thr) | not specified [RCV004177734] | uncertain significance | 19 | 805080 | 805080 | Human | | name |
| 156171339 | CV2380693 | single nucleotide variant | NM_002819.5(PTBP1):c.997G>A (p.Ala333Thr) | not specified [RCV004218273] | uncertain significance | 19 | 806434 | 806434 | Human | | name |
| 329380766 | CV2464346 | single nucleotide variant | NM_002819.5(PTBP1):c.845C>T (p.Ser282Phe) | not specified [RCV004276296] | uncertain significance | 19 | 805140 | 805140 | Human | | name |
| 401743042 | CV2677749 | single nucleotide variant | NM_002819.5(PTBP1):c.506C>T (p.Ala169Val) | not specified [RCV004291824] | uncertain significance | 19 | 804602 | 804602 | Human | | name |
| 401731823 | CV2690153 | single nucleotide variant | NM_002819.5(PTBP1):c.512T>C (p.Val171Ala) | not specified [RCV004302171] | uncertain significance | 19 | 804608 | 804608 | Human | | name |
| 401896841 | CV2788838 | single nucleotide variant | NM_002819.5(PTBP1):c.761G>T (p.Arg254Leu) | not specified [RCV004361292] | uncertain significance | 19 | 805056 | 805056 | Human | | name |
| 407531844 | CV3471991 | single nucleotide variant | NM_002819.5(PTBP1):c.505G>C (p.Ala169Pro) | not specified [RCV004657813] | uncertain significance | 19 | 804601 | 804601 | Human | | name |
| 597750656 | CV3592227 | single nucleotide variant | NM_002819.5(PTBP1):c.694G>A (p.Val232Met) | not specified [RCV004846508] | uncertain significance | 19 | 804916 | 804916 | Human | | name |
| 597750675 | CV3592231 | single nucleotide variant | NM_002819.5(PTBP1):c.940C>T (p.Pro314Ser) | not specified [RCV004846512] | uncertain significance | 19 | 805539 | 805539 | Human | | name |
| 597750679 | CV3592232 | single nucleotide variant | NM_002819.5(PTBP1):c.458C>T (p.Ala153Val) | not specified [RCV004846513] | uncertain significance | 19 | 804554 | 804554 | Human | | name |
| 597750684 | CV3592233 | single nucleotide variant | NM_002819.5(PTBP1):c.920C>T (p.Pro307Leu) | not specified [RCV004846514] | uncertain significance | 19 | 805519 | 805519 | Human | | name |
| 598171270 | CV3908274 | single nucleotide variant | NM_002819.5(PTBP1):c.308C>T (p.Thr103Met) | not specified [RCV005263311] | uncertain significance | 19 | 804311 | 804311 | Human | | name |
| 15112431 | CV728499 | single nucleotide variant | NM_002819.5(PTBP1):c.517G>A (p.Ala173Thr) | not provided [RCV000894468] | likely benign | 19 | 804613 | 804613 | Human | | name |
| 156045667 | CV2315542 | single nucleotide variant | NM_002819.5(PTBP1):c.1054A>G (p.Ile352Val) | not specified [RCV004169588] | uncertain significance | 19 | 806491 | 806491 | Human | | name |
| 401768116 | CV2678233 | single nucleotide variant | NM_002819.5(PTBP1):c.1373A>G (p.Asn458Ser) | not specified [RCV004289827] | uncertain significance | 19 | 808672 | 808672 | Human | | name |
| 405672408 | CV3378706 | single nucleotide variant | NM_002819.5(PTBP1):c.1402G>A (p.Gly468Ser) | not specified [RCV004515458] | uncertain significance | 19 | 808701 | 808701 | Human | | name |
| 407491132 | CV3471994 | single nucleotide variant | NM_002819.5(PTBP1):c.1586A>C (p.Glu529Ala) | not specified [RCV004666798] | uncertain significance | 19 | 810738 | 810738 | Human | | name |
| 597750670 | CV3592230 | single nucleotide variant | NM_002819.5(PTBP1):c.1627G>C (p.Gly543Arg) | not specified [RCV004846511] | uncertain significance | 19 | 810779 | 810779 | Human | | name |
| 598171249 | CV3908269 | single nucleotide variant | NM_002819.5(PTBP1):c.1504A>G (p.Ser502Gly) | not specified [RCV005263306] | uncertain significance | 19 | 810583 | 810583 | Human | | name |
| 598171258 | CV3908271 | single nucleotide variant | NM_002819.5(PTBP1):c.1369G>A (p.Gly457Ser) | not specified [RCV005263308] | uncertain significance | 19 | 808668 | 808668 | Human | | name |
| 598171262 | CV3908272 | single nucleotide variant | NM_002819.5(PTBP1):c.1078G>T (p.Ala360Ser) | not specified [RCV005263309] | uncertain significance | 19 | 806515 | 806515 | Human | | name |
| 598171275 | CV3908275 | single nucleotide variant | NM_002819.5(PTBP1):c.1519G>C (p.Val507Leu) | not specified [RCV005263312] | uncertain significance | 19 | 810598 | 810598 | Human | | name |
| 15177356 | CV742230 | single nucleotide variant | NM_002819.5(PTBP1):c.1519G>A (p.Val507Ile) | not provided [RCV000906631] | likely benign | 19 | 810598 | 810598 | Human | | name |